Kenmerk
Constipation
Infrequent or difficult evacuation of feces.
Samenvatting
- Ook bekend als
- Costiveness, Dyschezia
- Lichaamssysteem
- Abnormality of the digestive system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Constipation 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 |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Altijd | In 1 aandoening |
| ATP6V1B1ATPase H+ transporting V1 subunit B1 | Altijd | In 1 aandoening |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altijd | In 1 aandoening |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Altijd | In 1 aandoening |
| DNM1dynamin 1 | Altijd | In 1 aandoening |
| EDAectodysplasin A | Altijd | In 1 aandoening |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altijd | In 1 aandoening |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 1 aandoening |
| GTF3C3general transcription factor IIIC subunit 3 | Altijd | In 1 aandoening |
| HOXA13homeobox A13 | Altijd | In 1 aandoening |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altijd | In 1 aandoening |
| JPH1junctophilin 1 | Altijd | In 1 aandoening |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altijd | In 1 aandoening |
| KDM1Alysine demethylase 1A | Altijd | In 1 aandoening |
| KDM2Blysine demethylase 2B | Altijd | In 1 aandoening |
| KMT2Blysine methyltransferase 2B | Altijd | In 1 aandoening |
| MBD5methyl-CpG binding domain protein 5 | Altijd | In 2 aandoeningen |
| MPV17mitochondrial inner membrane protein MPV17 | Altijd | In 1 aandoening |
| MSL2MSL complex subunit 2 | Altijd | In 1 aandoening |
| RAB32RAB32, member RAS oncogene family | Altijd | In 1 aandoening |
| RAB3ARAB3A, member RAS oncogene family | Altijd | In 1 aandoening |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Altijd | In 1 aandoening |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altijd | In 1 aandoening |
| TAF4TATA-box binding protein associated factor 4 | Altijd | In 1 aandoening |
| VPS51VPS51 subunit of GARP complex | Altijd | In 1 aandoening |
| ZMYM3zinc finger MYM-type containing 3 | Altijd | In 1 aandoening |
| ABCD1ATP binding cassette subfamily D member 1 | Heel vaak (80–99%) | In 1 aandoening |
| ATMATM serine/threonine kinase | Heel vaak (80–99%) | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Heel vaak (80–99%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Heel vaak (80–99%) | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Heel vaak (80–99%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Heel vaak (80–99%) | In 1 aandoening |
| CHEK2checkpoint kinase 2 | Heel vaak (80–99%) | In 1 aandoening |
| CHST14carbohydrate sulfotransferase 14 | Heel vaak (80–99%) | In 2 aandoeningen |
| CTNScystinosin, lysosomal cystine transporter | Heel vaak (80–99%) | In 1 aandoening |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| DEAF1DEAF1 transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| ECE1endothelin converting enzyme 1 | Heel vaak (80–99%) | In 1 aandoening |
| EDN3endothelin 3 | Heel vaak (80–99%) | In 2 aandoeningen |
Toon nog 375 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| EDNRBendothelin receptor type B | Heel vaak (80–99%) | In 2 aandoeningen |
| EPCAMepithelial cell adhesion molecule | Heel vaak (80–99%) | In 1 aandoening |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Heel vaak (80–99%) | In 1 aandoening |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Heel vaak (80–99%) | In 1 aandoening |
| FOXE1forkhead box E1 | Heel vaak (80–99%) | In 1 aandoening |
| GDNFglial cell derived neurotrophic factor | Heel vaak (80–99%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 2 aandoeningen |
| MEFVMEFV innate immunity regulator, pyrin | Heel vaak (80–99%) | In 1 aandoening |
| MITFmelanocyte inducing transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| MLH1mutL homolog 1 | Heel vaak (80–99%) | In 1 aandoening |
| MSH2mutS homolog 2 | Heel vaak (80–99%) | In 1 aandoening |
| MSH6mutS homolog 6 | Heel vaak (80–99%) | In 1 aandoening |
| MUTYHmutY DNA glycosylase | Heel vaak (80–99%) | In 1 aandoening |
| NALCNsodium leak channel, non-selective | Heel vaak (80–99%) | In 3 aandoeningen |
| NKX2-1NK2 homeobox 1 | Heel vaak (80–99%) | In 1 aandoening |
| NKX2-5NK2 homeobox 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| NPATnuclear protein, coactivator of histone transcription | Heel vaak (80–99%) | In 1 aandoening |
| NRTNneurturin | Heel vaak (80–99%) | In 1 aandoening |
| PAX8paired box 8 | Heel vaak (80–99%) | In 4 aandoeningen |
| PCCApropionyl-CoA carboxylase subunit alpha | Heel vaak (80–99%) | In 2 aandoeningen |
| PCCBpropionyl-CoA carboxylase subunit beta | Heel vaak (80–99%) | In 2 aandoeningen |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Heel vaak (80–99%) | In 2 aandoeningen |
| PMS1PMS1 homolog 1, mismatch repair system component | Heel vaak (80–99%) | In 1 aandoening |
| PMS2PMS1 homolog 2, mismatch repair system component | Heel vaak (80–99%) | In 1 aandoening |
| POLD1DNA polymerase delta 1, catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| POLEDNA polymerase epsilon, catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| RETret proto-oncogene | Heel vaak (80–99%) | In 5 aandoeningen |
| RPS20ribosomal protein S20 | Heel vaak (80–99%) | In 1 aandoening |
| SCNN1Asodium channel epithelial 1 subunit alpha | Heel vaak (80–99%) | In 1 aandoening |
| SCNN1Bsodium channel epithelial 1 subunit beta | Heel vaak (80–99%) | In 1 aandoening |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Heel vaak (80–99%) | In 1 aandoening |
| SEMA3Csemaphorin 3C | Heel vaak (80–99%) | In 1 aandoening |
| SEMA3Dsemaphorin 3D | Heel vaak (80–99%) | In 1 aandoening |
| SEMA4Asemaphorin 4A | Heel vaak (80–99%) | In 1 aandoening |
| SLC26A4solute carrier family 26 member 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| SMOsmoothened, frizzled class receptor | Heel vaak (80–99%) | In 1 aandoening |
| SOX10SRY-box transcription factor 10 | Heel vaak (80–99%) | In 2 aandoeningen |
| SREBF1sterol regulatory element binding transcription factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| TCF4transcription factor 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| TGFBR2transforming growth factor beta receptor 2 | Heel vaak (80–99%) | In 1 aandoening |
| TSHRthyroid stimulating hormone receptor | Heel vaak (80–99%) | In 3 aandoeningen |
| WACWW domain containing adaptor with coiled-coil | Heel vaak (80–99%) | In 3 aandoeningen |
| AFF4ALF transcription elongation factor 4 | Vaak (30–79%) | In 2 aandoeningen |
| APCAPC regulator of Wnt signaling pathway | Vaak (30–79%) | In 1 aandoening |
| APC2APC regulator of Wnt signaling pathway 2 | Vaak (30–79%) | In 1 aandoening |
| AQP2aquaporin 2 | Vaak (30–79%) | In 2 aandoeningen |
| ARVCFARVCF delta catenin family member | Vaak (30–79%) | In 1 aandoening |
| 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 |
| AVPR2arginine vasopressin receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Vaak (30–79%) | In 1 aandoening |
| BCL10BCL10 immune signaling adaptor | Vaak (30–79%) | In 1 aandoening |
| BIRC3baculoviral IAP repeat containing 3 | Vaak (30–79%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Vaak (30–79%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Vaak (30–79%) | In 1 aandoening |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Vaak (30–79%) | In 1 aandoening |
| CAMTA1calmodulin binding transcription activator 1 | Vaak (30–79%) | In 1 aandoening |
| CASZ1castor zinc finger 1 | Vaak (30–79%) | In 1 aandoening |
| CAVIN1caveolae associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| CDKL5cyclin dependent kinase like 5 | Vaak (30–79%) | In 2 aandoeningen |
| CDONcell adhesion associated, oncogene regulated | Vaak (30–79%) | In 4 aandoeningen |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| CHD8chromodomain helicase DNA binding protein 8 | Vaak (30–79%) | In 1 aandoening |
| CHRM3cholinergic receptor muscarinic 3 | Vaak (30–79%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Vaak (30–79%) | In 1 aandoening |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Vaak (30–79%) | In 1 aandoening |
| CNTNAP2contactin associated protein 2 | Vaak (30–79%) | In 1 aandoening |
| COL7A1collagen type VII alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| COMTcatechol-O-methyltransferase | Vaak (30–79%) | In 1 aandoening |
| COQ2coenzyme Q2, polyprenyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| CREBBPCREB binding lysine acetyltransferase | Vaak (30–79%) | In 3 aandoeningen |
| CRIPTOcripto, EGF-CFC family member | Vaak (30–79%) | In 4 aandoeningen |
| CSNK2A1casein kinase 2 alpha 1 | Vaak (30–79%) | In 1 aandoening |
| CTSHcathepsin H | Vaak (30–79%) | In 1 aandoening |
| DACT1dishevelled binding antagonist of beta catenin 1 | Vaak (30–79%) | In 1 aandoening |
| DDCdopa decarboxylase | Vaak (30–79%) | In 2 aandoeningen |
| DDHD2DDHD domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| DHPSdeoxyhypusine synthase | Vaak (30–79%) | In 1 aandoening |
| DISP1dispatched RND transporter family member 1 | Vaak (30–79%) | In 4 aandoeningen |
| DLL1delta like canonical Notch ligand 1 | Vaak (30–79%) | In 4 aandoeningen |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Vaak (30–79%) | In 1 aandoening |
| DPF2double PHD fingers 2 | Vaak (30–79%) | In 1 aandoening |
| DSEdermatan sulfate epimerase | Vaak (30–79%) | In 1 aandoening |
| DUOX2dual oxidase 2 | Vaak (30–79%) | In 2 aandoeningen |
| DUOXA2dual oxidase maturation factor 2 | Vaak (30–79%) | In 1 aandoening |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Vaak (30–79%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Vaak (30–79%) | In 1 aandoening |
| ELNelastin | Vaak (30–79%) | In 2 aandoeningen |
| EP300EP300 lysine acetyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| EPG5ectopic P-granules 5 autophagy tethering factor | Vaak (30–79%) | In 1 aandoening |
| EXT2exostosin glycosyltransferase 2 | Vaak (30–79%) | In 2 aandoeningen |
| FBXW7F-box and WD repeat domain containing 7 | Vaak (30–79%) | In 1 aandoening |
| FGF8fibroblast growth factor 8 | Vaak (30–79%) | In 4 aandoeningen |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 3 aandoeningen |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Vaak (30–79%) | In 1 aandoening |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Vaak (30–79%) | In 1 aandoening |
| FOXH1forkhead box H1 | Vaak (30–79%) | In 4 aandoeningen |
| FOXP1forkhead box P1 | Vaak (30–79%) | In 2 aandoeningen |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Vaak (30–79%) | In 1 aandoening |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Vaak (30–79%) | In 1 aandoening |
| GAS1growth arrest specific 1 | Vaak (30–79%) | In 4 aandoeningen |
| GGT1gamma-glutamyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| GJC2gap junction protein gamma 2 | Vaak (30–79%) | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Vaak (30–79%) | In 5 aandoeningen |
| GP1BBglycoprotein Ib platelet subunit beta | Vaak (30–79%) | In 1 aandoening |
| GTF2Igeneral transcription factor IIi | Vaak (30–79%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| HCRThypocretin neuropeptide precursor | Vaak (30–79%) | In 1 aandoening |
| HESX1HESX homeobox 1 | Vaak (30–79%) | In 3 aandoeningen |
| HIRAhistone cell cycle regulator | Vaak (30–79%) | In 1 aandoening |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Vaak (30–79%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Vaak (30–79%) | In 1 aandoening |
| HMBShydroxymethylbilane synthase | Vaak (30–79%) | In 2 aandoeningen |
| HPSE2heparanase 2 (inactive) | Vaak (30–79%) | In 2 aandoeningen |
| HSPG2heparan sulfate proteoglycan 2 | Vaak (30–79%) | In 1 aandoening |
| IGHimmunoglobulin heavy locus | Vaak (30–79%) | In 1 aandoening |
| IYDiodotyrosine deiodinase | Vaak (30–79%) | In 1 aandoening |
| JMJD1Cjumonji domain containing 1C | Vaak (30–79%) | In 1 aandoening |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Vaak (30–79%) | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Vaak (30–79%) | In 2 aandoeningen |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Vaak (30–79%) | In 1 aandoening |
| KITKIT proto-oncogene, receptor tyrosine kinase | Vaak (30–79%) | In 2 aandoeningen |
| KMT2Alysine methyltransferase 2A | Vaak (30–79%) | In 1 aandoening |
| LHX3LIM homeobox 3 | Vaak (30–79%) | In 1 aandoening |
| LHX4LIM homeobox 4 | Vaak (30–79%) | In 2 aandoeningen |
| LIMK1LIM domain kinase 1 | Vaak (30–79%) | In 1 aandoening |
| LMX1BLIM homeobox transcription factor 1 beta | Vaak (30–79%) | In 2 aandoeningen |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | Vaak (30–79%) | In 2 aandoeningen |
| LUZP1leucine zipper protein 1 | Vaak (30–79%) | In 1 aandoening |
| MALT1MALT1 paracaspase | Vaak (30–79%) | In 1 aandoening |
| MC2Rmelanocortin 2 receptor | Vaak (30–79%) | In 1 aandoening |
| MDH2malate dehydrogenase 2 | Vaak (30–79%) | In 2 aandoeningen |
| MECP2methyl-CpG binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| MED12mediator complex subunit 12 | Vaak (30–79%) | In 4 aandoeningen |
| MED12Lmediator complex subunit 12L | Vaak (30–79%) | In 1 aandoening |
| MED25mediator complex subunit 25 | Vaak (30–79%) | In 2 aandoeningen |
| METTL27methyltransferase like 27 | Vaak (30–79%) | In 1 aandoening |
| MLXIPLMLX interacting protein like | Vaak (30–79%) | In 1 aandoening |
| MMP23Bmatrix metallopeptidase 23B | Vaak (30–79%) | In 1 aandoening |
| MOGmyelin oligodendrocyte glycoprotein | Vaak (30–79%) | In 1 aandoening |
| MRAPmelanocortin 2 receptor accessory protein | Vaak (30–79%) | In 1 aandoening |
| MRPS34mitochondrial ribosomal protein S34 | Vaak (30–79%) | In 1 aandoening |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Vaak (30–79%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Vaak (30–79%) | In 1 aandoening |
| NGFnerve growth factor | Vaak (30–79%) | In 1 aandoening |
| NNTnicotinamide nucleotide transhydrogenase | Vaak (30–79%) | In 1 aandoening |
| NODALnodal growth differentiation factor | Vaak (30–79%) | In 4 aandoeningen |
| NSD1nuclear receptor binding SET domain protein 1 | Vaak (30–79%) | In 1 aandoening |
| OCA2OCA2 melanosomal transmembrane protein | Vaak (30–79%) | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Vaak (30–79%) | In 2 aandoeningen |
| P2RY11purinergic receptor P2Y11 | Vaak (30–79%) | In 1 aandoening |
| PACS1phosphofurin acidic cluster sorting protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| PDGFRAplatelet derived growth factor receptor alpha | Vaak (30–79%) | In 1 aandoening |
| PDPNpodoplanin | Vaak (30–79%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Vaak (30–79%) | In 1 aandoening |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Vaak (30–79%) | In 1 aandoening |
| PLCH1phospholipase C eta 1 | Vaak (30–79%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Vaak (30–79%) | In 1 aandoening |
| PORCNporcupine O-acyltransferase | Vaak (30–79%) | In 1 aandoening |
| POU1F1POU class 1 homeobox 1 | Vaak (30–79%) | In 2 aandoeningen |
| POU4F1POU class 4 homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Vaak (30–79%) | In 1 aandoening |
| PPOXprotoporphyrinogen oxidase | Vaak (30–79%) | In 2 aandoeningen |
| PRDM16PR/SET domain 16 | Vaak (30–79%) | In 1 aandoening |
| PRKCZprotein kinase C zeta | Vaak (30–79%) | In 1 aandoening |
| PROP1PROP paired-like homeobox 1 | Vaak (30–79%) | In 3 aandoeningen |
| PTCH1patched 1 | Vaak (30–79%) | In 4 aandoeningen |
| RAI1retinoic acid induced 1 | Vaak (30–79%) | In 2 aandoeningen |
| REREarginine-glutamic acid dipeptide repeats | Vaak (30–79%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | Vaak (30–79%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Vaak (30–79%) | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | Vaak (30–79%) | In 1 aandoening |
| RREB1ras responsive element binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| SALL1spalt like transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| SCN10Asodium voltage-gated channel alpha subunit 10 | Vaak (30–79%) | In 1 aandoening |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Vaak (30–79%) | In 2 aandoeningen |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Vaak (30–79%) | In 1 aandoening |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Vaak (30–79%) | In 2 aandoeningen |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Vaak (30–79%) | In 2 aandoeningen |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Vaak (30–79%) | In 4 aandoeningen |
| SDHCsuccinate dehydrogenase complex subunit C | Vaak (30–79%) | In 3 aandoeningen |
| SEC24CSEC24 homolog C, COPII component | Vaak (30–79%) | In 1 aandoening |
| SHHsonic hedgehog signaling molecule | Vaak (30–79%) | In 4 aandoeningen |
| SIsucrase-isomaltase | Vaak (30–79%) | In 1 aandoening |
| SIK3SIK family kinase 3 | Vaak (30–79%) | In 1 aandoening |
| SIX3SIX homeobox 3 | Vaak (30–79%) | In 5 aandoeningen |
| SKISKI proto-oncogene | Vaak (30–79%) | In 1 aandoening |
| SLC1A3solute carrier family 1 member 3 | Vaak (30–79%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC5A5solute carrier family 5 member 5 | Vaak (30–79%) | In 2 aandoeningen |
| SLC6A3solute carrier family 6 member 3 | Vaak (30–79%) | In 2 aandoeningen |
| SLC6A8solute carrier family 6 member 8 | Vaak (30–79%) | In 2 aandoeningen |
| SLC9A6solute carrier family 9 member A6 | Vaak (30–79%) | In 1 aandoening |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Vaak (30–79%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Vaak (30–79%) | In 1 aandoening |
| SPARTspartin | Vaak (30–79%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Vaak (30–79%) | In 2 aandoeningen |
| STAG2STAG2 cohesin complex component | Vaak (30–79%) | In 2 aandoeningen |
| STARsteroidogenic acute regulatory protein | Vaak (30–79%) | In 1 aandoening |
| STILSTIL centriolar assembly protein | Vaak (30–79%) | In 4 aandoeningen |
| STX1Asyntaxin 1A | Vaak (30–79%) | In 1 aandoening |
| STXBP1syntaxin binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| TAF1TATA-box binding protein associated factor 1 | Vaak (30–79%) | In 1 aandoening |
| TBCDtubulin folding cofactor D | Vaak (30–79%) | In 1 aandoening |
| TBL2transducin beta like 2 | Vaak (30–79%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| TGthyroglobulin | Vaak (30–79%) | In 1 aandoening |
| TGIF1TGFB induced factor homeobox 1 | Vaak (30–79%) | In 4 aandoeningen |
| THtyrosine hydroxylase | Vaak (30–79%) | In 1 aandoening |
| TLK2tousled like kinase 2 | Vaak (30–79%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Vaak (30–79%) | In 1 aandoening |
| TNFRSF1ATNF receptor superfamily member 1A | Vaak (30–79%) | In 1 aandoening |
| TNFSF4TNF superfamily member 4 | Vaak (30–79%) | In 1 aandoening |
| TPOthyroid peroxidase | Vaak (30–79%) | In 1 aandoening |
| TSHBthyroid stimulating hormone subunit beta | Vaak (30–79%) | In 1 aandoening |
| TSPOAP1TSPO associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| TTRtransthyretin | Vaak (30–79%) | In 2 aandoeningen |
| TXNRD2thioredoxin reductase 2 | Vaak (30–79%) | In 1 aandoening |
| UBE3Aubiquitin protein ligase E3A | Vaak (30–79%) | In 2 aandoeningen |
| UBE3Bubiquitin protein ligase E3B | Vaak (30–79%) | In 1 aandoening |
| UBE4Bubiquitination factor E4B | Vaak (30–79%) | In 1 aandoening |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Vaak (30–79%) | In 1 aandoening |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Vaak (30–79%) | In 2 aandoeningen |
| VPS37DVPS37D subunit of ESCRT-I | Vaak (30–79%) | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| WDR26WD repeat domain 26 | Vaak (30–79%) | In 2 aandoeningen |
| YME1L1YME1 like 1 ATPase | Vaak (30–79%) | In 1 aandoening |
| ZIC2Zic family zinc finger 2 | Vaak (30–79%) | In 4 aandoeningen |
| ZNF365zinc finger protein 365 | Vaak (30–79%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Soms (5–29%) | In 1 aandoening |
| AFG2AAAA ATPase AFG2A | Soms (5–29%) | In 1 aandoening |
| ALADaminolevulinate dehydratase | Soms (5–29%) | In 1 aandoening |
| ALDOBaldolase, fructose-bisphosphate B | Soms (5–29%) | In 1 aandoening |
| AMNamnion associated transmembrane protein | Soms (5–29%) | In 1 aandoening |
| AMOTL1angiomotin like 1 | Soms (5–29%) | In 1 aandoening |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Soms (5–29%) | In 1 aandoening |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| ATN1atrophin 1 | Soms (5–29%) | In 1 aandoening |
| ATRXATRX chromatin remodeler | Soms (5–29%) | In 3 aandoeningen |
| CD96CD96 molecule | Soms (5–29%) | In 1 aandoening |
| CDC73cell division cycle 73 | Soms (5–29%) | In 2 aandoeningen |
| CDK13cyclin dependent kinase 13 | Soms (5–29%) | In 1 aandoening |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Soms (5–29%) | In 1 aandoening |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Soms (5–29%) | In 1 aandoening |
| CHMP1Acharged multivesicular body protein 1A | Soms (5–29%) | In 1 aandoening |
| CILK1ciliogenesis associated kinase 1 | Soms (5–29%) | In 1 aandoening |
| CISD2CDGSH iron sulfur domain 2 | Soms (5–29%) | In 1 aandoening |
| CUBNcubilin | Soms (5–29%) | In 1 aandoening |
| DLSTdihydrolipoamide S-succinyltransferase | 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 |
| DNMT3ADNA methyltransferase 3 alpha | Soms (5–29%) | In 1 aandoening |
| EPAS1endothelial PAS domain protein 1 | Soms (5–29%) | In 1 aandoening |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| FGF13fibroblast growth factor 13 | Soms (5–29%) | In 1 aandoening |
| FHfumarate hydratase | Soms (5–29%) | In 1 aandoening |
| FOXA2forkhead box A2 | Soms (5–29%) | In 1 aandoening |
| FRMD5FERM domain containing 5 | Soms (5–29%) | In 1 aandoening |
| GRB10growth factor receptor bound protein 10 | Soms (5–29%) | In 1 aandoening |
| HEXBhexosaminidase subunit beta | Soms (5–29%) | In 1 aandoening |
| HIVEP2HIVEP zinc finger 2 | Soms (5–29%) | In 1 aandoening |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Soms (5–29%) | In 3 aandoeningen |
| HTRA2HtrA serine peptidase 2 | Soms (5–29%) | In 1 aandoening |
| KDM6Blysine demethylase 6B | Soms (5–29%) | In 1 aandoening |
| KIF1Bkinesin family member 1B | Soms (5–29%) | In 1 aandoening |
| LAMA3laminin subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| LAMB3laminin subunit beta 3 | Soms (5–29%) | In 1 aandoening |
| LAMC2laminin subunit gamma 2 | Soms (5–29%) | In 1 aandoening |
| LMNB1lamin B1 | Soms (5–29%) | In 1 aandoening |
| LRRK2leucine rich repeat kinase 2 | Soms (5–29%) | In 1 aandoening |
| MAXMYC associated transcriptional regulator X | Soms (5–29%) | In 1 aandoening |
| MEN1menin 1 | 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 |
| NF1neurofibromin 1 | Soms (5–29%) | In 1 aandoening |
| NFIXnuclear factor I X | Soms (5–29%) | In 1 aandoening |
| OTX2orthodenticle homeobox 2 | Soms (5–29%) | In 2 aandoeningen |
| PARK7Parkinsonism associated deglycase | Soms (5–29%) | In 1 aandoening |
| PCGF2polycomb group ring finger 2 | Soms (5–29%) | In 1 aandoening |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Soms (5–29%) | In 1 aandoening |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Soms (5–29%) | In 1 aandoening |
| PINK1PTEN induced kinase 1 | Soms (5–29%) | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Soms (5–29%) | In 1 aandoening |
| PODXLpodocalyxin like | Soms (5–29%) | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Soms (5–29%) | In 3 aandoeningen |
| POLG2DNA polymerase gamma 2, accessory subunit | Soms (5–29%) | In 2 aandoeningen |
| POLRMTRNA polymerase mitochondrial | Soms (5–29%) | In 1 aandoening |
| PRKNparkin RBR E3 ubiquitin protein ligase | Soms (5–29%) | In 1 aandoening |
| PRNPprion protein (Kanno blood group) | Soms (5–29%) | In 2 aandoeningen |
| PROKR2prokineticin receptor 2 | Soms (5–29%) | In 1 aandoening |
| RFX7regulatory factor X7 | Soms (5–29%) | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Soms (5–29%) | In 1 aandoening |
| SATB1SATB homeobox 1 | Soms (5–29%) | In 1 aandoening |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Soms (5–29%) | In 1 aandoening |
| SDHDsuccinate dehydrogenase complex subunit D | Soms (5–29%) | In 2 aandoeningen |
| SIN3ASIN3 transcription regulator family member A | Soms (5–29%) | In 1 aandoening |
| SLC25A11solute carrier family 25 member 11 | Soms (5–29%) | In 1 aandoening |
| SLC25A4solute carrier family 25 member 4 | Soms (5–29%) | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Soms (5–29%) | In 2 aandoeningen |
| SNCAsynuclein alpha | Soms (5–29%) | In 1 aandoening |
| SOX2SRY-box transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| SOX3SRY-box transcription factor 3 | Soms (5–29%) | In 2 aandoeningen |
| SRCAPSnf2 related CREBBP activator protein | 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 |
| TMEM127transmembrane protein 127 | Soms (5–29%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Soms (5–29%) | In 1 aandoening |
| UCHL1ubiquitin C-terminal hydrolase L1 | Soms (5–29%) | In 1 aandoening |
| VHLvon Hippel-Lindau tumor suppressor | Soms (5–29%) | In 2 aandoeningen |
| VPS13Cvacuolar protein sorting 13 homolog C | Soms (5–29%) | In 1 aandoening |
| WFS1wolframin ER transmembrane glycoprotein | Soms (5–29%) | In 1 aandoening |
| WSB2WD repeat and SOCS box containing 2 | Soms (5–29%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Soms (5–29%) | In 3 aandoeningen |
| ZFXzinc finger protein X-linked | Soms (5–29%) | In 1 aandoening |
| CLCNKBchloride voltage-gated channel Kb | Zelden (1–4%) | In 1 aandoening |
| NAB2NGFI-A binding protein 2 | Zelden (1–4%) | In 1 aandoening |
| PORcytochrome p450 oxidoreductase | Zelden (1–4%) | In 1 aandoening |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Zelden (1–4%) | In 1 aandoening |
| SLC12A3solute carrier family 12 member 3 | Zelden (1–4%) | In 2 aandoeningen |
| SPTBN1spectrin beta, non-erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| STAT6signal transducer and activator of transcription 6 | Zelden (1–4%) | In 1 aandoening |
| ACTG2actin gamma 2, smooth muscle | Niet vastgelegd | In 1 aandoening |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Niet vastgelegd | In 1 aandoening |
| ALPLalkaline phosphatase, biomineralization associated | Niet vastgelegd | In 1 aandoening |
| ARID2AT-rich interaction domain 2 | Niet vastgelegd | In 1 aandoening |
| ATXN2ataxin 2 | Niet vastgelegd | In 1 aandoening |
| ATXN3ataxin 3 | Niet vastgelegd | In 1 aandoening |
| ATXN8OSATXN8 opposite strand lncRNA | Niet vastgelegd | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Niet vastgelegd | In 1 aandoening |
| CASRcalcium sensing receptor | Niet vastgelegd | In 1 aandoening |
| CPOXcoproporphyrinogen oxidase | Niet vastgelegd | In 1 aandoening |
| DESdesmin | Niet vastgelegd | In 1 aandoening |
| DHCR77-dehydrocholesterol reductase | Niet vastgelegd | In 1 aandoening |
| ELP1elongator acetyltransferase complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| FLNAfilamin A | Niet vastgelegd | In 1 aandoening |
| FOXG1forkhead box G1 | Niet vastgelegd | In 1 aandoening |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Niet vastgelegd | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Niet vastgelegd | In 1 aandoening |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Niet vastgelegd | In 1 aandoening |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Niet vastgelegd | In 1 aandoening |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Niet vastgelegd | In 1 aandoening |
| MAGEL2MAGE family member L2 | Niet vastgelegd | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Niet vastgelegd | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Niet vastgelegd | In 1 aandoening |
| MAPTmicrotubule associated protein tau | Niet vastgelegd | In 1 aandoening |
| MLYCDmalonyl-CoA decarboxylase | Niet vastgelegd | In 1 aandoening |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Niet vastgelegd | In 1 aandoening |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Niet vastgelegd | In 1 aandoening |
| NRXN1neurexin 1 | Niet vastgelegd | In 1 aandoening |
| SLC12A1solute carrier family 12 member 1 | Niet vastgelegd | In 1 aandoening |
| SNCAIPsynuclein alpha interacting protein | Niet vastgelegd | In 1 aandoening |
| TBL1Xtransducin beta like 1 X-linked | Niet vastgelegd | In 1 aandoening |
| TBPTATA-box binding protein | Niet vastgelegd | In 1 aandoening |
| TCF20transcription factor 20 | Niet vastgelegd | In 1 aandoening |
| THRAthyroid hormone receptor alpha | Niet vastgelegd | In 1 aandoening |
| TYMPthymidine phosphorylase | Niet vastgelegd | In 1 aandoening |
| UNC80unc-80 subunit of NALCN channel complex | Niet vastgelegd | In 1 aandoening |
| VANGL1VANGL planar cell polarity protein 1 | Niet vastgelegd | In 1 aandoening |
| ZMIZ1zinc finger MIZ-type containing 1 | Niet vastgelegd | In 1 aandoening |
| ZSWIM6zinc finger SWIM-type containing 6 | 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.
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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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