Kenmerk
Growth delay
A deficiency or slowing down of growth pre- and postnatally.
Samenvatting
- Ook bekend als
- Delayed growth, Growth deficiency, Growth failure, Poor growth, Very poor growth
- Lichaamssysteem
- Growth abnormality
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Growth delay 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 |
|---|---|---|
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Altijd | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Altijd | In 2 aandoeningen |
| BLMBLM RecQ like helicase | Altijd | In 2 aandoeningen |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altijd | In 4 aandoeningen |
| CANT1calcium activated nucleotidase 1 | Altijd | In 1 aandoening |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Altijd | In 1 aandoening |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Altijd | In 2 aandoeningen |
| CEP57centrosomal protein 57 | Altijd | In 2 aandoeningen |
| CHP1calcineurin like EF-hand protein 1 | Altijd | In 1 aandoening |
| CLCN7Cl-/H+ antiporter 7 | Altijd | In 3 aandoeningen |
| COL4A2collagen type IV alpha 2 chain | Altijd | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Altijd | In 2 aandoeningen |
| CTNNBL1catenin beta like 1 | Altijd | In 1 aandoening |
| CUL7cullin 7 | Altijd | In 1 aandoening |
| DIAPH1diaphanous related formin 1 | Altijd | In 1 aandoening |
| DNASE2deoxyribonuclease 2, lysosomal | Altijd | In 1 aandoening |
| DNM1Ldynamin 1L | Altijd | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Altijd | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Altijd | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Altijd | In 2 aandoeningen |
| EXOSC1exosome component 1 | Altijd | In 1 aandoening |
| EXOSC5exosome component 5 | Altijd | In 1 aandoening |
| FANCBFA complementation group B | Altijd | In 2 aandoeningen |
| FANCLFA complementation group L | Altijd | In 2 aandoeningen |
| FAR1fatty acyl-CoA reductase 1 | Altijd | In 2 aandoeningen |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altijd | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Altijd | In 4 aandoeningen |
| FIG4FIG4 phosphoinositide 5-phosphatase | Altijd | In 1 aandoening |
| FLNAfilamin A | Altijd | In 2 aandoeningen |
| GH1growth hormone 1 | Altijd | In 2 aandoeningen |
| GLYCTKglycerate kinase | Altijd | In 1 aandoening |
| H4C11H4 clustered histone 11 | Altijd | In 1 aandoening |
| H4C3H4 clustered histone 3 | Altijd | In 1 aandoening |
| HMOX1heme oxygenase 1 | Altijd | In 2 aandoeningen |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Altijd | In 2 aandoeningen |
| IDUAalpha-L-iduronidase | Altijd | In 2 aandoeningen |
| IL10RAinterleukin 10 receptor subunit alpha | Altijd | In 1 aandoening |
| IL21interleukin 21 | Altijd | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altijd | In 1 aandoening |
| KARS1lysyl-tRNA synthetase 1 | Altijd | In 2 aandoeningen |
Toon nog 576 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| KCNA4potassium voltage-gated channel subfamily A member 4 | Altijd | In 1 aandoening |
| KDM6Alysine demethylase 6A | Altijd | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Altijd | In 1 aandoening |
| KRT5keratin 5 | Altijd | In 3 aandoeningen |
| LEMD2LEM domain nuclear envelope protein 2 | Altijd | In 1 aandoening |
| LIASlipoic acid synthetase | Altijd | In 1 aandoening |
| LIG1DNA ligase 1 | Altijd | In 1 aandoening |
| LMNAlamin A/C | Altijd | In 2 aandoeningen |
| LRRC7leucine rich repeat containing 7 | Altijd | In 1 aandoening |
| LTBP4latent transforming growth factor beta binding protein 4 | Altijd | In 1 aandoening |
| MALT1MALT1 paracaspase | Altijd | In 1 aandoening |
| MARS1methionyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| MIA3MIA SH3 domain ER export factor 3 | Altijd | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Altijd | In 1 aandoening |
| NBNnibrin | Altijd | In 1 aandoening |
| NDE1nudE neurodevelopment protein 1 | Altijd | In 2 aandoeningen |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Altijd | In 1 aandoening |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Altijd | In 1 aandoening |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Altijd | In 1 aandoening |
| OTULINOTU deubiquitinase with linear linkage specificity | Altijd | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Altijd | In 1 aandoening |
| PGM1phosphoglucomutase 1 | Altijd | In 1 aandoening |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Altijd | In 2 aandoeningen |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Altijd | In 2 aandoeningen |
| POLR3BRNA polymerase III subunit B | Altijd | In 1 aandoening |
| POLR3GLRNA polymerase III subunit GL | Altijd | In 1 aandoening |
| POLR3KRNA polymerase III subunit K | Altijd | In 1 aandoening |
| PSKH1protein serine kinase H1 | Altijd | In 1 aandoening |
| PTCD3pentatricopeptide repeat domain 3 | Altijd | In 1 aandoening |
| PUF60poly(U) binding splicing factor 60 | Altijd | In 1 aandoening |
| RAD50RAD50 double strand break repair protein | Altijd | In 1 aandoening |
| RAD51RAD51 recombinase | Altijd | In 2 aandoeningen |
| RBBP8RB binding protein 8, endonuclease | Altijd | In 1 aandoening |
| RFWD3ring finger and WD repeat domain 3 | Altijd | In 2 aandoeningen |
| RNU6ATACRNA, U6atac small nuclear | Altijd | In 1 aandoening |
| SHMT2serine hydroxymethyltransferase 2 | Altijd | In 1 aandoening |
| SLC25A36solute carrier family 25 member 36 | Altijd | In 1 aandoening |
| SLC30A7solute carrier family 30 member 7 | Altijd | In 1 aandoening |
| SLC30A9solute carrier family 30 member 9 | Altijd | In 1 aandoening |
| SLC4A4solute carrier family 4 member 4 | Altijd | In 1 aandoening |
| SLX4SLX4 structure-specific endonuclease subunit | Altijd | In 2 aandoeningen |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Altijd | In 2 aandoeningen |
| SMC1Astructural maintenance of chromosomes 1A | Altijd | In 3 aandoeningen |
| SONSON DNA and RNA binding protein | Altijd | In 1 aandoening |
| SOX11SRY-box transcription factor 11 | Altijd | In 2 aandoeningen |
| STN1STN1 subunit of CST complex | Altijd | In 1 aandoening |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Altijd | In 1 aandoening |
| TGFB3transforming growth factor beta 3 | Altijd | In 1 aandoening |
| TMEM165transmembrane protein 165 | Altijd | In 1 aandoening |
| TOM1target of myb1 membrane trafficking protein | Altijd | In 1 aandoening |
| TOR1Atorsin family 1 member A | Altijd | In 1 aandoening |
| TP53tumor protein p53 | Altijd | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Altijd | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Altijd | In 1 aandoening |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altijd | In 1 aandoening |
| WNT4Wnt family member 4 | Altijd | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Altijd | In 2 aandoeningen |
| YARS1tyrosyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| ZMPSTE24zinc metallopeptidase STE24 | Altijd | In 1 aandoening |
| ZNF407zinc finger protein 407 | Altijd | In 1 aandoening |
| ACTBactin beta | Heel vaak (80–99%) | In 1 aandoening |
| ACTG1actin gamma 1 | Heel vaak (80–99%) | In 1 aandoening |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| ANTXR2ANTXR cell adhesion molecule 2 | Heel vaak (80–99%) | In 1 aandoening |
| ASPMassembly factor for spindle microtubules | Heel vaak (80–99%) | In 1 aandoening |
| B4GALT7beta-1,4-galactosyltransferase 7 | Heel vaak (80–99%) | In 1 aandoening |
| BAP1BRCA1 associated deubiquitinase 1 | Heel vaak (80–99%) | In 1 aandoening |
| CAMKMTcalmodulin-lysine N-methyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| CDC45cell division cycle 45 | Heel vaak (80–99%) | In 2 aandoeningen |
| CDC6cell division cycle 6 | Heel vaak (80–99%) | In 1 aandoening |
| CDK6cyclin dependent kinase 6 | Heel vaak (80–99%) | In 1 aandoening |
| CDONcell adhesion associated, oncogene regulated | Heel vaak (80–99%) | In 4 aandoeningen |
| CDT1chromatin licensing and DNA replication factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| CENPEcentromere protein E | Heel vaak (80–99%) | In 1 aandoening |
| CEP135centrosomal protein 135 | Heel vaak (80–99%) | In 1 aandoening |
| CEP152centrosomal protein 152 | Heel vaak (80–99%) | In 1 aandoening |
| CITcitron rho-interacting serine/threonine kinase | Heel vaak (80–99%) | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Heel vaak (80–99%) | In 1 aandoening |
| COL7A1collagen type VII alpha 1 chain | Heel vaak (80–99%) | In 6 aandoeningen |
| COPB2coat protein complex I subunit beta 2 | Heel vaak (80–99%) | In 1 aandoening |
| CPAPcentrosome assembly and centriole elongation protein | Heel vaak (80–99%) | In 1 aandoening |
| CPLX1complexin 1 | Heel vaak (80–99%) | In 1 aandoening |
| CRIPTOcripto, EGF-CFC family member | Heel vaak (80–99%) | In 4 aandoeningen |
| CTBP1C-terminal binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| CTNScystinosin, lysosomal cystine transporter | Heel vaak (80–99%) | In 3 aandoeningen |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Heel vaak (80–99%) | In 1 aandoening |
| DCAF17DDB1 and CUL4 associated factor 17 | Heel vaak (80–99%) | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Heel vaak (80–99%) | In 1 aandoening |
| DHCR77-dehydrocholesterol reductase | Heel vaak (80–99%) | In 2 aandoeningen |
| DISP1dispatched RND transporter family member 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| DLL1delta like canonical Notch ligand 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| DMP1dentin matrix acidic phosphoprotein 1 | Heel vaak (80–99%) | In 1 aandoening |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Heel vaak (80–99%) | In 1 aandoening |
| EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Heel vaak (80–99%) | In 2 aandoeningen |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Heel vaak (80–99%) | In 1 aandoening |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Heel vaak (80–99%) | In 1 aandoening |
| ELP1elongator acetyltransferase complex subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Heel vaak (80–99%) | In 1 aandoening |
| FANCGFA complementation group G | Heel vaak (80–99%) | In 2 aandoeningen |
| FGF8fibroblast growth factor 8 | Heel vaak (80–99%) | In 4 aandoeningen |
| FGFRL1fibroblast growth factor receptor like 1 | Heel vaak (80–99%) | In 1 aandoening |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| FOXG1forkhead box G1 | Heel vaak (80–99%) | In 1 aandoening |
| FOXH1forkhead box H1 | Heel vaak (80–99%) | In 4 aandoeningen |
| GAS1growth arrest specific 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| GATMglycine amidinotransferase | Heel vaak (80–99%) | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| GHRgrowth hormone receptor | Heel vaak (80–99%) | In 1 aandoening |
| GHSRgrowth hormone secretagogue receptor | Heel vaak (80–99%) | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Heel vaak (80–99%) | In 5 aandoeningen |
| GMNNgeminin DNA replication inhibitor | Heel vaak (80–99%) | In 1 aandoening |
| HIC1HIC ZBTB transcriptional repressor 1 | Heel vaak (80–99%) | In 1 aandoening |
| HLCSholocarboxylase synthetase | Heel vaak (80–99%) | In 1 aandoening |
| IARS1isoleucyl-tRNA synthetase 1 | Heel vaak (80–99%) | In 1 aandoening |
| IGF1Rinsulin like growth factor 1 receptor | Heel vaak (80–99%) | In 2 aandoeningen |
| IGFALSinsulin like growth factor binding protein acid labile subunit | Heel vaak (80–99%) | In 1 aandoening |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Heel vaak (80–99%) | In 1 aandoening |
| KIF14kinesin family member 14 | Heel vaak (80–99%) | In 1 aandoening |
| KNL1kinetochore scaffold 1 | Heel vaak (80–99%) | In 1 aandoening |
| LAMA3laminin subunit alpha 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| LAMB3laminin subunit beta 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| LAMC2laminin subunit gamma 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| LIG4DNA ligase 4 | Heel vaak (80–99%) | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| MCM7minichromosome maintenance complex component 7 | Heel vaak (80–99%) | In 1 aandoening |
| MCPH1microcephalin 1 | Heel vaak (80–99%) | In 1 aandoening |
| METTL5methyltransferase 5, N6-adenosine | Heel vaak (80–99%) | In 1 aandoening |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Heel vaak (80–99%) | In 1 aandoening |
| MMP1matrix metallopeptidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| MMUTmethylmalonyl-CoA mutase | Heel vaak (80–99%) | In 1 aandoening |
| MYH3myosin heavy chain 3 | Heel vaak (80–99%) | In 1 aandoening |
| MYMKmyomaker, myoblast fusion factor | Heel vaak (80–99%) | In 2 aandoeningen |
| NALCNsodium leak channel, non-selective | Heel vaak (80–99%) | In 1 aandoening |
| NCAPD3non-SMC condensin II complex subunit D3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| NFKBIANFKB inhibitor alpha | Heel vaak (80–99%) | In 1 aandoening |
| NHEJ1non-homologous end joining factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| NODALnodal growth differentiation factor | Heel vaak (80–99%) | In 4 aandoeningen |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Heel vaak (80–99%) | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| NSD2nuclear receptor binding SET domain protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| NUP37nucleoporin 37 | Heel vaak (80–99%) | In 1 aandoening |
| ORC1origin recognition complex subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| ORC4origin recognition complex subunit 4 | Heel vaak (80–99%) | In 1 aandoening |
| ORC6origin recognition complex subunit 6 | Heel vaak (80–99%) | In 1 aandoening |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| PAX8paired box 8 | Heel vaak (80–99%) | In 4 aandoeningen |
| PDCD6IPprogrammed cell death 6 interacting protein | Heel vaak (80–99%) | In 1 aandoening |
| PHC1polyhomeotic homolog 1 | Heel vaak (80–99%) | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Heel vaak (80–99%) | In 1 aandoening |
| PLCH1phospholipase C eta 1 | Heel vaak (80–99%) | In 1 aandoening |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Heel vaak (80–99%) | In 1 aandoening |
| PQBP1polyglutamine binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| PREPLprolyl endopeptidase like | Heel vaak (80–99%) | In 2 aandoeningen |
| PTCH1patched 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Heel vaak (80–99%) | In 1 aandoening |
| PYCR2pyrroline-5-carboxylate reductase 2 | Heel vaak (80–99%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| RPL10ribosomal protein L10 | Heel vaak (80–99%) | In 2 aandoeningen |
| SARS1seryl-tRNA synthetase 1 | Heel vaak (80–99%) | In 1 aandoening |
| SASS6SAS-6 centriolar assembly protein | Heel vaak (80–99%) | In 1 aandoening |
| SCARB2scavenger receptor class B member 2 | Heel vaak (80–99%) | In 1 aandoening |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| SHHsonic hedgehog signaling molecule | Heel vaak (80–99%) | In 4 aandoeningen |
| SIX3SIX homeobox 3 | Heel vaak (80–99%) | In 4 aandoeningen |
| SLC26A4solute carrier family 26 member 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC34A1solute carrier family 34 member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC37A4solute carrier family 37 member 4 | Heel vaak (80–99%) | In 1 aandoening |
| SLC3A1solute carrier family 3 member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SNX10sorting nexin 10 | Heel vaak (80–99%) | In 1 aandoening |
| STAG2STAG2 cohesin complex component | Heel vaak (80–99%) | In 2 aandoeningen |
| STAT1signal transducer and activator of transcription 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| STILSTIL centriolar assembly protein | Heel vaak (80–99%) | In 5 aandoeningen |
| TAF13TATA-box binding protein associated factor 13 | Heel vaak (80–99%) | In 1 aandoening |
| TBCDtubulin folding cofactor D | Heel vaak (80–99%) | In 2 aandoeningen |
| TBR1T-box brain transcription factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| TCF4transcription factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Heel vaak (80–99%) | In 1 aandoening |
| TGIF1TGFB induced factor homeobox 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| TNFSF11TNF superfamily member 11 | Heel vaak (80–99%) | In 1 aandoening |
| TRAPPC10trafficking protein particle complex subunit 10 | Heel vaak (80–99%) | In 1 aandoening |
| TRAPPC14trafficking protein particle complex subunit 14 | Heel vaak (80–99%) | In 1 aandoening |
| TRIM37tripartite motif containing 37 | Heel vaak (80–99%) | In 1 aandoening |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Heel vaak (80–99%) | In 1 aandoening |
| TSHRthyroid stimulating hormone receptor | Heel vaak (80–99%) | In 2 aandoeningen |
| TSHZ3teashirt zinc finger homeobox 3 | Heel vaak (80–99%) | In 1 aandoening |
| WARS1tryptophanyl-tRNA synthetase 1 | Heel vaak (80–99%) | In 1 aandoening |
| WDR62WD repeat domain 62 | Heel vaak (80–99%) | In 1 aandoening |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Heel vaak (80–99%) | In 1 aandoening |
| ZIC2Zic family zinc finger 2 | Heel vaak (80–99%) | In 4 aandoeningen |
| ADA2adenosine deaminase 2 | Vaak (30–79%) | In 1 aandoening |
| AHCYadenosylhomocysteinase | Vaak (30–79%) | In 1 aandoening |
| AHSGalpha 2-HS glycoprotein | Vaak (30–79%) | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Vaak (30–79%) | In 2 aandoeningen |
| ALDOBaldolase, fructose-bisphosphate B | Vaak (30–79%) | In 1 aandoening |
| ANAPC1anaphase promoting complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| ARID1AAT-rich interaction domain 1A | Vaak (30–79%) | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Vaak (30–79%) | In 1 aandoening |
| ARID2AT-rich interaction domain 2 | Vaak (30–79%) | In 1 aandoening |
| ARXaristaless related homeobox | Vaak (30–79%) | In 1 aandoening |
| ATG7autophagy related 7 | Vaak (30–79%) | In 1 aandoening |
| AVParginine vasopressin | Vaak (30–79%) | In 1 aandoening |
| BANF1barrier to autointegration nuclear assembly factor 1 | Vaak (30–79%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Vaak (30–79%) | In 1 aandoening |
| CD55CD55 molecule (Cromer blood group) | Vaak (30–79%) | In 1 aandoening |
| CDKL5cyclin dependent kinase like 5 | Vaak (30–79%) | In 2 aandoeningen |
| CHSY1chondroitin sulfate synthase 1 | Vaak (30–79%) | In 1 aandoening |
| CKAP2Lcytoskeleton associated protein 2L | Vaak (30–79%) | In 1 aandoening |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| CLPBClpB family mitochondrial disaggregase | Vaak (30–79%) | In 2 aandoeningen |
| COG4component of oligomeric golgi complex 4 | Vaak (30–79%) | In 1 aandoening |
| COG6component of oligomeric golgi complex 6 | Vaak (30–79%) | In 1 aandoening |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| CYC1cytochrome c1 | Vaak (30–79%) | In 1 aandoening |
| DEF6DEF6 guanine nucleotide exchange factor | Vaak (30–79%) | In 1 aandoening |
| DLK1delta like non-canonical Notch ligand 1 | Vaak (30–79%) | In 1 aandoening |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Vaak (30–79%) | In 1 aandoening |
| DPF2double PHD fingers 2 | Vaak (30–79%) | In 1 aandoening |
| DZIP1LDAZ interacting zinc finger protein 1 like | Vaak (30–79%) | In 1 aandoening |
| EFL1elongation factor like GTPase 1 | Vaak (30–79%) | In 1 aandoening |
| FAHfumarylacetoacetate hydrolase | Vaak (30–79%) | In 1 aandoening |
| FAM111AFAM111 trypsin like peptidase A | Vaak (30–79%) | In 1 aandoening |
| FAM149B1family with sequence similarity 149 member B1 | Vaak (30–79%) | In 1 aandoening |
| FAT4FAT atypical cadherin 4 | Vaak (30–79%) | In 2 aandoeningen |
| FCHO1FCH and mu domain containing endocytic adaptor 1 | Vaak (30–79%) | In 1 aandoening |
| FGF23fibroblast growth factor 23 | Vaak (30–79%) | In 1 aandoening |
| FOXA2forkhead box A2 | Vaak (30–79%) | In 1 aandoening |
| FOXE1forkhead box E1 | Vaak (30–79%) | In 1 aandoening |
| FRA16Efragile site, distamycin A type, rare, fra(16)(p12.1) | Vaak (30–79%) | In 1 aandoening |
| FRMD4AFERM domain containing 4A | Vaak (30–79%) | In 1 aandoening |
| GATA1GATA binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| GATA4GATA binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| GEMIN4gem nuclear organelle associated protein 4 | Vaak (30–79%) | In 1 aandoening |
| GLI3GLI family zinc finger 3 | Vaak (30–79%) | In 1 aandoening |
| GNB1G protein subunit beta 1 | Vaak (30–79%) | In 2 aandoeningen |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Vaak (30–79%) | In 1 aandoening |
| GORABgolgin, RAB6 interacting | Vaak (30–79%) | In 1 aandoening |
| HBBhemoglobin subunit beta | Vaak (30–79%) | In 2 aandoeningen |
| HEATR3HEAT repeat containing 3 | Vaak (30–79%) | In 1 aandoening |
| HESX1HESX homeobox 1 | Vaak (30–79%) | In 2 aandoeningen |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Vaak (30–79%) | In 2 aandoeningen |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Vaak (30–79%) | In 1 aandoening |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Vaak (30–79%) | In 1 aandoening |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Vaak (30–79%) | In 2 aandoeningen |
| ITGB6integrin subunit beta 6 | Vaak (30–79%) | In 1 aandoening |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Vaak (30–79%) | In 1 aandoening |
| KAT6Alysine acetyltransferase 6A | Vaak (30–79%) | In 2 aandoeningen |
| KAT6Blysine acetyltransferase 6B | Vaak (30–79%) | In 1 aandoening |
| KIAA0753KIAA0753 | Vaak (30–79%) | In 1 aandoening |
| KIF7kinesin family member 7 | Vaak (30–79%) | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Vaak (30–79%) | In 4 aandoeningen |
| KRT14keratin 14 | Vaak (30–79%) | In 2 aandoeningen |
| LHX3LIM homeobox 3 | Vaak (30–79%) | In 1 aandoening |
| LHX4LIM homeobox 4 | Vaak (30–79%) | In 2 aandoeningen |
| LINS1lines homolog 1 | Vaak (30–79%) | In 1 aandoening |
| LIPAlipase A, lysosomal acid type | Vaak (30–79%) | In 1 aandoening |
| LMBRD1LMBR1 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| LRBALPS responsive beige-like anchor protein | Vaak (30–79%) | In 1 aandoening |
| LSSlanosterol synthase | Vaak (30–79%) | In 1 aandoening |
| MBD5methyl-CpG binding domain protein 5 | Vaak (30–79%) | In 1 aandoening |
| MCTP2multiple C2 and transmembrane domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Vaak (30–79%) | In 3 aandoeningen |
| MEG3maternally expressed 3 | Vaak (30–79%) | In 1 aandoening |
| MFFmitochondrial fission factor | Vaak (30–79%) | In 2 aandoeningen |
| MICU1mitochondrial calcium uptake 1 | Vaak (30–79%) | In 1 aandoening |
| MLYCDmalonyl-CoA decarboxylase | Vaak (30–79%) | In 1 aandoening |
| MMACHCmetabolism of cobalamin associated C | Vaak (30–79%) | In 1 aandoening |
| MPV17mitochondrial inner membrane protein MPV17 | Vaak (30–79%) | In 1 aandoening |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Vaak (30–79%) | In 2 aandoeningen |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Vaak (30–79%) | In 1 aandoening |
| MYMXmyomixer, myoblast fusion factor | Vaak (30–79%) | In 1 aandoening |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Vaak (30–79%) | In 1 aandoening |
| NFIXnuclear factor I X | Vaak (30–79%) | In 1 aandoening |
| NHP2NHP2 ribonucleoprotein | Vaak (30–79%) | In 1 aandoening |
| NKX2-1NK2 homeobox 1 | Vaak (30–79%) | In 2 aandoeningen |
| NKX2-5NK2 homeobox 5 | Vaak (30–79%) | In 3 aandoeningen |
| NLRP1NLR family pyrin domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| NLRP3NLR family pyrin domain containing 3 | Vaak (30–79%) | In 2 aandoeningen |
| NRASNRAS proto-oncogene, GTPase | Vaak (30–79%) | In 4 aandoeningen |
| NSUN6NOP2/Sun RNA methyltransferase 6 | Vaak (30–79%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Vaak (30–79%) | In 2 aandoeningen |
| OTX2orthodenticle homeobox 2 | Vaak (30–79%) | In 1 aandoening |
| PDE6Dphosphodiesterase 6D | Vaak (30–79%) | In 1 aandoening |
| PGAP2post-GPI attachment to proteins 2 | Vaak (30–79%) | In 1 aandoening |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Vaak (30–79%) | In 2 aandoeningen |
| PHEXphosphate regulating endopeptidase X-linked | Vaak (30–79%) | In 1 aandoening |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Vaak (30–79%) | In 2 aandoeningen |
| PHKBphosphorylase kinase regulatory subunit beta | Vaak (30–79%) | In 1 aandoening |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Vaak (30–79%) | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Vaak (30–79%) | In 1 aandoening |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Vaak (30–79%) | In 1 aandoening |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Vaak (30–79%) | In 1 aandoening |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Vaak (30–79%) | In 2 aandoeningen |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Vaak (30–79%) | In 1 aandoening |
| PNPLA6patatin like domain 6, lysophospholipase | Vaak (30–79%) | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Vaak (30–79%) | In 1 aandoening |
| POU1F1POU class 1 homeobox 1 | Vaak (30–79%) | In 2 aandoeningen |
| POU3F4POU class 3 homeobox 4 | Vaak (30–79%) | In 1 aandoening |
| PROP1PROP paired-like homeobox 1 | Vaak (30–79%) | In 3 aandoeningen |
| PUS1pseudouridine synthase 1 | Vaak (30–79%) | In 1 aandoening |
| PYCR1pyrroline-5-carboxylate reductase 1 | Vaak (30–79%) | In 1 aandoening |
| PYGLglycogen phosphorylase L | Vaak (30–79%) | In 1 aandoening |
| RECQLRecQ like helicase | Vaak (30–79%) | In 1 aandoening |
| RELREL proto-oncogene, NF-kB subunit | Vaak (30–79%) | In 1 aandoening |
| RPL11ribosomal protein L11 | Vaak (30–79%) | In 2 aandoeningen |
| RPL15ribosomal protein L15 | Vaak (30–79%) | In 1 aandoening |
| RPL18ribosomal protein L18 | Vaak (30–79%) | In 1 aandoening |
| RPL26ribosomal protein L26 | Vaak (30–79%) | In 1 aandoening |
| RPL27ribosomal protein L27 | Vaak (30–79%) | In 1 aandoening |
| RPL31ribosomal protein L31 | Vaak (30–79%) | In 1 aandoening |
| RPL35ribosomal protein L35 | Vaak (30–79%) | In 1 aandoening |
| RPL35Aribosomal protein L35a | Vaak (30–79%) | In 1 aandoening |
| RPL5ribosomal protein L5 | Vaak (30–79%) | In 2 aandoeningen |
| RPL8ribosomal protein L8 | Vaak (30–79%) | In 1 aandoening |
| RPL9ribosomal protein L9 | Vaak (30–79%) | In 1 aandoening |
| RPS10ribosomal protein S10 | Vaak (30–79%) | In 2 aandoeningen |
| RPS15Aribosomal protein S15a | Vaak (30–79%) | In 1 aandoening |
| RPS17ribosomal protein S17 | Vaak (30–79%) | In 2 aandoeningen |
| RPS19ribosomal protein S19 | Vaak (30–79%) | In 1 aandoening |
| RPS20ribosomal protein S20 | Vaak (30–79%) | In 1 aandoening |
| RPS24ribosomal protein S24 | Vaak (30–79%) | In 1 aandoening |
| RPS26ribosomal protein S26 | Vaak (30–79%) | In 2 aandoeningen |
| RPS27ribosomal protein S27 | Vaak (30–79%) | In 1 aandoening |
| RPS28ribosomal protein S28 | Vaak (30–79%) | In 1 aandoening |
| RPS29ribosomal protein S29 | Vaak (30–79%) | In 1 aandoening |
| RPS7ribosomal protein S7 | Vaak (30–79%) | In 2 aandoeningen |
| RTL1retrotransposon Gag like 1 | Vaak (30–79%) | In 1 aandoening |
| SAR1Bsecretion associated Ras related GTPase 1B | Vaak (30–79%) | In 2 aandoeningen |
| SATB2SATB homeobox 2 | Vaak (30–79%) | In 2 aandoeningen |
| SBDSSBDS ribosome maturation factor | Vaak (30–79%) | In 1 aandoening |
| SLC2A2solute carrier family 2 member 2 | Vaak (30–79%) | In 1 aandoening |
| SLC34A3solute carrier family 34 member 3 | Vaak (30–79%) | In 2 aandoeningen |
| SLC7A7solute carrier family 7 member 7 | Vaak (30–79%) | In 1 aandoening |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Vaak (30–79%) | In 1 aandoening |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Vaak (30–79%) | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Vaak (30–79%) | In 1 aandoening |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Vaak (30–79%) | In 1 aandoening |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Vaak (30–79%) | In 1 aandoening |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Vaak (30–79%) | In 1 aandoening |
| SMG9SMG9 nonsense mediated mRNA decay factor | Vaak (30–79%) | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Vaak (30–79%) | In 1 aandoening |
| SOX10SRY-box transcription factor 10 | Vaak (30–79%) | In 1 aandoening |
| SOX3SRY-box transcription factor 3 | Vaak (30–79%) | In 1 aandoening |
| SOX4SRY-box transcription factor 4 | Vaak (30–79%) | In 1 aandoening |
| SPARTspartin | Vaak (30–79%) | In 1 aandoening |
| SPINK5serine peptidase inhibitor Kazal type 5 | Vaak (30–79%) | In 1 aandoening |
| SPRsepiapterin reductase | Vaak (30–79%) | In 2 aandoeningen |
| SRCAPSnf2 related CREBBP activator protein | Vaak (30–79%) | In 1 aandoening |
| STEAP3STEAP3 metalloreductase | Vaak (30–79%) | In 2 aandoeningen |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Vaak (30–79%) | In 2 aandoeningen |
| TBCEtubulin folding cofactor E | Vaak (30–79%) | In 2 aandoeningen |
| TCTN3tectonic family member 3 | Vaak (30–79%) | In 2 aandoeningen |
| TINF2TERF1 interacting nuclear factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| TMEM216transmembrane protein 216 | Vaak (30–79%) | In 1 aandoening |
| TMEM231transmembrane protein 231 | Vaak (30–79%) | In 1 aandoening |
| TMEM67transmembrane protein 67 | Vaak (30–79%) | In 2 aandoeningen |
| TMEM70transmembrane protein 70 | Vaak (30–79%) | In 2 aandoeningen |
| TNFRSF11ATNF receptor superfamily member 11a | Vaak (30–79%) | In 1 aandoening |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Vaak (30–79%) | In 1 aandoening |
| TRHRthyrotropin releasing hormone receptor | Vaak (30–79%) | In 2 aandoeningen |
| TRIP13thyroid hormone receptor interactor 13 | Vaak (30–79%) | In 2 aandoeningen |
| TSHBthyroid stimulating hormone subunit beta | Vaak (30–79%) | In 1 aandoening |
| TSPYL1TSPY like 1 | Vaak (30–79%) | In 2 aandoeningen |
| TSR2TSR2 ribosome maturation factor | Vaak (30–79%) | In 1 aandoening |
| UBE3Bubiquitin protein ligase E3B | Vaak (30–79%) | In 1 aandoening |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Vaak (30–79%) | In 1 aandoening |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Vaak (30–79%) | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| WFS1wolframin ER transmembrane glycoprotein | Vaak (30–79%) | In 1 aandoening |
| XPO1exportin 1 | Vaak (30–79%) | In 1 aandoening |
| XYLT1xylosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| ZMIZ1zinc finger MIZ-type containing 1 | Vaak (30–79%) | In 1 aandoening |
| ZNF292zinc finger protein 292 | Vaak (30–79%) | In 1 aandoening |
| ABCB7ATP binding cassette subfamily B member 7 | Soms (5–29%) | In 1 aandoening |
| ABCD1ATP binding cassette subfamily D member 1 | Soms (5–29%) | In 1 aandoening |
| ALDOAaldolase, fructose-bisphosphate A | Soms (5–29%) | In 1 aandoening |
| AMNamnion associated transmembrane protein | Soms (5–29%) | In 1 aandoening |
| ANK1ankyrin 1 | Soms (5–29%) | In 2 aandoeningen |
| ANTXR1ANTXR cell adhesion molecule 1 | Soms (5–29%) | In 2 aandoeningen |
| AQP2aquaporin 2 | Soms (5–29%) | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Soms (5–29%) | In 1 aandoening |
| ATRXATRX chromatin remodeler | Soms (5–29%) | In 2 aandoeningen |
| AVPR2arginine vasopressin receptor 2 | Soms (5–29%) | In 1 aandoening |
| BCRBCR activator of RhoGEF and GTPase | Soms (5–29%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Soms (5–29%) | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRIP1BRCA1 interacting DNA helicase 1 | Soms (5–29%) | In 1 aandoening |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Soms (5–29%) | In 1 aandoening |
| BUB3BUB3 mitotic checkpoint protein | Soms (5–29%) | In 1 aandoening |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Soms (5–29%) | In 1 aandoening |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Soms (5–29%) | In 1 aandoening |
| CBLIFcobalamin binding intrinsic factor | Soms (5–29%) | In 1 aandoening |
| COL17A1collagen type XVII alpha 1 chain | Soms (5–29%) | In 2 aandoeningen |
| COX7Bcytochrome c oxidase subunit 7B | Soms (5–29%) | In 1 aandoening |
| CRKLCRK like proto-oncogene, adaptor protein | Soms (5–29%) | In 1 aandoening |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Soms (5–29%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Soms (5–29%) | In 2 aandoeningen |
| DOCK2dedicator of cytokinesis 2 | Soms (5–29%) | In 1 aandoening |
| DOCK8dedicator of cytokinesis 8 | Soms (5–29%) | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Soms (5–29%) | In 1 aandoening |
| DPYSdihydropyrimidinase | Soms (5–29%) | In 2 aandoeningen |
| 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 |
| EHMT1euchromatic histone lysine methyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| ENGendoglin | 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 |
| ERCC5ERCC excision repair 5, endonuclease | Soms (5–29%) | In 1 aandoening |
| EXT1exostosin glycosyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| FAAP100FA core complex associated protein 100 | Soms (5–29%) | In 1 aandoening |
| FAM111BFAM111 trypsin like peptidase B | Soms (5–29%) | In 1 aandoening |
| FANCAFA complementation group A | Soms (5–29%) | In 1 aandoening |
| FANCCFA complementation group C | Soms (5–29%) | In 1 aandoening |
| FANCD2FA complementation group D2 | Soms (5–29%) | In 1 aandoening |
| FANCEFA complementation group E | Soms (5–29%) | In 1 aandoening |
| FANCFFA complementation group F | Soms (5–29%) | In 1 aandoening |
| FANCIFA complementation group I | Soms (5–29%) | In 1 aandoening |
| FANCMFA complementation group M | Soms (5–29%) | In 1 aandoening |
| FOXC1forkhead box C1 | Soms (5–29%) | In 1 aandoening |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Soms (5–29%) | In 1 aandoening |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Soms (5–29%) | In 1 aandoening |
| GDNFglial cell derived neurotrophic factor | Soms (5–29%) | In 1 aandoening |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Soms (5–29%) | In 1 aandoening |
| H4C5H4 clustered histone 5 | Soms (5–29%) | In 1 aandoening |
| HCCSholocytochrome c synthase | Soms (5–29%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Soms (5–29%) | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Soms (5–29%) | In 2 aandoeningen |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Soms (5–29%) | In 1 aandoening |
| IL6interleukin 6 | Soms (5–29%) | In 2 aandoeningen |
| ITGB4integrin subunit beta 4 | Soms (5–29%) | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Soms (5–29%) | In 1 aandoening |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Soms (5–29%) | In 1 aandoening |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Soms (5–29%) | In 1 aandoening |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Soms (5–29%) | In 1 aandoening |
| KIF26Akinesin family member 26A | Soms (5–29%) | In 1 aandoening |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Soms (5–29%) | In 1 aandoening |
| MAD2L2mitotic arrest deficient 2 like 2 | Soms (5–29%) | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Soms (5–29%) | In 1 aandoening |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Soms (5–29%) | In 1 aandoening |
| MAPK1mitogen-activated protein kinase 1 | Soms (5–29%) | In 1 aandoening |
| MED12mediator complex subunit 12 | Soms (5–29%) | In 1 aandoening |
| MID1midline 1 | Soms (5–29%) | In 1 aandoening |
| MIFmacrophage migration inhibitory factor | Soms (5–29%) | In 1 aandoening |
| MVKmevalonate kinase | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 2 aandoeningen |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Soms (5–29%) | In 1 aandoening |
| NFE2L2NFE2 like bZIP transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| NRTNneurturin | Soms (5–29%) | In 1 aandoening |
| NTNG1netrin G1 | Soms (5–29%) | In 1 aandoening |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Soms (5–29%) | In 1 aandoening |
| PALB2partner and localizer of BRCA2 | Soms (5–29%) | In 1 aandoening |
| PAX2paired box 2 | Soms (5–29%) | In 1 aandoening |
| PBX1PBX homeobox 1 | Soms (5–29%) | In 2 aandoeningen |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Soms (5–29%) | In 1 aandoening |
| PITX2paired like homeodomain 2 | Soms (5–29%) | In 1 aandoening |
| PLP1proteolipid protein 1 | Soms (5–29%) | In 1 aandoening |
| POMCproopiomelanocortin | Soms (5–29%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Soms (5–29%) | In 1 aandoening |
| RAD51CRAD51 paralog C | Soms (5–29%) | In 1 aandoening |
| RETret proto-oncogene | Soms (5–29%) | In 1 aandoening |
| SECISBP2SECIS binding protein 2 | Soms (5–29%) | In 1 aandoening |
| SEMA3Csemaphorin 3C | Soms (5–29%) | In 1 aandoening |
| SEMA3Dsemaphorin 3D | Soms (5–29%) | In 1 aandoening |
| SMAD4SMAD family member 4 | Soms (5–29%) | In 1 aandoening |
| SMOsmoothened, frizzled class receptor | Soms (5–29%) | In 1 aandoening |
| SOX2SRY-box transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| SREBF1sterol regulatory element binding transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| TIAM1TIAM Rac1 associated GEF 1 | Soms (5–29%) | In 1 aandoening |
| TLR8toll like receptor 8 | Soms (5–29%) | In 1 aandoening |
| TMEM163transmembrane protein 163 | Soms (5–29%) | In 1 aandoening |
| TRNT1tRNA nucleotidyl transferase 1 | Soms (5–29%) | In 1 aandoening |
| TRPS1transcriptional repressor GATA binding 1 | Soms (5–29%) | In 2 aandoeningen |
| TWIST2twist family bHLH transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Soms (5–29%) | In 1 aandoening |
| UPB1beta-ureidopropionase 1 | Soms (5–29%) | In 1 aandoening |
| WDR19WD repeat domain 19 | Soms (5–29%) | In 1 aandoening |
| WWOXWW domain containing oxidoreductase | Soms (5–29%) | In 1 aandoening |
| ZMYM2zinc finger MYM-type containing 2 | Soms (5–29%) | In 1 aandoening |
| ATL1atlastin GTPase 1 | Zelden (1–4%) | In 1 aandoening |
| EPB42erythrocyte membrane protein band 4.2 | Zelden (1–4%) | In 1 aandoening |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Zelden (1–4%) | In 1 aandoening |
| SPTA1spectrin alpha, erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| SPTBspectrin beta, erythrocytic | Zelden (1–4%) | In 1 aandoening |
| ABCD4ATP binding cassette subfamily D member 4 | Niet vastgelegd | In 1 aandoening |
| ACACAacetyl-CoA carboxylase alpha | Niet vastgelegd | In 1 aandoening |
| ADSLadenylosuccinate lyase | Niet vastgelegd | In 1 aandoening |
| AGKacylglycerol kinase | Niet vastgelegd | In 1 aandoening |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Niet vastgelegd | In 1 aandoening |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Niet vastgelegd | In 1 aandoening |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Niet vastgelegd | In 1 aandoening |
| ASXL3ASXL transcriptional regulator 3 | Niet vastgelegd | In 1 aandoening |
| ATP6V0A4ATPase H+ transporting V0 subunit a4 | Niet vastgelegd | In 1 aandoening |
| BCORBCL6 corepressor | Niet vastgelegd | In 1 aandoening |
| CDIN1CDAN1 interacting nuclease 1 | Niet vastgelegd | In 1 aandoening |
| COG7component of oligomeric golgi complex 7 | Niet vastgelegd | In 1 aandoening |
| COLEC10collectin subfamily member 10 | Niet vastgelegd | In 1 aandoening |
| CYB5R3cytochrome b5 reductase 3 | Niet vastgelegd | In 1 aandoening |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Niet vastgelegd | In 2 aandoeningen |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Niet vastgelegd | In 1 aandoening |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Niet vastgelegd | In 1 aandoening |
| CYP3A4cytochrome P450 family 3 subfamily A member 4 | Niet vastgelegd | In 1 aandoening |
| DCHS1dachsous cadherin-related 1 | Niet vastgelegd | In 1 aandoening |
| DGUOKdeoxyguanosine kinase | Niet vastgelegd | In 1 aandoening |
| DHODHdihydroorotate dehydrogenase (quinone) | Niet vastgelegd | In 1 aandoening |
| DSG1desmoglein 1 | Niet vastgelegd | In 1 aandoening |
| DSTdystonin | Niet vastgelegd | In 1 aandoening |
| DUOXA2dual oxidase maturation factor 2 | Niet vastgelegd | In 1 aandoening |
| ELOVL4ELOVL fatty acid elongase 4 | Niet vastgelegd | In 1 aandoening |
| EXOSC3exosome component 3 | Niet vastgelegd | In 1 aandoening |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| FBXL4F-box and leucine rich repeat protein 4 | Niet vastgelegd | In 1 aandoening |
| FTCDformimidoyltransferase cyclodeaminase | Niet vastgelegd | In 1 aandoening |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Niet vastgelegd | In 1 aandoening |
| GKglycerol kinase | Niet vastgelegd | In 1 aandoening |
| GUCY2Dguanylate cyclase 2D, retinal | Niet vastgelegd | In 1 aandoening |
| HADHhydroxyacyl-CoA dehydrogenase | Niet vastgelegd | In 1 aandoening |
| HSD11B2hydroxysteroid 11-beta dehydrogenase 2 | Niet vastgelegd | In 1 aandoening |
| HTRA2HtrA serine peptidase 2 | Niet vastgelegd | In 1 aandoening |
| ISCA1iron-sulfur cluster assembly 1 | Niet vastgelegd | In 1 aandoening |
| IYDiodotyrosine deiodinase | Niet vastgelegd | In 1 aandoening |
| KMT2Clysine methyltransferase 2C | Niet vastgelegd | In 1 aandoening |
| LPIN2lipin 2 | Niet vastgelegd | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Niet vastgelegd | In 1 aandoening |
| MASP1MBL associated serine protease 1 | Niet vastgelegd | In 1 aandoening |
| MDH1malate dehydrogenase 1 | Niet vastgelegd | In 1 aandoening |
| MOCS1molybdenum cofactor synthesis 1 | Niet vastgelegd | In 1 aandoening |
| MOCS2molybdenum cofactor synthesis 2 | Niet vastgelegd | In 1 aandoening |
| MRPS22mitochondrial ribosomal protein S22 | Niet vastgelegd | In 1 aandoening |
| MYO5Bmyosin VB | Niet vastgelegd | In 1 aandoening |
| NDST1N-deacetylase and N-sulfotransferase 1 | Niet vastgelegd | In 1 aandoening |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Niet vastgelegd | In 1 aandoening |
| NOD2nucleotide binding oligomerization domain containing 2 | Niet vastgelegd | In 1 aandoening |
| NPHP1nephrocystin 1 | Niet vastgelegd | In 1 aandoening |
| NPHP4nephrocystin 4 | Niet vastgelegd | In 1 aandoening |
| NPHS1NPHS1 adhesion molecule, nephrin | Niet vastgelegd | In 1 aandoening |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Niet vastgelegd | In 1 aandoening |
| PAX6paired box 6 | Niet vastgelegd | In 1 aandoening |
| PEX19peroxisomal biogenesis factor 19 | Niet vastgelegd | In 1 aandoening |
| PHGDHphosphoglycerate dehydrogenase | Niet vastgelegd | In 1 aandoening |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Niet vastgelegd | In 1 aandoening |
| PIGHphosphatidylinositol glycan anchor biosynthesis class H | Niet vastgelegd | In 1 aandoening |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Niet vastgelegd | In 1 aandoening |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Niet vastgelegd | In 1 aandoening |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| POC1APOC1 centriolar protein A | Niet vastgelegd | In 1 aandoening |
| POLA1DNA polymerase alpha 1, catalytic subunit | Niet vastgelegd | In 1 aandoening |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Niet vastgelegd | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Niet vastgelegd | In 1 aandoening |
| PSMB8proteasome 20S subunit beta 8 | Niet vastgelegd | In 1 aandoening |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Niet vastgelegd | In 1 aandoening |
| RLIMring finger protein, LIM domain interacting | Niet vastgelegd | In 1 aandoening |
| SH3PXD2BSH3 and PX domains 2B | Niet vastgelegd | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Niet vastgelegd | In 1 aandoening |
| SLC10A2solute carrier family 10 member 2 | Niet vastgelegd | In 1 aandoening |
| SLC12A3solute carrier family 12 member 3 | Niet vastgelegd | In 1 aandoening |
| SLC17A5solute carrier family 17 member 5 | Niet vastgelegd | In 1 aandoening |
| SLC25A13solute carrier family 25 member 13 | Niet vastgelegd | In 1 aandoening |
| SLC26A3solute carrier family 26 member 3 | Niet vastgelegd | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Niet vastgelegd | In 1 aandoening |
| SLC5A5solute carrier family 5 member 5 | Niet vastgelegd | In 1 aandoening |
| SMOC1SPARC related modular calcium binding 1 | Niet vastgelegd | In 1 aandoening |
| TATtyrosine aminotransferase | Niet vastgelegd | In 1 aandoening |
| THRAthyroid hormone receptor alpha | Niet vastgelegd | In 1 aandoening |
| TMEM237transmembrane protein 237 | Niet vastgelegd | In 1 aandoening |
| UFM1ubiquitin fold modifier 1 | Niet vastgelegd | In 1 aandoening |
| VDRvitamin D receptor | Niet vastgelegd | In 1 aandoening |
| YARS2tyrosyl-tRNA synthetase 2 | Niet vastgelegd | In 1 aandoening |
| ZBTB18zinc finger and BTB domain containing 18 | Niet vastgelegd | In 1 aandoening |
| ZBTB24zinc finger and BTB domain containing 24 | 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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