XPC | Belgian Genetic Tests database

Analyte Export to PDF
Name:	XPC complex subunit, DNA damage recognition and repair factor
Symbol:	XPC
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	RAD4 XPCC xeroderma pigmentosum group C protein
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

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Ataxia (348 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AAAS	100.00	No comment
ABCB7	99.99	No comment
ABCD1	97.56	No comment
ABHD12	88.30	No comment
ABHD5	99.85	No comment
ACADVL	98.04	No comment
ACO2	100.00	No comment
COQ8A	99.92	No comment
AFG3L2	94.80	No comment
AHI1	100.00	No comment
ALAS2	100.00	No comment
ALDH18A1	100.00	No comment
ALDH5A1	84.13	No comment
ALG6	100.00	No comment
ALS2	100.00	No comment
AMACR	96.78	No comment
AMPD2	99.90	No comment
AMT	100.00	No comment
ANO10	100.00	No comment
AP1S2	100.00	No comment
APTX	99.96	No comment
ARL13B	99.98	No comment
ARL6	100.00	No comment
ARSA	100.00	No comment
ARX	100.00	No comment
ASPA	100.00	No comment
ATCAY	100.00	No comment
ATG5	100.00	No comment
ATL1	99.89	No comment
ATM	100.00	No comment
ATP1A3	100.00	No comment
ATP2B2	100.00	No comment
ATP2B3	99.89	No comment
ATP7B	100.00	No comment
ATP8A2	99.91	No comment
ATXN1	100.00	No comment
ATXN10	98.19	No comment
ATXN2	93.25	No comment
ATXN3	99.47	No comment
ATXN7	98.67	No comment
B9D1	99.89	No comment
BBS1	100.00	No comment
BBS10	100.00	No comment
BBS12	100.00	No comment
BBS2	100.00	No comment
BBS4	99.97	No comment
BBS5	100.00	No comment
BBS7	99.99	No comment
BBS9	99.93	No comment
BEAN1	100.00	No comment
BIVM	100.00	No comment
BSCL2	100.00	No comment
BTD	100.00	No comment
TWNK	100.00	No comment
MTRFR	100.00	No comment
C19ORF12	100.00	No comment
CPLANE1	100.00	No comment
CA8	100.00	No comment
CACNA1A	99.53	No comment
CACNA1G	99.97	No comment
CACNB4	99.95	No comment
CAMTA1	99.98	No comment
CAPN1	99.97	No comment
CASK	99.99	No comment
CC2D2A	100.00	No comment
CCDC88C	99.64	No comment
CEP290	100.00	No comment
CEP41	100.00	No comment
CHMP1A	100.00	No comment
CLCN2	100.00	No comment
CLN5	98.80	No comment
CLN6	90.40	No comment
CLPP	97.95	No comment
COA7	100.00	No comment
COASY	100.00	No comment
COG5	99.95	No comment
COQ2	99.66	No comment
COQ6	100.00	No comment
COQ9	100.00	No comment
COX20	95.39	No comment
CP	100.00	No comment
CRAT	99.29	No comment
CSTB	98.75	No comment
CWF19L1	100.00	No comment
CYP27A1	99.38	No comment
CYP2U1	93.20	No comment
CYP7B1	95.41	No comment
DARS1	100.00	No comment
DARS2	100.00	No comment
DDB2	100.00	No comment
DDHD2	100.00	No comment
DLAT	100.00	No comment
DMXL2	100.00	No comment
DNAJC19	99.65	No comment
DNAJC3	99.99	No comment
DNAJC5	100.00	No comment
DNMT1	99.54	No comment
EBF3	99.94	No comment
EEF2	100.00	No comment
EIF2B1	100.00	No comment
EIF2B2	99.61	No comment
EIF2B3	98.87	No comment
EIF2B4	100.00	No comment
EIF2B5	100.00	No comment
ELOVL4	100.00	No comment
ELOVL5	100.00	No comment
EPM2A	97.21	No comment
ERCC2	99.22	No comment
ERCC3	100.00	No comment
ERCC4	99.99	No comment
ERCC5	100.00	No comment
ETFA	100.00	No comment
ETFB	100.00	No comment
ETFDH	100.00	No comment
EXOSC3	100.00	No comment
FA2H	95.71	No comment
FARS2	100.00	No comment
FBXL4	100.00	No comment
FDXR	100.00	No comment
FGF14	100.00	No comment
FLVCR1	100.00	No comment
FMR1	99.99	No comment
FOLR1	100.00	No comment
FRMD7	99.98	No comment
FXN	100.00	No comment
GALC	98.98	No comment
GBA1	100.00	No comment
GBA2	100.00	No comment
GBE1	100.00	No comment
GCDH	100.00	No comment
GCLC	99.98	No comment
GCSH	73.97	No comment
GFAP	100.00	No comment
GJC2	96.72	No comment
GLB1	100.00	No comment
GLDC	97.39	No comment
GLRX5	100.00	No comment
GM2A	100.00	No comment
GOSR2	100.00	No comment
GPAA1	95.08	No comment
GPR143	89.09	No comment
ADGRG1	99.99	No comment
GRID2	100.00	No comment
GRM1	99.99	No comment
GSS	100.00	No comment
HARS2	100.00	No comment
HEPACAM	99.85	No comment
HERC1	100.00	No comment
HEXA	100.00	No comment
HEXB	99.19	No comment
HIBCH	100.00	No comment
HPRT1	92.71	No comment
HTRA1	75.65	No comment
IFRD1	98.86	No comment
IGDCC3	95.07	No comment
INPP5E	99.14	No comment
IRF2BPL	97.56	No comment
ITM2B	100.00	No comment
ITPR1	99.99	No comment
KCNA1	100.00	No comment
KCNC3	76.20	No comment
KCND3	100.00	No comment
KCNJ10	100.00	No comment
KCNJ6	100.00	No comment
KCNMA1	99.93	No comment
WASHC5	100.00	No comment
RUBCN	96.60	No comment
NEXMIF	100.00	No comment
KIF1A	98.74	No comment
KIF1C	100.00	No comment
KIF5A	100.00	No comment
KIF5C	100.00	No comment
KIF7	99.64	No comment
L2HGDH	99.75	No comment
LAMA1	99.79	No comment
LAMB1	100.00	No comment
LARS2	100.00	No comment
LMNB1	97.00	No comment
LRPPRC	98.80	No comment
LYST	100.00	No comment
MFSD8	100.00	No comment
MKKS	100.00	No comment
MKS1	100.00	No comment
MLC1	98.57	No comment
MMACHC	100.00	No comment
MME	100.00	No comment
MRE11	99.05	No comment
MSTO1	99.96	No comment
MTFMT	97.83	No comment
MTPAP	99.98	No comment
MTRR	100.00	No comment
MTTP	100.00	No comment
MVK	100.00	No comment
NANS	100.00	No comment
NDUFAF6	95.61	No comment
NDUFS1	100.00	No comment
NDUFS2	100.00	No comment
NDUFS4	99.96	No comment
NDUFS7	93.34	No comment
NDUFS8	100.00	No comment
NDUFV1	99.62	No comment
NEFL	99.62	No comment
NEU1	100.00	No comment
NHLRC1	96.01	No comment
NKX6-2	94.10	No comment
NOL3	100.00	No comment
NOP56	99.99	No comment
NOTCH3	93.46	No comment
NPC1	97.50	No comment
NPC2	100.00	No comment
NPHP1	100.00	No comment
NUBPL	99.92	No comment
OCLN	100.00	No comment
OFD1	97.13	No comment
MED12	99.98	No comment
OPA3	100.00	No comment
OPHN1	99.94	No comment
OTUD4	100.00	No comment
PAX6	100.00	No comment
PDGFRB	99.98	No comment
PDHX	100.00	No comment
PDSS1	85.11	No comment
PDSS2	100.00	No comment
PDYN	100.00	No comment
PEX10	87.10	No comment
PEX16	99.97	No comment
PEX2	100.00	No comment
PEX7	95.60	No comment
PHYH	99.81	No comment
PIK3R5	100.00	No comment
PLA2G6	100.00	No comment
PLEKHG4	100.00	No comment
PLP1	100.00	No comment
PMM2	100.00	No comment
PMPCA	100.00	No comment
PNKD	99.93	No comment
PNKP	99.84	No comment
PNPLA6	99.95	No comment
POLG	100.00	No comment
POLH	100.00	No comment
POLR3A	100.00	No comment
POLR3B	100.00	No comment
PPP2R2B	100.00	No comment
PRICKLE1	100.00	No comment
PRKCG	100.00	No comment
PRNP	99.92	No comment
PRPS1	99.91	No comment
PRRT2	100.00	No comment
PTEN	99.45	No comment
PUM1	100.00	No comment
RAB18	99.99	No comment
RAB3A	100.00	No comment
RAB3GAP1	100.00	No comment
RARS2	100.00	No comment
RELN	100.00	No comment
RNASEH2A	100.00	No comment
RNASEH2C	100.00	No comment
RNF170	100.00	No comment
RNF216	100.00	No comment
RPGRIP1L	96.40	No comment
RRM2B	100.00	No comment
SACS	99.95	No comment
SAMD9L	100.00	No comment
SAMHD1	100.00	No comment
SAR1B	100.00	No comment
SCN8A	100.00	No comment
SEC16A	99.98	No comment
SEPSECS	99.57	No comment
SERAC1	100.00	No comment
SETX	100.00	No comment
SIL1	99.95	No comment
SKOR1	98.57	No comment
SLC16A2	99.97	No comment
SLC17A5	100.00	No comment
SLC19A3	99.90	No comment
SLC1A3	100.00	No comment
SLC20A2	100.00	No comment
SLC25A15	100.00	No comment
SLC25A46	100.00	No comment
SLC2A1	100.00	No comment
SLC39A8	98.92	No comment
SLC52A2	100.00	No comment
SLC52A3	99.86	No comment
SLC9A1	100.00	No comment
SLC9A6	99.66	No comment
SMPD1	100.00	No comment
SNX14	99.98	No comment
SPAST	99.83	No comment
SPG11	100.00	No comment
SPG7	95.78	No comment
SPR	99.98	No comment
SPTBN2	99.93	No comment
SRD5A3	98.61	No comment
STUB1	99.69	No comment
SYNE1	100.00	No comment
SYT14	92.28	No comment
TANGO2	99.94	No comment
TBC1D20	95.06	No comment
TBCC	100.00	No comment
TBP	100.00	No comment
TCTN1	100.00	No comment
TCTN2	100.00	No comment
TCTN3	100.00	No comment
TDP1	100.00	No comment
TDP2	100.00	No comment
TGM6	100.00	No comment
TK2	100.00	No comment
TMEM138	100.00	No comment
TMEM216	99.87	No comment
TMEM231	100.00	No comment
TMEM237	99.85	No comment
TMEM240	96.75	No comment
TMEM67	99.95	No comment
ACD	99.99	No comment
TRIM32	100.00	No comment
TRPC3	99.48	No comment
TSEN2	100.00	No comment
TSEN34	100.00	No comment
TSEN54	91.60	No comment
TSFM	100.00	No comment
TTBK2	100.00	No comment
TTC19	100.00	No comment
TTC8	99.73	No comment
TTPA	96.80	No comment
TUBB4A	100.00	No comment
TUBG1	100.00	No comment
TYMP	100.00	No comment
UBA5	100.00	No comment
VAMP1	100.00	No comment
VLDLR	96.00	No comment
VPS13A	100.00	No comment
VPS13B	100.00	No comment
VPS13D	100.00	No comment
VRK1	100.00	No comment
VWA3B	100.00	No comment
WDPCP	99.11	No comment
WDR73	100.00	No comment
WDR81	99.63	No comment
WFS1	100.00	No comment
WWOX	100.00	No comment
XPA	98.10	No comment
XPC	100.00	No comment
XPR1	99.91	No comment
XRCC1	99.95	No comment
ZC4H2	100.00	No comment
ZFYVE26	100.00	No comment
ZNF423	100.00	No comment
ZNF592	100.00	No comment

Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
A2ML1	100.00
AAGAB	97.88
ABCA12	100.00
ABCB6	100.00
ABCC6	99.97
ABHD5	100.00
ACD	100.00
ADAM10	100.00
ADAMTS2	95.82
ADAR	100.00
AIM1	100.00
AKT1	100.00
ALDH18A1	100.00
ALDH3A2	99.94
ALOX12B	100.00
ALOXE3	100.00
ANTXR1	100.00
AP1S1	100.00
AP3B1	100.00
APCDD1	99.97
AQP5	99.87
ARHGAP31	100.00
ARSL	99.95
ASAH1	100.00
ATM	100.00
ATP2A2	100.00
ATP2C1	100.00
ATP6V0A2	99.98
ATP6V1A	100.00
ATP6V1E1	99.99
ATP7A	100.00
AXIN2	100.00
B3GALT6	63.11
B4GALT7	90.91
BANF1	97.55
BCS1L	100.00
BLM	100.00
BLOC1S3	95.69
BLOC1S6	100.00
BRAF	96.86
LRMDA	100.00
KDF1	100.00
CARD14	99.96
CBL	100.00
CBS	99.92
CD151	99.99
CDH3	100.00
CDK4	100.00
CDKN1B	100.00
CDKN2A	99.69
CDSN	99.93
CERS3	100.00
CHST14	99.81
CHST8	100.00
CHUK	99.59
CLCF1	100.00
CLDN1	100.00
CLDN10	100.00
COG6	100.00
COL11A1	100.00
COL12A1	100.00
COL17A1	100.00
COL1A1	100.00
COL1A2	99.41
COL3A1	99.99
COL5A1	98.23
COL5A2	100.00
COL7A1	100.00
CREBBP	99.98
CRLF1	89.67
CSTA	100.00
CTC1	99.71
CTSC	100.00
CYLD	100.00
CYP26C1	97.30
CYP4F22	99.27
DDB2	100.00
DIP2B	99.71
DKC1	99.92
DLL4	100.00
DLX3	99.95
DNMT1	99.69
DOCK6	99.13
DOLK	100.00
DSC3	98.96
DSE	100.00
DSG1	100.00
DSG2	99.89
DSG4	100.00
DSP	100.00
DST	100.00
DTNBP1	99.96
GLB1	100.00
ECM1	100.00
EDA	99.05
EDAR	100.00
EDARADD	100.00
EDN3	99.95
EDNRB	100.00
EFEMP2	100.00
ELN	99.96
ELOVL4	100.00
ENPP1	97.25
EOGT	100.00
EP300	100.00
EPG5	99.99
ERCC2	99.35
ERCC3	100.00
ERCC4	99.99
ERCC5	100.00
ERCC6	100.00
ERCC8	100.00
EVC	94.53
EVC2	98.69
EXPH5	100.00
F12	99.81
FAM111B	100.00
RETREG1	93.87
FAM83G	100.00
FBLN5	100.00
FBN1	100.00
FBN2	100.00
FERMT1	99.96
FGFR2	100.00
FGFR3	99.36
FH	100.00
FKBP14	100.00
FLCN	100.00
FGFR1	100.00
FLG2	100.00
FOXN1	100.00
FZD6	100.00
GALNT3	100.00
GAN	98.95
GBA1	100.00
GGCX	99.91
GHR	99.21
GJA1	100.00
GJB2	100.00
GJB3	100.00
GJB4	100.00
GJB6	100.00
GLA	100.00
GNAS	100.00
GORAB	100.00
GPR143	89.17
GRHL2	100.00
GSN	97.95
GTF2E2	100.00
GTF2H5	100.00
HAMP	100.00
HCCS	100.00
HDAC8	99.82
HFE	100.00
HJV	100.00
HGD	100.00
HLCS	100.00
HOXC13	96.56
HPGD	99.87
HPS1	100.00
HPS3	99.99
HPS4	99.99
HPS5	100.00
HPS6	96.32
HR	99.78
HRAS	100.00
IFT122	99.99
IFT43	100.00
ELP1	100.00
IKBKG	96.27
IL31RA	100.00
INSR	96.81
ITGA3	99.99
ITGA6	100.00
ITGB4	98.77
JUP	100.00
KANK2	99.99
KCNH1	100.00
KCTD1	100.00
KDM6A	99.63
KDSR	99.98
KIF1A	99.07
KIT	99.98
KITLG	100.00
KL	96.52
KLHL24	100.00
KLLN	100.00
KMT2D	99.99
KRAS	100.00
KREMEN1	92.10
KRT1	99.80
KRT10	99.93
KRT14	100.00
KRT16	99.48
KRT17	92.10
KRT2	100.00
KRT5	100.00
KRT6A	100.00
KRT6B	100.00
KRT6C	99.44
KRT71	99.95
KRT74	99.99
KRT81	100.00
KRT83	99.99
KRT85	99.27
KRT86	99.98
KRT9	100.00
LAMA4	99.75
LAMB3	100.00
LAMC2	99.43
LEMD3	99.97
LIPH	100.00
LIPN	100.00
LMNA	99.52
LMX1B	99.55
LORICRIN	100.00
LPAR6	100.00
LRP1	100.00
LTBP4	99.49
LYST	100.00
LZTR1	99.92
MAP2K1	100.00
MAP2K2	99.99
MAPRE2	100.00
MBTPS2	100.00
MC1R	100.00
MEN1	99.83
MITF	100.00
MLH1	99.99
MLPH	100.00
MMP1	99.99
MMP2	99.93
MPDU1	100.00
MPLKIP	100.00
MSH2	100.00
MSH6	99.92
MSMO1	100.00
MSX1	99.53
MUTYH	100.00
MYO5A	99.78
NF1	98.85
NF2	99.97
NFKBIA	99.97
NGF	100.00
NHP2	100.00
NIPAL4	100.00
NIPBL	99.62
RMRP	100.00
NOP10	100.00
NOTCH1	98.81
NRAS	100.00
NSDHL	100.00
NTRK1	98.91
OCA2	99.73
OFD1	97.68
ORAI1	93.55
OSMR	100.00
PADI3	100.00
PARN	100.00
PAX3	100.00
PDGFRB	100.00
PEX7	96.12
PHYH	99.87
PIGL	100.00
PIK3CA	100.00
PKP1	100.00
PLCD1	99.74
PLEC	99.33
PLOD1	98.77
PLOD3	99.97
PMS2	98.83
PNPLA1	99.66
POFUT1	99.99
POGLUT1	100.00
POLD1	99.84
POLH	100.00
NT5C3A	100.00
PORCN	99.13
PPP1CB	100.00
PRDM12	83.27
PRDM5	100.00
PRKAR1A	100.00
PRKD1	97.12
PSAT1	99.73
PSENEN	100.00
PTCH1	99.03
PTCH2	100.00
PTDSS1	100.00
PTEN	99.64
PTPN11	94.81
NECTIN1	99.68
NECTIN4	99.41
PYCR1	100.00
RAB27A	100.00
RAD21	100.00
RAF1	100.00
RASA2	99.74
RBPJ	99.69
RECQL4	96.90
RET	96.88
RHBDF2	100.00
RIN2	100.00
RIPK4	99.98
RIT1	100.00
RNF113A	100.00
RPL21	84.30
RRAS	98.63
RSPO1	100.00
RTEL1	100.00
SASH1	99.88
SCN11A	99.99
SCN9A	99.99
SDHB	99.35
SDHD	99.95
SEC23B	100.00
SERPINB7	100.00
SERPINB8	100.00
SERPING1	97.68
SETBP1	100.00
SGPL1	100.00
SHOC2	100.00
HHAT	93.18
SKIC2	100.00
SLC24A5	100.00
SLC27A4	99.97
SLC29A3	95.73
SLC2A10	97.06
SLC39A13	100.00
SLC39A4	100.00
SLC45A2	100.00
SLC6A19	99.99
SLURP1	100.00
SMAD3	100.00
SMARCAD1	99.97
SMARCB1	100.00
SMC3	100.00
SMPD1	100.00
SNAI2	100.00
SNAP29	100.00
SNRPE	99.04
SOS1	100.00
SOS2	99.97
SOX10	97.31
SPINK5	100.00
SPRED1	100.00
SPRY1	100.00
SPTLC1	99.44
SRD5A3	98.97
ST14	99.95
STK11	99.81
STS	99.94
SUFU	100.00
SULT2B1	100.00
SUMF1	100.00
TAT	100.00
TCHH	100.00
TERT	93.51
TFR2	100.00
TGFB2	99.97
TGFB3	100.00
TGFBR1	91.97
TGFBR2	100.00
TGM1	100.00
TGM3	100.00
TGM5	100.00
TINF2	99.96
TMC6	99.87
TNXB	100.00
TP63	100.00
TRPS1	100.00
TRPV3	99.99
TSC1	100.00
TSC2	99.99
SKIC3	99.99
TUBB	100.00
TWIST2	99.15
TYR	100.00
TYRP1	100.00
UBR1	100.00
USB1	100.00
UVSSA	100.00
VPS33B	100.00
WDR19	100.00
WDR35	100.00
WNK1	100.00
WNT10A	94.15
WRAP53	100.00
WRN	100.00
XPA	97.89
XPC	100.00
ZMPSTE24	100.00
ZNF469	99.97
ZNF750	100.00
TERC	100.00	t

Intellectual disability (gene panel)

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
A2ML1	97.92	No comment
AAAS	98.73	No comment
AARS1	98.82	No comment
AASS	98.51	No comment
ABAT	99.40	No comment
ABCB11	98.30	No comment
ABCB7	94.65	No comment
ABCC6	99.58	No comment
ABCC8	99.33	No comment
ABCC9	99.05	No comment
ABCD1	97.12	No comment
ABCD4	98.90	No comment
ABCG5	99.05	No comment
ABHD12	89.63	No comment
ABHD5	97.97	No comment
ACAD9	99.34	No comment
ACADM	97.15	No comment
ACADS	99.06	No comment
ACADSB	96.29	No comment
ACADVL	98.55	No comment
ACAN	98.12	No comment
ACAT1	97.08	No comment
ACBD6	99.00	No comment
ACE2	97.24	No comment
ACIN1	99.19	No comment
ACO2	98.76	No comment
ACOT9	97.29	No comment
ACOX1	98.24	No comment
ACP5	98.80	No comment
ACSF3	99.18	No comment
ACSL4	91.66	No comment
ACTA2	99.56	No comment
ACTB	99.87	No comment
ACTG1	99.91	No comment
ACTL6A	99.12	No comment
ACTL6B	98.82	No comment
ACVR1	99.30	No comment
ACY1	99.53	No comment
ADA	98.79	No comment
ADAM22	97.86	No comment
ADAMTS10	99.11	No comment
ADAR	99.42	No comment
ADARB1	93.73	No comment
ADAT3	98.92	No comment
COQ8A	99.33	No comment
ADCY5	95.67	No comment
ADD3	99.21	No comment
ADK	98.15	No comment
ADNP	99.77	No comment
ADPRS	96.99	No comment
ADRA2B	99.24	No comment
ADSL	99.02	No comment
AFF2	96.88	No comment
AFF3	99.12	No comment
AFF4	99.25	No comment
AFG3L2	96.83	No comment
AFP	98.35	No comment
AGA	99.31	No comment
AGK	99.23	No comment
AGL	98.86	No comment
AGMO	98.98	No comment
AGO1	99.33	No comment
AGPAT2	95.70	No comment
AGPS	96.48	No comment
AGT	99.43	No comment
AGTR2	99.44	No comment
AGXT	99.20	No comment
AHCY	99.37	No comment
AHDC1	99.43	No comment
AHI1	98.72	No comment
AIFM1	96.67	No comment
AIMP1	96.59	No comment
AIMP2	99.14	No comment
AIPL1	99.50	No comment
AIRE	97.18	No comment
AK1	99.47	No comment
AK2	98.26	No comment
AKAP17A	96.52	No comment
AKAP4	99.11	No comment
AKAP6	99.28	No comment
AKR1C2	99.87	No comment
AKR1D1	99.35	No comment
AKT1	99.32	No comment
AKT3	97.83	No comment
ALAD	99.59	No comment
ALDH18A1	99.49	No comment
ALDH1A3	96.21	No comment
ALDH3A2	98.54	No comment
ALDH4A1	98.01	No comment
ALDH5A1	96.17	No comment
ALDH7A1	98.33	No comment
ALDOA	99.58	No comment
ALDOB	99.46	No comment
ALG1	99.07	No comment
ALG11	99.81	No comment
ALG12	99.70	No comment
ALG13	91.46	No comment
ALG14	98.86	No comment
ALG2	99.56	No comment
ALG3	98.85	No comment
ALG6	98.37	No comment
ALG8	99.11	No comment
ALG9	98.84	No comment
ALKBH8	98.86	No comment
ALMS1	99.15	No comment
ALPL	99.07	No comment
ALS2	98.98	No comment
ALX1	99.69	No comment
ALX3	96.22	No comment
ALX4	99.35	No comment
AMER1	99.70	No comment
AMPD2	99.08	No comment
AMT	99.79	No comment
ANK3	99.57	No comment
ANKH	99.15	No comment
ANKRD11	97.84	No comment
ANO10	98.75	No comment
ANO3	99.47	No comment
ANO5	99.01	No comment
ANTXR1	94.84	No comment
AP1B1	99.25	No comment
AP1S1	95.66	No comment
AP1S2	85.55	No comment
AP2M1	98.28	No comment
AP3B1	98.71	No comment
AP3B2	98.28	No comment
AP4B1	99.39	No comment
AP4E1	98.53	No comment
AP4M1	99.53	No comment
AP4S1	99.30	No comment
AP5Z1	98.97	No comment
APC2	94.47	No comment
COA8	95.39	No comment
APTX	98.38	No comment
AQP7	99.87	No comment
AR	95.56	No comment
ARCN1	96.22	No comment
ARFGEF2	98.65	No comment
ARG1	99.07	No comment
ARHGAP31	99.50	No comment
ARHGAP36	98.64	No comment
ARHGAP6	95.05	No comment
ARHGEF2	98.52	No comment
ARHGEF4	99.40	No comment
ARHGEF6	94.23	No comment
ARHGEF9	96.24	No comment
ARID1A	97.52	No comment
ARID1B	95.00	No comment
ARID2	99.53	No comment
ARIH1	98.86	No comment
ARL13B	97.87	No comment
ARL14EP	97.37	No comment
ARL6	98.82	No comment
ODAD2	98.89	No comment
ARMC9	98.71	No comment
ARSA	99.35	No comment
ARSB	96.85	No comment
ARSL	94.37	No comment
ARSF	93.30	No comment
ARV1	99.17	No comment
ARX	75.98	No comment
ASAH1	98.03	No comment
ASB12	96.10	No comment
ASCC3	98.81	No comment
ASCL1	98.32	No comment
ASH1L	99.56	No comment
ASL	98.41	No comment
ASMT	92.35	No comment
ASMTL	99.94	No comment
ASNS	99.40	No comment
ASPA	98.77	No comment
ASPH	98.90	No comment
ASPM	99.12	No comment
ASS1	99.61	No comment
ASTN1	99.12	No comment
ASXL1	99.32	No comment
ASXL2	94.54	No comment
ASXL3	98.97	No comment
ATAD1	95.52	No comment
ATAD3A	98.34	No comment
ATCAY	99.48	No comment
ATIC	98.97	No comment
ATL1	96.64	No comment
ATM	98.13	No comment
ATN1	98.73	No comment
ATP13A2	99.25	No comment
ATP1A1	98.42	No comment
ATP1A2	98.77	No comment
ATP1A3	99.51	No comment
ATP2A2	98.83	No comment
ATP2B3	97.71	No comment
ATP6AP1	96.58	No comment
ATP6AP2	93.72	No comment
ATP6V0A2	99.30	No comment
ATP6V1A	97.97	No comment
ATP6V1B1	98.05	No comment
ATP6V1B2	98.55	No comment
ATP7A	96.22	No comment
ATP7B	99.52	No comment
ATP8A2	99.53	No comment
ATP8B1	98.96	No comment
ATR	98.89	No comment
ATRX	95.60	No comment
ATXN1	99.33	No comment
ATXN10	98.33	No comment
ATXN2	91.35	No comment
ATXN3	98.93	No comment
ATXN3L	99.08	No comment
ATXN7	95.21	No comment
AUH	99.00	No comment
AUTS2	98.29	No comment
AVP	86.48	No comment
AVPR2	99.55	No comment
AWAT2	98.86	No comment
B3GALNT2	96.88	No comment
B3GALT6	74.99	No comment
B3GLCT	95.44	No comment
B4GALNT1	98.73	No comment
B4GALT1	97.25	No comment
B4GALT7	93.89	No comment
B9D1	98.92	No comment
BBS1	99.26	No comment
BBS10	99.67	No comment
BBS12	99.69	No comment
BBS2	98.90	No comment
BBS4	98.91	No comment
BBS5	98.35	No comment
BBS7	99.11	No comment
BBS9	98.84	No comment
BCAP31	92.90	No comment
BCKDHA	99.19	No comment
BCKDHB	99.14	No comment
BCKDK	98.03	No comment
BCL11A	99.29	No comment
BCL11B	95.65	No comment
BCOR	98.20	No comment
BCORL1	98.79	No comment
BCS1L	99.07	No comment
BDP1	99.48	No comment
BEAN1	99.42	No comment
BFSP2	99.16	No comment
BGN	97.15	No comment
BHLHA9	83.99	No comment
BICD2	99.34	No comment
BIN1	99.27	No comment
BLM	97.69	No comment
BMP15	94.45	No comment
BMP4	99.03	No comment
BMPER	99.17	No comment
BMPR1B	99.45	No comment
BOLA3	98.55	No comment
BPIFB6	98.75	No comment
BPTF	96.21	No comment
BRAF	97.62	No comment
BRAT1	98.61	No comment
BRCA1	99.65	No comment
BRCA2	98.74	No comment
BRD4	90.53	No comment
BRF1	97.49	No comment
BRIP1	98.87	No comment
BRPF1	99.09	No comment
BRSK2	97.89	No comment
BRWD3	96.19	No comment
BSCL2	99.32	No comment
BSND	99.48	No comment
BTD	99.63	No comment
BTK	96.82	No comment
BUB1B	98.89	No comment
C12ORF4	98.72	No comment
C12ORF57	99.66	No comment
MTRFR	98.21	No comment
CCDC32	98.00	No comment
VPS35L	98.65	No comment
C19ORF12	98.79	No comment
C2CD3	98.92	No comment
PCARE	98.64	No comment
DIPK2A	99.10	No comment
ODAPH	99.74	No comment
CPLANE1	98.94	No comment
CFAP418	98.78	No comment
C9ORF72	98.10	No comment
CA2	99.35	No comment
CA5A	99.23	No comment
CA8	99.30	No comment
CACNA1A	98.14	No comment
CACNA1B	96.02	No comment
CACNA1C	99.14	No comment
CACNA1D	99.31	No comment
CACNA1E	99.29	No comment
CACNA1F	97.17	No comment
CACNA1G	99.06	No comment
CACNA1H	98.12	No comment
CACNA1S	98.76	No comment
CACNA2D2	95.24	No comment
CACNA2D3	98.17	No comment
CACNB4	99.35	No comment
CACNG2	99.57	No comment
CAD	99.05	No comment
CAMK2A	99.63	No comment
CAMK2B	97.56	No comment
CAMK2G	96.97	No comment
CAMTA1	99.08	No comment
CANT1	98.12	No comment
CAP1	99.44	No comment
CAPN10	99.27	No comment
CAPRIN1	99.09	No comment
CAPZA2	96.21	No comment
CARS1	99.79	No comment
CARS2	96.59	No comment
KNL1	96.88	No comment
CASK	95.86	No comment
CASP2	99.05	No comment
CASR	99.36	No comment
CBL	98.79	No comment
CBS	99.88	No comment
CC2D1A	98.90	No comment
CC2D2A	98.66	No comment
CCBE1	98.76	No comment
CCDC103	99.47	No comment
ODAD1	99.10	No comment
CCDC115	99.59	No comment
CCDC22	97.58	No comment
SVBP	99.76	No comment
CCDC39	98.58	No comment
CCDC40	98.68	No comment
CEP83	98.29	No comment
CCDC47	98.08	No comment
CCDC65	99.18	No comment
CCDC78	99.72	No comment
CCDC8	99.54	No comment
CCDC88A	98.66	No comment
CCDC88C	99.06	No comment
CCNA2	99.24	No comment
CCNB3	99.08	No comment
CCND2	98.80	No comment
CCNO	99.50	No comment
CCT5	98.48	No comment
CD96	98.95	No comment
CD99	99.96	No comment
CDC42	98.38	No comment
CDC42BPB	99.25	No comment
CDC45	99.38	No comment
CDC6	98.74	No comment
CDH11	99.46	No comment
CDH15	99.37	No comment
CDH2	99.12	No comment
CDH23	98.80	No comment
CDH3	99.16	No comment
CDK10	99.78	No comment
CDK13	95.98	No comment
CDK16	98.07	No comment
CDK19	99.08	No comment
CDK5R1	99.67	No comment
CDK5RAP2	99.35	No comment
CDK8	96.11	No comment
CDKL5	93.83	No comment
CDKN1C	86.67	No comment
CDON	98.33	No comment
CDT1	91.10	No comment
CENPF	98.91	No comment
CENPJ	99.50	No comment
CEP104	99.17	No comment
CEP135	96.95	No comment
CEP152	98.51	No comment
CEP290	98.38	No comment
CEP41	98.54	No comment
CEP55	99.06	No comment
CEP57	98.39	No comment
CEP63	98.63	No comment
CFP	97.99	No comment
CHAMP1	99.90	No comment
CHD2	98.65	No comment
CHD3	98.02	No comment
CHD4	99.40	No comment
CHD7	99.13	No comment
CHD8	99.13	No comment
CHKB	97.91	No comment
DDX11	98.90	No comment
CHM	89.56	No comment
CHMP1A	98.78	No comment
CHRDL1	97.84	No comment
CHRNA2	99.41	No comment
CHRNA4	98.72	No comment
CHRNB2	99.57	No comment
CHRNG	99.02	No comment
CHST14	98.06	No comment
CHST3	99.63	No comment
CHSY1	93.60	No comment
CHUK	98.09	No comment
CIB2	98.54	No comment
CIC	98.17	No comment
CISD2	97.44	No comment
CIT	99.14	No comment
CKAP2L	99.24	No comment
CLCN2	99.53	No comment
CLCN4	98.32	No comment
CLCN5	98.19	No comment
CLCN7	97.43	No comment
CLCNKA	99.53	No comment
CLCNKB	99.55	No comment
CLDN19	98.68	No comment
CLIC2	95.82	No comment
CLN3	99.63	No comment
CLN5	98.95	No comment
CLN6	94.08	No comment
CLN8	99.98	No comment
CLP1	99.53	No comment
CLPB	98.72	No comment
CLPP	98.67	No comment
CLTC	98.69	No comment
CMC4	96.87	No comment
CNKSR1	99.49	No comment
CNKSR2	95.65	No comment
CNNM2	99.22	No comment
CNOT1	98.98	No comment
CNOT2	99.08	No comment
CNOT3	98.24	No comment
CNTN3	99.26	No comment
CNTN4	99.15	No comment
CNTNAP2	99.12	No comment
COA3	99.34	No comment
COA5	99.73	No comment
COASY	98.90	No comment
COG1	99.22	No comment
COG4	99.26	No comment
COG5	98.95	No comment
COG6	98.53	No comment
COG7	99.10	No comment
COG8	99.58	No comment
COL10A1	98.73	No comment
COL11A1	99.16	No comment
COL11A2	99.40	No comment
COL18A1	98.80	No comment
COL1A1	98.56	No comment
COL1A2	99.53	No comment
COL25A1	99.68	No comment
COL2A1	99.63	No comment
COL4A1	98.90	No comment
COL4A2	98.81	No comment
COL4A3	98.60	No comment
CERT1	98.80	No comment
COL4A4	99.18	No comment
COL4A6	96.60	No comment
COL6A1	99.30	No comment
COL6A3	99.58	No comment
COL9A1	99.37	No comment
COL9A2	99.12	No comment
COL9A3	95.16	No comment
COLEC10	98.66	No comment
COLEC11	99.77	No comment
COMP	99.30	No comment
COQ2	97.65	No comment
COQ4	98.65	No comment
COQ5	98.41	No comment
COQ9	98.96	No comment
COX10	99.59	No comment
COX14	97.55	No comment
COX15	99.27	No comment
COX6B1	99.22	No comment
COX7B	98.33	No comment
CP	98.56	No comment
CPA6	99.18	No comment
HOMER2	98.16	No comment
CPS1	99.26	No comment
CPXCR1	98.61	No comment
CRADD	98.71	No comment
CRB1	99.41	No comment
CRB2	98.33	No comment
CRBN	99.00	No comment
CREBBP	99.20	No comment
CRLF2	96.34	No comment
CRX	99.30	No comment
CRYAA	99.93	No comment
CRYBA1	99.47	No comment
CRYBA4	99.30	No comment
CRYBB1	99.71	No comment
CRYBB2	99.21	No comment
CRYBB3	97.71	No comment
CRYGC	99.70	No comment
CRYGD	99.70	No comment
CSDE1	99.37	No comment
CSF1R	98.97	No comment
CSF2RA	88.66	No comment
CSNK1G1	98.84	No comment
CSNK2A1	99.27	No comment
CSNK2B	99.56	No comment
CSPP1	98.55	No comment
CSTB	99.72	No comment
CSTF2	95.94	No comment
CTBP1	96.89	No comment
CTC1	99.15	No comment
CTCF	98.88	No comment
CTDP1	96.55	No comment
CCN2	97.14	No comment
CTNNA2	98.80	No comment
CTNNB1	99.57	No comment
CTNND2	94.20	No comment
CTNS	99.36	No comment
CTPS2	96.99	No comment
CTSA	99.45	No comment
CTSD	99.18	No comment
CTSF	96.71	No comment
CTSK	99.73	No comment
CTTNBP2	99.25	No comment
CTU2	98.59	No comment
CUL3	98.83	No comment
CUL4B	92.06	No comment
CUL7	99.50	No comment
CUX1	96.61	No comment
CUX2	98.80	No comment
CWC27	97.65	No comment
CWF19L1	98.83	No comment
CFAP47	93.78	No comment
STEEP1	92.87	No comment
CXorf58	94.93	No comment
CYB5R3	97.94	No comment
CYC1	91.11	No comment
CYFIP2	98.67	No comment
CYP1B1	99.46	No comment
CYP27A1	99.02	No comment
CYP2U1	96.42	No comment
CYP7B1	97.88	No comment
D2HGDH	99.43	No comment
DAB1	98.49	No comment
DACT1	97.23	No comment
DAG1	99.84	No comment
DARS1	97.83	No comment
DARS2	98.51	No comment
DBT	98.43	No comment
DCAF17	98.20	No comment
DCC	99.25	No comment
DCHS1	99.42	No comment
DCHS2	96.72	No comment
DCPS	99.51	No comment
DCTN1	99.19	No comment
DCX	97.69	No comment
DDB2	99.44	No comment
DDC	98.92	No comment
DDHD1	98.96	No comment
DDHD2	97.51	No comment
DDOST	99.21	No comment
DDR2	98.02	No comment
INTS6L	94.69	No comment
DDX3X	94.86	No comment
DDX53	99.21	No comment
RIGI	98.54	No comment
DDX59	98.74	No comment
DDX6	99.28	No comment
DEAF1	94.52	No comment
DECR1	98.30	No comment
DEGS1	98.48	No comment
DENND5A	98.76	No comment
DEPDC5	98.88	No comment
DGKH	97.01	No comment
DHCR24	99.02	No comment
DHCR7	99.47	No comment
DHDDS	97.02	No comment
DHFR	96.94	No comment
DHODH	99.05	No comment
DHPS	98.61	No comment
DHRSX	91.20	No comment
DHTKD1	98.94	No comment
DHX30	98.83	No comment
DIAPH1	91.23	No comment
DIAPH2	87.29	No comment
DIP2B	98.90	No comment
DIS3L2	98.91	No comment
DKC1	93.86	No comment
DLAT	98.39	No comment
DLD	98.88	No comment
DLG1	98.14	No comment
DLG2	99.29	No comment
DLG3	97.25	No comment
DLG4	99.13	No comment
DLGAP2	99.74	No comment
DLL3	86.64	No comment
DLL4	99.36	No comment
DMD	96.45	No comment
DMP1	99.65	No comment
DMPK	99.32	No comment
DMXL2	98.36	No comment
DNA2	98.22	No comment
DNAAF3	98.65	No comment
DNAJC12	99.66	No comment
DNAJC19	96.91	No comment
DNAJC3	96.14	No comment
DNM1	97.82	No comment
DNM1L	98.63	No comment
DNM2	98.34	No comment
DNMT1	98.21	No comment
DNMT3A	99.20	No comment
DNMT3B	99.29	No comment
DOCK11	92.03	No comment
DOCK3	98.52	No comment
DOCK6	99.05	No comment
DOCK7	98.51	No comment
DOCK8	99.20	No comment
DOLK	99.80	No comment
DONSON	96.21	No comment
DPAGT1	99.38	No comment
DPF1	98.48	No comment
DPF2	99.34	No comment
DPF3	99.50	No comment
DPH1	99.38	No comment
DPM1	99.42	No comment
DPM2	99.20	No comment
DPM3	99.69	No comment
DPP6	92.06	No comment
DPYD	99.12	No comment
DRD2	99.36	No comment
DSCAM	98.89	No comment
VPS26C	99.43	No comment
DSPP	98.82	No comment
DST	98.99	No comment
DSTYK	99.35	No comment
DVL1	99.68	No comment
DVL3	98.80	No comment
DYM	97.55	No comment
DYNC1H1	99.37	No comment
DYNC1I2	98.87	No comment
DYNC2H1	97.67	No comment
DYRK1A	99.47	No comment
DNAAF4	98.09	No comment
EBF3	99.40	No comment
EBP	98.55	No comment
ECEL1	97.04	No comment
EDA	97.49	No comment
EDNRA	99.24	No comment
EDNRB	98.60	No comment
EED	97.73	No comment
EEF1A2	92.77	No comment
EEF1B2	97.60	No comment
EFHC1	98.17	No comment
EFNB1	98.53	No comment
EFTUD2	98.05	No comment
EGR2	99.61	No comment
EHMT1	98.17	No comment
EIF2A	97.83	No comment
EIF2AK1	98.91	No comment
EIF2AK3	97.90	No comment
EIF2S3	97.86	No comment
EIF3F	99.59	No comment
EIF4A3	99.56	No comment
EIF4G1	99.24	No comment
ELAC2	99.51	No comment
ELK1	98.30	No comment
ELN	99.54	No comment
ELOVL4	99.51	No comment
ELOVL5	98.85	No comment
ELP2	99.00	No comment
EMC1	99.43	No comment
EMG1	99.17	No comment
EML1	98.84	No comment
EMX2	99.75	No comment
EN2	95.92	No comment
ENOX2	95.88	No comment
ENPP1	95.08	No comment
TEPSIN	99.67	No comment
ENTPD1	97.83	No comment
EOGT	90.07	No comment
EOMES	99.11	No comment
EP300	99.21	No comment
EPB41L1	99.19	No comment
EPG5	98.98	No comment
EPM2A	91.75	No comment
EPPK1	99.37	No comment
SELENOI	98.64	No comment
ERCC1	97.35	No comment
ERCC2	98.26	No comment
ERCC3	99.57	No comment
ERCC4	99.08	No comment
ERCC5	99.17	No comment
ERCC6	99.25	No comment
ERCC6L2	98.36	No comment
ERCC8	99.23	No comment
ERF	99.27	No comment
ERLIN2	99.21	No comment
ERMARD	99.76	No comment
ESCO2	97.40	No comment
ESX1	96.03	No comment
ETFA	97.87	No comment
ETFB	99.51	No comment
ETFDH	97.92	No comment
ETHE1	98.75	No comment
EVC	94.14	No comment
EVC2	97.83	No comment
EXOSC3	98.97	No comment
EXOSC8	98.32	No comment
EXT1	99.14	No comment
EXT2	99.43	No comment
EXTL3	99.80	No comment
EYA1	99.11	No comment
EZH2	96.67	No comment
F5	99.15	No comment
FA2H	97.25	No comment
FAAH2	92.70	No comment
FAH	96.88	No comment
OTULIN	89.08	No comment
FAM111A	99.59	No comment
FAM111B	99.76	No comment
FAM120C	96.47	No comment
HYCC1	99.23	No comment
RETREG1	97.37	No comment
FHIP2A	97.70	No comment
FAM161A	99.42	No comment
FAM20A	94.00	No comment
FAM20C	96.33	No comment
FAM47B	99.81	No comment
CCNQ	84.67	No comment
FANCA	98.47	No comment
FANCB	97.15	No comment
FANCC	99.30	No comment
FANCD2	99.02	No comment
FANCE	95.74	No comment
FANCF	99.29	No comment
FANCG	98.43	No comment
FANCI	98.29	No comment
FAR1	97.96	No comment
FARS2	99.13	No comment
FASN	99.66	No comment
FAT4	99.73	No comment
FBLN5	97.72	No comment
FBN1	99.18	No comment
FBN2	99.13	No comment
FBP1	99.54	No comment
FBXL3	98.89	No comment
FBXL4	99.22	No comment
FBXO11	98.18	No comment
FBXO25	98.32	No comment
FBXO7	99.44	No comment
FBXO8	99.00	No comment
FBXW11	98.85	No comment
FBXW4	98.88	No comment
FDFT1	96.29	No comment
FDXR	99.16	No comment
FEM1B	98.39	No comment
FGD1	95.65	No comment
FGD4	97.87	No comment
FGF10	98.79	No comment
FGF12	99.23	No comment
FGF14	99.47	No comment
FGF3	95.52	No comment
FGFR1	99.06	No comment
FGFR2	99.55	No comment
FGFR3	98.01	No comment
FH	98.88	No comment
FHL1	98.74	No comment
FIBP	99.40	No comment
FIG4	98.99	No comment
FKBP14	98.92	No comment
FKBP6	99.52	No comment
FKBPL	99.97	No comment
FKRP	97.44	No comment
FKTN	98.78	No comment
FLAD1	99.48	No comment
FLNA	98.47	No comment
FLNB	98.87	No comment
FLT4	98.94	No comment
FLVCR1	98.36	No comment
FLVCR2	99.65	No comment
FMN2	96.08	No comment
FMR1	96.13	No comment
FOLR1	99.56	No comment
FOXC1	91.49	No comment
FOXC2	93.24	No comment
FOXE1	88.43	No comment
FOXE3	70.11	No comment
FOXF1	98.60	No comment
FOXG1	78.93	No comment
FOXN1	99.64	No comment
FOXP1	98.65	No comment
FOXP2	98.84	No comment
FOXP3	95.40	No comment
FOXRED1	98.46	No comment
FRAS1	98.89	No comment
FREM1	99.07	No comment
FREM2	99.25	No comment
FRMD7	97.20	No comment
FRMPD4	97.55	No comment
FRRS1L	82.94	No comment
FRY	99.11	No comment
FTCD	98.94	No comment
FTL	97.48	No comment
FTO	99.41	No comment
FTSJ1	98.72	No comment
FUCA1	98.66	No comment
FCSK	99.13	No comment
FUT8	98.58	No comment
FXN	96.73	No comment
FYCO1	99.38	No comment
FZD3	99.31	No comment
FZD6	99.22	No comment
G6PC3	99.48	No comment
GAA	99.39	No comment
GAB3	94.68	No comment
GABBR2	96.86	No comment
GABRA1	99.65	No comment
GABRA2	99.34	No comment
GABRA5	99.43	No comment
GABRB2	98.99	No comment
GABRB3	99.65	No comment
GABRG2	91.85	No comment
GABRG3	99.67	No comment
GABRQ	96.87	No comment
GAD1	99.31	No comment
GALC	98.53	No comment
GALE	98.79	No comment
GALK1	99.12	No comment
GALNS	98.20	No comment
GALNT2	99.25	No comment
GALT	99.67	No comment
GAMT	98.08	No comment
GAN	98.97	No comment
GAS8	98.96	No comment
GATA2	99.39	No comment
GATA4	94.57	No comment
GATA6	90.43	No comment
GATAD2B	99.84	No comment
GATM	99.31	No comment
GBA1	99.80	No comment
GBA2	99.40	No comment
GBE1	98.14	No comment
GCDH	99.26	No comment
GCH1	98.31	No comment
GCK	99.00	No comment
GCSH	98.69	No comment
GDAP1	99.61	No comment
GDF5	98.79	No comment
GDF6	95.02	No comment
GDI1	96.43	No comment
GEMIN4	99.84	No comment
GFAP	99.47	No comment
GFER	96.28	No comment
GFM1	98.59	No comment
GHR	98.44	No comment
GIGYF2	98.79	No comment
GJA1	99.86	No comment
GJA3	98.78	No comment
GJA8	99.16	No comment
GJB1	99.27	No comment
GJB2	99.76	No comment
GJB3	99.85	No comment
GJC2	86.86	No comment
GK	95.46	No comment
GLB1	99.09	No comment
GLDC	98.46	No comment
GLE1	99.11	No comment
GLI2	98.54	No comment
GLI3	99.24	No comment
GLIS3	99.02	No comment
GLMN	98.58	No comment
GLRA1	98.32	No comment
GLRA2	91.37	No comment
GLUD1	97.56	No comment
GLUL	99.52	No comment
GLYCTK	99.68	No comment
GM2A	99.64	No comment
GMNN	96.21	No comment
GMPPA	99.75	No comment
GMPPB	98.26	No comment
GNAI1	98.99	No comment
GNAI2	98.07	No comment
GNAI3	97.86	No comment
GNAL	97.43	No comment
GNAO1	98.80	No comment
GNAS	99.61	No comment
GNB1	98.37	No comment
GNB5	99.14	No comment
GNE	99.40	No comment
GNPAT	96.78	No comment
GNPTAB	99.40	No comment
GNPTG	97.82	No comment
GNS	99.15	No comment
GON4L	99.53	No comment
GORAB	98.74	No comment
GOSR2	99.40	No comment
GOT2	99.15	No comment
GPAA1	99.20	No comment
GPC3	95.93	No comment
GPC4	97.39	No comment
GPHN	99.23	No comment
ADGRG4	98.24	No comment
ADGRG6	98.33	No comment
GPR179	99.76	No comment
ADGRG1	99.61	No comment
ADGRV1	98.49	No comment
GPRASP1	99.60	No comment
GPSM2	98.63	No comment
GPT2	95.94	No comment
GRB14	97.87	No comment
GRHL3	98.78	No comment
GRIA1	98.02	No comment
GRIA2	98.58	No comment
GRIA3	92.43	No comment
GRIA4	98.61	No comment
GRID2	99.29	No comment
GRIK2	99.11	No comment
GRIN1	99.26	No comment
GRIN2A	99.71	No comment
GRIN2B	99.64	No comment
GRIN2D	78.36	No comment
GRIP1	99.51	No comment
GRM1	98.88	No comment
GRM6	93.42	No comment
GRN	99.81	No comment
GSPT2	99.68	No comment
GSS	99.18	No comment
GSX2	99.55	No comment
GTF2E2	98.84	No comment
GTF2H5	98.97	No comment
GTF3C3	98.70	No comment
GTPBP2	98.27	No comment
GTPBP3	98.65	No comment
GTPBP8	98.83	No comment
GUCY2C	99.16	No comment
GUSB	98.83	No comment
GYS2	99.38	No comment
H3-3A	99.28	No comment
H3-3B	99.69	No comment
HACE1	98.93	No comment
HADH	98.21	No comment
HADHA	99.44	No comment
HADHB	99.06	No comment
HARS2	97.76	No comment
HAUS7	95.60	No comment
HAX1	99.52	No comment
HCCS	97.34	No comment
HCFC1	97.80	No comment
HCN1	98.04	No comment
HDAC4	99.39	No comment
HDAC6	97.59	No comment
HDAC8	97.78	No comment
PUDP	97.74	No comment
HECW2	98.89	No comment
HEPACAM	98.19	No comment
HERC1	99.17	No comment
HERC2	99.81	No comment
HESX1	99.33	No comment
HEXA	99.52	No comment
HEXB	98.68	No comment
HGSNAT	93.69	No comment
HIBCH	99.31	No comment
HINT1	99.52	No comment
H1-4	98.83	No comment
H4C2	99.68	No comment
H4C3	99.67	No comment
H4C11	99.75	No comment
H3-4	99.95	No comment
HIVEP2	99.83	No comment
HK1	99.43	No comment
HLCS	95.35	No comment
HMGB3	95.15	No comment
HMGCL	99.25	No comment
HMGCS2	98.52	No comment
HNF1B	99.68	No comment
HNF4A	99.42	No comment
HNMT	99.40	No comment
HNRNPH2	98.98	No comment
HNRNPK	99.14	No comment
HNRNPR	99.29	No comment
HNRNPU	99.13	No comment
HOXA1	99.10	No comment
HOXA13	75.31	No comment
HOXC13	98.67	No comment
HOXD10	99.56	No comment
HOXD13	96.00	No comment
HPD	99.12	No comment
HPGD	98.68	No comment
HPRT1	91.01	No comment
HPS1	98.99	No comment
HPSE2	99.23	No comment
HR	98.73	No comment
HRAS	99.96	No comment
HS6ST2	98.48	No comment
HSD17B10	99.12	No comment
HSD17B4	98.53	No comment
HSD3B7	93.20	No comment
HSF4	98.76	No comment
HSPD1	99.48	No comment
HSPG2	99.24	No comment
HTRA2	98.32	No comment
HTT	98.29	No comment
HUWE1	96.58	No comment
HYAL1	99.27	No comment
HYDIN	98.89	No comment
HYLS1	99.56	No comment
IARS1	98.84	No comment
IARS2	98.71	No comment
IBA57	96.07	No comment
IDH2	94.56	No comment
IDS	97.02	No comment
IDUA	94.91	No comment
IER3IP1	98.58	No comment
IFIH1	98.73	No comment
IFITM5	99.18	No comment
IFNAR2	99.17	No comment
IFT122	98.98	No comment
IFT140	99.19	No comment
IFT172	99.43	No comment
IFT27	99.45	No comment
IFT43	99.37	No comment
IFT80	98.80	No comment
IGBP1	98.38	No comment
IGF1	98.50	No comment
IGF1R	99.32	No comment
IGF2	98.94	No comment
IGHMBP2	99.36	No comment
IGSF1	95.84	No comment
IHH	98.73	No comment
IKBKG	96.16	No comment
IL11RA	99.17	No comment
IL1RAPL1	97.07	No comment
IL1RAPL2	97.20	No comment
IL3RA	99.85	No comment
ILF2	99.02	No comment
BPNT2	99.21	No comment
INF2	94.80	No comment
INPP4A	99.16	No comment
INPP5E	98.98	No comment
INPP5K	99.11	No comment
INPPL1	98.07	No comment
INSR	96.93	No comment
INTS1	99.07	No comment
INTS6	98.76	No comment
INTS8	97.79	No comment
IQSEC1	96.84	No comment
IQSEC2	88.71	No comment
IQSEC3	99.28	No comment
IRAK1	94.66	No comment
IRF2BPL	97.48	No comment
IRF6	98.80	No comment
IRX5	98.01	No comment
ISCA2	99.85	No comment
CRPPA	86.74	No comment
ITCH	94.90	No comment
ITGA3	99.19	No comment
ITGA4	96.65	No comment
ITGA7	99.02	No comment
ITGB6	99.17	No comment
ITIH6	96.21	No comment
ITPA	99.87	No comment
ITPR1	98.49	No comment
IVD	99.26	No comment
JAG1	99.05	No comment
JAGN1	99.34	No comment
JAK3	98.80	No comment
JAM3	98.99	No comment
KANK1	98.55	No comment
KANSL1	99.38	No comment
KARS1	99.19	No comment
KAT5	99.33	No comment
KAT6A	99.45	No comment
KAT6B	99.14	No comment
KAT8	96.84	No comment
KATNAL2	99.21	No comment
KATNB1	99.24	No comment
KBTBD13	98.92	No comment
KCNA1	99.84	No comment
KCNA2	99.87	No comment
KCNB1	99.55	No comment
KCNC1	99.57	No comment
KCNC3	79.69	No comment
KCND1	97.45	No comment
KCND3	99.47	No comment
KCNE1	99.99	No comment
KCNH1	99.06	No comment
KCNH5	98.52	No comment
KCNJ10	99.06	No comment
KCNJ11	99.50	No comment
KCNJ6	99.58	No comment
KCNK12	94.89	No comment
KCNK4	98.87	No comment
KCNK9	99.78	No comment
KCNMA1	98.89	No comment
KCNN3	99.58	No comment
KCNQ1	94.82	No comment
KCNQ2	98.91	No comment
KCNQ3	97.63	No comment
KCNQ5	98.24	No comment
KCNT1	98.83	No comment
KCNT2	98.81	No comment
KCTD1	99.70	No comment
KCTD3	99.34	No comment
KCTD7	98.45	No comment
KDM1A	97.93	No comment
KDM3B	98.22	No comment
KDM5A	99.06	No comment
KDM5B	98.98	No comment
KDM5C	98.12	No comment
KDM6A	95.37	No comment
KDM6B	97.67	No comment
TMEM94	99.37	No comment
WASHC5	98.20	No comment
RUBCN	99.10	No comment
KIAA0586	93.75	No comment
KIAA1109	98.44	No comment
KIFBP	99.27	No comment
RIC1	99.07	No comment
LNPK	99.07	No comment
NEXMIF	99.59	No comment
KIDINS220	99.40	No comment
KIF11	98.60	No comment
KIF14	98.97	No comment
KIF1A	99.09	No comment
KIF1C	99.18	No comment
KIF21A	98.56	No comment
KIF22	98.71	No comment
KIF26B	99.62	No comment
KIF2A	98.32	No comment
KIF4A	96.82	No comment
KIF5A	97.77	No comment
KIF5C	96.11	No comment
KIF7	96.34	No comment
KIRREL3	98.99	No comment
KIT	99.30	No comment
KLF1	99.27	No comment
KLF7	99.57	No comment
KLF8	96.17	No comment
KLHL15	99.48	No comment
KLHL21	97.63	No comment
KLHL34	97.50	No comment
KLHL4	96.56	No comment
KLHL40	99.52	No comment
KLHL7	99.04	No comment
KMT2A	98.08	No comment
KMT2B	96.01	No comment
KMT2C	99.21	No comment
KMT2D	99.70	No comment
KMT2E	98.57	No comment
KPTN	98.80	No comment
KRAS	97.27	No comment
KRIT1	98.55	No comment
L1CAM	97.47	No comment
L2HGDH	98.33	No comment
LAMA1	99.36	No comment
LAMA2	99.11	No comment
LAMB1	99.38	No comment
LAMB2	99.40	No comment
LAMC3	97.47	No comment
LAMP2	95.99	No comment
LARGE1	99.44	No comment
LARP7	97.05	No comment
LARS2	99.25	No comment
LAS1L	98.38	No comment
LBR	99.13	No comment
LDB3	95.69	No comment
LEMD3	98.30	No comment
P3H1	99.32	No comment
LFNG	80.45	No comment
LGI1	99.81	No comment
LGI4	99.14	No comment
LHFPL3	95.05	No comment
LHX3	99.03	No comment
LHX4	99.11	No comment
LIAS	98.84	No comment
LIG4	99.71	No comment
LIMK1	99.08	No comment
LINGO1	99.68	No comment
LINS1	98.96	No comment
LIPT1	98.07	No comment
LIPT2	97.11	No comment
LITAF	99.34	No comment
LMAN2L	99.15	No comment
LMBRD1	96.71	No comment
LMNA	98.89	No comment
LMX1B	99.74	No comment
LONP1	99.06	No comment
LOXHD1	99.14	No comment
LRAT	99.56	No comment
LRP1	98.97	No comment
LRP2	99.08	No comment
LRP4	98.69	No comment
LRP5	97.97	No comment
LRPPRC	98.65	No comment
LRRC32	99.45	No comment
DNAAF11	99.52	No comment
LRRK1	99.22	No comment
LRRK2	98.24	No comment
LSS	99.87	No comment
LTBP2	98.85	No comment
LTBP3	98.16	No comment
LYRM7	95.36	No comment
LYST	98.97	No comment
LZTFL1	98.88	No comment
LZTR1	99.05	No comment
MAB21L1	99.89	No comment
MAB21L2	99.46	No comment
MACC1	99.56	No comment
MACF1	98.64	No comment
MADD	98.87	No comment
MAF	78.51	No comment
MAFB	99.20	No comment
MAGEA11	99.42	No comment
MAGEB1	99.65	No comment
MAGEB10	99.72	No comment
MAGEB2	99.51	No comment
MAGEC1	98.27	No comment
MAGEC3	96.41	No comment
MAGED1	97.72	No comment
MAGEL2	99.77	No comment
MAGI2	92.15	No comment
MAGIX	91.35	No comment
MAGT1	95.72	No comment
MAN1B1	97.68	No comment
MAN2B1	98.69	No comment
MANBA	98.99	No comment
MAOA	92.59	No comment
MAOB	96.46	No comment
MAP1B	99.62	No comment
MAP2K1	98.93	No comment
MAP2K2	99.30	No comment
MAP3K1	93.46	No comment
MAP3K15	81.00	No comment
MAP3K7	98.96	No comment
MAP7D3	93.50	No comment
MAPK10	99.23	No comment
MAPK8IP3	99.17	No comment
MAPRE2	99.34	No comment
MAPT	99.44	No comment
MASP1	99.32	No comment
MAST1	98.94	No comment
MAT1A	99.31	No comment
MATN3	94.73	No comment
MBD5	99.80	No comment
MBNL3	97.64	No comment
MBOAT7	99.23	No comment
MBTPS2	97.35	No comment
MC2R	99.83	No comment
MCCC1	99.36	No comment
MCCC2	99.42	No comment
MCEE	99.73	No comment
MCM3AP	99.17	No comment
MCM9	99.49	No comment
MCOLN1	98.09	No comment
MCPH1	97.71	No comment
MDH2	99.26	No comment
MECP2	89.64	No comment
MECR	98.83	No comment
MED12	97.94	No comment
MED12L	98.99	No comment
MED13	98.50	No comment
MED13L	99.39	No comment
MED17	98.61	No comment
MED23	98.85	No comment
MED25	97.95	No comment
MEF2C	99.19	No comment
MEGF10	98.25	No comment
MEGF8	99.01	No comment
MEIS2	99.60	No comment
MESP2	98.01	No comment
MET	99.32	No comment
METTL23	99.70	No comment
METTL5	94.29	No comment
MFF	98.90	No comment
MFRP	98.32	No comment
MFSD2A	98.61	No comment
MFSD8	99.49	No comment
MGAT2	99.31	No comment
MGAT5B	98.30	No comment
MGP	99.47	No comment
MIB1	98.13	No comment
MICU1	99.39	No comment
MID1	98.26	No comment
MITF	99.17	No comment
MKKS	99.47	No comment
MKS1	98.74	No comment
MLC1	98.91	No comment
MLH1	98.70	No comment
MLYCD	94.43	No comment
MMAA	98.59	No comment
MMAB	99.44	No comment
MMACHC	99.23	No comment
MMADHC	98.97	No comment
MMP13	98.47	No comment
MMP21	97.96	No comment
MN1	99.12	No comment
MNX1	68.62	No comment
MOCS1	99.12	No comment
MOCS2	99.33	No comment
MOGS	98.80	No comment
MORC4	92.98	No comment
MPDU1	97.72	No comment
MPDZ	99.06	No comment
MPI	99.09	No comment
MPLKIP	99.41	No comment
MPV17	99.32	No comment
MPZ	99.26	No comment
MRAP	99.40	No comment
MRE11	98.82	No comment
MRPS22	99.08	No comment
MRPS34	97.34	No comment
MSL3	95.17	No comment
MSMO1	98.59	No comment
MSX1	98.22	No comment
MSX2	99.75	No comment
MTF1	98.69	No comment
MTFMT	98.17	No comment
MTHFR	97.78	No comment
MTM1	96.15	No comment
MTMR1	88.31	No comment
MTMR14	99.36	No comment
MTMR2	98.85	No comment
MTMR8	95.90	No comment
MTO1	93.67	No comment
MTOR	98.53	No comment
MTPAP	98.83	No comment
MTR	99.25	No comment
MTRR	99.33	No comment
MTTP	99.03	No comment
MMUT	98.64	No comment
MVK	99.52	No comment
MXRA5	98.86	No comment
MYBPC1	98.08	No comment
MYCN	90.97	No comment
MYH10	99.14	No comment
MYH3	99.61	No comment
MYH6	99.58	No comment
MYH8	99.84	No comment
MYH9	99.50	No comment
MYO1D	99.24	No comment
MYO1G	98.28	No comment
MYO5A	98.89	No comment
MYO5B	98.83	No comment
MYO7A	99.30	No comment
MYT1L	99.61	No comment
NAA10	97.29	No comment
NAA15	96.88	No comment
NACC1	99.36	No comment
NADK2	90.73	No comment
NAGA	99.05	No comment
NAGLU	92.35	No comment
NAGS	99.13	No comment
NALCN	99.30	No comment
NANS	99.57	No comment
NBAS	99.15	No comment
NBEA	98.46	No comment
NBN	98.71	No comment
NCAPD2	99.26	No comment
NCAPG2	98.85	No comment
NCAPH	96.78	No comment
NCKAP1	98.92	No comment
NDE1	99.73	No comment
NDN	97.93	No comment
NDP	98.16	No comment
NDRG1	99.86	No comment
NDST1	99.02	No comment
NDUFA1	98.51	No comment
NDUFA10	99.01	No comment
NDUFA11	90.58	No comment
NDUFA12	99.80	No comment
NDUFA9	98.99	No comment
NDUFAF1	99.39	No comment
NDUFAF2	98.80	No comment
NDUFAF3	99.67	No comment
NDUFAF5	99.09	No comment
NDUFS1	98.99	No comment
NDUFS2	97.41	No comment
NDUFS3	99.78	No comment
NDUFS4	97.48	No comment
NDUFS7	99.69	No comment
NDUFS8	98.57	No comment
NDUFV1	99.26	No comment
NEB	99.00	No comment
NECAB2	87.19	No comment
NECAP1	99.07	No comment
NEDD4L	98.42	No comment
NEK1	98.94	No comment
NEU1	99.97	No comment
NF1	98.44	No comment
NFASC	98.10	No comment
NFIA	97.99	No comment
NFIB	98.14	No comment
NFIX	97.92	No comment
NFU1	99.67	No comment
NGF	98.59	No comment
NGLY1	99.36	No comment
NHEJ1	99.58	No comment
NHLRC1	99.86	No comment
NHP2	99.45	No comment
NHS	96.49	No comment
NIPA1	90.55	No comment
NIPBL	98.60	No comment
NKAP	96.73	No comment
NKX2-1	97.75	No comment
NKX2-5	99.63	No comment
NKX3-2	98.37	No comment
NLGN3	98.40	No comment
NLGN4X	99.13	No comment
NLRP3	98.99	No comment
NMNAT1	97.99	No comment
NODAL	99.40	No comment
NOG	99.12	No comment
NONO	96.77	No comment
NOP56	99.35	No comment
NOTCH2	99.27	No comment
NOVA2	89.97	No comment
NPC1	98.89	No comment
NPC2	99.66	No comment
NPHP1	99.51	No comment
NPHP3	98.74	No comment
NPHP4	99.19	No comment
NPHS1	99.44	No comment
NPHS2	97.80	No comment
NPR2	99.34	No comment
NPR3	90.56	No comment
NR1I3	99.14	No comment
NR2F1	90.07	No comment
NR2F2	98.87	No comment
NR4A2	99.44	No comment
NR5A1	97.66	No comment
NRAS	98.92	No comment
NRK	96.60	No comment
NRROS	99.89	No comment
NRXN1	99.17	No comment
NRXN2	95.11	No comment
NRXN3	99.23	No comment
NSD1	98.92	No comment
NSDHL	98.64	No comment
NSF	98.09	No comment
NSUN2	98.86	No comment
NT5C2	98.94	No comment
NT5C3A	98.92	No comment
NTM	98.61	No comment
NTNG1	99.58	No comment
NTNG2	93.49	No comment
NTRK1	98.79	No comment
NTRK2	99.23	No comment
NUBPL	99.17	No comment
NUDT2	99.10	No comment
NUP107	97.33	No comment
NUP188	98.99	No comment
NUP62	99.65	No comment
NUS1	97.85	No comment
NXF5	99.08	No comment
NYX	92.34	No comment
OBSL1	98.23	No comment
OCLN	99.53	No comment
OCRL	95.55	No comment
ODC1	99.36	No comment
ODF2L	97.74	No comment
OFD1	93.09	No comment
OGT	96.02	No comment
OPA3	99.11	No comment
OPHN1	93.40	No comment
OR5M1	99.56	No comment
ORC1	98.75	No comment
ORC4	98.23	No comment
ORC6	98.12	No comment
OSGEP	99.20	No comment
OTC	94.39	No comment
OTOGL	91.23	No comment
OTUD6B	97.21	No comment
OTUD7A	84.64	No comment
OTX2	99.74	No comment
OXCT1	98.14	No comment
P2RY4	99.46	No comment
P2RY8	99.54	No comment
P4HB	99.48	No comment
P4HTM	95.19	No comment
PABPC5	99.77	No comment
PACS1	97.81	No comment
PACS2	97.16	No comment
PAFAH1B1	99.12	No comment
PAH	99.36	No comment
PAK1	89.41	No comment
PAK3	93.85	No comment
PALB2	99.35	No comment
PANK2	98.65	No comment
PAPSS2	97.09	No comment
PRKN	99.61	No comment
PARK7	98.71	No comment
PARN	99.92	No comment
PARP1	99.23	No comment
PASD1	96.99	No comment
PAX2	98.63	No comment
PAX3	99.47	No comment
PAX6	99.12	No comment
PAX7	98.68	No comment
PAX8	99.37	No comment
PAX9	99.60	No comment
PBRM1	99.04	No comment
PBX1	98.79	No comment
PC	99.26	No comment
PCBD1	98.19	No comment
PCCA	99.09	No comment
PCCB	98.35	No comment
PCDH10	99.56	No comment
PCDH12	99.87	No comment
PCDH19	99.27	No comment
PCGF2	89.24	No comment
PCLO	99.20	No comment
PCNT	98.96	No comment
PCYT1A	99.37	No comment
PCYT2	93.96	No comment
PDCD10	97.57	No comment
PDE10A	99.49	No comment
PDE4D	97.01	No comment
PDE6D	99.57	No comment
PDE6G	99.28	No comment
PDGFB	99.27	No comment
PDGFRB	98.98	No comment
PDHA1	93.13	No comment
PDHX	97.66	No comment
PDSS1	88.79	No comment
PDSS2	98.91	No comment
PDYN	97.60	No comment
PECR	98.78	No comment
PEPD	99.16	No comment
PET100	99.52	No comment
PEX1	98.65	No comment
PEX10	94.24	No comment
PEX11B	98.16	No comment
PEX12	98.98	No comment
PEX13	99.29	No comment
PEX14	99.37	No comment
PEX16	99.69	No comment
PEX19	98.79	No comment
PEX2	99.69	No comment
PEX26	98.07	No comment
PEX3	98.18	No comment
PEX5	98.49	No comment
PEX6	98.82	No comment
PEX7	98.38	No comment
PGAP1	97.38	No comment
PGAP2	99.62	No comment
PGAP3	97.87	No comment
PGK1	98.42	No comment
PGM1	98.11	No comment
PGM3	99.56	No comment
PGRMC1	98.26	No comment
PHACTR1	89.43	No comment
PHC1	99.13	No comment
PHF10	95.41	No comment
PHF21A	98.68	No comment
PHF6	87.29	No comment
PHF8	98.16	No comment
PHGDH	99.24	No comment
PHIP	98.39	No comment
PHKA1	96.26	No comment
PHKA2	95.35	No comment
PHKG2	99.76	No comment
PHOX2B	94.35	No comment
PIEZO2	98.61	No comment
PIGA	96.21	No comment
PIGB	99.29	No comment
PIGC	99.49	No comment
PIGG	99.35	No comment
PIGH	99.72	No comment
PIGK	97.34	No comment
PIGL	99.60	No comment
PIGN	97.35	No comment
PIGO	99.30	No comment
PIGP	97.65	No comment
PIGQ	99.47	No comment
PIGS	99.30	No comment
PIGT	99.18	No comment
PIGU	96.64	No comment
PIGV	99.64	No comment
PIGW	99.86	No comment
PIGY	98.77	No comment
PIK3C2A	98.95	No comment
PIK3C3	98.08	No comment
PIK3CA	98.58	No comment
PIK3R1	98.70	No comment
PIK3R2	92.16	No comment
PIN4	94.34	No comment
PINK1	96.58	No comment
PITRM1	99.18	No comment
PITX2	98.79	No comment
PITX3	99.21	No comment
PJA1	99.79	No comment
PKD1L1	99.32	No comment
PKHD1	99.32	No comment
PLA2G6	99.38	No comment
PLAA	99.25	No comment
PLCB1	98.83	No comment
PLCE1	98.80	No comment
PLCXD1	96.54	No comment
PLEC	99.59	No comment
PLEKHG2	99.01	No comment
PLK4	98.64	No comment
PLOD1	98.15	No comment
PLOD2	98.29	No comment
PLOD3	98.92	No comment
PLP1	98.91	No comment
PLXNB3	98.08	No comment
PMM2	97.92	No comment
PMP22	99.70	No comment
PMPCA	99.22	No comment
PMPCB	98.76	No comment
PMS2	98.73	No comment
PNKD	99.01	No comment
PNKP	99.38	No comment
PNP	99.48	No comment
PNPLA6	99.18	No comment
PNPO	98.09	No comment
PNPT1	98.94	No comment
POC1A	98.69	No comment
POC1B	98.91	No comment
POGLUT1	99.01	No comment
POGZ	99.08	No comment
POLA1	93.70	No comment
POLD1	99.32	No comment
POLG	98.98	No comment
POLR1C	99.42	No comment
POLR1D	94.97	No comment
POLR2A	93.09	No comment
POLR3A	99.17	No comment
POLR3B	98.52	No comment
POMGNT1	98.91	No comment
POMGNT2	99.93	No comment
POMT1	99.40	No comment
POMT2	98.43	No comment
PORCN	98.49	No comment
POU1F1	99.20	No comment
POU3F3	72.47	No comment
PPA2	98.38	No comment
PPM1D	98.90	No comment
PPOX	99.10	No comment
PPP1CB	99.15	No comment
PPP1R15B	99.76	No comment
PPP1R1B	97.58	No comment
PPP1R21	97.12	No comment
PPP2CA	99.22	No comment
PPP2R1A	99.53	No comment
PPP2R2B	99.49	No comment
PPP2R5D	99.23	No comment
PPP3CA	97.94	No comment
PPT1	99.42	No comment
PQBP1	98.03	No comment
PRDM12	87.59	No comment
PRDX4	76.26	No comment
PREPL	99.18	No comment
PRICKLE1	99.56	No comment
PRICKLE2	99.38	No comment
PRICKLE3	96.71	No comment
PRKAR1A	99.58	No comment
PRKCG	99.43	No comment
PRKD1	98.77	No comment
PRKRA	99.26	No comment
PRMT9	98.98	No comment
PRMT7	98.06	No comment
PRODH	98.11	No comment
PROP1	99.63	No comment
PLPBP	95.56	No comment
PROX2	99.44	No comment
PRPS1	95.38	No comment
PRR12	98.27	No comment
PRRG1	94.01	No comment
PRRG3	97.85	No comment
PRRT2	99.50	No comment
PRSS12	99.22	No comment
PRSS56	98.31	No comment
PRUNE1	99.16	No comment
PRX	99.79	No comment
PSAP	99.57	No comment
PSAT1	99.42	No comment
PSEN1	99.47	No comment
PSMA7	92.67	No comment
PSMB8	99.96	No comment
PSMD10	98.66	No comment
PSMD12	99.46	No comment
PSPH	99.39	No comment
PTCH1	98.24	No comment
PTCHD1	99.55	No comment
PTDSS1	99.53	No comment
PTEN	97.06	No comment
PTF1A	84.73	No comment
PTH1R	99.36	No comment
PTHLH	99.63	No comment
PTPN11	98.87	No comment
PTPN21	99.21	No comment
PTPN23	99.40	No comment
PTRH2	99.69	No comment
PTRHD1	99.61	No comment
PTS	97.89	No comment
PUF60	99.63	No comment
PUM1	98.63	No comment
PURA	95.31	No comment
PUS1	93.61	No comment
PUS3	99.35	No comment
PUS7	99.26	No comment
NECTIN1	99.41	No comment
PYCR1	99.44	No comment
PYCR2	98.91	No comment
PYGL	99.15	No comment
QARS1	99.24	No comment
QDPR	99.29	No comment
QKI	99.00	No comment
QRICH1	99.47	No comment
RAB11A	99.26	No comment
RAB11B	99.79	No comment
RAB18	98.52	No comment
RAB23	98.94	No comment
RAB27A	96.61	No comment
RAB39B	99.40	No comment
RAB3GAP1	98.90	No comment
RAB3GAP2	99.12	No comment
RAB40AL	99.76	No comment
RABL6	99.51	No comment
RAC1	98.23	No comment
NCOA3	95.06	No comment
RAD21	98.41	No comment
RAD50	97.32	No comment
RAD51	86.56	No comment
RAD51C	98.85	No comment
RAF1	99.16	No comment
RAI1	99.61	No comment
RALA	96.03	No comment
RALGAPA1	98.41	No comment
RALGDS	95.93	No comment
RANBP17	98.36	No comment
RANBP2	99.68	No comment
RAPGEF1	99.41	No comment
RAPSN	99.04	No comment
RARB	99.38	No comment
RARS1	97.45	No comment
RARS2	99.01	No comment
RASA1	97.27	No comment
RAX	93.04	No comment
RBBP8	97.45	No comment
RBFOX1	97.68	No comment
RBL2	98.08	No comment
RBM10	97.07	No comment
RBM28	99.52	No comment
RBM8A	99.76	No comment
RBPJ	99.63	No comment
RECQL4	98.44	No comment
REEP1	98.11	No comment
REEP2	98.01	No comment
RELN	99.14	No comment
RENBP	93.79	No comment
RERE	97.47	No comment
RET	98.30	No comment
RFT1	97.40	No comment
RFX6	98.63	No comment
RTL9	99.02	No comment
RGN	96.72	No comment
RGS7	99.42	No comment
RHEB	99.03	No comment
RHOBTB2	98.98	No comment
RIMS1	98.15	No comment
RIPK4	99.54	No comment
RIT1	99.28	No comment
RLIM	99.09	No comment
RMND1	99.20	No comment
RNASEH2A	99.80	No comment
RNASEH2B	94.50	No comment
RNASEH2C	99.62	No comment
RNASET2	99.20	No comment
RNF113A	99.44	No comment
RNF125	98.59	No comment
RNF13	97.23	No comment
RNF135	98.54	No comment
RNF168	99.46	No comment
RNF216	99.40	No comment
ROBO3	98.40	No comment
ROGDI	96.44	No comment
ROR2	97.79	No comment
RORA	99.37	No comment
RORB	99.16	No comment
RPE65	99.50	No comment
RPGR	91.56	No comment
RPGRIP1	98.66	No comment
RPGRIP1L	95.87	No comment
RPIA	97.45	No comment
RPL10	97.70	No comment
RPS19	98.91	No comment
RPS23	99.81	No comment
RPS6KA3	91.96	No comment
RRAS	94.70	No comment
RRM2B	98.76	No comment
RSPH1	99.58	No comment
RSPH3	99.23	No comment
RSPO4	99.59	No comment
RSPRY1	98.70	No comment
RSRC1	94.18	No comment
RTEL1	99.53	No comment
RTN2	99.37	No comment
RTN4IP1	98.71	No comment
RTTN	98.24	No comment
RUNX2	99.01	No comment
RUSC2	99.39	No comment
RYR1	97.61	No comment
RYR3	99.20	No comment
SACS	99.78	No comment
SALL1	99.82	No comment
SALL4	99.82	No comment
SAMD9	99.90	No comment
SAMHD1	99.51	No comment
SARS2	99.19	No comment
SATB1	99.00	No comment
SATB2	99.38	No comment
SBDS	99.45	No comment
SBF1	99.15	No comment
SBF2	98.85	No comment
SC5D	98.71	No comment
SCAF4	98.85	No comment
SCAMP5	99.20	No comment
SCAPER	98.60	No comment
SCARB2	99.18	No comment
SCARF2	93.83	No comment
SCN11A	98.88	No comment
SCN1A	98.90	No comment
SCN1B	95.08	No comment
SCN2A	99.00	No comment
SCN3A	99.17	No comment
SCN4A	98.53	No comment
SCN8A	96.15	No comment
SCN9A	98.95	No comment
SCO1	99.42	No comment
SCO2	95.41	No comment
SCRIB	99.36	No comment
SCYL1	98.07	No comment
SDCCAG8	99.21	No comment
SDHA	98.78	No comment
SDHAF1	95.67	No comment
SEC23B	98.95	No comment
SEC31A	98.89	No comment
SEPSECS	98.34	No comment
SERAC1	98.92	No comment
SET	99.64	No comment
SETBP1	96.95	No comment
SETD1A	98.37	No comment
SETD1B	95.43	No comment
SETD2	99.04	No comment
SETD5	99.01	No comment
SETDB2	98.15	No comment
SETX	99.48	No comment
SF3B4	98.95	No comment
SGCA	99.28	No comment
SGCE	93.44	No comment
SGPL1	98.02	No comment
SGSH	99.56	No comment
SH3PXD2B	98.34	No comment
SH3TC2	99.47	No comment
SHANK1	95.42	No comment
SHANK2	95.90	No comment
SHANK3	84.05	No comment
SHH	97.41	No comment
SHOC2	98.50	No comment
SHOX	99.66	No comment
SHROOM2	96.54	No comment
SHROOM4	98.99	No comment
SIGMAR1	99.83	No comment
SIK1	99.55	No comment
SIL1	99.44	No comment
SIN3A	99.40	No comment
SIX1	99.50	No comment
SIX3	98.04	No comment
SIX5	96.91	No comment
SKI	94.70	No comment
SKIC2	99.87	No comment
SLC12A5	98.41	No comment
SLC12A6	98.39	No comment
SLC13A5	98.63	No comment
SLC16A2	99.13	No comment
SLC17A5	98.11	No comment
SLC19A3	98.65	No comment
SLC1A1	99.06	No comment
SLC1A2	98.81	No comment
SLC1A4	99.04	No comment
SLC20A2	98.04	No comment
SLC22A5	99.51	No comment
SLC25A1	93.07	No comment
SLC25A12	98.89	No comment
SLC25A13	99.00	No comment
SLC25A15	99.02	No comment
SLC25A19	98.60	No comment
SLC25A20	96.95	No comment
SLC25A22	98.89	No comment
SLC25A24	99.54	No comment
SLC25A26	99.04	No comment
SLC25A38	99.44	No comment
SLC25A53	99.18	No comment
SLC25A6	93.97	No comment
SLC26A2	99.60	No comment
SLC26A9	98.51	No comment
SLC27A4	99.39	No comment
SLC2A1	99.21	No comment
SLC2A10	99.62	No comment
SLC2A2	98.55	No comment
SLC30A9	98.53	No comment
SLC31A1	98.80	No comment
SLC33A1	98.15	No comment
SLC35A1	98.63	No comment
SLC35A2	98.33	No comment
SLC35A3	98.16	No comment
SLC35C1	99.23	No comment
SLC35D1	97.31	No comment
SLC39A13	99.08	No comment
SLC39A14	99.48	No comment
SLC39A8	99.08	No comment
SLC45A1	99.36	No comment
SLC46A1	99.30	No comment
SLC4A1	95.32	No comment
SLC4A11	99.30	No comment
SLC4A4	98.81	No comment
SLC52A3	99.86	No comment
SLC5A2	99.60	No comment
SLC5A5	98.75	No comment
SLC5A6	99.13	No comment
SLC5A7	99.53	No comment
SLC6A1	98.74	No comment
SLC6A17	98.68	No comment
SLC6A19	99.55	No comment
SLC6A3	99.88	No comment
SLC6A4	99.05	No comment
SLC6A5	99.35	No comment
SLC6A8	91.92	No comment
SLC6A9	99.08	No comment
SLC7A7	99.58	No comment
SLC9A6	89.27	No comment
SLC9A9	98.10	No comment
SLX4	99.16	No comment
SMAD3	98.93	No comment
SMAD4	99.09	No comment
SMARCA1	93.45	No comment
SMARCA2	96.71	No comment
SMARCA4	98.96	No comment
SMARCAL1	99.40	No comment
SMARCB1	99.67	No comment
SMARCC1	98.91	No comment
SMARCC2	98.49	No comment
SMARCD1	98.02	No comment
SMARCD2	89.27	No comment
SMARCD3	95.19	No comment
SMARCE1	99.13	No comment
SMC1A	97.63	No comment
SMC3	98.43	No comment
SMCHD1	96.94	No comment
SMG9	99.03	No comment
SMO	97.34	No comment
SMOC1	99.47	No comment
SMPD1	99.59	No comment
SMPD4	99.16	No comment
SMS	93.00	No comment
SNAP25	99.07	No comment
SNAP29	97.81	No comment
SNCA	99.88	No comment
SNIP1	99.49	No comment
SNRPB	99.04	No comment
SNTG1	99.41	No comment
SNX14	98.24	No comment
SNX27	97.42	No comment
SNX3	97.57	No comment
SOBP	91.72	No comment
SON	99.58	No comment
SOS1	98.49	No comment
SOS2	98.44	No comment
SOX10	99.18	No comment
SOX11	98.67	No comment
SOX17	99.36	No comment
SOX2	99.09	No comment
SOX3	92.70	No comment
SOX4	92.73	No comment
SOX5	99.41	No comment
SOX6	98.79	No comment
SOX9	98.76	No comment
SPAG1	92.96	No comment
SPAST	98.37	No comment
AFG2A	98.79	No comment
SPECC1L	99.39	No comment
SPEG	98.56	No comment
SPG11	98.94	No comment
SPART	99.65	No comment
SPG21	99.56	No comment
SPG7	97.12	No comment
SPR	96.31	No comment
SPRED1	99.02	No comment
SPRTN	98.90	No comment
SPRY3	99.98	No comment
SPTAN1	98.92	No comment
SPTBN2	99.21	No comment
SPTLC1	99.27	No comment
SPTLC2	97.79	No comment
SRCAP	99.48	No comment
SRD5A3	99.57	No comment
SREBF2	98.39	No comment
SRGAP3	99.31	No comment
SRP54	98.17	No comment
SRPX2	97.52	No comment
SRY	49.45	No comment
SSR4	96.62	No comment
ST3GAL3	99.33	No comment
ST3GAL5	95.14	No comment
STAB2	99.01	No comment
STAG1	98.53	No comment
STAG2	88.40	No comment
STAMBP	99.15	No comment
STAR	98.82	No comment
STARD8	98.62	No comment
STAT1	99.43	No comment
STAT5B	99.51	No comment
STIL	99.10	No comment
STRA6	98.39	No comment
STRADA	98.02	No comment
STS	94.96	No comment
STT3A	99.15	No comment
STT3B	97.48	No comment
STUB1	98.49	No comment
STX11	99.96	No comment
STX1B	99.29	No comment
STX3	99.34	No comment
STXBP1	99.41	No comment
SUCLG1	97.18	No comment
SUFU	97.89	No comment
SUMF1	99.40	No comment
SUOX	99.68	No comment
SURF1	97.97	No comment
KMT5B	99.52	No comment
SYN1	90.54	No comment
SYNCRIP	99.53	No comment
SYNE1	99.37	No comment
SYNGAP1	97.57	No comment
SYNJ1	98.62	No comment
SYP	98.38	No comment
SYT1	98.69	No comment
SYT14	92.68	No comment
SYTL4	95.73	No comment
SYTL5	95.65	No comment
SZT2	99.40	No comment
TAB2	99.63	No comment
TACO1	99.03	No comment
TAF1	96.88	No comment
TAF13	99.08	No comment
TAF2	98.77	No comment
TAF6	98.77	No comment
TAF7L	96.34	No comment
TANC2	99.08	No comment
TANGO2	99.49	No comment
TAOK1	98.85	No comment
TARDBP	98.93	No comment
TAT	99.63	No comment
TAFAZZIN	98.45	No comment
TBC1D20	96.79	No comment
TBC1D23	96.93	No comment
TBC1D24	99.04	No comment
TBC1D7	99.38	No comment
TBC1D8B	94.09	No comment
TBCD	99.00	No comment
TBCE	97.65	No comment
TBCK	98.11	No comment
TBL1XR1	99.36	No comment
TBP	94.39	No comment
TBR1	97.83	No comment
TBX1	80.23	No comment
TBX15	99.32	No comment
TBX20	98.62	No comment
TBX22	98.45	No comment
TBX3	99.44	No comment
TBX4	96.92	No comment
TBX5	99.04	No comment
TBXAS1	99.15	No comment
TCEAL3	98.98	No comment
TCF12	99.27	No comment
TCF20	99.92	No comment
TCF4	98.18	No comment
TCN2	99.16	No comment
TCOF1	98.98	No comment
TCP10L2	96.65	No comment
TCTN1	99.23	No comment
TCTN2	98.51	No comment
TCTN3	99.33	No comment
TDP2	98.45	No comment
TECPR2	97.98	No comment
TECR	99.15	No comment
TEK	98.69	No comment
TELO2	98.42	No comment
TENM1	97.40	No comment
TERT	97.99	No comment
TFAP2A	99.10	No comment
TFAP2B	99.67	No comment
TFB2M	97.77	No comment
TFE3	97.18	No comment
TFG	97.71	No comment
TGDS	98.69	No comment
TGFB1	98.69	No comment
TGFB2	99.24	No comment
TGFB3	98.80	No comment
TGFBR1	94.44	No comment
TGFBR2	99.42	No comment
TGIF1	99.54	No comment
TGM6	99.52	No comment
TH	98.92	No comment
THAP1	99.83	No comment
THOC2	95.28	No comment
THOC6	99.31	No comment
THRA	98.88	No comment
THRB	99.50	No comment
THUMPD1	97.86	No comment
TIMM50	99.61	No comment
TIMM8A	98.50	No comment
TINF2	99.50	No comment
TK2	96.78	No comment
TKT	97.27	No comment
TKTL1	96.74	No comment
TLK2	98.47	No comment
TLR8	97.46	No comment
TM4SF20	99.00	No comment
TMCO1	94.77	No comment
TMEM126B	97.26	No comment
TMEM132E	98.50	No comment
TMEM135	98.43	No comment
TMEM165	94.88	No comment
TMEM216	99.71	No comment
TMEM231	99.23	No comment
TMEM237	97.63	No comment
TMEM240	99.05	No comment
TMEM260	98.99	No comment
RXYLT1	98.12	No comment
TMEM67	96.82	No comment
TMEM70	99.03	No comment
TMLHE	95.63	No comment
TMPRSS6	99.18	No comment
TMTC3	98.30	No comment
TMX2	99.71	No comment
TNIK	98.61	No comment
TNKS2	98.85	No comment
TNPO2	99.19	No comment
TNRC6B	99.23	No comment
TOE1	99.29	No comment
TOMM70	98.81	No comment
TOR1A	99.40	No comment
TP63	99.19	No comment
TPH2	99.50	No comment
TPK1	98.78	No comment
TPP1	99.55	No comment
TRAF7	99.15	No comment
TRAIP	99.21	No comment
TRAK1	99.03	No comment
TRAPPC11	99.04	No comment
TRAPPC12	99.42	No comment
TRAPPC2	95.98	No comment
TRAPPC4	99.44	No comment
TRAPPC6A	98.87	No comment
TRAPPC6B	98.72	No comment
TRAPPC9	99.07	No comment
TREX1	99.86	No comment
TREX2	96.69	No comment
TRHR	99.49	No comment
TRIM32	99.91	No comment
TRIM37	99.00	No comment
TRIM8	98.75	No comment
TRIO	96.38	No comment
TRIP11	99.09	No comment
TRIP12	98.93	No comment
TRIP13	96.31	No comment
TRIT1	99.11	No comment
TRMT1	98.51	No comment
TRMT10A	99.25	No comment
TRPM1	99.80	No comment
TRPM3	99.30	No comment
TRPS1	99.67	No comment
TRPV4	98.68	No comment
TRRAP	98.54	No comment
TSC1	99.22	No comment
TSC2	98.76	No comment
TSC22D3	98.85	No comment
TSEN15	99.17	No comment
TSEN2	99.38	No comment
TSEN34	99.39	No comment
TSEN54	96.81	No comment
TSFM	91.27	No comment
TSHB	99.78	No comment
TSHR	99.48	No comment
TSPAN7	97.97	No comment
TSPAN8	98.82	No comment
TTBK2	98.86	No comment
TTC19	96.22	No comment
SKIC3	99.15	No comment
TTC5	99.03	No comment
TTC7A	98.98	No comment
TTC8	98.53	No comment
TTI2	99.31	No comment
TTN	99.43	No comment
TTPA	96.73	No comment
TTR	98.18	No comment
TUBA1A	99.98	No comment
TUBA8	99.57	No comment
TUBAL3	99.75	No comment
TUBB	99.92	No comment
TUBB2A	99.92	No comment
TUBB2B	99.64	No comment
TUBB3	99.69	No comment
TUBB4A	99.78	No comment
TUBG1	99.68	No comment
TUBGCP4	98.92	No comment
TUBGCP6	99.55	No comment
TUFM	99.36	No comment
TUSC3	99.50	No comment
TWIST1	87.92	No comment
TWIST2	99.24	No comment
TXNL4A	99.72	No comment
TYR	99.29	No comment
TYRP1	99.39	No comment
UBA5	98.17	No comment
UBE2A	88.22	No comment
UBE3A	99.06	No comment
UBE3B	98.65	No comment
UBR1	99.11	No comment
UBR4	98.90	No comment
UBR7	97.01	No comment
UBTF	99.61	No comment
UFC1	99.37	No comment
UFM1	99.16	No comment
UGP2	98.46	No comment
UGT1A1	99.45	No comment
UMPS	98.48	No comment
UNC13A	99.25	No comment
UNC80	98.86	No comment
UPB1	99.39	No comment
UPF3B	94.60	No comment
UQCRB	99.87	No comment
UQCRQ	99.36	No comment
UROC1	99.06	No comment
UROS	99.56	No comment
USB1	99.41	No comment
USP18	99.79	No comment
USP27X	99.46	No comment
USP7	99.02	No comment
USP9X	95.44	No comment
UTP14A	97.77	No comment
UVSSA	99.24	No comment
VAMP1	96.99	No comment
VAMP2	99.53	No comment
VAMP7	96.50	No comment
VARS1	99.74	No comment
VDR	97.94	No comment
CPAMD8	98.98	No comment
VIPAS39	98.17	No comment
VLDLR	99.08	No comment
VPS11	99.39	No comment
VPS13B	98.28	No comment
VPS33B	99.23	No comment
VPS35	99.22	No comment
VPS51	99.19	No comment
VPS53	97.29	No comment
VRK1	98.70	No comment
VSX2	98.36	No comment
WAC	98.16	No comment
WARS2	99.20	No comment
WASF1	98.47	No comment
WDFY3	99.10	No comment
WDPCP	98.96	No comment
WDR11	99.19	No comment
WDR13	96.77	No comment
WDR19	98.40	No comment
WDR26	98.93	No comment
DYNC2I2	98.79	No comment
WDR35	99.09	No comment
WDR37	99.18	No comment
WDR4	98.27	No comment
WDR45	97.90	No comment
WDR45B	99.15	No comment
DYNC2I1	98.85	No comment
WDR62	99.01	No comment
WDR73	99.05	No comment
WDR81	99.65	No comment
WFS1	99.63	No comment
NSD2	99.05	No comment
WIPI2	98.93	No comment
WNK3	97.70	No comment
WNT1	98.69	No comment
WNT10B	98.91	No comment
WNT3	99.00	No comment
WNT4	93.68	No comment
WNT5A	98.73	No comment
WNT7A	99.49	No comment
WRAP53	98.86	No comment
WRN	98.36	No comment
WT1	98.77	No comment
WWC3	96.63	No comment
WWOX	99.58	No comment
XIAP	97.48	No comment
XK	96.00	No comment
XKRX	98.90	No comment
XPA	99.29	No comment
XPC	98.92	No comment
XPNPEP3	99.18	No comment
XRCC4	98.59	No comment
XYLT1	90.22	No comment
YAP1	98.22	No comment
YARS1	99.78	No comment
YWHAG	99.64	No comment
YY1	98.44	No comment
ZBTB11	99.16	No comment
ZBTB16	99.58	No comment
ZBTB18	98.72	No comment
ZBTB20	99.54	No comment
ZBTB24	99.82	No comment
ZBTB40	99.17	No comment
ZC3H14	98.92	No comment
ZC4H2	96.37	No comment
ZCCHC12	98.81	No comment
ZCCHC8	92.04	No comment
ZDHHC15	90.89	No comment
ZDHHC9	97.43	No comment
ZEB2	98.91	No comment
ZFHX4	99.34	No comment
ZFP57	99.93	No comment
ZFX	98.98	No comment
ZFYVE26	99.08	No comment
ZIC1	99.80	No comment
ZIC2	89.81	No comment
ZIC3	99.00	No comment
ZMIZ1	99.16	No comment
ZMPSTE24	98.12	No comment
ZMYM3	97.06	No comment
ZMYM6	98.59	No comment
ZMYND11	99.29	No comment
ZMYND12	98.18	No comment
ZNF142	99.52	No comment
ZNF148	99.29	No comment
ZNF292	99.59	No comment
ZNF335	98.86	No comment
ZNF41	99.12	No comment
ZNF425	99.39	No comment
ZNF462	99.73	No comment
ZNF526	99.70	No comment
ZNF592	99.65	No comment
ZNF599	99.82	No comment
ZNF674	98.90	No comment
ZNF711	97.16	No comment
ZNF713	99.38	No comment
ZNF81	99.07	No comment
ZSWIM6	88.76	No comment

Intellectual disability/Epilepsy (1091 genes) - ULG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
A2ML1	99.35	Vissers et al., EJHG 2015 : Noonan syndrome
ABCC9	99.41	Hypertrichotic osteochondrodysplasia
ABCD1	99.49	Adrenoleukodystrophy
ABHD5	98.48	Chanarin-Dorfman syndrome
ACAD9	99.57	Mitochondrial complex I deficiency due to ACAD9 deficiency
ACO2	99.66	Infantile cerebellar-retinal degeneration
ACOX1	99.49	Peroxisomal acyl-CoA oxidase deficiency
ACSL4	91.09	Mental retardation, X-linked 63
ACTB	99.34	Baraitser-Winter syndrome 1
ACTG1	99.69	Baraitser-Winter syndrome 2
ACY1	99.67	Aminoacylase 1 deficiency
ADAR	99.45	Aicardi-Goutieres syndrome 6
ADAT3	81.40	Mental retardation, autosomal recessive 36
ADGRG1	99.67	Polymicrogyria, bilateral frontoparietal
ADK	98.74	Hypermethioninemia due to adenosine kinase deficiency
ADNP	99.55	Helsmoortel-van der Aa syndrome
ADSL	99.58	Adenylosuccinase deficiency
AFF2	90.80	Mental retardation, X-linked, FRAXE type
AGA	99.60	Aspartylglucosaminuria
AGPAT2	91.26	Lipodystrophy, congenital generalized, type 1
AHCY	99.67	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
AHDC1	99.68	Xia-Gibbs syndrome
AHI1	99.05	Joubert syndrome 3
AIMP1	96.88	Leukodystrophy, hypomyelinating, 3
AKT3	98.82	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
ALDH18A1	99.66	Cutis laxa, autosomal recessive, type IIIA
ALDH3A2	99.31	Sjogren-Larsson syndrome
ALDH4A1	96.44	Hyperprolinemia, type II
ALDH5A1	93.04	Succinic semialdehyde dehydrogenase deficiency
ALDH7A1	99.00	Epilepsy, pyridoxine-dependent
ALG1	99.43	Congenital disorder of glycosylation, type Ik
ALG11	99.57	Congenital disorder of glycosylation, type Ip
ALG12	99.69	Congenital disorder of glycosylation, type Ig
ALG13	92.88	Epileptic encephalopathy, early infantile, 36
ALG2	97.14	Myasthenic syndrome, congenital, 14, with tubular aggregates
ALG3	99.59	Congenital disorder of glycosylation, type Id
ALG6	98.36	Congenital disorder of glycosylation, type Ic
ALG9	96.33	Gillessen-Kaesbach-Nishimura syndrome
ALMS1	98.27	Alstrom syndrome
ALX1	99.52	Frontonasal dysplasia 3
ALX4	99.07	Frontonasal dysplasia 2
AMER1	99.96	Osteopathia striata with cranial sclerosis
AMPD2	99.69	Pontocerebellar hypoplasia, type 9
AMT	99.69	Glycine encephalopathy
ANK3	99.47	Mental retardation, autosomal recessive, 37
ANKH	99.64	Craniometaphyseal dysplasia
ANKRD11	99.68	KBG syndrome
AP1S1	99.50	MEDNIK syndrome
AP1S2	88.78	Mental retardation, X-linked syndromic 5
AP4B1	99.61	Spastic paraplegia 47, autosomal recessive
AP4M1	99.68	Spastic paraplegia 50, autosomal recessive
AP4S1	99.48	Spastic paraplegia 52, autosomal recessive
APTX	99.02	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ARCN1	99.27	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
ARFGEF2	99.31	Periventricular heterotopia with microcephaly
ARG1	99.53	Argininemia
ARHGAP31	99.60	Adams-Oliver syndrome 1
ARHGEF2	99.64	Neurodevelopmental disorder with midbrain and hindbrain malformations
ARHGEF9	97.26	Epileptic encephalopathy, early infantile, 8
ARID1A	97.02	Coffin-Siris syndrome 2
ARID1B	97.57	Coffin-Siris syndrome 1
ARID2	99.33	Coffis-Siris syndrome 6
ARL13B	98.36	Joubert syndrome 8
ARL6	99.09	Bardet-Biedl syndrome 3
ARSL	90.38	Chondrodysplasia punctata, X-linked recessive
ARX	65.25	Mental retardation, X-linked 29 and others
ASH1L	99.53	Okamoto et al., AJMG 2017 : MCA/ID syndrome
ASNS	99.42	Asparagine synthetase deficiency
ASPA	99.17	Canavan disease
ASPM	98.50	Microcephaly 5, primary, autosomal recessive
ASXL1	95.03	Bohring-Opitz syndrome
ASXL3	98.20	Bainbridge-Ropers syndrome
ATIC	96.73	AICA-ribosiduria due to ATIC deficiency
ATP6V0A2	99.12	Cutis laxa, autosomal recessive, type IIA
ATP7A	94.32	Menkes disease
ATR	99.17	Seckel syndrome 1
ATRIP	95.19	Ogi et al., PLoS Genet 2012 : Seckel syndrome
ATRX	92.10	Mental retardation-hypotonic facies syndrome, X-linked
AUH	96.75	3-methylglutaconic aciduria, type I
AUTS2	97.55	Mental retardation, autosomal dominant 26
B3GLCT	92.21	Peters-plus syndrome
B4GALT1	98.41	Congenital disorder of glycosylation, type IId
B4GALT7	83.36	Ehlers-Danlos syndrome with short stature and limb anomalies
BBIP1	99.64	Bardet-Biedl syndrome 18
BBS1	99.66	Bardet-Biedl syndrome 1
BBS10	99.57	Bardet-Biedl syndrome 10
BBS12	99.52	Bardet-Biedl syndrome 12
BBS2	99.32	Bardet-Biedl syndrome 2
BBS4	99.49	Bardet-Biedl syndrome 4
BBS5	98.49	Bardet-Biedl syndrome 5
BBS7	99.00	Bardet-Biedl syndrome 7
BBS9	98.68	Bardet-Biedl syndrome 9
BCKDHB	98.82	Maple syrup urine disease, type Ib
BCL11A	99.16	Dias-Logan syndrome
BCOR	96.85	Microphthalmia, syndromic 2
BCS1L	99.69	Leigh syndrome
BLM	99.07	Bloom syndrome
BRAF	94.78	Noonan syndrome 7
BRPF1	99.67	Intellectual developmental disorder with dysmorphic facies and ptosis
BRWD3	93.74	Mental retardation, X-linked 93
BSCL2	99.67	Encephalopathy, progressive, with or without lipodystrophy
BTD	99.68	Biotinidase deficiency
BUB1B	99.40	Mosaic variegated aneuploidy syndrome 1
C12ORF57	99.69	Platzer et al., AJMG 2014 : RM, hypoplasie corps caleux, colobome, Ã©pilepsie.
C19ORF12	99.69	Neurodegeneration with brain iron accumulation 4
C2CD3	99.44	Orofaciodigital syndrome XIV
CPLANE1	98.89	Joubert syndrome 17
CA8	99.19	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
CACNA1A	99.12	Epileptic encephalopathy, early infantile, 42
CACNA1C	99.65	Timothy syndrome
CACNA1D	99.50	Primary aldosteronism, seizures, and neurologic abnormalities
CAMK2A	99.67	Mental retardation, autosomal dominant 53
CAMK2B	96.34	Mental retardation, autosomal dominant 54
CANT1	99.60	Desbuquois dysplasia 1
CASK	95.36	Mental retardation and microcephaly with pontine and cerebellar hypoplasia
CAV1	99.67	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
CAVIN1	99.31	Lipodystrophy, congenital generalized, type 4
CBL	99.54	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
CBS	99.69	Homocystinuria, B6-responsive and nonresponsive types
CC2D1A	99.64	Mental retardation, autosomal recessive 3
CC2D2A	99.11	Joubert syndrome 9
CCDC22	99.91	Ritscher-Schinzel syndrome 2
CCDC39	98.07	Ciliary dyskinesia, primary, 14
CCDC78	99.69	Myopathy, centronuclear, 4
CCDC88C	99.38	Hydrocephalus, nonsyndromic, autosomal recessive
CD96	99.13	C syndrome
CDC45	99.57	Meier-Gorlin syndrome 7
CDC6	99.32	Meier-Gorlin syndrome 5
CDH15	96.19	Mental retardation, autosomal dominant 3
CDK13	95.39	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
CDK5RAP2	99.45	Microcephaly 3, primary, autosomal recessive
CDKL5	87.62	Epileptic encephalopathy, early infantile, 2
CDON	98.90	Holoprosencephaly 11
CDT1	89.72	Meier-Gorlin syndrome 4
CENPJ	99.19	Microcephaly 6, primary, autosomal recessive
CEP135	97.81	Microcephaly 8, primary, autosomal recessive
CEP152	98.40	Microcephaly 9, primary, autosomal recessive
CEP290	97.64	Joubert syndrome 5
CEP41	99.07	Joubert syndrome 15
CEP57	99.09	Mosaic variegated aneuploidy syndrome 2
CEP63	99.06	Seckel syndrome 6
CHAMP1	99.63	Mental retardation, autosomal dominant 40
CHAT	97.70	Myasthenic syndrome, congenital, 6, presynaptic
CHD2	99.18	Epileptic encephalopathy, childhood-onset
CHD4	99.65	Sifrim-Hitz-Weiss syndrome
CHD7	99.53	CHARGE syndrome
CHD8	99.58	Autism, susceptibility to, 18
CHKB	97.97	Muscular dystrophy, congenital, megaconial type
CHMP1A	99.59	Pontocerebellar hypoplasia, type 8
CHRNA4	90.96	Epilepsy, nocturnal frontal lobe, 1
CHRND	99.68	Myasthenic syndrome, congenital, 3B, fast-channel
CISD2	98.61	Wolfram syndrome 2
CLCN4	99.27	Mental retardation, X-linked 49/15
CLN3	99.69	Ceroid lipofuscinosis, neuronal, 3
CLN5	97.69	Ceroid lipofuscinosis, neuronal, 5
CLN6	85.06	Ceroid lipofuscinosis, neuronal, 6
CLN8	99.69	Ceroid lipofuscinosis, neuronal, 8
CLP1	99.68	Pontocerebellar hypoplasia, type 10
CLPB	99.62	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
CNKSR2	91.50	Houge et al., Mol Syndromol 2012 : ID
CNTNAP2	99.39	Pitt-Hopkins like syndrome 1
COASY	99.68	Neurodegeneration with brain iron accumulation 6
COG1	98.34	Congenital disorder of glycosylation, type IIg
COG5	99.11	Congenital disorder of glycosylation, type IIi
COG6	98.39	Congenital disorder of glycosylation, type IIl
COG7	99.66	Congenital disorder of glycosylation, type IIe
COG8	97.38	Congenital disorder of glycosylation, type IIh
COL4A1	97.86	Porencephaly 1
COL4A2	99.62	Porencephaly 2
CERT1	99.15	Mental retardation, autosomal dominant 34
COLEC10	99.16	Mental retardation, autosomal dominant 34
COLEC11	99.67	3MC syndrome 2
COQ2	94.52	Coenzyme Q10 deficiency, primary, 1
COQ4	98.74	Coenzyme Q10 deficiency, primary, 7
COQ6	99.60	Coenzyme Q10 deficiency, primary, 6
COQ7	99.40	Coenzyme Q10 deficiency, primary, 8
COQ8A	99.69	Coenzyme Q10 deficiency, primary, 4
COQ9	98.23	Coenzyme Q10 deficiency, primary, 5
COX10	99.65	Leigh syndrome due to mitochondrial COX4 deficiency
CRADD	99.63	Mental retardation, autosomal recessive 34, with variant lissencephaly
CRBN	98.86	Mental retardation, autosomal recessive 2
CREBBP	99.62	Rubinstein-Taybi syndrome 1
CSNK2A1	99.32	Okur-Chung neurodevelopmental syndrome
CSPP1	98.95	Joubert syndrome 21
CTC1	99.57	Cerebroretinal microangiopathy with calcifications and cysts
CTCF	99.65	Mental retardation, autosomal dominant 21
CTNNB1	99.65	Mental retardation, autosomal dominant 19
CTSA	99.59	Galactosialidosis
CTSD	94.51	Ceroid lipofuscinosis, neuronal, 10
CUL4B	84.65	Mental retardation, X-linked, syndromic 15 (Cabezas type)
CYB5R3	88.44	Methemoglobinemia, type I
CYP27A1	97.94	Cerebrotendinous xanthomatosis
D2HGDH	98.50	D-2-hydroxyglutaric aciduria
DAG1	99.69	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
DARS2	99.20	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DCAF17	93.81	Woodhouse-Sakati syndrome
DCC	99.55	Mirror movements 1 and/or agenesis of the corpus callosum
DCPS	99.69	Al-Raqad syndrome
DCX	96.94	Lissencephaly, X-linked
DDB2	99.69	Xeroderma pigmentosum, group E, DDB-negative subtype
DDHD2	97.74	Spastic paraplegia 54, autosomal recessive
DDX11	99.66	Warsaw breakage syndrome
DDX3X	96.52	Mental retardation, X-linked 102
DEAF1	92.63	Mental retardation, autosomal dominant 24
DHCR24	99.34	Desmosterolosis
DHCR7	99.68	Smith-Lemli-Opitz syndrome
DHFR	98.50	Megaloblastic anemia due to dihydrofolate reductase deficiency
DHX30	99.51	Lessel et al., AJHG 2017 : global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities.
DIAPH1	95.85	Seizures, cortical blindness, microcephaly syndrome
DKC1	91.60	Dyskeratosis congenita, X-linked
DLD	99.08	Dihydrolipoamide dehydrogenase deficiency
DLG3	98.91	Mental retardation, X-linked 90
DLL4	99.61	Adams-Oliver syndrome 6
DNAJC19	97.60	3-methylglutaconic aciduria, type V
DNM1	96.84	Epileptic encephalopathy, early infantile, 31
DNMT3A	99.69	Tatton-Brown-Rahman syndrome
DNMT3B	99.69	Immunodeficiency-centromeric instability-facial anomalies syndrome 1
DOCK6	97.92	Adams-Oliver syndrome 2
DOCK8	99.24	Hyper-IgE recurrent infection syndrome, autosomal recessive
DPAGT1	99.68	Congenital disorder of glycosylation, type Ij
DPH1	99.67	Developmental delay with short stature, dysmorphic features, and sparse hair
DPM1	99.27	Congenital disorder of glycosylation, type Ie
DPP6	99.57	Mental retardation, autosomal dominant 33
DSCAM	99.29	Wang et al., Nat Commun 2016 : Autisme
DYNC1H1	99.50	Mental retardation, autosomal dominant 13
DYRK1A	99.53	Mental retardation, autosomal dominant 7
EARS2	99.64	Combined oxidative phosphorylation deficiency 12
EBF3	98.59	Hypotonia, ataxia, and delayed development syndrome
EBP	99.89	MEND syndrome
ECHS1	98.49	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EDC3	99.68	Mental retardation, autosomal recessive 50
EEF1A2	88.74	Mental retardation, autosomal dominant 38
EFNB1	99.39	Craniofrontonasal dysplasia
EFTUD2	99.44	Mandibulofacial dysostosis, Guion-Almeida type
EHMT1	95.40	Kleefstra syndrome
EIF2AK3	94.12	Wolcott-Rallison syndrome
EIF2S3	97.88	Mental retardation, X-linked, syndromic, Borck type
ELOVL4	99.45	Ichthyosis, spastic quadriplegia, and mental retardation
ELP2	98.99	Mental retardation, autosomal recessive 58
EML1	96.28	Band heterotopia
EMX2	99.48	Schizencephaly
ENTPD1	99.05	Spastic paraplegia 64, autosomal recessive
EOGT	99.33	Adams-Oliver syndrome 4
EP300	99.56	Rubinstein-Taybi syndrome 2
EPB41L1	99.69	Mental retardation, autosomal dominant 11
EPG5	99.47	Vici syndrome
ERCC2	99.67	Cerebrooculofacioskeletal syndrome 2
ERCC3	99.68	Xeroderma pigmentosum, group B
ERCC4	99.35	Xeroderma pigmentosum, type F/Cockayne syndrome
ERCC5	99.48	Xeroderma pigmentosum, group G/Cockayne syndrome
ERCC6	99.07	Cerebrooculofacioskeletal syndrome 1
ERCC8	99.27	Cockayne syndrome, type A
ERLIN2	99.32	Spastic paraplegia 18, autosomal recessive
ESCO2	98.50	Roberts syndrome
ETHE1	99.60	Ethylmalonic encephalopathy
EXOSC3	99.53	Pontocerebellar hypoplasia, type 1B
EZH2	99.41	Weaver syndrome
EZR	99.63	Riecken et al., Hum Mut 2015 : ID
HYCC1	98.81	Leukodystrophy, hypomyelinating, 5
FARS2	99.56	Combined oxidative phosphorylation deficiency 14
FAT4	99.39	Van Maldergem syndrome 2
FBXL4	99.46	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
FBXO31	93.34	Mental retardation, autosomal recessive 45
FGD1	98.23	Mental retardation, X-linked syndromic 16
FGFR1	99.69	Hypogonadotropic hypogonadism 2 with or without anosmia
FGFR2	99.67	Saethre-Chotzen syndrome
FGFR3	95.86	Crouzon syndrome with acanthosis nigricans
FH	99.29	Fumarase deficiency
FKRP	85.03	Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
FKTN	99.13	Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4
FLNA	99.73	Heterotopia, periventricular
FMN2	99.05	Mental retardation, autosomal recessive 47
FMR1	94.48	Fragile X tremor/ataxia syndrome
FOLR1	99.69	Neurodegeneration due to cerebral folate transport deficiency
FOXG1	84.20	Rett syndrome, congenital variant
FOXP1	99.55	Mental retardation with language impairment and with or without autistic features
FOXP2	99.34	Speech-language disorder-1
FOXRED1	99.63	Leigh syndrome due to mitochondrial complex I deficiency
FRAS1	99.57	Fraser syndrome 1
FREM2	99.23	Fraser syndrome 2
FRMPD4	96.56	Mental retardation, X-linked 104
FTCD	95.82	Glutamate formiminotransferase deficiency
FTL	99.55	Neurodegeneration with brain iron accumulation 3
FTO	99.47	Growth retardation, developmental delay, facial dysmorphism
FTSJ1	99.69	Mental retardation, X-linked 9/44
FUCA1	98.18	Fucosidosis
GABRA3	87.08	Niturad et al., Brain 2017 : range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus.
GABRB3	94.66	Epileptic encephalopathy, early infantile, 43
GABRG2	99.57	Epilepsy, generalized, with febrile seizures plus, type 3
GALT	99.68	Galactosemia
GAMT	93.42	Cerebral creatine deficiency syndrome 2
GAN	98.90	Giant axonal neuropathy-1
GATAD2B	99.69	Mental retardation, autosomal dominant 18
GATM	94.01	Cerebral creatine deficiency syndrome 3
GBE1	98.82	Glycogen storage disease IV
GCH1	93.92	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
GCSH	86.02	Glycine encephalopathy
GDI1	95.21	Mental retardation, X-linked 41
GFAP	99.69	Alexander disease
GJC2	73.70	Leukodystrophy, hypomyelinating, 2
GLB1	99.56	GM1-gangliosidosis, type I
GLDC	97.83	Glycine encephalopathy
GLI2	98.60	Holoprosencephaly 9
GLI3	99.55	Greig cephalopolysyndactyly syndrome
GLUL	99.68	Glutamine deficiency, congenital
GLYCTK	99.69	D-glyceric aciduria
GM2A	99.68	GM2-gangliosidosis, AB variant
GMPPA	99.69	Alacrima, achalasia, and mental retardation syndrome
GMPPB	99.64	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
GNAI3	99.08	Auriculocondylar syndrome 1
GNAO1	99.66	Epileptic encephalopathy, early infantile, 17
GNAS	97.96	Pseudohypoparathyroidism Ia
GNPAT	97.06	Rhizomelic chondrodysplasia punctata, type 2
GNPTAB	99.49	Mucolipidosis II alpha/beta
GNPTG	90.19	Mucolipidosis III gamma
GNS	99.55	Mucopolysaccharidosis type IIID
GPC3	91.66	Simpson-Golabi-Behmel syndrome, type 1
GPHN	99.58	Molybdenum cofactor deficiency C
GPSM2	99.10	Chudley-McCullough syndrome
GPT2	95.20	Mental retardation, autosomal recessive 49
GRIA3	89.99	Mental retardation, X-linked 94
GRID2	99.47	Spinocerebellar ataxia, autosomal recessive 18
GRIK2	99.13	Mental retardation, autosomal recessive, 6
GRIN1	99.54	Mental retardation, autosomal dominant 8
GRIN2A	99.68	Epilepsy, focal, with speech disorder and with or without mental retardation
GRIN2B	99.66	Mental retardation, autosomal dominant 6
GRIP1	99.65	Fraser syndrome 3
GRM1	99.46	Spinocerebellar ataxia 44
GSS	99.59	Glutathione synthetase deficiency
GTF2E2	98.86	Trichothiodystrophy 6, nonphotosensitive
GTF2H5	99.64	Trichothiodystrophy 3, photosensitive
GTPBP3	97.37	Combined oxidative phosphorylation deficiency 23
GUSB	98.73	Mucopolysaccharidosis VII
HACE1	96.37	Spastic paraplegia and psychomotor retardation with or without seizures
HCFC1	99.76	Spastic paraplegia and psychomotor retardation with or without seizures
HCN1	94.14	Epileptic encephalopathy, early infantile, 24
HDAC4	99.68	Fisch et al., AJMG 2016 : ID
HDAC8	99.17	Cornelia de Lange syndrome 5
HECW2	99.50	Neurodevelopmental disorder with hypotonia, seizures, and absent language
HEPACAM	91.30	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
HERC1	99.49	Macrocephaly, dysmorphic facies, and psychomotor retardation
HERC2	99.66	Mental retardation, autosomal recessive 38
HESX1	98.36	Growth hormone deficiency with pituitary anomalies
HEXA	99.67	Tay-Sachs disease
HEXB	97.84	Sandhoff disease, infantile, juvenile, and adult forms
HGSNAT	94.00	Mucopolysaccharidosis type IIIC (Sanfilippo C)
HIVEP2	99.60	Mental retardation, autosomal dominant 43
HLCS	99.60	Holocarboxylase synthetase deficiency
HNMT	99.26	Mental retardation, autosomal recessive 51
HNRNPH2	99.85	Mental retardation, X-linked, syndromic, Bain type
HNRNPK	99.17	Au-Kline syndrome
HNRNPU	98.33	Epileptic encephalopathy, early infantile, 54
HOXA1	99.65	Athabaskan brainstem dysgenesis syndrome
HPRT1	75.78	Lesch-Nyhan syndrome
HRAS	99.69	Costello syndrome
HSD17B10	99.97	HSD10 mitochondrial disease
HSPG2	98.62	Dyssegmental dysplasia, Silverman-Handmaker type
HUWE1	97.92	Mental retardation, X-linked syndromic, Turner type
IARS1	99.32	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
IARS2	99.11	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
IDS	97.07	Mucopolysaccharidosis II
IDUA	77.72	Mucopolysaccharidosis Ih/s
IER3IP1	98.86	Microcephaly, epilepsy, and diabetes syndrome
IFIH1	99.07	Aicardi-Goutieres syndrome 7
IFT172	99.62	Short-rib thoracic dysplasia 10 with or without polydactyly
IFT27	99.69	Bardet-Biedl syndrome 19
IFT57	98.66	Thevenon et al., Clin Genet 2016 : Oro-facial-digital syndrome
IGF1	99.63	Growth retardation with deafness and mental retardation due to IGF1 deficiency
IL1RAPL1	93.86	Mental retardation, X-linked 21/34
INPP5E	98.14	Joubert syndrome 1
INTU	98.49	Bruel et al., JMG 2017 : oro-facial-digital syndrome
IQSEC2	97.05	Mental retardation, X-linked 1/78
IRX5	89.09	Hamamy syndrome
CRPPA	92.51	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
ITGA7	99.67	Muscular dystrophy, congenital, due to ITGA7 deficiency
ITPR1	99.38	Spinocerebellar ataxia 29, congenital nonprogressive
JAM3	99.20	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
KANSL1	99.63	Koolen-De Vries syndrome
KAT6A	99.60	Mental retardation, autosomal dominant 32
KAT6B	99.21	Genitopatellar syndrome
KCNC1	99.05	Epilepsy, progressive myoclonic 7
KCNC3	76.28	Spinocerebellar ataxia 13
KCNH1	98.56	Temple-Baraitser syndrome
KCNJ10	99.68	SESAME syndrome
KCNJ11	99.69	Diabetes, permanent neonatal, with or without neurologic features
KCNK9	99.67	Birk-Barel mental retardation dysmorphism syndrome
KCNMA1	99.54	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
KCNQ2	98.93	Epileptic encephalopathy, early infantile, 7
KCNQ5	96.45	Mental retardation, autosomal dominant 46
KCNT1	98.70	Epileptic encephalopathy, early infantile, 14
KCTD7	95.20	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
KDM1A	96.83	Cleft palate, psychomotor retardation, and distinctive facial features
KDM5C	99.87	Mental retardation, X-linked, syndromic, Claes-Jensen type
KDM6A	94.07	Kabuki syndrome 2
KIAA0586	92.34	Joubert syndrome 23
KIAA0753	99.23	Orofaciodigital syndrome XV
NEXMIF	97.66	Mental retardation, X-linked 98
KIF11	98.74	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
KIF1A	99.66	Mental retardation, autosomal dominant 9
KIFBP	96.44	Goldberg-Shprintzen megacolon syndrome
KIF4A	99.41	Mental retardation, X-linked 100
KIF5A	99.35	Myoclonus, intractable, neonatal
KIF5C	96.19	Cortical dysplasia, complex, with other brain malformations 2
KIF7	99.42	Joubert syndrome 12
KIRREL3	99.66	Mental retardation, autosomal dominant 4
KLC2	99.69	Spastic paraplegia, optic atrophy, and neuropathy
KMT2A	97.93	Wiedemann-Steiner syndrome
KMT2C	99.31	Kleefstra syndrome 2
KMT2D	99.67	Kabuki syndrome 1
KMT2E	98.54	Dong et al., Cell Rep 2014 : trouble du spectre autistique
KMT5B	99.31	Stessman et al., Nat Genet 2017 : autisme et retard dÃ©veloppemental
KNL1	92.70	Microcephaly 4, primary, autosomal recessive
KPTN	99.37	Mental retardation, autosomal recessive 41
KRAS	99.32	Noonan syndrome 3
L1CAM	99.66	CRASH syndrome
L2HGDH	98.45	L-2-hydroxyglutaric aciduria
LAMA1	99.13	Poretti-Boltshauser syndrome
LAMA2	99.46	Muscular dystrophy, congenital, due to partial LAMA2 deficiency
LAMB1	99.50	Lissencephaly 5
LAMC3	97.99	Cortical malformations, occipital
LAMP2	93.32	Danon disease
LARGE1	99.64	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
LARP7	97.40	Alazami syndrome
LAS1L	99.76	Wilson-Turner syndrome
LIAS	98.94	Hyperglycinemia, lactic acidosis, and seizures
LIG4	99.55	LIG4 syndrome
LINS1	98.65	Mental retardation, autosomal recessive 27
LIPT1	98.69	Lipoyltransferase 1 deficiency
LMBRD1	96.94	Methylmalonic aciduria and homocystinuria, cblF type
LMNA	99.49	Emery-Dreifuss muscular dystrophy 3, AR
LRP2	99.40	Donnai-Barrow syndrome
LZTFL1	98.67	Bardet-Biedl syndrome 17
LZTR1	99.56	Noonan syndrome 10
MAGEL2	98.06	Schaaf-Yang syndrome
MAN1B1	98.88	Mental retardation, autosomal recessive 15
MAN2B1	99.40	Mannosidosis, alpha-, types I and II
MANBA	99.01	Mannosidosis, beta
MAOA	85.51	Brunner syndrome
MAP2K1	99.62	Cardiofaciocutaneous syndrome 3
MAP2K2	99.01	Cardiofaciocutaneous syndrome 4
MASP1	99.59	3MC syndrome 1
MAT1A	99.66	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
MBD5	99.52	Mental retardation, autosomal dominant 1
MBOAT7	99.50	Mental retardation, autosomal recessive 57
MBTPS2	96.46	IFAP syndrome with or without BRESHECK syndrome
MCCC1	99.50	3-Methylcrotonyl-CoA carboxylase 1 deficiency
MCOLN1	93.43	Mucolipidosis IV
MCPH1	98.40	Microcephaly 1, primary, autosomal recessive
MECP2	89.77	Rett syndrome
MED12	99.82	Opitz-Kaveggia syndrome
MED13L	99.52	Mental retardation and distinctive facial features with or without cardiac defects
MED17	98.79	Microcephaly, postnatal progressive, with seizures and brain atrophy
MED23	98.87	Mental retardation, autosomal recessive 18
MEF2C	99.52	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
MEIS2	99.65	Cleft palate, cardiac defects, and mental retardation
METTL23	99.62	Mental retardation, autosomal recessive 44
MFSD8	99.30	Ceroid lipofuscinosis, neuronal, 7
MID1	97.46	Opitz GBBB syndrome, type I
MKKS	99.58	Bardet-Biedl syndrome 6
MKS1	99.54	Bardet-Biedl syndrome 13
MLYCD	87.33	Malonyl-CoA decarboxylase deficiency
MMACHC	99.68	Methylmalonic aciduria and homocystinuria, cblC type
MOCS1	99.68	Molybdenum cofactor deficiency A
MOCS2	99.48	Molybdenum cofactor deficiency B
MOGS	92.25	Congenital disorder of glycosylation, type IIb
MPDU1	99.69	Congenital disorder of glycosylation, type If
MPDZ	99.22	Hydrocephalus, nonsyndromic, autosomal recessive 2
MPLKIP	99.63	Trichothiodystrophy 4, nonphotosensitive
MTFMT	97.00	Combined oxidative phosphorylation deficiency 15
MTHFR	99.58	Homocystinuria due to MTHFR deficiency
MTM1	94.11	Myotubular myopathy, X-linked
MTOR	99.61	Smith-Kingsmore syndrome
MTR	99.55	Homocystinuria-megaloblastic anemia, cblG complementation type
MTRR	99.33	Homocystinuria-megaloblastic anemia, cbl E type
MVK	99.69	Mevalonic aciduria
MYCN	82.91	Feingold syndrome 1
MYO5A	97.60	Griscelli syndrome, type 1
MYT1L	99.59	Mental retardation, autosomal dominant 39
NAA10	87.47	Ogden syndrome
NACC1	99.66	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
NAGA	99.67	Schindler disease, type I
NAGLU	84.28	Mucopolysaccharidosis type IIIB (Sanfilippo B)
NALCN	99.38	Congenital contractures of the limbs and face, hypotonia, and developmental delay
NARS2	98.96	Combined oxidative phosphorylation deficiency 24
NBN	98.67	Nijmegen breakage syndrome
NDE1	99.69	Lissencephaly 4 (with microcephaly)
NDP	99.56	Norrie disease
NDST1	99.67	Mental retardation, autosomal recessive 46
NDUFA1	97.69	Mitochondrial complex I deficiency
NDUFA11	99.69	Mitochondrial complex I deficiency
NDUFA12	99.64	Leigh syndrome due to mitochondrial complex 1 deficiency
NDUFA2	99.69	Leigh syndrome due to mitochondrial complex I deficiency
NDUFA9	99.27	Leigh syndrome due to mitochondrial complex I deficiency
NDUFAF6	89.55	Leigh syndrome due to mitochondrial complex I deficiency
NDUFS2	99.25	Mitochondrial complex I deficiency
NDUFS3	99.67	Leigh syndrome due to mitochondrial complex I deficiency
NDUFS4	99.05	Mitochondrial complex I deficiency
NDUFS7	99.38	Leigh syndrome
NEDD4L	98.92	Periventricular nodular heterotopia 7
NFIA	99.44	Brain malformations and urinary tract defects
NFIX	99.64	Sotos syndrome 2
NGF	99.66	Neuropathy, hereditary sensory and autonomic, type V
NHEJ1	99.67	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NHP2	99.64	Dyskeratosis congenita, autosomal recessive 2
NHS	88.25	Nance-Horan syndrome
NIN	99.20	Seckel syndrome 7
NIPBL	98.53	Cornelia de Lange syndrome 1
NKX2-1	92.05	Choreoathetosis, hypothyroidism, and neonatal respiratory distress
NONO	98.37	Mental retardation, X-linked, syndromic 34
NOTCH1	96.74	Adams-Oliver syndrome 5
NPC1	98.34	Niemann-Pick disease, type C1
NPC2	99.67	Niemann-pick disease, type C2
NPHP1	99.24	Joubert syndrome 4
NPHP3	98.15	Meckel syndrome 7
NR2F1	86.66	Bosch-Boonstra-Schaaf optic atrophy syndrome
NR5A1	99.25	Adrenocortical insufficiency
NRAS	99.61	Noonan syndrome 6
NRXN1	99.52	Pitt-Hopkins-like syndrome 2
NSD1	99.26	Sotos syndrome 1
NSDHL	99.39	CHILD syndrome
NSUN2	95.86	Mental retardation, autosomal recessive 5
OCLN	99.47	Pseudo-TORCH syndrome 1
OCRL	92.17	Lowe syndrome
OFD1	92.99	Orofaciodigital syndrome I
OGT	96.41	Mental retardation, X-linked 106
OPHN1	90.64	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
ORC1	99.49	Meier-Gorlin syndrome 1
ORC4	98.60	Meier-Gorlin syndrome 2
ORC6	98.10	Meier-Gorlin syndrome 3
OSGEP	99.65	Braun et al., Nat Genet 2017 : Galloway-Mowat syndrome
OTC	92.10	Ornithine transcarbamylase deficiency
OTUD6B	97.03	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
PACS1	97.17	Schuurs-Hoeijmakers syndrome
PAFAH1B1	98.98	Lissencephaly 1
PAH	99.66	Phenylketonuria
PAK3	87.10	Mental retardation, X-linked 30/47
PANK2	95.75	Neurodegeneration with brain iron accumulation 1
PAX1	82.57	Otofaciocervical syndrome 2
PAX3	99.68	Craniofacial-deafness-hand syndrome
PAX6	99.51	Aniridia
PC	99.69	Pyruvate carboxylase deficiency
PCDH19	99.22	Epileptic encephalopathy, early infantile, 9
PCGF2	99.69	Fitzgerald et al., Nature 2015 : retard mental, retard dÃ©velopemental
PCNT	99.50	Microcephalic osteodysplastic primordial dwarfism, type II
PDE4D	97.76	Acrodysostosis 2, with or without hormone resistance
PDHA1	97.16	Pyruvate dehydrogenase E1-alpha deficiency
PDHB	99.40	Pyruvate dehydrogenase E1-beta deficiency
PDHX	98.49	Lacticacidemia due to PDX1 deficiency
PDSS1	82.84	Coenzyme Q10 deficiency, primary, 2
PDSS2	98.95	Coenzyme Q10 deficiency, primary, 3
PEPD	99.61	Prolidase deficiency
PEX1	98.83	Peroxisome biogenesis disorder 1A (Zellweger)
PEX10	83.86	Peroxisome biogenesis disorder 6A (Zellweger)
PEX11B	99.63	Peroxisome biogenesis disorder 14B
PEX12	99.40	Peroxisome biogenesis disorder 3A (Zellweger)
PEX13	99.25	Peroxisome biogenesis disorder 11A (Zellweger)
PEX14	99.66	Peroxisome biogenesis disorder 13A (Zellweger)
PEX16	99.69	Peroxisome biogenesis disorder 8A (Zellweger)
PEX19	99.60	Peroxisome biogenesis disorder 12A (Zellweger)
PEX2	99.69	Peroxisome biogenesis disorder 5A (Zellweger)
PEX26	96.96	Peroxisome biogenesis disorder 7A (Zellweger)
PEX3	98.89	Peroxisome biogenesis disorder 10A (Zellweger)
PEX5	99.15	Peroxisome biogenesis disorder 2A (Zellweger)
PEX6	98.57	Peroxisome biogenesis disorder 4A (Zellweger)
PEX7	90.36	Peroxisome biogenesis disorder 9B
PGAP1	97.25	Mental retardation, autosomal recessive 42
PGAP2	99.68	Hyperphosphatasia with mental retardation syndrome 3
PGAP3	99.15	Hyperphosphatasia with mental retardation syndrome 4
PGK1	99.16	Phosphoglycerate kinase 1 deficiency
PHC1	99.66	Microcephaly 11, primary, autosomal recessive
PHF6	84.23	Borjeson-Forssman-Lehmann syndrome
PHF8	99.04	Mental retardation syndrome, X-linked, Siderius type
PHGDH	99.67	Phosphoglycerate dehydrogenase deficiency
PHIP	95.93	Webster et al., Cold Spring Harb Mol Case Stud. 2016 : DD, ID, obÃ©sitÃ© et dysmorphies
PIGA	92.30	Multiple congenital anomalies-hypotonia-seizures syndrome 2
PIGG	99.54	Mental retardation, autosomal recessive 53
PIGL	99.59	CHIME syndrome
PIGN	97.78	Multiple congenital anomalies-hypotonia-seizures syndrome 1
PIGO	99.67	Hyperphosphatasia with mental retardation syndrome 2
PIGT	99.63	Multiple congenital anomalies-hypotonia-seizures syndrome 3
PIGV	99.66	Hyperphosphatasia with mental retardation syndrome 1
PIGW	99.68	Hyperphosphatasia with mental retardation syndrome 5
PIGY	99.66	Hyperphosphatasia with mental retardation syndrome 6
PIK3R2	91.70	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PLA2G6	99.69	Neurodegeneration with brain iron accumulation 2B
PLCB1	99.15	Epileptic encephalopathy, early infantile, 12
PLCB4	99.09	Auriculocondylar syndrome 2
PLOD1	98.58	Ehlers-Danlos syndrome, type VI
PLP1	99.86	Pelizaeus-Merzbacher disease
PMM2	98.47	Congenital disorder of glycosylation, type Ia
PNKP	99.68	Microcephaly, seizures, and developmental delay
PNP	99.66	Immunodeficiency due to purine nucleoside phosphorylase deficiency
POC1A	99.26	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
POGZ	98.81	White-Sutton syndrome
POLG	99.59	Mitochondrial DNA depletion syndrome 4B (MNGIE type)
POLH	99.55	Xeroderma pigmentosum, variant type
POLR3A	99.40	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
POLR3B	99.29	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
POMGNT1	99.66	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
POMGNT2	99.69	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
POMK	99.66	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
POMT1	99.56	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
POMT2	98.42	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
PORCN	99.91	Focal dermal hypoplasia
PPM1D	98.20	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
PPP1CB	99.40	Noonan syndrome-like disorder with loose anagen hair 2
PPP2R1A	99.69	Mental retardation, autosomal dominant 36
PPP2R5D	99.64	Mental retardation, autosomal dominant 35
PPT1	99.67	Ceroid lipofuscinosis, neuronal, 1
PQBP1	99.90	Renpenning syndrome
PRICKLE1	99.67	Epilepsy, progressive myoclonic 1B
PRMT7	99.21	Short stature, brachydactyly, intellectual developmental disability, and seizures
PRPS1	98.61	Arts syndrome
PRSS12	98.69	Mental retardation, autosomal recessive 1
PSAP	99.68	Krabbe disease, atypical
PSMD12	99.44	Stankiewicz-Isidor syndrome
PTCH1	97.64	Holoprosencephaly 7
PTCHD1	99.37	Autism, susceptibility to, X-linked 4
PTDSS1	99.56	Lenz-Majewski hyperostotic dwarfism
PTEN	98.68	Cowden syndrome 1
PTPN11	97.30	LEOPARD syndrome 1
PUF60	99.56	Verheij syndrome
PURA	84.89	Mental retardation, autosomal dominant 31
PUS1	93.31	Myopathy, lactic acidosis, and sideroblastic anemia 1
PYCR1	99.67	Cutis laxa, autosomal recessive, type IIB
QDPR	96.67	Hyperphenylalaninemia, BH4-deficient, C
RAB18	98.43	Warburg micro syndrome 3
RAB27A	95.80	Griscelli syndrome, type 2
RAB39B	99.96	Mental retardation, X-linked 72
RAB3GAP1	99.24	Warburg micro syndrome 1
RAB3GAP2	99.14	Martsolf syndrome
RAC1	87.43	Mental retardation, autosomal dominant 48
RAD21	99.34	Cornelia de Lange syndrome 4
RAF1	99.65	Noonan syndrome 5
RAI1	97.85	Smith-Magenis syndrome
RARB	99.52	Microphthalmia, syndromic 12
RARS2	99.20	Pontocerebellar hypoplasia, type 6
RASA2	95.15	Aoki et al., JHG 2016 : RASopathie
RAX	78.51	Microphthalmia, isolated 3
RBBP8	96.69	Seckel syndrome 2
RBM10	99.86	TARP syndrome
RBM28	99.55	Alopecia, neurologic defects, and endocrinopathy syndrome
RBM8A	99.68	Thrombocytopenia-absent radius syndrome
RBPJ	99.36	Adams-Oliver syndrome 3
RECQL4	91.13	Baller-Gerold syndrome
RELN	99.47	Lissencephaly 2 (Norman-Roberts type)
RERE	99.45	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
RFT1	97.48	Congenital disorder of glycosylation, type In
RIT1	99.66	Noonan syndrome 8
RMND1	98.79	Combined oxidative phosphorylation deficiency 11
RNASEH2A	99.69	Aicardi-Goutieres syndrome 4
RNASEH2B	90.13	Aicardi-Goutieres syndrome 2
RNASEH2C	96.74	Aicardi-Goutieres syndrome 3
RNASET2	99.45	Leukoencephalopathy, cystic, without megalencephaly
RNF113A	99.85	Trichothiodystrophy 5, nonphotosensitive
ROGDI	90.00	Kohlschutter-Tonz syndrome
RPGRIP1L	95.44	Joubert syndrome 7
RPIA	98.01	Ribose 5-phosphate isomerase deficiency
RPS6KA3	85.79	Coffin-Lowry syndrome
RRAS	94.39	Flex et al., HMG 2014 : RASopathie
RTEL1	99.69	Dyskeratosis congenita, autosomal recessive 5
RTTN	98.71	Microcephaly, short stature, and polymicrogyria with seizures
SALL1	99.68	Townes-Brocks branchiootorenal-like syndrome
SAMHD1	99.47	Aicardi-Goutieres syndrome 5
SATB2	99.46	Glass syndrome
SC5D	99.08	Lathosterolosis
SCN1A	98.95	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
SCN2A	98.85	Epileptic encephalopathy, early infantile, 11
SCN8A	99.37	Epileptic encephalopathy, early infantile, 13
SCO2	99.68	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
SDCCAG8	99.19	Bardet-Biedl syndrome 16
SDHAF1	66.11	Mitochondrial complex II deficiency
SEPSECS	99.07	Pontocerebellar hypoplasia type 2D
SERAC1	98.98	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SETBP1	98.39	Mental retardation, autosomal dominant 29
SETD2	99.30	Luscan-Lumish syndrome
SETD5	99.55	Mental retardation, autosomal dominant 23
SGSH	96.47	Mucopolysaccharidosis type IIIA (Sanfilippo A)
SHANK2	83.77	Autism susceptibility 17
SHANK3	78.63	Phelan-McDermid syndrome
SHH	90.25	Holoprosencephaly 3
SHOC2	97.89	Noonan-like syndrome with loose anagen hair
SHROOM4	99.52	Stocco dos Santos X-linked mental retardation syndrome
SIL1	99.65	Marinesco-Sjogren syndrome
SIN3A	99.56	Witteveen-Kolk syndrome
SIX3	89.54	Holoprosencephaly 2
SKI	93.23	Shprintzen-Goldberg syndrome
SLC12A6	99.13	Agenesis of the corpus callosum with peripheral neuropathy
SLC16A2	99.71	Allan-Herndon-Dudley syndrome
SLC17A5	98.53	Salla disease
SLC19A3	99.50	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)
SLC1A4	97.40	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
SLC25A1	86.05	Combined D-2- and L-2-hydroxyglutaric aciduria
SLC25A12	99.45	Epileptic encephalopathy, early infantile, 39
SLC25A15	99.57	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC25A19	99.66	Microcephaly, Amish type
SLC25A22	99.68	Epileptic encephalopathy, early infantile, 3
SLC2A1	93.34	GLUT1 deficiency syndrome 1, infantile onset, severe
SLC33A1	98.70	Congenital cataracts, hearing loss, and neurodegeneration
SLC35A2	99.98	Congenital disorder of glycosylation, type IIm
SLC35C1	99.69	Congenital disorder of glycosylation, type IIc
SLC45A1	92.61	Intellectual developmental disorder with neuropsychiatric features
SLC46A1	97.75	Folate malabsorption, hereditary
SLC4A4	99.23	Renal tubular acidosis, proximal, with ocular abnormalities
SLC6A1	99.61	Myoclonic-atonic epilepsy
SLC6A17	99.68	Mental retardation, autosomal recessive 48
SLC6A3	99.68	Parkinsonism-dystonia, infantile
SLC6A8	92.97	Cerebral creatine deficiency syndrome 1
SLC7A7	99.67	Lysinuric protein intolerance
SLC9A6	80.47	Mental retardation, X-linked syndromic, Christianson type
SMARCA2	97.63	Nicolaides-Baraitser syndrome
SMARCA4	99.68	Coffin-Siris syndrome 4
SMARCB1	99.47	Coffin-Siris syndrome 3
SMARCE1	98.87	Coffin-Siris syndrome 5
SMC1A	97.41	Cornelia de Lange syndrome 2
SMC3	98.62	Cornelia de Lange syndrome 3
SMOC1	98.99	Microphthalmia with limb anomalies
SMPD1	99.68	Niemann-Pick disease, type A
SMS	83.70	Mental retardation, X-linked, Snyder-Robinson type
SNAP29	98.97	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
SNIP1	99.59	Psychomotor retardation, epilepsy, and craniofacial dysmorphism
SNX14	97.83	Spinocerebellar ataxia, autosomal recessive 20
SOBP	96.13	Mental retardation, anterior maxillary protrusion, and strabismus
SON	99.42	ZTTK syndrome
SOS1	98.22	Noonan syndrome 4
SOS2	98.32	Noonan syndrome 9
SOX10	93.26	Waardenburg syndrome, type 2E, with or without neurologic involvement
SOX11	84.37	Mental retardation, autosomal dominant, 27
SOX2	95.94	Optic nerve hypoplasia and abnormalities of the central nervous system
SOX5	99.56	Lamb-Shaffer syndrome
AFG2A	98.88	Epilepsy, hearing loss, and mental retardation syndrome
SPECC1L	99.49	Opitz GBBB syndrome, type II
SPR	77.10	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
SPRED1	99.22	Legius syndrome
SPTAN1	99.48	Epileptic encephalopathy, early infantile, 5
SRCAP	99.65	Floating-Harbor syndrome
SRD5A3	96.86	Congenital disorder of glycosylation, type Iq
ST3GAL3	99.66	Mental retardation, autosomal recessive 12
ST3GAL5	85.32	Salt and pepper developmental regression syndrome
STAG1	98.01	Mental retardation, autosomal dominant 47
STAMBP	99.58	Microcephaly-capillary malformation syndrome
STIL	99.24	Microcephaly 7, primary, autosomal recessive
STRA6	99.67	Microphthalmia, syndromic 9
STT3A	99.55	Congenital disorder of glycosylation, type Iw
STT3B	95.54	Congenital disorder of glycosylation, type Ix
STX1B	99.68	Generalized epilepsy with febrile seizures plus, type 9
STXBP1	99.55	Epileptic encephalopathy, early infantile, 4
SUCLG1	98.06	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
SUOX	99.68	Sulfite oxidase deficiency
SURF1	86.96	Leigh syndrome, due to COX IV deficiency
SYN1	88.25	Epilepsy, X-linked, with variable learning disabilities and behavior disorders
SYNCRIP	99.45	Lelieveld et al., Nat Neurosci 2016 : ID
SYNE1	99.44	Spinocerebellar ataxia, autosomal recessive 8
SYNGAP1	99.68	Mental retardation, autosomal dominant 5
SYP	93.14	Mental retardation, X-linked 96
SYT14	88.69	Spinocerebellar ataxia, autosomal recessive 11
TAF1	97.05	Mental retardation, X-linked, syndromic 33
TAF2	98.57	Mental retardation, autosomal recessive 40
TBC1D23	97.70	Pontocerebellar hypoplasia, type 11
TBC1D24	99.68	Epileptic encephalopathy, early infantile, 16
TBC1D7	98.94	Macrocephaly/megalencephaly syndrome, autosomal recessive
TBCE	98.41	Hypoparathyroidism-retardation-dysmorphism syndrome
TBCK	98.05	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
TBL1XR1	98.00	Mental retardation, autosomal dominant 41
TCF20	99.69	SchÃ¤fgen et al., EJHG 2016 : TSA, DI, croissance excessive et hypotonie
TCF4	99.65	Pitt-Hopkins syndrome
TCOF1	99.61	Treacher Collins syndrome 1
TCTN1	99.08	Joubert syndrome 13
TCTN2	99.05	Joubert syndrome 24
TCTN3	99.61	Joubert syndrome 18
TECPR2	99.41	Spastic paraplegia 49, autosomal recessive
TECR	99.69	Mental retardation, autosomal recessive 14
TFAP2A	99.48	Branchiooculofacial syndrome
TGIF1	99.69	Holoprosencephaly 4
TH	98.57	Segawa syndrome, recessive
THOC2	91.08	Mental retardation, X-linked 12/35
THOC6	99.66	Beaulieu-Boycott-Innes syndrome
THRA	99.60	Hypothyroidism, congenital, nongoitrous, 6
TIMM8A	99.66	Mohr-Tranebjaerg syndrome
TINF2	99.67	Dyskeratosis congenita, autosomal dominant 3
TMCO1	95.48	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
TMEM107	99.69	Orofaciodigital syndrome XVI
TMEM138	99.68	Joubert syndrome 16
TMEM165	87.14	Congenital disorder of glycosylation, type IIk
TMEM216	99.69	Joubert syndrome 2
TMEM231	99.62	Joubert syndrome 20
TMEM237	97.88	Joubert syndrome 14
TMEM67	97.57	Joubert syndrome 6
TMEM70	97.01	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TNK2	99.30	Hitomi et al., Ann Neurol 2013 : severe autosomal recessive infantile-onset epilepsy and ID
TPK1	98.92	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
TPP1	99.65	Spinocerebellar ataxia, autosomal recessive 7
TRAPPC11	98.70	Muscular dystrophy, limb-girdle, type 2S
TRAPPC9	99.57	Mental retardation, autosomal recessive 13
TREX1	99.69	Aicardi-Goutieres syndrome 1, dominant and recessive
TRIM32	99.68	Bardet-Biedl syndrome 11
TRIO	97.17	Mental retardation, autosomal dominant 44
TRIP12	99.18	Zhang et al., Hum Gen 2017 : intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
TRMT10A	99.08	Microcephaly, short stature, and impaired glucose metabolism 1
TRMU	94.99	Liver failure, transient infantile
TRPV4	99.64	Spondylometaphyseal dysplasia, Kozlowski type
TSEN2	99.60	Pontocerebellar hypoplasia type 2B
TSEN54	87.28	Pontocerebellar hypoplasia type 2A
TSFM	85.15	Combined oxidative phosphorylation deficiency 3
TSPAN7	98.69	Mental retardation, X-linked 58
SKIC3	99.17	Trichohepatoenteric syndrome 1
TTC8	98.67	Bardet-Biedl syndrome 8
TTI2	99.57	Mental retardation, autosomal recessive 39
TUBA1A	99.69	Lissencephaly 3
TUBA8	97.24	Cortical dysplasia, complex, with other brain malformations 8
TUBB2A	95.11	Cortical dysplasia, complex, with other brain malformations 5
TUBB2B	99.68	Cortical dysplasia, complex, with other brain malformations 7
TUBB3	94.69	Cortical dysplasia, complex, with other brain malformations 1
TUBB4A	98.34	Leukodystrophy, hypomyelinating, 6
TUBG1	99.69	Cortical dysplasia, complex, with other brain malformations 4
TUBGCP6	99.69	Microcephaly and chorioretinopathy, autosomal recessive, 1
TUSC3	99.45	Mental retardation, autosomal recessive 7
TWIST1	59.51	Saethre-Chotzen syndrome
UBE2A	81.32	Mental retardation, X-linked syndromic, Nascimento-type
UBE3A	98.84	Angelman syndrome
UBE3B	99.43	Kaufman oculocerebrofacial syndrome
UBR1	98.99	Johanson-Blizzard syndrome
UNC80	99.46	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
UPF3B	90.82	Mental retardation, X-linked, syndromic 14
UQCRQ	99.62	Mitochondrial complex III deficiency, nuclear type 4
UROC1	99.69	Urocanase deficiency
USP18	99.69	Pseudo-TORCH syndrome 2
USP9X	93.59	Mental retardation, X-linked 99
VLDLR	97.10	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
VPS13B	98.95	Cohen syndrome
VRK1	99.08	Pontocerebellar hypoplasia type 1A
WAC	97.24	Desanto-Shinawi syndrome
WDPCP	98.77	Bardet-Biedl syndrome 15
WDR26	99.46	Skraban-Deardorff syndrome
WDR45	99.94	Neurodegeneration with brain iron accumulation 5
WDR45B	98.84	Suleiman et al., Clin Genet 2017 : intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia
WDR62	99.58	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
WDR73	99.54	Galloway-Mowat syndrome
WDR81	99.65	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WWOX	99.63	Epileptic encephalopathy, early infantile, 28
XPA	95.49	Xeroderma pigmentosum, group A
XPC	99.66	Xeroderma pigmentosum, group C
XYLT1	91.40	Desbuquois dysplasia 2
YAP1	95.59	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
YY1	97.61	Gabriele-de Vries syndrome
ZBTB16	99.69	Skeletal defects, genital hypoplasia, and mental retardation
ZBTB18	99.10	Mental retardation, autosomal dominant 22
ZBTB20	99.63	Primrose syndrome
ZBTB24	99.63	Immunodeficiency-centromeric instability-facial anomalies syndrome-2
ZC4H2	97.81	Wieacker-Wolff syndrome
ZDHHC9	98.90	Mental retardation, X-linked syndromic, Raymond type
ZEB2	99.54	Mowat-Wilson syndrome
ZFYVE26	99.53	Spastic paraplegia 15, autosomal recessive
ZIC2	67.20	Holoprosencephaly 5
ZMPSTE24	98.68	Mandibuloacral dysplasia with type B lipodystrophy
ZMYND11	99.50	Mental retardation, autosomal dominant 30
ZNF335	99.63	Microcephaly 10, primary, autosomal recessive
ZNF41	99.90	Shoichet et al., AJHG 2013 : X-Linked Mental Retardation
ZNF711	89.61	Mental retardation, X-linked 97

Movement Disorders - ULG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AARS1	100.00	0
ABAT	100.00	0
ACTB	100.00	0
ACTL6B	100.00	0
ADAR	100.00	0
ADCY5	94.82	0
ADPRS	97.19	0
AFG3L2	95.73	0
AGTPBP1	97.48	0
AIMP1	100.00	0
ALDH5A1	91.82	0
ALG13	99.52	0
ALG6	100.00	0
ALS2	100.00	0
AMT	100.00	0
ANO3	99.99	0
AOPEP	98.17	0
AP3D1	100.00	0
AP4M1	100.00	0
AP5Z1	100.00	0
APTX	100.00	0
ARG1	100.00	0
ARHGEF9	100.00	0
ARSA	100.00	0
ARV1	100.00	0
ARX	76.27	0
ASAH1	100.00	0
ASNS	100.00	0
ASS1	100.00	0
ATAD1	100.00	0
ATCAY	100.00	0
ATM	100.00	0
ATN1	100.00	0
ATP13A2	99.13	0
ATP1A2	99.91	0
ATP1A3	100.00	0
ATP6AP2	98.93	0
ATP7B	100.00	0
ATP8A2	100.00	0
ATXN2	97.08	0
AUH	98.84	0
BCAP31	100.00	0
BCKDHA	100.00	0
BCKDHB	100.00	0
BCS1L	100.00	0
BSCL2	100.00	0
BTK	100.00	0
C19ORF12	100.00	0
C9ORF72	100.00	0
CA8	100.00	0
CACNA1A	100.00	0
CACNA1B	95.99	0
CACNA1E	99.97	0
CACNA1G	100.00	0
CACNB4	100.00	0
CARS2	95.22	0
CBS	100.00	0
CDKL5	99.33	0
CEP290	99.99	0
CHCHD2	100.00	0
CHMP2B	100.00	0
CHRNA2	99.97	0
CHRNA4	99.98	0
CHRNB2	100.00	0
CIZ1	99.96	0
CLCN2	100.00	0
CLCN3	100.00	0
CLCN6	100.00	0
CLPB	100.00	0
CLTC	100.00	0
CNTNAP1	100.00	0
COASY	100.00	0
COL6A3	100.00	0
COQ8A	100.00	0
COQ9	100.00	0
COX10	100.00	0
COX15	100.00	0
COX20	100.00	0
CP	99.98	0
CRAT	100.00	0
CRH	100.00	0
CRLF1	89.13	0
CSF1R	100.00	0
CSTB	100.00	0
CTC1	100.00	0
CTDP1	90.20	0
CTNNB1	100.00	0
CTSA	100.00	0
CTSD	100.00	0
CTSF	89.18	0
CUL4B	98.64	0
CWF19L1	100.00	0
CYB5R3	95.77	0
CYFIP2	100.00	0
CYP27A1	99.38	0
DARS1	100.00	0
DBT	100.00	0
DCAF17	99.11	0
DCC	100.00	0
DCTN1	100.00	0
DDC	100.00	0
DEGS1	100.00	0
DEPDC5	100.00	0
DHDDS	100.00	0
DHX30	100.00	0
DLAT	100.00	0
DLD	100.00	0
DMXL2	99.99	0
DNAJB2	100.00	0
DNAJC12	100.00	0
DNAJC13	100.00	0
DNAJC19	100.00	0
DNAJC5	100.00	0
DNAJC6	100.00	0
DNAL4	100.00	0
DNM1L	100.00	0
DNMT1	99.83	0
EARS2	100.00	0
ECHS1	100.00	0
EEF1A2	98.47	0
ELOVL4	100.00	0
EPRS1	100.00	0
ETHE1	100.00	0
FA2H	92.84	0
FARS2	100.00	0
FASTKD2	100.00	0
FBXL4	100.00	0
FBXO7	100.00	0
FGF14	100.00	0
FITM2	100.00	0
FOLR1	100.00	0
FOXG1	87.63	0
FOXRED1	100.00	0
FRRS1L	87.33	0
FTL	100.00	0
FUCA1	99.67	0
FUS	100.00	0
FXN	96.07	0
GABRA2	100.00	0
GABRB2	100.00	0
GALT	100.00	0
GAMT	98.07	0
GBA1	100.00	0
GBE1	100.00	0
GCDH	100.00	0
GCH1	98.16	0
GFAP	100.00	0
GFM1	100.00	0
GFM2	99.99	0
GJC2	88.27	0
GLB1	100.00	0
GLDC	97.21	0
GLRA1	100.00	0
GLRB	100.00	0
GM2A	100.00	0
GNAL	100.00	0
GNAO1	100.00	0
GNB1	100.00	0
GOSR2	100.00	0
GPHN	100.00	0
GPR88	77.04	0
GRID2	100.00	0
GRIN1	100.00	0
GRIN2B	100.00	0
GRN	100.00	0
GSX2	100.00	0
GTPBP2	99.48	0
HECW2	100.00	0
HEXA	100.00	0
HEXB	99.87	0
HIBCH	100.00	0
HPRT1	97.15	0
HSD17B10	100.00	0
HTT	99.18	0
IFIH1	100.00	0
IREB2	100.00	0
IRF2BPL	99.88	0
IVD	100.00	0
JAM2	100.00	0
JPH3	100.00	0
KCNA1	100.00	0
KCNA2	100.00	0
KCNA4	100.00	0
KCNC3	78.67	0
KCND3	100.00	0
KCNMA1	100.00	0
KCNQ2	100.00	0
KCNT1	99.92	0
KCTD17	95.63	0
KCTD7	99.64	0
KIF1C	100.00	0
KIF5A	100.00	0
KMT2B	96.75	0
L2HGDH	100.00	0
LIAS	100.00	0
LIPT1	100.00	0
LIPT2	92.08	0
LMNB1	98.51	0
LRPPRC	100.00	0
LRRK2	100.00	0
LYST	100.00	0
MAPT	100.00	0
MARS2	100.00	0
MCEE	100.00	0
MCOLN1	98.10	0
MDH2	100.00	0
MECP2	100.00	0
MECR	100.00	0
MED20	100.00	0
MEF2C	100.00	0
MFSD8	100.00	0
MICU1	100.00	0
MMAA	100.00	0
MMAB	100.00	0
MMADHC	100.00	0
MMUT	100.00	0
MPV17	100.00	0
MRE11	100.00	0
MRPS34	99.28	0
MTHFR	100.00	0
MTR	100.00	0
MTRFR	100.00	0
MTRR	100.00	0
MYBPC1	100.00	0
MYORG	100.00	0
NALCN	100.00	0
NAXD	100.00	0
NDUFA1	100.00	0
NDUFA10	99.52	0
NDUFA12	100.00	0
NDUFA2	100.00	0
NDUFA9	100.00	0
NDUFAF2	100.00	0
NDUFAF4	100.00	0
NDUFAF5	100.00	0
NDUFAF6	95.34	0
NDUFS1	100.00	0
NDUFS3	100.00	0
NDUFS4	100.00	0
NDUFS7	100.00	0
NDUFS8	100.00	0
NDUFV1	100.00	0
NEU1	100.00	0
NGLY1	100.00	0
NHLRC2	100.00	0
NKX2-1	89.99	0
NKX6-2	70.62	0
NPC1	100.00	0
NPC2	100.00	0
NTN1	94.10	0
NTNG2	91.87	0
NUP62	100.00	0
MED12	100.00	0
OPA3	100.00	0
PAH	100.00	0
PANK2	95.70	0
PARK7	100.00	0
PODXL	96.85	0
PCBD1	92.74	0
PCCA	100.00	0
PCCB	100.00	0
PCDH12	100.00	0
PCDH19	100.00	0
PDE10A	100.00	0
PDE2A	100.00	0
PDE8B	97.56	0
PDGFB	100.00	0
PDGFRB	100.00	0
PDHA1	100.00	0
PDHB	100.00	0
PDHX	100.00	0
PDYN	100.00	0
PEX16	100.00	0
PGK1	100.00	0
PIGP	100.00	0
PINK1	91.10	0
PLA2G6	100.00	0
PLEKHG2	100.00	0
PLP1	100.00	0
PMM2	100.00	0
PMPCB	100.00	0
PNKD	100.00	0
PNKP	100.00	0
PNPLA8	100.00	0
PNPT1	100.00	0
POLG	100.00	0
POLR1C	100.00	0
POLR3A	100.00	0
PPT1	100.00	0
PRICKLE1	100.00	0
PRKCG	100.00	0
PRKN	100.00	0
PRKRA	100.00	0
PRNP	100.00	0
PRRT2	100.00	0
PTRHD1	100.00	0
PTS	100.00	0
PUM1	100.00	0
PURA	88.25	0
QDPR	99.38	0
RAB11B	100.00	0
RAB39B	100.00	0
RAD51	100.00	0
RELN	100.00	0
REPS1	100.00	0
RHOBTB2	100.00	0
RNF216	100.00	0
SACS	100.00	0
SCARB2	100.00	0
SCN11A	99.99	0
SCN1A	100.00	0
SCN2A	100.00	0
SCN4A	100.00	0
SCN8A	100.00	0
SCP2	100.00	0
SCYL1	100.00	0
SDHA	98.70	0
SDHAF1	96.31	0
SDHD	100.00	0
SEPSECS	100.00	0
SERAC1	100.00	0
SETD5	100.00	0
SETX	100.00	0
SGCE	100.00	0
SLC16A2	100.00	0
SLC18A2	100.00	0
SLC19A3	99.96	0
SLC1A3	100.00	0
SLC20A2	100.00	0
SLC25A19	100.00	0
SLC25A42	99.96	0
SLC2A1	100.00	0
SLC30A10	100.00	0
SLC30A9	100.00	0
SLC39A14	99.95	0
SLC39A8	99.72	0
SLC44A1	97.36	0
SLC6A1	100.00	0
SLC6A3	100.00	0
SLC6A5	100.00	0
SLC6A8	96.54	0
SLC9A6	97.84	0
SMPD1	100.00	0
SNCA	100.00	0
SPG11	100.00	0
SPOP	100.00	0
SPR	97.94	0
SPTBN2	100.00	0
SQSTM1	95.44	0
SRD5A3	98.74	0
ST3GAL5	92.43	0
STUB1	99.46	0
STXBP1	100.00	0
SUCLA2	100.00	0
SUCLG1	99.97	0
SUMF1	100.00	0
SUOX	100.00	0
SURF1	92.90	0
SYNE1	100.00	0
SYNJ1	100.00	0
SYT1	100.00	0
TACO1	99.96	0
TAF1	100.00	0
TANGO2	100.00	0
TARDBP	100.00	0
TBC1D24	100.00	0
TBK1	100.00	0
TBL1XR1	100.00	0
TENM4	100.00	0
TGM6	100.00	0
TH	100.00	0
THAP1	100.00	0
TIMM8A	100.00	0
TMEM240	100.00	0
TOR1A	100.00	0
TPI1	100.00	0
TPK1	100.00	0
TRAK1	100.00	0
TRAPPC11	100.00	0
TRAPPC12	100.00	0
TREM2	100.00	0
TRIT1	100.00	0
TSC1	100.00	0
TSC2	100.00	0
TSEN2	100.00	0
TSEN54	94.95	0
TSFM	92.64	0
TTPA	87.42	0
TUBB4A	100.00	0
TXN2	100.00	0
TYROBP	100.00	0
UBA5	100.00	0
UBQLN2	99.91	0
UBR4	99.78	0
UBTF	100.00	0
UFM1	100.00	0
UGDH	100.00	0
UNC13A	99.92	0
UQCRQ	100.00	0
VAC14	100.00	0
VAMP1	100.00	0
VAMP2	100.00	0
VCP	98.45	0
VPS13A	100.00	0
VPS13C	100.00	0
VPS13D	100.00	0
VPS16	100.00	0
VPS35	100.00	0
VPS41	100.00	0
VPS4A	100.00	0
VWA3B	100.00	0
WARS2	100.00	0
WDR45	100.00	0
WDR73	100.00	0
WDR81	100.00	0
WWOX	100.00	0
XK	99.86	0
XPA	99.77	0
XPC	100.00	0
XPR1	100.00	0
YY1	100.00	0
ZC4H2	100.00	0
ZFYVE26	100.00	0
ZNF142	100.00	0

Pediatric oncopredisposition - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
A2ML1	99.97	1
ABCB11	99.86	1
ACD	100.00	1
AIP	99.99	1
ALK	99.93	1
APC	99.97	1
ASXL1	100.00	1
ATM	99.83	1
RNF2	99.99	1
BLM	99.80	1
BMPR1A	99.58	1
BRAF	99.78	1
BRCA1	98.33	1
BRCA2	99.99	1
BRIP1	99.39	1
BUB1B	100.00	1
CBL	99.95	1
CD27	99.95	1
CD70	99.99	1
CDC73	99.60	1
CDH1	99.98	1
CDK4	100.00	1
CDKN1B	100.00	1
CDKN1C	100.00	1
CDKN2A	100.00	1
CEBPA	100.00	1
CEP57	99.92	1
CREBBP	99.97	1
CTC1	100.00	1
CTLA4	99.99	1
CTR9	99.98	1
DDB2	100.00	1
DICER1	99.96	1
DIS3L2	99.90	1
DKC1	99.59	1
DNAJC21	99.67	1
EFL1	99.83	1
EGLN1	99.86	1
EGLN2	99.97	1
ELP1	99.96	1
EPAS1	99.99	1
EPCAM	99.89	1
ERCC2	99.98	1
ERCC3	99.90	1
ERCC4	99.92	1
ERCC5	99.99	1
ERCC6L2	99.94	1
ETV6	99.99	1
EZH2	99.89	1
FANCA	100.00	1
FANCB	99.24	1
FANCC	99.98	1
FANCD2	99.86	1
FANCE	99.99	1
FANCF	100.00	1
FANCG	100.00	1
FANCI	99.96	1
FANCL	99.67	1
FAS	99.99	1
FBXW7	99.90	1
FH	99.95	1
GATA1	99.97	1
GATA2	99.99	1
GPC3	99.60	1
GPC4	99.89	1
GPR161	99.92	1
HAVCR2	99.93	1
HRAS	100.00	1
IKZF1	99.92	1
ITK	99.91	1
KRAS	99.13	1
L2HGDH	99.92	1
LIG4	100.00	1
LZTR1	99.46	1
MAP2K1	99.98	1
MAP2K2	99.99	1
MAX	99.96	1
MDH2	99.54	1
MDM4	99.43	1
MEN1	99.98	1
MLH1	99.64	1
MRAS	99.97	1
MSH2	99.23	1
MSH6	99.97	1
MYSM1	94.16	1
NBN	99.93	1
NF1	99.88	1
NF2	100.00	1
NHP2	99.96	1
NOP10	99.99	1
NRAS	99.66	1
NSD1	99.98	1
PALB2	99.71	1
PARN	99.75	1
PAX5	99.82	1
PHOX2B	99.98	1
PIK3CA	99.74	1
PMS2	70.47	1
POLD1	99.96	1
POLE	99.99	1
POLH	99.85	1
POT1	99.91	1
PPP1CB	99.89	1
PRF1	100.00	1
PRKAR1A	100.00	1
PTCH1	99.99	1
PTEN	99.89	1
PTPN11	99.98	1
RAF1	99.97	1
RB1	99.84	1
RECQL4	100.00	1
REST	99.99	1
RET	99.97	1
RIT1	99.78	1
RMRP	100.00	1
RPL11	99.81	1
RPL15	31.77	1
RPL18	100.00	1
RPL26	30.55	1
RPL27	99.83	1
RPL35	99.99	1
RPL35A	97.55	1
RPL5	28.81	1
RPS10	0.00	1
RPS15A	22.14	1
RPS17	100.00	1
RPS19	100.00	1
RPS24	91.48	1
RPS26	8.99	1
RPS27	27.45	1
RPS28	100.00	1
RPS29	99.96	1
RPS7	88.50	1
RRAS	99.98	1
RRAS2	99.94	1
RTEL1	100.00	1
RUNX1	100.00	1
SAMD9	99.93	1
SAMD9L	99.95	1
SBDS	99.93	1
SDHA	99.98	1
SDHAF2	99.96	1
SDHB	97.32	1
SDHC	99.67	1
SDHD	82.93	1
SETBP1	100.00	1
SH2D1A	98.98	1
SHOC2	99.96	1
SLX4	100.00	1
SMARCA4	99.99	1
SMARCB1	99.99	1
SMARCE1	99.87	1
SOS1	99.68	1
SOS2	99.39	1
SRP72	99.91	1
STK11	100.00	1
SUFU	100.00	1
TERC	98.59	1
TERT	100.00	1
TINF2	100.00	1
TMEM127	99.99	1
TP53	99.98	1
TRIM28	100.00	1
TRIM37	98.19	1
TRIP13	100.00	1
TSC1	99.99	1
TSC2	99.98	1
TSR2	99.96	1
UBE2T	99.89	1
USB1	89.62	1
VHL	100.00	1
WAS	99.90	1
WRAP53	100.00	1
WT1	99.99	1
XPA	99.68	1
XPC	99.98	1
SRP54	99.90	1

Skin disorders - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AAAS	99.88	1
AAGAB	100.00	1
ABCA12	99.94	1
ABCB6	99.97	1
ABHD5	99.98	1
ADAM10	99.88	1
ADAR	99.84	1
ADGRE2	98.77	1
ALDH3A2	99.95	1
ALOX12B	100.00	1
ALOXE3	99.98	1
ALX4	100.00	1
ANTXR1	99.83	1
ANTXR2	99.67	1
AP1S1	99.49	1
AP3B1	99.89	1
AP3D1	100.00	1
APCDD1	99.99	1
AQP5	99.88	1
ARHGAP31	100.00	1
ARSL	99.93	1
ATP2A2	99.98	1
ATP6V1B2	99.99	1
ATP7A	99.87	1
AXIN2	100.00	1
BANF1	99.84	1
BCS1L	99.99	1
BLM	99.80	1
BLOC1S3	100.00	1
BLOC1S6	99.98	1
BMS1	85.80	1
BRAF	99.78	1
C1QA	99.99	1
C1QB	99.58	1
C1QC	99.97	1
C5	99.92	1
CARD11	99.97	1
CARD14	99.99	1
CASP10	99.85	1
CASP14	99.86	1
CASP8	99.92	1
CAST	99.94	1
CBL	99.95	1
CD151	100.00	1
CDH1	99.98	1
CDH3	99.98	1
CDKN1B	100.00	1
CDKN1C	100.00	1
CDSN	99.94	1
CERS3	99.85	1
CHST8	100.00	1
CHUK	99.83	1
CLDN1	99.99	1
CLDN10	99.97	1
COG6	99.86	1
COL17A1	99.98	1
COL18A1	99.99	1
COL7A1	99.99	1
COX7B	99.86	1
CYP11B1	100.00	1
CSTB	99.99	1
CSTA	99.83	1
CTLA4	99.99	1
CTSC	99.97	1
CYLD	99.46	1
CYP11A1	99.99	1
CYP21A2	99.85	1
CYP26C1	99.92	1
CYP4F22	99.97	1
DCAF17	99.84	1
DCLRE1C	99.79	1
DCPS	99.98	1
DDB2	100.00	1
DHCR24	99.93	1
DIP2B	99.65	1
DKC1	99.59	1
DLL4	100.00	1
DOCK6	100.00	1
DOCK8	99.86	1
DPH1	100.00	1
DSC3	99.73	1
DSG1	99.35	1
DSG3	99.97	1
DSG4	99.91	1
DSP	100.00	1
DST	99.52	1
DSTYK	99.83	1
DTNBP1	99.89	1
GLB1	99.92	1
EDA	99.44	1
EDAR	99.89	1
EDARADD	99.98	1
EDN3	100.00	1
EDNRA	99.97	1
EDNRB	99.99	1
ELOVL4	99.91	1
ENPP1	99.88	1
EOGT	99.09	1
EPG5	99.95	1
ERCC2	99.98	1
ERCC3	99.90	1
ERCC4	99.92	1
ERCC5	99.99	1
ERCC6	99.60	1
ERCC8	99.79	1
EVC	99.95	1
EVC2	99.97	1
EXPH5	99.81	1
F12	99.99	1
FAM111B	99.98	1
FAS	99.99	1
FASLG	99.84	1
FECH	99.98	1
FERMT1	99.90	1
FGFR1	98.88	1
FGFR3	100.00	1
FOXN1	99.97	1
FZD6	99.95	1
GBA1	96.92	1
GINS1	99.99	1
GJA1	100.00	1
GJB2	100.00	1
GJB3	99.99	1
GJB4	100.00	1
GJB6	100.00	1
GPR143	99.60	1
GREM2	100.00	1
GRHL2	100.00	1
GRIN2B	99.99	1
GTF2E2	100.00	1
GTF2H5	100.00	1
HCCS	99.90	1
HOXC13	99.98	1
HPGD	99.98	1
HPS1	100.00	1
HPS3	99.91	1
HPS4	99.98	1
HPS5	99.91	1
HPS6	100.00	1
HR	99.95	1
HRAS	100.00	1
HSPA9	99.96	1
IFT122	99.98	1
IFT43	99.97	1
IKBKG	57.34	1
IL2RA	99.99	1
IL31RA	100.00	1
ITGA3	99.86	1
ITGA6	99.78	1
ITGB4	99.99	1
ITPR2	99.13	1
JUP	99.94	1
KCNH1	99.92	1
KCTD1	99.99	1
KDF1	99.86	1
KDSR	99.99	1
KEAP1	100.00	1
KIT	99.86	1
KITLG	99.46	1
KLHL24	99.90	1
KRAS	99.13	1
KREMEN1	99.88	1
KRT1	99.89	1
KRT10	100.00	1
KRT13	99.98	1
KRT14	99.99	1
KRT16	100.00	1
KRT17	100.00	1
KRT2	99.88	1
KRT3	99.89	1
KRT5	99.98	1
KRT6A	100.00	1
KRT6B	99.95	1
KRT6C	96.59	1
KRT7	99.87	1
KRT74	99.92	1
KRT83	100.00	1
KRT85	99.97	1
KRT9	100.00	1
LAMA4	99.90	1
LAMB3	99.99	1
LAMC2	99.54	1
LBR	99.66	1
LIPH	99.99	1
LIPN	99.94	1
LMNA	99.96	1
LMNB2	99.99	1
LORICRIN	100.00	1
LPAR6	99.99	1
LRMDA	99.87	1
LRP1	99.94	1
LYST	99.87	1
LZTR1	99.46	1
MBTPS2	99.81	1
MC1R	100.00	1
MC2R	100.00	1
MC4R	100.00	1
MCM4	99.96	1
MEN1	99.98	1
MITF	99.98	1
MLPH	100.00	1
MMP1	99.99	1
MPDU1	99.97	1
MPLKIP	99.99	1
MSX1	100.00	1
MYO5A	99.94	1
NECTIN1	99.99	1
NECTIN4	99.97	1
NF1	99.88	1
NFKBIA	99.99	1
NIPAL4	100.00	1
NLRC4	99.95	1
NLRP1	95.26	1
NLRP12	99.99	1
NLRP3	100.00	1
NNT	99.87	1
NOP10	99.99	1
NOTCH1	99.98	1
NR5A1	99.92	1
NRAS	99.66	1
NSDHL	99.87	1
OCA2	99.60	1
OSMR	99.95	1
PADI3	99.35	1
PAX3	100.00	1
PAX6	99.95	1
PDGFRB	99.99	1
PEPD	99.98	1
PEX7	99.72	1
PGM3	99.94	1
PHGDH	99.79	1
PHYH	100.00	1
PIEZO1	99.98	1
PIGL	99.98	1
PIGT	99.95	1
PKP1	99.98	1
PLCD1	99.98	1
PLCG2	99.99	1
PLEC	100.00	1
PMVK	99.60	1
PNPLA1	99.98	1
PNPLA2	100.00	1
PNPLA6	99.99	1
POFUT1	100.00	1
POGLUT1	99.99	1
POLA1	99.57	1
POLH	99.85	1
POMC	99.99	1
NT5C3A	99.95	1
PORCN	99.93	1
HCRT	99.85	1
PRKCD	99.96	1
PRKD1	99.96	1
PSAT1	99.98	1
PSENEN	100.00	1
PSMB8	99.96	1
PTCH1	99.99	1
PTEN	99.89	1
PTPN11	99.98	1
PTPRF	99.92	1
RAB27A	99.94	1
RAD50	99.75	1
RAF1	99.97	1
RAG1	100.00	1
RAG2	100.00	1
RBM28	99.99	1
RBPJ	99.96	1
RECQL4	100.00	1
RET	99.97	1
RHBDF2	99.95	1
RIN2	99.99	1
RIT1	99.78	1
RMRP	100.00	1
RSPO1	99.99	1
SCN9A	99.83	1
SDR9C7	99.99	1
SERPINB7	99.93	1
SERPINB8	99.98	1
SERPING1	100.00	1
SGPL1	99.95	1
SHOC2	99.96	1
SLC24A5	99.99	1
SLC27A4	100.00	1
SLC29A3	99.98	1
SLC39A4	100.00	1
SLC45A2	100.00	1
SLURP1	100.00	1
SMARCA2	99.95	1
SMARCAD1	99.86	1
SNAI2	100.00	1
SNAP29	99.85	1
SNRPE	99.26	1
SOS1	99.68	1
SOS2	99.39	1
SOX10	100.00	1
SOX18	100.00	1
SPINK5	99.91	1
SPINT1	100.00	1
SPRED1	99.99	1
SRD5A3	99.94	1
ST14	100.00	1
ST3GAL5	99.96	1
STAT3	99.97	1
STIM1	99.99	1
STK11	100.00	1
STS	99.81	1
SULT2B1	99.92	1
SUMF1	99.95	1
TAT	99.99	1
TCHH	99.94	1
TERC	98.59	1
TGM1	99.82	1
TGM3	100.00	1
TGM5	100.00	1
TINF2	100.00	1
TP63	99.97	1
TRPM1	99.96	1
TRPS1	100.00	1
TRPV3	99.90	1
TWIST2	100.00	1
TXNRD2	99.97	1
TYRP1	99.97	1
UBR1	99.93	1
UROD	99.32	1
UROS	100.00	1
USB1	89.62	1
VCX	96.04	1
VCX3A	85.19	1
WDR19	99.80	1
WDR35	99.92	1
WNT10A	100.00	1
XPA	99.68	1
XPC	99.98	1
ZMPSTE24	98.70	1