AAAS ABAT ABCA12 ABCA3 ABCA4 ABCB11 ABCB4 ABCC2 ABCC6 ABCC8 ABCD1 ACAD9 ACADM ACADVL ACAT1 ACOX1 ACSF3 ADA ADAMTS2 ADAMTSL4 ADGRV1 AFF2 AGA AGL AGPS AGXT AHI1 AIFM1 AIPL1 AIRE ALDH3A2 ALDH7A1 ALDOB ALG1 ALG13 ALG6 ALMS1 ALPL AMN ANO10 AP1S1 AP3B1 AQP2 AR ARG1 ARL13B ARL6 ARSA ARSB ASS ARX ASAH1 ASL ASNS ASPA ASS1 ATM ATP6V1B1 ATP7A ATP7B ATP8B1 ATRX AVPR2 B9D1 B9D2 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCHE BCKDHA BCKDHB BCS1L BLM BLOC1S3 BLOC1S6 BMP1 BRIP1 BSND BTD* BTK C2CD3 CAD CANT1 CAPN3 CASQ2 CBS CC2D1A CC2D2A CCDC103 CCDC39 CCDC88C CCN6 CD3D CD3E CD40 CD40LG CD59 CDH23 CEP104 CEP120 CEP152 CEP290 CEP41 CERKL CF TR CHAT CHM CHRNE CHRNG CIB2 CIITA CLCN1 CLCN5 CLN3 CLN5 CLN6 CLN8 CLRN1 CNGB3 COL11A2 COL17A1 COL27A1 COL4A3 COL4A4 COL4A5 COL7A1 COLQ COX15 CPLANE1 CPS1 CPT1A CPT2 CRB1 CRTAP CSPP1 CTNS CTSA CTSC CTSD CTSK CYBA CYBB CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1B1 CYP21A2 CYP27A1 CYP27B1 CYP7B1 DBT DCAF17 DCLRE1C DCX DDX11 DGAT1 DGUOK DHCR7 DHDDS DIS3L2 DKC1 DLD DLL3 DMD DNAH11 DNAH5 DNAI1 DNAI2 MT3B DOK7 DPYD DUOX2 DYNC2H1 DYSF EDA EIF2AK3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EMD EPG5 ERCC2 ERCC6 ERCC8 ESCO2 ETFA ETFB ETFDH ETHE1 EVC EVC2 EXOSC3 EYS F11* F2* F5* F8 F9 FAH FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FBP1 FBXO7 FH FHL1 FKBP10 FKRP FKTN FMO3 FMR1 FOXN1 FOXP3 FOXRED1 FRAS1 FREM2 FUCA1 FXN G6PC G6PC3 G6PD * GAA GALC GALE GALK1 GALNS GALNT3 GALT GAMT GATM GBA GBE1 GCDH GCH1 GDF5 GFM1 GHR GJB2 GLA GLB1 GLDC GLE1 GNE GNPAT GNPTAB GNPTG GNS GORAB GP1BA* GP9* GPR56 GRHPR GRIP1 GSS GUCY2D GUSB HADH HADHA HADHB HAMP HAX1 HBA1/HBA2 HBB HCFC1 HEXA HEXB HFE* HFE2 HGD* HGSNAT HLCS HMGCL HMOX1 HOGA1 HPD HPRT1 HPS1 HPS3 HPS4 HPS5 HPS6 HSD17B10 HSD17B3 HSD17B4 HSD3B2 HYAL1 HYLS1 IDS IDUA IGHMBP2 IKBKAP IKBKB IL2RG IL7R INPP5E INVS IQCB1 ISPD ITGA6 ITGB3 ITGB4 IVD JAK3 KCNJ1 KCNJ11 L1CAM LAMA2 LAMA3 LAMB3 2 LARGE1 LCA5 LDLR LDLRAP1 LHX3 LIFR LIG4 LIPA LMBRD1 LOXHD1 LPL LRAT LRP2 LRPPRC LYST MAK MAN2B1 MANBA MCCC1* MCCC2* MCEE MCOLN1 MCPH1 MECP2 MECR MED17 MEFV* MESP2 MFSD8 MID1 MKKS MKS1 MLC1 MLYCD MMAA MMAB MMACHC MMADHC MOCS1 MOCS2 MPI MPL MPV17 MRE11 MTHFR MTM1 MTR MTRR MTTP MUSK MUT MVK MYO15A MYO7A NAGA NAGLU NAGS NBN NCF2 NDRG1 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS4 NDUFS6 NDUFS7 NDUFV1 NEB NEU1 NGLY1 NPC1 NPC2 NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NR0B1 NR2E3 NSMCE3 NTRK1 AVEIA OCA2 OCRL OPA3 OSTM1 OTC OTOA OTOF P3H1 PAH PANK2 PC PCBD1 PCCA PCCB PCDH15 PCNT PDHA1 PDHB PEPD PET100 PEX1 PEX10 PEX12 PEX13 PEX16 PEX2 PEX26 PEX5 PEX6 PEX7 PFKM PGM3 PHGDH PHKB PHKG2 PHYH PORCO PJVK PKHD1 PLA2G6 PLCE1 PLEKHG5 PLOD1 PLP1 PMM2 PNPO POLG POLH POMGNT1 POMT1 POMT2 POR POU1F1 PPT1 PRCD PRDM5 PRF1 PROP1 PRPS1 PSAP PTPRC PTS PUS1 PYGM QDPR RAB23 RAG1 RAG2 RAPSN RARS2 RDH12 RLBP1 RMRP RNASEH2B RNASEH2C RP2 RPE65 RPGR RPGRIP1L RS1 RTEL1 RXYLT1 RYR1 SACS SAMD9 SAMHD1 SBDS SCARB2 SCO2 SEC23B SEPSECS SERPINA1* SGCA SGCB SGCD SGCG SGSH SKIC2 SLC12A1 SLC12A3 SLC12A6 SLC17A5 SLC19A2 SLC19A3 SLC1A4 SLC22A5 SLC25A13 SLC25A15 SLC25A20 SLC26A2 SLC26A3 SLC26A4 SLC27A4 SLC35A3 SLC37A4 SLC38A8 SLC39A4 SLC45A2 SLC4A11 SLC4A4 SLC5A5 SLC6A8 SLC7A7 SMARCAL1 SMN1 SMPD1 SNAP29 SPG11 SPR SRD5A2 ST3GAL5 ESTRELA STX11 STXBP2 SUMF1 SUOX SURF1 SYNE4 TANGO2 TAT TAZ TBCD TBCE TCIRG1 TCN2 TECPR2 TERT TF TFR2 TG TGM1 TH TJP2 TK2 TMC1 TMEM216 TMEM67 TMPRSS3 TNXB TPO TPP1 TREX1 TRIM32 TRIM37 TRMU TSEN2 TSEN54 TSFM TSHB TSHR TTC37 TTC8 TTPA TULP1 TYMP TYR TYRP1 UBA1 UBR1 UNC13D UPB1 USH1C USH2A VDR VLDLR VPS11 VPS13A VPS13B VPS45 VPS53 VRK1 VSX2 WAS WNT10A WRN WWOX XPA XPC ZBTB24 ZFYVE26 ZIC3 ZNF469