Trait
Diarrhea
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Summary
- Also called
- Watery stool, Diarrhoea
- Body system
- Abnormality of the digestive system
Reference genomeGRCh38hg38
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Changes in these genes cause rare conditions in which Diarrhea 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 |
|---|---|---|
| ABCB11ATP binding cassette subfamily B member 11 | Always | In 2 conditions |
| ABCB4ATP binding cassette subfamily B member 4 | Always | In 1 condition |
| ADAadenosine deaminase | Always | In 2 conditions |
| AK2adenylate kinase 2 | Always | In 2 conditions |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Always | In 2 conditions |
| ANO1anoctamin 1 | Always | In 1 condition |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Always | In 1 condition |
| APOA1apolipoprotein A1 | Always | In 1 condition |
| ATP8B1ATPase phospholipid transporting 8B1 | Always | In 2 conditions |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Always | In 1 condition |
| CD79ACD79a molecule | Always | In 2 conditions |
| CD79BCD79b molecule | Always | In 2 conditions |
| CPT1Acarnitine palmitoyltransferase 1A | Always | In 1 condition |
| DGAT1diacylglycerol O-acyltransferase 1 | Always | In 1 condition |
| DNM1Ldynamin 1L | Always | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Always | In 1 condition |
| FEM1Bfem-1 homolog B | Always | In 1 condition |
| GRWD1glutamate rich WD repeat containing 1 | Always | In 1 condition |
| HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 | Always | In 1 condition |
| IL2RBinterleukin 2 receptor subunit beta | Always | In 1 condition |
| IRF4interferon regulatory factor 4 | Always | In 2 conditions |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Always | In 1 condition |
| KCNK3potassium two pore domain channel subfamily K member 3 | Always | In 1 condition |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| LCKLCK proto-oncogene, Src family tyrosine kinase | Always | In 1 condition |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Always | In 1 condition |
| MCM10minichromosome maintenance 10 replication initiation factor | Always | In 1 condition |
| MPImannose phosphate isomerase | Always | In 2 conditions |
| MYO1Amyosin IA | Always | In 1 condition |
| NCF4neutrophil cytosolic factor 4 | Always | In 1 condition |
| OTULINOTU deubiquitinase with linear linkage specificity | Always | In 1 condition |
| PERCC1proline and glutamate rich with coiled coil 1 | Always | In 1 condition |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Always | In 1 condition |
| PIK3CGphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | Always | In 1 condition |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Always | In 1 condition |
| RIPK1receptor interacting serine/threonine kinase 1 | Always | In 1 condition |
| RNU6ATACRNA, U6atac small nuclear | Always | In 1 condition |
| SAR1Bsecretion associated Ras related GTPase 1B | Always | In 2 conditions |
| SGSM3small G protein signaling modulator 3 | Always | In 1 condition |
| SIsucrase-isomaltase | Always | In 2 conditions |
Show 276 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SKIC2SKI2 subunit of superkiller complex | Always | In 1 condition |
| SLC46A1solute carrier family 46 member 1 | Always | In 2 conditions |
| TRACT cell receptor alpha constant | Always | In 1 condition |
| WNT2BWnt family member 2B | Always | In 1 condition |
| BLNKB cell linker | Very often (80–99%) | In 1 condition |
| BMPR1Abone morphogenetic protein receptor type 1A | Very often (80–99%) | In 2 conditions |
| CD4CD4 molecule | Very often (80–99%) | In 1 condition |
| EFL1elongation factor like GTPase 1 | Very often (80–99%) | In 1 condition |
| HADHhydroxyacyl-CoA dehydrogenase | Very often (80–99%) | In 1 condition |
| HLA-Bmajor histocompatibility complex, class I, B | Very often (80–99%) | In 3 conditions |
| IGHMimmunoglobulin heavy constant mu | Very often (80–99%) | In 1 condition |
| IGLL1immunoglobulin lambda like polypeptide 1 | Very often (80–99%) | In 1 condition |
| IKZF1IKAROS family zinc finger 1 | Very often (80–99%) | In 1 condition |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Very often (80–99%) | In 1 condition |
| MVKmevalonate kinase | Very often (80–99%) | In 3 conditions |
| NEUROG3neurogenin 3 | Very often (80–99%) | In 2 conditions |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Very often (80–99%) | In 3 conditions |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Very often (80–99%) | In 2 conditions |
| POLGDNA polymerase gamma, catalytic subunit | Very often (80–99%) | In 2 conditions |
| PTENphosphatase and tensin homolog | Very often (80–99%) | In 1 condition |
| RECQL4RecQ like helicase 4 | Very often (80–99%) | In 3 conditions |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Very often (80–99%) | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Very often (80–99%) | In 1 condition |
| SDHCsuccinate dehydrogenase complex subunit C | Very often (80–99%) | In 1 condition |
| SGSHN-sulfoglucosamine sulfohydrolase | Very often (80–99%) | In 1 condition |
| SLC19A2solute carrier family 19 member 2 | Very often (80–99%) | In 1 condition |
| SLC5A1solute carrier family 5 member 1 | Very often (80–99%) | In 1 condition |
| SPI1Spi-1 proto-oncogene | Very often (80–99%) | In 1 condition |
| SYKspleen associated tyrosine kinase | Very often (80–99%) | In 1 condition |
| TCF3transcription factor 3 | Very often (80–99%) | In 1 condition |
| TNFRSF1ATNF receptor superfamily member 1A | Very often (80–99%) | In 1 condition |
| TSHRthyroid stimulating hormone receptor | Very often (80–99%) | In 2 conditions |
| TYMPthymidine phosphorylase | Very often (80–99%) | In 2 conditions |
| ACAT1acetyl-CoA acetyltransferase 1 | Often (30–79%) | In 1 condition |
| AIREautoimmune regulator | Often (30–79%) | In 1 condition |
| ALDOBaldolase, fructose-bisphosphate B | Often (30–79%) | In 1 condition |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Often (30–79%) | In 1 condition |
| ANTXR2ANTXR cell adhesion molecule 2 | Often (30–79%) | In 1 condition |
| APCAPC regulator of Wnt signaling pathway | Often (30–79%) | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Often (30–79%) | In 2 conditions |
| 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 |
| AVParginine vasopressin | Often (30–79%) | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Often (30–79%) | In 1 condition |
| CAV1caveolin 1 | Often (30–79%) | In 1 condition |
| CBLCbl proto-oncogene | Often (30–79%) | In 1 condition |
| CD40LGCD40 ligand | Often (30–79%) | In 1 condition |
| CD55CD55 molecule (Cromer blood group) | Often (30–79%) | In 1 condition |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Often (30–79%) | In 2 conditions |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Often (30–79%) | In 1 condition |
| CIITAclass II major histocompatibility complex transactivator | Often (30–79%) | In 1 condition |
| CLPBClpB family mitochondrial disaggregase | Often (30–79%) | In 1 condition |
| COG7component of oligomeric golgi complex 7 | Often (30–79%) | In 1 condition |
| CPT2carnitine palmitoyltransferase 2 | Often (30–79%) | In 1 condition |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Often (30–79%) | In 2 conditions |
| DDCdopa decarboxylase | Often (30–79%) | In 2 conditions |
| ELANEelastase, neutrophil expressed | Often (30–79%) | In 1 condition |
| ELF4E74 like ETS transcription factor 4 | Often (30–79%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Often (30–79%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Often (30–79%) | In 1 condition |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Often (30–79%) | In 1 condition |
| ETHE1ETHE1 persulfide dioxygenase | Often (30–79%) | In 1 condition |
| FBP1fructose-bisphosphatase 1 | Often (30–79%) | In 1 condition |
| FOCADfocadhesin | Often (30–79%) | In 1 condition |
| GFI1growth factor independent 1 transcriptional repressor | Often (30–79%) | In 1 condition |
| GINS1GINS complex subunit 1 | Often (30–79%) | In 1 condition |
| HNF4Ahepatocyte nuclear factor 4 alpha | Often (30–79%) | In 1 condition |
| HPGD15-hydroxyprostaglandin dehydrogenase | Often (30–79%) | In 1 condition |
| IL2RGinterleukin 2 receptor subunit gamma | Often (30–79%) | In 1 condition |
| IRF1interferon regulatory factor 1 | Often (30–79%) | In 1 condition |
| KITKIT proto-oncogene, receptor tyrosine kinase | Often (30–79%) | In 2 conditions |
| LIG3DNA ligase 3 | Often (30–79%) | In 1 condition |
| LIPAlipase A, lysosomal acid type | Often (30–79%) | In 2 conditions |
| MC2Rmelanocortin 2 receptor | Often (30–79%) | In 1 condition |
| MEFVMEFV innate immunity regulator, pyrin | Often (30–79%) | In 3 conditions |
| MEN1menin 1 | Often (30–79%) | In 2 conditions |
| MPV17mitochondrial inner membrane protein MPV17 | Often (30–79%) | In 1 condition |
| MRAPmelanocortin 2 receptor accessory protein | Often (30–79%) | In 1 condition |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Often (30–79%) | In 1 condition |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Often (30–79%) | In 1 condition |
| MYO5Bmyosin VB | Often (30–79%) | In 1 condition |
| NGFnerve growth factor | Often (30–79%) | In 1 condition |
| NNTnicotinamide nucleotide transhydrogenase | Often (30–79%) | In 1 condition |
| NOD2nucleotide binding oligomerization domain containing 2 | Often (30–79%) | In 2 conditions |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Often (30–79%) | In 1 condition |
| RFX5regulatory factor X5 | Often (30–79%) | In 1 condition |
| RFXANKregulatory factor X associated ankyrin containing protein | Often (30–79%) | In 1 condition |
| RFXAPregulatory factor X associated protein | Often (30–79%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Often (30–79%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Often (30–79%) | In 2 conditions |
| RUNX1RUNX family transcription factor 1 | Often (30–79%) | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Often (30–79%) | In 1 condition |
| SERPING1serpin family G member 1 | Often (30–79%) | In 2 conditions |
| SLC1A3solute carrier family 1 member 3 | Often (30–79%) | In 1 condition |
| SLC25A13solute carrier family 25 member 13 | Often (30–79%) | In 2 conditions |
| SLC2A1solute carrier family 2 member 1 | Often (30–79%) | In 1 condition |
| SLC39A4solute carrier family 39 member 4 | Often (30–79%) | In 1 condition |
| SLC7A7solute carrier family 7 member 7 | Often (30–79%) | In 2 conditions |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Often (30–79%) | In 1 condition |
| SMAD4SMAD family member 4 | Often (30–79%) | In 1 condition |
| SRP19signal recognition particle 19 | Often (30–79%) | In 1 condition |
| SRSF2serine and arginine rich splicing factor 2 | Often (30–79%) | In 2 conditions |
| STARsteroidogenic acute regulatory protein | Often (30–79%) | In 1 condition |
| STAT1signal transducer and activator of transcription 1 | Often (30–79%) | In 2 conditions |
| STX3syntaxin 3 | Often (30–79%) | In 1 condition |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Often (30–79%) | In 1 condition |
| TCN2transcobalamin 2 | Often (30–79%) | In 1 condition |
| TET2tet methylcytosine dioxygenase 2 | Often (30–79%) | In 2 conditions |
| TTRtransthyretin | Often (30–79%) | In 2 conditions |
| TXNRD2thioredoxin reductase 2 | Often (30–79%) | In 1 condition |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Often (30–79%) | In 1 condition |
| WDR1WD repeat domain 1 | Often (30–79%) | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Sometimes (5–29%) | In 1 condition |
| ACADMacyl-CoA dehydrogenase medium chain | Sometimes (5–29%) | In 1 condition |
| ALADaminolevulinate dehydratase | Sometimes (5–29%) | In 1 condition |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Sometimes (5–29%) | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| AMNamnion associated transmembrane protein | Sometimes (5–29%) | In 1 condition |
| ANAPC1anaphase promoting complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| ASLargininosuccinate lyase | Sometimes (5–29%) | In 1 condition |
| ATP7AATPase copper transporting alpha | Sometimes (5–29%) | In 1 condition |
| B4GALT1beta-1,4-galactosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| CD247CD247 molecule | Sometimes (5–29%) | In 1 condition |
| CD3DCD3 delta subunit of T-cell receptor complex | Sometimes (5–29%) | In 1 condition |
| CD3ECD3 epsilon subunit of T-cell receptor complex | Sometimes (5–29%) | In 1 condition |
| CFTRCF transmembrane conductance regulator | Sometimes (5–29%) | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Sometimes (5–29%) | In 1 condition |
| DBHdopamine beta-hydroxylase | 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 |
| DNASE1L3deoxyribonuclease 1L3 | Sometimes (5–29%) | In 1 condition |
| DOCK11dedicator of cytokinesis 11 | Sometimes (5–29%) | In 1 condition |
| DOLKdolichol kinase | Sometimes (5–29%) | In 1 condition |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Sometimes (5–29%) | In 1 condition |
| ECE1endothelin converting enzyme 1 | Sometimes (5–29%) | In 1 condition |
| EDN3endothelin 3 | Sometimes (5–29%) | In 1 condition |
| EDNRBendothelin receptor type B | Sometimes (5–29%) | In 1 condition |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Sometimes (5–29%) | In 1 condition |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Sometimes (5–29%) | In 1 condition |
| FCGR2AFc gamma receptor IIa | Sometimes (5–29%) | In 1 condition |
| FOXN1forkhead box N1 | Sometimes (5–29%) | In 1 condition |
| GALTgalactose-1-phosphate uridylyltransferase | Sometimes (5–29%) | In 2 conditions |
| GDNFglial cell derived neurotrophic factor | Sometimes (5–29%) | In 1 condition |
| HBBhemoglobin subunit beta | Sometimes (5–29%) | In 2 conditions |
| HEXBhexosaminidase subunit beta | Sometimes (5–29%) | In 1 condition |
| HMBShydroxymethylbilane synthase | Sometimes (5–29%) | In 2 conditions |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Sometimes (5–29%) | In 2 conditions |
| HTRA2HtrA serine peptidase 2 | Sometimes (5–29%) | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Sometimes (5–29%) | In 1 condition |
| IGKCimmunoglobulin kappa constant | Sometimes (5–29%) | In 1 condition |
| KARS1lysyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Sometimes (5–29%) | In 1 condition |
| LRRK2leucine rich repeat kinase 2 | Sometimes (5–29%) | In 1 condition |
| MLYCDmalonyl-CoA decarboxylase | Sometimes (5–29%) | In 2 conditions |
| MMUTmethylmalonyl-CoA mutase | 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 |
| MYD88MYD88 innate immune signal transduction adaptor | Sometimes (5–29%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sometimes (5–29%) | In 1 condition |
| NAXDNAD(P)HX dehydratase | Sometimes (5–29%) | In 1 condition |
| NRTNneurturin | Sometimes (5–29%) | In 1 condition |
| PARK7Parkinsonism associated deglycase | Sometimes (5–29%) | In 1 condition |
| PINK1PTEN induced kinase 1 | Sometimes (5–29%) | In 1 condition |
| PMM2phosphomannomutase 2 | Sometimes (5–29%) | In 1 condition |
| PODXLpodocalyxin like | Sometimes (5–29%) | In 1 condition |
| PRKNparkin RBR E3 ubiquitin protein ligase | Sometimes (5–29%) | In 1 condition |
| RETret proto-oncogene | Sometimes (5–29%) | In 2 conditions |
| RNF168ring finger protein 168 | Sometimes (5–29%) | In 1 condition |
| SEMA3Csemaphorin 3C | Sometimes (5–29%) | In 1 condition |
| SEMA3Dsemaphorin 3D | Sometimes (5–29%) | In 1 condition |
| SLC22A5solute carrier family 22 member 5 | Sometimes (5–29%) | In 1 condition |
| SLC37A4solute carrier family 37 member 4 | Sometimes (5–29%) | In 1 condition |
| SMOsmoothened, frizzled class receptor | Sometimes (5–29%) | In 1 condition |
| SMPD1sphingomyelin phosphodiesterase 1 | Sometimes (5–29%) | In 1 condition |
| SNCAsynuclein alpha | Sometimes (5–29%) | In 1 condition |
| SP110SP110 nuclear body protein | Sometimes (5–29%) | In 1 condition |
| SREBF1sterol regulatory element binding transcription factor 1 | 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 |
| TGFB1transforming growth factor beta 1 | Sometimes (5–29%) | In 1 condition |
| TREHtrehalase | Sometimes (5–29%) | In 2 conditions |
| UCHL1ubiquitin C-terminal hydrolase L1 | Sometimes (5–29%) | In 1 condition |
| VPS13Cvacuolar protein sorting 13 homolog C | Sometimes (5–29%) | In 1 condition |
| ZBTB24zinc finger and BTB domain containing 24 | Sometimes (5–29%) | In 1 condition |
| ZFYVE19zinc finger FYVE-type containing 19 | Sometimes (5–29%) | In 1 condition |
| C4Acomplement C4A (Chido/Rodgers blood group) | Rarely (1–4%) | In 1 condition |
| CCR1C-C motif chemokine receptor 1 | Rarely (1–4%) | In 1 condition |
| CLCNKBchloride voltage-gated channel Kb | Rarely (1–4%) | In 1 condition |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Rarely (1–4%) | In 1 condition |
| FASFas cell surface death receptor | Rarely (1–4%) | In 1 condition |
| IFNGR1interferon gamma receptor 1 | Rarely (1–4%) | In 2 conditions |
| IL10interleukin 10 | Rarely (1–4%) | In 1 condition |
| IL12Ainterleukin 12A | Rarely (1–4%) | In 1 condition |
| IL12A-AS1IL12A antisense RNA 1 | Rarely (1–4%) | In 1 condition |
| IL23Rinterleukin 23 receptor | Rarely (1–4%) | In 1 condition |
| IRAK1interleukin 1 receptor associated kinase 1 | Rarely (1–4%) | In 1 condition |
| KLRC4killer cell lectin like receptor C4 | Rarely (1–4%) | In 1 condition |
| MAOAmonoamine oxidase A | Rarely (1–4%) | In 1 condition |
| MGME1mitochondrial genome maintenance exonuclease 1 | Rarely (1–4%) | In 1 condition |
| NAGSN-acetylglutamate synthase | Rarely (1–4%) | In 1 condition |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Rarely (1–4%) | In 1 condition |
| PHKBphosphorylase kinase regulatory subunit beta | Rarely (1–4%) | In 2 conditions |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Rarely (1–4%) | In 1 condition |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Rarely (1–4%) | In 1 condition |
| SLC12A3solute carrier family 12 member 3 | Rarely (1–4%) | In 1 condition |
| SPP1secreted phosphoprotein 1 | Rarely (1–4%) | In 1 condition |
| STAT4signal transducer and activator of transcription 4 | Rarely (1–4%) | In 2 conditions |
| TLR4toll like receptor 4 | Rarely (1–4%) | In 1 condition |
| UBAC2UBA domain containing 2 | Rarely (1–4%) | In 1 condition |
| ACSF3acyl-CoA synthetase family member 3 | Not recorded | In 1 condition |
| ACTG2actin gamma 2, smooth muscle | Not recorded | In 1 condition |
| AGAaspartylglucosaminidase | Not recorded | In 1 condition |
| AKR1D1aldo-keto reductase family 1 member D1 | Not recorded | In 1 condition |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Not recorded | In 1 condition |
| ARXaristaless related homeobox | Not recorded | In 1 condition |
| BTDbiotinidase | Not recorded | In 1 condition |
| BTKBruton tyrosine kinase | Not recorded | In 1 condition |
| CD19CD19 molecule | Not recorded | In 1 condition |
| CFHcomplement factor H | Not recorded | In 1 condition |
| CFHR1complement factor H related 1 | Not recorded | In 1 condition |
| CFHR3complement factor H related 3 | Not recorded | In 1 condition |
| CPOXcoproporphyrinogen oxidase | Not recorded | In 1 condition |
| CR2complement C3d receptor 2 | Not recorded | In 1 condition |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Not recorded | In 1 condition |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Not recorded | In 1 condition |
| DCLRE1CDNA cross-link repair 1C | Not recorded | In 1 condition |
| DESdesmin | Not recorded | In 1 condition |
| DNMT3BDNA methyltransferase 3 beta | Not recorded | In 1 condition |
| ELP1elongator acetyltransferase complex subunit 1 | Not recorded | In 1 condition |
| GLAgalactosidase alpha | Not recorded | In 1 condition |
| GNSglucosamine (N-acetyl)-6-sulfatase | Not recorded | In 1 condition |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Not recorded | In 1 condition |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Not recorded | In 1 condition |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Not recorded | In 1 condition |
| HS3ST6heparan sulfate-glucosamine 3-sulfotransferase 6 | Not recorded | In 1 condition |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Not recorded | In 1 condition |
| ICOSinducible T cell costimulator | Not recorded | In 2 conditions |
| IDSiduronate 2-sulfatase | Not recorded | In 1 condition |
| IFNGinterferon gamma | Not recorded | In 1 condition |
| IL6interleukin 6 | Not recorded | In 1 condition |
| IL7Rinterleukin 7 receptor | Not recorded | In 1 condition |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Not recorded | In 1 condition |
| KIF1Bkinesin family member 1B | Not recorded | In 1 condition |
| LCTlactase | Not recorded | In 1 condition |
| MCM6minichromosome maintenance complex component 6 | Not recorded | In 1 condition |
| NAGLUN-acetyl-alpha-glucosaminidase | Not recorded | In 1 condition |
| NBNnibrin | Not recorded | In 1 condition |
| NR3C2nuclear receptor subfamily 3 group C member 2 | Not recorded | In 1 condition |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Not recorded | In 1 condition |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Not recorded | In 1 condition |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Not recorded | In 1 condition |
| RAG1recombination activating 1 | Not recorded | In 2 conditions |
| RAG2recombination activating 2 | Not recorded | In 2 conditions |
| RFX6regulatory factor X6 | Not recorded | In 1 condition |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Not recorded | In 1 condition |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Not recorded | In 1 condition |
| SCNN1Asodium channel epithelial 1 subunit alpha | Not recorded | In 1 condition |
| SLC12A1solute carrier family 12 member 1 | Not recorded | In 1 condition |
| SUGCTsuccinyl-CoA:glutarate-CoA transferase | Not recorded | In 1 condition |
| TLK2tousled like kinase 2 | Not recorded | In 1 condition |
| TMPRSS15transmembrane serine protease 15 | Not recorded | In 1 condition |
| TNFRSF13BTNF receptor superfamily member 13B | Not recorded | In 1 condition |
| TNFRSF13CTNF receptor superfamily member 13C | Not recorded | In 1 condition |
| WASWASP actin nucleation promoting factor | 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.
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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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