Trait
Abdominal pain
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Summary
- Also called
- Abdominal discomfort, Gastro pain, Gastrointestinal pain, Pain in stomach, Stomach pain, Upset stomach
Reference genomeGRCh38hg38
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Get my Genome Test327 genes linked to Abdominal pain
Changes in these genes cause rare conditions in which Abdominal pain 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 |
|---|---|---|
| ABCB1ATP binding cassette subfamily B member 1 | Always | In 1 condition |
| APRTadenine phosphoribosyltransferase | Always | In 1 condition |
| CARD8caspase recruitment domain family member 8 | Always | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Always | In 1 condition |
| CEBPECCAAT enhancer binding protein epsilon | Always | In 1 condition |
| FDXRferredoxin reductase | Always | In 1 condition |
| G6PDglucose-6-phosphate dehydrogenase | Always | In 1 condition |
| GUK1guanylate kinase 1 | Always | In 1 condition |
| IRF4interferon regulatory factor 4 | Always | In 2 conditions |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Always | In 1 condition |
| NCF4neutrophil cytosolic factor 4 | Always | In 1 condition |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Always | In 1 condition |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Always | In 1 condition |
| PIK3CGphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | Always | In 1 condition |
| PLD4phospholipase D family member 4 | Always | In 1 condition |
| PPOXprotoporphyrinogen oxidase | Always | In 2 conditions |
| RAD21RAD21 cohesin complex component | Always | In 1 condition |
| RNU6ATACRNA, U6atac small nuclear | Always | In 1 condition |
| STK11serine/threonine kinase 11 | Always | In 2 conditions |
| TRU-TCA1-1tRNA-SeC (anticodon TCA) 1-1 | Always | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Very often (80–99%) | In 1 condition |
| ALDOBaldolase, fructose-bisphosphate B | Very often (80–99%) | In 2 conditions |
| ATMATM serine/threonine kinase | Very often (80–99%) | In 1 condition |
| ATP7AATPase copper transporting alpha | Very often (80–99%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Very often (80–99%) | In 1 condition |
| BMPR1Abone morphogenetic protein receptor type 1A | Very often (80–99%) | In 3 conditions |
| BRCA1BRCA1 DNA repair associated | Very often (80–99%) | In 3 conditions |
| BRCA2BRCA2 DNA repair associated | Very often (80–99%) | In 4 conditions |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Very often (80–99%) | In 1 condition |
| CASRcalcium sensing receptor | Very often (80–99%) | In 2 conditions |
| CD4CD4 molecule | Very often (80–99%) | In 1 condition |
| CDKN2Acyclin dependent kinase inhibitor 2A | Very often (80–99%) | In 2 conditions |
| CHEK2checkpoint kinase 2 | Very often (80–99%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Very often (80–99%) | In 1 condition |
| CPA1carboxypeptidase A1 | Very often (80–99%) | In 1 condition |
| CPOXcoproporphyrinogen oxidase | Very often (80–99%) | In 2 conditions |
| CTNNB1catenin beta 1 | Very often (80–99%) | In 3 conditions |
| CTRCchymotrypsin C | Very often (80–99%) | In 2 conditions |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Very often (80–99%) | In 1 condition |
| ECE1endothelin converting enzyme 1 | Very often (80–99%) | In 1 condition |
Show 287 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| EDN3endothelin 3 | Very often (80–99%) | In 2 conditions |
| EDNRBendothelin receptor type B | Very often (80–99%) | In 2 conditions |
| EIF4Heukaryotic translation initiation factor 4H | Very often (80–99%) | In 1 condition |
| ELNelastin | Very often (80–99%) | In 1 condition |
| 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 |
| EWSR1EWS RNA binding protein 1 | Very often (80–99%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Very often (80–99%) | In 1 condition |
| FSHRfollicle stimulating hormone receptor | Very often (80–99%) | In 2 conditions |
| GDNFglial cell derived neurotrophic factor | Very often (80–99%) | In 1 condition |
| GHSRgrowth hormone secretagogue receptor | Very often (80–99%) | In 1 condition |
| GLAgalactosidase alpha | Very often (80–99%) | In 2 conditions |
| GTF2Igeneral transcription factor IIi | Very often (80–99%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Very often (80–99%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Very often (80–99%) | In 1 condition |
| HMBShydroxymethylbilane synthase | Very often (80–99%) | In 2 conditions |
| JAK2Janus kinase 2 | Very often (80–99%) | In 2 conditions |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 2 conditions |
| LIG3DNA ligase 3 | Very often (80–99%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Very often (80–99%) | In 1 condition |
| MEFVMEFV innate immunity regulator, pyrin | Very often (80–99%) | In 4 conditions |
| METMET proto-oncogene, receptor tyrosine kinase | Very often (80–99%) | In 1 condition |
| METTL27methyltransferase like 27 | 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 |
| MVKmevalonate kinase | Very often (80–99%) | In 2 conditions |
| NCF1neutrophil cytosolic factor 1 | Very often (80–99%) | In 1 condition |
| NPATnuclear protein, coactivator of histone transcription | Very often (80–99%) | In 1 condition |
| NRTNneurturin | Very often (80–99%) | In 1 condition |
| PALB2partner and localizer of BRCA2 | Very often (80–99%) | In 1 condition |
| PALLDpalladin, cytoskeletal associated protein | Very often (80–99%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Very often (80–99%) | In 1 condition |
| 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 |
| POLGDNA polymerase gamma, catalytic subunit | Very often (80–99%) | In 3 conditions |
| PRSS1serine protease 1 | Very often (80–99%) | In 2 conditions |
| PRSS2serine protease 2 | Very often (80–99%) | In 2 conditions |
| RABL3RAB, member of RAS oncogene family like 3 | Very often (80–99%) | In 1 condition |
| RETret proto-oncogene | Very often (80–99%) | In 1 condition |
| RFC2replication factor C subunit 2 | Very often (80–99%) | In 1 condition |
| RPS20ribosomal protein S20 | Very often (80–99%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Very often (80–99%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Very often (80–99%) | In 2 conditions |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Very often (80–99%) | In 2 conditions |
| SDHCsuccinate dehydrogenase complex subunit C | Very often (80–99%) | In 2 conditions |
| 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 |
| SERPING1serpin family G member 1 | Very often (80–99%) | In 2 conditions |
| SIsucrase-isomaltase | Very often (80–99%) | In 2 conditions |
| SMAD4SMAD family 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 |
| STX1Asyntaxin 1A | Very often (80–99%) | In 1 condition |
| TBL2transducin beta like 2 | Very often (80–99%) | In 1 condition |
| TGFBR2transforming growth factor beta receptor 2 | Very often (80–99%) | In 1 condition |
| TMEM270transmembrane protein 270 | Very often (80–99%) | In 1 condition |
| TNFRSF1ATNF receptor superfamily member 1A | Very often (80–99%) | In 2 conditions |
| TP53tumor protein p53 | Very often (80–99%) | In 2 conditions |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Very often (80–99%) | In 1 condition |
| TYMPthymidine phosphorylase | Very often (80–99%) | In 2 conditions |
| VPS37DVPS37D subunit of ESCRT-I | Very often (80–99%) | In 1 condition |
| WT1WT1 transcription factor | Very often (80–99%) | In 3 conditions |
| ABCA1ATP binding cassette subfamily A member 1 | Often (30–79%) | In 1 condition |
| ALADaminolevulinate dehydratase | Often (30–79%) | In 1 condition |
| APCAPC regulator of Wnt signaling pathway | Often (30–79%) | In 2 conditions |
| ASXL1ASXL transcriptional regulator 1 | Often (30–79%) | In 2 conditions |
| BMP6bone morphogenetic protein 6 | Often (30–79%) | In 1 condition |
| C4Acomplement C4A (Chido/Rodgers blood group) | Often (30–79%) | In 1 condition |
| CALRcalreticulin | Often (30–79%) | In 1 condition |
| CBLCbl proto-oncogene | Often (30–79%) | In 1 condition |
| CCR1C-C motif chemokine receptor 1 | 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 1 condition |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Often (30–79%) | In 1 condition |
| CLCNKBchloride voltage-gated channel Kb | Often (30–79%) | In 1 condition |
| CLDN16claudin 16 | Often (30–79%) | In 1 condition |
| CLPBClpB family mitochondrial disaggregase | Often (30–79%) | In 1 condition |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Often (30–79%) | In 1 condition |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Often (30–79%) | In 1 condition |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Often (30–79%) | In 1 condition |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Often (30–79%) | In 1 condition |
| DNASE1L3deoxyribonuclease 1L3 | Often (30–79%) | In 1 condition |
| ELANEelastase, neutrophil expressed | Often (30–79%) | In 2 conditions |
| ELF4E74 like ETS transcription factor 4 | Often (30–79%) | In 1 condition |
| EPORerythropoietin receptor | Often (30–79%) | In 1 condition |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Often (30–79%) | In 1 condition |
| F5coagulation factor V | Often (30–79%) | In 1 condition |
| FASFas cell surface death receptor | Often (30–79%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Often (30–79%) | In 1 condition |
| GCGRglucagon receptor | Often (30–79%) | In 2 conditions |
| GFI1growth factor independent 1 transcriptional repressor | Often (30–79%) | In 1 condition |
| GNA11G protein subunit alpha 11 | Often (30–79%) | In 1 condition |
| GOSR2golgi SNAP receptor complex member 2 | Often (30–79%) | In 1 condition |
| GPC3glypican 3 | Often (30–79%) | In 1 condition |
| H19H19 imprinted maternally expressed transcript | Often (30–79%) | In 1 condition |
| HFEhomeostatic iron regulator | Often (30–79%) | In 2 conditions |
| HLA-Bmajor histocompatibility complex, class I, B | Often (30–79%) | In 4 conditions |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Often (30–79%) | In 1 condition |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Often (30–79%) | In 1 condition |
| IFNGR1interferon gamma receptor 1 | Often (30–79%) | In 1 condition |
| IL10interleukin 10 | Often (30–79%) | In 1 condition |
| IL12Ainterleukin 12A | Often (30–79%) | In 1 condition |
| IL12A-AS1IL12A antisense RNA 1 | Often (30–79%) | In 1 condition |
| IL23Rinterleukin 23 receptor | Often (30–79%) | In 1 condition |
| KLRC4killer cell lectin like receptor C4 | Often (30–79%) | In 1 condition |
| MED12mediator complex subunit 12 | Often (30–79%) | In 1 condition |
| MEN1menin 1 | Often (30–79%) | In 1 condition |
| MITFmelanocyte inducing transcription factor | Often (30–79%) | In 1 condition |
| NKX2-5NK2 homeobox 5 | Often (30–79%) | In 1 condition |
| NLRP3NLR family pyrin domain containing 3 | Often (30–79%) | In 2 conditions |
| NOD2nucleotide binding oligomerization domain containing 2 | Often (30–79%) | In 2 conditions |
| OTULINOTU deubiquitinase with linear linkage specificity | Often (30–79%) | In 1 condition |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Often (30–79%) | In 1 condition |
| POU6F2POU class 6 homeobox 2 | Often (30–79%) | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Often (30–79%) | In 2 conditions |
| PRTN3proteinase 3 | Often (30–79%) | In 1 condition |
| PTENphosphatase and tensin homolog | Often (30–79%) | In 1 condition |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Often (30–79%) | In 2 conditions |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Often (30–79%) | In 1 condition |
| RESTRE1 silencing transcription factor | Often (30–79%) | In 1 condition |
| RIPK1receptor interacting serine/threonine kinase 1 | Often (30–79%) | In 1 condition |
| RUNX1RUNX family transcription factor 1 | Often (30–79%) | In 1 condition |
| SAA1serum amyloid A1 | Often (30–79%) | In 1 condition |
| SCARB2scavenger receptor class B member 2 | Often (30–79%) | In 1 condition |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Often (30–79%) | In 1 condition |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Often (30–79%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Often (30–79%) | In 1 condition |
| SLC12A3solute carrier family 12 member 3 | Often (30–79%) | In 2 conditions |
| SRP19signal recognition particle 19 | Often (30–79%) | In 1 condition |
| SRSF2serine and arginine rich splicing factor 2 | Often (30–79%) | In 2 conditions |
| STAT4signal transducer and activator of transcription 4 | Often (30–79%) | In 2 conditions |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Often (30–79%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Often (30–79%) | In 1 condition |
| TET2tet methylcytosine dioxygenase 2 | Often (30–79%) | In 2 conditions |
| TLR4toll like receptor 4 | Often (30–79%) | In 1 condition |
| TRIM28tripartite motif containing 28 | Often (30–79%) | In 1 condition |
| TRIP13thyroid hormone receptor interactor 13 | Often (30–79%) | In 1 condition |
| TRPM4transient receptor potential cation channel subfamily M member 4 | Often (30–79%) | In 1 condition |
| TSC1TSC complex subunit 1 | Often (30–79%) | In 1 condition |
| TSC2TSC complex subunit 2 | Often (30–79%) | In 1 condition |
| UBAC2UBA domain containing 2 | Often (30–79%) | In 1 condition |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Often (30–79%) | In 1 condition |
| ZNRF3zinc and ring finger 3 | Often (30–79%) | In 1 condition |
| ABCC2ATP binding cassette subfamily C member 2 | Sometimes (5–29%) | In 1 condition |
| ACTN4actinin alpha 4 | Sometimes (5–29%) | In 1 condition |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Sometimes (5–29%) | In 1 condition |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Sometimes (5–29%) | In 1 condition |
| ANK1ankyrin 1 | Sometimes (5–29%) | In 1 condition |
| ANKFY1ankyrin repeat and FYVE domain containing 1 | Sometimes (5–29%) | In 1 condition |
| ANLNanillin, actin binding protein | Sometimes (5–29%) | In 1 condition |
| APOL1apolipoprotein L1 | Sometimes (5–29%) | In 1 condition |
| ARHGAP24Rho GTPase activating protein 24 | Sometimes (5–29%) | In 1 condition |
| ARHGDIARho GDP dissociation inhibitor alpha | Sometimes (5–29%) | In 1 condition |
| ATP7BATPase copper transporting beta | Sometimes (5–29%) | In 1 condition |
| AVILadvillin | Sometimes (5–29%) | In 1 condition |
| BCL10BCL10 immune signaling adaptor | Sometimes (5–29%) | In 1 condition |
| BCL11ABCL11 transcription factor A | Sometimes (5–29%) | In 1 condition |
| BCORBCL6 corepressor | Sometimes (5–29%) | In 1 condition |
| BIRC3baculoviral IAP repeat containing 3 | Sometimes (5–29%) | In 1 condition |
| BNC2basonuclin zinc finger protein 2 | Sometimes (5–29%) | In 1 condition |
| CCND1cyclin D1 | Sometimes (5–29%) | In 1 condition |
| CD2APCD2 associated protein | Sometimes (5–29%) | In 1 condition |
| CD46CD46 molecule | Sometimes (5–29%) | In 1 condition |
| CFHcomplement factor H | Sometimes (5–29%) | In 1 condition |
| CFIcomplement factor I | Sometimes (5–29%) | In 1 condition |
| COL4A3collagen type IV alpha 3 chain | Sometimes (5–29%) | In 1 condition |
| COQ8Bcoenzyme Q8B | Sometimes (5–29%) | In 1 condition |
| CORINcorin, serine peptidase | Sometimes (5–29%) | In 1 condition |
| CRB2crumbs cell polarity complex component 2 | Sometimes (5–29%) | In 1 condition |
| DAAM2dishevelled associated activator of morphogenesis 2 | Sometimes (5–29%) | In 1 condition |
| DDIT3DNA damage inducible transcript 3 | Sometimes (5–29%) | In 1 condition |
| DMPKDM1 protein kinase | Sometimes (5–29%) | In 1 condition |
| EMP2epithelial membrane protein 2 | Sometimes (5–29%) | In 1 condition |
| EPB42erythrocyte membrane protein band 4.2 | Sometimes (5–29%) | In 1 condition |
| FGF13fibroblast growth factor 13 | Sometimes (5–29%) | In 1 condition |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Sometimes (5–29%) | In 1 condition |
| FLT1fms related receptor tyrosine kinase 1 | Sometimes (5–29%) | In 1 condition |
| FOXP1forkhead box P1 | Sometimes (5–29%) | In 1 condition |
| FUSFUS RNA binding protein | Sometimes (5–29%) | In 1 condition |
| GAPVD1GTPase activating protein and VPS9 domains 1 | Sometimes (5–29%) | In 1 condition |
| GPR35G protein-coupled receptor 35 | Sometimes (5–29%) | In 1 condition |
| HBBhemoglobin subunit beta | Sometimes (5–29%) | In 3 conditions |
| HBG1hemoglobin subunit gamma 1 | Sometimes (5–29%) | In 1 condition |
| HBG2hemoglobin subunit gamma 2 | Sometimes (5–29%) | In 1 condition |
| HELLPARHELLP associated long non-coding RNA | Sometimes (5–29%) | In 1 condition |
| HIVEP2HIVEP zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sometimes (5–29%) | In 2 conditions |
| IGHimmunoglobulin heavy locus | Sometimes (5–29%) | In 1 condition |
| IKZF1IKAROS family zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| IL6interleukin 6 | Sometimes (5–29%) | In 2 conditions |
| INF2inverted formin 2 | Sometimes (5–29%) | In 1 condition |
| IRAK1interleukin 1 receptor associated kinase 1 | Sometimes (5–29%) | In 1 condition |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Sometimes (5–29%) | In 1 condition |
| KANK2KN motif and ankyrin repeat domains 2 | Sometimes (5–29%) | In 1 condition |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Sometimes (5–29%) | In 1 condition |
| KITKIT proto-oncogene, receptor tyrosine kinase | Sometimes (5–29%) | In 2 conditions |
| KLF1KLF transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Sometimes (5–29%) | In 1 condition |
| LAMA5laminin subunit alpha 5 | Sometimes (5–29%) | In 1 condition |
| LRP5LDL receptor related protein 5 | Sometimes (5–29%) | In 1 condition |
| MAGI2membrane associated guanylate kinase, WW and PDZ domain containing 2 | Sometimes (5–29%) | In 1 condition |
| MALT1MALT1 paracaspase | Sometimes (5–29%) | In 1 condition |
| MIFmacrophage migration inhibitory factor | Sometimes (5–29%) | In 1 condition |
| MMUTmethylmalonyl-CoA mutase | Sometimes (5–29%) | In 1 condition |
| MST1macrophage stimulating 1 | Sometimes (5–29%) | In 1 condition |
| MYCMYC proto-oncogene, bHLH transcription factor | Sometimes (5–29%) | In 1 condition |
| MYO1Emyosin IE | Sometimes (5–29%) | In 1 condition |
| NABP1nucleic acid binding protein 1 | Sometimes (5–29%) | In 1 condition |
| NPHS1NPHS1 adhesion molecule, nephrin | Sometimes (5–29%) | In 1 condition |
| NPHS2NPHS2 stomatin family member, podocin | Sometimes (5–29%) | In 1 condition |
| NPM1nucleophosmin 1 | Sometimes (5–29%) | In 1 condition |
| NUMA1nuclear mitotic apparatus protein 1 | Sometimes (5–29%) | In 1 condition |
| NUP107nucleoporin 107 | Sometimes (5–29%) | In 1 condition |
| NUP133nucleoporin 133 | Sometimes (5–29%) | In 1 condition |
| NUP160nucleoporin 160 | Sometimes (5–29%) | In 1 condition |
| NUP205nucleoporin 205 | Sometimes (5–29%) | In 1 condition |
| NUP37nucleoporin 37 | Sometimes (5–29%) | In 1 condition |
| NUP85nucleoporin 85 | Sometimes (5–29%) | In 1 condition |
| NUP93nucleoporin 93 | Sometimes (5–29%) | In 1 condition |
| OTCornithine transcarbamylase | Sometimes (5–29%) | In 1 condition |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Sometimes (5–29%) | In 1 condition |
| PAX2paired box 2 | Sometimes (5–29%) | In 1 condition |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Sometimes (5–29%) | In 1 condition |
| PLCE1phospholipase C epsilon 1 | Sometimes (5–29%) | In 1 condition |
| PMLPML nuclear body scaffold | Sometimes (5–29%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| PORCNporcupine O-acyltransferase | Sometimes (5–29%) | In 1 condition |
| PRKCSHPRKCSH beta subunit of glucosidase II | Sometimes (5–29%) | In 1 condition |
| PTPN3protein tyrosine phosphatase non-receptor type 3 | Sometimes (5–29%) | In 1 condition |
| PTPROprotein tyrosine phosphatase receptor type O | Sometimes (5–29%) | In 1 condition |
| RARAretinoic acid receptor alpha | Sometimes (5–29%) | In 1 condition |
| RNF168ring finger protein 168 | Sometimes (5–29%) | In 1 condition |
| ROS1ROS proto-oncogene 1, receptor tyrosine kinase | Sometimes (5–29%) | In 1 condition |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| SEC63SEC63 protein translocation regulator | Sometimes (5–29%) | In 1 condition |
| SEMA4Dsemaphorin 4D | Sometimes (5–29%) | In 1 condition |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Sometimes (5–29%) | In 2 conditions |
| SMPD1sphingomyelin phosphodiesterase 1 | Sometimes (5–29%) | In 1 condition |
| SPP1secreted phosphoprotein 1 | Sometimes (5–29%) | In 1 condition |
| SPTA1spectrin alpha, erythrocytic 1 | Sometimes (5–29%) | In 2 conditions |
| SPTBspectrin beta, erythrocytic | Sometimes (5–29%) | In 2 conditions |
| STAT3signal transducer and activator of transcription 3 | Sometimes (5–29%) | In 2 conditions |
| STAT5Bsignal transducer and activator of transcription 5B | Sometimes (5–29%) | In 1 condition |
| STOX1storkhead box 1 | Sometimes (5–29%) | In 1 condition |
| SYKspleen associated tyrosine kinase | Sometimes (5–29%) | In 1 condition |
| TBC1D8BTBC1 domain family member 8B | Sometimes (5–29%) | In 1 condition |
| TBK1TANK binding kinase 1 | Sometimes (5–29%) | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Sometimes (5–29%) | In 1 condition |
| TCF4transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| TFR2transferrin receptor 2 | Sometimes (5–29%) | In 1 condition |
| TREHtrehalase | Sometimes (5–29%) | In 2 conditions |
| TRPC6transient receptor potential cation channel subfamily C member 6 | Sometimes (5–29%) | In 1 condition |
| UNC45Aunc-45 myosin chaperone A | Sometimes (5–29%) | In 1 condition |
| VHLvon Hippel-Lindau tumor suppressor | Sometimes (5–29%) | In 1 condition |
| ZBTB16zinc finger and BTB domain containing 16 | Sometimes (5–29%) | In 1 condition |
| ABCB11ATP binding cassette subfamily B member 11 | Rarely (1–4%) | In 1 condition |
| ABCB4ATP binding cassette subfamily B member 4 | Rarely (1–4%) | In 1 condition |
| ATP8B1ATPase phospholipid transporting 8B1 | Rarely (1–4%) | In 1 condition |
| EPB41erythrocyte membrane protein band 4.1 | Rarely (1–4%) | In 1 condition |
| GYPCglycophorin C (Gerbich blood group) | Rarely (1–4%) | In 1 condition |
| NR1H4nuclear receptor subfamily 1 group H member 4 | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| ABCG8ATP binding cassette subfamily G member 8 | Not recorded | In 1 condition |
| ACTG2actin gamma 2, smooth muscle | Not recorded | In 1 condition |
| ADA2adenosine deaminase 2 | Not recorded | In 1 condition |
| BMP2bone morphogenetic protein 2 | Not recorded | In 1 condition |
| CELcarboxyl ester lipase | Not recorded | In 1 condition |
| CFTRCF transmembrane conductance regulator | Not recorded | In 1 condition |
| GUCY2Cguanylate cyclase 2C | 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 |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Not recorded | In 1 condition |
| HS3ST6heparan sulfate-glucosamine 3-sulfotransferase 6 | Not recorded | In 1 condition |
| KIF1Bkinesin family member 1B | Not recorded | In 1 condition |
| MCM6minichromosome maintenance complex component 6 | Not recorded | In 1 condition |
| MLYCDmalonyl-CoA decarboxylase | Not recorded | In 1 condition |
| NLRP12NLR family pyrin domain containing 12 | Not recorded | In 1 condition |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Not recorded | In 1 condition |
| SLC25A26solute carrier family 25 member 26 | Not recorded | In 1 condition |
| SPINK1serine peptidase inhibitor Kazal type 1 | Not recorded | In 2 conditions |
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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