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Kenmerk
Diarrhea
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Samenvatting
- Ook bekend als
- Watery stool, Diarrhoea
- Lichaamssysteem
- Abnormality of the digestive system
DiarrheaHP:0002014
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InloggenVraagAan de slagvanaf $ 449
Read the genes linked to Diarrhea, and the rest of your genome, with one test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen316 genen gekoppeld aan Diarrhea
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Diarrhea voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ABCB11ATP binding cassette subfamily B member 11 | Altijd | In 2 aandoeningen |
| ABCB4ATP binding cassette subfamily B member 4 | Altijd | In 1 aandoening |
| ADAadenosine deaminase | Altijd | In 2 aandoeningen |
| AK2adenylate kinase 2 | Altijd | In 2 aandoeningen |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Altijd | In 2 aandoeningen |
| ANO1anoctamin 1 | Altijd | In 1 aandoening |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Altijd | In 1 aandoening |
| APOA1apolipoprotein A1 | Altijd | In 1 aandoening |
| ATP8B1ATPase phospholipid transporting 8B1 | Altijd | In 2 aandoeningen |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Altijd | In 1 aandoening |
| CD79ACD79a molecule | Altijd | In 2 aandoeningen |
| CD79BCD79b molecule | Altijd | In 2 aandoeningen |
| CPT1Acarnitine palmitoyltransferase 1A | Altijd | In 1 aandoening |
| DGAT1diacylglycerol O-acyltransferase 1 | Altijd | In 1 aandoening |
| DNM1Ldynamin 1L | Altijd | In 1 aandoening |
| DOT1LDOT1 like histone lysine methyltransferase | Altijd | In 1 aandoening |
| FEM1Bfem-1 homolog B | Altijd | In 1 aandoening |
| GRWD1glutamate rich WD repeat containing 1 | Altijd | In 1 aandoening |
| HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 | Altijd | In 1 aandoening |
| IL2RBinterleukin 2 receptor subunit beta | Altijd | In 1 aandoening |
| IRF4interferon regulatory factor 4 | Altijd | In 2 aandoeningen |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altijd | In 1 aandoening |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altijd | In 1 aandoening |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| LCKLCK proto-oncogene, Src family tyrosine kinase | Altijd | In 1 aandoening |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Altijd | In 1 aandoening |
| MCM10minichromosome maintenance 10 replication initiation factor | Altijd | In 1 aandoening |
| MPImannose phosphate isomerase | Altijd | In 2 aandoeningen |
| MYO1Amyosin IA | Altijd | In 1 aandoening |
| NCF4neutrophil cytosolic factor 4 | Altijd | In 1 aandoening |
| OTULINOTU deubiquitinase with linear linkage specificity | Altijd | In 1 aandoening |
| PERCC1proline and glutamate rich with coiled coil 1 | Altijd | In 1 aandoening |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Altijd | In 1 aandoening |
| PIK3CGphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | Altijd | In 1 aandoening |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Altijd | In 1 aandoening |
| RIPK1receptor interacting serine/threonine kinase 1 | Altijd | In 1 aandoening |
| RNU6ATACRNA, U6atac small nuclear | Altijd | In 1 aandoening |
| SAR1Bsecretion associated Ras related GTPase 1B | Altijd | In 2 aandoeningen |
| SGSM3small G protein signaling modulator 3 | Altijd | In 1 aandoening |
| SIsucrase-isomaltase | Altijd | In 2 aandoeningen |
Toon nog 276 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| SKIC2SKI2 subunit of superkiller complex | Altijd | In 1 aandoening |
| SLC46A1solute carrier family 46 member 1 | Altijd | In 2 aandoeningen |
| TRACT cell receptor alpha constant | Altijd | In 1 aandoening |
| WNT2BWnt family member 2B | Altijd | In 1 aandoening |
| BLNKB cell linker | Heel vaak (80–99%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Heel vaak (80–99%) | In 2 aandoeningen |
| CD4CD4 molecule | Heel vaak (80–99%) | In 1 aandoening |
| EFL1elongation factor like GTPase 1 | Heel vaak (80–99%) | In 1 aandoening |
| HADHhydroxyacyl-CoA dehydrogenase | Heel vaak (80–99%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Heel vaak (80–99%) | In 3 aandoeningen |
| IGHMimmunoglobulin heavy constant mu | Heel vaak (80–99%) | In 1 aandoening |
| IGLL1immunoglobulin lambda like polypeptide 1 | Heel vaak (80–99%) | In 1 aandoening |
| IKZF1IKAROS family zinc finger 1 | Heel vaak (80–99%) | In 1 aandoening |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Heel vaak (80–99%) | In 1 aandoening |
| MVKmevalonate kinase | Heel vaak (80–99%) | In 3 aandoeningen |
| NEUROG3neurogenin 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Heel vaak (80–99%) | In 3 aandoeningen |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| POLGDNA polymerase gamma, catalytic subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| PTENphosphatase and tensin homolog | Heel vaak (80–99%) | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Heel vaak (80–99%) | In 3 aandoeningen |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Heel vaak (80–99%) | In 1 aandoening |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Heel vaak (80–99%) | In 1 aandoening |
| SDHCsuccinate dehydrogenase complex subunit C | Heel vaak (80–99%) | In 1 aandoening |
| SGSHN-sulfoglucosamine sulfohydrolase | Heel vaak (80–99%) | In 1 aandoening |
| SLC19A2solute carrier family 19 member 2 | Heel vaak (80–99%) | In 1 aandoening |
| SLC5A1solute carrier family 5 member 1 | Heel vaak (80–99%) | In 1 aandoening |
| SPI1Spi-1 proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| SYKspleen associated tyrosine kinase | Heel vaak (80–99%) | In 1 aandoening |
| TCF3transcription factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| TNFRSF1ATNF receptor superfamily member 1A | Heel vaak (80–99%) | In 1 aandoening |
| TSHRthyroid stimulating hormone receptor | Heel vaak (80–99%) | In 2 aandoeningen |
| TYMPthymidine phosphorylase | Heel vaak (80–99%) | In 2 aandoeningen |
| ACAT1acetyl-CoA acetyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| AIREautoimmune regulator | Vaak (30–79%) | In 1 aandoening |
| ALDOBaldolase, fructose-bisphosphate B | Vaak (30–79%) | In 1 aandoening |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Vaak (30–79%) | In 1 aandoening |
| ANTXR2ANTXR cell adhesion molecule 2 | Vaak (30–79%) | In 1 aandoening |
| APCAPC regulator of Wnt signaling pathway | Vaak (30–79%) | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | Vaak (30–79%) | In 2 aandoeningen |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Vaak (30–79%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Vaak (30–79%) | In 1 aandoening |
| AVParginine vasopressin | Vaak (30–79%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Vaak (30–79%) | In 1 aandoening |
| CAV1caveolin 1 | Vaak (30–79%) | In 1 aandoening |
| CBLCbl proto-oncogene | Vaak (30–79%) | In 1 aandoening |
| CD40LGCD40 ligand | Vaak (30–79%) | In 1 aandoening |
| CD55CD55 molecule (Cromer blood group) | Vaak (30–79%) | In 1 aandoening |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Vaak (30–79%) | In 2 aandoeningen |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Vaak (30–79%) | In 1 aandoening |
| CIITAclass II major histocompatibility complex transactivator | Vaak (30–79%) | In 1 aandoening |
| CLPBClpB family mitochondrial disaggregase | Vaak (30–79%) | In 1 aandoening |
| COG7component of oligomeric golgi complex 7 | Vaak (30–79%) | In 1 aandoening |
| CPT2carnitine palmitoyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Vaak (30–79%) | In 2 aandoeningen |
| DDCdopa decarboxylase | Vaak (30–79%) | In 2 aandoeningen |
| ELANEelastase, neutrophil expressed | Vaak (30–79%) | In 1 aandoening |
| ELF4E74 like ETS transcription factor 4 | Vaak (30–79%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Vaak (30–79%) | In 1 aandoening |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Vaak (30–79%) | In 1 aandoening |
| ETHE1ETHE1 persulfide dioxygenase | Vaak (30–79%) | In 1 aandoening |
| FBP1fructose-bisphosphatase 1 | Vaak (30–79%) | In 1 aandoening |
| FOCADfocadhesin | Vaak (30–79%) | In 1 aandoening |
| GFI1growth factor independent 1 transcriptional repressor | Vaak (30–79%) | In 1 aandoening |
| GINS1GINS complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| HNF4Ahepatocyte nuclear factor 4 alpha | Vaak (30–79%) | In 1 aandoening |
| HPGD15-hydroxyprostaglandin dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| IL2RGinterleukin 2 receptor subunit gamma | Vaak (30–79%) | In 1 aandoening |
| IRF1interferon regulatory factor 1 | Vaak (30–79%) | In 1 aandoening |
| KITKIT proto-oncogene, receptor tyrosine kinase | Vaak (30–79%) | In 2 aandoeningen |
| LIG3DNA ligase 3 | Vaak (30–79%) | In 1 aandoening |
| LIPAlipase A, lysosomal acid type | Vaak (30–79%) | In 2 aandoeningen |
| MC2Rmelanocortin 2 receptor | Vaak (30–79%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Vaak (30–79%) | In 3 aandoeningen |
| MEN1menin 1 | Vaak (30–79%) | In 2 aandoeningen |
| MPV17mitochondrial inner membrane protein MPV17 | Vaak (30–79%) | In 1 aandoening |
| MRAPmelanocortin 2 receptor accessory protein | Vaak (30–79%) | In 1 aandoening |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Vaak (30–79%) | In 1 aandoening |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Vaak (30–79%) | In 1 aandoening |
| MYO5Bmyosin VB | Vaak (30–79%) | In 1 aandoening |
| NGFnerve growth factor | Vaak (30–79%) | In 1 aandoening |
| NNTnicotinamide nucleotide transhydrogenase | Vaak (30–79%) | In 1 aandoening |
| NOD2nucleotide binding oligomerization domain containing 2 | Vaak (30–79%) | In 2 aandoeningen |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Vaak (30–79%) | In 1 aandoening |
| RFX5regulatory factor X5 | Vaak (30–79%) | In 1 aandoening |
| RFXANKregulatory factor X associated ankyrin containing protein | Vaak (30–79%) | In 1 aandoening |
| RFXAPregulatory factor X associated protein | Vaak (30–79%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Vaak (30–79%) | In 2 aandoeningen |
| RUNX1RUNX family transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Vaak (30–79%) | In 1 aandoening |
| SERPING1serpin family G member 1 | Vaak (30–79%) | In 2 aandoeningen |
| SLC1A3solute carrier family 1 member 3 | Vaak (30–79%) | In 1 aandoening |
| SLC25A13solute carrier family 25 member 13 | Vaak (30–79%) | In 2 aandoeningen |
| SLC2A1solute carrier family 2 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC39A4solute carrier family 39 member 4 | Vaak (30–79%) | In 1 aandoening |
| SLC7A7solute carrier family 7 member 7 | Vaak (30–79%) | In 2 aandoeningen |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Vaak (30–79%) | In 1 aandoening |
| SMAD4SMAD family member 4 | Vaak (30–79%) | In 1 aandoening |
| SRP19signal recognition particle 19 | Vaak (30–79%) | In 1 aandoening |
| SRSF2serine and arginine rich splicing factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| STARsteroidogenic acute regulatory protein | Vaak (30–79%) | In 1 aandoening |
| STAT1signal transducer and activator of transcription 1 | Vaak (30–79%) | In 2 aandoeningen |
| STX3syntaxin 3 | Vaak (30–79%) | In 1 aandoening |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Vaak (30–79%) | In 1 aandoening |
| TCN2transcobalamin 2 | Vaak (30–79%) | In 1 aandoening |
| TET2tet methylcytosine dioxygenase 2 | Vaak (30–79%) | In 2 aandoeningen |
| TTRtransthyretin | Vaak (30–79%) | In 2 aandoeningen |
| TXNRD2thioredoxin reductase 2 | Vaak (30–79%) | In 1 aandoening |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Vaak (30–79%) | In 1 aandoening |
| WDR1WD repeat domain 1 | Vaak (30–79%) | In 1 aandoening |
| ABCD1ATP binding cassette subfamily D member 1 | Soms (5–29%) | In 1 aandoening |
| ACADMacyl-CoA dehydrogenase medium chain | Soms (5–29%) | In 1 aandoening |
| ALADaminolevulinate dehydratase | Soms (5–29%) | In 1 aandoening |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Soms (5–29%) | In 1 aandoening |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| AMNamnion associated transmembrane protein | Soms (5–29%) | In 1 aandoening |
| ANAPC1anaphase promoting complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| ASLargininosuccinate lyase | Soms (5–29%) | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Soms (5–29%) | In 1 aandoening |
| B4GALT1beta-1,4-galactosyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| CD247CD247 molecule | Soms (5–29%) | In 1 aandoening |
| CD3DCD3 delta subunit of T-cell receptor complex | Soms (5–29%) | In 1 aandoening |
| CD3ECD3 epsilon subunit of T-cell receptor complex | Soms (5–29%) | In 1 aandoening |
| CFTRCF transmembrane conductance regulator | Soms (5–29%) | In 1 aandoening |
| CHD8chromodomain helicase DNA binding protein 8 | Soms (5–29%) | In 1 aandoening |
| DBHdopamine beta-hydroxylase | Soms (5–29%) | In 1 aandoening |
| DMPKDM1 protein kinase | Soms (5–29%) | In 1 aandoening |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Soms (5–29%) | In 1 aandoening |
| DNASE1L3deoxyribonuclease 1L3 | Soms (5–29%) | In 1 aandoening |
| DOCK11dedicator of cytokinesis 11 | Soms (5–29%) | In 1 aandoening |
| DOLKdolichol kinase | Soms (5–29%) | In 1 aandoening |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Soms (5–29%) | In 1 aandoening |
| ECE1endothelin converting enzyme 1 | Soms (5–29%) | In 1 aandoening |
| EDN3endothelin 3 | Soms (5–29%) | In 1 aandoening |
| EDNRBendothelin receptor type B | Soms (5–29%) | In 1 aandoening |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Soms (5–29%) | In 1 aandoening |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Soms (5–29%) | In 1 aandoening |
| FCGR2AFc gamma receptor IIa | Soms (5–29%) | In 1 aandoening |
| FOXN1forkhead box N1 | Soms (5–29%) | In 1 aandoening |
| GALTgalactose-1-phosphate uridylyltransferase | Soms (5–29%) | In 2 aandoeningen |
| GDNFglial cell derived neurotrophic factor | Soms (5–29%) | In 1 aandoening |
| HBBhemoglobin subunit beta | Soms (5–29%) | In 2 aandoeningen |
| HEXBhexosaminidase subunit beta | Soms (5–29%) | In 1 aandoening |
| HMBShydroxymethylbilane synthase | Soms (5–29%) | In 2 aandoeningen |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Soms (5–29%) | In 2 aandoeningen |
| HTRA2HtrA serine peptidase 2 | Soms (5–29%) | In 1 aandoening |
| IFIH1interferon induced with helicase C domain 1 | Soms (5–29%) | In 1 aandoening |
| IGKCimmunoglobulin kappa constant | Soms (5–29%) | In 1 aandoening |
| KARS1lysyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Soms (5–29%) | In 1 aandoening |
| LRRK2leucine rich repeat kinase 2 | Soms (5–29%) | In 1 aandoening |
| MLYCDmalonyl-CoA decarboxylase | Soms (5–29%) | In 2 aandoeningen |
| MMUTmethylmalonyl-CoA mutase | Soms (5–29%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Soms (5–29%) | In 1 aandoening |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Soms (5–29%) | In 1 aandoening |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Soms (5–29%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Soms (5–29%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Soms (5–29%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Soms (5–29%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Soms (5–29%) | In 1 aandoening |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Soms (5–29%) | In 1 aandoening |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Soms (5–29%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Soms (5–29%) | In 1 aandoening |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Soms (5–29%) | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Soms (5–29%) | In 1 aandoening |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Soms (5–29%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Soms (5–29%) | In 1 aandoening |
| MYD88MYD88 innate immune signal transduction adaptor | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NAXDNAD(P)HX dehydratase | Soms (5–29%) | In 1 aandoening |
| NRTNneurturin | Soms (5–29%) | In 1 aandoening |
| PARK7Parkinsonism associated deglycase | Soms (5–29%) | In 1 aandoening |
| PINK1PTEN induced kinase 1 | Soms (5–29%) | In 1 aandoening |
| PMM2phosphomannomutase 2 | Soms (5–29%) | In 1 aandoening |
| PODXLpodocalyxin like | Soms (5–29%) | In 1 aandoening |
| PRKNparkin RBR E3 ubiquitin protein ligase | Soms (5–29%) | In 1 aandoening |
| RETret proto-oncogene | Soms (5–29%) | In 2 aandoeningen |
| RNF168ring finger protein 168 | Soms (5–29%) | In 1 aandoening |
| SEMA3Csemaphorin 3C | Soms (5–29%) | In 1 aandoening |
| SEMA3Dsemaphorin 3D | Soms (5–29%) | In 1 aandoening |
| SLC22A5solute carrier family 22 member 5 | Soms (5–29%) | In 1 aandoening |
| SLC37A4solute carrier family 37 member 4 | Soms (5–29%) | In 1 aandoening |
| SMOsmoothened, frizzled class receptor | Soms (5–29%) | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Soms (5–29%) | In 1 aandoening |
| SNCAsynuclein alpha | Soms (5–29%) | In 1 aandoening |
| SP110SP110 nuclear body protein | Soms (5–29%) | In 1 aandoening |
| SREBF1sterol regulatory element binding transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| STAT3signal transducer and activator of transcription 3 | Soms (5–29%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Soms (5–29%) | In 1 aandoening |
| TGFB1transforming growth factor beta 1 | Soms (5–29%) | In 1 aandoening |
| TREHtrehalase | Soms (5–29%) | In 2 aandoeningen |
| UCHL1ubiquitin C-terminal hydrolase L1 | Soms (5–29%) | In 1 aandoening |
| VPS13Cvacuolar protein sorting 13 homolog C | Soms (5–29%) | In 1 aandoening |
| ZBTB24zinc finger and BTB domain containing 24 | Soms (5–29%) | In 1 aandoening |
| ZFYVE19zinc finger FYVE-type containing 19 | Soms (5–29%) | In 1 aandoening |
| C4Acomplement C4A (Chido/Rodgers blood group) | Zelden (1–4%) | In 1 aandoening |
| CCR1C-C motif chemokine receptor 1 | Zelden (1–4%) | In 1 aandoening |
| CLCNKBchloride voltage-gated channel Kb | Zelden (1–4%) | In 1 aandoening |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Zelden (1–4%) | In 1 aandoening |
| FASFas cell surface death receptor | Zelden (1–4%) | In 1 aandoening |
| IFNGR1interferon gamma receptor 1 | Zelden (1–4%) | In 2 aandoeningen |
| IL10interleukin 10 | Zelden (1–4%) | In 1 aandoening |
| IL12Ainterleukin 12A | Zelden (1–4%) | In 1 aandoening |
| IL12A-AS1IL12A antisense RNA 1 | Zelden (1–4%) | In 1 aandoening |
| IL23Rinterleukin 23 receptor | Zelden (1–4%) | In 1 aandoening |
| IRAK1interleukin 1 receptor associated kinase 1 | Zelden (1–4%) | In 1 aandoening |
| KLRC4killer cell lectin like receptor C4 | Zelden (1–4%) | In 1 aandoening |
| MAOAmonoamine oxidase A | Zelden (1–4%) | In 1 aandoening |
| MGME1mitochondrial genome maintenance exonuclease 1 | Zelden (1–4%) | In 1 aandoening |
| NAGSN-acetylglutamate synthase | Zelden (1–4%) | In 1 aandoening |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Zelden (1–4%) | In 1 aandoening |
| PHKBphosphorylase kinase regulatory subunit beta | Zelden (1–4%) | In 2 aandoeningen |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Zelden (1–4%) | In 1 aandoening |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Zelden (1–4%) | In 1 aandoening |
| SLC12A3solute carrier family 12 member 3 | Zelden (1–4%) | In 1 aandoening |
| SPP1secreted phosphoprotein 1 | Zelden (1–4%) | In 1 aandoening |
| STAT4signal transducer and activator of transcription 4 | Zelden (1–4%) | In 2 aandoeningen |
| TLR4toll like receptor 4 | Zelden (1–4%) | In 1 aandoening |
| UBAC2UBA domain containing 2 | Zelden (1–4%) | In 1 aandoening |
| ACSF3acyl-CoA synthetase family member 3 | Niet vastgelegd | In 1 aandoening |
| ACTG2actin gamma 2, smooth muscle | Niet vastgelegd | In 1 aandoening |
| AGAaspartylglucosaminidase | Niet vastgelegd | In 1 aandoening |
| AKR1D1aldo-keto reductase family 1 member D1 | Niet vastgelegd | In 1 aandoening |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Niet vastgelegd | In 1 aandoening |
| ARXaristaless related homeobox | Niet vastgelegd | In 1 aandoening |
| BTDbiotinidase | Niet vastgelegd | In 1 aandoening |
| BTKBruton tyrosine kinase | Niet vastgelegd | In 1 aandoening |
| CD19CD19 molecule | Niet vastgelegd | In 1 aandoening |
| CFHcomplement factor H | Niet vastgelegd | In 1 aandoening |
| CFHR1complement factor H related 1 | Niet vastgelegd | In 1 aandoening |
| CFHR3complement factor H related 3 | Niet vastgelegd | In 1 aandoening |
| CPOXcoproporphyrinogen oxidase | Niet vastgelegd | In 1 aandoening |
| CR2complement C3d receptor 2 | Niet vastgelegd | In 1 aandoening |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Niet vastgelegd | In 1 aandoening |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Niet vastgelegd | In 1 aandoening |
| DCLRE1CDNA cross-link repair 1C | Niet vastgelegd | In 1 aandoening |
| DESdesmin | Niet vastgelegd | In 1 aandoening |
| DNMT3BDNA methyltransferase 3 beta | Niet vastgelegd | In 1 aandoening |
| ELP1elongator acetyltransferase complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| GLAgalactosidase alpha | Niet vastgelegd | In 1 aandoening |
| GNSglucosamine (N-acetyl)-6-sulfatase | Niet vastgelegd | In 1 aandoening |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Niet vastgelegd | In 1 aandoening |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Niet vastgelegd | In 1 aandoening |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Niet vastgelegd | In 1 aandoening |
| HS3ST6heparan sulfate-glucosamine 3-sulfotransferase 6 | Niet vastgelegd | In 1 aandoening |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Niet vastgelegd | In 1 aandoening |
| ICOSinducible T cell costimulator | Niet vastgelegd | In 2 aandoeningen |
| IDSiduronate 2-sulfatase | Niet vastgelegd | In 1 aandoening |
| IFNGinterferon gamma | Niet vastgelegd | In 1 aandoening |
| IL6interleukin 6 | Niet vastgelegd | In 1 aandoening |
| IL7Rinterleukin 7 receptor | Niet vastgelegd | In 1 aandoening |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Niet vastgelegd | In 1 aandoening |
| KIF1Bkinesin family member 1B | Niet vastgelegd | In 1 aandoening |
| LCTlactase | Niet vastgelegd | In 1 aandoening |
| MCM6minichromosome maintenance complex component 6 | Niet vastgelegd | In 1 aandoening |
| NAGLUN-acetyl-alpha-glucosaminidase | Niet vastgelegd | In 1 aandoening |
| NBNnibrin | Niet vastgelegd | In 1 aandoening |
| NR3C2nuclear receptor subfamily 3 group C member 2 | Niet vastgelegd | In 1 aandoening |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Niet vastgelegd | In 1 aandoening |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Niet vastgelegd | In 1 aandoening |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Niet vastgelegd | In 1 aandoening |
| RAG1recombination activating 1 | Niet vastgelegd | In 2 aandoeningen |
| RAG2recombination activating 2 | Niet vastgelegd | In 2 aandoeningen |
| RFX6regulatory factor X6 | Niet vastgelegd | In 1 aandoening |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Niet vastgelegd | In 1 aandoening |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Niet vastgelegd | In 1 aandoening |
| SCNN1Asodium channel epithelial 1 subunit alpha | Niet vastgelegd | In 1 aandoening |
| SLC12A1solute carrier family 12 member 1 | Niet vastgelegd | In 1 aandoening |
| SUGCTsuccinyl-CoA:glutarate-CoA transferase | Niet vastgelegd | In 1 aandoening |
| TLK2tousled like kinase 2 | Niet vastgelegd | In 1 aandoening |
| TMPRSS15transmembrane serine protease 15 | Niet vastgelegd | In 1 aandoening |
| TNFRSF13BTNF receptor superfamily member 13B | Niet vastgelegd | In 1 aandoening |
| TNFRSF13CTNF receptor superfamily member 13C | Niet vastgelegd | In 1 aandoening |
| WASWASP actin nucleation promoting factor | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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