Kenmerk
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Samenvatting
- Ook bekend als
- Throwing up, Emesis
- Lichaamssysteem
- Abnormality of the digestive system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Vomiting 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 |
|---|---|---|
| ABCB1ATP binding cassette subfamily B member 1 | Altijd | In 1 aandoening |
| ACSL5acyl-CoA synthetase long chain family member 5 | Altijd | In 1 aandoening |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Altijd | In 1 aandoening |
| ASXL3ASXL transcriptional regulator 3 | Altijd | In 1 aandoening |
| ATP6V1B1ATPase H+ transporting V1 subunit B1 | Altijd | In 1 aandoening |
| CLMPCXADR like cell adhesion molecule | Altijd | In 1 aandoening |
| CYC1cytochrome c1 | Altijd | In 1 aandoening |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altijd | In 1 aandoening |
| FEM1Bfem-1 homolog B | Altijd | In 1 aandoening |
| FLNAfilamin A | Altijd | In 2 aandoeningen |
| GALTgalactose-1-phosphate uridylyltransferase | Altijd | In 2 aandoeningen |
| GANgigaxonin | Altijd | In 1 aandoening |
| GKglycerol kinase | Altijd | In 1 aandoening |
| HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 | Altijd | In 1 aandoening |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altijd | In 1 aandoening |
| KARS1lysyl-tRNA synthetase 1 | Altijd | In 2 aandoeningen |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| KYNUkynureninase | Altijd | In 1 aandoening |
| LIPAlipase A, lysosomal acid type | Altijd | In 2 aandoeningen |
| MARS1methionyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| MPImannose phosphate isomerase | Altijd | In 2 aandoeningen |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Altijd | In 1 aandoening |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Altijd | In 1 aandoening |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Altijd | In 2 aandoeningen |
| NEUROG3neurogenin 3 | Altijd | In 2 aandoeningen |
| RFC4replication factor C subunit 4 | Altijd | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | Altijd | In 1 aandoening |
| RPL17ribosomal protein L17 | Altijd | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Altijd | In 2 aandoeningen |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Altijd | In 2 aandoeningen |
| SLC37A4solute carrier family 37 member 4 | Altijd | In 1 aandoening |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Altijd | In 1 aandoening |
| STX3syntaxin 3 | Altijd | In 1 aandoening |
| TEFMtranscription elongation factor, mitochondrial | Altijd | In 1 aandoening |
| TOM1target of myb1 membrane trafficking protein | Altijd | In 1 aandoening |
| TRMUtRNA mitochondrial 2-thiouridylase | Altijd | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Altijd | In 1 aandoening |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Altijd | In 1 aandoening |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Altijd | In 1 aandoening |
| YARS1tyrosyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
Toon nog 312 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ACAT1acetyl-CoA acetyltransferase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CTNScystinosin, lysosomal cystine transporter | Heel vaak (80–99%) | In 2 aandoeningen |
| CYP11A1cytochrome P450 family 11 subfamily A member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| DLDdihydrolipoamide dehydrogenase | Heel vaak (80–99%) | In 1 aandoening |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| GHSRgrowth hormone secretagogue receptor | Heel vaak (80–99%) | In 1 aandoening |
| HADHhydroxyacyl-CoA dehydrogenase | Heel vaak (80–99%) | In 1 aandoening |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Heel vaak (80–99%) | In 1 aandoening |
| LIG3DNA ligase 3 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Heel vaak (80–99%) | In 1 aandoening |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Heel vaak (80–99%) | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Heel vaak (80–99%) | In 3 aandoeningen |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC22A5solute carrier family 22 member 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| SSR4signal sequence receptor subunit 4 | Heel vaak (80–99%) | In 1 aandoening |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM126Btransmembrane protein 126B | Heel vaak (80–99%) | In 2 aandoeningen |
| TYMPthymidine phosphorylase | Heel vaak (80–99%) | In 2 aandoeningen |
| AAASaladin WD repeat nucleoporin | Vaak (30–79%) | In 1 aandoening |
| ACADMacyl-CoA dehydrogenase medium chain | Vaak (30–79%) | In 2 aandoeningen |
| AIPAHR interacting HSP90 co-chaperone | Vaak (30–79%) | In 1 aandoening |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| ASLargininosuccinate lyase | Vaak (30–79%) | In 2 aandoeningen |
| ASPAaspartoacylase | Vaak (30–79%) | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | 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 |
| ATP7BATPase copper transporting beta | Vaak (30–79%) | In 2 aandoeningen |
| AVParginine vasopressin | Vaak (30–79%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Vaak (30–79%) | In 2 aandoeningen |
| CARD8caspase recruitment domain family member 8 | Vaak (30–79%) | In 1 aandoening |
| CAV1caveolin 1 | Vaak (30–79%) | In 1 aandoening |
| CD55CD55 molecule (Cromer blood group) | Vaak (30–79%) | In 1 aandoening |
| CDH23cadherin related 23 | Vaak (30–79%) | In 2 aandoeningen |
| CDONcell adhesion associated, oncogene regulated | Vaak (30–79%) | In 4 aandoeningen |
| CLDN16claudin 16 | Vaak (30–79%) | In 1 aandoening |
| COL1A1collagen type I alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL4A5collagen type IV alpha 5 chain | Vaak (30–79%) | In 1 aandoening |
| COL4A6collagen type IV alpha 6 chain | Vaak (30–79%) | In 1 aandoening |
| COL5A1collagen type V alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL5A2collagen type V alpha 2 chain | Vaak (30–79%) | In 1 aandoening |
| CPT2carnitine palmitoyltransferase 2 | Vaak (30–79%) | In 2 aandoeningen |
| CRIPTOcripto, EGF-CFC family member | Vaak (30–79%) | In 4 aandoeningen |
| CTNNB1catenin beta 1 | Vaak (30–79%) | In 1 aandoening |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Vaak (30–79%) | In 2 aandoeningen |
| DISP1dispatched RND transporter family member 1 | Vaak (30–79%) | In 4 aandoeningen |
| DLL1delta like canonical Notch ligand 1 | Vaak (30–79%) | In 4 aandoeningen |
| FBP1fructose-bisphosphatase 1 | Vaak (30–79%) | In 1 aandoening |
| FBXL4F-box and leucine rich repeat protein 4 | 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 2 aandoeningen |
| FOXH1forkhead box H1 | Vaak (30–79%) | In 4 aandoeningen |
| GAS1growth arrest specific 1 | Vaak (30–79%) | In 4 aandoeningen |
| GBA1glucosylceramidase beta 1 | Vaak (30–79%) | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Vaak (30–79%) | In 4 aandoeningen |
| GMPPAGDP-mannose pyrophosphorylase A | Vaak (30–79%) | In 1 aandoening |
| GPD1glycerol-3-phosphate dehydrogenase 1 | Vaak (30–79%) | In 1 aandoening |
| HNF4Ahepatocyte nuclear factor 4 alpha | Vaak (30–79%) | In 1 aandoening |
| HSD3B2hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | Vaak (30–79%) | In 1 aandoening |
| ITGB4integrin subunit beta 4 | Vaak (30–79%) | In 1 aandoening |
| IVDisovaleryl-CoA dehydrogenase | Vaak (30–79%) | In 2 aandoeningen |
| MC2Rmelanocortin 2 receptor | Vaak (30–79%) | In 1 aandoening |
| MEN1menin 1 | Vaak (30–79%) | In 2 aandoeningen |
| METMET proto-oncogene, receptor tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| MMACHCmetabolism of cobalamin associated C | Vaak (30–79%) | In 1 aandoening |
| MMUTmethylmalonyl-CoA mutase | Vaak (30–79%) | In 1 aandoening |
| MPV17mitochondrial inner membrane protein MPV17 | Vaak (30–79%) | In 1 aandoening |
| MRAPmelanocortin 2 receptor accessory protein | Vaak (30–79%) | In 1 aandoening |
| MRPL39mitochondrial ribosomal protein L39 | Vaak (30–79%) | In 1 aandoening |
| MRPS7mitochondrial ribosomal protein S7 | Vaak (30–79%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Vaak (30–79%) | In 1 aandoening |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Vaak (30–79%) | In 1 aandoening |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Vaak (30–79%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Vaak (30–79%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Vaak (30–79%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Vaak (30–79%) | In 1 aandoening |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Vaak (30–79%) | In 1 aandoening |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Vaak (30–79%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Vaak (30–79%) | In 1 aandoening |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Vaak (30–79%) | In 1 aandoening |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Vaak (30–79%) | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Vaak (30–79%) | In 1 aandoening |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Vaak (30–79%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Vaak (30–79%) | In 1 aandoening |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Vaak (30–79%) | In 1 aandoening |
| MVKmevalonate kinase | Vaak (30–79%) | In 2 aandoeningen |
| NAGSN-acetylglutamate synthase | Vaak (30–79%) | In 2 aandoeningen |
| NAXDNAD(P)HX dehydratase | Vaak (30–79%) | In 2 aandoeningen |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | 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 |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Vaak (30–79%) | In 1 aandoening |
| NUP214nucleoporin 214 | Vaak (30–79%) | In 1 aandoening |
| OTCornithine transcarbamylase | Vaak (30–79%) | In 1 aandoening |
| OXCT13-oxoacid CoA-transferase 1 | Vaak (30–79%) | In 2 aandoeningen |
| PHGDHphosphoglycerate dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Vaak (30–79%) | In 1 aandoening |
| PLCH1phospholipase C eta 1 | Vaak (30–79%) | In 1 aandoening |
| PLECplectin | Vaak (30–79%) | In 1 aandoening |
| PMM2phosphomannomutase 2 | Vaak (30–79%) | In 2 aandoeningen |
| PRDX1peroxiredoxin 1 | Vaak (30–79%) | In 1 aandoening |
| PTCH1patched 1 | Vaak (30–79%) | In 4 aandoeningen |
| PYCR2pyrroline-5-carboxylate reductase 2 | Vaak (30–79%) | In 1 aandoening |
| RANBP2RAN binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| RRM1ribonucleotide reductase catalytic subunit M1 | Vaak (30–79%) | In 1 aandoening |
| SAA1serum amyloid A1 | Vaak (30–79%) | In 1 aandoening |
| SAR1Bsecretion associated Ras related GTPase 1B | Vaak (30–79%) | In 2 aandoeningen |
| SCNN1Asodium channel epithelial 1 subunit alpha | Vaak (30–79%) | In 2 aandoeningen |
| SCNN1Bsodium channel epithelial 1 subunit beta | Vaak (30–79%) | In 1 aandoening |
| SERPING1serpin family G member 1 | Vaak (30–79%) | In 2 aandoeningen |
| SHHsonic hedgehog signaling molecule | Vaak (30–79%) | In 4 aandoeningen |
| SIsucrase-isomaltase | Vaak (30–79%) | In 1 aandoening |
| SIX3SIX homeobox 3 | Vaak (30–79%) | In 4 aandoeningen |
| SLC19A3solute carrier family 19 member 3 | Vaak (30–79%) | In 1 aandoening |
| SLC1A3solute carrier family 1 member 3 | Vaak (30–79%) | In 2 aandoeningen |
| SLC2A1solute carrier family 2 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC7A7solute carrier family 7 member 7 | Vaak (30–79%) | In 2 aandoeningen |
| SMC1Astructural maintenance of chromosomes 1A | Vaak (30–79%) | In 1 aandoening |
| 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 |
| SYT1synaptotagmin 1 | Vaak (30–79%) | In 1 aandoening |
| TCN2transcobalamin 2 | Vaak (30–79%) | In 1 aandoening |
| TGIF1TGFB induced factor homeobox 1 | Vaak (30–79%) | In 4 aandoeningen |
| TNFRSF1ATNF receptor superfamily member 1A | Vaak (30–79%) | In 2 aandoeningen |
| TRAPPC11trafficking protein particle complex subunit 11 | Vaak (30–79%) | In 1 aandoening |
| TXNRD2thioredoxin reductase 2 | Vaak (30–79%) | In 1 aandoening |
| ZIC2Zic family zinc finger 2 | Vaak (30–79%) | In 4 aandoeningen |
| AASSaminoadipate-semialdehyde synthase | Soms (5–29%) | In 1 aandoening |
| ABCC6ATP binding cassette subfamily C member 6 | Soms (5–29%) | In 1 aandoening |
| ABCC8ATP binding cassette subfamily C member 8 | Soms (5–29%) | In 1 aandoening |
| ACAD8acyl-CoA dehydrogenase family member 8 | Soms (5–29%) | In 1 aandoening |
| ACSF3acyl-CoA synthetase family member 3 | Soms (5–29%) | In 2 aandoeningen |
| ACY1aminoacylase 1 | Soms (5–29%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Soms (5–29%) | In 1 aandoening |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Soms (5–29%) | In 1 aandoening |
| ALDOBaldolase, fructose-bisphosphate B | Soms (5–29%) | In 2 aandoeningen |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| ALX4ALX homeobox 4 | 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 |
| BSNDbarttin CLCNK type accessory subunit beta | Soms (5–29%) | In 1 aandoening |
| CD46CD46 molecule | 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 |
| CFHcomplement factor H | Soms (5–29%) | In 1 aandoening |
| CFIcomplement factor I | Soms (5–29%) | In 1 aandoening |
| CLCNKAchloride voltage-gated channel Ka | Soms (5–29%) | In 1 aandoening |
| CLCNKBchloride voltage-gated channel Kb | Soms (5–29%) | In 1 aandoening |
| COA8cytochrome c oxidase assembly factor 8 | Soms (5–29%) | In 1 aandoening |
| COL25A1collagen type XXV alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| CTRCchymotrypsin C | Soms (5–29%) | In 1 aandoening |
| CUBNcubilin | Soms (5–29%) | In 1 aandoening |
| DBHdopamine beta-hydroxylase | Soms (5–29%) | In 1 aandoening |
| DOLKdolichol kinase | Soms (5–29%) | In 1 aandoening |
| DPYSdihydropyrimidinase | Soms (5–29%) | In 1 aandoening |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Soms (5–29%) | In 1 aandoening |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Soms (5–29%) | In 1 aandoening |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| FBXO22F-box protein 22 | Soms (5–29%) | In 1 aandoening |
| FHfumarate hydratase | Soms (5–29%) | In 1 aandoening |
| FOCADfocadhesin | Soms (5–29%) | In 1 aandoening |
| FOXP3forkhead box P3 | Soms (5–29%) | In 1 aandoening |
| GALCgalactosylceramidase | Soms (5–29%) | In 2 aandoeningen |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Soms (5–29%) | In 1 aandoening |
| GRB10growth factor receptor bound protein 10 | Soms (5–29%) | In 1 aandoening |
| HELLPARHELLP associated long non-coding RNA | Soms (5–29%) | In 1 aandoening |
| HIKESHIheat shock protein nuclear import factor hikeshi | Soms (5–29%) | In 1 aandoening |
| IRAK1interleukin 1 receptor associated kinase 1 | Soms (5–29%) | In 1 aandoening |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Soms (5–29%) | In 1 aandoening |
| KICS2KICSTOR subunit 2 | Soms (5–29%) | In 1 aandoening |
| KIF21Akinesin family member 21A | Soms (5–29%) | In 1 aandoening |
| KITKIT proto-oncogene, receptor tyrosine kinase | 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 |
| LRPPRCleucine rich pentatricopeptide repeat containing | Soms (5–29%) | In 1 aandoening |
| MED12mediator complex subunit 12 | Soms (5–29%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Soms (5–29%) | In 1 aandoening |
| MLYCDmalonyl-CoA decarboxylase | Soms (5–29%) | In 2 aandoeningen |
| MSX2msh homeobox 2 | Soms (5–29%) | In 1 aandoening |
| MT-CYBmitochondrially encoded cytochrome b | Soms (5–29%) | In 1 aandoening |
| MTTPmicrosomal triglyceride transfer protein | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| PCK1phosphoenolpyruvate carboxykinase 1 | Soms (5–29%) | In 1 aandoening |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| PGM1phosphoglucomutase 1 | Soms (5–29%) | In 1 aandoening |
| PHOX2Apaired like homeobox 2A | Soms (5–29%) | In 1 aandoening |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Soms (5–29%) | In 1 aandoening |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Soms (5–29%) | In 2 aandoeningen |
| PSAPprosaposin | Soms (5–29%) | In 1 aandoening |
| RARS1arginyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Soms (5–29%) | In 1 aandoening |
| RYR1ryanodine receptor 1 | Soms (5–29%) | In 1 aandoening |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| SLC22A12solute carrier family 22 member 12 | Soms (5–29%) | In 1 aandoening |
| SLC25A13solute carrier family 25 member 13 | Soms (5–29%) | In 1 aandoening |
| SLC2A9solute carrier family 2 member 9 | Soms (5–29%) | In 1 aandoening |
| SLC5A1solute carrier family 5 member 1 | Soms (5–29%) | In 1 aandoening |
| SPINK1serine peptidase inhibitor Kazal type 1 | Soms (5–29%) | In 1 aandoening |
| SPOUT1SPOUT domain containing methyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| SPP1secreted phosphoprotein 1 | Soms (5–29%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Soms (5–29%) | In 1 aandoening |
| STAT4signal transducer and activator of transcription 4 | Soms (5–29%) | In 1 aandoening |
| STK11serine/threonine kinase 11 | Soms (5–29%) | In 1 aandoening |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Soms (5–29%) | In 1 aandoening |
| SYKspleen associated tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| TREHtrehalase | Soms (5–29%) | In 1 aandoening |
| TUBA1Atubulin alpha 1a | Soms (5–29%) | In 1 aandoening |
| TUBB2Btubulin beta 2B class IIb | Soms (5–29%) | In 1 aandoening |
| TUBB3tubulin beta 3 class III | Soms (5–29%) | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Soms (5–29%) | In 1 aandoening |
| ZFTAzinc finger translocation associated | Soms (5–29%) | In 1 aandoening |
| ZFXzinc finger protein X-linked | Soms (5–29%) | In 1 aandoening |
| ACADVLacyl-CoA dehydrogenase very long chain | Zelden (1–4%) | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Zelden (1–4%) | In 2 aandoeningen |
| ELNelastin | Zelden (1–4%) | In 1 aandoening |
| EPCAMepithelial cell adhesion molecule | Zelden (1–4%) | In 1 aandoening |
| FBLN5fibulin 5 | Zelden (1–4%) | In 1 aandoening |
| GFAPglial fibrillary acidic protein | 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 1 aandoening |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Zelden (1–4%) | In 1 aandoening |
| ACTG2actin gamma 2, smooth muscle | Niet vastgelegd | In 1 aandoening |
| ALADaminolevulinate dehydratase | Niet vastgelegd | In 1 aandoening |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Niet vastgelegd | In 1 aandoening |
| ALPLalkaline phosphatase, biomineralization associated | Niet vastgelegd | In 1 aandoening |
| AQP2aquaporin 2 | Niet vastgelegd | In 1 aandoening |
| ARG1arginase 1 | Niet vastgelegd | In 1 aandoening |
| ASS1argininosuccinate synthase 1 | Niet vastgelegd | In 1 aandoening |
| ATP6V0A4ATPase H+ transporting V0 subunit a4 | Niet vastgelegd | In 1 aandoening |
| ATRXATRX chromatin remodeler | Niet vastgelegd | In 1 aandoening |
| AVPR2arginine vasopressin receptor 2 | Niet vastgelegd | In 1 aandoening |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Niet vastgelegd | In 1 aandoening |
| BOLA3bolA family member 3 | Niet vastgelegd | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Niet vastgelegd | In 1 aandoening |
| BTDbiotinidase | Niet vastgelegd | In 1 aandoening |
| CPOXcoproporphyrinogen oxidase | Niet vastgelegd | In 2 aandoeningen |
| CPS1carbamoyl-phosphate synthase 1 | Niet vastgelegd | In 1 aandoening |
| CYP24A1cytochrome P450 family 24 subfamily A member 1 | Niet vastgelegd | In 1 aandoening |
| DGAT1diacylglycerol O-acyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| DGUOKdeoxyguanosine kinase | Niet vastgelegd | In 1 aandoening |
| DHCR77-dehydrocholesterol reductase | Niet vastgelegd | In 1 aandoening |
| EDNRAendothelin receptor type A | Niet vastgelegd | In 1 aandoening |
| EGFRepidermal growth factor receptor | Niet vastgelegd | In 1 aandoening |
| ELP1elongator acetyltransferase complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Niet vastgelegd | In 1 aandoening |
| ESR1estrogen receptor 1 | Niet vastgelegd | In 1 aandoening |
| ETFAelectron transfer flavoprotein subunit alpha | Niet vastgelegd | In 1 aandoening |
| ETFBelectron transfer flavoprotein subunit beta | Niet vastgelegd | In 1 aandoening |
| ETFDHelectron transfer flavoprotein dehydrogenase | Niet vastgelegd | In 1 aandoening |
| F12coagulation factor XII | Niet vastgelegd | In 1 aandoening |
| GALEUDP-galactose-4-epimerase | Niet vastgelegd | In 1 aandoening |
| GLAgalactosidase alpha | 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 |
| HLCSholocarboxylase synthetase | Niet vastgelegd | In 1 aandoening |
| HMBShydroxymethylbilane synthase | Niet vastgelegd | In 1 aandoening |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Niet vastgelegd | In 1 aandoening |
| KMT2Elysine methyltransferase 2E (inactive) | Niet vastgelegd | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Niet vastgelegd | In 1 aandoening |
| LPLlipoprotein lipase | 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 |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Niet vastgelegd | In 1 aandoening |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Niet vastgelegd | In 1 aandoening |
| MMAAmetabolism of cobalamin associated A | Niet vastgelegd | In 1 aandoening |
| MMABmetabolism of cobalamin associated B | Niet vastgelegd | In 1 aandoening |
| MTHFD1methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | Niet vastgelegd | In 1 aandoening |
| NBASNBAS subunit of NRZ tethering complex | 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 |
| PCCApropionyl-CoA carboxylase subunit alpha | Niet vastgelegd | In 1 aandoening |
| PCCBpropionyl-CoA carboxylase subunit beta | Niet vastgelegd | In 1 aandoening |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Niet vastgelegd | In 1 aandoening |
| PPOXprotoporphyrinogen oxidase | Niet vastgelegd | In 1 aandoening |
| RETret proto-oncogene | Niet vastgelegd | In 1 aandoening |
| SLC12A1solute carrier family 12 member 1 | Niet vastgelegd | In 1 aandoening |
| SLC12A3solute carrier family 12 member 3 | Niet vastgelegd | In 1 aandoening |
| SLC6A8solute carrier family 6 member 8 | Niet vastgelegd | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Niet vastgelegd | In 1 aandoening |
| SUGCTsuccinyl-CoA:glutarate-CoA transferase | Niet vastgelegd | In 1 aandoening |
| TNFtumor necrosis factor | Niet vastgelegd | In 1 aandoening |
| TP53tumor protein p53 | Niet vastgelegd | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | 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
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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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