Belgian Genetic Tests database- Analytes
- CYP11A1
CYP11A1
| Name: |
cytochrome P450 family 11 subfamily A member 1
|
| Symbol: |
CYP11A1
|
| Version of Orphanet: |
2022-05-01 04:55:23
|
| Synonyms: |
P450SCC
cholesterol monooxygenase (side-chain-cleaving)
|
| XREF(s): | |
| Created: |
13 May 2019 - 01:01
|
| Changed: |
01 May 2022 - 06:55
|
-
Congenital malformation (1721 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 0.00 0 , AARS1 0.00 0 , AASS 0.00 0 , ABAT 0.00 0 , ABCA12 0.00 0 , ABCC6 0.00 0 , ABCC9 0.00 0 , ABCD1 0.00 0 , ABCD3 0.00 0 , ABCD4 0.00 0 , ABHD5 0.00 0 , ABL1 0.00 0 , ACAD9 0.00 0 , ACADVL 0.00 0 , ACAN 0.00 0 , ACE 0.00 0 , ACO2 0.00 0 , ACOX1 0.00 0 , ACP5 0.00 0 , ACSL4 0.00 0 , ACTA1 0.00 0 , ACTA2 0.00 0 , ACTB 0.00 0 , ACTC1 0.00 0 , ACTG1 0.00 0 , ACTG2 0.00 0 , ACVR1 0.00 0 , ACVR2B 0.00 0 , ACY1 0.00 0 , ADAMTS10 0.00 0 , ADAMTS17 0.00 0 , ADAMTS3 0.00 0 , ADAMTSL2 0.00 0 , ADAR 0.00 0 , ADGRG1 0.00 0 , ADGRG6 0.00 0 , ADNP 0.00 0 , ADSL 0.00 0 , AFF3 0.00 0 , AFF4 0.00 0 , AGK 0.00 0 , AGL 0.00 0 , AGPS 0.00 0 , AHCY 0.00 0 , AHDC1 0.00 0 , AHI1 0.00 0 , AIFM1 0.00 0 , AIMP1 0.00 0 , AIPL1 0.00 0 , AIRE 0.00 0 , AKR1C2 0.00 0 , AKT1 0.00 0 , AKT2 0.00 0 , AKT3 0.00 0 , ALDH18A1 0.00 0 , ALDH1A3 0.00 0 , ALDH3A2 0.00 0 , ALDH7A1 0.00 0 , ALDOA 0.00 0 , ALG1 0.00 0 , ALG11 0.00 0 , ALG12 0.00 0 , ALG13 0.00 0 , ALG2 0.00 0 , ALG3 0.00 0 , ALG6 0.00 0 , ALG8 0.00 0 , ALG9 0.00 0 , ALMS1 0.00 0 , ALOX12B 0.00 0 , ALOXE3 0.00 0 , ALPL 0.00 0 , ALX1 0.00 0 , ALX3 0.00 0 , ALX4 0.00 0 , AMACR 0.00 0 , AMBRA1 0.00 0 , AMER1 0.00 0 , AMMECR1 0.00 0 , AMPD2 0.00 0 , AMT 0.00 0 , ANAPC1 0.00 0 , ANKH 0.00 0 , ANKRD11 0.00 0 , ANKRD26 0.00 0 , ANKS6 0.00 0 , ANOS1 0.00 0 , ANTXR1 0.00 0 , ANTXR2 0.00 0 , AP1S2 0.00 0 , AP3B2 0.00 0 , AP4B1 0.00 0 , AP4E1 0.00 0 , AP4M1 0.00 0 , AP4S1 0.00 0 , AR 0.00 0 , ARCN1 0.00 0 , ARFGEF2 0.00 0 , ARHGAP29 0.00 0 , ARHGAP31 0.00 0 , ARID1A 0.00 0 , ARID1B 0.00 0 , ARID2 0.00 0 , ARL13B 0.00 0 , ARL3 0.00 0 , ARL6 0.00 0 , ODAD2 0.00 0 , ARMC9 0.00 0 , ARSA 0.00 0 , SLURP1 0.00 0 , ARSL 0.00 0 , ARVCF 0.00 0 , ARX 0.00 0 , ASAH1 0.00 0 , ASCC1 0.00 0 , ASNS 0.00 0 , ASPA 0.00 0 , ASPH 0.00 0 , ASPM 0.00 0 , ASS1 0.00 0 , ASXL1 0.00 0 , ASXL2 0.00 0 , ASXL3 0.00 0 , ATAD3A 0.00 0 , ATIC 0.00 0 , ATL1 0.00 0 , ATM 0.00 0 , ATP1A2 0.00 0 , ATP6V0A2 0.00 0 , ATP6V1B2 0.00 0 , ATP7A 0.00 0 , ATP8A2 0.00 0 , ATRX 0.00 0 , ATXN10 0.00 0 , AVIL 0.00 0 , B3GALNT2 0.00 0 , B3GALT6 0.00 0 , B3GAT3 0.00 0 , B3GLCT 0.00 0 , B4GALT1 0.00 0 , B4GALT7 0.00 0 , B4GAT1 0.00 0 , B9D1 0.00 0 , B9D2 0.00 0 , BANF1 0.00 0 , BBIP1 0.00 0 , BBS1 0.00 0 , BBS10 0.00 0 , BBS12 0.00 0 , BBS2 0.00 0 , BBS4 0.00 0 , BBS5 0.00 0 , BBS7 0.00 0 , BBS9 0.00 0 , BCAP31 0.00 0 , BCL11A 0.00 0 , BCL9L 0.00 0 , BCOR 0.00 0 , BCS1L 0.00 0 , BDNF 0.00 0 , BFSP2 0.00 0 , BGN 0.00 0 , BHLHA9 0.00 0 , BICC1 0.00 0 , BICD2 0.00 0 , BIN1 0.00 0 , BLM 0.00 0 , BLOC1S6 0.00 0 , BMP1 0.00 0 , BMP2 0.00 0 , BMP4 0.00 0 , BMPER 0.00 0 , BMPR1B 0.00 0 , BNC2 0.00 0 , BOLA3 0.00 0 , BPTF 0.00 0 , BRAF 0.00 0 , BRAT1 0.00 0 , BRCA2 0.00 0 , BRIP1 0.00 0 , BRPF1 0.00 0 , BSND 0.00 0 , BTD 0.00 0 , BUB1 0.00 0 , BUB1B 0.00 0 , BUB3 0.00 0 , C12ORF57 0.00 0 , MTRFR 0.00 0 , C1QBP 0.00 0 , MFRP 0.00 0 , C2CD3 0.00 0 , C4BPA 0.00 0 , C4BPB 0.00 0 , CFAP418 0.00 0 , CA2 0.00 0 , CA5A 0.00 0 , CA8 0.00 0 , CACNA1A 0.00 0 , CACNA1C 0.00 0 , CACNA1D 0.00 0 , CACNA1E 0.00 0 , CACNA1G 0.00 0 , CAMK2A 0.00 0 , CAMK2B 0.00 0 , CAMTA1 0.00 0 , CANT1 0.00 0 , CARS2 0.00 0 , CASK 0.00 0 , CASR 0.00 0 , CBL 0.00 0 , CC2D2A 0.00 0 , CCBE1 0.00 0 , CCDC103 0.00 0 , ODAD1 0.00 0 , ODAD3 0.00 0 , CCDC22 0.00 0 , CCDC28B 0.00 0 , CCDC39 0.00 0 , CCDC40 0.00 0 , CCDC78 0.00 0 , CCDC8 0.00 0 , CCDC88C 0.00 0 , CCM2 0.00 0 , CCND2 0.00 0 , CCNQ 0.00 0 , CD151 0.00 0 , CD55 0.00 0 , CD96 0.00 0 , CDAN1 0.00 0 , CDC45 0.00 0 , CDC6 0.00 0 , CDC73 0.00 0 , CDH1 0.00 0 , CDH11 0.00 0 , CDH3 0.00 0 , CDK13 0.00 0 , CDK5RAP2 0.00 0 , CDK8 0.00 0 , CDKL5 0.00 0 , CDKN1C 0.00 0 , CDON 0.00 0 , CDT1 0.00 0 , CELSR1 0.00 0 , CENPF 0.00 0 , CENPJ 0.00 0 , CEP104 0.00 0 , CEP120 0.00 0 , CEP135 0.00 0 , CEP152 0.00 0 , CEP164 0.00 0 , CEP290 0.00 0 , CEP41 0.00 0 , CEP55 0.00 0 , CEP57 0.00 0 , CEP63 0.00 0 , CEP83 0.00 0 , CERS3 0.00 0 , CERT1 0.00 0 , CFAP298 0.00 0 , CFAP300 0.00 0 , CFAP410 0.00 0 , CFAP53 0.00 0 , CFC1 0.00 0 , CFHR2 0.00 0 , CFL2 0.00 0 , CFTR 0.00 0 , CHAMP1 0.00 0 , CHAT 0.00 0 , CHD3 0.00 0 , CHD4 0.00 0 , CHD7 0.00 0 , CHD8 0.00 0 , CHKB 0.00 0 , CHMP1A 0.00 0 , CHN1 0.00 0 , CHRNA1 0.00 0 , CHRNA3 0.00 0 , CHRNB1 0.00 0 , CHRNB2 0.00 0 , CHRND 0.00 0 , CHRNE 0.00 0 , CHRNG 0.00 0 , CHST11 0.00 0 , CHST14 0.00 0 , CHST3 0.00 0 , CHSY1 0.00 0 , CHUK 0.00 0 , CILK1 0.00 0 , CIT 0.00 0 , CKAP2L 0.00 0 , CLCN7 0.00 0 , CLCNKB 0.00 0 , CLDN10 0.00 0 , CLMP 0.00 0 , CLP1 0.00 0 , CLPB 0.00 0 , CLPP 0.00 0 , CLTC 0.00 0 , CNKSR2 0.00 0 , CNOT1 0.00 0 , CNOT3 0.00 0 , CNTN1 0.00 0 , CNTNAP1 0.00 0 , CNTNAP2 0.00 0 , COASY 0.00 0 , COG1 0.00 0 , COG4 0.00 0 , COG5 0.00 0 , COG6 0.00 0 , COG7 0.00 0 , COG8 0.00 0 , COL10A1 0.00 0 , COL11A1 0.00 0 , COL11A2 0.00 0 , COL12A1 0.00 0 , COL13A1 0.00 0 , COL18A1 0.00 0 , COL1A1 0.00 0 , COL1A2 0.00 0 , COL25A1 0.00 0 , COL2A1 0.00 0 , COL3A1 0.00 0 , COL4A1 0.00 0 , COL4A2 0.00 0 , COL5A1 0.00 0 , COL5A2 0.00 0 , COL6A1 0.00 0 , COL6A2 0.00 0 , COL6A3 0.00 0 , COL7A1 0.00 0 , COL9A1 0.00 0 , COL9A2 0.00 0 , COLEC10 0.00 0 , COLEC11 0.00 0 , COLQ 0.00 0 , COMT 0.00 0 , COQ4 0.00 0 , COQ7 0.00 0 , COQ9 0.00 0 , COX7B 0.00 0 , CPAMD8 0.00 0 , CPLANE1 0.00 0 , CPT2 0.00 0 , CRADD 0.00 0 , CRB1 0.00 0 , CRB2 0.00 0 , CREB3L1 0.00 0 , CREBBP 0.00 0 , CRELD1 0.00 0 , CRH 0.00 0 , CRIPT 0.00 0 , CRLF1 0.00 0 , CRPPA 0.00 0 , CRTAP 0.00 0 , CRX 0.00 0 , CRYAA 0.00 0 , CRYBA1 0.00 0 , CRYBA4 0.00 0 , CRYBB1 0.00 0 , CRYBB2 0.00 0 , CRYBB3 0.00 0 , CRYGC 0.00 0 , CRYGD 0.00 0 , CSF1R 0.00 0 , CSNK2A1 0.00 0 , CSPP1 0.00 0 , CSTA 0.00 0 , CTC1 0.00 0 , CTCF 0.00 0 , CTDP1 0.00 0 , CTNNB1 0.00 0 , CTNND1 0.00 0 , CTNS 0.00 0 , CTSA 0.00 0 , CTSD 0.00 0 , CTSK 0.00 0 , CTU2 0.00 0 , CUL4B 0.00 0 , CUL7 0.00 0 , CUX2 0.00 0 , CWC27 0.00 0 , CXCR4 0.00 0 , CYB5R3 0.00 0 , CYP11A1 0.00 0 , CYP11B1 0.00 0 , CYP17A1 0.00 0 , CYP19A1 0.00 0 , CYP1B1 0.00 0 , CYP21A2 0.00 0 , CYP26B1 0.00 0 , CYP2U1 0.00 0 , CYP4F22 0.00 0 , DACH1 0.00 0 , DAG1 0.00 0 , DARS1 0.00 0 , DCC 0.00 0 , DCDC2 0.00 0 , DCHS1 0.00 0 , DCX 0.00 0 , DDHD2 0.00 0 , DDR2 0.00 0 , DDX11 0.00 0 , DDX3X 0.00 0 , DDX59 0.00 0 , DDX6 0.00 0 , DENND5A 0.00 0 , DHCR24 0.00 0 , DHCR7 0.00 0 , DHDDS 0.00 0 , DHFR 0.00 0 , DHH 0.00 0 , DHODH 0.00 0 , DHTKD1 0.00 0 , DHX30 0.00 0 , DIAPH1 0.00 0 , DIS3L2 0.00 0 , DISP1 0.00 0 , DKC1 0.00 0 , DLG4 0.00 0 , DLL3 0.00 0 , DLL4 0.00 0 , DLX5 0.00 0 , DMD 0.00 0 , DMPK 0.00 0 , DNAAF1 0.00 0 , DNAAF2 0.00 0 , DNAAF3 0.00 0 , DNAAF4 0.00 0 , DNAAF5 0.00 0 , DNAH11 0.00 0 , DNAH5 0.00 0 , DNAH9 0.00 0 , DNAI1 0.00 0 , DNAI2 0.00 0 , DNAJB11 0.00 0 , DNAJC12 0.00 0 , DNAJC19 0.00 0 , DNM1 0.00 0 , DNM1L 0.00 0 , DNM2 0.00 0 , DNMT3A 0.00 0 , DNMT3B 0.00 0 , DOCK6 0.00 0 , DOCK7 0.00 0 , DOK7 0.00 0 , DOLK 0.00 0 , DONSON 0.00 0 , DPAGT1 0.00 0 , DPF2 0.00 0 , DPH1 0.00 0 , DPM1 0.00 0 , DPM2 0.00 0 , DPM3 0.00 0 , DPYD 0.00 0 , DRC1 0.00 0 , DSG1 0.00 0 , DSP 0.00 0 , DSTYK 0.00 0 , DUSP6 0.00 0 , DVL1 0.00 0 , DVL3 0.00 0 , DYM 0.00 0 , DYNC1H1 0.00 0 , DYNC2H1 0.00 0 , DYNC2LI1 0.00 0 , DYRK1A 0.00 0 , DZIP1L 0.00 0 , EARS2 0.00 0 , EBF3 0.00 0 , GLB1 0.00 0 , ECEL1 0.00 0 , EDA 0.00 0 , EDN1 0.00 0 , EDNRA 0.00 0 , EDNRB 0.00 0 , EED 0.00 0 , EEF1A2 0.00 0 , EFL1 0.00 0 , EFNB1 0.00 0 , EFTUD2 0.00 0 , EGR2 0.00 0 , EHBP1L1 0.00 0 , EHHADH 0.00 0 , EHMT1 0.00 0 , EIF2AK3 0.00 0 , EIF2B2 0.00 0 , EIF2B3 0.00 0 , EIF2S3 0.00 0 , EIF4A3 0.00 0 , EIF5A 0.00 0 , ELAC2 0.00 0 , ELMO2 0.00 0 , ELN 0.00 0 , ELOVL4 0.00 0 , EMC1 0.00 0 , EMD 0.00 0 , EMG1 0.00 0 , EML1 0.00 0 , EMX2 0.00 0 , ENPP1 0.00 0 , EOGT 0.00 0 , EP300 0.00 0 , EPG5 0.00 0 , EPHB4 0.00 0 , EPHX1 0.00 0 , ERBB3 0.00 0 , ERCC1 0.00 0 , ERCC2 0.00 0 , ERCC3 0.00 0 , ERCC4 0.00 0 , ERCC5 0.00 0 , ERCC6 0.00 0 , ERCC8 0.00 0 , ERF 0.00 0 , ERGIC1 0.00 0 , ERLIN2 0.00 0 , ESCO2 0.00 0 , ESRRG 0.00 0 , ETFA 0.00 0 , ETFB 0.00 0 , ETFDH 0.00 0 , EVC 0.00 0 , EVC2 0.00 0 , EXOC3L2 0.00 0 , EXOSC3 0.00 0 , EXPH5 0.00 0 , EXT1 0.00 0 , EXT2 0.00 0 , EXTL3 0.00 0 , EYA1 0.00 0 , EZH2 0.00 0 , FA2H 0.00 0 , FANCA 0.00 0 , FAM111A 0.00 0 , FAM126A 0.00 0 , FAM20A 0.00 0 , FAM20C 0.00 0 , FANCB 0.00 0 , FANCC 0.00 0 , FANCD2 0.00 0 , FANCE 0.00 0 , FANCF 0.00 0 , FANCG 0.00 0 , FANCI 0.00 0 , FANCL 0.00 0 , FANCM 0.00 0 , FAR1 0.00 0 , FAT4 0.00 0 , FBLN5 0.00 0 , FBN1 0.00 0 , FBN2 0.00 0 , FBXL4 0.00 0 , FEZF1 0.00 0 , FGD1 0.00 0 , FGF10 0.00 0 , FGF17 0.00 0 , FGF3 0.00 0 , FGF8 0.00 0 , FGF9 0.00 0 , FGFR1 0.00 0 , FGFR2 0.00 0 , FGFR3 0.00 0 , FGG 0.00 0 , FH 0.00 0 , FIG4 0.00 0 , FKBP10 0.00 0 , FKBP14 0.00 0 , FKBP8 0.00 0 , FKRP 0.00 0 , FKTN 0.00 0 , FLNA 0.00 0 , FLNB 0.00 0 , FLNC 0.00 0 , FLRT3 0.00 0 , FLT4 0.00 0 , FLVCR2 0.00 0 , FMN2 0.00 0 , FN1 0.00 0 , FOLR1 0.00 0 , FOXC1 0.00 0 , FOXC2 0.00 0 , FOXE1 0.00 0 , FOXE3 0.00 0 , FOXF1 0.00 0 , FOXG1 0.00 0 , FOXL2 0.00 0 , FOXP2 0.00 0 , FOXP3 0.00 0 , FOXP4 0.00 0 , FOXRED1 0.00 0 , FRAS1 0.00 0 , FREM1 0.00 0 , FREM2 0.00 0 , FRMD4A 0.00 0 , FRMPD4 0.00 0 , FRRS1L 0.00 0 , FTL 0.00 0 , FTO 0.00 0 , FUCA1 0.00 0 , FUT8 0.00 0 , FUZ 0.00 0 , FYCO1 0.00 0 , FZD2 0.00 0 , FZD5 0.00 0 , G6PC3 0.00 0 , GAA 0.00 0 , GABRA1 0.00 0 , GABRB2 0.00 0 , GABRG2 0.00 0 , GALC 0.00 0 , GALE 0.00 0 , GALK1 0.00 0 , GALNS 0.00 0 , GALNT2 0.00 0 , GANAB 0.00 0 , GATA1 0.00 0 , GATA2 0.00 0 , GATA3 0.00 0 , GATA4 0.00 0 , GATA6 0.00 0 , GBA 0.00 0 , GBA2 0.00 0 , GBE1 0.00 0 , GCDH 0.00 0 , GCSH 0.00 0 , GDF1 0.00 0 , GDF3 0.00 0 , GDF5 0.00 0 , GDF6 0.00 0 , GFAP 0.00 0 , GFM1 0.00 0 , GFPT1 0.00 0 , GFRA1 0.00 0 , GJA1 0.00 0 , GJA3 0.00 0 , GJA8 0.00 0 , GJB2 0.00 0 , GJC2 0.00 0 , GLA 0.00 0 , GLDC 0.00 0 , GLDN 0.00 0 , GLE1 0.00 0 , GLI1 0.00 0 , GLI2 0.00 0 , GLI3 0.00 0 , GLIS2 0.00 0 , GLIS3 0.00 0 , GLUL 0.00 0 , GM2A 0.00 0 , GMNN 0.00 0 , GMPPB 0.00 0 , GNA11 0.00 0 , GNA14 0.00 0 , GNAI1 0.00 0 , GNAI3 0.00 0 , GNAO1 0.00 0 , GNAQ 0.00 0 , GNAS 0.00 0 , GNB1 0.00 0 , GNB5 0.00 0 , GNPAT 0.00 0 , GNPTAB 0.00 0 , GNPTG 0.00 0 , GNS 0.00 0 , GORAB 0.00 0 , GP1BB 0.00 0 , GPAA1 0.00 0 , GPC3 0.00 0 , GPC6 0.00 0 , GPI 0.00 0 , GPKOW 0.00 0 , GPSM2 0.00 0 , GPX4 0.00 0 , GREB1L 0.00 0 , GRHL2 0.00 0 , GRHL3 0.00 0 , GRIN1 0.00 0 , GRIN2B 0.00 0 , GRIN2D 0.00 0 , GRIP1 0.00 0 , GRM1 0.00 0 , GSC 0.00 0 , GSPT2 0.00 0 , GTF2E2 0.00 0 , GTF2H5 0.00 0 , GTPBP3 0.00 0 , GUCY2C 0.00 0 , GUCY2D 0.00 0 , GUSB 0.00 0 , GZF1 0.00 0 , H1-4 0.00 0 , H4C3 0.00 0 , HAAO 0.00 0 , HADHA 0.00 0 , HADHB 0.00 0 , HBA1 0.00 0 , HBA2 0.00 0 , HCCS 0.00 0 , HCFC1 0.00 0 , HDAC8 0.00 0 , HES7 0.00 0 , HESX1 0.00 0 , HGSNAT 0.00 0 , HIBCH 0.00 0 , HIRA 0.00 0 , HIVEP2 0.00 0 , HLX 0.00 0 , HMGA2 0.00 0 , HMX1 0.00 0 , HNF1B 0.00 0 , HNF4A 0.00 0 , HNRNPH2 0.00 0 , HNRNPK 0.00 0 , HOXA1 0.00 0 , HOXA11 0.00 0 , HOXA13 0.00 0 , HOXA2 0.00 0 , HOXB1 0.00 0 , HOXD13 0.00 0 , HPD 0.00 0 , HPGD 0.00 0 , HPSE2 0.00 0 , HR 0.00 0 , HRAS 0.00 0 , HS6ST1 0.00 0 , HSD17B3 0.00 0 , HSD17B4 0.00 0 , HSF4 0.00 0 , HSPD1 0.00 0 , HSPG2 0.00 0 , HUWE1 0.00 0 , HYAL1 0.00 0 , HYLS1 0.00 0 , IARS1 0.00 0 , IBA57 0.00 0 , IDH1 0.00 0 , IDS 0.00 0 , IDUA 0.00 0 , IER3IP1 0.00 0 , IFIH1 0.00 0 , IFITM5 0.00 0 , IFT122 0.00 0 , IFT140 0.00 0 , IFT172 0.00 0 , IFT27 0.00 0 , IFT43 0.00 0 , IFT52 0.00 0 , IFT80 0.00 0 , IFT81 0.00 0 , IFT88 0.00 0 , IGBP1 0.00 0 , IGF1 0.00 0 , IGF1R 0.00 0 , IGF2 0.00 0 , IGFBP7 0.00 0 , IGHMBP2 0.00 0 , IHH 0.00 0 , IKBKG 0.00 0 , IL11RA 0.00 0 , IL17RD 0.00 0 , IL1RAPL1 0.00 0 , BPNT2 0.00 0 , IMPDH1 0.00 0 , INCENP 0.00 0 , INPP5B 0.00 0 , INPP5E 0.00 0 , INPP5K 0.00 0 , INPPL1 0.00 0 , INSR 0.00 0 , INTU 0.00 0 , INVS 0.00 0 , IQCB1 0.00 0 , IRF6 0.00 0 , IRX1 0.00 0 , IRX5 0.00 0 , ITCH 0.00 0 , ITGA3 0.00 0 , ITGA6 0.00 0 , ITGA8 0.00 0 , ITGB4 0.00 0 , ITPR1 0.00 0 , JAG1 0.00 0 , JAM3 0.00 0 , JUP 0.00 0 , KANSL1 0.00 0 , KAT6A 0.00 0 , KAT6B 0.00 0 , KATNB1 0.00 0 , KCNA1 0.00 0 , KCNC3 0.00 0 , KCNH1 0.00 0 , KCNJ1 0.00 0 , KCNJ13 0.00 0 , KCNJ2 0.00 0 , KCNJ6 0.00 0 , KCNJ8 0.00 0 , KCNK9 0.00 0 , KCNQ2 0.00 0 , KCNQ5 0.00 0 , KCNT1 0.00 0 , KCTD1 0.00 0 , KCTD7 0.00 0 , KDM1A 0.00 0 , KDM5C 0.00 0 , KDM6A 0.00 0 , KATNIP 0.00 0 , KIAA0586 0.00 0 , KIAA0753 0.00 0 , KIAA1109 0.00 0 , KIDINS220 0.00 0 , KIF11 0.00 0 , KIF14 0.00 0 , KIF1A 0.00 0 , KIF22 0.00 0 , KIF26B 0.00 0 , KIF2A 0.00 0 , KIF5C 0.00 0 , KIF7 0.00 0 , KIFBP 0.00 0 , KISS1R 0.00 0 , KLF1 0.00 0 , KLHL40 0.00 0 , KLHL41 0.00 0 , KLHL7 0.00 0 , KMT2A 0.00 0 , KMT2B 0.00 0 , KMT2C 0.00 0 , KMT2D 0.00 0 , KNL1 0.00 0 , KPTN 0.00 0 , KRAS 0.00 0 , KRIT1 0.00 0 , KRT74 0.00 0 , KYNU 0.00 0 , L1CAM 0.00 0 , L2HGDH 0.00 0 , LAGE3 0.00 0 , LAMA1 0.00 0 , LAMA2 0.00 0 , LAMA5 0.00 0 , LAMB1 0.00 0 , LAMC3 0.00 0 , LARGE1 0.00 0 , LARP7 0.00 0 , LARS2 0.00 0 , LBR 0.00 0 , LCA5 0.00 0 , LEMD3 0.00 0 , LFNG 0.00 0 , LGI4 0.00 0 , LHB 0.00 0 , LHX3 0.00 0 , LHX4 0.00 0 , LIAS 0.00 0 , LIFR 0.00 0 , LIG4 0.00 0 , LINS1 0.00 0 , LIPA 0.00 0 , LIPN 0.00 0 , LIPT1 0.00 0 , LIPT2 0.00 0 , LMBR1 0.00 0 , LMBRD1 0.00 0 , LMNA 0.00 0 , LMNB1 0.00 0 , LMNB2 0.00 0 , LMOD3 0.00 0 , LMX1B 0.00 0 , LONP1 0.00 0 , LRAT 0.00 0 , LRBA 0.00 0 , LRIG2 0.00 0 , LRIT3 0.00 0 , LRP2 0.00 0 , CORIN 0.00 0 , LRP5 0.00 0 , LRRC56 0.00 0 , DNAAF11 0.00 0 , LTBP3 0.00 0 , LTBP4 0.00 0 , LYST 0.00 0 , LZTFL1 0.00 0 , LZTR1 0.00 0 , MAB21L2 0.00 0 , MACF1 0.00 0 , MAF 0.00 0 , MAFB 0.00 0 , MAGEL2 0.00 0 , MAMLD1 0.00 0 , MAN1B1 0.00 0 , MANBA 0.00 0 , MAP2K1 0.00 0 , MAP2K2 0.00 0 , MAP3K1 0.00 0 , MAP3K20 0.00 0 , MAP3K7 0.00 0 , MAPKBP1 0.00 0 , MAPRE2 0.00 0 , MASP1 0.00 0 , MAT1A 0.00 0 , MATN3 0.00 0 , MBOAT7 0.00 0 , MBTPS2 0.00 0 , MCOLN1 0.00 0 , MCPH1 0.00 0 , MDH2 0.00 0 , MECOM 0.00 0 , MECP2 0.00 0 , MECR 0.00 0 , MED12 0.00 0 , MED13L 0.00 0 , MED17 0.00 0 , MED28 0.00 0 , MEF2C 0.00 0 , MEGF10 0.00 0 , MEGF8 0.00 0 , MEIS2 0.00 0 , MEOX1 0.00 0 , MESD 0.00 0 , MESP2 0.00 0 , MFSD2A 0.00 0 , MGP 0.00 0 , MID1 0.00 0 , MIPOL1 0.00 0 , MITF 0.00 0 , MKKS 0.00 0 , MKS1 0.00 0 , MLC1 0.00 0 , MLH1 0.00 0 , MLYCD 0.00 0 , MMACHC 0.00 0 , MMADHC 0.00 0 , MMP13 0.00 0 , MMP15 0.00 0 , MMP21 0.00 0 , MN1 0.00 0 , MNX1 0.00 0 , MOCOS 0.00 0 , MOCS1 0.00 0 , MOCS2 0.00 0 , MOGS 0.00 0 , MPDU1 0.00 0 , MPDZ 0.00 0 , MPL 0.00 0 , MPLKIP 0.00 0 , MPZ 0.00 0 , MRAS 0.00 0 , MRPS16 0.00 0 , MRPS22 0.00 0 , MRPS34 0.00 0 , MSH2 0.00 0 , MSH6 0.00 0 , MSL3 0.00 0 , MSMO1 0.00 0 , MSTO1 0.00 0 , MSX1 0.00 0 , MSX2 0.00 0 , MTM1 0.00 0 , MTO1 0.00 0 , MTOR 0.00 0 , MUSK 0.00 0 , MVK 0.00 0 , MYBPC1 0.00 0 , MYCN 0.00 0 , MYH10 0.00 0 , MYH11 0.00 0 , MYH2 0.00 0 , MYH3 0.00 0 , MYH6 0.00 0 , MYH7 0.00 0 , MYH8 0.00 0 , MYH9 0.00 0 , MYL1 0.00 0 , MYL9 0.00 0 , MYLK 0.00 0 , MYMK 0.00 0 , MYO18B 0.00 0 , MYO9A 0.00 0 , MYOCD 0.00 0 , MYOD1 0.00 0 , MYPN 0.00 0 , MYRF 0.00 0 , MYT1 0.00 0 , NAA10 0.00 0 , NAA15 0.00 0 , NACC1 0.00 0 , NADSYN1 0.00 0 , NAGA 0.00 0 , NAGLU 0.00 0 , NALCN 0.00 0 , NANS 0.00 0 , NAXE 0.00 0 , NBAS 0.00 0 , NBN 0.00 0 , NDE1 0.00 0 , NDP 0.00 0 , NDUFA10 0.00 0 , NDUFAF2 0.00 0 , NDUFAF5 0.00 0 , NDUFB11 0.00 0 , NEB 0.00 0 , NECTIN1 0.00 0 , NECTIN4 0.00 0 , NEDD4L 0.00 0 , NEK1 0.00 0 , NEK9 0.00 0 , NEU1 0.00 0 , NEXMIF 0.00 0 , NF1 0.00 0 , NFIX 0.00 0 , NHEJ1 0.00 0 , NHP2 0.00 0 , NHS 0.00 0 , NIN 0.00 0 , NIPAL4 0.00 0 , NIPBL 0.00 0 , NKX2-5 0.00 0 , NKX3-2 0.00 0 , NKX6-2 0.00 0 , NLRC4 0.00 0 , RMRP 0.00 0 , NMNAT1 0.00 0 , NMNAT2 0.00 0 , NODAL 0.00 0 , NOG 0.00 0 , NONO 0.00 0 , NOTCH1 0.00 0 , NOTCH2 0.00 0 , NOVA2 0.00 0 , NPC1 0.00 0 , NPC2 0.00 0 , NPHP1 0.00 0 , NPHP3 0.00 0 , NPHP4 0.00 0 , NPHS1 0.00 0 , NPRL2 0.00 0 , NR0B1 0.00 0 , NR2F2 0.00 0 , NR5A1 0.00 0 , NRAS 0.00 0 , NRXN2 0.00 0 , NSD1 0.00 0 , NSDHL 0.00 0 , NSMF 0.00 0 , NSUN2 0.00 0 , NT5C2 0.00 0 , NTRK2 0.00 0 , NUAK2 0.00 0 , NUBPL 0.00 0 , NUP107 0.00 0 , NUP62 0.00 0 , NUP88 0.00 0 , NUS1 0.00 0 , NXN 0.00 0 , OBSL1 0.00 0 , OCLN 0.00 0 , OCRL 0.00 0 , ODC1 0.00 0 , OFD1 0.00 0 , OPHN1 0.00 0 , SLC25A15 0.00 0 , ORC4 0.00 0 , ORC6 0.00 0 , OSGEP 0.00 0 , OSTM1 0.00 0 , OTUD5 0.00 0 , OTUD6B 0.00 0 , OTX2 0.00 0 , P3H1 0.00 0 , P4HB 0.00 0 , PACS1 0.00 0 , PAFAH1B1 0.00 0 , PAICS 0.00 0 , PAK3 0.00 0 , PALB2 0.00 0 , PAPSS2 0.00 0 , PARN 0.00 0 , PAX2 0.00 0 , PAX3 0.00 0 , PAX6 0.00 0 , PAX7 0.00 0 , PAX8 0.00 0 , PBX1 0.00 0 , PCGF2 0.00 0 , PCNT 0.00 0 , PCYT1A 0.00 0 , PDCD10 0.00 0 , PDE10A 0.00 0 , PDE4D 0.00 0 , PDE6D 0.00 0 , PDE6H 0.00 0 , PDGFB 0.00 0 , PDGFRB 0.00 0 , PDHA1 0.00 0 , PDHB 0.00 0 , PDHX 0.00 0 , PDSS1 0.00 0 , PDYN 0.00 0 , PEPD 0.00 0 , PET100 0.00 0 , PEX1 0.00 0 , PEX10 0.00 0 , PEX11B 0.00 0 , PEX12 0.00 0 , PEX13 0.00 0 , PEX14 0.00 0 , PEX16 0.00 0 , PEX19 0.00 0 , PEX2 0.00 0 , PEX26 0.00 0 , PEX3 0.00 0 , PEX5 0.00 0 , PEX6 0.00 0 , PEX7 0.00 0 , PFKM 0.00 0 , PGAP1 0.00 0 , PGAP2 0.00 0 , PGAP3 0.00 0 , PGM1 0.00 0 , PGM3 0.00 0 , PHF21A 0.00 0 , PHF6 0.00 0 , PHF8 0.00 0 , PHGDH 0.00 0 , PHIP 0.00 0 , PHOX2B 0.00 0 , PIBF1 0.00 0 , PIEZO1 0.00 0 , PIEZO2 0.00 0 , PIGA 0.00 0 , PIGG 0.00 0 , PIGL 0.00 0 , PIGN 0.00 0 , PIGO 0.00 0 , PIGS 0.00 0 , PIGT 0.00 0 , PIGV 0.00 0 , PIGY 0.00 0 , DNAAF6 0.00 0 , PIK3C2A 0.00 0 , PIK3CA 0.00 0 , PIK3R1 0.00 0 , PIK3R2 0.00 0 , PIP5K1C 0.00 0 , PITX1 0.00 0 , PITX2 0.00 0 , PITX3 0.00 0 , PKD1 0.00 0 , PKD1L1 0.00 0 , PKD2 0.00 0 , PKHD1 0.00 0 , PKLR 0.00 0 , PLAA 0.00 0 , PLAG1 0.00 0 , PLCB1 0.00 0 , PLCB4 0.00 0 , PRKCSH 0.00 0 , PLEC 0.00 0 , PLG 0.00 0 , PLK4 0.00 0 , PLOD1 0.00 0 , PLOD2 0.00 0 , PLOD3 0.00 0 , PLP1 0.00 0 , PLPBP 0.00 0 , PMM2 0.00 0 , PMP22 0.00 0 , PMS2 0.00 0 , PNKP 0.00 0 , PNPLA1 0.00 0 , POC1A 0.00 0 , POGZ 0.00 0 , POLE 0.00 0 , POLG2 0.00 0 , POLR1A 0.00 0 , POLR1B 0.00 0 , POLR1C 0.00 0 , POLR1D 0.00 0 , POLR3A 0.00 0 , POLR3B 0.00 0 , POMGNT1 0.00 0 , POMGNT2 0.00 0 , POMK 0.00 0 , POMT1 0.00 0 , POMT2 0.00 0 , BVES 0.00 0 , PORCN 0.00 0 , POU1F1 0.00 0 , PPIB 0.00 0 , PPP1CB 0.00 0 , PPP2R1A 0.00 0 , PPP2R5D 0.00 0 , PPP3CA 0.00 0 , PQBP1 0.00 0 , PRDM5 0.00 0 , PREPL 0.00 0 , PRG4 0.00 0 , PRIM1 0.00 0 , PRKAG2 0.00 0 , PRKAR1A 0.00 0 , PRKD1 0.00 0 , PRMT7 0.00 0 , PROK2 0.00 0 , PROKR2 0.00 0 , PROP1 0.00 0 , PRR12 0.00 0 , PRRX1 0.00 0 , PRSS56 0.00 0 , PRUNE1 0.00 0 , PRX 0.00 0 , PSAP 0.00 0 , PSAT1 0.00 0 , PSPH 0.00 0 , PTCH1 0.00 0 , PTCH2 0.00 0 , PTDSS1 0.00 0 , PTEN 0.00 0 , PTF1A 0.00 0 , PTH 0.00 0 , PTH1R 0.00 0 , PTHLH 0.00 0 , PTPN11 0.00 0 , PTPN14 0.00 0 , PTS 0.00 0 , PUF60 0.00 0 , PXDN 0.00 0 , PYCR1 0.00 0 , PYCR2 0.00 0 , PYGM 0.00 0 , PYROXD1 0.00 0 , QARS1 0.00 0 , QRICH1 0.00 0 , RAB11A 0.00 0 , RAB11B 0.00 0 , RAB18 0.00 0 , RAB23 0.00 0 , RAB33B 0.00 0 , RAB3GAP1 0.00 0 , RAB3GAP2 0.00 0 , RAB40AL 0.00 0 , RAC1 0.00 0 , NCOA3 0.00 0 , RAD21 0.00 0 , RAD51 0.00 0 , RAD51C 0.00 0 , RAF1 0.00 0 , RAI1 0.00 0 , RAPSN 0.00 0 , RARB 0.00 0 , RARS2 0.00 0 , RASA1 0.00 0 , PRKRA 0.00 0 , RB1 0.00 0 , RBBP8 0.00 0 , RBM10 0.00 0 , RBM8A 0.00 0 , RBPJ 0.00 0 , RCOR1 0.00 0 , RD3 0.00 0 , RDH12 0.00 0 , RECQL4 0.00 0 , RELN 0.00 0 , REN 0.00 0 , RERE 0.00 0 , RET 0.00 0 , RFT1 0.00 0 , RFX6 0.00 0 , RIN2 0.00 0 , RIPK4 0.00 0 , RIT1 0.00 0 , RLIM 0.00 0 , RMND1 0.00 0 , RNASEH2A 0.00 0 , RNASEH2B 0.00 0 , RNASEH2C 0.00 0 , RNASET2 0.00 0 , ROBO1 0.00 0 , ROBO3 0.00 0 , ROGDI 0.00 0 , ROR2 0.00 0 , RORA 0.00 0 , RPE65 0.00 0 , RPGRIP1 0.00 0 , RPGRIP1L 0.00 0 , RPL15 0.00 0 , RPL11 0.00 0 , RPL26 0.00 0 , RPL35A 0.00 0 , RPL5 0.00 0 , RPS10 0.00 0 , RPS17 0.00 0 , RPS19 0.00 0 , RPS23 0.00 0 , RPS24 0.00 0 , RPS26 0.00 0 , RPS6KA3 0.00 0 , RPS7 0.00 0 , RRAS 0.00 0 , RRAS2 0.00 0 , RRM2B 0.00 0 , RSPH4A 0.00 0 , RSPH9 0.00 0 , RSPRY1 0.00 0 , RTEL1 0.00 0 , RTTN 0.00 0 , RUNX2 0.00 0 , RXYLT1 0.00 0 , RYR1 0.00 0 , SACS 0.00 0 , SALL1 0.00 0 , SALL4 0.00 0 , SAMD9 0.00 0 , SAMHD1 0.00 0 , SASS6 0.00 0 , SATB2 0.00 0 , SBDS 0.00 0 , SC5D 0.00 0 , SCARF2 0.00 0 , SCLT1 0.00 0 , SCN1A 0.00 0 , SCN2A 0.00 0 , SCN3A 0.00 0 , SCN4A 0.00 0 , SCO2 0.00 0 , SCUBE3 0.00 0 , SCYL1 0.00 0 , SDCCAG8 0.00 0 , SDR9C7 0.00 0 , SEC23A 0.00 0 , SEC23B 0.00 0 , SEC24D 0.00 0 , SEC61B 0.00 0 , SECISBP2 0.00 0 , SELENON 0.00 0 , SEMA3A 0.00 0 , SEMA3E 0.00 0 , SEPSECS 0.00 0 , SEPTIN9 0.00 0 , SERPINF1 0.00 0 , SERPINH1 0.00 0 , SET 0.00 0 , SETBP1 0.00 0 , SETD1A 0.00 0 , SETD1B 0.00 0 , SETD2 0.00 0 , SETD5 0.00 0 , SF3B4 0.00 0 , SGCG 0.00 0 , SGPL1 0.00 0 , SGSH 0.00 0 , SH3PXD2B 0.00 0 , SHANK1 0.00 0 , SHANK2 0.00 0 , SHANK3 0.00 0 , SHH 0.00 0 , SHOC2 0.00 0 , SHOX 0.00 0 , SHROOM3 0.00 0 , SIK3 0.00 0 , SIL1 0.00 0 , SIN3A 0.00 0 , SIX1 0.00 0 , SIX3 0.00 0 , SIX5 0.00 0 , SIX6 0.00 0 , HHAT 0.00 0 , SLC10A7 0.00 0 , SLC12A1 0.00 0 , SLC12A6 0.00 0 , SLC13A5 0.00 0 , SLC16A2 0.00 0 , SLC17A5 0.00 0 , SLC18A3 0.00 0 , SLC1A2 0.00 0 , SLC20A1 0.00 0 , SLC20A2 0.00 0 , SLC24A4 0.00 0 , SLC25A19 0.00 0 , SLC25A20 0.00 0 , SLC25A22 0.00 0 , SLC25A24 0.00 0 , SLC25A38 0.00 0 , SLC25A4 0.00 0 , SLC26A2 0.00 0 , SLC26A3 0.00 0 , SLC27A4 0.00 0 , SLC29A3 0.00 0 , SLC2A10 0.00 0 , SLC33A1 0.00 0 , SLC35A1 0.00 0 , SLC35A2 0.00 0 , SLC35A3 0.00 0 , SLC35C1 0.00 0 , SLC35D1 0.00 0 , SLC39A8 0.00 0 , SLC45A1 0.00 0 , SLC5A7 0.00 0 , SLC6A17 0.00 0 , SLC6A8 0.00 0 , SLC6A9 0.00 0 , SLC7A9 0.00 0 , SLC9A6 0.00 0 , SLIT2 0.00 0 , SLX4 0.00 0 , SMAD3 0.00 0 , SMAD4 0.00 0 , SMARCA2 0.00 0 , SMARCA4 0.00 0 , SMARCB1 0.00 0 , SMARCC1 0.00 0 , SMARCE1 0.00 0 , SMC1A 0.00 0 , SMC3 0.00 0 , SMCHD1 0.00 0 , SMG9 0.00 0 , SMN1 0.00 0 , SMO 0.00 0 , SMOC1 0.00 0 , SMOC2 0.00 0 , SMPD1 0.00 0 , SMPD4 0.00 0 , SNAP25 0.00 0 , SNAP29 0.00 0 , SNIP1 0.00 0 , SNRPB 0.00 0 , SNRPE 0.00 0 , SNX10 0.00 0 , SNX14 0.00 0 , SON 0.00 0 , SOS1 0.00 0 , SOS2 0.00 0 , SOST 0.00 0 , SOX10 0.00 0 , SOX11 0.00 0 , SOX17 0.00 0 , SOX18 0.00 0 , SOX2 0.00 0 , SOX3 0.00 0 , SOX5 0.00 0 , SOX6 0.00 0 , SOX9 0.00 0 , SP7 0.00 0 , SPAG1 0.00 0 , SPARC 0.00 0 , SPATA5 0.00 0 , SPATA7 0.00 0 , SPECC1L 0.00 0 , SPEG 0.00 0 , SPG11 0.00 0 , SPRED1 0.00 0 , SPRY4 0.00 0 , SPTAN1 0.00 0 , SRCAP 0.00 0 , SRD5A2 0.00 0 , SRD5A3 0.00 0 , SRGAP1 0.00 0 , SRP54 0.00 0 , SRY 0.00 0 , ST14 0.00 0 , ST3GAL3 0.00 0 , ST3GAL5 0.00 0 , STAC3 0.00 0 , STAG2 0.00 0 , STAMBP 0.00 0 , STAT3 0.00 0 , STAT5B 0.00 0 , STIL 0.00 0 , STRA6 0.00 0 , STRADA 0.00 0 , STS 0.00 0 , STX1B 0.00 0 , STXBP1 0.00 0 , SUCLG1 0.00 0 , SUFU 0.00 0 , SULT2B1 0.00 0 , SUMF1 0.00 0 , SUMO1 0.00 0 , SUZ12 0.00 0 , SYN1 0.00 0 , SYNE1 0.00 0 , SYNM 0.00 0 , SZT2 0.00 0 , TAB2 0.00 0 , TAC3 0.00 0 , TACO1 0.00 0 , TACR3 0.00 0 , TAF1 0.00 0 , TAF13 0.00 0 , TAF2 0.00 0 , TALDO1 0.00 0 , TAPT1 0.00 0 , WWTR1 0.00 0 , TBC1D1 0.00 0 , TBC1D20 0.00 0 , TBC1D23 0.00 0 , TBC1D24 0.00 0 , TBC1D32 0.00 0 , TBCD 0.00 0 , TBCE 0.00 0 , TBCK 0.00 0 , TBL1XR1 0.00 0 , TBR1 0.00 0 , TBX1 0.00 0 , TBX15 0.00 0 , TBX18 0.00 0 , TBX20 0.00 0 , TBX22 0.00 0 , TBX3 0.00 0 , TBX4 0.00 0 , TBX5 0.00 0 , TBX6 0.00 0 , TBXT 0.00 0 , TCF12 0.00 0 , TCF20 0.00 0 , TCF4 0.00 0 , TCIRG1 0.00 0 , TCOF1 0.00 0 , DYNLT2B 0.00 0 , TCTN1 0.00 0 , TCTN2 0.00 0 , TCTN3 0.00 0 , TECPR2 0.00 0 , TELO2 0.00 0 , TENM3 0.00 0 , TENT5A 0.00 0 , TFAP2A 0.00 0 , TFAP2B 0.00 0 , TGDS 0.00 0 , TGFB2 0.00 0 , TGFB3 0.00 0 , TGFBR1 0.00 0 , TGFBR2 0.00 0 , TGIF1 0.00 0 , TGM1 0.00 0 , THOC2 0.00 0 , THOC6 0.00 0 , THRA 0.00 0 , THSD1 0.00 0 , TINF2 0.00 0 , TLL1 0.00 0 , TMCO1 0.00 0 , TMEM107 0.00 0 , TMEM138 0.00 0 , TMEM165 0.00 0 , TMEM216 0.00 0 , TMEM231 0.00 0 , TMEM237 0.00 0 , TMEM260 0.00 0 , TMEM38B 0.00 0 , TMEM67 0.00 0 , TMEM70 0.00 0 , TMEM94 0.00 0 , TMEM98 0.00 0 , TMTC3 0.00 0 , TMX2 0.00 0 , TNC 0.00 0 , TNFRSF13B 0.00 0 , TNNI2 0.00 0 , TNNT1 0.00 0 , TNNT3 0.00 0 , TNXB 0.00 0 , TOE1 0.00 0 , TOP3A 0.00 0 , TOR1A 0.00 0 , TP53RK 0.00 0 , TP63 0.00 0 , TPM2 0.00 0 , TPM3 0.00 0 , TRAF3IP1 0.00 0 , TRAF7 0.00 0 , TRAIP 0.00 0 , TRAP1 0.00 0 , TRAPPC11 0.00 0 , TRAPPC12 0.00 0 , TRAPPC9 0.00 0 , TREM2 0.00 0 , TREX1 0.00 0 , TRIM32 0.00 0 , TRIM37 0.00 0 , TRIO 0.00 0 , TRIP11 0.00 0 , TRIP12 0.00 0 , TRIP13 0.00 0 , TRIP4 0.00 0 , TRMT10A 0.00 0 , TRMT10C 0.00 0 , TRPM7 0.00 0 , TRPS1 0.00 0 , TRPV3 0.00 0 , TRPV4 0.00 0 , TRPV6 0.00 0 , TSC1 0.00 0 , TSC2 0.00 0 , TSEN15 0.00 0 , TSEN2 0.00 0 , TSEN34 0.00 0 , TSEN54 0.00 0 , TSFM 0.00 0 , TSPYL1 0.00 0 , TTC21B 0.00 0 , ODAD4 0.00 0 , TTC37 0.00 0 , TTC7A 0.00 0 , TTC8 0.00 0 , TTC9 0.00 0 , TTI2 0.00 0 , TTN 0.00 0 , TUBA1A 0.00 0 , TUBA8 0.00 0 , TUBB 0.00 0 , TUBB2A 0.00 0 , TUBB2B 0.00 0 , TUBB3 0.00 0 , TUBB4A 0.00 0 , TUBG1 0.00 0 , TUBGCP4 0.00 0 , TUBGCP6 0.00 0 , TUFM 0.00 0 , TULP1 0.00 0 , TWIST1 0.00 0 , TWIST2 0.00 0 , TXNDC15 0.00 0 , TXNL4A 0.00 0 , TYR 0.00 0 , TYROBP 0.00 0 , UBA1 0.00 0 , UBB 0.00 0 , UBE2T 0.00 0 , UBE3A 0.00 0 , UBE3B 0.00 0 , UBR1 0.00 0 , UBTF 0.00 0 , UFD1 0.00 0 , UMOD 0.00 0 , UMPS 0.00 0 , UNC50 0.00 0 , UPF3B 0.00 0 , UPK3A 0.00 0 , UQCRB 0.00 0 , UQCRQ 0.00 0 , UROS 0.00 0 , USP18 0.00 0 , USP27X 0.00 0 , USP9X 0.00 0 , UTRN 0.00 0 , VAMP1 0.00 0 , VANGL1 0.00 0 , VANGL2 0.00 0 , VAX1 0.00 0 , VDR 0.00 0 , VEGFC 0.00 0 , VIPAS39 0.00 0 , VLDLR 0.00 0 , VMA21 0.00 0 , VPS13B 0.00 0 , VPS33B 0.00 0 , VPS53 0.00 0 , VRK1 0.00 0 , VSX2 0.00 0 , VTI1A 0.00 0 , VWA2 0.00 0 , WASHC5 0.00 0 , WBP11 0.00 0 , WDPCP 0.00 0 , WDR11 0.00 0 , WDR19 0.00 0 , WDR26 0.00 0 , DYNC2I2 0.00 0 , WDR35 0.00 0 , WDR4 0.00 0 , DYNC2I1 0.00 0 , WDR62 0.00 0 , WDR73 0.00 0 , WDR81 0.00 0 , WNT1 0.00 0 , WNT10B 0.00 0 , WNT3 0.00 0 , WNT4 0.00 0 , WNT5A 0.00 0 , WNT7A 0.00 0 , WRAP53 0.00 0 , WT1 0.00 0 , WWOX 0.00 0 , XRCC4 0.00 0 , XYLT1 0.00 0 , XYLT2 0.00 0 , YAP1 0.00 0 , YWHAG 0.00 0 , YY1 0.00 0 , ZBTB18 0.00 0 , ZBTB20 0.00 0 , ZC4H2 0.00 0 , ZDHHC9 0.00 0 , ZEB2 0.00 0 , ZFP57 0.00 0 , ZFPM2 0.00 0 , ZFYVE26 0.00 0 , ZIC1 0.00 0 , ZIC2 0.00 0 , ZIC3 0.00 0 , ZMPSTE24 0.00 0 , ZMYND10 0.00 0 , ZMYND11 0.00 0 , ZNF423 0.00 0 , ZNF462 0.00 0 , ZNF469 0.00 0 , ZNF750 0.00 0 , ZNRF3 0.00 0 , ZPR1 0.00 0 , ZSWIM6 0.00 0 , -
Disorders of Sex Development - Primary Ovarian Insufficiency - Hypogonadotropic Hypogonadism - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS2 99.98 1 AKR1C2 91.19 1 AKR1C4 100.00 1 AMH 100.00 1 AMHR2 99.96 1 ANOS1 99.96 1 AR 99.76 1 ARX 95.36 1 ATRX 99.44 1 AXL 99.97 1 BMP15 99.98 1 BMP4 100.00 1 BNC1 100.00 1 CBX2 100.00 1 CHD7 99.99 1 CLPP 99.99 1 CREBBP 99.97 1 CYB5A 99.98 1 CYP11A1 99.99 1 CYP11B1 100.00 1 CYP17A1 100.00 1 CYP19A1 99.99 1 CYP21A2 99.85 1 DHCR7 99.97 1 DHH 100.00 1 DHX37 99.98 1 DMRT1 99.99 1 DMXL2 99.86 1 DUSP6 99.99 1 EIF4ENIF1 100.00 1 EP300 99.97 1 ESR1 100.00 1 ESR2 99.96 1 FANCM 99.83 1 FEZF1 100.00 1 FGF17 99.81 1 FGF8 100.00 1 FGF9 100.00 1 FGFR1 100.00 1 FGFR2 99.99 1 FIGLA 99.95 1 FLRT3 100.00 1 FOXL2 99.97 1 FSHB 100.00 1 FSHR 99.99 1 GATA4 99.99 1 GDF9 99.98 1 GNRH1 99.96 1 GNRHR 99.94 1 HDAC8 99.74 1 HESX1 99.77 1 HFM1 89.74 1 HHAT 99.93 1 HOXA13 99.94 1 HS6ST1 99.99 1 HSD17B3 99.77 1 HSD17B4 99.71 1 HSD3B2 100.00 1 IL17RD 99.94 1 INSL3 98.02 1 KHDRBS1 99.35 1 KISS1 99.97 1 KISS1R 100.00 1 LARS2 99.96 1 LEP 100.00 1 LEPR 92.52 1 LHB 99.93 1 LHCGR 99.94 1 LHX1 99.96 1 LHX3 99.99 1 LHX4 99.99 1 MAMLD1 99.84 1 MAP3K1 99.93 1 MCM8 98.78 1 MCM9 99.76 1 MEIOB 99.98 1 MID1 99.90 1 MRPS22 99.87 1 MSH4 89.29 1 MSH5 100.00 1 NANOS3 100.00 1 NBN 99.93 1 NOBOX 99.95 1 NR0B1 99.98 1 NR2F2 100.00 1 NR5A1 99.92 1 NSMF 100.00 1 NUP107 97.46 1 OTUD4 99.83 1 PATL2 99.99 1 PCSK1 99.99 1 PNPLA6 99.99 1 POF1B 99.34 1 POLR2C 99.99 1 POLR3A 99.97 1 PORCN 99.98 1 PROK2 98.65 1 PROKR2 100.00 1 PROP1 99.88 1 PSMC3IP 99.82 1 RNF216 99.99 1 RSPO1 99.99 1 RXFP2 99.99 1 SEMA3A 99.42 1 SEMA7A 99.90 1 SOHLH1 100.00 1 SOHLH2 100.00 1 SOX10 100.00 1 SOX2 100.00 1 SOX3 100.00 1 SOX8 99.99 1 SOX9 100.00 1 SPIDR 99.96 1 SPRY4 100.00 1 SRD5A2 100.00 1 SRY 51.98 1 STAG3 98.99 1 GUCY2C 99.97 1 SYCE1 99.99 1 TAC3 99.94 1 TACR3 99.99 1 TP63 99.97 1 TSPYL1 100.00 1 TWNK 100.00 1 WDR11 99.91 1 WNT4 99.94 1 WT1 99.99 1 WWOX 100.00 1 ZFPM2 100.00 1 ZNRF3 99.94 1 -
Skin disorders - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 99.88 1 AAGAB 100.00 1 ABCA12 99.94 1 ABCB6 99.97 1 ABHD5 99.98 1 ADAM10 99.88 1 ADAR 99.84 1 ADGRE2 98.77 1 ALDH3A2 99.95 1 ALOX12B 100.00 1 ALOXE3 99.98 1 ALX4 100.00 1 ANTXR1 99.83 1 ANTXR2 99.67 1 AP1S1 99.49 1 AP3B1 99.89 1 AP3D1 100.00 1 APCDD1 99.99 1 AQP5 99.88 1 ARHGAP31 100.00 1 ARSL 99.93 1 ATP2A2 99.98 1 ATP6V1B2 99.99 1 ATP7A 99.87 1 AXIN2 100.00 1 BANF1 99.84 1 BCS1L 99.99 1 BLM 99.80 1 BLOC1S3 100.00 1 BLOC1S6 99.98 1 BMS1 85.80 1 BRAF 99.78 1 C1QA 99.99 1 C1QB 99.58 1 C1QC 99.97 1 C5 99.92 1 CARD11 99.97 1 CARD14 99.99 1 CASP10 99.85 1 CASP14 99.86 1 CASP8 99.92 1 CAST 99.94 1 CBL 99.95 1 CD151 100.00 1 CDH1 99.98 1 CDH3 99.98 1 CDKN1B 100.00 1 CDKN1C 100.00 1 CDSN 99.94 1 CERS3 99.85 1 CHST8 100.00 1 CHUK 99.83 1 CLDN1 99.99 1 CLDN10 99.97 1 COG6 99.86 1 COL17A1 99.98 1 COL18A1 99.99 1 COL7A1 99.99 1 COX7B 99.86 1 CYP11B1 100.00 1 CSTB 99.99 1 CSTA 99.83 1 CTLA4 99.99 1 CTSC 99.97 1 CYLD 99.46 1 CYP11A1 99.99 1 CYP21A2 99.85 1 CYP26C1 99.92 1 CYP4F22 99.97 1 DCAF17 99.84 1 DCLRE1C 99.79 1 DCPS 99.98 1 DDB2 100.00 1 DHCR24 99.93 1 DIP2B 99.65 1 DKC1 99.59 1 DLL4 100.00 1 DOCK6 100.00 1 DOCK8 99.86 1 DPH1 100.00 1 DSC3 99.73 1 DSG1 99.35 1 DSG3 99.97 1 DSG4 99.91 1 DSP 100.00 1 DST 99.52 1 DSTYK 99.83 1 DTNBP1 99.89 1 GLB1 99.92 1 EDA 99.44 1 EDAR 99.89 1 EDARADD 99.98 1 EDN3 100.00 1 EDNRA 99.97 1 EDNRB 99.99 1 ELOVL4 99.91 1 ENPP1 99.88 1 EOGT 99.09 1 EPG5 99.95 1 ERCC2 99.98 1 ERCC3 99.90 1 ERCC4 99.92 1 ERCC5 99.99 1 ERCC6 99.60 1 ERCC8 99.79 1 EVC 99.95 1 EVC2 99.97 1 EXPH5 99.81 1 F12 99.99 1 FAM111B 99.98 1 FAS 99.99 1 FASLG 99.84 1 FECH 99.98 1 FERMT1 99.90 1 FGFR1 98.88 1 FGFR3 100.00 1 FOXN1 99.97 1 FZD6 99.95 1 GBA 96.92 1 GINS1 99.99 1 GJA1 100.00 1 GJB2 100.00 1 GJB3 99.99 1 GJB4 100.00 1 GJB6 100.00 1 GPR143 99.60 1 GREM2 100.00 1 GRHL2 100.00 1 GRIN2B 99.99 1 GTF2E2 100.00 1 GTF2H5 100.00 1 HCCS 99.90 1 HOXC13 99.98 1 HPGD 99.98 1 HPS1 100.00 1 HPS3 99.91 1 HPS4 99.98 1 HPS5 99.91 1 HPS6 100.00 1 HR 99.95 1 HRAS 100.00 1 HSPA9 99.96 1 IFT122 99.98 1 IFT43 99.97 1 IKBKG 57.34 1 IL2RA 99.99 1 IL31RA 100.00 1 ITGA3 99.86 1 ITGA6 99.78 1 ITGB4 99.99 1 ITPR2 99.13 1 JUP 99.94 1 KCNH1 99.92 1 KCTD1 99.99 1 KDF1 99.86 1 KDSR 99.99 1 KEAP1 100.00 1 KIT 99.86 1 KITLG 99.46 1 KLHL24 99.90 1 KRAS 99.13 1 KREMEN1 99.88 1 KRT1 99.89 1 KRT10 100.00 1 KRT13 99.98 1 KRT14 99.99 1 KRT16 100.00 1 KRT17 100.00 1 KRT2 99.88 1 KRT3 99.89 1 KRT5 99.98 1 KRT6A 100.00 1 KRT6B 99.95 1 KRT6C 96.59 1 KRT7 99.87 1 KRT74 99.92 1 KRT83 100.00 1 KRT85 99.97 1 KRT9 100.00 1 LAMA4 99.90 1 LAMB3 99.99 1 LAMC2 99.54 1 LBR 99.66 1 LIPH 99.99 1 LIPN 99.94 1 LMNA 99.96 1 LMNB2 99.99 1 LORICRIN 100.00 1 LPAR6 99.99 1 LRMDA 99.87 1 LRP1 99.94 1 LYST 99.87 1 LZTR1 99.46 1 MBTPS2 99.81 1 MC1R 100.00 1 MC2R 100.00 1 MC4R 100.00 1 MCM4 99.96 1 MEN1 99.98 1 MITF 99.98 1 MLPH 100.00 1 MMP1 99.99 1 MPDU1 99.97 1 MPLKIP 99.99 1 MSX1 100.00 1 MYO5A 99.94 1 NECTIN1 99.99 1 NECTIN4 99.97 1 NF1 99.88 1 NFKBIA 99.99 1 NIPAL4 100.00 1 NLRC4 99.95 1 NLRP1 95.26 1 NLRP12 99.99 1 NLRP3 100.00 1 NNT 99.87 1 NOP10 99.99 1 NOTCH1 99.98 1 NR5A1 99.92 1 NRAS 99.66 1 NSDHL 99.87 1 OCA2 99.60 1 OSMR 99.95 1 PADI3 99.35 1 PAX3 100.00 1 PAX6 99.95 1 PDGFRB 99.99 1 PEPD 99.98 1 PEX7 99.72 1 PGM3 99.94 1 PHGDH 99.79 1 PHYH 100.00 1 PIEZO1 99.98 1 PIGL 99.98 1 PIGT 99.95 1 PKP1 99.98 1 PLCD1 99.98 1 PLCG2 99.99 1 PLEC 100.00 1 PMVK 99.60 1 PNPLA1 99.98 1 PNPLA2 100.00 1 PNPLA6 99.99 1 POFUT1 100.00 1 POGLUT1 99.99 1 POLA1 99.57 1 POLH 99.85 1 POMC 99.99 1 NT5C3A 99.95 1 PORCN 99.93 1 HCRT 99.85 1 PRKCD 99.96 1 PRKD1 99.96 1 PSAT1 99.98 1 PSENEN 100.00 1 PSMB8 99.96 1 PTCH1 99.99 1 PTEN 99.89 1 PTPN11 99.98 1 PTPRF 99.92 1 RAB27A 99.94 1 RAD50 99.75 1 RAF1 99.97 1 RAG1 100.00 1 RAG2 100.00 1 RBM28 99.99 1 RBPJ 99.96 1 RECQL4 100.00 1 RET 99.97 1 RHBDF2 99.95 1 RIN2 99.99 1 RIT1 99.78 1 RMRP 100.00 1 RSPO1 99.99 1 SCN9A 99.83 1 SDR9C7 99.99 1 SERPINB7 99.93 1 SERPINB8 99.98 1 SERPING1 100.00 1 SGPL1 99.95 1 SHOC2 99.96 1 SLC24A5 99.99 1 SLC27A4 100.00 1 SLC29A3 99.98 1 SLC39A4 100.00 1 SLC45A2 100.00 1 SLURP1 100.00 1 SMARCA2 99.95 1 SMARCAD1 99.86 1 SNAI2 100.00 1 SNAP29 99.85 1 SNRPE 99.26 1 SOS1 99.68 1 SOS2 99.39 1 SOX10 100.00 1 SOX18 100.00 1 SPINK5 99.91 1 SPINT1 100.00 1 SPRED1 99.99 1 SRD5A3 99.94 1 ST14 100.00 1 ST3GAL5 99.96 1 STAT3 99.97 1 STIM1 99.99 1 STK11 100.00 1 STS 99.81 1 SULT2B1 99.92 1 SUMF1 99.95 1 TAT 99.99 1 TCHH 99.94 1 TERC 98.59 1 TGM1 99.82 1 TGM3 100.00 1 TGM5 100.00 1 TINF2 100.00 1 TP63 99.97 1 TRPM1 99.96 1 TRPS1 100.00 1 TRPV3 99.90 1 TWIST2 100.00 1 TXNRD2 99.97 1 TYRP1 99.97 1 UBR1 99.93 1 UROD 99.32 1 UROS 100.00 1 USB1 89.62 1 VCX 96.04 1 VCX3A 85.19 1 WDR19 99.80 1 WDR35 99.92 1 WNT10A 100.00 1 XPA 99.68 1 XPC 99.98 1 ZMPSTE24 98.70 1