- AAAS 1
- ABCC6 1
- ABCC8 2
- ABCD1 1
- ABCD4 2
- ABCG5 1
- ACAD9 2
- ACADM 2
- ACADVL 2
- ACAT1 2
- ACTA2 2
- ACVRL1 1
- ADA 1
- ADA2 1
- ADAMTS13 1
- ADGRV1 1
- AGL 2
- AGRN 1
- AGXT 1
- AHCY 3
- AICDA 1
- AIRE 1
- AK2 1
- AKR1D1 1
- ALDH4A1 2
- ALDH7A1 1
- ALDOB 1
- ALPL 1
- AMACR 1
- AMN 1
- AP3B1 1
- AQP2 1
- ARG1 2
- ARPC1B 1
- ARSA 2
- ARSB 2
- ASL 2
- ASS1 2
- ATP6V0A4 1
- ATP6V1B1 1
- ATP7A 1
- ATP7B 2
- AVP 1
- AVPR2 1
- BCHE 2
- BCKDHA 2
- BCKDHB 2
- BCKDK 2
- BLNK 1
- BMP1 1
- BRCA1 1
- BRCA2 1
- BRIP1 1
- BSCL2 2
- BSND 1
- BTD 2
- BTK 2
- C17orf62 1
- C2 1
- C3 1
- C5 1
- C6 1
- C7 1
- C8B 1
- C9 1
- CA12 1
- CA2 1
- CA5A 2
- CABP2 1
- CACNA1S 1
- CAD 1
- CALM3 1
- CARD11 1
- CASR 1
- CAV1 1
- CAVIN1 2
- CBS 2
- CD19 1
- CD247 1
- CD27 1
- CD3D 1
- CD3E 1
- CD3G 1
- CD40 1
- CD40LG 1
- CD55 1
- CD70 1
- CD79A 1
- CD79B 1
- CDC14A 1
- CDCA7 1
- CDCA8 1
- CDH23 1
- CDKN1C 1
- CEBPE 1
- CFD 1
- CFH 1
- CFI 1
- CFP 1
- CFTR 2
- CHAT 2
- CHRNA1 2
- CHRNB1 1
- CHRND 2
- CHRNE 2
- CIB2 1
- CIITA 1
- CLCN7 1
- CLDN14 1
- CLPP 1
- COCH 1
- COL11A1 1
- COL11A2 1
- COL13A1 1
- COL1A1 1
- COL1A2 1
- COL2A1 1
- COL4A3 1
- COL4A4 1
- COL4A5 1
- COL9A1 1
- COL9A2 2
- COL9A3 1
- COLQ 2
- COQ2 1
- COQ4 2
- COQ6 1
- COQ8A 2
- CORO1A 1
- CPS1 2
- CPT1A 2
- CPT2 2
- CRTAP 1
- CSF3R 1
- CTNS 2
- CTPS1 1
- CUBN 2
- CUL3 1
- CXCR4 1
- CYB561 1
- CYBA 1
- CYBB 1
- CYP11A1 2
- CYP11B1 2
- CYP11B2 2
- CYP17A1 2
- CYP21A2 2
- CYP27A1 2
- CYP27B1 2
- CYP2R1 1
- CYP7B1 1
- DBT 2
- DCLRE1C 1
- DDC 2
- DFNB59 1
- DGAT1 2
- DHCR7 2
- DHFR 1
- DICER1 1
- DLAT 1
- DMP1 1
- DNAJC12 1
- DNAJC21 1
- DNASE2 1
- DNMT3B 1
- DOCK2 1
- DOCK8 1
- DOK7 1
- DPAGT1 2
- DUOX2 1
- DUOXA2 1
- ECHS1 1
- EDN3 1
- EDNRB 1
- EFL1 1
- EIF2AK3 1
- ELANE 1
- ENG 1
- ENPP1 1
- EPS8 1
- ERCC4 1
- ESPN 1
- ESRRB 1
- ETFA 2
- ETFB 2
- ETFDH 2
- ETHE1 2
- F10 1
- F13A1 1
- F13B 1
- F7 1
- F9 1
- FAH 2
- FAM111A 1
- FANCA 1
- FANCB 1
- FANCC 1
- FANCD2 1
- FANCG 1
- FANCI 1
- FBN1 1
- FBP1 2
- FCHO1 1
- FECH 1
- FERMT3 1
- FGA 1
- FGB 1
- FGF23 1
- FGF3 1
- FGFR3 1
- FGG 1
- FH 2
- FKBP10 1
- FLAD1 2
- FOLR1 1
- FOXA2 1
- FOXE1 1
- FOXN1 1
- FOXP3 1
- FUCA1 2
- G6PC 3
- G6PC3 1
- G6PD 1
- GAA 1
- GALC 1
- GALE 2
- GALK1 2
- GALM 1
- GALNS 1
- GALNT3 1
- GALT 2
- GAMT 1
- GATA2 1
- GATA3 2
- GATA4 3
- GATM 2
- GBA 1
- GCDH 2
- GCH1 3
- GCK 2
- GCM2 1
- GFI1 1
- GGCX 2
- GH1 1
- GHR 1
- GHRHR 1
- GIF 2
- GIPC3 1
- GJB2 1
- GLA 2
- GLIS3 2
- GLRA1 1
- GLUD1 1
- GNAS 1
- GOT2 2
- GPIHBP1 1
- GREB1L 1
- GRHPR 2
- GRXCR1 1
- GUSB 2
- GYS2 2
- HADH 2
- HADHA 3
- HADHB 2
- HAX1 1
- HBB 1
- HELLS 1
- HESX1 1
- HGF 1
- HIBCH 1
- HK1 1
- HLCS 2
- HMGCL 2
- HOGA1 1
- HSD11B2 1
- HSD3B2 2
- HSD3B7 1
- ICOS 1
- IDS 2
- IDUA 2
- IFITM5 1
- IGF1 1
- IGHM 1
- IGLL1 1
- IGSF1 1
- IKBKB 1
- IKZF1 1
- IL10 1
- IL10RA 1
- IL10RB 1
- IL1RN 1
- IL21R 1
- IL2RA 1
- IL2RB 1
- IL2RG 1
- IL36RN 1
- IL7R 1
- ILDR1 1
- INS 1
- IRAK4 1
- IRF8 1
- IRS4 1
- ITGA2B 1
- ITGB2 1
- ITGB3 1
- ITK 1
- IVD 2
- IYD 1
- JAGN1 1
- JAK3 1
- KCNH2 1
- KCNJ1 1
- KCNJ11 1
- KCNJ2 1
- KCNQ1 2
- KDELR2 1
- KLHL3 1
- LAMA2 2
- LAT 1
- LDLR 2
- LEP 1
- LEPR 2
- LHFPL5 2
- LHX3 2
- LHX4 2
- LIG1 1
- LIG4 3
- LIPA 2
- LMBRD1 3
- LOXHD1 2
- LPL 1
- LRBA 1
- LRP5 2
- LRTOMT 1
- LYST 1
- MAFB 2
- MAGT1 1
- MALT1 1
- MAN2B1 2
- MARVELD2 1
- MC2R 2
- MCEE 1
- MEFV 2
- MESD 1
- MITF 2
- MLH1 1
- MLYCD 3
- MMAA 2
- MMAB 2
- MMACHC 2
- MMADHC 2
- MNX1 1
- MOCS1 2
- MPI 3
- MPL 2
- MRAP 2
- MSH2 1
- MSH6 1
- MTHFD1 1
- MTR 2
- MT-RNR1 1
- MTRR 2
- MTTP 2
- MUSK 2
- MUT 2
- MVK 2
- MYD88 1
- MYH7 2
- MYO15A 2
- MYO3A 2
- MYO6 2
- MYO7A 2
- MYSM1 2
- NAGLU 2
- NAGS 2
- NCF2 2
- NCF4 1
- NEUROG3 2
- NFKBIA 1
- NHEJ1 2
- NIPAL4 2
- NKX2-1 2
- NKX2-5 1
- NNT 2
- NPC1 3
- NPC2 3
- NR0B1 2
- NR3C2 2
- NR5A1 2
- OAS1 1
- OAT 1
- ORAI1 1
- OTC 2
- OTOA 1
- OTOF 1
- OTOG 1
- OTOGL 2
- OTULIN 1
- OTX2 1
- OXCT1 2
- P3H1 1
- PAH 2
- PALB2 2
- PAX3 1
- PAX8 1
- PC 2
- PCBD1 2
- PCCA 2
- PCCB 2
- PCDH15 1
- PCSK9 1
- PDHA1 2
- PDHB 1
- PDHX 2
- PDP1 1
- PDX1 1
- PDZD7 1
- PGM1 1
- PGM3 1
- PHEX 1
- PHGDH 1
- PHKA2 1
- PHKB 1
- PHKG2 1
- PIK3CD 1
- PIK3R1 1
- PKLR 1
- PLG 1
- PLPBP 1
- PLS3 1
- PNP 1
- PNPO 1
- POLE 1
- POMC 1
- POR 1
- POU1F1 1
- POU3F4 1
- PPOX 1
- PRDX1 1
- PRF1 1
- PRKAR1A 1
- PRKDC 1
- PROP1 1
- PSTPIP1 1
- PTCH1 1
- PTF1A 1
- PTPRC 1
- PTPRQ 1
- PTS 2
- PYGL 2
- QDPR 2
- RAB27A 1
- RAC2 1
- RAG1 1
- RAG2 1
- RAPSN 1
- RASGRP1 1
- RB1 1
- RDX 1
- REST 1
- RET 1
- RFX5 1
- RFXANK 1
- RFXAP 1
- RMRP 1
- RNPC3 1
- RPE65 1
- RPL11 1
- RPL15 1
- RPL35A 1
- RPL5 1
- RPS10 1
- RPS17 1
- RPS19 1
- RPS24 1
- RPS26 1
- RPS7 1
- RUNX1 1
- RYR1 1
- RYR2 1
- S1PR2 1
- SAMD9 1
- SAMD9L 1
- SAR1B 1
- SBDS 1
- SCNN1A 1
- SCNN1B 1
- SCNN1G 1
- SERPINF1 1
- SERPINH1 1
- SGPL1 2
- SH2D1A 1
- SI 1
- SLC12A1 1
- SLC18A2 1
- SLC18A3 1
- SLC19A2 1
- SLC19A3 1
- SLC22A5 3
- SLC25A13 3
- SLC25A15 2
- SLC25A19 3
- SLC25A20 3
- SLC25A38 1
- SLC26A3 1
- SLC26A4 2
- SLC26A7 1
- SLC2A1 2
- SLC30A10 1
- SLC34A3 1
- SLC35A2 1
- SLC37A4 1
- SLC39A4 1
- SLC39A7 2
- SLC39A8 1
- SLC46A1 1
- SLC4A1 1
- SLC52A2 1
- SLC52A3 1
- SLC5A1 1
- SLC5A5 2
- SLC5A6 1
- SLC5A7 1
- SLC7A7 1
- SLITRK6 1
- SLX4 1
- SMAD2 1
- SMAD3 1
- SMARCD2 2
- SMN1 2
- SMPD1 1
- SNX10 1
- SP110 1
- SPR 2
- SRP54 1
- STAR 1
- STAT1 2
- STAT3 1
- STIM1 2
- STK4 2
- STX11 1
- STX16 1
- STXBP2 1
- SYT2 1
- TANGO2 1
- TAT 2
- TBL1X 1
- TBX19 1
- TCF3 1
- TCIRG1 1
- TCN2 2
- TECTA 1
- TF 1
- TG 2
- TGFB2 1
- TGFB3 1
- TGFBR1 1
- TGFBR2 1
- TH 1
- THRA 2
- TK2 2
- TMC1 1
- TMEM38B 1
- TMIE 1
- TMPRSS3 1
- TNFRSF11A 1
- TP53 1
- TPK1 1
- TPO 1
- TPP1 2
- TPRN 1
- TRHR 1
- TRIM28 1
- TRIOBP 1
- TRMU 2
- TRPM6 1
- TSHB 1
- TSHR 2
- TTPA 1
- TUBB1 1
- UBE2T 2
- UGT1A1 1
- UMPS 1
- UNC13D 1
- UROS 2
- USH1C 1
- USH1G 1
- USH2A 1
- VAMP1 1
- VDR 1
- VHL 2
- VKORC1 2
- VPS45 1
- WAS 1
- WDR1 1
- WDR72 2
- WHRN 2
- WIPF1 1
- WNK1 1
- WNK4 1
- WT1 1
- XIAP 1
- XPA 1
- XPC 1
- ZAP70 1
- ADAR 1
- AGPAT2 1
- AMT 1
- AP1B1 2
- AP3D1 1
- CACNA1C 0
- CALM1 1
- CALM2 1
- CASQ2 1
- CLN3 2
- CLN5 2
- CLN6 2
- COL3A1 1
- COQ7 2
- CP 1
- CRYAB 0
- DES 0
- DMD 1
- DSC2 1
- DSG2 1
- DSP 1
- ERCC6L2 1
- F8 1
- GFAP 2
- GJA5 0
- GLDC 2
- GNE 1
- GPD1L 0
- HBA1 1
- HBA2 1
- HGD 2
- HMGCS2 2
- HNF1A 1
- HNF4A 1
- IARS 1
- IFNGR1 1
- IFNGR2 1
- IKBKG 1
- JUP 1
- KCNE1 0
- KCNE2 0
- KRIT1 0
- LAMP2 3
- LMNA 0
- LOX 1
- MCFD2 2
- MEN1 2
- MYH11 1
- MYL2 0
- MYL3 0
- MYLK 0
- NAXD 1
- NCF1 2
- NLRP3 1
- PKD1 1
- PKD2 1
- PKP2 1
- PMS2 1
- PRKG1 1
- PSPH 2
- RBM20 0
- RNASEH2A 1
- RNASEH2B 1
- RNASEH2C 1
- SAMHD1 2
- SCN5A 1
- SDHAF2 0
- SDHB 0
- SDHC 0
- SGSH 2
- SLC16A1 2
- SLC16A2 1
- SLC25A1 1
- SLC35C1 1
- SLC39A14 1
- SLC6A5 1
- SLC6A8 2
- SLC9A3 2
- SMARCAL1 1
- SNTA1 0
- SOX3 2
- SP7 1
- SPTLC1 1
- STK11 2
- STRC 2
- SUOX 1
- TECRL 1
- TERC 0
- TERT 0
- TINF2 0
- TMEM165 2
- TNFRSF11B 1
- TNFSF11 2
- TNNC1 0
- TNNI3 0
- TNNT2 0
- TOP2B 2
- TPM1 0
- TRDN 1
- TREX1 2
- TRNT1 2
- TRPM4 1
- TTN 0
- UNG 2
- USP18 2
- VCL 0
- VWF 0
- ZBTB24 2
- AARS 1
- AARS2 0
- ABAT 0
- ABCA12 1
- ABCA3 1
- ABCA4 1
- ABCB11 1
- ABCB4 1
- ABCB7 0
- ABCC2 1
- ABCC9 0
- ABHD12 1
- ACAD8 1
- ACADL 0
- ACADS 1
- ACADSB 1
- ACBD5 0
- ACE 1
- ACO2 0
- ACOX1 1
- ACSF3 0
- ACTA1 0
- ACTB 0
- ACTC1 0
- ACTG1 1
- ACTG2 1
- ACTN1 1
- ACTN2 0
- ACTN4 1
- ACVR1 1
- ACVR2B 0
- ADAM17 0
- ADAMTS2 0
- ADAMTSL2 1
- ADGRG1 1
- ADK 1
- AGA 1
- AGPS 0
- AGT 0
- AGTR1 0
- AHI1 1
- AHSP 0
- AIFM1 1
- AIP 1
- AK1 0
- AKAP9 0
- AKT2 0
- AKT3 0
- ALAS2 1
- ALB 1
- ALDH18A1 1
- ALDH1A2 0
- ALDH3A2 1
- ALDH5A1 1
- ALDOA 0
- ALG1 1
- ALG11 0
- ALG12 1
- ALG14 1
- ALG2 0
- ALG3 1
- ALG6 1
- ALG8 1
- ALG9 1
- ALK 1
- ALMS1 1
- ALOX12B 1
- ALOXE3 1
- ALS2 1
- ALX4 1
- AMELX 1
- AMPD1 0
- ANK1 1
- ANK2 1
- ANKH 1
- ANKRD1 0
- ANKRD26 1
- ANO10 1
- ANO5 0
- ANTXR2 1
- AP1S3 0
- AP4B1 1
- AP4E1 1
- AP4M1 1
- APC 1
- APOA5 1
- APOB 1
- APOE 0
- APP 0
- APRT 1
- APTX 1
- AR 1
- ARFGEF2 1
- ARHGAP31 0
- ARHGEF9 0
- ARID1A 0
- ARID1B 1
- ARL13B 0
- ARMC4 1
- ARSE 0
- ARX 1
- ASCL1 0
- ASNS 0
- ASPA 1
- ATIC 0
- ATM 1
- ATN1 0
- ATP1A2 1
- ATP1A3 0
- ATP2A1 1
- ATP2B2 1
- ATP6AP2 0
- ATP6V0A2 1
- ATP8B1 1
- ATR 0
- ATRX 1
- AUH 2
- AXL 0
- B3GAT3 0
- B3GLCT 1
- B4GALT1 0
- B9D2 0
- BAAT 1
- BAG3 0
- BANF1 0
- BARD1 0
- BBS1 1
- BBS10 1
- BBS12 1
- BBS2 1
- BBS4 1
- BBS5 1
- BBS7 1
- BBS9 1
- BCL9 0
- BCS1L 2
- BDNF 0
- BICD2 1
- BIN1 1
- BLM 1
- BLOC1S3 0
- BLOC1S6 0
- BMPR1A 1
- BMPR2 1
- BNC2 0
- BPGM 0
- BRAF 1
- BVES 0
- C8A 1
- CACNA1A 1
- CACNA1D 0
- CACNA1F 1
- CACNA2D1 0
- CACNB2 0
- CAPN3 1
- CARS2 0
- CASK 1
- CASP10 0
- CAV3 1
- CAVIN4 0
- CBL 1
- CC2D2A 1
- CCDC103 0
- CCDC39 1
- CCDC40 1
- CCDC50 0
- CCDC78 0
- CCDC88C 0
- CD164 1
- CD2AP 0
- CD36 0
- CD46 0
- CD81 1
- CD96 0
- CDAN1 1
- CDH1 0
- CDK5RAP2 1
- CDKL5 1
- CDKN2A 1
- CDON 0
- CDSN 1
- CDT1 1
- CEACAM16 0
- CENPJ 0
- CEP152 1
- CEP250 1
- CEP290 1
- CEP41 0
- CEP78 1
- CEP83 1
- CFB 0
- CFC1 1
- CFHR1 0
- CFHR3 0
- CFHR4 0
- CFHR5 0
- CFL2 1
- CHD2 1
- CHD7 1
- CHEK2 0
- CHKB 1
- CHM 1
- CHRM2 0
- CHRNA2 0
- CHRNG 2
- CHST3 0
- CHSY1 0
- CISD2 0
- CITED2 0
- CLCN1 0
- CLCN5 1
- CLDN1 0
- CLDN19 1
- CLDN9 1
- CLMP 0
- CLN8 3
- CLRN1 1
- CNGB3 1
- CNTNAP2 0
- COG4 0
- COG5 1
- COG7 0
- COL17A1 1
- COL4A6 2
- COL5A1 1
- COL5A2 1
- COL6A1 1
- COL6A2 1
- COL6A3 1
- COL7A1 1
- COQ8B 2
- COQ9 2
- COX4I2 0
- CPOX 0
- CPZ 0
- CR2 1
- CREBBP 1
- CRELD1 0
- CRLF1 1
- CRYM 1
- CSF1R 0
- CSF2RA 1
- CSF2RB 0
- CSRP3 0
- CSTA 0
- CSTB 1
- CTC1 1
- CTDP1 0
- CTF1 0
- CTR9 1
- CTSD 2
- CTSK 1
- CUL7 1
- CYCS 0
- CYP4F22 1
- CYP7A1 0
- D2HGDH 2
- DAG1 0
- DAPK3 0
- DBH 0
- DCTN1 0
- DCX 1
- DDB2 1
- DDHD1 0
- DDOST 0
- DDR2 1
- DECR1 0
- DFNA5 1
- DGKE 0
- DGUOK 2
- DHCR24 0
- DIABLO 0
- DIAPH1 1
- DKC1 1
- DLC1 0
- DLD 2
- DLL3 1
- DMPK 1
- DMXL2 1
- DNAAF1 1
- DNAAF2 0
- DNAAF3 0
- DNAAF5 0
- DNAH11 1
- DNAH5 1
- DNAI1 1
- DNAI2 0
- DNAJB6 1
- DNAJC19 0
- DNAJC5 0
- DNAL1 0
- DNM2 1
- DOLK 2
- DPM1 0
- DPP6 0
- DPYD 0
- DTHD1 0
- DTNA 0
- DTNBP1 0
- DYSF 1
- ECE1 0
- EDA 1
- EDAR 1
- EDARADD 1
- EFEMP2 0
- EFHC1 0
- EFTUD2 1
- EGR2 1
- EIF2B1 0
- ELN 1
- ELP1 1
- EMD 1
- EPB42 0
- EPCAM 0
- EPHX1 0
- EPM2A 1
- EPS8L2 1
- ERBB3 0
- ERCC1 0
- ERCC2 1
- ERCC3 0
- ERCC5 1
- ERCC6 1
- ERCC8 1
- ESCO2 1
- EVC 1
- EVC2 1
- EXT1 1
- EXT2 1
- EYA1 1
- EYA4 1
- EZH2 1
- F11 1
- F2 1
- F5 1
- FAAH2 0
- FAM111B 0
- FAM126A 1
- FAM161A 1
- FAM20C 1
- FAM58A 1
- FANCE 0
- FANCF 0
- FANCL 0
- FANCM 0
- FAS 1
- FBLN5 0
- FBN2 1
- FGD1 1
- FGD4 1
- FGFR1 1
- FGFR2 1
- FHL1 0
- FHL2 0
- FKBPL 0
- FKRP 1
- FKTN 1
- FLCN 1
- FLG 0
- FLNA 1
- FLNC 0
- FMO3 0
- FOXC1 1
- FOXC2 1
- FOXF1 1
- FOXF2 0
- FOXH1 0
- FOXI1 1
- FRAS1 1
- FREM1 0
- FREM2 0
- FSCN2 0
- FTCD 0
- FTL 1
- FXN 1
- GABRA1 0
- GABRG2 1
- GAN 2
- GATA1 0
- GATA5 0
- GATA6 0
- GATAD1 0
- GBE1 0
- GCLC 0
- GCSH 0
- GDAP1 1
- GDF1 0
- GDNF 0
- GFER 0
- GFM1 2
- GFPT1 2
- GJA1 1
- GJB1 1
- GJC2 1
- GLB1 2
- GLE1 0
- GLI2 0
- GLI3 1
- GLRB 0
- GLUL 0
- GMPPA 0
- GNPTAB 1
- GNPTG 2
- GNS 1
- GPC3 1
- GPC4 0
- GPC6 0
- GPHN 0
- GPR143 1
- GPR161 1
- GPSM2 1
- GPX1 0
- GRHL2 1
- GRIN2A 0
- GSS 1
- GTF2H5 0
- GUCY2C 0
- GYG1 0
- H19 0
- HAMP 0
- HARS 0
- HARS2 1
- HAS2 0
- HCCS 0
- HCFC1 1
- HCN4 0
- HDAC8 1
- HERC2 0
- HEXA 1
- HEXB 1
- HFE 0
- HFE2 0
- HGSNAT 1
- HINT1 1
- HMBS 0
- HNF1B 0
- HOMER2 1
- HOMEZ 0
- HOXA1 0
- HPD 2
- HPRT1 2
- HPS1 1
- HPS3 1
- HPS4 1
- HPS5 1
- HPS6 0
- HRAS 1
- HSD17B10 2
- HSD17B3 1
- HSD17B4 1
- HSPB8 1
- HSPG2 1
- HTRA1 1
- HYDIN 0
- HYLS1 0
- IFT122 0
- IFT43 0
- IFT80 0
- IGBP1 0
- IGHMBP2 1
- ILK 0
- INSR 1
- INVS 1
- IQCB1 1
- IRF6 1
- IRS1 0
- ISCU 0
- ISL1 0
- ISPD 1
- ITGA3 1
- ITGA6 0
- ITGA7 0
- ITGB4 1
- JAG1 1
- JPH2 0
- KANSL1 1
- KARS 2
- KAT6B 1
- KBTBD13 1
- KCNA1 1
- KCNA5 1
- KCND3 0
- KCNE3 0
- KCNE5 0
- KCNJ18 0
- KCNJ5 0
- KCNJ8 0
- KCNQ1OT1 0
- KCNQ2 0
- KCNQ3 0
- KCNQ4 1
- KCNT1 1
- KCTD7 1
- KDM5B 0
- KDM6A 1
- KIF1B 0
- KIF1BP 0
- KIF21A 1
- KIF22 0
- KIT 1
- KLF1 1
- KLHL40 1
- KLHL41 1
- KMT2D 1
- KPTN 0
- KRAS 1
- KRT14 1
- KRT16 1
- KRT17 1
- KRT18 0
- KRT5 1
- KRT6A 1
- KRT6B 0
- KRT8 0
- L1CAM 2
- LAMA3 2
- LAMA4 0
- LAMB2 2
- LAMB3 2
- LAMC2 2
- LAMTOR2 1
- LARGE1 2
- LARS 0
- LARS2 2
- LBR 0
- LDB3 0
- LGI1 0
- LHB 0
- LIAS 1
- LIFR 2
- LITAF 1
- LMNB2 0
- LMOD3 2
- LMX1A 1
- LMX1B 2
- LPIN2 0
- LPP 0
- LRP2 2
- LRP4 2
- LRPPRC 2
- LRRC6 2
- LRRK2 0
- LRSAM1 1
- LTBP4 2
- LUM 0
- LYZ 0
- MAD2L2 1
- MAGI2 2
- MAP2K1 1
- MAP2K2 1
- MAPK10 0
- MAPT 0
- MAT1A 1
- MATN4 0
- MBTPS2 1
- MCCC1 2
- MCCC2 2
- MCOLN1 1
- MCPH1 2
- MECP2 2
- MED12 2
- MED13L 0
- MED20 0
- MED25 2
- MEGF10 2
- MESP2 0
- MFN2 2
- MFSD8 2
- MGAT2 2
- MGP 2
- MIB1 0
- MIR96 0
- MKKS 2
- MKS1 2
- MLC1 2
- MLPH 0
- MOCS2 2
- MOGS 0
- MPDU1 2
- MPV17 2
- MPZ 2
- MPZL2 1
- MRPS16 0
- MRPS22 0
- MSRB3 0
- MSX2 2
- MTHFR 1
- MTHFS 1
- MTM1 2
- MT-ND1 0
- MT-ND4 0
- MT-ND6 0
- MTO1 0
- MUC5B 0
- MUTYH 1
- MYBPC1 2
- MYBPC3 0
- MYCN 2
- MYH14 2
- MYH2 2
- MYH3 2
- MYH6 0
- MYH9 2
- MYLK2 0
- MYO1C 0
- MYO1E 0
- MYO1F 0
- MYO5A 0
- MYO9A 2
- MYOM1 0
- MYOT 0
- MYOZ2 0
- MYPN 0
- NAA10 0
- NAA15 0
- NAGA 2
- NAXE 1
- NBN 2
- NDP 2
- NEB 2
- NEBL 0
- NECTIN1 0
- NEDD4L 0
- NEFL 2
- NEK1 2
- NEK8 2
- NEU1 2
- NEXN 0
- NF1 2
- NF2 2
- NFATC1 0
- NGLY1 2
- NHLRC1 2
- NHP2 0
- NIN 0
- NIPBL 2
- NKX3-2 0
- NLGN3 0
- NLGN4X 1
- NLRP7 0
- NME8 0
- NOG 2
- NOP10 0
- NOTCH1 0
- NOTCH2 2
- NOTCH3 2
- NPHP1 2
- NPHP3 2
- NPHP4 2
- NPHS1 2
- NPPA 0
- NR1H4 0
- NRG1 0
- NRXN1 0
- NSD1 2
- NSDHL 0
- NTRK1 2
- NUB1 0
- NUP155 0
- NUP62 0
- OBSL1 2
- OCA2 2
- OCRL 2
- OFD1 2
- OPA1 2
- OPA3 0
- ORC1 2
- ORC4 0
- ORC6 0
- OSMR 2
- OSTM1 1
- OTUD4 0
- P2RX2 0
- P2RY12 1
- PABPN1 0
- PAK3 1
- PANK2 1
- PAX5 1
- PAX6 2
- PCNT 1
- PDE11A 0
- PDE4D 1
- PDLIM3 0
- PDSS1 0
- PDSS2 0
- PEX1 1
- PEX10 1
- PEX11B 0
- PEX12 1
- PEX13 1
- PEX14 0
- PEX16 0
- PEX19 0
- PEX2 1
- PEX26 1
- PEX3 1
- PEX5 1
- PEX6 1
- PEX7 1
- PFKM 1
- PHF6 1
- PHKA1 0
- PHOX2A 0
- PHOX2B 1
- PHYH 1
- PIEZO2 1
- PIGA 2
- PIK3CA 1
- PINK1 1
- PKHD1 1
- PLA2G6 1
- PLCE1 1
- PLEC 1
- PLN 0
- PLOD1 1
- PLOD2 1
- PLP1 1
- PMM2 1
- PMP22 1
- PNKD 1
- PNKP 1
- PNPLA1 0
- PODXL 0
- POLG 2
- POLH 1
- POMGNT1 1
- POMT1 1
- POMT2 1
- PORCN 1
- POU4F3 1
- PPIB 1
- PPT1 1
- PQBP1 1
- PRDM16 0
- PREPL 0
- PRICKLE1 0
- PRKAG2 0
- PRKCSH 0
- PROC 1
- PRODH 0
- PROKR2 1
- PROS1 1
- PRPS1 0
- PRRX1 0
- PRX 1
- PSAP 1
- PSAT1 0
- PSEN1 0
- PSEN2 0
- PTEN 1
- PTH1R 1
- PTPN11 1
- PYGM 1
- RAB10 0
- RAB23 1
- RAB3GAP1 1
- RAB3GAP2 1
- RAB7A 1
- RAD51B 0
- RAF1 1
- RAI1 1
- RANGRF 0
- RASA1 1
- RBM8A 1
- RECQL4 1
- RELN 0
- REN 1
- RETREG1 1
- RFWD3 1
- RFX6 0
- RHAG 0
- ROR2 1
- RPGR 1
- RPGRIP1L 1
- RPL18 1
- RPL26 1
- RPL27 1
- RPL35 1
- RPS15 1
- RPS15A 1
- RPS27 1
- RPS28 1
- RPS29 1
- RPS6KA3 1
- RRM2B 1
- RS1 1
- RSPH4A 1
- RSPH9 1
- RUNX2 1
- SACS 1
- SALL1 1
- SARS 1
- SC5D 0
- SCARB2 1
- SCN11A 1
- SCN1A 2
- SCN1B 0
- SCN2A 2
- SCN2B 0
- SCN3A 2
- SCN3B 0
- SCN4A 0
- SCN4B 0
- SCN8A 2
- SCO1 0
- SCO2 1
- SCP2 0
- SDHD 2
- SEC63 0
- SELENON 1
- SEMA3A 0
- SERPINA1 2
- SERPINB6 0
- SERPINC1 0
- SERPIND1 0
- SERPING1 1
- SETBP1 1
- SETX 1
- SFTPA2 0
- SFTPB 1
- SFTPC 2
- SGCA 1
- SGCB 1
- SGCD 1
- SGCG 1
- SH3BP2 0
- SH3TC2 1
- SHANK3 1
- SHH 1
- SHOC2 0
- SIL1 1
- SIX1 1
- SIX2 0
- SIX3 1
- SIX5 0
- SKI 1
- SLC11A2 0
- SLC12A3 1
- SLC12A5 0
- SLC12A6 1
- SLC13A5 2
- SLC16A12 0
- SLC17A5 1
- SLC1A3 1
- SLC25A12 0
- SLC25A22 0
- SLC25A4 1
- SLC26A2 1
- SLC27A4 1
- SLC27A5 0
- SLC2A10 1
- SLC33A1 0
- SLC34A2 1
- SLC35A1 0
- SLC35D1 1
- SLC3A1 2
- SLC41A1 0
- SLC45A2 1
- SLC4A10 0
- SLC4A11 1
- SLC4A4 1
- SLC5A2 1
- SLC6A19 1
- SLC6A2 0
- SLC7A9 2
- SLC9A3R1 0
- SLC9A6 1
- SLCO1B1 0
- SLCO1B3 0
- SLCO2A1 1
- SMAD1 0
- SMAD4 1
- SMAD6 0
- SMAD9 0
- SMC1A 1
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- SMPX 1
- SNAP25 1
- SNAP29 0
- SOD1 0
- SORD 1
- SOX10 1
- SOX18 0
- SOX9 1
- SPARC 1
- SPEG 1
- SPINK5 1
- SPRED1 1
- SPTA1 1
- SPTB 1
- SPTLC2 0
- SRCAP 1
- ST14 0
- ST3GAL5 0
- STAC3 1
- STRA6 1
- STS 1
- STXBP1 1
- SUCLA2 1
- SUCLG1 1
- SUFU 1
- SURF1 1
- SYNE4 0
- SYT14 0
- TAB2 0
- TARDBP 0
- TAZ 1
- TBC1D24 1
- TBCE 0
- TBX1 2
- TBX20 0
- TBX5 1
- TCAP 0
- TCOF1 1
- TCTN1 0
- TCTN3 0
- TFAP2A 2
- TFAP2B 2
- TFG 1
- TFR2 0
- TGFB1 0
- TGIF1 0
- TGM1 1
- TGM5 1
- THAP11 2
- THBD 0
- THBS1 0
- THRB 1
- TIMM8A 1
- TJP2 0
- TMC8 0
- TMEM216 0
- TMEM237 0
- TMEM43 2
- TMEM67 1
- TMPO 0
- TNFAIP3 1
- TNFRSF13B 1
- TNFRSF13C 1
- TNFRSF1A 1
- TNNI2 1
- TNNT1 2
- TNNT3 1
- TNXB 0
- TPM2 1
- TPM3 1
- TRAC 1
- TRAPPC2 1
- TRH 0
- TRIM32 1
- TRIM37 2
- TRIP11 0
- TRPM2 0
- TSC1 2
- TSC2 2
- TSEN54 1
- TSFM 0
- TSPEAR 0
- TSPYL1 0
- TSR2 1
- TTC21B 1
- TTC37 1
- TTC7A 2
- TTR 1
- TUBA8 0
- TUBB4B 1
- TWIST1 2
- TWNK 1
- TYMP 1
- TYR 2
- UBA1 0
- UBR1 1
- UCP2 1
- UGT1A4 0
- UGT1A5 0
- UMOD 1
- UQCRB 0
- UQCRQ 0
- UROD 3
- UTP4 0
- VCAN 2
- VCP 2
- VIPAS39 2
- VLDLR 1
- VPS13A 1
- VPS13B 1
- VPS33B 1
- VPS53 0
- VSX1 0
- WDR19 0
- WDR35 0
- WDR36 0
- WDR62 1
- WFS1 1
- WNT3 0
- WNT5A 0
- WNT7A 0
- WRAP53 1
- WRN 1
- YARS2 0
- ZEB2 1
- ZFPM2 0
- ZIC2 1
- ZIC3 1
- ZMPSTE24 2
- ZNF143 2
- ZNF252P 0
- ZNF469 1
- ZNF674 0
BabyScreen+ newborn screening
Gene: OAS1 Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000089127
EnsemblGeneIds (GRCh37): ENSG00000089127
OMIM: 164350, Gene2Phenotype
OAS1 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Green List (high evidence)
Immunodeficiency-100 with pulmonary alveolar proteinosis and hypogammaglobulinemia (IMD100) is primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood.
Treatment: IVIG; BMT is curative.
Non-genetic confirmatory testing: immunoglobulin levels.
Sources: Expert listCreated: 22 Mar 2023, 3:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Publications
Panel version: 0.2040
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
- Tags
- treatable immunological
- OMIM
- 164350
- Clinvar variants
- Variants in OAS1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: oas1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: oas1 has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: OAS1 was added gene: OAS1 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: OAS1. Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OAS1 were set to 34145065; 29455859 Phenotypes for gene: OAS1 were set to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042 Review for gene: OAS1 was set to GREEN