1. Analytes
  2. CISD2

CISD2

Analyte Export to PDF
Name:
CDGSH iron sulfur domain 2
Symbol:
CISD2
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
ERIS
Miner1
NAF-1
endoplasmic reticulum intermembrane small protein
mitoNEET related 1
nutrient-deprivation autophagy factor-1
XREF(s):
Orphanet
Reactome
Ensembl
Genatlas
HGNC
OMIM
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Hearing loss (deafness) (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABHD12 99.11 1
    ACTG1 100.00 1
    ADCY1 98.44 1
    ADGRV1 99.88 1
    AIFM1 99.43 1
    ATOH1 100.00 1
    ATP11A 99.99 1
    ATP2B2 99.96 1
    ATP6V0A4 99.83 1
    ATP6V1B1 99.92 1
    ATP6V1B2 99.91 1
    BDP1 99.89 1
    BSND 100.00 1
    CABP2 99.99 1
    CACNA1D 99.94 1
    CCDC50 99.92 1
    CD164 99.92 1
    CDC14A 99.95 1
    CDH23 99.95 1
    CEACAM16 99.92 1
    CEP250 99.98 1
    CEP78 99.83 1
    CHD7 99.96 1
    CIB2 99.99 1
    CISD2 99.95 1
    CLDN14 100.00 1
    CLIC5 99.98 1
    CLPP 100.00 1
    CLRN1 99.97 1
    COCH 99.90 1
    COL11A1 99.89 1
    COL11A2 99.35 1
    COL2A1 100.00 1
    COL4A3 99.94 1
    COL4A4 99.96 1
    COL4A5 99.18 1
    COL4A6 99.37 1
    COL9A1 99.98 1
    COL9A2 99.95 1
    COL9A3 99.86 1
    CRYL1 99.89 1
    CRYM 99.91 1
    DCDC2 99.93 1
    DIABLO 99.98 1
    DIAPH1 97.50 1
    DIAPH3 99.86 1
    DMXL2 99.40 1
    DNAAF10 99.97 1
    EDN3 100.00 1
    EDNRB 99.94 1
    ELMOD3 100.00 1
    EPHA10 97.51 1
    EPS8 99.87 1
    EPS8L2 99.87 1
    ERAL1 99.97 1
    ESPN 96.05 1
    ESRP1 99.81 1
    ESRRB 100.00 1
    EYA1 99.93 1
    EYA4 99.98 1
    FDXR 99.98 1
    FGF3 98.11 1
    FOXI1 100.00 1
    GATA3 99.89 1
    GIPC3 97.45 1
    GJB2 100.00 1
    GJB3 100.00 1
    GJB6 100.00 1
    GPSM2 99.94 1
    GRHL2 99.95 1
    GRXCR1 100.00 1
    GRXCR2 99.91 1
    GSDME 99.97 1
    HARS1 99.99 1
    HARS2 99.51 1
    HECTD3 99.39 1
    HGF 99.96 1
    HOMER2 99.74 1
    HOXA2 99.93 1
    HSD17B4 99.80 1
    IFNLR1 99.52 1
    ILDR1 99.95 1
    KARS1 99.91 1
    KCNE1 100.00 1
    KCNJ10 100.00 1
    KCNQ1 99.87 1
    KCNQ4 99.49 1
    KITLG 99.87 1
    LARS2 99.99 1
    LHFPL5 99.99 1
    LMX1A 100.00 1
    LOXHD1 99.73 1
    LRTOMT 99.99 1
    MARVELD2 99.96 1
    MCM2 99.96 1
    MET 99.97 1
    MIR96 100.00 1
    MITF 99.97 1
    MPZL2 99.96 1
    MSRB3 99.96 1
    MTAP 98.96 1
    MYH14 99.79 1
    MYH9 100.00 1
    MYO15A 99.59 1
    MYO3A 99.84 1
    MYO6 99.77 1
    MYO7A 99.99 1
    NARS2 99.94 1
    NDP 99.95 1
    NLRP3 99.90 1
    OSBPL2 100.00 1
    OTOA 99.83 1
    OTOF 99.95 1
    OTOG 99.99 1
    OTOGL 99.63 1
    P2RX2 99.91 1
    PAX3 99.98 1
    PCDH15 99.94 1
    PDE1C 99.92 1
    PDZD7 99.82 1
    PI4KB 99.55 1
    PJVK 99.79 1
    PLS1 99.80 1
    PNPT1 99.86 1
    POLR1B 99.95 1
    POLR1C 97.52 1
    POLR1D 99.72 1
    POU3F4 99.94 1
    POU4F3 100.00 1
    PPIP5K2 99.83 1
    PRPS1 99.79 1
    PTPRQ 99.83 1
    RDX 99.80 1
    REST 99.96 1
    RIPOR2 99.96 1
    ROR1 98.58 1
    S1PR2 100.00 1
    SALL1 99.99 1
    SEMA3E 99.97 1
    SERPINB6 98.21 1
    SIX1 100.00 1
    SIX5 99.87 1
    SLC12A2 98.96 1
    SLC17A8 99.95 1
    SLC22A4 99.96 1
    SLC26A4 99.95 1
    SLC26A5 99.95 1
    SLC4A11 99.99 1
    SLC7A8 99.99 1
    SLITRK6 100.00 1
    SMPX 99.37 1
    SNAI2 99.98 1
    SOX10 100.00 1
    SPATC1L 100.00 1
    SSBP1 99.99 1
    STRC 99.73 1
    SYNE4 100.00 1
    TBC1D24 99.97 1
    TCOF1 99.96 1
    TECTA 99.97 1
    THRAP3 99.89 1
    TIMM8A 99.78 1
    TJP2 99.94 1
    TMC1 99.83 1
    TMEM132E 99.75 1
    TMIE 99.95 1
    TMPRSS3 99.95 1
    TMTC2 99.96 1
    TNC 99.97 1
    TPRN 90.56 1
    TRIOBP 99.09 1
    TSPEAR 99.97 1
    TWNK 100.00 1
    USH1C 98.72 1
    USH1G 99.96 1
    USH2A 99.95 1
    USP48 99.80 1
    WBP2 99.86 1
    WFS1 100.00 1
    WHRN 99.69 1
  • Hearing loss (deafness) syndromic (59 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ATP6V0A4
    ATP6V1B1
    BSND
    CDH23
    CHD7
    CISD2
    CLPP
    CLRN1
    COL11A1
    COL11A2
    COL2A1
    COL4A3
    COL4A4
    COL4A5
    COL9A1
    COL9A2
    COL9A3
    WHRN
    DIAPH1
    EDN3
    EDNRB
    ERAL1
    EYA1
    ADGRV1
    HARS1
    HARS2
    HSD17B4
    KCNE1
    KCNQ1
    KITLG
    LARS2
    MITF
    MT-RNR1
    MT-TL1
    MT-TS1
    MYH9
    MYO7A
    NARS2
    NDP
    NLRP3
    PAX3
    PCDH15
    PDZD7
    TWNK
    POLR1C
    POLR1D
    SEMA3E
    SIX1
    SIX5
    SLC26A4
    SLITRK6
    SNAI2
    SOX10
    TBC1D24
    TCOF1
    USH1C
    USH1G
    USH2A
    WFS1
  • Intellectual disability (gene panel)
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 97.92 0 No comment
    AAAS 98.73 0 No comment
    AARS1 98.82 0 No comment
    AASS 98.51 0 No comment
    ABAT 99.40 0 No comment
    ABCB11 98.30 0 No comment
    ABCB7 94.65 0 No comment
    ABCC6 99.58 0 No comment
    ABCC8 99.33 0 No comment
    ABCC9 99.05 0 No comment
    ABCD1 97.12 0 No comment
    ABCD4 98.90 0 No comment
    ABCG5 99.05 0 No comment
    ABHD12 89.63 0 No comment
    ABHD5 97.97 0 No comment
    ACAD9 99.34 0 No comment
    ACADM 97.15 0 No comment
    ACADS 99.06 0 No comment
    ACADSB 96.29 0 No comment
    ACADVL 98.55 0 No comment
    ACAN 98.12 0 No comment
    ACAT1 97.08 0 No comment
    ACBD6 99.00 0 No comment
    ACE2 97.24 0 No comment
    ACIN1 99.19 0 No comment
    ACO2 98.76 0 No comment
    ACOT9 97.29 0 No comment
    ACOX1 98.24 0 No comment
    ACP5 98.80 0 No comment
    ACSF3 99.18 0 No comment
    ACSL4 91.66 0 No comment
    ACTA2 99.56 0 No comment
    ACTB 99.87 0 No comment
    ACTG1 99.91 0 No comment
    ACTL6A 99.12 0 No comment
    ACTL6B 98.82 0 No comment
    ACVR1 99.30 0 No comment
    ACY1 99.53 0 No comment
    ADA 98.79 0 No comment
    ADAM22 97.86 0 No comment
    ADAMTS10 99.11 0 No comment
    ADAR 99.42 0 No comment
    ADARB1 93.73 0 No comment
    ADAT3 98.92 0 No comment
    COQ8A 99.33 0 No comment
    ADCY5 95.67 0 No comment
    ADD3 99.21 0 No comment
    ADK 98.15 0 No comment
    ADNP 99.77 0 No comment
    ADPRS 96.99 0 No comment
    ADRA2B 99.24 0 No comment
    ADSL 99.02 0 No comment
    AFF2 96.88 0 No comment
    AFF3 99.12 0 No comment
    AFF4 99.25 0 No comment
    AFG3L2 96.83 0 No comment
    AFP 98.35 0 No comment
    AGA 99.31 0 No comment
    AGK 99.23 0 No comment
    AGL 98.86 0 No comment
    AGMO 98.98 0 No comment
    AGO1 99.33 0 No comment
    AGPAT2 95.70 0 No comment
    AGPS 96.48 0 No comment
    AGT 99.43 0 No comment
    AGTR2 99.44 0 No comment
    AGXT 99.20 0 No comment
    AHCY 99.37 0 No comment
    AHDC1 99.43 0 No comment
    AHI1 98.72 0 No comment
    AIFM1 96.67 0 No comment
    AIMP1 96.59 0 No comment
    AIMP2 99.14 0 No comment
    AIPL1 99.50 0 No comment
    AIRE 97.18 0 No comment
    AK1 99.47 0 No comment
    AK2 98.26 0 No comment
    AKAP17A 96.52 0 No comment
    AKAP4 99.11 0 No comment
    AKAP6 99.28 0 No comment
    AKR1C2 99.87 0 No comment
    AKR1D1 99.35 0 No comment
    AKT1 99.32 0 No comment
    AKT3 97.83 0 No comment
    ALAD 99.59 0 No comment
    ALDH18A1 99.49 0 No comment
    ALDH1A3 96.21 0 No comment
    ALDH3A2 98.54 0 No comment
    ALDH4A1 98.01 0 No comment
    ALDH5A1 96.17 0 No comment
    ALDH7A1 98.33 0 No comment
    ALDOA 99.58 0 No comment
    ALDOB 99.46 0 No comment
    ALG1 99.07 0 No comment
    ALG11 99.81 0 No comment
    ALG12 99.70 0 No comment
    ALG13 91.46 0 No comment
    ALG14 98.86 0 No comment
    ALG2 99.56 0 No comment
    ALG3 98.85 0 No comment
    ALG6 98.37 0 No comment
    ALG8 99.11 0 No comment
    ALG9 98.84 0 No comment
    ALKBH8 98.86 0 No comment
    ALMS1 99.15 0 No comment
    ALPL 99.07 0 No comment
    ALS2 98.98 0 No comment
    ALX1 99.69 0 No comment
    ALX3 96.22 0 No comment
    ALX4 99.35 0 No comment
    AMER1 99.70 0 No comment
    AMPD2 99.08 0 No comment
    AMT 99.79 0 No comment
    ANK3 99.57 0 No comment
    ANKH 99.15 0 No comment
    ANKRD11 97.84 0 No comment
    ANO10 98.75 0 No comment
    ANO3 99.47 0 No comment
    ANO5 99.01 0 No comment
    ANTXR1 94.84 0 No comment
    AP1B1 99.25 0 No comment
    AP1S1 95.66 0 No comment
    AP1S2 85.55 0 No comment
    AP2M1 98.28 0 No comment
    AP3B1 98.71 0 No comment
    AP3B2 98.28 0 No comment
    AP4B1 99.39 0 No comment
    AP4E1 98.53 0 No comment
    AP4M1 99.53 0 No comment
    AP4S1 99.30 0 No comment
    AP5Z1 98.97 0 No comment
    APC2 94.47 0 No comment
    COA8 95.39 0 No comment
    APTX 98.38 0 No comment
    AQP7 99.87 0 No comment
    AR 95.56 0 No comment
    ARCN1 96.22 0 No comment
    ARFGEF2 98.65 0 No comment
    ARG1 99.07 0 No comment
    ARHGAP31 99.50 0 No comment
    ARHGAP36 98.64 0 No comment
    ARHGAP6 95.05 0 No comment
    ARHGEF2 98.52 0 No comment
    ARHGEF4 99.40 0 No comment
    ARHGEF6 94.23 0 No comment
    ARHGEF9 96.24 0 No comment
    ARID1A 97.52 0 No comment
    ARID1B 95.00 0 No comment
    ARID2 99.53 0 No comment
    ARIH1 98.86 0 No comment
    ARL13B 97.87 0 No comment
    ARL14EP 97.37 0 No comment
    ARL6 98.82 0 No comment
    ODAD2 98.89 0 No comment
    ARMC9 98.71 0 No comment
    ARSA 99.35 0 No comment
    ARSB 96.85 0 No comment
    ARSL 94.37 0 No comment
    ARSF 93.30 0 No comment
    ARV1 99.17 0 No comment
    ARX 75.98 0 No comment
    ASAH1 98.03 0 No comment
    ASB12 96.10 0 No comment
    ASCC3 98.81 0 No comment
    ASCL1 98.32 0 No comment
    ASH1L 99.56 0 No comment
    ASL 98.41 0 No comment
    ASMT 92.35 0 No comment
    ASMTL 99.94 0 No comment
    ASNS 99.40 0 No comment
    ASPA 98.77 0 No comment
    ASPH 98.90 0 No comment
    ASPM 99.12 0 No comment
    ASS1 99.61 0 No comment
    ASTN1 99.12 0 No comment
    ASXL1 99.32 0 No comment
    ASXL2 94.54 0 No comment
    ASXL3 98.97 0 No comment
    ATAD1 95.52 0 No comment
    ATAD3A 98.34 0 No comment
    ATCAY 99.48 0 No comment
    ATIC 98.97 0 No comment
    ATL1 96.64 0 No comment
    ATM 98.13 0 No comment
    ATN1 98.73 0 No comment
    ATP13A2 99.25 0 No comment
    ATP1A1 98.42 0 No comment
    ATP1A2 98.77 0 No comment
    ATP1A3 99.51 0 No comment
    ATP2A2 98.83 0 No comment
    ATP2B3 97.71 0 No comment
    ATP6AP1 96.58 0 No comment
    ATP6AP2 93.72 0 No comment
    ATP6V0A2 99.30 0 No comment
    ATP6V1A 97.97 0 No comment
    ATP6V1B1 98.05 0 No comment
    ATP6V1B2 98.55 0 No comment
    ATP7A 96.22 0 No comment
    ATP7B 99.52 0 No comment
    ATP8A2 99.53 0 No comment
    ATP8B1 98.96 0 No comment
    ATR 98.89 0 No comment
    ATRX 95.60 0 No comment
    ATXN1 99.33 0 No comment
    ATXN10 98.33 0 No comment
    ATXN2 91.35 0 No comment
    ATXN3 98.93 0 No comment
    ATXN3L 99.08 0 No comment
    ATXN7 95.21 0 No comment
    AUH 99.00 0 No comment
    AUTS2 98.29 0 No comment
    AVP 86.48 0 No comment
    AVPR2 99.55 0 No comment
    AWAT2 98.86 0 No comment
    B3GALNT2 96.88 0 No comment
    B3GALT6 74.99 0 No comment
    B3GLCT 95.44 0 No comment
    B4GALNT1 98.73 0 No comment
    B4GALT1 97.25 0 No comment
    B4GALT7 93.89 0 No comment
    B9D1 98.92 0 No comment
    BBS1 99.26 0 No comment
    BBS10 99.67 0 No comment
    BBS12 99.69 0 No comment
    BBS2 98.90 0 No comment
    BBS4 98.91 0 No comment
    BBS5 98.35 0 No comment
    BBS7 99.11 0 No comment
    BBS9 98.84 0 No comment
    BCAP31 92.90 0 No comment
    BCKDHA 99.19 0 No comment
    BCKDHB 99.14 0 No comment
    BCKDK 98.03 0 No comment
    BCL11A 99.29 0 No comment
    BCL11B 95.65 0 No comment
    BCOR 98.20 0 No comment
    BCORL1 98.79 0 No comment
    BCS1L 99.07 0 No comment
    BDP1 99.48 0 No comment
    BEAN1 99.42 0 No comment
    BFSP2 99.16 0 No comment
    BGN 97.15 0 No comment
    BHLHA9 83.99 0 No comment
    BICD2 99.34 0 No comment
    BIN1 99.27 0 No comment
    BLM 97.69 0 No comment
    BMP15 94.45 0 No comment
    BMP4 99.03 0 No comment
    BMPER 99.17 0 No comment
    BMPR1B 99.45 0 No comment
    BOLA3 98.55 0 No comment
    BPIFB6 98.75 0 No comment
    BPTF 96.21 0 No comment
    BRAF 97.62 0 No comment
    BRAT1 98.61 0 No comment
    BRCA1 99.65 0 No comment
    BRCA2 98.74 0 No comment
    BRD4 90.53 0 No comment
    BRF1 97.49 0 No comment
    BRIP1 98.87 0 No comment
    BRPF1 99.09 0 No comment
    BRSK2 97.89 0 No comment
    BRWD3 96.19 0 No comment
    BSCL2 99.32 0 No comment
    BSND 99.48 0 No comment
    BTD 99.63 0 No comment
    BTK 96.82 0 No comment
    BUB1B 98.89 0 No comment
    C12ORF4 98.72 0 No comment
    C12ORF57 99.66 0 No comment
    MTRFR 98.21 0 No comment
    CCDC32 98.00 0 No comment
    VPS35L 98.65 0 No comment
    C19ORF12 98.79 0 No comment
    C2CD3 98.92 0 No comment
    PCARE 98.64 0 No comment
    DIPK2A 99.10 0 No comment
    ODAPH 99.74 0 No comment
    CPLANE1 98.94 0 No comment
    CFAP418 98.78 0 No comment
    C9ORF72 98.10 0 No comment
    CA2 99.35 0 No comment
    CA5A 99.23 0 No comment
    CA8 99.30 0 No comment
    CACNA1A 98.14 0 No comment
    CACNA1B 96.02 0 No comment
    CACNA1C 99.14 0 No comment
    CACNA1D 99.31 0 No comment
    CACNA1E 99.29 0 No comment
    CACNA1F 97.17 0 No comment
    CACNA1G 99.06 0 No comment
    CACNA1H 98.12 0 No comment
    CACNA1S 98.76 0 No comment
    CACNA2D2 95.24 0 No comment
    CACNA2D3 98.17 0 No comment
    CACNB4 99.35 0 No comment
    CACNG2 99.57 0 No comment
    CAD 99.05 0 No comment
    CAMK2A 99.63 0 No comment
    CAMK2B 97.56 0 No comment
    CAMK2G 96.97 0 No comment
    CAMTA1 99.08 0 No comment
    CANT1 98.12 0 No comment
    CAP1 99.44 0 No comment
    CAPN10 99.27 0 No comment
    CAPRIN1 99.09 0 No comment
    CAPZA2 96.21 0 No comment
    CARS1 99.79 0 No comment
    CARS2 96.59 0 No comment
    KNL1 96.88 0 No comment
    CASK 95.86 0 No comment
    CASP2 99.05 0 No comment
    CASR 99.36 0 No comment
    CBL 98.79 0 No comment
    CBS 99.88 0 No comment
    CC2D1A 98.90 0 No comment
    CC2D2A 98.66 0 No comment
    CCBE1 98.76 0 No comment
    CCDC103 99.47 0 No comment
    ODAD1 99.10 0 No comment
    CCDC115 99.59 0 No comment
    CCDC22 97.58 0 No comment
    SVBP 99.76 0 No comment
    CCDC39 98.58 0 No comment
    CCDC40 98.68 0 No comment
    CEP83 98.29 0 No comment
    CCDC47 98.08 0 No comment
    CCDC65 99.18 0 No comment
    CCDC78 99.72 0 No comment
    CCDC8 99.54 0 No comment
    CCDC88A 98.66 0 No comment
    CCDC88C 99.06 0 No comment
    CCNA2 99.24 0 No comment
    CCNB3 99.08 0 No comment
    CCND2 98.80 0 No comment
    CCNO 99.50 0 No comment
    CCT5 98.48 0 No comment
    CD96 98.95 0 No comment
    CD99 99.96 0 No comment
    CDC42 98.38 0 No comment
    CDC42BPB 99.25 0 No comment
    CDC45 99.38 0 No comment
    CDC6 98.74 0 No comment
    CDH11 99.46 0 No comment
    CDH15 99.37 0 No comment
    CDH2 99.12 0 No comment
    CDH23 98.80 0 No comment
    CDH3 99.16 0 No comment
    CDK10 99.78 0 No comment
    CDK13 95.98 0 No comment
    CDK16 98.07 0 No comment
    CDK19 99.08 0 No comment
    CDK5R1 99.67 0 No comment
    CDK5RAP2 99.35 0 No comment
    CDK8 96.11 0 No comment
    CDKL5 93.83 0 No comment
    CDKN1C 86.67 0 No comment
    CDON 98.33 0 No comment
    CDT1 91.10 0 No comment
    CENPF 98.91 0 No comment
    CENPJ 99.50 0 No comment
    CEP104 99.17 0 No comment
    CEP135 96.95 0 No comment
    CEP152 98.51 0 No comment
    CEP290 98.38 0 No comment
    CEP41 98.54 0 No comment
    CEP55 99.06 0 No comment
    CEP57 98.39 0 No comment
    CEP63 98.63 0 No comment
    CFP 97.99 0 No comment
    CHAMP1 99.90 0 No comment
    CHD2 98.65 0 No comment
    CHD3 98.02 0 No comment
    CHD4 99.40 0 No comment
    CHD7 99.13 0 No comment
    CHD8 99.13 0 No comment
    CHKB 97.91 0 No comment
    DDX11 98.90 0 No comment
    CHM 89.56 0 No comment
    CHMP1A 98.78 0 No comment
    CHRDL1 97.84 0 No comment
    CHRNA2 99.41 0 No comment
    CHRNA4 98.72 0 No comment
    CHRNB2 99.57 0 No comment
    CHRNG 99.02 0 No comment
    CHST14 98.06 0 No comment
    CHST3 99.63 0 No comment
    CHSY1 93.60 0 No comment
    CHUK 98.09 0 No comment
    CIB2 98.54 0 No comment
    CIC 98.17 0 No comment
    CISD2 97.44 0 No comment
    CIT 99.14 0 No comment
    CKAP2L 99.24 0 No comment
    CLCN2 99.53 0 No comment
    CLCN4 98.32 0 No comment
    CLCN5 98.19 0 No comment
    CLCN7 97.43 0 No comment
    CLCNKA 99.53 0 No comment
    CLCNKB 99.55 0 No comment
    CLDN19 98.68 0 No comment
    CLIC2 95.82 0 No comment
    CLN3 99.63 0 No comment
    CLN5 98.95 0 No comment
    CLN6 94.08 0 No comment
    CLN8 99.98 0 No comment
    CLP1 99.53 0 No comment
    CLPB 98.72 0 No comment
    CLPP 98.67 0 No comment
    CLTC 98.69 0 No comment
    CMC4 96.87 0 No comment
    CNKSR1 99.49 0 No comment
    CNKSR2 95.65 0 No comment
    CNNM2 99.22 0 No comment
    CNOT1 98.98 0 No comment
    CNOT2 99.08 0 No comment
    CNOT3 98.24 0 No comment
    CNTN3 99.26 0 No comment
    CNTN4 99.15 0 No comment
    CNTNAP2 99.12 0 No comment
    COA3 99.34 0 No comment
    COA5 99.73 0 No comment
    COASY 98.90 0 No comment
    COG1 99.22 0 No comment
    COG4 99.26 0 No comment
    COG5 98.95 0 No comment
    COG6 98.53 0 No comment
    COG7 99.10 0 No comment
    COG8 99.58 0 No comment
    COL10A1 98.73 0 No comment
    COL11A1 99.16 0 No comment
    COL11A2 99.40 0 No comment
    COL18A1 98.80 0 No comment
    COL1A1 98.56 0 No comment
    COL1A2 99.53 0 No comment
    COL25A1 99.68 0 No comment
    COL2A1 99.63 0 No comment
    COL4A1 98.90 0 No comment
    COL4A2 98.81 0 No comment
    COL4A3 98.60 0 No comment
    CERT1 98.80 0 No comment
    COL4A4 99.18 0 No comment
    COL4A6 96.60 0 No comment
    COL6A1 99.30 0 No comment
    COL6A3 99.58 0 No comment
    COL9A1 99.37 0 No comment
    COL9A2 99.12 0 No comment
    COL9A3 95.16 0 No comment
    COLEC10 98.66 0 No comment
    COLEC11 99.77 0 No comment
    COMP 99.30 0 No comment
    COQ2 97.65 0 No comment
    COQ4 98.65 0 No comment
    COQ5 98.41 0 No comment
    COQ9 98.96 0 No comment
    COX10 99.59 0 No comment
    COX14 97.55 0 No comment
    COX15 99.27 0 No comment
    COX6B1 99.22 0 No comment
    COX7B 98.33 0 No comment
    CP 98.56 0 No comment
    CPA6 99.18 0 No comment
    HOMER2 98.16 0 No comment
    CPS1 99.26 0 No comment
    CPXCR1 98.61 0 No comment
    CRADD 98.71 0 No comment
    CRB1 99.41 0 No comment
    CRB2 98.33 0 No comment
    CRBN 99.00 0 No comment
    CREBBP 99.20 0 No comment
    CRLF2 96.34 0 No comment
    CRX 99.30 0 No comment
    CRYAA 99.93 0 No comment
    CRYBA1 99.47 0 No comment
    CRYBA4 99.30 0 No comment
    CRYBB1 99.71 0 No comment
    CRYBB2 99.21 0 No comment
    CRYBB3 97.71 0 No comment
    CRYGC 99.70 0 No comment
    CRYGD 99.70 0 No comment
    CSDE1 99.37 0 No comment
    CSF1R 98.97 0 No comment
    CSF2RA 88.66 0 No comment
    CSNK1G1 98.84 0 No comment
    CSNK2A1 99.27 0 No comment
    CSNK2B 99.56 0 No comment
    CSPP1 98.55 0 No comment
    CSTB 99.72 0 No comment
    CSTF2 95.94 0 No comment
    CTBP1 96.89 0 No comment
    CTC1 99.15 0 No comment
    CTCF 98.88 0 No comment
    CTDP1 96.55 0 No comment
    CCN2 97.14 0 No comment
    CTNNA2 98.80 0 No comment
    CTNNB1 99.57 0 No comment
    CTNND2 94.20 0 No comment
    CTNS 99.36 0 No comment
    CTPS2 96.99 0 No comment
    CTSA 99.45 0 No comment
    CTSD 99.18 0 No comment
    CTSF 96.71 0 No comment
    CTSK 99.73 0 No comment
    CTTNBP2 99.25 0 No comment
    CTU2 98.59 0 No comment
    CUL3 98.83 0 No comment
    CUL4B 92.06 0 No comment
    CUL7 99.50 0 No comment
    CUX1 96.61 0 No comment
    CUX2 98.80 0 No comment
    CWC27 97.65 0 No comment
    CWF19L1 98.83 0 No comment
    CFAP47 93.78 0 No comment
    STEEP1 92.87 0 No comment
    CXorf58 94.93 0 No comment
    CYB5R3 97.94 0 No comment
    CYC1 91.11 0 No comment
    CYFIP2 98.67 0 No comment
    CYP1B1 99.46 0 No comment
    CYP27A1 99.02 0 No comment
    CYP2U1 96.42 0 No comment
    CYP7B1 97.88 0 No comment
    D2HGDH 99.43 0 No comment
    DAB1 98.49 0 No comment
    DACT1 97.23 0 No comment
    DAG1 99.84 0 No comment
    DARS1 97.83 0 No comment
    DARS2 98.51 0 No comment
    DBT 98.43 0 No comment
    DCAF17 98.20 0 No comment
    DCC 99.25 0 No comment
    DCHS1 99.42 0 No comment
    DCHS2 96.72 0 No comment
    DCPS 99.51 0 No comment
    DCTN1 99.19 0 No comment
    DCX 97.69 0 No comment
    DDB2 99.44 0 No comment
    DDC 98.92 0 No comment
    DDHD1 98.96 0 No comment
    DDHD2 97.51 0 No comment
    DDOST 99.21 0 No comment
    DDR2 98.02 0 No comment
    INTS6L 94.69 0 No comment
    DDX3X 94.86 0 No comment
    DDX53 99.21 0 No comment
    RIGI 98.54 0 No comment
    DDX59 98.74 0 No comment
    DDX6 99.28 0 No comment
    DEAF1 94.52 0 No comment
    DECR1 98.30 0 No comment
    DEGS1 98.48 0 No comment
    DENND5A 98.76 0 No comment
    DEPDC5 98.88 0 No comment
    DGKH 97.01 0 No comment
    DHCR24 99.02 0 No comment
    DHCR7 99.47 0 No comment
    DHDDS 97.02 0 No comment
    DHFR 96.94 0 No comment
    DHODH 99.05 0 No comment
    DHPS 98.61 0 No comment
    DHRSX 91.20 0 No comment
    DHTKD1 98.94 0 No comment
    DHX30 98.83 0 No comment
    DIAPH1 91.23 0 No comment
    DIAPH2 87.29 0 No comment
    DIP2B 98.90 0 No comment
    DIS3L2 98.91 0 No comment
    DKC1 93.86 0 No comment
    DLAT 98.39 0 No comment
    DLD 98.88 0 No comment
    DLG1 98.14 0 No comment
    DLG2 99.29 0 No comment
    DLG3 97.25 0 No comment
    DLG4 99.13 0 No comment
    DLGAP2 99.74 0 No comment
    DLL3 86.64 0 No comment
    DLL4 99.36 0 No comment
    DMD 96.45 0 No comment
    DMP1 99.65 0 No comment
    DMPK 99.32 0 No comment
    DMXL2 98.36 0 No comment
    DNA2 98.22 0 No comment
    DNAAF3 98.65 0 No comment
    DNAJC12 99.66 0 No comment
    DNAJC19 96.91 0 No comment
    DNAJC3 96.14 0 No comment
    DNM1 97.82 0 No comment
    DNM1L 98.63 0 No comment
    DNM2 98.34 0 No comment
    DNMT1 98.21 0 No comment
    DNMT3A 99.20 0 No comment
    DNMT3B 99.29 0 No comment
    DOCK11 92.03 0 No comment
    DOCK3 98.52 0 No comment
    DOCK6 99.05 0 No comment
    DOCK7 98.51 0 No comment
    DOCK8 99.20 0 No comment
    DOLK 99.80 0 No comment
    DONSON 96.21 0 No comment
    DPAGT1 99.38 0 No comment
    DPF1 98.48 0 No comment
    DPF2 99.34 0 No comment
    DPF3 99.50 0 No comment
    DPH1 99.38 0 No comment
    DPM1 99.42 0 No comment
    DPM2 99.20 0 No comment
    DPM3 99.69 0 No comment
    DPP6 92.06 0 No comment
    DPYD 99.12 0 No comment
    DRD2 99.36 0 No comment
    DSCAM 98.89 0 No comment
    VPS26C 99.43 0 No comment
    DSPP 98.82 0 No comment
    DST 98.99 0 No comment
    DSTYK 99.35 0 No comment
    DVL1 99.68 0 No comment
    DVL3 98.80 0 No comment
    DYM 97.55 0 No comment
    DYNC1H1 99.37 0 No comment
    DYNC1I2 98.87 0 No comment
    DYNC2H1 97.67 0 No comment
    DYRK1A 99.47 0 No comment
    DNAAF4 98.09 0 No comment
    EBF3 99.40 0 No comment
    EBP 98.55 0 No comment
    ECEL1 97.04 0 No comment
    EDA 97.49 0 No comment
    EDNRA 99.24 0 No comment
    EDNRB 98.60 0 No comment
    EED 97.73 0 No comment
    EEF1A2 92.77 0 No comment
    EEF1B2 97.60 0 No comment
    EFHC1 98.17 0 No comment
    EFNB1 98.53 0 No comment
    EFTUD2 98.05 0 No comment
    EGR2 99.61 0 No comment
    EHMT1 98.17 0 No comment
    EIF2A 97.83 0 No comment
    EIF2AK1 98.91 0 No comment
    EIF2AK3 97.90 0 No comment
    EIF2S3 97.86 0 No comment
    EIF3F 99.59 0 No comment
    EIF4A3 99.56 0 No comment
    EIF4G1 99.24 0 No comment
    ELAC2 99.51 0 No comment
    ELK1 98.30 0 No comment
    ELN 99.54 0 No comment
    ELOVL4 99.51 0 No comment
    ELOVL5 98.85 0 No comment
    ELP2 99.00 0 No comment
    EMC1 99.43 0 No comment
    EMG1 99.17 0 No comment
    EML1 98.84 0 No comment
    EMX2 99.75 0 No comment
    EN2 95.92 0 No comment
    ENOX2 95.88 0 No comment
    ENPP1 95.08 0 No comment
    TEPSIN 99.67 0 No comment
    ENTPD1 97.83 0 No comment
    EOGT 90.07 0 No comment
    EOMES 99.11 0 No comment
    EP300 99.21 0 No comment
    EPB41L1 99.19 0 No comment
    EPG5 98.98 0 No comment
    EPM2A 91.75 0 No comment
    EPPK1 99.37 0 No comment
    SELENOI 98.64 0 No comment
    ERCC1 97.35 0 No comment
    ERCC2 98.26 0 No comment
    ERCC3 99.57 0 No comment
    ERCC4 99.08 0 No comment
    ERCC5 99.17 0 No comment
    ERCC6 99.25 0 No comment
    ERCC6L2 98.36 0 No comment
    ERCC8 99.23 0 No comment
    ERF 99.27 0 No comment
    ERLIN2 99.21 0 No comment
    ERMARD 99.76 0 No comment
    ESCO2 97.40 0 No comment
    ESX1 96.03 0 No comment
    ETFA 97.87 0 No comment
    ETFB 99.51 0 No comment
    ETFDH 97.92 0 No comment
    ETHE1 98.75 0 No comment
    EVC 94.14 0 No comment
    EVC2 97.83 0 No comment
    EXOSC3 98.97 0 No comment
    EXOSC8 98.32 0 No comment
    EXT1 99.14 0 No comment
    EXT2 99.43 0 No comment
    EXTL3 99.80 0 No comment
    EYA1 99.11 0 No comment
    EZH2 96.67 0 No comment
    F5 99.15 0 No comment
    FA2H 97.25 0 No comment
    FAAH2 92.70 0 No comment
    FAH 96.88 0 No comment
    OTULIN 89.08 0 No comment
    FAM111A 99.59 0 No comment
    FAM111B 99.76 0 No comment
    FAM120C 96.47 0 No comment
    HYCC1 99.23 0 No comment
    RETREG1 97.37 0 No comment
    FHIP2A 97.70 0 No comment
    FAM161A 99.42 0 No comment
    FAM20A 94.00 0 No comment
    FAM20C 96.33 0 No comment
    FAM47B 99.81 0 No comment
    CCNQ 84.67 0 No comment
    FANCA 98.47 0 No comment
    FANCB 97.15 0 No comment
    FANCC 99.30 0 No comment
    FANCD2 99.02 0 No comment
    FANCE 95.74 0 No comment
    FANCF 99.29 0 No comment
    FANCG 98.43 0 No comment
    FANCI 98.29 0 No comment
    FAR1 97.96 0 No comment
    FARS2 99.13 0 No comment
    FASN 99.66 0 No comment
    FAT4 99.73 0 No comment
    FBLN5 97.72 0 No comment
    FBN1 99.18 0 No comment
    FBN2 99.13 0 No comment
    FBP1 99.54 0 No comment
    FBXL3 98.89 0 No comment
    FBXL4 99.22 0 No comment
    FBXO11 98.18 0 No comment
    FBXO25 98.32 0 No comment
    FBXO7 99.44 0 No comment
    FBXO8 99.00 0 No comment
    FBXW11 98.85 0 No comment
    FBXW4 98.88 0 No comment
    FDFT1 96.29 0 No comment
    FDXR 99.16 0 No comment
    FEM1B 98.39 0 No comment
    FGD1 95.65 0 No comment
    FGD4 97.87 0 No comment
    FGF10 98.79 0 No comment
    FGF12 99.23 0 No comment
    FGF14 99.47 0 No comment
    FGF3 95.52 0 No comment
    FGFR1 99.06 0 No comment
    FGFR2 99.55 0 No comment
    FGFR3 98.01 0 No comment
    FH 98.88 0 No comment
    FHL1 98.74 0 No comment
    FIBP 99.40 0 No comment
    FIG4 98.99 0 No comment
    FKBP14 98.92 0 No comment
    FKBP6 99.52 0 No comment
    FKBPL 99.97 0 No comment
    FKRP 97.44 0 No comment
    FKTN 98.78 0 No comment
    FLAD1 99.48 0 No comment
    FLNA 98.47 0 No comment
    FLNB 98.87 0 No comment
    FLT4 98.94 0 No comment
    FLVCR1 98.36 0 No comment
    FLVCR2 99.65 0 No comment
    FMN2 96.08 0 No comment
    FMR1 96.13 0 No comment
    FOLR1 99.56 0 No comment
    FOXC1 91.49 0 No comment
    FOXC2 93.24 0 No comment
    FOXE1 88.43 0 No comment
    FOXE3 70.11 0 No comment
    FOXF1 98.60 0 No comment
    FOXG1 78.93 0 No comment
    FOXN1 99.64 0 No comment
    FOXP1 98.65 0 No comment
    FOXP2 98.84 0 No comment
    FOXP3 95.40 0 No comment
    FOXRED1 98.46 0 No comment
    FRAS1 98.89 0 No comment
    FREM1 99.07 0 No comment
    FREM2 99.25 0 No comment
    FRMD7 97.20 0 No comment
    FRMPD4 97.55 0 No comment
    FRRS1L 82.94 0 No comment
    FRY 99.11 0 No comment
    FTCD 98.94 0 No comment
    FTL 97.48 0 No comment
    FTO 99.41 0 No comment
    FTSJ1 98.72 0 No comment
    FUCA1 98.66 0 No comment
    FCSK 99.13 0 No comment
    FUT8 98.58 0 No comment
    FXN 96.73 0 No comment
    FYCO1 99.38 0 No comment
    FZD3 99.31 0 No comment
    FZD6 99.22 0 No comment
    G6PC3 99.48 0 No comment
    GAA 99.39 0 No comment
    GAB3 94.68 0 No comment
    GABBR2 96.86 0 No comment
    GABRA1 99.65 0 No comment
    GABRA2 99.34 0 No comment
    GABRA5 99.43 0 No comment
    GABRB2 98.99 0 No comment
    GABRB3 99.65 0 No comment
    GABRG2 91.85 0 No comment
    GABRG3 99.67 0 No comment
    GABRQ 96.87 0 No comment
    GAD1 99.31 0 No comment
    GALC 98.53 0 No comment
    GALE 98.79 0 No comment
    GALK1 99.12 0 No comment
    GALNS 98.20 0 No comment
    GALNT2 99.25 0 No comment
    GALT 99.67 0 No comment
    GAMT 98.08 0 No comment
    GAN 98.97 0 No comment
    GAS8 98.96 0 No comment
    GATA2 99.39 0 No comment
    GATA4 94.57 0 No comment
    GATA6 90.43 0 No comment
    GATAD2B 99.84 0 No comment
    GATM 99.31 0 No comment
    GBA1 99.80 0 No comment
    GBA2 99.40 0 No comment
    GBE1 98.14 0 No comment
    GCDH 99.26 0 No comment
    GCH1 98.31 0 No comment
    GCK 99.00 0 No comment
    GCSH 98.69 0 No comment
    GDAP1 99.61 0 No comment
    GDF5 98.79 0 No comment
    GDF6 95.02 0 No comment
    GDI1 96.43 0 No comment
    GEMIN4 99.84 0 No comment
    GFAP 99.47 0 No comment
    GFER 96.28 0 No comment
    GFM1 98.59 0 No comment
    GHR 98.44 0 No comment
    GIGYF2 98.79 0 No comment
    GJA1 99.86 0 No comment
    GJA3 98.78 0 No comment
    GJA8 99.16 0 No comment
    GJB1 99.27 0 No comment
    GJB2 99.76 0 No comment
    GJB3 99.85 0 No comment
    GJC2 86.86 0 No comment
    GK 95.46 0 No comment
    GLB1 99.09 0 No comment
    GLDC 98.46 0 No comment
    GLE1 99.11 0 No comment
    GLI2 98.54 0 No comment
    GLI3 99.24 0 No comment
    GLIS3 99.02 0 No comment
    GLMN 98.58 0 No comment
    GLRA1 98.32 0 No comment
    GLRA2 91.37 0 No comment
    GLUD1 97.56 0 No comment
    GLUL 99.52 0 No comment
    GLYCTK 99.68 0 No comment
    GM2A 99.64 0 No comment
    GMNN 96.21 0 No comment
    GMPPA 99.75 0 No comment
    GMPPB 98.26 0 No comment
    GNAI1 98.99 0 No comment
    GNAI2 98.07 0 No comment
    GNAI3 97.86 0 No comment
    GNAL 97.43 0 No comment
    GNAO1 98.80 0 No comment
    GNAS 99.61 0 No comment
    GNB1 98.37 0 No comment
    GNB5 99.14 0 No comment
    GNE 99.40 0 No comment
    GNPAT 96.78 0 No comment
    GNPTAB 99.40 0 No comment
    GNPTG 97.82 0 No comment
    GNS 99.15 0 No comment
    GON4L 99.53 0 No comment
    GORAB 98.74 0 No comment
    GOSR2 99.40 0 No comment
    GOT2 99.15 0 No comment
    GPAA1 99.20 0 No comment
    GPC3 95.93 0 No comment
    GPC4 97.39 0 No comment
    GPHN 99.23 0 No comment
    ADGRG4 98.24 0 No comment
    ADGRG6 98.33 0 No comment
    GPR179 99.76 0 No comment
    ADGRG1 99.61 0 No comment
    ADGRV1 98.49 0 No comment
    GPRASP1 99.60 0 No comment
    GPSM2 98.63 0 No comment
    GPT2 95.94 0 No comment
    GRB14 97.87 0 No comment
    GRHL3 98.78 0 No comment
    GRIA1 98.02 0 No comment
    GRIA2 98.58 0 No comment
    GRIA3 92.43 0 No comment
    GRIA4 98.61 0 No comment
    GRID2 99.29 0 No comment
    GRIK2 99.11 0 No comment
    GRIN1 99.26 0 No comment
    GRIN2A 99.71 0 No comment
    GRIN2B 99.64 0 No comment
    GRIN2D 78.36 0 No comment
    GRIP1 99.51 0 No comment
    GRM1 98.88 0 No comment
    GRM6 93.42 0 No comment
    GRN 99.81 0 No comment
    GSPT2 99.68 0 No comment
    GSS 99.18 0 No comment
    GSX2 99.55 0 No comment
    GTF2E2 98.84 0 No comment
    GTF2H5 98.97 0 No comment
    GTF3C3 98.70 0 No comment
    GTPBP2 98.27 0 No comment
    GTPBP3 98.65 0 No comment
    GTPBP8 98.83 0 No comment
    GUCY2C 99.16 0 No comment
    GUSB 98.83 0 No comment
    GYS2 99.38 0 No comment
    H3-3A 99.28 0 No comment
    H3-3B 99.69 0 No comment
    HACE1 98.93 0 No comment
    HADH 98.21 0 No comment
    HADHA 99.44 0 No comment
    HADHB 99.06 0 No comment
    HARS2 97.76 0 No comment
    HAUS7 95.60 0 No comment
    HAX1 99.52 0 No comment
    HCCS 97.34 0 No comment
    HCFC1 97.80 0 No comment
    HCN1 98.04 0 No comment
    HDAC4 99.39 0 No comment
    HDAC6 97.59 0 No comment
    HDAC8 97.78 0 No comment
    PUDP 97.74 0 No comment
    HECW2 98.89 0 No comment
    HEPACAM 98.19 0 No comment
    HERC1 99.17 0 No comment
    HERC2 99.81 0 No comment
    HESX1 99.33 0 No comment
    HEXA 99.52 0 No comment
    HEXB 98.68 0 No comment
    HGSNAT 93.69 0 No comment
    HIBCH 99.31 0 No comment
    HINT1 99.52 0 No comment
    H1-4 98.83 0 No comment
    H4C2 99.68 0 No comment
    H4C3 99.67 0 No comment
    H4C11 99.75 0 No comment
    H3-4 99.95 0 No comment
    HIVEP2 99.83 0 No comment
    HK1 99.43 0 No comment
    HLCS 95.35 0 No comment
    HMGB3 95.15 0 No comment
    HMGCL 99.25 0 No comment
    HMGCS2 98.52 0 No comment
    HNF1B 99.68 0 No comment
    HNF4A 99.42 0 No comment
    HNMT 99.40 0 No comment
    HNRNPH2 98.98 0 No comment
    HNRNPK 99.14 0 No comment
    HNRNPR 99.29 0 No comment
    HNRNPU 99.13 0 No comment
    HOXA1 99.10 0 No comment
    HOXA13 75.31 0 No comment
    HOXC13 98.67 0 No comment
    HOXD10 99.56 0 No comment
    HOXD13 96.00 0 No comment
    HPD 99.12 0 No comment
    HPGD 98.68 0 No comment
    HPRT1 91.01 0 No comment
    HPS1 98.99 0 No comment
    HPSE2 99.23 0 No comment
    HR 98.73 0 No comment
    HRAS 99.96 0 No comment
    HS6ST2 98.48 0 No comment
    HSD17B10 99.12 0 No comment
    HSD17B4 98.53 0 No comment
    HSD3B7 93.20 0 No comment
    HSF4 98.76 0 No comment
    HSPD1 99.48 0 No comment
    HSPG2 99.24 0 No comment
    HTRA2 98.32 0 No comment
    HTT 98.29 0 No comment
    HUWE1 96.58 0 No comment
    HYAL1 99.27 0 No comment
    HYDIN 98.89 0 No comment
    HYLS1 99.56 0 No comment
    IARS1 98.84 0 No comment
    IARS2 98.71 0 No comment
    IBA57 96.07 0 No comment
    IDH2 94.56 0 No comment
    IDS 97.02 0 No comment
    IDUA 94.91 0 No comment
    IER3IP1 98.58 0 No comment
    IFIH1 98.73 0 No comment
    IFITM5 99.18 0 No comment
    IFNAR2 99.17 0 No comment
    IFT122 98.98 0 No comment
    IFT140 99.19 0 No comment
    IFT172 99.43 0 No comment
    IFT27 99.45 0 No comment
    IFT43 99.37 0 No comment
    IFT80 98.80 0 No comment
    IGBP1 98.38 0 No comment
    IGF1 98.50 0 No comment
    IGF1R 99.32 0 No comment
    IGF2 98.94 0 No comment
    IGHMBP2 99.36 0 No comment
    IGSF1 95.84 0 No comment
    IHH 98.73 0 No comment
    IKBKG 96.16 0 No comment
    IL11RA 99.17 0 No comment
    IL1RAPL1 97.07 0 No comment
    IL1RAPL2 97.20 0 No comment
    IL3RA 99.85 0 No comment
    ILF2 99.02 0 No comment
    BPNT2 99.21 0 No comment
    INF2 94.80 0 No comment
    INPP4A 99.16 0 No comment
    INPP5E 98.98 0 No comment
    INPP5K 99.11 0 No comment
    INPPL1 98.07 0 No comment
    INSR 96.93 0 No comment
    INTS1 99.07 0 No comment
    INTS6 98.76 0 No comment
    INTS8 97.79 0 No comment
    IQSEC1 96.84 0 No comment
    IQSEC2 88.71 0 No comment
    IQSEC3 99.28 0 No comment
    IRAK1 94.66 0 No comment
    IRF2BPL 97.48 0 No comment
    IRF6 98.80 0 No comment
    IRX5 98.01 0 No comment
    ISCA2 99.85 0 No comment
    CRPPA 86.74 0 No comment
    ITCH 94.90 0 No comment
    ITGA3 99.19 0 No comment
    ITGA4 96.65 0 No comment
    ITGA7 99.02 0 No comment
    ITGB6 99.17 0 No comment
    ITIH6 96.21 0 No comment
    ITPA 99.87 0 No comment
    ITPR1 98.49 0 No comment
    IVD 99.26 0 No comment
    JAG1 99.05 0 No comment
    JAGN1 99.34 0 No comment
    JAK3 98.80 0 No comment
    JAM3 98.99 0 No comment
    KANK1 98.55 0 No comment
    KANSL1 99.38 0 No comment
    KARS1 99.19 0 No comment
    KAT5 99.33 0 No comment
    KAT6A 99.45 0 No comment
    KAT6B 99.14 0 No comment
    KAT8 96.84 0 No comment
    KATNAL2 99.21 0 No comment
    KATNB1 99.24 0 No comment
    KBTBD13 98.92 0 No comment
    KCNA1 99.84 0 No comment
    KCNA2 99.87 0 No comment
    KCNB1 99.55 0 No comment
    KCNC1 99.57 0 No comment
    KCNC3 79.69 0 No comment
    KCND1 97.45 0 No comment
    KCND3 99.47 0 No comment
    KCNE1 99.99 0 No comment
    KCNH1 99.06 0 No comment
    KCNH5 98.52 0 No comment
    KCNJ10 99.06 0 No comment
    KCNJ11 99.50 0 No comment
    KCNJ6 99.58 0 No comment
    KCNK12 94.89 0 No comment
    KCNK4 98.87 0 No comment
    KCNK9 99.78 0 No comment
    KCNMA1 98.89 0 No comment
    KCNN3 99.58 0 No comment
    KCNQ1 94.82 0 No comment
    KCNQ2 98.91 0 No comment
    KCNQ3 97.63 0 No comment
    KCNQ5 98.24 0 No comment
    KCNT1 98.83 0 No comment
    KCNT2 98.81 0 No comment
    KCTD1 99.70 0 No comment
    KCTD3 99.34 0 No comment
    KCTD7 98.45 0 No comment
    KDM1A 97.93 0 No comment
    KDM3B 98.22 0 No comment
    KDM5A 99.06 0 No comment
    KDM5B 98.98 0 No comment
    KDM5C 98.12 0 No comment
    KDM6A 95.37 0 No comment
    KDM6B 97.67 0 No comment
    TMEM94 99.37 0 No comment
    WASHC5 98.20 0 No comment
    RUBCN 99.10 0 No comment
    KIAA0586 93.75 0 No comment
    KIAA1109 98.44 0 No comment
    KIFBP 99.27 0 No comment
    RIC1 99.07 0 No comment
    LNPK 99.07 0 No comment
    NEXMIF 99.59 0 No comment
    KIDINS220 99.40 0 No comment
    KIF11 98.60 0 No comment
    KIF14 98.97 0 No comment
    KIF1A 99.09 0 No comment
    KIF1C 99.18 0 No comment
    KIF21A 98.56 0 No comment
    KIF22 98.71 0 No comment
    KIF26B 99.62 0 No comment
    KIF2A 98.32 0 No comment
    KIF4A 96.82 0 No comment
    KIF5A 97.77 0 No comment
    KIF5C 96.11 0 No comment
    KIF7 96.34 0 No comment
    KIRREL3 98.99 0 No comment
    KIT 99.30 0 No comment
    KLF1 99.27 0 No comment
    KLF7 99.57 0 No comment
    KLF8 96.17 0 No comment
    KLHL15 99.48 0 No comment
    KLHL21 97.63 0 No comment
    KLHL34 97.50 0 No comment
    KLHL4 96.56 0 No comment
    KLHL40 99.52 0 No comment
    KLHL7 99.04 0 No comment
    KMT2A 98.08 0 No comment
    KMT2B 96.01 0 No comment
    KMT2C 99.21 0 No comment
    KMT2D 99.70 0 No comment
    KMT2E 98.57 0 No comment
    KPTN 98.80 0 No comment
    KRAS 97.27 0 No comment
    KRIT1 98.55 0 No comment
    L1CAM 97.47 0 No comment
    L2HGDH 98.33 0 No comment
    LAMA1 99.36 0 No comment
    LAMA2 99.11 0 No comment
    LAMB1 99.38 0 No comment
    LAMB2 99.40 0 No comment
    LAMC3 97.47 0 No comment
    LAMP2 95.99 0 No comment
    LARGE1 99.44 0 No comment
    LARP7 97.05 0 No comment
    LARS2 99.25 0 No comment
    LAS1L 98.38 0 No comment
    LBR 99.13 0 No comment
    LDB3 95.69 0 No comment
    LEMD3 98.30 0 No comment
    P3H1 99.32 0 No comment
    LFNG 80.45 0 No comment
    LGI1 99.81 0 No comment
    LGI4 99.14 0 No comment
    LHFPL3 95.05 0 No comment
    LHX3 99.03 0 No comment
    LHX4 99.11 0 No comment
    LIAS 98.84 0 No comment
    LIG4 99.71 0 No comment
    LIMK1 99.08 0 No comment
    LINGO1 99.68 0 No comment
    LINS1 98.96 0 No comment
    LIPT1 98.07 0 No comment
    LIPT2 97.11 0 No comment
    LITAF 99.34 0 No comment
    LMAN2L 99.15 0 No comment
    LMBRD1 96.71 0 No comment
    LMNA 98.89 0 No comment
    LMX1B 99.74 0 No comment
    LONP1 99.06 0 No comment
    LOXHD1 99.14 0 No comment
    LRAT 99.56 0 No comment
    LRP1 98.97 0 No comment
    LRP2 99.08 0 No comment
    LRP4 98.69 0 No comment
    LRP5 97.97 0 No comment
    LRPPRC 98.65 0 No comment
    LRRC32 99.45 0 No comment
    DNAAF11 99.52 0 No comment
    LRRK1 99.22 0 No comment
    LRRK2 98.24 0 No comment
    LSS 99.87 0 No comment
    LTBP2 98.85 0 No comment
    LTBP3 98.16 0 No comment
    LYRM7 95.36 0 No comment
    LYST 98.97 0 No comment
    LZTFL1 98.88 0 No comment
    LZTR1 99.05 0 No comment
    MAB21L1 99.89 0 No comment
    MAB21L2 99.46 0 No comment
    MACC1 99.56 0 No comment
    MACF1 98.64 0 No comment
    MADD 98.87 0 No comment
    MAF 78.51 0 No comment
    MAFB 99.20 0 No comment
    MAGEA11 99.42 0 No comment
    MAGEB1 99.65 0 No comment
    MAGEB10 99.72 0 No comment
    MAGEB2 99.51 0 No comment
    MAGEC1 98.27 0 No comment
    MAGEC3 96.41 0 No comment
    MAGED1 97.72 0 No comment
    MAGEL2 99.77 0 No comment
    MAGI2 92.15 0 No comment
    MAGIX 91.35 0 No comment
    MAGT1 95.72 0 No comment
    MAN1B1 97.68 0 No comment
    MAN2B1 98.69 0 No comment
    MANBA 98.99 0 No comment
    MAOA 92.59 0 No comment
    MAOB 96.46 0 No comment
    MAP1B 99.62 0 No comment
    MAP2K1 98.93 0 No comment
    MAP2K2 99.30 0 No comment
    MAP3K1 93.46 0 No comment
    MAP3K15 81.00 0 No comment
    MAP3K7 98.96 0 No comment
    MAP7D3 93.50 0 No comment
    MAPK10 99.23 0 No comment
    MAPK8IP3 99.17 0 No comment
    MAPRE2 99.34 0 No comment
    MAPT 99.44 0 No comment
    MASP1 99.32 0 No comment
    MAST1 98.94 0 No comment
    MAT1A 99.31 0 No comment
    MATN3 94.73 0 No comment
    MBD5 99.80 0 No comment
    MBNL3 97.64 0 No comment
    MBOAT7 99.23 0 No comment
    MBTPS2 97.35 0 No comment
    MC2R 99.83 0 No comment
    MCCC1 99.36 0 No comment
    MCCC2 99.42 0 No comment
    MCEE 99.73 0 No comment
    MCM3AP 99.17 0 No comment
    MCM9 99.49 0 No comment
    MCOLN1 98.09 0 No comment
    MCPH1 97.71 0 No comment
    MDH2 99.26 0 No comment
    MECP2 89.64 0 No comment
    MECR 98.83 0 No comment
    MED12 97.94 0 No comment
    MED12L 98.99 0 No comment
    MED13 98.50 0 No comment
    MED13L 99.39 0 No comment
    MED17 98.61 0 No comment
    MED23 98.85 0 No comment
    MED25 97.95 0 No comment
    MEF2C 99.19 0 No comment
    MEGF10 98.25 0 No comment
    MEGF8 99.01 0 No comment
    MEIS2 99.60 0 No comment
    MESP2 98.01 0 No comment
    MET 99.32 0 No comment
    METTL23 99.70 0 No comment
    METTL5 94.29 0 No comment
    MFF 98.90 0 No comment
    MFRP 98.32 0 No comment
    MFSD2A 98.61 0 No comment
    MFSD8 99.49 0 No comment
    MGAT2 99.31 0 No comment
    MGAT5B 98.30 0 No comment
    MGP 99.47 0 No comment
    MIB1 98.13 0 No comment
    MICU1 99.39 0 No comment
    MID1 98.26 0 No comment
    MITF 99.17 0 No comment
    MKKS 99.47 0 No comment
    MKS1 98.74 0 No comment
    MLC1 98.91 0 No comment
    MLH1 98.70 0 No comment
    MLYCD 94.43 0 No comment
    MMAA 98.59 0 No comment
    MMAB 99.44 0 No comment
    MMACHC 99.23 0 No comment
    MMADHC 98.97 0 No comment
    MMP13 98.47 0 No comment
    MMP21 97.96 0 No comment
    MN1 99.12 0 No comment
    MNX1 68.62 0 No comment
    MOCS1 99.12 0 No comment
    MOCS2 99.33 0 No comment
    MOGS 98.80 0 No comment
    MORC4 92.98 0 No comment
    MPDU1 97.72 0 No comment
    MPDZ 99.06 0 No comment
    MPI 99.09 0 No comment
    MPLKIP 99.41 0 No comment
    MPV17 99.32 0 No comment
    MPZ 99.26 0 No comment
    MRAP 99.40 0 No comment
    MRE11 98.82 0 No comment
    MRPS22 99.08 0 No comment
    MRPS34 97.34 0 No comment
    MSL3 95.17 0 No comment
    MSMO1 98.59 0 No comment
    MSX1 98.22 0 No comment
    MSX2 99.75 0 No comment
    MTF1 98.69 0 No comment
    MTFMT 98.17 0 No comment
    MTHFR 97.78 0 No comment
    MTM1 96.15 0 No comment
    MTMR1 88.31 0 No comment
    MTMR14 99.36 0 No comment
    MTMR2 98.85 0 No comment
    MTMR8 95.90 0 No comment
    MTO1 93.67 0 No comment
    MTOR 98.53 0 No comment
    MTPAP 98.83 0 No comment
    MTR 99.25 0 No comment
    MTRR 99.33 0 No comment
    MTTP 99.03 0 No comment
    MMUT 98.64 0 No comment
    MVK 99.52 0 No comment
    MXRA5 98.86 0 No comment
    MYBPC1 98.08 0 No comment
    MYCN 90.97 0 No comment
    MYH10 99.14 0 No comment
    MYH3 99.61 0 No comment
    MYH6 99.58 0 No comment
    MYH8 99.84 0 No comment
    MYH9 99.50 0 No comment
    MYO1D 99.24 0 No comment
    MYO1G 98.28 0 No comment
    MYO5A 98.89 0 No comment
    MYO5B 98.83 0 No comment
    MYO7A 99.30 0 No comment
    MYT1L 99.61 0 No comment
    NAA10 97.29 0 No comment
    NAA15 96.88 0 No comment
    NACC1 99.36 0 No comment
    NADK2 90.73 0 No comment
    NAGA 99.05 0 No comment
    NAGLU 92.35 0 No comment
    NAGS 99.13 0 No comment
    NALCN 99.30 0 No comment
    NANS 99.57 0 No comment
    NBAS 99.15 0 No comment
    NBEA 98.46 0 No comment
    NBN 98.71 0 No comment
    NCAPD2 99.26 0 No comment
    NCAPG2 98.85 0 No comment
    NCAPH 96.78 0 No comment
    NCKAP1 98.92 0 No comment
    NDE1 99.73 0 No comment
    NDN 97.93 0 No comment
    NDP 98.16 0 No comment
    NDRG1 99.86 0 No comment
    NDST1 99.02 0 No comment
    NDUFA1 98.51 0 No comment
    NDUFA10 99.01 0 No comment
    NDUFA11 90.58 0 No comment
    NDUFA12 99.80 0 No comment
    NDUFA9 98.99 0 No comment
    NDUFAF1 99.39 0 No comment
    NDUFAF2 98.80 0 No comment
    NDUFAF3 99.67 0 No comment
    NDUFAF5 99.09 0 No comment
    NDUFS1 98.99 0 No comment
    NDUFS2 97.41 0 No comment
    NDUFS3 99.78 0 No comment
    NDUFS4 97.48 0 No comment
    NDUFS7 99.69 0 No comment
    NDUFS8 98.57 0 No comment
    NDUFV1 99.26 0 No comment
    NEB 99.00 0 No comment
    NECAB2 87.19 0 No comment
    NECAP1 99.07 0 No comment
    NEDD4L 98.42 0 No comment
    NEK1 98.94 0 No comment
    NEU1 99.97 0 No comment
    NF1 98.44 0 No comment
    NFASC 98.10 0 No comment
    NFIA 97.99 0 No comment
    NFIB 98.14 0 No comment
    NFIX 97.92 0 No comment
    NFU1 99.67 0 No comment
    NGF 98.59 0 No comment
    NGLY1 99.36 0 No comment
    NHEJ1 99.58 0 No comment
    NHLRC1 99.86 0 No comment
    NHP2 99.45 0 No comment
    NHS 96.49 0 No comment
    NIPA1 90.55 0 No comment
    NIPBL 98.60 0 No comment
    NKAP 96.73 0 No comment
    NKX2-1 97.75 0 No comment
    NKX2-5 99.63 0 No comment
    NKX3-2 98.37 0 No comment
    NLGN3 98.40 0 No comment
    NLGN4X 99.13 0 No comment
    NLRP3 98.99 0 No comment
    NMNAT1 97.99 0 No comment
    NODAL 99.40 0 No comment
    NOG 99.12 0 No comment
    NONO 96.77 0 No comment
    NOP56 99.35 0 No comment
    NOTCH2 99.27 0 No comment
    NOVA2 89.97 0 No comment
    NPC1 98.89 0 No comment
    NPC2 99.66 0 No comment
    NPHP1 99.51 0 No comment
    NPHP3 98.74 0 No comment
    NPHP4 99.19 0 No comment
    NPHS1 99.44 0 No comment
    NPHS2 97.80 0 No comment
    NPR2 99.34 0 No comment
    NPR3 90.56 0 No comment
    NR1I3 99.14 0 No comment
    NR2F1 90.07 0 No comment
    NR2F2 98.87 0 No comment
    NR4A2 99.44 0 No comment
    NR5A1 97.66 0 No comment
    NRAS 98.92 0 No comment
    NRK 96.60 0 No comment
    NRROS 99.89 0 No comment
    NRXN1 99.17 0 No comment
    NRXN2 95.11 0 No comment
    NRXN3 99.23 0 No comment
    NSD1 98.92 0 No comment
    NSDHL 98.64 0 No comment
    NSF 98.09 0 No comment
    NSUN2 98.86 0 No comment
    NT5C2 98.94 0 No comment
    NT5C3A 98.92 0 No comment
    NTM 98.61 0 No comment
    NTNG1 99.58 0 No comment
    NTNG2 93.49 0 No comment
    NTRK1 98.79 0 No comment
    NTRK2 99.23 0 No comment
    NUBPL 99.17 0 No comment
    NUDT2 99.10 0 No comment
    NUP107 97.33 0 No comment
    NUP188 98.99 0 No comment
    NUP62 99.65 0 No comment
    NUS1 97.85 0 No comment
    NXF5 99.08 0 No comment
    NYX 92.34 0 No comment
    OBSL1 98.23 0 No comment
    OCLN 99.53 0 No comment
    OCRL 95.55 0 No comment
    ODC1 99.36 0 No comment
    ODF2L 97.74 0 No comment
    OFD1 93.09 0 No comment
    OGT 96.02 0 No comment
    OPA3 99.11 0 No comment
    OPHN1 93.40 0 No comment
    OR5M1 99.56 0 No comment
    ORC1 98.75 0 No comment
    ORC4 98.23 0 No comment
    ORC6 98.12 0 No comment
    OSGEP 99.20 0 No comment
    OTC 94.39 0 No comment
    OTOGL 91.23 0 No comment
    OTUD6B 97.21 0 No comment
    OTUD7A 84.64 0 No comment
    OTX2 99.74 0 No comment
    OXCT1 98.14 0 No comment
    P2RY4 99.46 0 No comment
    P2RY8 99.54 0 No comment
    P4HB 99.48 0 No comment
    P4HTM 95.19 0 No comment
    PABPC5 99.77 0 No comment
    PACS1 97.81 0 No comment
    PACS2 97.16 0 No comment
    PAFAH1B1 99.12 0 No comment
    PAH 99.36 0 No comment
    PAK1 89.41 0 No comment
    PAK3 93.85 0 No comment
    PALB2 99.35 0 No comment
    PANK2 98.65 0 No comment
    PAPSS2 97.09 0 No comment
    PRKN 99.61 0 No comment
    PARK7 98.71 0 No comment
    PARN 99.92 0 No comment
    PARP1 99.23 0 No comment
    PASD1 96.99 0 No comment
    PAX2 98.63 0 No comment
    PAX3 99.47 0 No comment
    PAX6 99.12 0 No comment
    PAX7 98.68 0 No comment
    PAX8 99.37 0 No comment
    PAX9 99.60 0 No comment
    PBRM1 99.04 0 No comment
    PBX1 98.79 0 No comment
    PC 99.26 0 No comment
    PCBD1 98.19 0 No comment
    PCCA 99.09 0 No comment
    PCCB 98.35 0 No comment
    PCDH10 99.56 0 No comment
    PCDH12 99.87 0 No comment
    PCDH19 99.27 0 No comment
    PCGF2 89.24 0 No comment
    PCLO 99.20 0 No comment
    PCNT 98.96 0 No comment
    PCYT1A 99.37 0 No comment
    PCYT2 93.96 0 No comment
    PDCD10 97.57 0 No comment
    PDE10A 99.49 0 No comment
    PDE4D 97.01 0 No comment
    PDE6D 99.57 0 No comment
    PDE6G 99.28 0 No comment
    PDGFB 99.27 0 No comment
    PDGFRB 98.98 0 No comment
    PDHA1 93.13 0 No comment
    PDHX 97.66 0 No comment
    PDSS1 88.79 0 No comment
    PDSS2 98.91 0 No comment
    PDYN 97.60 0 No comment
    PECR 98.78 0 No comment
    PEPD 99.16 0 No comment
    PET100 99.52 0 No comment
    PEX1 98.65 0 No comment
    PEX10 94.24 0 No comment
    PEX11B 98.16 0 No comment
    PEX12 98.98 0 No comment
    PEX13 99.29 0 No comment
    PEX14 99.37 0 No comment
    PEX16 99.69 0 No comment
    PEX19 98.79 0 No comment
    PEX2 99.69 0 No comment
    PEX26 98.07 0 No comment
    PEX3 98.18 0 No comment
    PEX5 98.49 0 No comment
    PEX6 98.82 0 No comment
    PEX7 98.38 0 No comment
    PGAP1 97.38 0 No comment
    PGAP2 99.62 0 No comment
    PGAP3 97.87 0 No comment
    PGK1 98.42 0 No comment
    PGM1 98.11 0 No comment
    PGM3 99.56 0 No comment
    PGRMC1 98.26 0 No comment
    PHACTR1 89.43 0 No comment
    PHC1 99.13 0 No comment
    PHF10 95.41 0 No comment
    PHF21A 98.68 0 No comment
    PHF6 87.29 0 No comment
    PHF8 98.16 0 No comment
    PHGDH 99.24 0 No comment
    PHIP 98.39 0 No comment
    PHKA1 96.26 0 No comment
    PHKA2 95.35 0 No comment
    PHKG2 99.76 0 No comment
    PHOX2B 94.35 0 No comment
    PIEZO2 98.61 0 No comment
    PIGA 96.21 0 No comment
    PIGB 99.29 0 No comment
    PIGC 99.49 0 No comment
    PIGG 99.35 0 No comment
    PIGH 99.72 0 No comment
    PIGK 97.34 0 No comment
    PIGL 99.60 0 No comment
    PIGN 97.35 0 No comment
    PIGO 99.30 0 No comment
    PIGP 97.65 0 No comment
    PIGQ 99.47 0 No comment
    PIGS 99.30 0 No comment
    PIGT 99.18 0 No comment
    PIGU 96.64 0 No comment
    PIGV 99.64 0 No comment
    PIGW 99.86 0 No comment
    PIGY 98.77 0 No comment
    PIK3C2A 98.95 0 No comment
    PIK3C3 98.08 0 No comment
    PIK3CA 98.58 0 No comment
    PIK3R1 98.70 0 No comment
    PIK3R2 92.16 0 No comment
    PIN4 94.34 0 No comment
    PINK1 96.58 0 No comment
    PITRM1 99.18 0 No comment
    PITX2 98.79 0 No comment
    PITX3 99.21 0 No comment
    PJA1 99.79 0 No comment
    PKD1L1 99.32 0 No comment
    PKHD1 99.32 0 No comment
    PLA2G6 99.38 0 No comment
    PLAA 99.25 0 No comment
    PLCB1 98.83 0 No comment
    PLCE1 98.80 0 No comment
    PLCXD1 96.54 0 No comment
    PLEC 99.59 0 No comment
    PLEKHG2 99.01 0 No comment
    PLK4 98.64 0 No comment
    PLOD1 98.15 0 No comment
    PLOD2 98.29 0 No comment
    PLOD3 98.92 0 No comment
    PLP1 98.91 0 No comment
    PLXNB3 98.08 0 No comment
    PMM2 97.92 0 No comment
    PMP22 99.70 0 No comment
    PMPCA 99.22 0 No comment
    PMPCB 98.76 0 No comment
    PMS2 98.73 0 No comment
    PNKD 99.01 0 No comment
    PNKP 99.38 0 No comment
    PNP 99.48 0 No comment
    PNPLA6 99.18 0 No comment
    PNPO 98.09 0 No comment
    PNPT1 98.94 0 No comment
    POC1A 98.69 0 No comment
    POC1B 98.91 0 No comment
    POGLUT1 99.01 0 No comment
    POGZ 99.08 0 No comment
    POLA1 93.70 0 No comment
    POLD1 99.32 0 No comment
    POLG 98.98 0 No comment
    POLR1C 99.42 0 No comment
    POLR1D 94.97 0 No comment
    POLR2A 93.09 0 No comment
    POLR3A 99.17 0 No comment
    POLR3B 98.52 0 No comment
    POMGNT1 98.91 0 No comment
    POMGNT2 99.93 0 No comment
    POMT1 99.40 0 No comment
    POMT2 98.43 0 No comment
    PORCN 98.49 0 No comment
    POU1F1 99.20 0 No comment
    POU3F3 72.47 0 No comment
    PPA2 98.38 0 No comment
    PPM1D 98.90 0 No comment
    PPOX 99.10 0 No comment
    PPP1CB 99.15 0 No comment
    PPP1R15B 99.76 0 No comment
    PPP1R1B 97.58 0 No comment
    PPP1R21 97.12 0 No comment
    PPP2CA 99.22 0 No comment
    PPP2R1A 99.53 0 No comment
    PPP2R2B 99.49 0 No comment
    PPP2R5D 99.23 0 No comment
    PPP3CA 97.94 0 No comment
    PPT1 99.42 0 No comment
    PQBP1 98.03 0 No comment
    PRDM12 87.59 0 No comment
    PRDX4 76.26 0 No comment
    PREPL 99.18 0 No comment
    PRICKLE1 99.56 0 No comment
    PRICKLE2 99.38 0 No comment
    PRICKLE3 96.71 0 No comment
    PRKAR1A 99.58 0 No comment
    PRKCG 99.43 0 No comment
    PRKD1 98.77 0 No comment
    PRKRA 99.26 0 No comment
    PRMT9 98.98 0 No comment
    PRMT7 98.06 0 No comment
    PRODH 98.11 0 No comment
    PROP1 99.63 0 No comment
    PLPBP 95.56 0 No comment
    PROX2 99.44 0 No comment
    PRPS1 95.38 0 No comment
    PRR12 98.27 0 No comment
    PRRG1 94.01 0 No comment
    PRRG3 97.85 0 No comment
    PRRT2 99.50 0 No comment
    PRSS12 99.22 0 No comment
    PRSS56 98.31 0 No comment
    PRUNE1 99.16 0 No comment
    PRX 99.79 0 No comment
    PSAP 99.57 0 No comment
    PSAT1 99.42 0 No comment
    PSEN1 99.47 0 No comment
    PSMA7 92.67 0 No comment
    PSMB8 99.96 0 No comment
    PSMD10 98.66 0 No comment
    PSMD12 99.46 0 No comment
    PSPH 99.39 0 No comment
    PTCH1 98.24 0 No comment
    PTCHD1 99.55 0 No comment
    PTDSS1 99.53 0 No comment
    PTEN 97.06 0 No comment
    PTF1A 84.73 0 No comment
    PTH1R 99.36 0 No comment
    PTHLH 99.63 0 No comment
    PTPN11 98.87 0 No comment
    PTPN21 99.21 0 No comment
    PTPN23 99.40 0 No comment
    PTRH2 99.69 0 No comment
    PTRHD1 99.61 0 No comment
    PTS 97.89 0 No comment
    PUF60 99.63 0 No comment
    PUM1 98.63 0 No comment
    PURA 95.31 0 No comment
    PUS1 93.61 0 No comment
    PUS3 99.35 0 No comment
    PUS7 99.26 0 No comment
    NECTIN1 99.41 0 No comment
    PYCR1 99.44 0 No comment
    PYCR2 98.91 0 No comment
    PYGL 99.15 0 No comment
    QARS1 99.24 0 No comment
    QDPR 99.29 0 No comment
    QKI 99.00 0 No comment
    QRICH1 99.47 0 No comment
    RAB11A 99.26 0 No comment
    RAB11B 99.79 0 No comment
    RAB18 98.52 0 No comment
    RAB23 98.94 0 No comment
    RAB27A 96.61 0 No comment
    RAB39B 99.40 0 No comment
    RAB3GAP1 98.90 0 No comment
    RAB3GAP2 99.12 0 No comment
    RAB40AL 99.76 0 No comment
    RABL6 99.51 0 No comment
    RAC1 98.23 0 No comment
    NCOA3 95.06 0 No comment
    RAD21 98.41 0 No comment
    RAD50 97.32 0 No comment
    RAD51 86.56 0 No comment
    RAD51C 98.85 0 No comment
    RAF1 99.16 0 No comment
    RAI1 99.61 0 No comment
    RALA 96.03 0 No comment
    RALGAPA1 98.41 0 No comment
    RALGDS 95.93 0 No comment
    RANBP17 98.36 0 No comment
    RANBP2 99.68 0 No comment
    RAPGEF1 99.41 0 No comment
    RAPSN 99.04 0 No comment
    RARB 99.38 0 No comment
    RARS1 97.45 0 No comment
    RARS2 99.01 0 No comment
    RASA1 97.27 0 No comment
    RAX 93.04 0 No comment
    RBBP8 97.45 0 No comment
    RBFOX1 97.68 0 No comment
    RBL2 98.08 0 No comment
    RBM10 97.07 0 No comment
    RBM28 99.52 0 No comment
    RBM8A 99.76 0 No comment
    RBPJ 99.63 0 No comment
    RECQL4 98.44 0 No comment
    REEP1 98.11 0 No comment
    REEP2 98.01 0 No comment
    RELN 99.14 0 No comment
    RENBP 93.79 0 No comment
    RERE 97.47 0 No comment
    RET 98.30 0 No comment
    RFT1 97.40 0 No comment
    RFX6 98.63 0 No comment
    RTL9 99.02 0 No comment
    RGN 96.72 0 No comment
    RGS7 99.42 0 No comment
    RHEB 99.03 0 No comment
    RHOBTB2 98.98 0 No comment
    RIMS1 98.15 0 No comment
    RIPK4 99.54 0 No comment
    RIT1 99.28 0 No comment
    RLIM 99.09 0 No comment
    RMND1 99.20 0 No comment
    RNASEH2A 99.80 0 No comment
    RNASEH2B 94.50 0 No comment
    RNASEH2C 99.62 0 No comment
    RNASET2 99.20 0 No comment
    RNF113A 99.44 0 No comment
    RNF125 98.59 0 No comment
    RNF13 97.23 0 No comment
    RNF135 98.54 0 No comment
    RNF168 99.46 0 No comment
    RNF216 99.40 0 No comment
    ROBO3 98.40 0 No comment
    ROGDI 96.44 0 No comment
    ROR2 97.79 0 No comment
    RORA 99.37 0 No comment
    RORB 99.16 0 No comment
    RPE65 99.50 0 No comment
    RPGR 91.56 0 No comment
    RPGRIP1 98.66 0 No comment
    RPGRIP1L 95.87 0 No comment
    RPIA 97.45 0 No comment
    RPL10 97.70 0 No comment
    RPS19 98.91 0 No comment
    RPS23 99.81 0 No comment
    RPS6KA3 91.96 0 No comment
    RRAS 94.70 0 No comment
    RRM2B 98.76 0 No comment
    RSPH1 99.58 0 No comment
    RSPH3 99.23 0 No comment
    RSPO4 99.59 0 No comment
    RSPRY1 98.70 0 No comment
    RSRC1 94.18 0 No comment
    RTEL1 99.53 0 No comment
    RTN2 99.37 0 No comment
    RTN4IP1 98.71 0 No comment
    RTTN 98.24 0 No comment
    RUNX2 99.01 0 No comment
    RUSC2 99.39 0 No comment
    RYR1 97.61 0 No comment
    RYR3 99.20 0 No comment
    SACS 99.78 0 No comment
    SALL1 99.82 0 No comment
    SALL4 99.82 0 No comment
    SAMD9 99.90 0 No comment
    SAMHD1 99.51 0 No comment
    SARS2 99.19 0 No comment
    SATB1 99.00 0 No comment
    SATB2 99.38 0 No comment
    SBDS 99.45 0 No comment
    SBF1 99.15 0 No comment
    SBF2 98.85 0 No comment
    SC5D 98.71 0 No comment
    SCAF4 98.85 0 No comment
    SCAMP5 99.20 0 No comment
    SCAPER 98.60 0 No comment
    SCARB2 99.18 0 No comment
    SCARF2 93.83 0 No comment
    SCN11A 98.88 0 No comment
    SCN1A 98.90 0 No comment
    SCN1B 95.08 0 No comment
    SCN2A 99.00 0 No comment
    SCN3A 99.17 0 No comment
    SCN4A 98.53 0 No comment
    SCN8A 96.15 0 No comment
    SCN9A 98.95 0 No comment
    SCO1 99.42 0 No comment
    SCO2 95.41 0 No comment
    SCRIB 99.36 0 No comment
    SCYL1 98.07 0 No comment
    SDCCAG8 99.21 0 No comment
    SDHA 98.78 0 No comment
    SDHAF1 95.67 0 No comment
    SEC23B 98.95 0 No comment
    SEC31A 98.89 0 No comment
    SEPSECS 98.34 0 No comment
    SERAC1 98.92 0 No comment
    SET 99.64 0 No comment
    SETBP1 96.95 0 No comment
    SETD1A 98.37 0 No comment
    SETD1B 95.43 0 No comment
    SETD2 99.04 0 No comment
    SETD5 99.01 0 No comment
    SETDB2 98.15 0 No comment
    SETX 99.48 0 No comment
    SF3B4 98.95 0 No comment
    SGCA 99.28 0 No comment
    SGCE 93.44 0 No comment
    SGPL1 98.02 0 No comment
    SGSH 99.56 0 No comment
    SH3PXD2B 98.34 0 No comment
    SH3TC2 99.47 0 No comment
    SHANK1 95.42 0 No comment
    SHANK2 95.90 0 No comment
    SHANK3 84.05 0 No comment
    SHH 97.41 0 No comment
    SHOC2 98.50 0 No comment
    SHOX 99.66 0 No comment
    SHROOM2 96.54 0 No comment
    SHROOM4 98.99 0 No comment
    SIGMAR1 99.83 0 No comment
    SIK1 99.55 0 No comment
    SIL1 99.44 0 No comment
    SIN3A 99.40 0 No comment
    SIX1 99.50 0 No comment
    SIX3 98.04 0 No comment
    SIX5 96.91 0 No comment
    SKI 94.70 0 No comment
    SKIC2 99.87 0 No comment
    SLC12A5 98.41 0 No comment
    SLC12A6 98.39 0 No comment
    SLC13A5 98.63 0 No comment
    SLC16A2 99.13 0 No comment
    SLC17A5 98.11 0 No comment
    SLC19A3 98.65 0 No comment
    SLC1A1 99.06 0 No comment
    SLC1A2 98.81 0 No comment
    SLC1A4 99.04 0 No comment
    SLC20A2 98.04 0 No comment
    SLC22A5 99.51 0 No comment
    SLC25A1 93.07 0 No comment
    SLC25A12 98.89 0 No comment
    SLC25A13 99.00 0 No comment
    SLC25A15 99.02 0 No comment
    SLC25A19 98.60 0 No comment
    SLC25A20 96.95 0 No comment
    SLC25A22 98.89 0 No comment
    SLC25A24 99.54 0 No comment
    SLC25A26 99.04 0 No comment
    SLC25A38 99.44 0 No comment
    SLC25A53 99.18 0 No comment
    SLC25A6 93.97 0 No comment
    SLC26A2 99.60 0 No comment
    SLC26A9 98.51 0 No comment
    SLC27A4 99.39 0 No comment
    SLC2A1 99.21 0 No comment
    SLC2A10 99.62 0 No comment
    SLC2A2 98.55 0 No comment
    SLC30A9 98.53 0 No comment
    SLC31A1 98.80 0 No comment
    SLC33A1 98.15 0 No comment
    SLC35A1 98.63 0 No comment
    SLC35A2 98.33 0 No comment
    SLC35A3 98.16 0 No comment
    SLC35C1 99.23 0 No comment
    SLC35D1 97.31 0 No comment
    SLC39A13 99.08 0 No comment
    SLC39A14 99.48 0 No comment
    SLC39A8 99.08 0 No comment
    SLC45A1 99.36 0 No comment
    SLC46A1 99.30 0 No comment
    SLC4A1 95.32 0 No comment
    SLC4A11 99.30 0 No comment
    SLC4A4 98.81 0 No comment
    SLC52A3 99.86 0 No comment
    SLC5A2 99.60 0 No comment
    SLC5A5 98.75 0 No comment
    SLC5A6 99.13 0 No comment
    SLC5A7 99.53 0 No comment
    SLC6A1 98.74 0 No comment
    SLC6A17 98.68 0 No comment
    SLC6A19 99.55 0 No comment
    SLC6A3 99.88 0 No comment
    SLC6A4 99.05 0 No comment
    SLC6A5 99.35 0 No comment
    SLC6A8 91.92 0 No comment
    SLC6A9 99.08 0 No comment
    SLC7A7 99.58 0 No comment
    SLC9A6 89.27 0 No comment
    SLC9A9 98.10 0 No comment
    SLX4 99.16 0 No comment
    SMAD3 98.93 0 No comment
    SMAD4 99.09 0 No comment
    SMARCA1 93.45 0 No comment
    SMARCA2 96.71 0 No comment
    SMARCA4 98.96 0 No comment
    SMARCAL1 99.40 0 No comment
    SMARCB1 99.67 0 No comment
    SMARCC1 98.91 0 No comment
    SMARCC2 98.49 0 No comment
    SMARCD1 98.02 0 No comment
    SMARCD2 89.27 0 No comment
    SMARCD3 95.19 0 No comment
    SMARCE1 99.13 0 No comment
    SMC1A 97.63 0 No comment
    SMC3 98.43 0 No comment
    SMCHD1 96.94 0 No comment
    SMG9 99.03 0 No comment
    SMO 97.34 0 No comment
    SMOC1 99.47 0 No comment
    SMPD1 99.59 0 No comment
    SMPD4 99.16 0 No comment
    SMS 93.00 0 No comment
    SNAP25 99.07 0 No comment
    SNAP29 97.81 0 No comment
    SNCA 99.88 0 No comment
    SNIP1 99.49 0 No comment
    SNRPB 99.04 0 No comment
    SNTG1 99.41 0 No comment
    SNX14 98.24 0 No comment
    SNX27 97.42 0 No comment
    SNX3 97.57 0 No comment
    SOBP 91.72 0 No comment
    SON 99.58 0 No comment
    SOS1 98.49 0 No comment
    SOS2 98.44 0 No comment
    SOX10 99.18 0 No comment
    SOX11 98.67 0 No comment
    SOX17 99.36 0 No comment
    SOX2 99.09 0 No comment
    SOX3 92.70 0 No comment
    SOX4 92.73 0 No comment
    SOX5 99.41 0 No comment
    SOX6 98.79 0 No comment
    SOX9 98.76 0 No comment
    SPAG1 92.96 0 No comment
    SPAST 98.37 0 No comment
    AFG2A 98.79 0 No comment
    SPECC1L 99.39 0 No comment
    SPEG 98.56 0 No comment
    SPG11 98.94 0 No comment
    SPART 99.65 0 No comment
    SPG21 99.56 0 No comment
    SPG7 97.12 0 No comment
    SPR 96.31 0 No comment
    SPRED1 99.02 0 No comment
    SPRTN 98.90 0 No comment
    SPRY3 99.98 0 No comment
    SPTAN1 98.92 0 No comment
    SPTBN2 99.21 0 No comment
    SPTLC1 99.27 0 No comment
    SPTLC2 97.79 0 No comment
    SRCAP 99.48 0 No comment
    SRD5A3 99.57 0 No comment
    SREBF2 98.39 0 No comment
    SRGAP3 99.31 0 No comment
    SRP54 98.17 0 No comment
    SRPX2 97.52 0 No comment
    SRY 49.45 0 No comment
    SSR4 96.62 0 No comment
    ST3GAL3 99.33 0 No comment
    ST3GAL5 95.14 0 No comment
    STAB2 99.01 0 No comment
    STAG1 98.53 0 No comment
    STAG2 88.40 0 No comment
    STAMBP 99.15 0 No comment
    STAR 98.82 0 No comment
    STARD8 98.62 0 No comment
    STAT1 99.43 0 No comment
    STAT5B 99.51 0 No comment
    STIL 99.10 0 No comment
    STRA6 98.39 0 No comment
    STRADA 98.02 0 No comment
    STS 94.96 0 No comment
    STT3A 99.15 0 No comment
    STT3B 97.48 0 No comment
    STUB1 98.49 0 No comment
    STX11 99.96 0 No comment
    STX1B 99.29 0 No comment
    STX3 99.34 0 No comment
    STXBP1 99.41 0 No comment
    SUCLG1 97.18 0 No comment
    SUFU 97.89 0 No comment
    SUMF1 99.40 0 No comment
    SUOX 99.68 0 No comment
    SURF1 97.97 0 No comment
    KMT5B 99.52 0 No comment
    SYN1 90.54 0 No comment
    SYNCRIP 99.53 0 No comment
    SYNE1 99.37 0 No comment
    SYNGAP1 97.57 0 No comment
    SYNJ1 98.62 0 No comment
    SYP 98.38 0 No comment
    SYT1 98.69 0 No comment
    SYT14 92.68 0 No comment
    SYTL4 95.73 0 No comment
    SYTL5 95.65 0 No comment
    SZT2 99.40 0 No comment
    TAB2 99.63 0 No comment
    TACO1 99.03 0 No comment
    TAF1 96.88 0 No comment
    TAF13 99.08 0 No comment
    TAF2 98.77 0 No comment
    TAF6 98.77 0 No comment
    TAF7L 96.34 0 No comment
    TANC2 99.08 0 No comment
    TANGO2 99.49 0 No comment
    TAOK1 98.85 0 No comment
    TARDBP 98.93 0 No comment
    TAT 99.63 0 No comment
    TAFAZZIN 98.45 0 No comment
    TBC1D20 96.79 0 No comment
    TBC1D23 96.93 0 No comment
    TBC1D24 99.04 0 No comment
    TBC1D7 99.38 0 No comment
    TBC1D8B 94.09 0 No comment
    TBCD 99.00 0 No comment
    TBCE 97.65 0 No comment
    TBCK 98.11 0 No comment
    TBL1XR1 99.36 0 No comment
    TBP 94.39 0 No comment
    TBR1 97.83 0 No comment
    TBX1 80.23 0 No comment
    TBX15 99.32 0 No comment
    TBX20 98.62 0 No comment
    TBX22 98.45 0 No comment
    TBX3 99.44 0 No comment
    TBX4 96.92 0 No comment
    TBX5 99.04 0 No comment
    TBXAS1 99.15 0 No comment
    TCEAL3 98.98 0 No comment
    TCF12 99.27 0 No comment
    TCF20 99.92 0 No comment
    TCF4 98.18 0 No comment
    TCN2 99.16 0 No comment
    TCOF1 98.98 0 No comment
    TCP10L2 96.65 0 No comment
    TCTN1 99.23 0 No comment
    TCTN2 98.51 0 No comment
    TCTN3 99.33 0 No comment
    TDP2 98.45 0 No comment
    TECPR2 97.98 0 No comment
    TECR 99.15 0 No comment
    TEK 98.69 0 No comment
    TELO2 98.42 0 No comment
    TENM1 97.40 0 No comment
    TERT 97.99 0 No comment
    TFAP2A 99.10 0 No comment
    TFAP2B 99.67 0 No comment
    TFB2M 97.77 0 No comment
    TFE3 97.18 0 No comment
    TFG 97.71 0 No comment
    TGDS 98.69 0 No comment
    TGFB1 98.69 0 No comment
    TGFB2 99.24 0 No comment
    TGFB3 98.80 0 No comment
    TGFBR1 94.44 0 No comment
    TGFBR2 99.42 0 No comment
    TGIF1 99.54 0 No comment
    TGM6 99.52 0 No comment
    TH 98.92 0 No comment
    THAP1 99.83 0 No comment
    THOC2 95.28 0 No comment
    THOC6 99.31 0 No comment
    THRA 98.88 0 No comment
    THRB 99.50 0 No comment
    THUMPD1 97.86 0 No comment
    TIMM50 99.61 0 No comment
    TIMM8A 98.50 0 No comment
    TINF2 99.50 0 No comment
    TK2 96.78 0 No comment
    TKT 97.27 0 No comment
    TKTL1 96.74 0 No comment
    TLK2 98.47 0 No comment
    TLR8 97.46 0 No comment
    TM4SF20 99.00 0 No comment
    TMCO1 94.77 0 No comment
    TMEM126B 97.26 0 No comment
    TMEM132E 98.50 0 No comment
    TMEM135 98.43 0 No comment
    TMEM165 94.88 0 No comment
    TMEM216 99.71 0 No comment
    TMEM231 99.23 0 No comment
    TMEM237 97.63 0 No comment
    TMEM240 99.05 0 No comment
    TMEM260 98.99 0 No comment
    RXYLT1 98.12 0 No comment
    TMEM67 96.82 0 No comment
    TMEM70 99.03 0 No comment
    TMLHE 95.63 0 No comment
    TMPRSS6 99.18 0 No comment
    TMTC3 98.30 0 No comment
    TMX2 99.71 0 No comment
    TNIK 98.61 0 No comment
    TNKS2 98.85 0 No comment
    TNPO2 99.19 0 No comment
    TNRC6B 99.23 0 No comment
    TOE1 99.29 0 No comment
    TOMM70 98.81 0 No comment
    TOR1A 99.40 0 No comment
    TP63 99.19 0 No comment
    TPH2 99.50 0 No comment
    TPK1 98.78 0 No comment
    TPP1 99.55 0 No comment
    TRAF7 99.15 0 No comment
    TRAIP 99.21 0 No comment
    TRAK1 99.03 0 No comment
    TRAPPC11 99.04 0 No comment
    TRAPPC12 99.42 0 No comment
    TRAPPC2 95.98 0 No comment
    TRAPPC4 99.44 0 No comment
    TRAPPC6A 98.87 0 No comment
    TRAPPC6B 98.72 0 No comment
    TRAPPC9 99.07 0 No comment
    TREX1 99.86 0 No comment
    TREX2 96.69 0 No comment
    TRHR 99.49 0 No comment
    TRIM32 99.91 0 No comment
    TRIM37 99.00 0 No comment
    TRIM8 98.75 0 No comment
    TRIO 96.38 0 No comment
    TRIP11 99.09 0 No comment
    TRIP12 98.93 0 No comment
    TRIP13 96.31 0 No comment
    TRIT1 99.11 0 No comment
    TRMT1 98.51 0 No comment
    TRMT10A 99.25 0 No comment
    TRPM1 99.80 0 No comment
    TRPM3 99.30 0 No comment
    TRPS1 99.67 0 No comment
    TRPV4 98.68 0 No comment
    TRRAP 98.54 0 No comment
    TSC1 99.22 0 No comment
    TSC2 98.76 0 No comment
    TSC22D3 98.85 0 No comment
    TSEN15 99.17 0 No comment
    TSEN2 99.38 0 No comment
    TSEN34 99.39 0 No comment
    TSEN54 96.81 0 No comment
    TSFM 91.27 0 No comment
    TSHB 99.78 0 No comment
    TSHR 99.48 0 No comment
    TSPAN7 97.97 0 No comment
    TSPAN8 98.82 0 No comment
    TTBK2 98.86 0 No comment
    TTC19 96.22 0 No comment
    SKIC3 99.15 0 No comment
    TTC5 99.03 0 No comment
    TTC7A 98.98 0 No comment
    TTC8 98.53 0 No comment
    TTI2 99.31 0 No comment
    TTN 99.43 0 No comment
    TTPA 96.73 0 No comment
    TTR 98.18 0 No comment
    TUBA1A 99.98 0 No comment
    TUBA8 99.57 0 No comment
    TUBAL3 99.75 0 No comment
    TUBB 99.92 0 No comment
    TUBB2A 99.92 0 No comment
    TUBB2B 99.64 0 No comment
    TUBB3 99.69 0 No comment
    TUBB4A 99.78 0 No comment
    TUBG1 99.68 0 No comment
    TUBGCP4 98.92 0 No comment
    TUBGCP6 99.55 0 No comment
    TUFM 99.36 0 No comment
    TUSC3 99.50 0 No comment
    TWIST1 87.92 0 No comment
    TWIST2 99.24 0 No comment
    TXNL4A 99.72 0 No comment
    TYR 99.29 0 No comment
    TYRP1 99.39 0 No comment
    UBA5 98.17 0 No comment
    UBE2A 88.22 0 No comment
    UBE3A 99.06 0 No comment
    UBE3B 98.65 0 No comment
    UBR1 99.11 0 No comment
    UBR4 98.90 0 No comment
    UBR7 97.01 0 No comment
    UBTF 99.61 0 No comment
    UFC1 99.37 0 No comment
    UFM1 99.16 0 No comment
    UGP2 98.46 0 No comment
    UGT1A1 99.45 0 No comment
    UMPS 98.48 0 No comment
    UNC13A 99.25 0 No comment
    UNC80 98.86 0 No comment
    UPB1 99.39 0 No comment
    UPF3B 94.60 0 No comment
    UQCRB 99.87 0 No comment
    UQCRQ 99.36 0 No comment
    UROC1 99.06 0 No comment
    UROS 99.56 0 No comment
    USB1 99.41 0 No comment
    USP18 99.79 0 No comment
    USP27X 99.46 0 No comment
    USP7 99.02 0 No comment
    USP9X 95.44 0 No comment
    UTP14A 97.77 0 No comment
    UVSSA 99.24 0 No comment
    VAMP1 96.99 0 No comment
    VAMP2 99.53 0 No comment
    VAMP7 96.50 0 No comment
    VARS1 99.74 0 No comment
    VDR 97.94 0 No comment
    CPAMD8 98.98 0 No comment
    VIPAS39 98.17 0 No comment
    VLDLR 99.08 0 No comment
    VPS11 99.39 0 No comment
    VPS13B 98.28 0 No comment
    VPS33B 99.23 0 No comment
    VPS35 99.22 0 No comment
    VPS51 99.19 0 No comment
    VPS53 97.29 0 No comment
    VRK1 98.70 0 No comment
    VSX2 98.36 0 No comment
    WAC 98.16 0 No comment
    WARS2 99.20 0 No comment
    WASF1 98.47 0 No comment
    WDFY3 99.10 0 No comment
    WDPCP 98.96 0 No comment
    WDR11 99.19 0 No comment
    WDR13 96.77 0 No comment
    WDR19 98.40 0 No comment
    WDR26 98.93 0 No comment
    DYNC2I2 98.79 0 No comment
    WDR35 99.09 0 No comment
    WDR37 99.18 0 No comment
    WDR4 98.27 0 No comment
    WDR45 97.90 0 No comment
    WDR45B 99.15 0 No comment
    DYNC2I1 98.85 0 No comment
    WDR62 99.01 0 No comment
    WDR73 99.05 0 No comment
    WDR81 99.65 0 No comment
    WFS1 99.63 0 No comment
    NSD2 99.05 0 No comment
    WIPI2 98.93 0 No comment
    WNK3 97.70 0 No comment
    WNT1 98.69 0 No comment
    WNT10B 98.91 0 No comment
    WNT3 99.00 0 No comment
    WNT4 93.68 0 No comment
    WNT5A 98.73 0 No comment
    WNT7A 99.49 0 No comment
    WRAP53 98.86 0 No comment
    WRN 98.36 0 No comment
    WT1 98.77 0 No comment
    WWC3 96.63 0 No comment
    WWOX 99.58 0 No comment
    XIAP 97.48 0 No comment
    XK 96.00 0 No comment
    XKRX 98.90 0 No comment
    XPA 99.29 0 No comment
    XPC 98.92 0 No comment
    XPNPEP3 99.18 0 No comment
    XRCC4 98.59 0 No comment
    XYLT1 90.22 0 No comment
    YAP1 98.22 0 No comment
    YARS1 99.78 0 No comment
    YWHAG 99.64 0 No comment
    YY1 98.44 0 No comment
    ZBTB11 99.16 0 No comment
    ZBTB16 99.58 0 No comment
    ZBTB18 98.72 0 No comment
    ZBTB20 99.54 0 No comment
    ZBTB24 99.82 0 No comment
    ZBTB40 99.17 0 No comment
    ZC3H14 98.92 0 No comment
    ZC4H2 96.37 0 No comment
    ZCCHC12 98.81 0 No comment
    ZCCHC8 92.04 0 No comment
    ZDHHC15 90.89 0 No comment
    ZDHHC9 97.43 0 No comment
    ZEB2 98.91 0 No comment
    ZFHX4 99.34 0 No comment
    ZFP57 99.93 0 No comment
    ZFX 98.98 0 No comment
    ZFYVE26 99.08 0 No comment
    ZIC1 99.80 0 No comment
    ZIC2 89.81 0 No comment
    ZIC3 99.00 0 No comment
    ZMIZ1 99.16 0 No comment
    ZMPSTE24 98.12 0 No comment
    ZMYM3 97.06 0 No comment
    ZMYM6 98.59 0 No comment
    ZMYND11 99.29 0 No comment
    ZMYND12 98.18 0 No comment
    ZNF142 99.52 0 No comment
    ZNF148 99.29 0 No comment
    ZNF292 99.59 0 No comment
    ZNF335 98.86 0 No comment
    ZNF41 99.12 0 No comment
    ZNF425 99.39 0 No comment
    ZNF462 99.73 0 No comment
    ZNF526 99.70 0 No comment
    ZNF592 99.65 0 No comment
    ZNF599 99.82 0 No comment
    ZNF674 98.90 0 No comment
    ZNF711 97.16 0 No comment
    ZNF713 99.38 0 No comment
    ZNF81 99.07 0 No comment
    ZSWIM6 88.76 0 No comment
  • Intellectual disability/Epilepsy (1091 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 99.35 0 Vissers et al., EJHG 2015 : Noonan syndrome
    ABCC9 99.41 0 Hypertrichotic osteochondrodysplasia
    ABCD1 99.49 0 Adrenoleukodystrophy
    ABHD5 98.48 0 Chanarin-Dorfman syndrome
    ACAD9 99.57 0 Mitochondrial complex I deficiency due to ACAD9 deficiency
    ACO2 99.66 0 Infantile cerebellar-retinal degeneration
    ACOX1 99.49 0 Peroxisomal acyl-CoA oxidase deficiency
    ACSL4 91.09 0 Mental retardation, X-linked 63
    ACTB 99.34 0 Baraitser-Winter syndrome 1
    ACTG1 99.69 0 Baraitser-Winter syndrome 2
    ACY1 99.67 0 Aminoacylase 1 deficiency
    ADAR 99.45 0 Aicardi-Goutieres syndrome 6
    ADAT3 81.40 0 Mental retardation, autosomal recessive 36
    ADGRG1 99.67 0 Polymicrogyria, bilateral frontoparietal
    ADK 98.74 0 Hypermethioninemia due to adenosine kinase deficiency
    ADNP 99.55 0 Helsmoortel-van der Aa syndrome
    ADSL 99.58 0 Adenylosuccinase deficiency
    AFF2 90.80 0 Mental retardation, X-linked, FRAXE type
    AGA 99.60 0 Aspartylglucosaminuria
    AGPAT2 91.26 0 Lipodystrophy, congenital generalized, type 1
    AHCY 99.67 0 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
    AHDC1 99.68 0 Xia-Gibbs syndrome
    AHI1 99.05 0 Joubert syndrome 3
    AIMP1 96.88 0 Leukodystrophy, hypomyelinating, 3
    AKT3 98.82 0 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
    ALDH18A1 99.66 0 Cutis laxa, autosomal recessive, type IIIA
    ALDH3A2 99.31 0 Sjogren-Larsson syndrome
    ALDH4A1 96.44 0 Hyperprolinemia, type II
    ALDH5A1 93.04 0 Succinic semialdehyde dehydrogenase deficiency
    ALDH7A1 99.00 0 Epilepsy, pyridoxine-dependent
    ALG1 99.43 0 Congenital disorder of glycosylation, type Ik
    ALG11 99.57 0 Congenital disorder of glycosylation, type Ip
    ALG12 99.69 0 Congenital disorder of glycosylation, type Ig
    ALG13 92.88 0 Epileptic encephalopathy, early infantile, 36
    ALG2 97.14 0 Myasthenic syndrome, congenital, 14, with tubular aggregates
    ALG3 99.59 0 Congenital disorder of glycosylation, type Id
    ALG6 98.36 0 Congenital disorder of glycosylation, type Ic
    ALG9 96.33 0 Gillessen-Kaesbach-Nishimura syndrome
    ALMS1 98.27 0 Alstrom syndrome
    ALX1 99.52 0 Frontonasal dysplasia 3
    ALX4 99.07 0 Frontonasal dysplasia 2
    AMER1 99.96 0 Osteopathia striata with cranial sclerosis
    AMPD2 99.69 0 Pontocerebellar hypoplasia, type 9
    AMT 99.69 0 Glycine encephalopathy
    ANK3 99.47 0 Mental retardation, autosomal recessive, 37
    ANKH 99.64 0 Craniometaphyseal dysplasia
    ANKRD11 99.68 0 KBG syndrome
    AP1S1 99.50 0 MEDNIK syndrome
    AP1S2 88.78 0 Mental retardation, X-linked syndromic 5
    AP4B1 99.61 0 Spastic paraplegia 47, autosomal recessive
    AP4M1 99.68 0 Spastic paraplegia 50, autosomal recessive
    AP4S1 99.48 0 Spastic paraplegia 52, autosomal recessive
    APTX 99.02 0 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
    ARCN1 99.27 0 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
    ARFGEF2 99.31 0 Periventricular heterotopia with microcephaly
    ARG1 99.53 0 Argininemia
    ARHGAP31 99.60 0 Adams-Oliver syndrome 1
    ARHGEF2 99.64 0 Neurodevelopmental disorder with midbrain and hindbrain malformations
    ARHGEF9 97.26 0 Epileptic encephalopathy, early infantile, 8
    ARID1A 97.02 0 Coffin-Siris syndrome 2
    ARID1B 97.57 0 Coffin-Siris syndrome 1
    ARID2 99.33 0 Coffis-Siris syndrome 6
    ARL13B 98.36 0 Joubert syndrome 8
    ARL6 99.09 0 Bardet-Biedl syndrome 3
    ARSL 90.38 0 Chondrodysplasia punctata, X-linked recessive
    ARX 65.25 0 Mental retardation, X-linked 29 and others
    ASH1L 99.53 0 Okamoto et al., AJMG 2017 : MCA/ID syndrome
    ASNS 99.42 0 Asparagine synthetase deficiency
    ASPA 99.17 0 Canavan disease
    ASPM 98.50 0 Microcephaly 5, primary, autosomal recessive
    ASXL1 95.03 0 Bohring-Opitz syndrome
    ASXL3 98.20 0 Bainbridge-Ropers syndrome
    ATIC 96.73 0 AICA-ribosiduria due to ATIC deficiency
    ATP6V0A2 99.12 0 Cutis laxa, autosomal recessive, type IIA
    ATP7A 94.32 0 Menkes disease
    ATR 99.17 0 Seckel syndrome 1
    ATRIP 95.19 0 Ogi et al., PLoS Genet 2012 : Seckel syndrome
    ATRX 92.10 0 Mental retardation-hypotonic facies syndrome, X-linked
    AUH 96.75 0 3-methylglutaconic aciduria, type I
    AUTS2 97.55 0 Mental retardation, autosomal dominant 26
    B3GLCT 92.21 0 Peters-plus syndrome
    B4GALT1 98.41 0 Congenital disorder of glycosylation, type IId
    B4GALT7 83.36 0 Ehlers-Danlos syndrome with short stature and limb anomalies
    BBIP1 99.64 0 Bardet-Biedl syndrome 18
    BBS1 99.66 0 Bardet-Biedl syndrome 1
    BBS10 99.57 0 Bardet-Biedl syndrome 10
    BBS12 99.52 0 Bardet-Biedl syndrome 12
    BBS2 99.32 0 Bardet-Biedl syndrome 2
    BBS4 99.49 0 Bardet-Biedl syndrome 4
    BBS5 98.49 0 Bardet-Biedl syndrome 5
    BBS7 99.00 0 Bardet-Biedl syndrome 7
    BBS9 98.68 0 Bardet-Biedl syndrome 9
    BCKDHB 98.82 0 Maple syrup urine disease, type Ib
    BCL11A 99.16 0 Dias-Logan syndrome
    BCOR 96.85 0 Microphthalmia, syndromic 2
    BCS1L 99.69 0 Leigh syndrome
    BLM 99.07 0 Bloom syndrome
    BRAF 94.78 0 Noonan syndrome 7
    BRPF1 99.67 0 Intellectual developmental disorder with dysmorphic facies and ptosis
    BRWD3 93.74 0 Mental retardation, X-linked 93
    BSCL2 99.67 0 Encephalopathy, progressive, with or without lipodystrophy
    BTD 99.68 0 Biotinidase deficiency
    BUB1B 99.40 0 Mosaic variegated aneuploidy syndrome 1
    C12ORF57 99.69 0 Platzer et al., AJMG 2014 : RM, hypoplasie corps caleux, colobome, épilepsie.
    C19ORF12 99.69 0 Neurodegeneration with brain iron accumulation 4
    C2CD3 99.44 0 Orofaciodigital syndrome XIV
    CPLANE1 98.89 0 Joubert syndrome 17
    CA8 99.19 0 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
    CACNA1A 99.12 0 Epileptic encephalopathy, early infantile, 42
    CACNA1C 99.65 0 Timothy syndrome
    CACNA1D 99.50 0 Primary aldosteronism, seizures, and neurologic abnormalities
    CAMK2A 99.67 0 Mental retardation, autosomal dominant 53
    CAMK2B 96.34 0 Mental retardation, autosomal dominant 54
    CANT1 99.60 0 Desbuquois dysplasia 1
    CASK 95.36 0 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
    CAV1 99.67 0 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
    CAVIN1 99.31 0 Lipodystrophy, congenital generalized, type 4
    CBL 99.54 0 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
    CBS 99.69 0 Homocystinuria, B6-responsive and nonresponsive types
    CC2D1A 99.64 0 Mental retardation, autosomal recessive 3
    CC2D2A 99.11 0 Joubert syndrome 9
    CCDC22 99.91 0 Ritscher-Schinzel syndrome 2
    CCDC39 98.07 0 Ciliary dyskinesia, primary, 14
    CCDC78 99.69 0 Myopathy, centronuclear, 4
    CCDC88C 99.38 0 Hydrocephalus, nonsyndromic, autosomal recessive
    CD96 99.13 0 C syndrome
    CDC45 99.57 0 Meier-Gorlin syndrome 7
    CDC6 99.32 0 Meier-Gorlin syndrome 5
    CDH15 96.19 0 Mental retardation, autosomal dominant 3
    CDK13 95.39 0 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
    CDK5RAP2 99.45 0 Microcephaly 3, primary, autosomal recessive
    CDKL5 87.62 0 Epileptic encephalopathy, early infantile, 2
    CDON 98.90 0 Holoprosencephaly 11
    CDT1 89.72 0 Meier-Gorlin syndrome 4
    CENPJ 99.19 0 Microcephaly 6, primary, autosomal recessive
    CEP135 97.81 0 Microcephaly 8, primary, autosomal recessive
    CEP152 98.40 0 Microcephaly 9, primary, autosomal recessive
    CEP290 97.64 0 Joubert syndrome 5
    CEP41 99.07 0 Joubert syndrome 15
    CEP57 99.09 0 Mosaic variegated aneuploidy syndrome 2
    CEP63 99.06 0 Seckel syndrome 6
    CHAMP1 99.63 0 Mental retardation, autosomal dominant 40
    CHAT 97.70 0 Myasthenic syndrome, congenital, 6, presynaptic
    CHD2 99.18 0 Epileptic encephalopathy, childhood-onset
    CHD4 99.65 0 Sifrim-Hitz-Weiss syndrome
    CHD7 99.53 0 CHARGE syndrome
    CHD8 99.58 0 Autism, susceptibility to, 18
    CHKB 97.97 0 Muscular dystrophy, congenital, megaconial type
    CHMP1A 99.59 0 Pontocerebellar hypoplasia, type 8
    CHRNA4 90.96 0 Epilepsy, nocturnal frontal lobe, 1
    CHRND 99.68 0 Myasthenic syndrome, congenital, 3B, fast-channel
    CISD2 98.61 0 Wolfram syndrome 2
    CLCN4 99.27 0 Mental retardation, X-linked 49/15
    CLN3 99.69 0 Ceroid lipofuscinosis, neuronal, 3
    CLN5 97.69 0 Ceroid lipofuscinosis, neuronal, 5
    CLN6 85.06 0 Ceroid lipofuscinosis, neuronal, 6
    CLN8 99.69 0 Ceroid lipofuscinosis, neuronal, 8
    CLP1 99.68 0 Pontocerebellar hypoplasia, type 10
    CLPB 99.62 0 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
    CNKSR2 91.50 0 Houge et al., Mol Syndromol 2012 : ID
    CNTNAP2 99.39 0 Pitt-Hopkins like syndrome 1
    COASY 99.68 0 Neurodegeneration with brain iron accumulation 6
    COG1 98.34 0 Congenital disorder of glycosylation, type IIg
    COG5 99.11 0 Congenital disorder of glycosylation, type IIi
    COG6 98.39 0 Congenital disorder of glycosylation, type IIl
    COG7 99.66 0 Congenital disorder of glycosylation, type IIe
    COG8 97.38 0 Congenital disorder of glycosylation, type IIh
    COL4A1 97.86 0 Porencephaly 1
    COL4A2 99.62 0 Porencephaly 2
    CERT1 99.15 0 Mental retardation, autosomal dominant 34
    COLEC10 99.16 0 Mental retardation, autosomal dominant 34
    COLEC11 99.67 0 3MC syndrome 2
    COQ2 94.52 0 Coenzyme Q10 deficiency, primary, 1
    COQ4 98.74 0 Coenzyme Q10 deficiency, primary, 7
    COQ6 99.60 0 Coenzyme Q10 deficiency, primary, 6
    COQ7 99.40 0 Coenzyme Q10 deficiency, primary, 8
    COQ8A 99.69 0 Coenzyme Q10 deficiency, primary, 4
    COQ9 98.23 0 Coenzyme Q10 deficiency, primary, 5
    COX10 99.65 0 Leigh syndrome due to mitochondrial COX4 deficiency
    CRADD 99.63 0 Mental retardation, autosomal recessive 34, with variant lissencephaly
    CRBN 98.86 0 Mental retardation, autosomal recessive 2
    CREBBP 99.62 0 Rubinstein-Taybi syndrome 1
    CSNK2A1 99.32 0 Okur-Chung neurodevelopmental syndrome
    CSPP1 98.95 0 Joubert syndrome 21
    CTC1 99.57 0 Cerebroretinal microangiopathy with calcifications and cysts
    CTCF 99.65 0 Mental retardation, autosomal dominant 21
    CTNNB1 99.65 0 Mental retardation, autosomal dominant 19
    CTSA 99.59 0 Galactosialidosis
    CTSD 94.51 0 Ceroid lipofuscinosis, neuronal, 10
    CUL4B 84.65 0 Mental retardation, X-linked, syndromic 15 (Cabezas type)
    CYB5R3 88.44 0 Methemoglobinemia, type I
    CYP27A1 97.94 0 Cerebrotendinous xanthomatosis
    D2HGDH 98.50 0 D-2-hydroxyglutaric aciduria
    DAG1 99.69 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
    DARS2 99.20 0 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
    DCAF17 93.81 0 Woodhouse-Sakati syndrome
    DCC 99.55 0 Mirror movements 1 and/or agenesis of the corpus callosum
    DCPS 99.69 0 Al-Raqad syndrome
    DCX 96.94 0 Lissencephaly, X-linked
    DDB2 99.69 0 Xeroderma pigmentosum, group E, DDB-negative subtype
    DDHD2 97.74 0 Spastic paraplegia 54, autosomal recessive
    DDX11 99.66 0 Warsaw breakage syndrome
    DDX3X 96.52 0 Mental retardation, X-linked 102
    DEAF1 92.63 0 Mental retardation, autosomal dominant 24
    DHCR24 99.34 0 Desmosterolosis
    DHCR7 99.68 0 Smith-Lemli-Opitz syndrome
    DHFR 98.50 0 Megaloblastic anemia due to dihydrofolate reductase deficiency
    DHX30 99.51 0 Lessel et al., AJHG 2017 : global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities.
    DIAPH1 95.85 0 Seizures, cortical blindness, microcephaly syndrome
    DKC1 91.60 0 Dyskeratosis congenita, X-linked
    DLD 99.08 0 Dihydrolipoamide dehydrogenase deficiency
    DLG3 98.91 0 Mental retardation, X-linked 90
    DLL4 99.61 0 Adams-Oliver syndrome 6
    DNAJC19 97.60 0 3-methylglutaconic aciduria, type V
    DNM1 96.84 0 Epileptic encephalopathy, early infantile, 31
    DNMT3A 99.69 0 Tatton-Brown-Rahman syndrome
    DNMT3B 99.69 0 Immunodeficiency-centromeric instability-facial anomalies syndrome 1
    DOCK6 97.92 0 Adams-Oliver syndrome 2
    DOCK8 99.24 0 Hyper-IgE recurrent infection syndrome, autosomal recessive
    DPAGT1 99.68 0 Congenital disorder of glycosylation, type Ij
    DPH1 99.67 0 Developmental delay with short stature, dysmorphic features, and sparse hair
    DPM1 99.27 0 Congenital disorder of glycosylation, type Ie
    DPP6 99.57 0 Mental retardation, autosomal dominant 33
    DSCAM 99.29 0 Wang et al., Nat Commun 2016 : Autisme
    DYNC1H1 99.50 0 Mental retardation, autosomal dominant 13
    DYRK1A 99.53 0 Mental retardation, autosomal dominant 7
    EARS2 99.64 0 Combined oxidative phosphorylation deficiency 12
    EBF3 98.59 0 Hypotonia, ataxia, and delayed development syndrome
    EBP 99.89 0 MEND syndrome
    ECHS1 98.49 0 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
    EDC3 99.68 0 Mental retardation, autosomal recessive 50
    EEF1A2 88.74 0 Mental retardation, autosomal dominant 38
    EFNB1 99.39 0 Craniofrontonasal dysplasia
    EFTUD2 99.44 0 Mandibulofacial dysostosis, Guion-Almeida type
    EHMT1 95.40 0 Kleefstra syndrome
    EIF2AK3 94.12 0 Wolcott-Rallison syndrome
    EIF2S3 97.88 0 Mental retardation, X-linked, syndromic, Borck type
    ELOVL4 99.45 0 Ichthyosis, spastic quadriplegia, and mental retardation
    ELP2 98.99 0 Mental retardation, autosomal recessive 58
    EML1 96.28 0 Band heterotopia
    EMX2 99.48 0 Schizencephaly
    ENTPD1 99.05 0 Spastic paraplegia 64, autosomal recessive
    EOGT 99.33 0 Adams-Oliver syndrome 4
    EP300 99.56 0 Rubinstein-Taybi syndrome 2
    EPB41L1 99.69 0 Mental retardation, autosomal dominant 11
    EPG5 99.47 0 Vici syndrome
    ERCC2 99.67 0 Cerebrooculofacioskeletal syndrome 2
    ERCC3 99.68 0 Xeroderma pigmentosum, group B
    ERCC4 99.35 0 Xeroderma pigmentosum, type F/Cockayne syndrome
    ERCC5 99.48 0 Xeroderma pigmentosum, group G/Cockayne syndrome
    ERCC6 99.07 0 Cerebrooculofacioskeletal syndrome 1
    ERCC8 99.27 0 Cockayne syndrome, type A
    ERLIN2 99.32 0 Spastic paraplegia 18, autosomal recessive
    ESCO2 98.50 0 Roberts syndrome
    ETHE1 99.60 0 Ethylmalonic encephalopathy
    EXOSC3 99.53 0 Pontocerebellar hypoplasia, type 1B
    EZH2 99.41 0 Weaver syndrome
    EZR 99.63 0 Riecken et al., Hum Mut 2015 : ID
    HYCC1 98.81 0 Leukodystrophy, hypomyelinating, 5
    FARS2 99.56 0 Combined oxidative phosphorylation deficiency 14
    FAT4 99.39 0 Van Maldergem syndrome 2
    FBXL4 99.46 0 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
    FBXO31 93.34 0 Mental retardation, autosomal recessive 45
    FGD1 98.23 0 Mental retardation, X-linked syndromic 16
    FGFR1 99.69 0 Hypogonadotropic hypogonadism 2 with or without anosmia
    FGFR2 99.67 0 Saethre-Chotzen syndrome
    FGFR3 95.86 0 Crouzon syndrome with acanthosis nigricans
    FH 99.29 0 Fumarase deficiency
    FKRP 85.03 0 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
    FKTN 99.13 0 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4
    FLNA 99.73 0 Heterotopia, periventricular
    FMN2 99.05 0 Mental retardation, autosomal recessive 47
    FMR1 94.48 0 Fragile X tremor/ataxia syndrome
    FOLR1 99.69 0 Neurodegeneration due to cerebral folate transport deficiency
    FOXG1 84.20 0 Rett syndrome, congenital variant
    FOXP1 99.55 0 Mental retardation with language impairment and with or without autistic features
    FOXP2 99.34 0 Speech-language disorder-1
    FOXRED1 99.63 0 Leigh syndrome due to mitochondrial complex I deficiency
    FRAS1 99.57 0 Fraser syndrome 1
    FREM2 99.23 0 Fraser syndrome 2
    FRMPD4 96.56 0 Mental retardation, X-linked 104
    FTCD 95.82 0 Glutamate formiminotransferase deficiency
    FTL 99.55 0 Neurodegeneration with brain iron accumulation 3
    FTO 99.47 0 Growth retardation, developmental delay, facial dysmorphism
    FTSJ1 99.69 0 Mental retardation, X-linked 9/44
    FUCA1 98.18 0 Fucosidosis
    GABRA3 87.08 0 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 0 Epileptic encephalopathy, early infantile, 43
    GABRG2 99.57 0 Epilepsy, generalized, with febrile seizures plus, type 3
    GALT 99.68 0 Galactosemia
    GAMT 93.42 0 Cerebral creatine deficiency syndrome 2
    GAN 98.90 0 Giant axonal neuropathy-1
    GATAD2B 99.69 0 Mental retardation, autosomal dominant 18
    GATM 94.01 0 Cerebral creatine deficiency syndrome 3
    GBE1 98.82 0 Glycogen storage disease IV
    GCH1 93.92 0 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
    GCSH 86.02 0 Glycine encephalopathy
    GDI1 95.21 0 Mental retardation, X-linked 41
    GFAP 99.69 0 Alexander disease
    GJC2 73.70 0 Leukodystrophy, hypomyelinating, 2
    GLB1 99.56 0 GM1-gangliosidosis, type I
    GLDC 97.83 0 Glycine encephalopathy
    GLI2 98.60 0 Holoprosencephaly 9
    GLI3 99.55 0 Greig cephalopolysyndactyly syndrome
    GLUL 99.68 0 Glutamine deficiency, congenital
    GLYCTK 99.69 0 D-glyceric aciduria
    GM2A 99.68 0 GM2-gangliosidosis, AB variant
    GMPPA 99.69 0 Alacrima, achalasia, and mental retardation syndrome
    GMPPB 99.64 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
    GNAI3 99.08 0 Auriculocondylar syndrome 1
    GNAO1 99.66 0 Epileptic encephalopathy, early infantile, 17
    GNAS 97.96 0 Pseudohypoparathyroidism Ia
    GNPAT 97.06 0 Rhizomelic chondrodysplasia punctata, type 2
    GNPTAB 99.49 0 Mucolipidosis II alpha/beta
    GNPTG 90.19 0 Mucolipidosis III gamma
    GNS 99.55 0 Mucopolysaccharidosis type IIID
    GPC3 91.66 0 Simpson-Golabi-Behmel syndrome, type 1
    GPHN 99.58 0 Molybdenum cofactor deficiency C
    GPSM2 99.10 0 Chudley-McCullough syndrome
    GPT2 95.20 0 Mental retardation, autosomal recessive 49
    GRIA3 89.99 0 Mental retardation, X-linked 94
    GRID2 99.47 0 Spinocerebellar ataxia, autosomal recessive 18
    GRIK2 99.13 0 Mental retardation, autosomal recessive, 6
    GRIN1 99.54 0 Mental retardation, autosomal dominant 8
    GRIN2A 99.68 0 Epilepsy, focal, with speech disorder and with or without mental retardation
    GRIN2B 99.66 0 Mental retardation, autosomal dominant 6
    GRIP1 99.65 0 Fraser syndrome 3
    GRM1 99.46 0 Spinocerebellar ataxia 44
    GSS 99.59 0 Glutathione synthetase deficiency
    GTF2E2 98.86 0 Trichothiodystrophy 6, nonphotosensitive
    GTF2H5 99.64 0 Trichothiodystrophy 3, photosensitive
    GTPBP3 97.37 0 Combined oxidative phosphorylation deficiency 23
    GUSB 98.73 0 Mucopolysaccharidosis VII
    HACE1 96.37 0 Spastic paraplegia and psychomotor retardation with or without seizures
    HCFC1 99.76 0 Spastic paraplegia and psychomotor retardation with or without seizures
    HCN1 94.14 0 Epileptic encephalopathy, early infantile, 24
    HDAC4 99.68 0 Fisch et al., AJMG 2016 : ID
    HDAC8 99.17 0 Cornelia de Lange syndrome 5
    HECW2 99.50 0 Neurodevelopmental disorder with hypotonia, seizures, and absent language
    HEPACAM 91.30 0 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
    HERC1 99.49 0 Macrocephaly, dysmorphic facies, and psychomotor retardation
    HERC2 99.66 0 Mental retardation, autosomal recessive 38
    HESX1 98.36 0 Growth hormone deficiency with pituitary anomalies
    HEXA 99.67 0 Tay-Sachs disease
    HEXB 97.84 0 Sandhoff disease, infantile, juvenile, and adult forms
    HGSNAT 94.00 0 Mucopolysaccharidosis type IIIC (Sanfilippo C)
    HIVEP2 99.60 0 Mental retardation, autosomal dominant 43
    HLCS 99.60 0 Holocarboxylase synthetase deficiency
    HNMT 99.26 0 Mental retardation, autosomal recessive 51
    HNRNPH2 99.85 0 Mental retardation, X-linked, syndromic, Bain type
    HNRNPK 99.17 0 Au-Kline syndrome
    HNRNPU 98.33 0 Epileptic encephalopathy, early infantile, 54
    HOXA1 99.65 0 Athabaskan brainstem dysgenesis syndrome
    HPRT1 75.78 0 Lesch-Nyhan syndrome
    HRAS 99.69 0 Costello syndrome
    HSD17B10 99.97 0 HSD10 mitochondrial disease
    HSPG2 98.62 0 Dyssegmental dysplasia, Silverman-Handmaker type
    HUWE1 97.92 0 Mental retardation, X-linked syndromic, Turner type
    IARS1 99.32 0 Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
    IARS2 99.11 0 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
    IDS 97.07 0 Mucopolysaccharidosis II
    IDUA 77.72 0 Mucopolysaccharidosis Ih/s
    IER3IP1 98.86 0 Microcephaly, epilepsy, and diabetes syndrome
    IFIH1 99.07 0 Aicardi-Goutieres syndrome 7
    IFT172 99.62 0 Short-rib thoracic dysplasia 10 with or without polydactyly
    IFT27 99.69 0 Bardet-Biedl syndrome 19
    IFT57 98.66 0 Thevenon et al., Clin Genet 2016 : Oro-facial-digital syndrome
    IGF1 99.63 0 Growth retardation with deafness and mental retardation due to IGF1 deficiency
    IL1RAPL1 93.86 0 Mental retardation, X-linked 21/34
    INPP5E 98.14 0 Joubert syndrome 1
    INTU 98.49 0 Bruel et al., JMG 2017 : oro-facial-digital syndrome
    IQSEC2 97.05 0 Mental retardation, X-linked 1/78
    IRX5 89.09 0 Hamamy syndrome
    CRPPA 92.51 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
    ITGA7 99.67 0 Muscular dystrophy, congenital, due to ITGA7 deficiency
    ITPR1 99.38 0 Spinocerebellar ataxia 29, congenital nonprogressive
    JAM3 99.20 0 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
    KANSL1 99.63 0 Koolen-De Vries syndrome
    KAT6A 99.60 0 Mental retardation, autosomal dominant 32
    KAT6B 99.21 0 Genitopatellar syndrome
    KCNC1 99.05 0 Epilepsy, progressive myoclonic 7
    KCNC3 76.28 0 Spinocerebellar ataxia 13
    KCNH1 98.56 0 Temple-Baraitser syndrome
    KCNJ10 99.68 0 SESAME syndrome
    KCNJ11 99.69 0 Diabetes, permanent neonatal, with or without neurologic features
    KCNK9 99.67 0 Birk-Barel mental retardation dysmorphism syndrome
    KCNMA1 99.54 0 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
    KCNQ2 98.93 0 Epileptic encephalopathy, early infantile, 7
    KCNQ5 96.45 0 Mental retardation, autosomal dominant 46
    KCNT1 98.70 0 Epileptic encephalopathy, early infantile, 14
    KCTD7 95.20 0 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
    KDM1A 96.83 0 Cleft palate, psychomotor retardation, and distinctive facial features
    KDM5C 99.87 0 Mental retardation, X-linked, syndromic, Claes-Jensen type
    KDM6A 94.07 0 Kabuki syndrome 2
    KIAA0586 92.34 0 Joubert syndrome 23
    KIAA0753 99.23 0 Orofaciodigital syndrome XV
    NEXMIF 97.66 0 Mental retardation, X-linked 98
    KIF11 98.74 0 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
    KIF1A 99.66 0 Mental retardation, autosomal dominant 9
    KIFBP 96.44 0 Goldberg-Shprintzen megacolon syndrome
    KIF4A 99.41 0 Mental retardation, X-linked 100
    KIF5A 99.35 0 Myoclonus, intractable, neonatal
    KIF5C 96.19 0 Cortical dysplasia, complex, with other brain malformations 2
    KIF7 99.42 0 Joubert syndrome 12
    KIRREL3 99.66 0 Mental retardation, autosomal dominant 4
    KLC2 99.69 0 Spastic paraplegia, optic atrophy, and neuropathy
    KMT2A 97.93 0 Wiedemann-Steiner syndrome
    KMT2C 99.31 0 Kleefstra syndrome 2
    KMT2D 99.67 0 Kabuki syndrome 1
    KMT2E 98.54 0 Dong et al., Cell Rep 2014 : trouble du spectre autistique
    KMT5B 99.31 0 Stessman et al., Nat Genet 2017 : autisme et retard développemental
    KNL1 92.70 0 Microcephaly 4, primary, autosomal recessive
    KPTN 99.37 0 Mental retardation, autosomal recessive 41
    KRAS 99.32 0 Noonan syndrome 3
    L1CAM 99.66 0 CRASH syndrome
    L2HGDH 98.45 0 L-2-hydroxyglutaric aciduria
    LAMA1 99.13 0 Poretti-Boltshauser syndrome
    LAMA2 99.46 0 Muscular dystrophy, congenital, due to partial LAMA2 deficiency
    LAMB1 99.50 0 Lissencephaly 5
    LAMC3 97.99 0 Cortical malformations, occipital
    LAMP2 93.32 0 Danon disease
    LARGE1 99.64 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
    LARP7 97.40 0 Alazami syndrome
    LAS1L 99.76 0 Wilson-Turner syndrome
    LIAS 98.94 0 Hyperglycinemia, lactic acidosis, and seizures
    LIG4 99.55 0 LIG4 syndrome
    LINS1 98.65 0 Mental retardation, autosomal recessive 27
    LIPT1 98.69 0 Lipoyltransferase 1 deficiency
    LMBRD1 96.94 0 Methylmalonic aciduria and homocystinuria, cblF type
    LMNA 99.49 0 Emery-Dreifuss muscular dystrophy 3, AR
    LRP2 99.40 0 Donnai-Barrow syndrome
    LZTFL1 98.67 0 Bardet-Biedl syndrome 17
    LZTR1 99.56 0 Noonan syndrome 10
    MAGEL2 98.06 0 Schaaf-Yang syndrome
    MAN1B1 98.88 0 Mental retardation, autosomal recessive 15
    MAN2B1 99.40 0 Mannosidosis, alpha-, types I and II
    MANBA 99.01 0 Mannosidosis, beta
    MAOA 85.51 0 Brunner syndrome
    MAP2K1 99.62 0 Cardiofaciocutaneous syndrome 3
    MAP2K2 99.01 0 Cardiofaciocutaneous syndrome 4
    MASP1 99.59 0 3MC syndrome 1
    MAT1A 99.66 0 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
    MBD5 99.52 0 Mental retardation, autosomal dominant 1
    MBOAT7 99.50 0 Mental retardation, autosomal recessive 57
    MBTPS2 96.46 0 IFAP syndrome with or without BRESHECK syndrome
    MCCC1 99.50 0 3-Methylcrotonyl-CoA carboxylase 1 deficiency
    MCOLN1 93.43 0 Mucolipidosis IV
    MCPH1 98.40 0 Microcephaly 1, primary, autosomal recessive
    MECP2 89.77 0 Rett syndrome
    MED12 99.82 0 Opitz-Kaveggia syndrome
    MED13L 99.52 0 Mental retardation and distinctive facial features with or without cardiac defects
    MED17 98.79 0 Microcephaly, postnatal progressive, with seizures and brain atrophy
    MED23 98.87 0 Mental retardation, autosomal recessive 18
    MEF2C 99.52 0 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
    MEIS2 99.65 0 Cleft palate, cardiac defects, and mental retardation
    METTL23 99.62 0 Mental retardation, autosomal recessive 44
    MFSD8 99.30 0 Ceroid lipofuscinosis, neuronal, 7
    MID1 97.46 0 Opitz GBBB syndrome, type I
    MKKS 99.58 0 Bardet-Biedl syndrome 6
    MKS1 99.54 0 Bardet-Biedl syndrome 13
    MLYCD 87.33 0 Malonyl-CoA decarboxylase deficiency
    MMACHC 99.68 0 Methylmalonic aciduria and homocystinuria, cblC type
    MOCS1 99.68 0 Molybdenum cofactor deficiency A
    MOCS2 99.48 0 Molybdenum cofactor deficiency B
    MOGS 92.25 0 Congenital disorder of glycosylation, type IIb
    MPDU1 99.69 0 Congenital disorder of glycosylation, type If
    MPDZ 99.22 0 Hydrocephalus, nonsyndromic, autosomal recessive 2
    MPLKIP 99.63 0 Trichothiodystrophy 4, nonphotosensitive
    MTFMT 97.00 0 Combined oxidative phosphorylation deficiency 15
    MTHFR 99.58 0 Homocystinuria due to MTHFR deficiency
    MTM1 94.11 0 Myotubular myopathy, X-linked
    MTOR 99.61 0 Smith-Kingsmore syndrome
    MTR 99.55 0 Homocystinuria-megaloblastic anemia, cblG complementation type
    MTRR 99.33 0 Homocystinuria-megaloblastic anemia, cbl E type
    MVK 99.69 0 Mevalonic aciduria
    MYCN 82.91 0 Feingold syndrome 1
    MYO5A 97.60 0 Griscelli syndrome, type 1
    MYT1L 99.59 0 Mental retardation, autosomal dominant 39
    NAA10 87.47 0 Ogden syndrome
    NACC1 99.66 0 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
    NAGA 99.67 0 Schindler disease, type I
    NAGLU 84.28 0 Mucopolysaccharidosis type IIIB (Sanfilippo B)
    NALCN 99.38 0 Congenital contractures of the limbs and face, hypotonia, and developmental delay
    NARS2 98.96 0 Combined oxidative phosphorylation deficiency 24
    NBN 98.67 0 Nijmegen breakage syndrome
    NDE1 99.69 0 Lissencephaly 4 (with microcephaly)
    NDP 99.56 0 Norrie disease
    NDST1 99.67 0 Mental retardation, autosomal recessive 46
    NDUFA1 97.69 0 Mitochondrial complex I deficiency
    NDUFA11 99.69 0 Mitochondrial complex I deficiency
    NDUFA12 99.64 0 Leigh syndrome due to mitochondrial complex 1 deficiency
    NDUFA2 99.69 0 Leigh syndrome due to mitochondrial complex I deficiency
    NDUFA9 99.27 0 Leigh syndrome due to mitochondrial complex I deficiency
    NDUFAF6 89.55 0 Leigh syndrome due to mitochondrial complex I deficiency
    NDUFS2 99.25 0 Mitochondrial complex I deficiency
    NDUFS3 99.67 0 Leigh syndrome due to mitochondrial complex I deficiency
    NDUFS4 99.05 0 Mitochondrial complex I deficiency
    NDUFS7 99.38 0 Leigh syndrome
    NEDD4L 98.92 0 Periventricular nodular heterotopia 7
    NFIA 99.44 0 Brain malformations and urinary tract defects
    NFIX 99.64 0 Sotos syndrome 2
    NGF 99.66 0 Neuropathy, hereditary sensory and autonomic, type V
    NHEJ1 99.67 0 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
    NHP2 99.64 0 Dyskeratosis congenita, autosomal recessive 2
    NHS 88.25 0 Nance-Horan syndrome
    NIN 99.20 0 Seckel syndrome 7
    NIPBL 98.53 0 Cornelia de Lange syndrome 1
    NKX2-1 92.05 0 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
    NONO 98.37 0 Mental retardation, X-linked, syndromic 34
    NOTCH1 96.74 0 Adams-Oliver syndrome 5
    NPC1 98.34 0 Niemann-Pick disease, type C1
    NPC2 99.67 0 Niemann-pick disease, type C2
    NPHP1 99.24 0 Joubert syndrome 4
    NPHP3 98.15 0 Meckel syndrome 7
    NR2F1 86.66 0 Bosch-Boonstra-Schaaf optic atrophy syndrome
    NR5A1 99.25 0 Adrenocortical insufficiency
    NRAS 99.61 0 Noonan syndrome 6
    NRXN1 99.52 0 Pitt-Hopkins-like syndrome 2
    NSD1 99.26 0 Sotos syndrome 1
    NSDHL 99.39 0 CHILD syndrome
    NSUN2 95.86 0 Mental retardation, autosomal recessive 5
    OCLN 99.47 0 Pseudo-TORCH syndrome 1
    OCRL 92.17 0 Lowe syndrome
    OFD1 92.99 0 Orofaciodigital syndrome I
    OGT 96.41 0 Mental retardation, X-linked 106
    OPHN1 90.64 0 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
    ORC1 99.49 0 Meier-Gorlin syndrome 1
    ORC4 98.60 0 Meier-Gorlin syndrome 2
    ORC6 98.10 0 Meier-Gorlin syndrome 3
    OSGEP 99.65 0 Braun et al., Nat Genet 2017 : Galloway-Mowat syndrome
    OTC 92.10 0 Ornithine transcarbamylase deficiency
    OTUD6B 97.03 0 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
    PACS1 97.17 0 Schuurs-Hoeijmakers syndrome
    PAFAH1B1 98.98 0 Lissencephaly 1
    PAH 99.66 0 Phenylketonuria
    PAK3 87.10 0 Mental retardation, X-linked 30/47
    PANK2 95.75 0 Neurodegeneration with brain iron accumulation 1
    PAX1 82.57 0 Otofaciocervical syndrome 2
    PAX3 99.68 0 Craniofacial-deafness-hand syndrome
    PAX6 99.51 0 Aniridia
    PC 99.69 0 Pyruvate carboxylase deficiency
    PCDH19 99.22 0 Epileptic encephalopathy, early infantile, 9
    PCGF2 99.69 0 Fitzgerald et al., Nature 2015 : retard mental, retard dévelopemental
    PCNT 99.50 0 Microcephalic osteodysplastic primordial dwarfism, type II
    PDE4D 97.76 0 Acrodysostosis 2, with or without hormone resistance
    PDHA1 97.16 0 Pyruvate dehydrogenase E1-alpha deficiency
    PDHB 99.40 0 Pyruvate dehydrogenase E1-beta deficiency
    PDHX 98.49 0 Lacticacidemia due to PDX1 deficiency
    PDSS1 82.84 0 Coenzyme Q10 deficiency, primary, 2
    PDSS2 98.95 0 Coenzyme Q10 deficiency, primary, 3
    PEPD 99.61 0 Prolidase deficiency
    PEX1 98.83 0 Peroxisome biogenesis disorder 1A (Zellweger)
    PEX10 83.86 0 Peroxisome biogenesis disorder 6A (Zellweger)
    PEX11B 99.63 0 Peroxisome biogenesis disorder 14B
    PEX12 99.40 0 Peroxisome biogenesis disorder 3A (Zellweger)
    PEX13 99.25 0 Peroxisome biogenesis disorder 11A (Zellweger)
    PEX14 99.66 0 Peroxisome biogenesis disorder 13A (Zellweger)
    PEX16 99.69 0 Peroxisome biogenesis disorder 8A (Zellweger)
    PEX19 99.60 0 Peroxisome biogenesis disorder 12A (Zellweger)
    PEX2 99.69 0 Peroxisome biogenesis disorder 5A (Zellweger)
    PEX26 96.96 0 Peroxisome biogenesis disorder 7A (Zellweger)
    PEX3 98.89 0 Peroxisome biogenesis disorder 10A (Zellweger)
    PEX5 99.15 0 Peroxisome biogenesis disorder 2A (Zellweger)
    PEX6 98.57 0 Peroxisome biogenesis disorder 4A (Zellweger)
    PEX7 90.36 0 Peroxisome biogenesis disorder 9B
    PGAP1 97.25 0 Mental retardation, autosomal recessive 42
    PGAP2 99.68 0 Hyperphosphatasia with mental retardation syndrome 3
    PGAP3 99.15 0 Hyperphosphatasia with mental retardation syndrome 4
    PGK1 99.16 0 Phosphoglycerate kinase 1 deficiency
    PHC1 99.66 0 Microcephaly 11, primary, autosomal recessive
    PHF6 84.23 0 Borjeson-Forssman-Lehmann syndrome
    PHF8 99.04 0 Mental retardation syndrome, X-linked, Siderius type
    PHGDH 99.67 0 Phosphoglycerate dehydrogenase deficiency
    PHIP 95.93 0 Webster et al., Cold Spring Harb Mol Case Stud. 2016 : DD, ID, obésité et dysmorphies
    PIGA 92.30 0 Multiple congenital anomalies-hypotonia-seizures syndrome 2
    PIGG 99.54 0 Mental retardation, autosomal recessive 53
    PIGL 99.59 0 CHIME syndrome
    PIGN 97.78 0 Multiple congenital anomalies-hypotonia-seizures syndrome 1
    PIGO 99.67 0 Hyperphosphatasia with mental retardation syndrome 2
    PIGT 99.63 0 Multiple congenital anomalies-hypotonia-seizures syndrome 3
    PIGV 99.66 0 Hyperphosphatasia with mental retardation syndrome 1
    PIGW 99.68 0 Hyperphosphatasia with mental retardation syndrome 5
    PIGY 99.66 0 Hyperphosphatasia with mental retardation syndrome 6
    PIK3R2 91.70 0 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
    PLA2G6 99.69 0 Neurodegeneration with brain iron accumulation 2B
    PLCB1 99.15 0 Epileptic encephalopathy, early infantile, 12
    PLCB4 99.09 0 Auriculocondylar syndrome 2
    PLOD1 98.58 0 Ehlers-Danlos syndrome, type VI
    PLP1 99.86 0 Pelizaeus-Merzbacher disease
    PMM2 98.47 0 Congenital disorder of glycosylation, type Ia
    PNKP 99.68 0 Microcephaly, seizures, and developmental delay
    PNP 99.66 0 Immunodeficiency due to purine nucleoside phosphorylase deficiency
    POC1A 99.26 0 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
    POGZ 98.81 0 White-Sutton syndrome
    POLG 99.59 0 Mitochondrial DNA depletion syndrome 4B (MNGIE type)
    POLH 99.55 0 Xeroderma pigmentosum, variant type
    POLR3A 99.40 0 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
    POLR3B 99.29 0 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
    POMGNT1 99.66 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
    POMGNT2 99.69 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
    POMK 99.66 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
    POMT1 99.56 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
    POMT2 98.42 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
    PORCN 99.91 0 Focal dermal hypoplasia
    PPM1D 98.20 0 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
    PPP1CB 99.40 0 Noonan syndrome-like disorder with loose anagen hair 2
    PPP2R1A 99.69 0 Mental retardation, autosomal dominant 36
    PPP2R5D 99.64 0 Mental retardation, autosomal dominant 35
    PPT1 99.67 0 Ceroid lipofuscinosis, neuronal, 1
    PQBP1 99.90 0 Renpenning syndrome
    PRICKLE1 99.67 0 Epilepsy, progressive myoclonic 1B
    PRMT7 99.21 0 Short stature, brachydactyly, intellectual developmental disability, and seizures
    PRPS1 98.61 0 Arts syndrome
    PRSS12 98.69 0 Mental retardation, autosomal recessive 1
    PSAP 99.68 0 Krabbe disease, atypical
    PSMD12 99.44 0 Stankiewicz-Isidor syndrome
    PTCH1 97.64 0 Holoprosencephaly 7
    PTCHD1 99.37 0 Autism, susceptibility to, X-linked 4
    PTDSS1 99.56 0 Lenz-Majewski hyperostotic dwarfism
    PTEN 98.68 0 Cowden syndrome 1
    PTPN11 97.30 0 LEOPARD syndrome 1
    PUF60 99.56 0 Verheij syndrome
    PURA 84.89 0 Mental retardation, autosomal dominant 31
    PUS1 93.31 0 Myopathy, lactic acidosis, and sideroblastic anemia 1
    PYCR1 99.67 0 Cutis laxa, autosomal recessive, type IIB
    QDPR 96.67 0 Hyperphenylalaninemia, BH4-deficient, C
    RAB18 98.43 0 Warburg micro syndrome 3
    RAB27A 95.80 0 Griscelli syndrome, type 2
    RAB39B 99.96 0 Mental retardation, X-linked 72
    RAB3GAP1 99.24 0 Warburg micro syndrome 1
    RAB3GAP2 99.14 0 Martsolf syndrome
    RAC1 87.43 0 Mental retardation, autosomal dominant 48
    RAD21 99.34 0 Cornelia de Lange syndrome 4
    RAF1 99.65 0 Noonan syndrome 5
    RAI1 97.85 0 Smith-Magenis syndrome
    RARB 99.52 0 Microphthalmia, syndromic 12
    RARS2 99.20 0 Pontocerebellar hypoplasia, type 6
    RASA2 95.15 0 Aoki et al., JHG 2016 : RASopathie
    RAX 78.51 0 Microphthalmia, isolated 3
    RBBP8 96.69 0 Seckel syndrome 2
    RBM10 99.86 0 TARP syndrome
    RBM28 99.55 0 Alopecia, neurologic defects, and endocrinopathy syndrome
    RBM8A 99.68 0 Thrombocytopenia-absent radius syndrome
    RBPJ 99.36 0 Adams-Oliver syndrome 3
    RECQL4 91.13 0 Baller-Gerold syndrome
    RELN 99.47 0 Lissencephaly 2 (Norman-Roberts type)
    RERE 99.45 0 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
    RFT1 97.48 0 Congenital disorder of glycosylation, type In
    RIT1 99.66 0 Noonan syndrome 8
    RMND1 98.79 0 Combined oxidative phosphorylation deficiency 11
    RNASEH2A 99.69 0 Aicardi-Goutieres syndrome 4
    RNASEH2B 90.13 0 Aicardi-Goutieres syndrome 2
    RNASEH2C 96.74 0 Aicardi-Goutieres syndrome 3
    RNASET2 99.45 0 Leukoencephalopathy, cystic, without megalencephaly
    RNF113A 99.85 0 Trichothiodystrophy 5, nonphotosensitive
    ROGDI 90.00 0 Kohlschutter-Tonz syndrome
    RPGRIP1L 95.44 0 Joubert syndrome 7
    RPIA 98.01 0 Ribose 5-phosphate isomerase deficiency
    RPS6KA3 85.79 0 Coffin-Lowry syndrome
    RRAS 94.39 0 Flex et al., HMG 2014 : RASopathie
    RTEL1 99.69 0 Dyskeratosis congenita, autosomal recessive 5
    RTTN 98.71 0 Microcephaly, short stature, and polymicrogyria with seizures
    SALL1 99.68 0 Townes-Brocks branchiootorenal-like syndrome
    SAMHD1 99.47 0 Aicardi-Goutieres syndrome 5
    SATB2 99.46 0 Glass syndrome
    SC5D 99.08 0 Lathosterolosis
    SCN1A 98.95 0 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
    SCN2A 98.85 0 Epileptic encephalopathy, early infantile, 11
    SCN8A 99.37 0 Epileptic encephalopathy, early infantile, 13
    SCO2 99.68 0 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
    SDCCAG8 99.19 0 Bardet-Biedl syndrome 16
    SDHAF1 66.11 0 Mitochondrial complex II deficiency
    SEPSECS 99.07 0 Pontocerebellar hypoplasia type 2D
    SERAC1 98.98 0 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
    SETBP1 98.39 0 Mental retardation, autosomal dominant 29
    SETD2 99.30 0 Luscan-Lumish syndrome
    SETD5 99.55 0 Mental retardation, autosomal dominant 23
    SGSH 96.47 0 Mucopolysaccharidosis type IIIA (Sanfilippo A)
    SHANK2 83.77 0 Autism susceptibility 17
    SHANK3 78.63 0 Phelan-McDermid syndrome
    SHH 90.25 0 Holoprosencephaly 3
    SHOC2 97.89 0 Noonan-like syndrome with loose anagen hair
    SHROOM4 99.52 0 Stocco dos Santos X-linked mental retardation syndrome
    SIL1 99.65 0 Marinesco-Sjogren syndrome
    SIN3A 99.56 0 Witteveen-Kolk syndrome
    SIX3 89.54 0 Holoprosencephaly 2
    SKI 93.23 0 Shprintzen-Goldberg syndrome
    SLC12A6 99.13 0 Agenesis of the corpus callosum with peripheral neuropathy
    SLC16A2 99.71 0 Allan-Herndon-Dudley syndrome
    SLC17A5 98.53 0 Salla disease
    SLC19A3 99.50 0 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)
    SLC1A4 97.40 0 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
    SLC25A1 86.05 0 Combined D-2- and L-2-hydroxyglutaric aciduria
    SLC25A12 99.45 0 Epileptic encephalopathy, early infantile, 39
    SLC25A15 99.57 0 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
    SLC25A19 99.66 0 Microcephaly, Amish type
    SLC25A22 99.68 0 Epileptic encephalopathy, early infantile, 3
    SLC2A1 93.34 0 GLUT1 deficiency syndrome 1, infantile onset, severe
    SLC33A1 98.70 0 Congenital cataracts, hearing loss, and neurodegeneration
    SLC35A2 99.98 0 Congenital disorder of glycosylation, type IIm
    SLC35C1 99.69 0 Congenital disorder of glycosylation, type IIc
    SLC45A1 92.61 0 Intellectual developmental disorder with neuropsychiatric features
    SLC46A1 97.75 0 Folate malabsorption, hereditary
    SLC4A4 99.23 0 Renal tubular acidosis, proximal, with ocular abnormalities
    SLC6A1 99.61 0 Myoclonic-atonic epilepsy
    SLC6A17 99.68 0 Mental retardation, autosomal recessive 48
    SLC6A3 99.68 0 Parkinsonism-dystonia, infantile
    SLC6A8 92.97 0 Cerebral creatine deficiency syndrome 1
    SLC7A7 99.67 0 Lysinuric protein intolerance
    SLC9A6 80.47 0 Mental retardation, X-linked syndromic, Christianson type
    SMARCA2 97.63 0 Nicolaides-Baraitser syndrome
    SMARCA4 99.68 0 Coffin-Siris syndrome 4
    SMARCB1 99.47 0 Coffin-Siris syndrome 3
    SMARCE1 98.87 0 Coffin-Siris syndrome 5
    SMC1A 97.41 0 Cornelia de Lange syndrome 2
    SMC3 98.62 0 Cornelia de Lange syndrome 3
    SMOC1 98.99 0 Microphthalmia with limb anomalies
    SMPD1 99.68 0 Niemann-Pick disease, type A
    SMS 83.70 0 Mental retardation, X-linked, Snyder-Robinson type
    SNAP29 98.97 0 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
    SNIP1 99.59 0 Psychomotor retardation, epilepsy, and craniofacial dysmorphism
    SNX14 97.83 0 Spinocerebellar ataxia, autosomal recessive 20
    SOBP 96.13 0 Mental retardation, anterior maxillary protrusion, and strabismus
    SON 99.42 0 ZTTK syndrome
    SOS1 98.22 0 Noonan syndrome 4
    SOS2 98.32 0 Noonan syndrome 9
    SOX10 93.26 0 Waardenburg syndrome, type 2E, with or without neurologic involvement
    SOX11 84.37 0 Mental retardation, autosomal dominant, 27
    SOX2 95.94 0 Optic nerve hypoplasia and abnormalities of the central nervous system
    SOX5 99.56 0 Lamb-Shaffer syndrome
    AFG2A 98.88 0 Epilepsy, hearing loss, and mental retardation syndrome
    SPECC1L 99.49 0 Opitz GBBB syndrome, type II
    SPR 77.10 0 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
    SPRED1 99.22 0 Legius syndrome
    SPTAN1 99.48 0 Epileptic encephalopathy, early infantile, 5
    SRCAP 99.65 0 Floating-Harbor syndrome
    SRD5A3 96.86 0 Congenital disorder of glycosylation, type Iq
    ST3GAL3 99.66 0 Mental retardation, autosomal recessive 12
    ST3GAL5 85.32 0 Salt and pepper developmental regression syndrome
    STAG1 98.01 0 Mental retardation, autosomal dominant 47
    STAMBP 99.58 0 Microcephaly-capillary malformation syndrome
    STIL 99.24 0 Microcephaly 7, primary, autosomal recessive
    STRA6 99.67 0 Microphthalmia, syndromic 9
    STT3A 99.55 0 Congenital disorder of glycosylation, type Iw
    STT3B 95.54 0 Congenital disorder of glycosylation, type Ix
    STX1B 99.68 0 Generalized epilepsy with febrile seizures plus, type 9
    STXBP1 99.55 0 Epileptic encephalopathy, early infantile, 4
    SUCLG1 98.06 0 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
    SUOX 99.68 0 Sulfite oxidase deficiency
    SURF1 86.96 0 Leigh syndrome, due to COX IV deficiency
    SYN1 88.25 0 Epilepsy, X-linked, with variable learning disabilities and behavior disorders
    SYNCRIP 99.45 0 Lelieveld et al., Nat Neurosci 2016 : ID
    SYNE1 99.44 0 Spinocerebellar ataxia, autosomal recessive 8
    SYNGAP1 99.68 0 Mental retardation, autosomal dominant 5
    SYP 93.14 0 Mental retardation, X-linked 96
    SYT14 88.69 0 Spinocerebellar ataxia, autosomal recessive 11
    TAF1 97.05 0 Mental retardation, X-linked, syndromic 33
    TAF2 98.57 0 Mental retardation, autosomal recessive 40
    TBC1D23 97.70 0 Pontocerebellar hypoplasia, type 11
    TBC1D24 99.68 0 Epileptic encephalopathy, early infantile, 16
    TBC1D7 98.94 0 Macrocephaly/megalencephaly syndrome, autosomal recessive
    TBCE 98.41 0 Hypoparathyroidism-retardation-dysmorphism syndrome
    TBCK 98.05 0 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
    TBL1XR1 98.00 0 Mental retardation, autosomal dominant 41
    TCF20 99.69 0 Schäfgen et al., EJHG 2016 : TSA, DI, croissance excessive et hypotonie
    TCF4 99.65 0 Pitt-Hopkins syndrome
    TCOF1 99.61 0 Treacher Collins syndrome 1
    TCTN1 99.08 0 Joubert syndrome 13
    TCTN2 99.05 0 Joubert syndrome 24
    TCTN3 99.61 0 Joubert syndrome 18
    TECPR2 99.41 0 Spastic paraplegia 49, autosomal recessive
    TECR 99.69 0 Mental retardation, autosomal recessive 14
    TFAP2A 99.48 0 Branchiooculofacial syndrome
    TGIF1 99.69 0 Holoprosencephaly 4
    TH 98.57 0 Segawa syndrome, recessive
    THOC2 91.08 0 Mental retardation, X-linked 12/35
    THOC6 99.66 0 Beaulieu-Boycott-Innes syndrome
    THRA 99.60 0 Hypothyroidism, congenital, nongoitrous, 6
    TIMM8A 99.66 0 Mohr-Tranebjaerg syndrome
    TINF2 99.67 0 Dyskeratosis congenita, autosomal dominant 3
    TMCO1 95.48 0 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
    TMEM107 99.69 0 Orofaciodigital syndrome XVI
    TMEM138 99.68 0 Joubert syndrome 16
    TMEM165 87.14 0 Congenital disorder of glycosylation, type IIk
    TMEM216 99.69 0 Joubert syndrome 2
    TMEM231 99.62 0 Joubert syndrome 20
    TMEM237 97.88 0 Joubert syndrome 14
    TMEM67 97.57 0 Joubert syndrome 6
    TMEM70 97.01 0 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
    TNK2 99.30 0 Hitomi et al., Ann Neurol 2013 : severe autosomal recessive infantile-onset epilepsy and ID
    TPK1 98.92 0 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
    TPP1 99.65 0 Spinocerebellar ataxia, autosomal recessive 7
    TRAPPC11 98.70 0 Muscular dystrophy, limb-girdle, type 2S
    TRAPPC9 99.57 0 Mental retardation, autosomal recessive 13
    TREX1 99.69 0 Aicardi-Goutieres syndrome 1, dominant and recessive
    TRIM32 99.68 0 Bardet-Biedl syndrome 11
    TRIO 97.17 0 Mental retardation, autosomal dominant 44
    TRIP12 99.18 0 Zhang et al., Hum Gen 2017 : intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
    TRMT10A 99.08 0 Microcephaly, short stature, and impaired glucose metabolism 1
    TRMU 94.99 0 Liver failure, transient infantile
    TRPV4 99.64 0 Spondylometaphyseal dysplasia, Kozlowski type
    TSEN2 99.60 0 Pontocerebellar hypoplasia type 2B
    TSEN54 87.28 0 Pontocerebellar hypoplasia type 2A
    TSFM 85.15 0 Combined oxidative phosphorylation deficiency 3
    TSPAN7 98.69 0 Mental retardation, X-linked 58
    SKIC3 99.17 0 Trichohepatoenteric syndrome 1
    TTC8 98.67 0 Bardet-Biedl syndrome 8
    TTI2 99.57 0 Mental retardation, autosomal recessive 39
    TUBA1A 99.69 0 Lissencephaly 3
    TUBA8 97.24 0 Cortical dysplasia, complex, with other brain malformations 8
    TUBB2A 95.11 0 Cortical dysplasia, complex, with other brain malformations 5
    TUBB2B 99.68 0 Cortical dysplasia, complex, with other brain malformations 7
    TUBB3 94.69 0 Cortical dysplasia, complex, with other brain malformations 1
    TUBB4A 98.34 0 Leukodystrophy, hypomyelinating, 6
    TUBG1 99.69 0 Cortical dysplasia, complex, with other brain malformations 4
    TUBGCP6 99.69 0 Microcephaly and chorioretinopathy, autosomal recessive, 1
    TUSC3 99.45 0 Mental retardation, autosomal recessive 7
    TWIST1 59.51 0 Saethre-Chotzen syndrome
    UBE2A 81.32 0 Mental retardation, X-linked syndromic, Nascimento-type
    UBE3A 98.84 0 Angelman syndrome
    UBE3B 99.43 0 Kaufman oculocerebrofacial syndrome
    UBR1 98.99 0 Johanson-Blizzard syndrome
    UNC80 99.46 0 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
    UPF3B 90.82 0 Mental retardation, X-linked, syndromic 14
    UQCRQ 99.62 0 Mitochondrial complex III deficiency, nuclear type 4
    UROC1 99.69 0 Urocanase deficiency
    USP18 99.69 0 Pseudo-TORCH syndrome 2
    USP9X 93.59 0 Mental retardation, X-linked 99
    VLDLR 97.10 0 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
    VPS13B 98.95 0 Cohen syndrome
    VRK1 99.08 0 Pontocerebellar hypoplasia type 1A
    WAC 97.24 0 Desanto-Shinawi syndrome
    WDPCP 98.77 0 Bardet-Biedl syndrome 15
    WDR26 99.46 0 Skraban-Deardorff syndrome
    WDR45 99.94 0 Neurodegeneration with brain iron accumulation 5
    WDR45B 98.84 0 Suleiman et al., Clin Genet 2017 : intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia
    WDR62 99.58 0 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
    WDR73 99.54 0 Galloway-Mowat syndrome
    WDR81 99.65 0 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
    WWOX 99.63 0 Epileptic encephalopathy, early infantile, 28
    XPA 95.49 0 Xeroderma pigmentosum, group A
    XPC 99.66 0 Xeroderma pigmentosum, group C
    XYLT1 91.40 0 Desbuquois dysplasia 2
    YAP1 95.59 0 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
    YY1 97.61 0 Gabriele-de Vries syndrome
    ZBTB16 99.69 0 Skeletal defects, genital hypoplasia, and mental retardation
    ZBTB18 99.10 0 Mental retardation, autosomal dominant 22
    ZBTB20 99.63 0 Primrose syndrome
    ZBTB24 99.63 0 Immunodeficiency-centromeric instability-facial anomalies syndrome-2
    ZC4H2 97.81 0 Wieacker-Wolff syndrome
    ZDHHC9 98.90 0 Mental retardation, X-linked syndromic, Raymond type
    ZEB2 99.54 0 Mowat-Wilson syndrome
    ZFYVE26 99.53 0 Spastic paraplegia 15, autosomal recessive
    ZIC2 67.20 0 Holoprosencephaly 5
    ZMPSTE24 98.68 0 Mandibuloacral dysplasia with type B lipodystrophy
    ZMYND11 99.50 0 Mental retardation, autosomal dominant 30
    ZNF335 99.63 0 Microcephaly 10, primary, autosomal recessive
    ZNF41 99.90 0 Shoichet et al., AJHG 2013 : X-Linked Mental Retardation
    ZNF711 89.61 0 Mental retardation, X-linked 97
  • Optic atrophy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACO2 99.99 1
    AFG3L2 99.97 1
    ATAD3A 99.62 1
    AUH 99.95 1
    C19ORF12 99.99 1
    CISD2 96.27 1
    DNAJC19 99.76 1
    DNAJC30 100.00 1
    DNM1L 99.40 1
    FDXR 99.99 1
    MCAT 99.99 1
    MECR 99.63 1
    MFF 99.97 1
    MFN2 99.98 1
    MTPAP 99.97 1
    MTRFR 99.87 1
    NBAS 99.86 1
    NDUFS1 99.79 1
    NDUFS2 99.66 1
    NR2F1 99.99 1
    MED12 99.95 1
    OPA3 100.00 1
    POLG 100.00 1
    RTN4IP1 99.98 1
    SLC25A46 99.88 1
    SLC44A1 99.90 1
    SLC52A2 100.00 1
    SPG7 99.99 1
    SSBP1 100.00 1
    TIMM8A 100.00 1
    TMEM126A 99.88 1
    TSFM 100.00 1
    WFS1 99.99 1
    YME1L1 99.87 1
    ZNHIT3 62.89 1