基因词典 · 971 个遗传病相关基因

AARS2 1 AASS 1 ABAT 1 ABCA1 1 ABCB11 1 ABCB4 1 ABCB6 1 ABCC2 1 ABCC8 2 ABCD1 3 ABCD3 1 ABCD4 1 ABCG5 1 ABCG8 2 ABHD5 1 ABL1 1 ACAD8 1 ACAD9 1 ACADL 1 ACADM 1 ACADS 2 ACADSB 1 ACADVL 1 ACAN 1 ACAT1 1 ACE 1 ACOX1 2 ACOX2 1 ACSF3 1 ACY1 1 ADA 1 ADAMTS10 1 ADCY3 1 ADK 1 ADSL 1 AEBP1 1 AFF4 1 AGA 1 AGL 1 AGPAT2 2 AGPS 1 AGXT 1 AHCY 2 AIFM1 1 AKR1C2 1 AKR1C4 1 AKR1D1 1 AKT1 1 AKT2 1 ALAD 2 ALAS2 2 ALDH3A2 1 ALDH4A1 1 ALDH5A1 1 ALDH6A1 1 ALDH7A1 1 ALDOB 2 ALG1 1 ALG11 1 ALG12 2 ALG2 2 ALG3 2 ALG6 2 ALG8 2 ALG9 1 ALMS1 2 ALPL 1 AMACR 3 AMT 2 ANGPTL3 1 ANOS1 1 AP1S1 1 AP2S1 1 APOA1 1 APOA2 2 APOA5 3 APOB 2 APOE 3 APOPT1 1 APPL1 1 APRT 1 AQP2 1 AR 1 ARG1 2 ARID1B 1 ARMC5 1 ARSB 1 ARSE 2 ASAH1 1 ASL 2 ASS1 2 ATAD1 1 ATIC 1 ATP13A2 1 ATP1B1 1 ATP6V0A2 1 ATP6V0A4 1 ATP6V1B1 1 ATP6V1B2 1 ATP6V1E1 1 ATP7A 1 ATP7B 4 ATP8B1 1 ATPAF2 1 ATR 2 AUH 1 AURKC 1

B3GALNT2 1 B4GALT1 2 B4GAT1 1 B9D1 1 B9D2 2 BAAT 1 BBIP1 1 BBS1 1 BBS10 1 BBS12 1 BBS4 1 BCKDHA 1 BCKDHB 1 BCOR 1 BCS1L 1 BLK 1 BLM 1 BLVRA 1 BMP1 1 BMP15 2 BMP2 1 BMP4 1 BOLA3 1 BRAF 3 BRWD3 1 BSCL2 2 BSND 1 BTD 2 BTK 2

C8ORF37 1 CA2 1 CACNA1D 1 CACNA1H 1 CACNA1S 2 CASP8 1 CASR 2 CAT 1 CATSPER1 1 CAV1 2 CAVIN1 2 CBS 2 CBX2 1 CC2D2A 1 CCDC115 1 CCDC8 1 CCR5 1 CD40LG 1 CDC73 1 CDH1 1 CDKN1B 1 CDON 1 CEL 1 CENPJ 1 CEP152 1 CEP290 1 CEP63 1 CETP 2 CFTR 1 CHD7 2 CHKB 1 CHRM3 1 CIDEC 1 CISD2 1 CLCN2 1 CLCN5 3 CLCNKA 1 CLCNKB 2 CLDN1 1 CLDN16 1 CLDN19 1 CLMP 1 CLN3 1 CLN5 1 CLN6 1 CLN8 1 CLPP 1 CLPX 1 COA7 1 COG1 2 COG2 1 COG4 2 COG5 2 COG6 1 COG7 1 COG8 2 COL10A1 2 COL1A1 8 COL1A2 6 COL2A1 2 COL5A1 1 COL5A2 1 COL9A1 1 COL9A2 1 COL9A3 1 COMP 3 COX10 1 COX14 1 COX15 1 COX20 1 COX6B1 1 COX8A 1 CP 1 CPS1 1 CPT1A 1 CPT1C 1 CPT2 1 CREBBP 1 CRPPA 1 CRTAP 2 CTH 1 CTLA4 1 CTNS 1 CTRC 1 CTSA 1 CTSC 1 CTSD 1 CUL3 1 CUL4B 1 CUL7 1 CYBA 1 CYC1 1 CYLD 2 CYP11A1 2 CYP11B1 3 CYP11B2 3 CYP17A1 3 CYP19A1 3 CYP21A2 2 CYP27A1 2 CYP27B1 1 CYP2R1 1 CYP7B1 1

D2HGDH 1 DAG1 1 DBH 1 DBT 1 DCAF17 1 DCDC2 1 DDC 2 DGKE 1 DGUOK 1 DHCR24 1 DHCR7 2 DHFR 1 DHH 1 DIAPH2 1 DISP1 1 DLAT 1 DLD 1 DMGDH 1 DMP1 2 DMXL2 1 DNA2 1 DNAJC12 1 DNAJC5 1 DOLK 1 DPAGT1 2 DPM1 2 DPM3 1 DPY19L2 1 DPYD 1 DPYS 1 DUOX2 1 DUOXA2 1 DUSP6 1 DYM 1 DYRK1B 1

EARS2 1 EBP 3 EDA 1 EDAR 1 EDARADD 1 EFEMP2 1 EFL1 1 EGF 1 EIF2AK3 2 EIF2B1 1 EIF2B2 1 EIF2B3 1 EIF2B4 1 EIF2B5 1 ELAC2 1 EMP2 1 ENPP1 4 EP300 1 EPHX1 1 EPHX2 2 EPO 1 ERAL1 1 ERCC2 1 ERCC3 1 ERCC4 1 ERCC5 1 ERCC6 2 ERCC8 2 ESCO2 1 ETFA 1 ETFB 1 ETFDH 1 EVC2 1

F5 2 FAH 2 FAM126A 1 FANCM 1 FAR1 1 FARS2 1 FASTKD2 2 FBLN5 1 FBN1 1 FBP1 1 FBXW7 1 FECH 2 FEZF1 1 FGA 1 FGF17 1 FGF23 3 FGF8 1 FGFR1 1 FGFR2 2 FGFR3 4 FH 1 FIGLA 1 FKBP10 1 FKRP 1 FKTN 1 FLAD1 1 FLRT3 1 FMR1 1 FOLR1 1 FOXC1 1 FOXE1 1 FOXG1 1 FOXL2 1 FOXP3 1 FOXRED1 1 FRAS1 1 FREM2 1 FSHB 1 FSHR 1 FTCD 1 FTH1 1 FTO 1 FUCA1 2 FXYD2 1

G6PC 1 G6PC3 1 GAA 1 GALC 2 GALE 2 GALK1 2 GALNS 1 GALNT3 2 GALT 2 GATA3 1 GATA4 1 GATA6 2 GBA 2 GBE1 1 GCDH 1 GCGR 1 GCH1 1 GCK 3 GCLC 1 GCM2 1 GCSH 2 GDNF 1 GFAP 1 GFM1 1 GGT1 1 GH1 2 GH2 1 GHR 2 GHRHR 2 GJB6 1 GLA 2 GLB1 3 GLDC 1 GLIS3 1 GLRA1 1 GLRB 1 GLUD1 3 GLUL 1 GLYCTK 1 GM2A 1 GMPPB 2 GNA11 2 GNAS 3 GNAS-AS1 1 GNE 1 GNMT 2 GNPAT 1 GNPTAB 1 GNPTG 1 GNRH1 1 GNS 1 GPD1 1 GPD2 1 GPHN 1 GPIHBP1 1 GPNMB 1 GRHL3 1 GRHPR 1 GRIP1 1 GRN 1 GSBS 1 GSN 1 GSS 3 GUSB 1 GYS1 2 GYS2 2

H19 1 H6PD 1 HADH 3 HADHA 1 HADHB 1 HAL 1 HAMP 2 HARS2 1 HCCS 1 HDAC8 1 HESX1 3 HEXA 2 HEXB 1 HFE 2 HFM1 1 HGD 2 HGSNAT 1 HJV 2 HLCS 1 HMBS 2 HMGA1 1 HMGB3 1 HMGCL 3 HMGCS2 2 HNF1A 1 HNF1B 3 HNF4A 1 HOGA1 1 HPD 2 HPRT1 2 HS6ST1 1 HSD11B1 1 HSD11B2 1 HSD17B10 1 HSD17B3 1 HSD17B4 3 HSD3B2 3 HSD3B7 1

IC1 1 IDH2 1 IDS 1 IDUA 1 IER3IP1 1 IFITM5 2 IFT27 1 IGF1 1 IGF1R 1 IGF2 1 IGF2BP2 1 IGSF1 2 IL17RD 1 IL1B 1 IL1RN 1 IL2RA 1 ILG10 1 IMPAD1 1 INS 1 INSL3 1 INSR 1 IRF6 1 IRS1 1 IRS2 1 ITGA2 1 ITIH4 1 ITPA 1 IVD 1 IYD 1

JAG1 3 JAK2 2

KANK2 1 KCNJ1 2 KCNJ11 3 KCNJ18 1 KCNJ5 1 KCNMB1 1 KCNQ1OT1 1 KCNT1 1 KCNT2 1 KDM5C 1 KDM6A 2 KHK 1 KIF14 1 KIF1B 1 KISS1 1 KISS1R 2 KLF11 1 KLHL10 1 KLHL3 1 KLLN 1 KMT2D 2 KRAS 3 KRT85 1 KYNU 1

L2HGDH 1 LAMP2 2 LARGE1 2 LARS2 1 LBR 2 LCAT 1 LCT 1 LDHA 1 LDLR 3 LDLRAP1 1 LHB 1 LHX3 3 LHX4 3 LIFR 1 LIPA 3 LIPC 2 LIPE 1 LIPI 1 LIPT1 1 LMBRD1 1 LMNA 1 LPL 3 LRPPRC 1 LTBP2 1 LTBP4 1 LYRM4 1 LYST 1 LYZ 1 LZTFL1 1 LZTR1 4

MAFA 1 MAGED2 1 MAGEL2 1 MAGI2 1 MAN2B1 2 MANBA 1 MAOA 1 MAP2K1 1 MAP2K2 1 MAP3K1 1 MAPK8IP1 1 MARS 1 MAT1A 2 MATN3 1 MAX 1 MC2R 1 MC4R 1 MCCC1 1 MCCC2 1 MCEE 1 MCM9 1 MCOLN1 1 MECOM 1 MECP2 2 MEGF8 1 MEN1 2 MET 1 MFSD8 1 MGAT2 2 MGME1 1 MID1 1 MKKS 1 MKRN3 1 MKS1 1 MLYCD 1 MMAA 1 MMAB 1 MMACHC 1 MMADHC 1 MNX1 1 MOCOS 1 MOCS1 1 MOCS2 1 MOGS 2 MPDU1 1 MPI 2 MPL 2 MPV17 2 MRAP 1 MRAS 2 MRE11 1 MRPL3 1 MRPL44 1 MRPS16 1 MRPS22 2 MT-TE 1 MT-TK 1 MT-TL1 1 MTFMT 1 MTHFR 2 MTNR1B 1 MTO1 1 MTR 1 MTRR 1 MTTP 2 MUT 1 MYH8 1 MYH9 3 MYO5B 1

NADK2 1 NAGA 2 NAGLU 1 NAGS 2 NANOS1 1 NCF1 1 NCF2 1 NDN 1 NDUFA10 1 NDUFA12 1 NDUFA9 1 NDUFAF2 1 NDUFAF6 1 NDUFS3 1 NDUFS7 1 NDUFS8 1 NEK8 1 NEU1 1 NEUROD1 1 NEUROG3 1 NFE2L2 1 NFKB1A 1 NIN 1 NKX2-5 1 NKX3-2 1 NNT 1 NOBOX 1 NOTCH2 2 NPC1 1 NPC2 1 NPHP1 1 NPHP3 1 NPHS1 1 NPHS2 1 NR0B1 3 NR1H4 1 NR3C1 1 NR3C2 2 NR5A1 4 NRAS 2 NUP107 2 NUP133 1 NUP160 1 NUP205 1 NUP85 1 NUP93 1 NUS1 1

OAT 1 OBSL1 1 OCRL 1 OPHN1 1 OSMR 1 OTC 2 OTX2 2 OXCT1 1

P3H1 2 PAH 2 PANK2 1 PAX4 1 PAX6 1 PAX8 1 PC 2 PCBD1 2 PCCA 2 PCCB 1 PCNA 1 PCNT 2 PCSK1 1 PCSK9 3 PDE11A 1 PDE8B 2 PDHA1 1 PDHB 1 PDHX 1 PDP1 1 PDX1 2 PET100 1 PEX1 5 PEX10 2 PEX11B 1 PEX12 2 PEX13 2 PEX14 1 PEX16 3 PEX19 2 PEX2 2 PEX26 2 PEX3 2 PEX5 2 PEX6 3 PEX7 3 PFKM 1 PGAM2 1 PHEX 3 PHF6 1 PHGDH 1 PHKA1 1 PHKA2 1 PHKB 1 PHKG2 1 PHYH 1 PIGM 1 PIK3CA 1 PIK3R1 1 PITX2 1 PKD2 1 PKHD1 1 PKLR 2 PLAU 1 PLCE1 1 PLIN1 1 PLP1 1 PMM2 2 PNP 1 PNPLA2 1 PNPLA6 1 PNPO 1 PNPT1 1 POF1B 1 POLE 1 POLG 1 POMC 1 PON1 1 POR 3 POU1F1 3 PPARG 1 PPIB 2 PPOX 1 PPP1R17 1 PPT1 1 PRF1 1 PRKAR1A 3 PRODH 1 PROK2 1 PROKR2 1 PROP1 3 PRPS1 1 PRSS1 1 PSAP 4 PSMC3IP 1 PTCH1 1 PTEN 1 PTF1A 1 PTH 1 PTH1R 3 PTPN11 3 PTPN22 1 PTPRC 1 PTPRO 1 PTRF 2 PTS 1 PYGL 1 PYGM 1

QDPR 1

RAB23 1 RAF1 2 RAG1 1 RAI1 1 RBBP8 2 RBM28 1 RBMA 1 RECQL4 1 REN 2 RET 1 RETN 1 RFT1 1 RFX6 1 RIT1 2 RMND1 1 RNASEH2A 1 RNASEH2B 1 RNASEH2C 1 RNU4ATAC 1 ROR2 1 RPGRIP1L 1 RPIA 1 RPS6KA3 1 RRM2B 1

SAMD9 1 SARS2 1 SBDS 1 SCN4A 1 SCNN1A 1 SCNN1B 1 SCNN1G 1 SCO1 1 SDCCAG8 1 SDHA 1 SDHAF1 1 SDHAF2 1 SDHB 2 SDHD 3 SECISBP2 1 SEMA3A 1 SEMA3E 1 SERPINA1 1 SERPINF1 2 SERPINF2 1 SERPINH1 1 SETBP1 1 SFXN4 1 SGPL1 1 SGSH 1 SH2D1A 1 SHH 1 SHOX 2 SI 1 SIX3 1 SLC10A2 1 SLC12A1 2 SLC12A3 2 SLC16A1 2 SLC17A5 2 SLC19A2 1 SLC22A5 1 SLC25A13 2 SLC25A15 3 SLC25A20 1 SLC25A4 1 SLC26A2 2 SLC26A3 1 SLC26A4 2 SLC26A8 1 SLC2A1 1 SLC2A2 2 SLC30A10 1 SLC30A8 1 SLC34A3 3 SLC35A1 2 SLC35A2 1 SLC35C1 1 SLC35D1 2 SLC36A2 1 SLC37A4 1 SLC39A14 1 SLC39A8 1 SLC3A1 1 SLC40A1 2 SLC46A1 1 SLC4A1 1 SLC4A4 1 SLC5A1 1 SLC5A5 1 SLC6A20 1 SLC6A5 1 SLC7A7 1 SLC7A9 1 SLCO1B1 1 SLCO1B3 1 SMARCAL1 1 SMPD1 1 SNRPN 1 SOD2 1 SOHLH1 1 SOS1 2 SOS2 1 SOX2 1 SOX3 1 SP7 1 SPATA16 1 SPECC1L 1 SPINK1 1 SPR 1 SPRY4 1 SPTA1 1 SRY 2 ST3GAL5 1 STAG3 1 STAR 2 STAT3 1 STAT5B 1 SUCLA2 1 SUCLG1 1 SUGCT 1 SUMF1 1 SUMO4 1 SUOX 1 SURF1 1 SYCE1 1 SYCP3 1

TAC3 1 TACR3 1 TAF4B 1 TAT 2 TAZ 1 TBCE 1 TBX1 1 TBX15 1 TBXAS1 1 TCF7L2 1 TCTN2 1 TF 1 TFR2 2 TG 1 TGIF1 1 THRA 1 THRB 1 TJP2 1 TK2 1 TMEM107 1 TMEM165 2 TMEM199 1 TMEM216 1 TMEM231 1 TMEM38B 1 TMEM67 1 TNFRSF1A 1 TPO 1 TPP1 1 TRAPPC2 1 TREX1 1 TRH 1 TRIM32 1 TRIM37 1 TRIP11 2 TRMU 1 TRPM6 1 TRPV6 1 TSFM 1 TSHB 1 TSHR 3 TTR 3 TUFM 1 TWNK 2 TYMP 1

UBR1 1 UCP2 1 UGT1A1 2 UMPS 1 UPB1 1 UQCC2 1 UQCRB 1 UQCRC2 1 UQCRQ 1 UROD 1 UROS 2 USF1 1 USP9Y 1 UTY 1

VAX1 1 VDR 1 VEGF 1 VEGFA 1 VHL 1 VIPAS39 1 VPS13B 2 VPS33B 1

WDPCP 1 WDR11 1 WFS1 2 WISP3 1 WNK1 2 WNK4 1 WNT4 1 WNT5A 1 WNT7A 1 WT1 2

XDH 1 XY 2

ZFPM2 1 ZIC2 1 ZMYND15 1