Trait
Constipation
Infrequent or difficult evacuation of feces.
Summary
- Also called
- Costiveness, Dyschezia
- Body system
- Abnormality of the digestive system
Reference genomeGRCh38hg38
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Changes in these genes cause rare conditions in which Constipation is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Always | In 1 condition |
| ATP6V1B1ATPase H+ transporting V1 subunit B1 | Always | In 1 condition |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Always | In 1 condition |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Always | In 1 condition |
| DNM1dynamin 1 | Always | In 1 condition |
| EDAectodysplasin A | Always | In 1 condition |
| EIF4A2eukaryotic translation initiation factor 4A2 | Always | In 1 condition |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Always | In 1 condition |
| FDXRferredoxin reductase | Always | In 1 condition |
| GTF3C3general transcription factor IIIC subunit 3 | Always | In 1 condition |
| HOXA13homeobox A13 | Always | In 1 condition |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Always | In 1 condition |
| JPH1junctophilin 1 | Always | In 1 condition |
| KCNK3potassium two pore domain channel subfamily K member 3 | Always | In 1 condition |
| KDM1Alysine demethylase 1A | Always | In 1 condition |
| KDM2Blysine demethylase 2B | Always | In 1 condition |
| KMT2Blysine methyltransferase 2B | Always | In 1 condition |
| MBD5methyl-CpG binding domain protein 5 | Always | In 2 conditions |
| MPV17mitochondrial inner membrane protein MPV17 | Always | In 1 condition |
| MSL2MSL complex subunit 2 | Always | In 1 condition |
| RAB32RAB32, member RAS oncogene family | Always | In 1 condition |
| RAB3ARAB3A, member RAS oncogene family | Always | In 1 condition |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Always | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| TAF4TATA-box binding protein associated factor 4 | Always | In 1 condition |
| VPS51VPS51 subunit of GARP complex | Always | In 1 condition |
| ZMYM3zinc finger MYM-type containing 3 | Always | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Very often (80–99%) | In 1 condition |
| ATMATM serine/threonine kinase | Very often (80–99%) | In 1 condition |
| ATP7AATPase copper transporting alpha | Very often (80–99%) | In 1 condition |
| BMPR1Abone morphogenetic protein receptor type 1A | Very often (80–99%) | In 1 condition |
| BRCA1BRCA1 DNA repair associated | Very often (80–99%) | In 1 condition |
| BRCA2BRCA2 DNA repair associated | Very often (80–99%) | In 1 condition |
| CHEK2checkpoint kinase 2 | Very often (80–99%) | In 1 condition |
| CHST14carbohydrate sulfotransferase 14 | Very often (80–99%) | In 2 conditions |
| CTNScystinosin, lysosomal cystine transporter | Very often (80–99%) | In 1 condition |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Very often (80–99%) | In 1 condition |
| DEAF1DEAF1 transcription factor | Very often (80–99%) | In 1 condition |
| ECE1endothelin converting enzyme 1 | Very often (80–99%) | In 1 condition |
| EDN3endothelin 3 | Very often (80–99%) | In 2 conditions |
Show 375 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| EDNRBendothelin receptor type B | Very often (80–99%) | In 2 conditions |
| EPCAMepithelial cell adhesion molecule | Very often (80–99%) | In 1 condition |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Very often (80–99%) | In 1 condition |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Very often (80–99%) | In 1 condition |
| FOXE1forkhead box E1 | Very often (80–99%) | In 1 condition |
| GDNFglial cell derived neurotrophic factor | Very often (80–99%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 2 conditions |
| MEFVMEFV innate immunity regulator, pyrin | Very often (80–99%) | In 1 condition |
| MITFmelanocyte inducing transcription factor | Very often (80–99%) | In 1 condition |
| MLH1mutL homolog 1 | Very often (80–99%) | In 1 condition |
| MSH2mutS homolog 2 | Very often (80–99%) | In 1 condition |
| MSH6mutS homolog 6 | Very often (80–99%) | In 1 condition |
| MUTYHmutY DNA glycosylase | Very often (80–99%) | In 1 condition |
| NALCNsodium leak channel, non-selective | Very often (80–99%) | In 3 conditions |
| NKX2-1NK2 homeobox 1 | Very often (80–99%) | In 1 condition |
| NKX2-5NK2 homeobox 5 | Very often (80–99%) | In 2 conditions |
| NPATnuclear protein, coactivator of histone transcription | Very often (80–99%) | In 1 condition |
| NRTNneurturin | Very often (80–99%) | In 1 condition |
| PAX8paired box 8 | Very often (80–99%) | In 4 conditions |
| PCCApropionyl-CoA carboxylase subunit alpha | Very often (80–99%) | In 2 conditions |
| PCCBpropionyl-CoA carboxylase subunit beta | Very often (80–99%) | In 2 conditions |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Very often (80–99%) | In 2 conditions |
| PMS1PMS1 homolog 1, mismatch repair system component | Very often (80–99%) | In 1 condition |
| PMS2PMS1 homolog 2, mismatch repair system component | Very often (80–99%) | In 1 condition |
| POLD1DNA polymerase delta 1, catalytic subunit | Very often (80–99%) | In 1 condition |
| POLEDNA polymerase epsilon, catalytic subunit | Very often (80–99%) | In 1 condition |
| RETret proto-oncogene | Very often (80–99%) | In 5 conditions |
| RPS20ribosomal protein S20 | Very often (80–99%) | In 1 condition |
| SCNN1Asodium channel epithelial 1 subunit alpha | Very often (80–99%) | In 1 condition |
| SCNN1Bsodium channel epithelial 1 subunit beta | Very often (80–99%) | In 1 condition |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Very often (80–99%) | In 1 condition |
| SEMA3Csemaphorin 3C | Very often (80–99%) | In 1 condition |
| SEMA3Dsemaphorin 3D | Very often (80–99%) | In 1 condition |
| SEMA4Asemaphorin 4A | Very often (80–99%) | In 1 condition |
| SLC26A4solute carrier family 26 member 4 | Very often (80–99%) | In 2 conditions |
| SMOsmoothened, frizzled class receptor | Very often (80–99%) | In 1 condition |
| SOX10SRY-box transcription factor 10 | Very often (80–99%) | In 2 conditions |
| SREBF1sterol regulatory element binding transcription factor 1 | Very often (80–99%) | In 1 condition |
| TCF4transcription factor 4 | Very often (80–99%) | In 2 conditions |
| TGFBR2transforming growth factor beta receptor 2 | Very often (80–99%) | In 1 condition |
| TSHRthyroid stimulating hormone receptor | Very often (80–99%) | In 3 conditions |
| WACWW domain containing adaptor with coiled-coil | Very often (80–99%) | In 3 conditions |
| AFF4ALF transcription elongation factor 4 | Often (30–79%) | In 2 conditions |
| APCAPC regulator of Wnt signaling pathway | Often (30–79%) | In 1 condition |
| APC2APC regulator of Wnt signaling pathway 2 | Often (30–79%) | In 1 condition |
| AQP2aquaporin 2 | Often (30–79%) | In 2 conditions |
| ARVCFARVCF delta catenin family member | Often (30–79%) | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Often (30–79%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Often (30–79%) | In 1 condition |
| AVPR2arginine vasopressin receptor 2 | Often (30–79%) | In 2 conditions |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Often (30–79%) | In 1 condition |
| BCL10BCL10 immune signaling adaptor | Often (30–79%) | In 1 condition |
| BIRC3baculoviral IAP repeat containing 3 | Often (30–79%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Often (30–79%) | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Often (30–79%) | In 1 condition |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Often (30–79%) | In 1 condition |
| CAMTA1calmodulin binding transcription activator 1 | Often (30–79%) | In 1 condition |
| CASZ1castor zinc finger 1 | Often (30–79%) | In 1 condition |
| CAVIN1caveolae associated protein 1 | Often (30–79%) | In 1 condition |
| CDKL5cyclin dependent kinase like 5 | Often (30–79%) | In 2 conditions |
| CDONcell adhesion associated, oncogene regulated | Often (30–79%) | In 4 conditions |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Often (30–79%) | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Often (30–79%) | In 1 condition |
| CHRM3cholinergic receptor muscarinic 3 | Often (30–79%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Often (30–79%) | In 1 condition |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Often (30–79%) | In 1 condition |
| CNTNAP2contactin associated protein 2 | Often (30–79%) | In 1 condition |
| COL7A1collagen type VII alpha 1 chain | Often (30–79%) | In 2 conditions |
| COMTcatechol-O-methyltransferase | Often (30–79%) | In 1 condition |
| COQ2coenzyme Q2, polyprenyltransferase | Often (30–79%) | In 2 conditions |
| CREBBPCREB binding lysine acetyltransferase | Often (30–79%) | In 3 conditions |
| CRIPTOcripto, EGF-CFC family member | Often (30–79%) | In 4 conditions |
| CSNK2A1casein kinase 2 alpha 1 | Often (30–79%) | In 1 condition |
| CTSHcathepsin H | Often (30–79%) | In 1 condition |
| DACT1dishevelled binding antagonist of beta catenin 1 | Often (30–79%) | In 1 condition |
| DDCdopa decarboxylase | Often (30–79%) | In 2 conditions |
| DDHD2DDHD domain containing 2 | Often (30–79%) | In 1 condition |
| DHPSdeoxyhypusine synthase | Often (30–79%) | In 1 condition |
| DISP1dispatched RND transporter family member 1 | Often (30–79%) | In 4 conditions |
| DLL1delta like canonical Notch ligand 1 | Often (30–79%) | In 4 conditions |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Often (30–79%) | In 1 condition |
| DPF2double PHD fingers 2 | Often (30–79%) | In 1 condition |
| DSEdermatan sulfate epimerase | Often (30–79%) | In 1 condition |
| DUOX2dual oxidase 2 | Often (30–79%) | In 2 conditions |
| DUOXA2dual oxidase maturation factor 2 | Often (30–79%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Often (30–79%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Often (30–79%) | In 1 condition |
| ELNelastin | Often (30–79%) | In 2 conditions |
| EP300EP300 lysine acetyltransferase | Often (30–79%) | In 2 conditions |
| EPG5ectopic P-granules 5 autophagy tethering factor | Often (30–79%) | In 1 condition |
| EXT2exostosin glycosyltransferase 2 | Often (30–79%) | In 2 conditions |
| FBXW7F-box and WD repeat domain containing 7 | Often (30–79%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Often (30–79%) | In 4 conditions |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 3 conditions |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Often (30–79%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Often (30–79%) | In 1 condition |
| FOXH1forkhead box H1 | Often (30–79%) | In 4 conditions |
| FOXP1forkhead box P1 | Often (30–79%) | In 2 conditions |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Often (30–79%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Often (30–79%) | In 1 condition |
| GAS1growth arrest specific 1 | Often (30–79%) | In 4 conditions |
| GGT1gamma-glutamyltransferase 1 | Often (30–79%) | In 1 condition |
| GJC2gap junction protein gamma 2 | Often (30–79%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Often (30–79%) | In 5 conditions |
| GP1BBglycoprotein Ib platelet subunit beta | Often (30–79%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Often (30–79%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Often (30–79%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Often (30–79%) | In 1 condition |
| HCRThypocretin neuropeptide precursor | Often (30–79%) | In 1 condition |
| HESX1HESX homeobox 1 | Often (30–79%) | In 3 conditions |
| HIRAhistone cell cycle regulator | Often (30–79%) | In 1 condition |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Often (30–79%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Often (30–79%) | In 1 condition |
| HMBShydroxymethylbilane synthase | Often (30–79%) | In 2 conditions |
| HPSE2heparanase 2 (inactive) | Often (30–79%) | In 2 conditions |
| HSPG2heparan sulfate proteoglycan 2 | Often (30–79%) | In 1 condition |
| IGHimmunoglobulin heavy locus | Often (30–79%) | In 1 condition |
| IYDiodotyrosine deiodinase | Often (30–79%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Often (30–79%) | In 1 condition |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Often (30–79%) | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Often (30–79%) | In 2 conditions |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Often (30–79%) | In 1 condition |
| KITKIT proto-oncogene, receptor tyrosine kinase | Often (30–79%) | In 2 conditions |
| KMT2Alysine methyltransferase 2A | Often (30–79%) | In 1 condition |
| LHX3LIM homeobox 3 | Often (30–79%) | In 1 condition |
| LHX4LIM homeobox 4 | Often (30–79%) | In 2 conditions |
| LIMK1LIM domain kinase 1 | Often (30–79%) | In 1 condition |
| LMX1BLIM homeobox transcription factor 1 beta | Often (30–79%) | In 2 conditions |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | Often (30–79%) | In 2 conditions |
| LUZP1leucine zipper protein 1 | Often (30–79%) | In 1 condition |
| MALT1MALT1 paracaspase | Often (30–79%) | In 1 condition |
| MC2Rmelanocortin 2 receptor | Often (30–79%) | In 1 condition |
| MDH2malate dehydrogenase 2 | Often (30–79%) | In 2 conditions |
| MECP2methyl-CpG binding protein 2 | Often (30–79%) | In 1 condition |
| MED12mediator complex subunit 12 | Often (30–79%) | In 4 conditions |
| MED12Lmediator complex subunit 12L | Often (30–79%) | In 1 condition |
| MED25mediator complex subunit 25 | Often (30–79%) | In 2 conditions |
| METTL27methyltransferase like 27 | Often (30–79%) | In 1 condition |
| MLXIPLMLX interacting protein like | Often (30–79%) | In 1 condition |
| MMP23Bmatrix metallopeptidase 23B | Often (30–79%) | In 1 condition |
| MOGmyelin oligodendrocyte glycoprotein | Often (30–79%) | In 1 condition |
| MRAPmelanocortin 2 receptor accessory protein | Often (30–79%) | In 1 condition |
| MRPS34mitochondrial ribosomal protein S34 | Often (30–79%) | In 1 condition |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Often (30–79%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Often (30–79%) | In 1 condition |
| NGFnerve growth factor | Often (30–79%) | In 1 condition |
| NNTnicotinamide nucleotide transhydrogenase | Often (30–79%) | In 1 condition |
| NODALnodal growth differentiation factor | Often (30–79%) | In 4 conditions |
| NSD1nuclear receptor binding SET domain protein 1 | Often (30–79%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Often (30–79%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Often (30–79%) | In 2 conditions |
| P2RY11purinergic receptor P2Y11 | Often (30–79%) | In 1 condition |
| PACS1phosphofurin acidic cluster sorting protein 1 | Often (30–79%) | In 2 conditions |
| PDGFRAplatelet derived growth factor receptor alpha | Often (30–79%) | In 1 condition |
| PDPNpodoplanin | Often (30–79%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Often (30–79%) | In 1 condition |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Often (30–79%) | In 1 condition |
| PLCH1phospholipase C eta 1 | Often (30–79%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 1 condition |
| PORCNporcupine O-acyltransferase | Often (30–79%) | In 1 condition |
| POU1F1POU class 1 homeobox 1 | Often (30–79%) | In 2 conditions |
| POU4F1POU class 4 homeobox 1 | Often (30–79%) | In 1 condition |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Often (30–79%) | In 1 condition |
| PPOXprotoporphyrinogen oxidase | Often (30–79%) | In 2 conditions |
| PRDM16PR/SET domain 16 | Often (30–79%) | In 1 condition |
| PRKCZprotein kinase C zeta | Often (30–79%) | In 1 condition |
| PROP1PROP paired-like homeobox 1 | Often (30–79%) | In 3 conditions |
| PTCH1patched 1 | Often (30–79%) | In 4 conditions |
| RAI1retinoic acid induced 1 | Often (30–79%) | In 2 conditions |
| REREarginine-glutamic acid dipeptide repeats | Often (30–79%) | In 1 condition |
| RFC2replication factor C subunit 2 | Often (30–79%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Often (30–79%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Often (30–79%) | In 1 condition |
| RNU5B-1RNA, U5B small nuclear 1 | Often (30–79%) | In 1 condition |
| RREB1ras responsive element binding protein 1 | Often (30–79%) | In 1 condition |
| SALL1spalt like transcription factor 1 | Often (30–79%) | In 1 condition |
| SCN10Asodium voltage-gated channel alpha subunit 10 | Often (30–79%) | In 1 condition |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Often (30–79%) | In 2 conditions |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Often (30–79%) | In 1 condition |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Often (30–79%) | In 2 conditions |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Often (30–79%) | In 2 conditions |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Often (30–79%) | In 4 conditions |
| SDHCsuccinate dehydrogenase complex subunit C | Often (30–79%) | In 3 conditions |
| SEC24CSEC24 homolog C, COPII component | Often (30–79%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Often (30–79%) | In 4 conditions |
| SIsucrase-isomaltase | Often (30–79%) | In 1 condition |
| SIK3SIK family kinase 3 | Often (30–79%) | In 1 condition |
| SIX3SIX homeobox 3 | Often (30–79%) | In 5 conditions |
| SKISKI proto-oncogene | Often (30–79%) | In 1 condition |
| SLC1A3solute carrier family 1 member 3 | Often (30–79%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Often (30–79%) | In 1 condition |
| SLC5A5solute carrier family 5 member 5 | Often (30–79%) | In 2 conditions |
| SLC6A3solute carrier family 6 member 3 | Often (30–79%) | In 2 conditions |
| SLC6A8solute carrier family 6 member 8 | Often (30–79%) | In 2 conditions |
| SLC9A6solute carrier family 9 member A6 | Often (30–79%) | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Often (30–79%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Often (30–79%) | In 1 condition |
| SPARTspartin | Often (30–79%) | In 1 condition |
| SPENspen family transcriptional repressor | Often (30–79%) | In 2 conditions |
| STAG2STAG2 cohesin complex component | Often (30–79%) | In 2 conditions |
| STARsteroidogenic acute regulatory protein | Often (30–79%) | In 1 condition |
| STILSTIL centriolar assembly protein | Often (30–79%) | In 4 conditions |
| STX1Asyntaxin 1A | Often (30–79%) | In 1 condition |
| STXBP1syntaxin binding protein 1 | Often (30–79%) | In 1 condition |
| TAF1TATA-box binding protein associated factor 1 | Often (30–79%) | In 1 condition |
| TBCDtubulin folding cofactor D | Often (30–79%) | In 1 condition |
| TBL2transducin beta like 2 | Often (30–79%) | In 1 condition |
| TBX1T-box transcription factor 1 | Often (30–79%) | In 1 condition |
| TGthyroglobulin | Often (30–79%) | In 1 condition |
| TGIF1TGFB induced factor homeobox 1 | Often (30–79%) | In 4 conditions |
| THtyrosine hydroxylase | Often (30–79%) | In 1 condition |
| TLK2tousled like kinase 2 | Often (30–79%) | In 1 condition |
| TMEM270transmembrane protein 270 | Often (30–79%) | In 1 condition |
| TNFRSF1ATNF receptor superfamily member 1A | Often (30–79%) | In 1 condition |
| TNFSF4TNF superfamily member 4 | Often (30–79%) | In 1 condition |
| TPOthyroid peroxidase | Often (30–79%) | In 1 condition |
| TSHBthyroid stimulating hormone subunit beta | Often (30–79%) | In 1 condition |
| TSPOAP1TSPO associated protein 1 | Often (30–79%) | In 1 condition |
| TTRtransthyretin | Often (30–79%) | In 2 conditions |
| TXNRD2thioredoxin reductase 2 | Often (30–79%) | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Often (30–79%) | In 2 conditions |
| UBE3Bubiquitin protein ligase E3B | Often (30–79%) | In 1 condition |
| UBE4Bubiquitination factor E4B | Often (30–79%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Often (30–79%) | In 1 condition |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Often (30–79%) | In 2 conditions |
| VPS37DVPS37D subunit of ESCRT-I | Often (30–79%) | In 1 condition |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| WDR26WD repeat domain 26 | Often (30–79%) | In 2 conditions |
| YME1L1YME1 like 1 ATPase | Often (30–79%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Often (30–79%) | In 4 conditions |
| ZNF365zinc finger protein 365 | Often (30–79%) | In 1 condition |
| ADNPactivity dependent neuroprotector homeobox | Sometimes (5–29%) | In 1 condition |
| AFG2AAAA ATPase AFG2A | Sometimes (5–29%) | In 1 condition |
| ALADaminolevulinate dehydratase | Sometimes (5–29%) | In 1 condition |
| ALDOBaldolase, fructose-bisphosphate B | Sometimes (5–29%) | In 1 condition |
| AMNamnion associated transmembrane protein | Sometimes (5–29%) | In 1 condition |
| AMOTL1angiomotin like 1 | Sometimes (5–29%) | In 1 condition |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Sometimes (5–29%) | In 1 condition |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| ATN1atrophin 1 | Sometimes (5–29%) | In 1 condition |
| ATRXATRX chromatin remodeler | Sometimes (5–29%) | In 3 conditions |
| CD96CD96 molecule | Sometimes (5–29%) | In 1 condition |
| CDC73cell division cycle 73 | Sometimes (5–29%) | In 2 conditions |
| CDK13cyclin dependent kinase 13 | Sometimes (5–29%) | In 1 condition |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Sometimes (5–29%) | In 1 condition |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Sometimes (5–29%) | In 1 condition |
| CHMP1Acharged multivesicular body protein 1A | Sometimes (5–29%) | In 1 condition |
| CILK1ciliogenesis associated kinase 1 | Sometimes (5–29%) | In 1 condition |
| CISD2CDGSH iron sulfur domain 2 | Sometimes (5–29%) | In 1 condition |
| CUBNcubilin | Sometimes (5–29%) | In 1 condition |
| DLSTdihydrolipoamide S-succinyltransferase | Sometimes (5–29%) | In 1 condition |
| DMPKDM1 protein kinase | Sometimes (5–29%) | In 1 condition |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Sometimes (5–29%) | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Sometimes (5–29%) | In 1 condition |
| EPAS1endothelial PAS domain protein 1 | Sometimes (5–29%) | In 1 condition |
| FBXO11F-box protein 11 | Sometimes (5–29%) | In 1 condition |
| FGF13fibroblast growth factor 13 | Sometimes (5–29%) | In 1 condition |
| FHfumarate hydratase | Sometimes (5–29%) | In 1 condition |
| FOXA2forkhead box A2 | Sometimes (5–29%) | In 1 condition |
| FRMD5FERM domain containing 5 | Sometimes (5–29%) | In 1 condition |
| GRB10growth factor receptor bound protein 10 | Sometimes (5–29%) | In 1 condition |
| HEXBhexosaminidase subunit beta | Sometimes (5–29%) | In 1 condition |
| HIVEP2HIVEP zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sometimes (5–29%) | In 3 conditions |
| HTRA2HtrA serine peptidase 2 | Sometimes (5–29%) | In 1 condition |
| KDM6Blysine demethylase 6B | Sometimes (5–29%) | In 1 condition |
| KIF1Bkinesin family member 1B | Sometimes (5–29%) | In 1 condition |
| LAMA3laminin subunit alpha 3 | Sometimes (5–29%) | In 1 condition |
| LAMB3laminin subunit beta 3 | Sometimes (5–29%) | In 1 condition |
| LAMC2laminin subunit gamma 2 | Sometimes (5–29%) | In 1 condition |
| LMNB1lamin B1 | Sometimes (5–29%) | In 1 condition |
| LRRK2leucine rich repeat kinase 2 | Sometimes (5–29%) | In 1 condition |
| MAXMYC associated transcriptional regulator X | Sometimes (5–29%) | In 1 condition |
| MEN1menin 1 | Sometimes (5–29%) | In 1 condition |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Sometimes (5–29%) | In 1 condition |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Sometimes (5–29%) | In 1 condition |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Sometimes (5–29%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sometimes (5–29%) | In 1 condition |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sometimes (5–29%) | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sometimes (5–29%) | In 1 condition |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sometimes (5–29%) | In 1 condition |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Sometimes (5–29%) | In 1 condition |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Sometimes (5–29%) | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sometimes (5–29%) | In 1 condition |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Sometimes (5–29%) | In 1 condition |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Sometimes (5–29%) | In 1 condition |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Sometimes (5–29%) | In 1 condition |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sometimes (5–29%) | In 1 condition |
| NF1neurofibromin 1 | Sometimes (5–29%) | In 1 condition |
| NFIXnuclear factor I X | Sometimes (5–29%) | In 1 condition |
| OTX2orthodenticle homeobox 2 | Sometimes (5–29%) | In 2 conditions |
| PARK7Parkinsonism associated deglycase | Sometimes (5–29%) | In 1 condition |
| PCGF2polycomb group ring finger 2 | Sometimes (5–29%) | In 1 condition |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Sometimes (5–29%) | In 1 condition |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Sometimes (5–29%) | In 1 condition |
| PINK1PTEN induced kinase 1 | Sometimes (5–29%) | In 1 condition |
| PLA2G6phospholipase A2 group VI | Sometimes (5–29%) | In 1 condition |
| PODXLpodocalyxin like | Sometimes (5–29%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Sometimes (5–29%) | In 3 conditions |
| POLG2DNA polymerase gamma 2, accessory subunit | Sometimes (5–29%) | In 2 conditions |
| POLRMTRNA polymerase mitochondrial | Sometimes (5–29%) | In 1 condition |
| PRKNparkin RBR E3 ubiquitin protein ligase | Sometimes (5–29%) | In 1 condition |
| PRNPprion protein (Kanno blood group) | Sometimes (5–29%) | In 2 conditions |
| PROKR2prokineticin receptor 2 | Sometimes (5–29%) | In 1 condition |
| RFX7regulatory factor X7 | Sometimes (5–29%) | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Sometimes (5–29%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sometimes (5–29%) | In 1 condition |
| SATB1SATB homeobox 1 | Sometimes (5–29%) | In 1 condition |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Sometimes (5–29%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Sometimes (5–29%) | In 2 conditions |
| SIN3ASIN3 transcription regulator family member A | Sometimes (5–29%) | In 1 condition |
| SLC25A11solute carrier family 25 member 11 | Sometimes (5–29%) | In 1 condition |
| SLC25A4solute carrier family 25 member 4 | Sometimes (5–29%) | In 1 condition |
| SMPD1sphingomyelin phosphodiesterase 1 | Sometimes (5–29%) | In 2 conditions |
| SNCAsynuclein alpha | Sometimes (5–29%) | In 1 condition |
| SOX2SRY-box transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| SOX3SRY-box transcription factor 3 | Sometimes (5–29%) | In 2 conditions |
| SRCAPSnf2 related CREBBP activator protein | Sometimes (5–29%) | In 1 condition |
| STAT3signal transducer and activator of transcription 3 | Sometimes (5–29%) | In 1 condition |
| SYNJ1synaptojanin 1 | Sometimes (5–29%) | In 1 condition |
| TMEM127transmembrane protein 127 | Sometimes (5–29%) | In 1 condition |
| TWNKtwinkle mtDNA helicase | Sometimes (5–29%) | In 1 condition |
| UCHL1ubiquitin C-terminal hydrolase L1 | Sometimes (5–29%) | In 1 condition |
| VHLvon Hippel-Lindau tumor suppressor | Sometimes (5–29%) | In 2 conditions |
| VPS13Cvacuolar protein sorting 13 homolog C | Sometimes (5–29%) | In 1 condition |
| WFS1wolframin ER transmembrane glycoprotein | Sometimes (5–29%) | In 1 condition |
| WSB2WD repeat and SOCS box containing 2 | Sometimes (5–29%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Sometimes (5–29%) | In 3 conditions |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| CLCNKBchloride voltage-gated channel Kb | Rarely (1–4%) | In 1 condition |
| NAB2NGFI-A binding protein 2 | Rarely (1–4%) | In 1 condition |
| PORcytochrome p450 oxidoreductase | Rarely (1–4%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Rarely (1–4%) | In 1 condition |
| SLC12A3solute carrier family 12 member 3 | Rarely (1–4%) | In 2 conditions |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| STAT6signal transducer and activator of transcription 6 | Rarely (1–4%) | In 1 condition |
| ACTG2actin gamma 2, smooth muscle | Not recorded | In 1 condition |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Not recorded | In 1 condition |
| ALPLalkaline phosphatase, biomineralization associated | Not recorded | In 1 condition |
| ARID2AT-rich interaction domain 2 | Not recorded | In 1 condition |
| ATXN2ataxin 2 | Not recorded | In 1 condition |
| ATXN3ataxin 3 | Not recorded | In 1 condition |
| ATXN8OSATXN8 opposite strand lncRNA | Not recorded | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Not recorded | In 1 condition |
| CASRcalcium sensing receptor | Not recorded | In 1 condition |
| CPOXcoproporphyrinogen oxidase | Not recorded | In 1 condition |
| DESdesmin | Not recorded | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Not recorded | In 1 condition |
| ELP1elongator acetyltransferase complex subunit 1 | Not recorded | In 1 condition |
| FLNAfilamin A | Not recorded | In 1 condition |
| FOXG1forkhead box G1 | Not recorded | In 1 condition |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Not recorded | In 1 condition |
| GBA1glucosylceramidase beta 1 | Not recorded | In 1 condition |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Not recorded | In 1 condition |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Not recorded | In 1 condition |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Not recorded | In 1 condition |
| MAGEL2MAGE family member L2 | Not recorded | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Not recorded | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Not recorded | In 1 condition |
| MAPTmicrotubule associated protein tau | Not recorded | In 1 condition |
| MLYCDmalonyl-CoA decarboxylase | Not recorded | In 1 condition |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Not recorded | In 1 condition |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Not recorded | In 1 condition |
| NRXN1neurexin 1 | Not recorded | In 1 condition |
| SLC12A1solute carrier family 12 member 1 | Not recorded | In 1 condition |
| SNCAIPsynuclein alpha interacting protein | Not recorded | In 1 condition |
| TBL1Xtransducin beta like 1 X-linked | Not recorded | In 1 condition |
| TBPTATA-box binding protein | Not recorded | In 1 condition |
| TCF20transcription factor 20 | Not recorded | In 1 condition |
| THRAthyroid hormone receptor alpha | Not recorded | In 1 condition |
| TYMPthymidine phosphorylase | Not recorded | In 1 condition |
| UNC80unc-80 subunit of NALCN channel complex | Not recorded | In 1 condition |
| VANGL1VANGL planar cell polarity protein 1 | Not recorded | In 1 condition |
| ZMIZ1zinc finger MIZ-type containing 1 | Not recorded | In 1 condition |
| ZSWIM6zinc finger SWIM-type containing 6 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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