Genes grouped by the clinical area they're associated with. Click any underlined symbol to read the gene's plain-English overview on Jeen Library - or browse per-gene carrier frequencies for population-stratified rates.
Gene category
Associated genes
Conditions
Metabolic Disorders 273 genes
AAAS,
ABCA12,
ABCA3,
ABCA4,
ABCB11,
ABCB4,
ABCC8,
ABCD1,
ABCD4,
ACAD9,
ACADM,
ACADS,
ACADSB,
ACADVL,
ACAT1,
ACOX1,
ACSF3,
ADA,
AGA,
AGL,
AGPAT2,
AGPS,
AGXT,
AHCY,
AKR1D1,
ALDH3A2,
ALDH4A1,
ALDH7A1,
ALDOB,
ALG1,
ALG12,
ALG3,
ALG6,
ALOX12B,
ALOXE3,
ALPL,
AMN,
AMT,
ANTXR2,
ARG1,
ARSA,
ARSB,
ARSE,
ASL,
ASNS,
ASPA,
ASS1,
ATM,
ATP7A,
ATP7B,
ATP8B1,
BCHE,
BCKDHA,
BCKDHB,
BCS1L,
BTD,
CANT1,
CBS,
COQ4,
COX10,
COX15,
COX20,
COX6B1,
CP,
CPS1,
CPT1A,
CPT2,
CRADD,
CTNS,
CTSA,
CTSC,
CTSD,
CTSF,
CTSK,
CYBA,
CYBB,
DBT,
DDC,
DGUOK,
DHCR24,
DHCR7,
DHDDS,
DLAT,
DLD,
DPYD,
ETFA,
ETFB,
ETFDH,
ETHE1,
FA2H,
FAH,
FBP1,
FBXL4,
FH,
FMO3,
FOLR1,
FOXRED1,
FTCD,
FUCA1,
FXN,
G6PC,
G6PC3,
G6PD,
GAA,
GALC,
GALE,
GALK1,
GALNS,
GALNT3,
GALT,
GAMT,
GATM,
GBA,
GBE1,
GCDH,
GDAP1,
GFPT1,
GLA,
GLB1,
GLDC,
GNE,
GNS,
GRHPR,
GSS,
GUSB,
GYS2,
HADH,
HADHA,
HADHB,
HAX1,
HCFC1,
HEXA,
HEXB,
HGD,
HGSNAT,
HINT1,
HLCS,
HMGCL,
HMGCS2,
HOGA1,
HPD,
HPS1,
HPS3,
HPS4,
HPS5,
HPS6,
HSD17B10,
HSD17B3,
HSD17B4,
HSD3B2,
HSD3B7,
HYAL1,
IDH3B,
IDS,
IDUA,
ITPA,
IVD,
LIPA,
LIPN,
MAT1A,
MCCC1,
MCCC2,
MCEE,
MCOLN1,
MLYCD,
MMAA,
MMAB,
MMACHC,
MMADHC,
MPI,
MPV17,
MTHFD1,
MTHFR,
MTR,
MTRR,
MTTP,
MUT,
MVK,
NAGA,
NAGLU,
NAGS,
NEU1,
NGLY1,
NPC1,
NPC2,
OAT,
OTC,
PAH,
PANK2,
PC,
PCBD1,
PCCA,
PCCB,
PDHA1,
PDHB,
PDHX,
PDP1,
PEPD,
PET100,
PFKM,
PGK1,
PHGDH,
PHKA1,
PHKA2,
PHKB,
PHKG2,
PHYH,
PMM2,
PNP,
PNPO,
PPT1,
PRPS1,
PSAP,
PTS,
PYGL,
PYGM,
QDPR,
RTEL1,
SACS,
SAMD9,
SAMHD1,
SARS2,
SBDS,
SCO1,
SCO2,
SERPINA1,
SGSH,
SLC12A1,
SLC12A3,
SLC16A2,
SLC17A5,
SLC19A2,
SLC19A3,
SLC22A5,
SLC25A13,
SLC25A15,
SLC25A20,
SLC26A2,
SLC26A3,
SLC27A4,
SLC34A3,
SLC35A3,
SLC37A4,
SLC39A4,
SLC3A1,
SLC45A2,
SLC46A1,
SLC4A1,
SLC5A5,
SLC6A19,
SLC6A8,
SLC7A7,
SLC7A9,
SMPD1,
SPR,
SUCLA2,
SUMF1,
SUOX,
SURF1,
TAT,
TERT,
TF,
TFR2,
TG,
TGM1,
TH,
TK2,
TPP1,
TTPA,
TYMP,
TYR,
TYRP1,
UGT1A1 Inborn errors of metabolism including amino acid disorders (PKU, maple syrup urine disease), organic acidemias, fatty acid oxidation disorders, urea cycle disorders, glycogen storage diseases, lysosomal storage disorders, peroxisomal disorders, and other metabolic conditions
Blood & Coagulation Disorders 28 genes
CDAN1,
EPB42,
F11,
F2,
F5,
F7,
F8,
F9,
GP1BA,
GP9,
HAMP,
HBA1,
HBA2,
HBB,
HFE,
HJV,
ITGA2B,
ITGA6,
ITGB3,
ITGB4,
MPL,
NBEAL2,
NBN,
NCF2,
NCF4,
PGM3,
RHAG,
SEC23B Hemoglobinopathies (sickle cell disease, thalassemias), bleeding disorders (hemophilia), platelet disorders, iron metabolism disorders, and other hematological conditions
Neuromuscular Disorders 31 genes
CAPN3,
CASP14,
CHAT,
CHRNE,
CHRNG,
CLCN1,
COLQ,
DMD,
DOK7,
DYSF,
ESCO2,
FHL1,
FKBP10,
FKRP,
FKTN,
MTM1,
MTMR2,
NEB,
PLEKHG5,
POMGNT1,
POMT1,
POMT2,
RAPSN,
SELENON,
SGCA,
SGCB,
SGCD,
SGCG,
SLC5A7,
SMN1,
TAZ Muscular dystrophies (Duchenne, Becker, limb-girdle), congenital myopathies, spinal muscular atrophy, myasthenic syndromes, and neuromuscular junction disorders
Sensory Disorders (Hearing & Vision) 53 genes
ABCA4,
AIPL1,
CDH23,
CERKL,
CHM,
CHST6,
CIB2,
CLRN1,
CNGA1,
CNGA3,
CNGB1,
CNGB3,
CRB1,
CRYL1,
EYS,
FAM161A,
GJB1,
GJB2,
GJB6,
GPR143,
GUCY2D,
LHCGR,
LOXHD1,
LRAT,
MAK,
MYO7A,
NDP,
NR2E3,
OCA2,
OPA3,
OTOF,
PCDH15,
PDE6A,
PJVK,
PRCD,
PRDM5,
RD3,
RDH12,
RDH5,
RLBP1,
RP2,
RPE65,
RPGR,
RPGRIP1,
RPGRIP1L,
RS1,
SAG,
SLC26A4,
TMPRSS3,
USH1C,
USH1G,
USH2A,
WHRN Hereditary hearing loss (non-syndromic and syndromic), Usher syndrome, retinitis pigmentosa, Leber congenital amaurosis, albinism, color blindness, and other vision/hearing disorders
Neurological & Neurodevelopmental Disorders 68 genes
ADGRG1,
ADGRV1,
AFF2,
AHI1,
AIMP1,
AIRE,
ARX,
ATRX,
BLM,
BRWD3,
CC2D1A,
CC2D2A,
CDCA7,
CLP1,
CNTNAP2,
CTC1,
CUL4B,
DCX,
DLG3,
DNMT3B,
EIF2AK3,
EIF2B1,
EIF2B2,
EIF2B3,
EIF2B4,
EIF2B5,
ELP1,
EMD,
FGD1,
FMR1,
FTSJ1,
HELLS,
IGHMBP2,
IL1RAPL1,
INPP5E,
KCTD7,
KDM5C,
L1CAM,
LMNA,
LPAR6,
LRPPRC,
MED17,
MEFV,
MEGF8,
MID1,
MLC1,
MRE11,
NDRG1,
NHEJ1,
NONO,
OPHN1,
PAK3,
PHF8,
PQBP1,
PUS1,
SH3TC2,
SLC12A6,
SLC1A4,
SMARCAL1,
SYN1,
SYNE4,
THOC2,
UPF3B,
VPS13A,
VPS13B,
ZDHHC9,
ZNF469,
ZNF711 Intellectual disability, autism spectrum disorders, epilepsy, leukodystrophies, spastic paraplegias, ataxias, and other neurological conditions affecting brain development and function
Connective Tissue & Skeletal Disorders 39 genes
ADAMTS2,
ALMS1,
BMPER,
COL11A2,
COL17A1,
COL27A1,
COL4A3,
COL4A4,
COL4A5,
COL7A1,
CRTAP,
CUL7,
DDR2,
DLL3,
EDA,
EFEMP2,
EVC,
EVC2,
GDF5,
GRIP1,
KIF14,
LAMA2,
LAMA3,
LAMB3,
LAMC2,
LARS,
LTBP4,
MESP2,
OBSL1,
P3H1,
PLOD1,
PLOD2,
PLP1,
PRICKLE1,
SERPINF1,
TNXB,
WISP3,
WNT1,
WNT10A Ehlers-Danlos syndromes, osteogenesis imperfecta, chondrodysplasias, epidermolysis bullosa, Alport syndrome, and other connective tissue and skeletal disorders
Primary Immunodeficiencies 46 genes
AK2,
BTK,
CD247,
CD3D,
CD3E,
CD3G,
CD40LG,
CD59,
CD8A,
CIITA,
CORO1A,
DCLRE1C,
DOCK8,
FOXN1,
FOXP3,
IKBKB,
IL2RA,
IL2RG,
IL7R,
JAK3,
LCK,
LIG4,
MALT1,
NDUFA11,
NDUFAF2,
NDUFAF5,
NDUFS4,
NDUFS6,
NDUFS7,
NDUFV1,
PRF1,
PRKDC,
PTPRC,
RAG1,
RAG2,
RFX5,
RFXANK,
RFXAP,
SNX10,
SP110,
STK4,
STX11,
STXBP2,
UNC13D,
WAS,
ZAP70 Severe combined immunodeficiency (SCID), X-linked agammaglobulinemia, chronic granulomatous disease, Wiskott-Aldrich syndrome, and other primary immunodeficiency disorders
Kidney & Urinary Tract Disorders 26 genes
AGPAT2,
AQP2,
ATP6V0A2,
ATP6V0A4,
ATP6V1B1,
ATP6V1E1,
AVPR2,
CLCN5,
CLCNKB,
GNPAT,
GNPTAB,
GNPTG,
INVS,
KCNJ1,
KCNJ11,
LMAN1,
LMBRD1,
NPHP1,
NPHP3,
NPHS1,
NPHS2,
OCRL,
PKHD1,
SLC4A11,
VDR,
VLDLR Polycystic kidney disease, nephrotic syndrome, renal tubular acidosis, Dent disease, Bartter syndrome, Gitelman syndrome, and other kidney disorders
Endocrine Disorders 36 genes
AMH,
AMHR2,
AR,
CASR,
CYP11A1,
CYP11B1,
CYP11B2,
CYP17A1,
CYP19A1,
CYP1B1,
CYP21A2,
CYP27A1,
CYP27B1,
CYP4F22,
CYP7B1,
DUOX2,
DUOXA2,
GHR,
GHRHR,
GNRHR,
IYD,
LHX3,
LIFR,
NR0B1,
POU1F1,
POU3F4,
PROP1,
SRD5A2,
ST3GAL5,
STAR,
TBX19,
TCIRG1,
TPO,
TRHR,
TSHB,
TSHR Congenital adrenal hyperplasia, disorders of sex development, congenital hypothyroidism, growth hormone deficiency, and other endocrine disorders
Ciliopathies & Cell Biology Disorders 44 genes
B9D1,
B9D2,
BBS1,
BBS10,
BBS12,
BBS2,
BBS4,
BBS5,
BBS7,
BBS9,
BSND,
CASQ2,
CCDC103,
CCDC151,
CCDC39,
CCDC8,
CCDC88C,
CEP104,
CEP152,
CEP290,
DNAH5,
DNAI1,
DNAI2,
DNAL1,
DYNC2H1,
HYLS1,
IFT140,
MKKS,
MKS1,
RAB23,
RSPH9,
SDCCAG8,
SPATA7,
TCTN1,
TCTN2,
TCTN3,
TMEM138,
TMEM216,
TMEM231,
TMEM237,
TMEM38B,
TMEM67,
TMEM70,
TRAPPC11 Bardet-Biedl syndrome, Joubert syndrome, Meckel syndrome, nephronophthisis, primary ciliary dyskinesia, and other ciliopathy disorders
Cancer Predisposition & DNA Repair 33 genes
ATM,
BLM,
BRIP1,
DDB2,
ERCC2,
ERCC3,
ERCC4,
ERCC5,
ERCC6,
ERCC8,
FANCA,
FANCB,
FANCC,
FANCD2,
FANCE,
FANCF,
FANCG,
FANCI,
FANCL,
LYST,
MRE11,
NBN,
POLG,
POLH,
POLR1C,
RNASEH2A,
RNASEH2B,
RNASEH2C,
TREX1,
WRN,
XPA,
XPC,
ZBTB24 Fanconi anemia, xeroderma pigmentosum, Bloom syndrome, ataxia-telangiectasia, and other DNA repair disorders that predispose to cancer
Peroxisomal Disorders 15 genes
GNPAT,
PEX1,
PEX10,
PEX11B,
PEX12,
PEX13,
PEX14,
PEX16,
PEX19,
PEX2,
PEX26,
PEX3,
PEX5,
PEX6,
PEX7 Zellweger spectrum disorders, rhizomelic chondrodysplasia punctata, and other peroxisome biogenesis disorders
Other Genetic Conditions 329 genes
A4GALT,
AARS2,
ABAT,
ABCC2,
ABCC6,
ABCG5,
ACAD8,
ACP5,
ACSL4,
ADA2,
ADAMTS13,
ADAMTSL4,
ADK,
AGRN,
AICDA,
AIFM1,
AIMP2,
ALG13,
AMPD2,
ANO10,
ANO5,
AP1S1,
AP1S2,
AP3B1,
AP3D1,
AP4M1,
APOPT1,
ARHGEF9,
ARL13B,
ARL2BP,
ARL6,
ARNT2,
ASAH1,
ATP13A2,
ATP1A2,
ATP5MD,
ATP6AP1,
ATP8A2,
B3GALT6,
B4GALT1,
BCAP31,
BLOC1S3,
BLOC1S6,
BMP1,
BRAT1,
C19orf12,
C19orf70,
C2CD3,
C8orf37,
CAD,
CAVIN1,
CCDC174,
CD40,
CENPJ,
CEP120,
CEP41,
CERS3,
CFH,
CFTR,
CHMP1A,
CHRNB1,
CLCF1,
CLN3,
CLN5,
CLN6,
CLN8,
CLRN2,
COA7,
COASY,
COG5,
COG6,
COG7,
COL11A1,
COL6A2,
CPLANE1,
CRB2,
CRLF1,
CSPP1,
CTPS1,
CWC27,
DCAF17,
DDHD2,
DDRGK1,
DDX11,
DEGS1,
DGAT1,
DIAPH1,
DIS3L2,
DKC1,
DNAH11,
DOLK,
DPAGT1,
DSE,
DTNBP1,
ECEL1,
EIF2AK4,
EML1,
EOGT,
EPCAM,
EPG5,
ERBB3,
ERCC6L2,
EXOSC3,
FAM126A,
FANCM,
FAT4,
FBXO7,
FERMT1,
FOXI1,
FRAS1,
FREM2,
FRMD4A,
FRMPD4,
FRRS1L,
GATC,
GCH1,
GCSH,
GFM1,
GH1,
GJC2,
GLE1,
GMPPA,
GORAB,
GPHN,
HBD,
HIKESHI,
HMOX1,
HNRNPH2,
HPRT1,
HSPD1,
IFNAR1,
IFT172,
IFT27,
IGSF1,
IL10RA,
INSR,
IQCB1,
ISPD,
ITPR1,
KCNJ10,
KIAA0586,
KPTN,
KRT14,
KY,
LAMP2,
LARGE1,
LARP7,
LCA5,
LDLR,
LDLRAP1,
LIPH,
LONP1,
LPL,
LRBA,
LRP2,
LTBP3,
MADD,
MAN1B1,
MAN2B1,
MANBA,
MBTPS2,
MCPH1,
MECP2,
MECR,
MED25,
MFSD8,
MGP,
MOCS1,
MOCS2,
MPDU1,
MSN,
MUSK,
MYBPC1,
MYO15A,
MYO18B,
NARS2,
NBAS,
NCF1,
NDE1,
NDUFAF6,
NDUFB11,
NDUFS2,
NEK8,
NIPAL4,
NPHP4,
NSMCE3,
NTRK1,
NUP188,
NUP62,
ORC4,
OSTM1,
OTOA,
OTUD6B,
PAX7,
PCDH12,
PCNT,
PDE6G,
PDX1,
PGAP3,
PGM1,
PIDD1,
PIGA,
PIGN,
PIGQ,
PIGS,
PIGT,
PIP5K1C,
PKLR,
PLA2G6,
PLAA,
PLCE1,
PLD1,
PNPLA1,
POC1A,
POLR3B,
POMGNT2,
POR,
PPIB,
PPP1R13L,
PRDM12,
PREPL,
PYCR1,
RARS2,
RASGRP1,
RAX,
RBL2,
RBM10,
RECQL4,
RMRP,
ROGDI,
RPL10,
RPS6KA3,
RXYLT1,
RYR1,
SASH3,
SCAPER,
SCARB2,
SCN9A,
SDHA,
SDR9C7,
SELENOI,
SELENON,
SEPSECS,
SGP11,
SGP21,
SGP7,
SGSM3,
SKIV2L,
SLC18A3,
SLC29A3,
SLC2A10,
SLC2A2,
SLC30A9,
SLC35A2,
SLC38A8,
SLC4A4,
SLC6A9,
SNAP29,
SPATA5,
SPEG,
SPG11,
SPG21,
SPG7,
SPINK5,
STAT1,
STS,
SZT2,
TAF2,
TANGO2,
TBCB,
TBCD,
TBCE,
TCN2,
TECPR2,
TECRL,
TFE3,
TFRC,
THG1L,
TIMM50,
TJP2,
TKT,
TMC1,
TMEM107,
TMEM94,
TNFRSF9,
TNFSF11,
TNNT1,
TNR,
TRAF3IP1,
TRAPPC6B,
TRDN,
TRIM32,
TRIM37,
TRIP11,
TRMU,
TRPM6,
TSEN2,
TSEN34,
TSEN54,
TSFM,
TSPEAR,
TTC37,
TTC7A,
TTC8,
TULP1,
TWNK,
UBA1,
UBR1,
UNC80,
UNG,
UPB1,
UQCRQ,
USP9X,
VPS11,
VPS37A,
VPS45,
VPS53,
VRK1,
VSX2,
WDPCP,
WDR34,
WDR62,
WWOX,
XRCC2,
YARS,
ZFYVE26,
ZIC3,
ZNF341,
ZNHIT3 Various rare genetic disorders including mitochondrial disorders, neuronal ceroid lipofuscinoses, spastic paraplegias, and other miscellaneous genetic conditions