Kenmerk
Optic atrophy
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Samenvatting
- Ook bekend als
- Optic nerve atrophy, Optic-nerve degeneration
- Lichaamssysteem
- Abnormality of the eye
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Optic atrophy 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 |
|---|---|---|
| ACO2aconitase 2 | Altijd | In 2 aandoeningen |
| ADAM22ADAM metallopeptidase domain 22 | Altijd | In 1 aandoening |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altijd | In 1 aandoening |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Altijd | In 1 aandoening |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Altijd | In 1 aandoening |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Altijd | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Altijd | In 3 aandoeningen |
| BORCS8BLOC-1 related complex subunit 8 | Altijd | In 1 aandoening |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altijd | In 1 aandoening |
| CFAP410cilia and flagella associated protein 410 | Altijd | In 1 aandoening |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altijd | In 1 aandoening |
| CISD2CDGSH iron sulfur domain 2 | Altijd | In 2 aandoeningen |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Altijd | In 1 aandoening |
| COX15cytochrome c oxidase assembly factor COX15 | Altijd | In 1 aandoening |
| COX6B1cytochrome c oxidase subunit 6B1 | Altijd | In 1 aandoening |
| DNM1Ldynamin 1L | Altijd | In 3 aandoeningen |
| DNMT1DNA methyltransferase 1 | Altijd | In 2 aandoeningen |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Altijd | In 1 aandoening |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Altijd | In 1 aandoening |
| EPG5ectopic P-granules 5 autophagy tethering factor | Altijd | In 2 aandoeningen |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Altijd | In 4 aandoeningen |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 3 aandoeningen |
| FGFR2fibroblast growth factor receptor 2 | Altijd | In 6 aandoeningen |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Altijd | In 1 aandoening |
| GRNgranulin precursor | Altijd | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Altijd | In 1 aandoening |
| HMBShydroxymethylbilane synthase | Altijd | In 1 aandoening |
| INTS11integrator complex subunit 11 | Altijd | In 1 aandoening |
| ISCA2iron-sulfur cluster assembly 2 | Altijd | In 2 aandoeningen |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Altijd | In 1 aandoening |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Altijd | In 1 aandoening |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Altijd | In 3 aandoeningen |
| MFN2mitofusin 2 | Altijd | In 4 aandoeningen |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Altijd | In 1 aandoening |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Altijd | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Altijd | In 3 aandoeningen |
| MTPAPmitochondrial poly(A) polymerase | Altijd | In 2 aandoeningen |
| MTRFRmitochondrial translation release factor in rescue | Altijd | In 4 aandoeningen |
| NADK2NAD kinase 2, mitochondrial | Altijd | In 1 aandoening |
Toon nog 612 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| NALCNsodium leak channel, non-selective | Altijd | In 1 aandoening |
| NBASNBAS subunit of NRZ tethering complex | Altijd | In 1 aandoening |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Altijd | In 1 aandoening |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Altijd | In 1 aandoening |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Altijd | In 3 aandoeningen |
| OPA1OPA1 mitochondrial dynamin like GTPase | Altijd | In 6 aandoeningen |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Altijd | In 3 aandoeningen |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Altijd | In 1 aandoening |
| PDXKpyridoxal kinase | Altijd | In 1 aandoening |
| PLAAphospholipase A2 activating protein | Altijd | In 2 aandoeningen |
| PLP1proteolipid protein 1 | Altijd | In 4 aandoeningen |
| POLG2DNA polymerase gamma 2, accessory subunit | Altijd | In 1 aandoening |
| POLR3BRNA polymerase III subunit B | Altijd | In 2 aandoeningen |
| PTCD3pentatricopeptide repeat domain 3 | Altijd | In 1 aandoening |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Altijd | In 1 aandoening |
| RAB18RAB18, member RAS oncogene family | Altijd | In 2 aandoeningen |
| RNF170ring finger protein 170 | Altijd | In 1 aandoening |
| SCO1synthesis of cytochrome C oxidase 1 | Altijd | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Altijd | In 1 aandoening |
| SCYL2SCY1 like pseudokinase 2 | Altijd | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Altijd | In 2 aandoeningen |
| SEC31ASEC31 homolog A, COPII component | Altijd | In 1 aandoening |
| SLC25A19solute carrier family 25 member 19 | Altijd | In 2 aandoeningen |
| SLC30A9solute carrier family 30 member 9 | Altijd | In 1 aandoening |
| SLC44A1solute carrier family 44 member 1 | Altijd | In 1 aandoening |
| SNAPINSNAP associated protein | Altijd | In 1 aandoening |
| SNX10sorting nexin 10 | Altijd | In 1 aandoening |
| SOSTsclerostin | Altijd | In 4 aandoeningen |
| SSBP1single stranded DNA binding protein 1 | Altijd | In 1 aandoening |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Altijd | In 2 aandoeningen |
| SURF1SURF1 cytochrome c oxidase assembly factor | Altijd | In 1 aandoening |
| SV2Asynaptic vesicle glycoprotein 2A | Altijd | In 1 aandoening |
| TACO1translational activator of cytochrome c oxidase I | Altijd | In 2 aandoeningen |
| TFGtrafficking from ER to golgi regulator | Altijd | In 2 aandoeningen |
| UCHL1ubiquitin C-terminal hydrolase L1 | Altijd | In 2 aandoeningen |
| YME1L1YME1 like 1 ATPase | Altijd | In 1 aandoening |
| ABCA4ATP binding cassette subfamily A member 4 | Heel vaak (80–99%) | In 1 aandoening |
| AGBL5AGBL carboxypeptidase 5 | Heel vaak (80–99%) | In 1 aandoening |
| AHI1Abelson helper integration site 1 | Heel vaak (80–99%) | In 1 aandoening |
| AHRaryl hydrocarbon receptor | Heel vaak (80–99%) | In 1 aandoening |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Heel vaak (80–99%) | In 1 aandoening |
| ARL2BPARF like GTPase 2 binding protein | Heel vaak (80–99%) | In 1 aandoening |
| ARL3ARF like GTPase 3 | Heel vaak (80–99%) | In 1 aandoening |
| ARL6ARF like GTPase 6 | Heel vaak (80–99%) | In 1 aandoening |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Heel vaak (80–99%) | In 1 aandoening |
| BBS2Bardet-Biedl syndrome 2 | Heel vaak (80–99%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Heel vaak (80–99%) | In 1 aandoening |
| BEST1bestrophin 1 | Heel vaak (80–99%) | In 1 aandoening |
| C19orf12chromosome 19 open reading frame 12 | Heel vaak (80–99%) | In 2 aandoeningen |
| CA4carbonic anhydrase 4 | Heel vaak (80–99%) | In 1 aandoening |
| CC2D2Acoiled-coil and C2 domain containing 2A | Heel vaak (80–99%) | In 2 aandoeningen |
| CDHR1cadherin related family member 1 | Heel vaak (80–99%) | In 1 aandoening |
| CERKLCERK like autophagy regulator | Heel vaak (80–99%) | In 1 aandoening |
| CFAP20cilia and flagella associated protein 20 | Heel vaak (80–99%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Heel vaak (80–99%) | In 1 aandoening |
| CLRN1clarin 1 | Heel vaak (80–99%) | In 1 aandoening |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| COL4A1collagen type IV alpha 1 chain | Heel vaak (80–99%) | In 1 aandoening |
| COQ8Bcoenzyme Q8B | Heel vaak (80–99%) | In 1 aandoening |
| CRB1crumbs cell polarity complex component 1 | Heel vaak (80–99%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Heel vaak (80–99%) | In 2 aandoeningen |
| CRXcone-rod homeobox | Heel vaak (80–99%) | In 1 aandoening |
| DAG1dystroglycan 1 | Heel vaak (80–99%) | In 1 aandoening |
| DDB2damage specific DNA binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| DHX38DEAH-box helicase 38 | Heel vaak (80–99%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 3 aandoeningen |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 3 aandoeningen |
| ERCC5ERCC excision repair 5, endonuclease | Heel vaak (80–99%) | In 3 aandoeningen |
| EYSEGF-like photoreceptor maintenance factor | Heel vaak (80–99%) | In 1 aandoening |
| FAM161AFAM161 centrosomal protein A | Heel vaak (80–99%) | In 1 aandoening |
| FKRPfukutin related protein | Heel vaak (80–99%) | In 4 aandoeningen |
| FKTNfukutin | Heel vaak (80–99%) | In 5 aandoeningen |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| FSCN2fascin actin-bundling protein 2, retinal | Heel vaak (80–99%) | In 2 aandoeningen |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Heel vaak (80–99%) | In 1 aandoening |
| GMPPBGDP-mannose pyrophosphorylase B | Heel vaak (80–99%) | In 2 aandoeningen |
| GUCA1Bguanylate cyclase activator 1B | Heel vaak (80–99%) | In 1 aandoening |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| HKDC1hexokinase domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Heel vaak (80–99%) | In 1 aandoening |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Heel vaak (80–99%) | In 1 aandoening |
| IFT140intraflagellar transport 140 | Heel vaak (80–99%) | In 2 aandoeningen |
| IFT172intraflagellar transport 172 | Heel vaak (80–99%) | In 1 aandoening |
| IFT43intraflagellar transport 43 | Heel vaak (80–99%) | In 1 aandoening |
| IFT88intraflagellar transport 88 | Heel vaak (80–99%) | In 1 aandoening |
| IMPDH1inosine monophosphate dehydrogenase 1 | Heel vaak (80–99%) | In 1 aandoening |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Heel vaak (80–99%) | In 1 aandoening |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Heel vaak (80–99%) | In 1 aandoening |
| KIAA1549KIAA1549 | Heel vaak (80–99%) | In 1 aandoening |
| KIZkizuna centrosomal protein | Heel vaak (80–99%) | In 1 aandoening |
| KLC2kinesin light chain 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| KLHL7kelch like family member 7 | Heel vaak (80–99%) | In 1 aandoening |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| LRATlecithin retinol acyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| MAKmale germ cell associated kinase | Heel vaak (80–99%) | In 1 aandoening |
| MERTKMER proto-oncogene, tyrosine kinase | Heel vaak (80–99%) | In 1 aandoening |
| NEK2NIMA related kinase 2 | Heel vaak (80–99%) | In 1 aandoening |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Heel vaak (80–99%) | In 1 aandoening |
| NRLneural retina leucine zipper | Heel vaak (80–99%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Heel vaak (80–99%) | In 1 aandoening |
| PAX6paired box 6 | Heel vaak (80–99%) | In 1 aandoening |
| PCAREphotoreceptor cilium actin regulator | Heel vaak (80–99%) | In 1 aandoening |
| PDE6Aphosphodiesterase 6A | Heel vaak (80–99%) | In 1 aandoening |
| PDE6Bphosphodiesterase 6B | Heel vaak (80–99%) | In 1 aandoening |
| PDE6Gphosphodiesterase 6G | Heel vaak (80–99%) | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| PEX10peroxisomal biogenesis factor 10 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX11Bperoxisomal biogenesis factor 11 beta | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX12peroxisomal biogenesis factor 12 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX13peroxisomal biogenesis factor 13 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX14peroxisomal biogenesis factor 14 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX16peroxisomal biogenesis factor 16 | Heel vaak (80–99%) | In 4 aandoeningen |
| PEX19peroxisomal biogenesis factor 19 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX2peroxisomal biogenesis factor 2 | Heel vaak (80–99%) | In 4 aandoeningen |
| PEX26peroxisomal biogenesis factor 26 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX3peroxisomal biogenesis factor 3 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX5peroxisomal biogenesis factor 5 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX6peroxisomal biogenesis factor 6 | Heel vaak (80–99%) | In 5 aandoeningen |
| PNPLA6patatin like domain 6, lysophospholipase | Heel vaak (80–99%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Heel vaak (80–99%) | In 6 aandoeningen |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Heel vaak (80–99%) | In 1 aandoening |
| POMKprotein O-mannose kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| POMT1protein O-mannosyltransferase 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| POMT2protein O-mannosyltransferase 2 | Heel vaak (80–99%) | In 4 aandoeningen |
| PPIBpeptidylprolyl isomerase B | Heel vaak (80–99%) | In 1 aandoening |
| PRCDphotoreceptor disc component | Heel vaak (80–99%) | In 1 aandoening |
| PROM1prominin 1 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF3pre-mRNA processing factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF31pre-mRNA processing factor 31 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF6pre-mRNA processing factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF8pre-mRNA processing factor 8 | Heel vaak (80–99%) | In 1 aandoening |
| PRPH2peripherin 2 | Heel vaak (80–99%) | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| RBMXRNA binding motif protein X-linked | Heel vaak (80–99%) | In 2 aandoeningen |
| RBP3retinol binding protein 3 | Heel vaak (80–99%) | In 1 aandoening |
| RDH12retinol dehydrogenase 12 | Heel vaak (80–99%) | In 1 aandoening |
| REEP6receptor accessory protein 6 | Heel vaak (80–99%) | In 1 aandoening |
| RELREL proto-oncogene, NF-kB subunit | Heel vaak (80–99%) | In 1 aandoening |
| RGRretinal G protein coupled receptor | Heel vaak (80–99%) | In 1 aandoening |
| RHOrhodopsin | Heel vaak (80–99%) | In 1 aandoening |
| RLBP1retinaldehyde binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| RNF216ring finger protein 216 | Heel vaak (80–99%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Heel vaak (80–99%) | In 1 aandoening |
| RNU6-1RNA, U6 small nuclear 1 | Heel vaak (80–99%) | In 1 aandoening |
| RNU6-2RNA, U6 small nuclear 2 | Heel vaak (80–99%) | In 1 aandoening |
| RNU6-8RNA, U6 small nuclear 8 | Heel vaak (80–99%) | In 1 aandoening |
| RNU6-9RNA, U6 small nuclear 9 | Heel vaak (80–99%) | In 1 aandoening |
| ROM1retinal outer segment membrane protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| RP1RP1 axonemal microtubule associated | Heel vaak (80–99%) | In 1 aandoening |
| RP1L1RP1 like 1 | Heel vaak (80–99%) | In 1 aandoening |
| RP2RP2 activator of ARL3 GTPase | Heel vaak (80–99%) | In 1 aandoening |
| RP9RP9 pre-mRNA splicing factor | Heel vaak (80–99%) | In 1 aandoening |
| RPE65retinoid isomerohydrolase RPE65 | Heel vaak (80–99%) | In 1 aandoening |
| RPGRretinitis pigmentosa GTPase regulator | Heel vaak (80–99%) | In 1 aandoening |
| RXYLT1ribitol xylosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| SAGS-antigen visual arrestin | Heel vaak (80–99%) | In 1 aandoening |
| SAXO6stabilizer of axonemal microtubules 6 | Heel vaak (80–99%) | In 1 aandoening |
| SCAPERS-phase cyclin A associated protein in the ER | Heel vaak (80–99%) | In 1 aandoening |
| SEMA4Asemaphorin 4A | Heel vaak (80–99%) | In 1 aandoening |
| SLC29A3solute carrier family 29 member 3 | Heel vaak (80–99%) | In 1 aandoening |
| SLC7A14solute carrier family 7 member 14 | Heel vaak (80–99%) | In 1 aandoening |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Heel vaak (80–99%) | In 1 aandoening |
| SPATA7spermatogenesis associated 7 | Heel vaak (80–99%) | In 1 aandoening |
| SRD5A3steroid 5 alpha-reductase 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| TBC1D20TBC1 domain family member 20 | Heel vaak (80–99%) | In 2 aandoeningen |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Heel vaak (80–99%) | In 2 aandoeningen |
| TMEM216transmembrane protein 216 | Heel vaak (80–99%) | In 2 aandoeningen |
| TNFRSF11ATNF receptor superfamily member 11a | Heel vaak (80–99%) | In 3 aandoeningen |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Heel vaak (80–99%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Heel vaak (80–99%) | In 1 aandoening |
| TUBTUB bipartite transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| TULP1TUB like protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Heel vaak (80–99%) | In 2 aandoeningen |
| UBE3Bubiquitin protein ligase E3B | Heel vaak (80–99%) | In 1 aandoening |
| USH2Ausherin | Heel vaak (80–99%) | In 1 aandoening |
| WDR73WD repeat domain 73 | Heel vaak (80–99%) | In 2 aandoeningen |
| WFS1wolframin ER transmembrane glycoprotein | Heel vaak (80–99%) | In 4 aandoeningen |
| XPAXPA, DNA damage recognition and repair factor | Heel vaak (80–99%) | In 1 aandoening |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Heel vaak (80–99%) | In 1 aandoening |
| XPO1exportin 1 | Heel vaak (80–99%) | In 1 aandoening |
| ZNF408zinc finger protein 408 | Heel vaak (80–99%) | In 1 aandoening |
| ZNF513zinc finger protein 513 | Heel vaak (80–99%) | In 1 aandoening |
| ZNF592zinc finger protein 592 | Heel vaak (80–99%) | In 1 aandoening |
| ZNHIT3zinc finger HIT-type containing 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| ACOX1acyl-CoA oxidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| ADARadenosine deaminase RNA specific | Vaak (30–79%) | In 1 aandoening |
| AFF4ALF transcription elongation factor 4 | Vaak (30–79%) | In 1 aandoening |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Vaak (30–79%) | In 1 aandoening |
| AMPD2adenosine monophosphate deaminase 2 | Vaak (30–79%) | In 1 aandoening |
| ANKHANKH inorganic pyrophosphate transport regulator | Vaak (30–79%) | In 1 aandoening |
| ANTXR1ANTXR cell adhesion molecule 1 | Vaak (30–79%) | In 2 aandoeningen |
| ARSAarylsulfatase A | Vaak (30–79%) | In 4 aandoeningen |
| ASPAaspartoacylase | Vaak (30–79%) | In 2 aandoeningen |
| ASXL1ASXL transcriptional regulator 1 | Vaak (30–79%) | In 1 aandoening |
| ATAD3AATPase family AAA domain containing 3A | Vaak (30–79%) | In 2 aandoeningen |
| ATG7autophagy related 7 | Vaak (30–79%) | In 1 aandoening |
| ATXN7ataxin 7 | Vaak (30–79%) | In 1 aandoening |
| B9D1B9 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| B9D2B9 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| BCAP31B cell receptor associated protein 31 | Vaak (30–79%) | In 2 aandoeningen |
| BTDbiotinidase | Vaak (30–79%) | In 2 aandoeningen |
| CASP2caspase 2 | Vaak (30–79%) | In 1 aandoening |
| CCT3chaperonin containing TCP1 subunit 3 | Vaak (30–79%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Vaak (30–79%) | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Vaak (30–79%) | In 1 aandoening |
| CKAP2Lcytoskeleton associated protein 2L | Vaak (30–79%) | In 2 aandoeningen |
| CLCN7Cl-/H+ antiporter 7 | Vaak (30–79%) | In 2 aandoeningen |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Vaak (30–79%) | In 1 aandoening |
| COA8cytochrome c oxidase assembly factor 8 | Vaak (30–79%) | In 1 aandoening |
| CPLX1complexin 1 | Vaak (30–79%) | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| CTBP1C-terminal binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| DIAPH1diaphanous related formin 1 | Vaak (30–79%) | In 2 aandoeningen |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Vaak (30–79%) | In 1 aandoening |
| DNM1dynamin 1 | Vaak (30–79%) | In 2 aandoeningen |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Vaak (30–79%) | In 2 aandoeningen |
| ELP4elongator acetyltransferase complex subunit 4 | Vaak (30–79%) | In 1 aandoening |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Vaak (30–79%) | In 4 aandoeningen |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Vaak (30–79%) | In 2 aandoeningen |
| EXOSC3exosome component 3 | Vaak (30–79%) | In 1 aandoening |
| EXOSC5exosome component 5 | Vaak (30–79%) | In 1 aandoening |
| EXOSC8exosome component 8 | Vaak (30–79%) | In 1 aandoening |
| EXOSC9exosome component 9 | Vaak (30–79%) | In 1 aandoening |
| FA2Hfatty acid 2-hydroxylase | Vaak (30–79%) | In 3 aandoeningen |
| FCSKfucose kinase | Vaak (30–79%) | In 1 aandoening |
| FLVCR1FLVCR choline and heme transporter 1 | Vaak (30–79%) | In 2 aandoeningen |
| FXNfrataxin | Vaak (30–79%) | In 2 aandoeningen |
| GEMIN4gem nuclear organelle associated protein 4 | Vaak (30–79%) | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Vaak (30–79%) | In 2 aandoeningen |
| GLAgalactosidase alpha | Vaak (30–79%) | In 1 aandoening |
| GLRX5glutaredoxin 5 | Vaak (30–79%) | In 2 aandoeningen |
| GNAQG protein subunit alpha q | Vaak (30–79%) | In 1 aandoening |
| HIKESHIheat shock protein nuclear import factor hikeshi | Vaak (30–79%) | In 1 aandoening |
| HK1hexokinase 1 | Vaak (30–79%) | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| INTS8integrator complex subunit 8 | Vaak (30–79%) | In 1 aandoening |
| KAT6Alysine acetyltransferase 6A | Vaak (30–79%) | In 2 aandoeningen |
| KCTD7potassium channel tetramerization domain containing 7 | Vaak (30–79%) | In 2 aandoeningen |
| KIF1Akinesin family member 1A | Vaak (30–79%) | In 1 aandoening |
| LAMB1laminin subunit beta 1 | Vaak (30–79%) | In 2 aandoeningen |
| MFFmitochondrial fission factor | Vaak (30–79%) | In 2 aandoeningen |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Vaak (30–79%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| MMACHCmetabolism of cobalamin associated C | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 6 aandoeningen |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Vaak (30–79%) | In 2 aandoeningen |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Vaak (30–79%) | In 3 aandoeningen |
| MT-CYBmitochondrially encoded cytochrome b | Vaak (30–79%) | In 3 aandoeningen |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Vaak (30–79%) | In 4 aandoeningen |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Vaak (30–79%) | In 3 aandoeningen |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Vaak (30–79%) | In 4 aandoeningen |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Vaak (30–79%) | In 2 aandoeningen |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Vaak (30–79%) | In 5 aandoeningen |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Vaak (30–79%) | In 4 aandoeningen |
| MT-RNR1mitochondrially encoded 12S rRNA | Vaak (30–79%) | In 1 aandoening |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Vaak (30–79%) | In 2 aandoeningen |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Vaak (30–79%) | In 2 aandoeningen |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Vaak (30–79%) | In 2 aandoeningen |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Vaak (30–79%) | In 3 aandoeningen |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Vaak (30–79%) | In 1 aandoening |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Vaak (30–79%) | In 2 aandoeningen |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Vaak (30–79%) | In 2 aandoeningen |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| MTO1mitochondrial tRNA translation optimization 1 | Vaak (30–79%) | In 2 aandoeningen |
| NAGAalpha-N-acetylgalactosaminidase | Vaak (30–79%) | In 2 aandoeningen |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Vaak (30–79%) | In 1 aandoening |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Vaak (30–79%) | In 1 aandoening |
| NELFAnegative elongation factor complex member A | Vaak (30–79%) | In 1 aandoening |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Vaak (30–79%) | In 2 aandoeningen |
| NSD2nuclear receptor binding SET domain protein 2 | Vaak (30–79%) | In 1 aandoening |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Vaak (30–79%) | In 2 aandoeningen |
| NUP54nucleoporin 54 | Vaak (30–79%) | In 1 aandoening |
| NUP62nucleoporin 62 | Vaak (30–79%) | In 2 aandoeningen |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Vaak (30–79%) | In 1 aandoening |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Vaak (30–79%) | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Vaak (30–79%) | In 3 aandoeningen |
| PLK4polo like kinase 4 | Vaak (30–79%) | In 2 aandoeningen |
| POGZpogo transposable element derived with ZNF domain | Vaak (30–79%) | In 2 aandoeningen |
| POLGDNA polymerase gamma, catalytic subunit | Vaak (30–79%) | In 3 aandoeningen |
| POLR1ARNA polymerase I subunit A | Vaak (30–79%) | In 1 aandoening |
| POLR3KRNA polymerase III subunit K | Vaak (30–79%) | In 1 aandoening |
| POU3F4POU class 3 homeobox 4 | Vaak (30–79%) | In 1 aandoening |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Vaak (30–79%) | In 1 aandoening |
| PRUNE1prune exopolyphosphatase 1 | Vaak (30–79%) | In 2 aandoeningen |
| PSAPprosaposin | Vaak (30–79%) | In 5 aandoeningen |
| RBL2RB transcriptional corepressor like 2 | Vaak (30–79%) | In 1 aandoening |
| RFC1replication factor C subunit 1 | Vaak (30–79%) | In 1 aandoening |
| RPGRIP1RPGR interacting protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| RPGRIP1LRPGRIP1 like | Vaak (30–79%) | In 1 aandoening |
| RSPO2R-spondin 2 | Vaak (30–79%) | In 1 aandoening |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Vaak (30–79%) | In 1 aandoening |
| SEMA3Esemaphorin 3E | Vaak (30–79%) | In 1 aandoening |
| SLC19A2solute carrier family 19 member 2 | Vaak (30–79%) | In 2 aandoeningen |
| SLC25A46solute carrier family 25 member 46 | Vaak (30–79%) | In 3 aandoeningen |
| SLC6A9solute carrier family 6 member 9 | Vaak (30–79%) | In 1 aandoening |
| SMOC1SPARC related modular calcium binding 1 | Vaak (30–79%) | In 1 aandoening |
| SNAP29synaptosome associated protein 29 | Vaak (30–79%) | In 1 aandoening |
| SNF8SNF8 subunit of ESCRT-II | Vaak (30–79%) | In 1 aandoening |
| SOX5SRY-box transcription factor 5 | Vaak (30–79%) | In 2 aandoeningen |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Vaak (30–79%) | In 2 aandoeningen |
| STAMBPSTAM binding protein | Vaak (30–79%) | In 1 aandoening |
| SUMF1sulfatase modifying factor 1 | Vaak (30–79%) | In 1 aandoening |
| TBC1D2BTBC1 domain family member 2B | Vaak (30–79%) | In 1 aandoening |
| TBCDtubulin folding cofactor D | Vaak (30–79%) | In 2 aandoeningen |
| TBCEtubulin folding cofactor E | Vaak (30–79%) | In 2 aandoeningen |
| TBX4T-box transcription factor 4 | Vaak (30–79%) | In 1 aandoening |
| TCTN1tectonic family member 1 | Vaak (30–79%) | In 1 aandoening |
| TCTN2tectonic family member 2 | Vaak (30–79%) | In 1 aandoening |
| TCTN3tectonic family member 3 | Vaak (30–79%) | In 1 aandoening |
| TEFMtranscription elongation factor, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| THG1LtRNA-histidine guanylyltransferase 1 like | Vaak (30–79%) | In 1 aandoening |
| TIMM50translocase of inner mitochondrial membrane 50 | Vaak (30–79%) | In 2 aandoeningen |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Vaak (30–79%) | In 1 aandoening |
| TMEM107transmembrane protein 107 | Vaak (30–79%) | In 1 aandoening |
| TMEM231transmembrane protein 231 | Vaak (30–79%) | In 1 aandoening |
| TMEM237transmembrane protein 237 | Vaak (30–79%) | In 2 aandoeningen |
| TMEM67transmembrane protein 67 | Vaak (30–79%) | In 1 aandoening |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Vaak (30–79%) | In 2 aandoeningen |
| TNFRSF11BTNF receptor superfamily member 11b | Vaak (30–79%) | In 1 aandoening |
| TOE1target of EGR1, exonuclease | Vaak (30–79%) | In 2 aandoeningen |
| TRAPPC12trafficking protein particle complex subunit 12 | Vaak (30–79%) | In 2 aandoeningen |
| TUBGCP4tubulin gamma complex component 4 | Vaak (30–79%) | In 1 aandoening |
| TUBGCP6tubulin gamma complex component 6 | Vaak (30–79%) | In 1 aandoening |
| TXNDC15thioredoxin domain containing 15 | Vaak (30–79%) | In 1 aandoening |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Vaak (30–79%) | In 2 aandoeningen |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Vaak (30–79%) | In 2 aandoeningen |
| VPS53VPS53 subunit of GARP complex | Vaak (30–79%) | In 1 aandoening |
| VRK1VRK serine/threonine kinase 1 | Vaak (30–79%) | In 1 aandoening |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| WNT3Wnt family member 3 | Vaak (30–79%) | In 1 aandoening |
| AAASaladin WD repeat nucleoporin | Soms (5–29%) | In 2 aandoeningen |
| ADA2adenosine deaminase 2 | Soms (5–29%) | In 1 aandoening |
| AIREautoimmune regulator | Soms (5–29%) | In 1 aandoening |
| AKT3AKT serine/threonine kinase 3 | Soms (5–29%) | In 1 aandoening |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Soms (5–29%) | In 1 aandoening |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Soms (5–29%) | In 1 aandoening |
| ARVCFARVCF delta catenin family member | Soms (5–29%) | In 1 aandoening |
| ATP5F1AATP synthase F1 subunit alpha | Soms (5–29%) | In 1 aandoening |
| ATP5F1DATP synthase F1 subunit delta | Soms (5–29%) | In 1 aandoening |
| ATP5F1EATP synthase F1 subunit epsilon | Soms (5–29%) | In 1 aandoening |
| ATP5MKATP synthase membrane subunit k | Soms (5–29%) | In 1 aandoening |
| ATP5POATP synthase peripheral stalk subunit OSCP | Soms (5–29%) | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Soms (5–29%) | In 2 aandoeningen |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Soms (5–29%) | In 1 aandoening |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Soms (5–29%) | In 1 aandoening |
| ATRXATRX chromatin remodeler | Soms (5–29%) | In 2 aandoeningen |
| ATXN1ataxin 1 | Soms (5–29%) | In 2 aandoeningen |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Soms (5–29%) | In 1 aandoening |
| B3GLCTbeta 3-glucosyltransferase | Soms (5–29%) | In 1 aandoening |
| BOLA3bolA family member 3 | Soms (5–29%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Soms (5–29%) | In 2 aandoeningen |
| BRAT1BRCA1 associated ATM activator 1 | Soms (5–29%) | In 1 aandoening |
| CA2carbonic anhydrase 2 | Soms (5–29%) | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Soms (5–29%) | In 1 aandoening |
| CASRcalcium sensing receptor | Soms (5–29%) | In 1 aandoening |
| CASZ1castor zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| CBScystathionine beta-synthase | Soms (5–29%) | In 1 aandoening |
| CCDC22CCC complex scaffolding subunit CCDC22 | Soms (5–29%) | In 1 aandoening |
| CDC42cell division cycle 42 | Soms (5–29%) | In 2 aandoeningen |
| CHSY1chondroitin sulfate synthase 1 | Soms (5–29%) | In 2 aandoeningen |
| CLCN3Cl-/H+ antiporter 3 | Soms (5–29%) | In 1 aandoening |
| CNOT3CCR4-NOT transcription complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| COG6component of oligomeric golgi complex 6 | Soms (5–29%) | In 1 aandoening |
| COMTcatechol-O-methyltransferase | Soms (5–29%) | In 1 aandoening |
| CPSF3cleavage and polyadenylation specific factor 3 | Soms (5–29%) | In 1 aandoening |
| CSF1Rcolony stimulating factor 1 receptor | Soms (5–29%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Soms (5–29%) | In 2 aandoeningen |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Soms (5–29%) | In 1 aandoening |
| DGUOKdeoxyguanosine kinase | Soms (5–29%) | In 1 aandoening |
| DHCR77-dehydrocholesterol reductase | Soms (5–29%) | In 1 aandoening |
| DNA2DNA replication helicase/nuclease 2 | Soms (5–29%) | In 1 aandoening |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Soms (5–29%) | In 2 aandoeningen |
| DOCK6dedicator of cytokinesis 6 | Soms (5–29%) | In 1 aandoening |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Soms (5–29%) | In 1 aandoening |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Soms (5–29%) | In 2 aandoeningen |
| DPYSL5dihydropyrimidinase like 5 | Soms (5–29%) | In 1 aandoening |
| ELP1elongator acetyltransferase complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| EMC1ER membrane protein complex subunit 1 | Soms (5–29%) | In 2 aandoeningen |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Soms (5–29%) | In 1 aandoening |
| FBXL4F-box and leucine rich repeat protein 4 | Soms (5–29%) | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Soms (5–29%) | In 2 aandoeningen |
| FHfumarate hydratase | Soms (5–29%) | In 2 aandoeningen |
| FRMPD4FERM and PDZ domain containing 4 | Soms (5–29%) | In 1 aandoening |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Soms (5–29%) | In 1 aandoening |
| GALCgalactosylceramidase | Soms (5–29%) | In 2 aandoeningen |
| GMPPAGDP-mannose pyrophosphorylase A | Soms (5–29%) | In 1 aandoening |
| GNA11G protein subunit alpha 11 | Soms (5–29%) | In 1 aandoening |
| GP1BBglycoprotein Ib platelet subunit beta | Soms (5–29%) | In 1 aandoening |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Soms (5–29%) | In 2 aandoeningen |
| HIRAhistone cell cycle regulator | Soms (5–29%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Soms (5–29%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Soms (5–29%) | In 1 aandoening |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Soms (5–29%) | In 2 aandoeningen |
| HSPG2heparan sulfate proteoglycan 2 | Soms (5–29%) | In 1 aandoening |
| IBA57iron-sulfur cluster assembly factor IBA57 | Soms (5–29%) | In 4 aandoeningen |
| IER3IP1immediate early response 3 interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| JMJD1Cjumonji domain containing 1C | Soms (5–29%) | In 1 aandoening |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Soms (5–29%) | In 1 aandoening |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Soms (5–29%) | In 2 aandoeningen |
| KIF11kinesin family member 11 | Soms (5–29%) | In 2 aandoeningen |
| KIF7kinesin family member 7 | Soms (5–29%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Soms (5–29%) | In 1 aandoening |
| LRP4LDL receptor related protein 4 | Soms (5–29%) | In 1 aandoening |
| LRP5LDL receptor related protein 5 | Soms (5–29%) | In 1 aandoening |
| LUZP1leucine zipper protein 1 | Soms (5–29%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Soms (5–29%) | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Soms (5–29%) | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Soms (5–29%) | In 1 aandoening |
| MGPmatrix Gla protein | Soms (5–29%) | In 1 aandoening |
| MICU1mitochondrial calcium uptake 1 | Soms (5–29%) | In 2 aandoeningen |
| MID2midline 2 | Soms (5–29%) | In 1 aandoening |
| MMP23Bmatrix metallopeptidase 23B | Soms (5–29%) | In 1 aandoening |
| MMUTmethylmalonyl-CoA mutase | Soms (5–29%) | In 2 aandoeningen |
| MOGSmannosyl-oligosaccharide glucosidase | Soms (5–29%) | In 2 aandoeningen |
| MPDU1mannose-P-dolichol utilization defect 1 | Soms (5–29%) | In 2 aandoeningen |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| MRPS34mitochondrial ribosomal protein S34 | Soms (5–29%) | In 1 aandoening |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Soms (5–29%) | In 1 aandoening |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Soms (5–29%) | In 1 aandoening |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Soms (5–29%) | In 1 aandoening |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Soms (5–29%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Soms (5–29%) | In 2 aandoeningen |
| MTORmechanistic target of rapamycin kinase | Soms (5–29%) | In 1 aandoening |
| MTSS2MTSS I-BAR domain containing 2 | Soms (5–29%) | In 1 aandoening |
| MYO5Amyosin VA | Soms (5–29%) | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Soms (5–29%) | In 2 aandoeningen |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Soms (5–29%) | In 1 aandoening |
| NEU1neuraminidase 1 | Soms (5–29%) | In 2 aandoeningen |
| NFIXnuclear factor I X | Soms (5–29%) | In 1 aandoening |
| NFU1NFU1 iron-sulfur cluster scaffold | Soms (5–29%) | In 1 aandoening |
| NLRP3NLR family pyrin domain containing 3 | Soms (5–29%) | In 1 aandoening |
| NOTCH2NLCnotch 2 N-terminal like C | Soms (5–29%) | In 1 aandoening |
| NRCAMneuronal cell adhesion molecule | Soms (5–29%) | In 1 aandoening |
| NT5C25'-nucleotidase, cytosolic II | Soms (5–29%) | In 2 aandoeningen |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| PCLOpiccolo presynaptic cytomatrix protein | Soms (5–29%) | In 1 aandoening |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Soms (5–29%) | In 1 aandoening |
| PDPNpodoplanin | Soms (5–29%) | In 1 aandoening |
| PI4KAphosphatidylinositol 4-kinase alpha | Soms (5–29%) | In 1 aandoening |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Soms (5–29%) | In 1 aandoening |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Soms (5–29%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Soms (5–29%) | In 2 aandoeningen |
| PMPCBpeptidase, mitochondrial processing subunit beta | Soms (5–29%) | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Soms (5–29%) | In 3 aandoeningen |
| PRDM16PR/SET domain 16 | Soms (5–29%) | In 1 aandoening |
| PRKCZprotein kinase C zeta | Soms (5–29%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Soms (5–29%) | In 1 aandoening |
| RAB11BRAB11B, member RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RBM10RNA binding motif protein 10 | Soms (5–29%) | In 2 aandoeningen |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 3 aandoeningen |
| RHOAras homolog family member A | Soms (5–29%) | In 1 aandoening |
| RNU7-1RNA, U7 small nuclear 1 | Soms (5–29%) | In 1 aandoening |
| RPS6KA3ribosomal protein S6 kinase A3 | Soms (5–29%) | In 1 aandoening |
| RREB1ras responsive element binding protein 1 | Soms (5–29%) | In 1 aandoening |
| RRM1ribonucleotide reductase catalytic subunit M1 | Soms (5–29%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Soms (5–29%) | In 1 aandoening |
| SARDHsarcosine dehydrogenase | Soms (5–29%) | In 1 aandoening |
| SBF2SET binding factor 2 | Soms (5–29%) | In 1 aandoening |
| SEC23ASEC23 homolog A, COPII component | Soms (5–29%) | In 1 aandoening |
| SEC24CSEC24 homolog C, COPII component | Soms (5–29%) | In 1 aandoening |
| SELENOIselenoprotein I | Soms (5–29%) | In 1 aandoening |
| SERAC1serine active site containing 1 | Soms (5–29%) | In 2 aandoeningen |
| SH3BP2SH3 domain binding protein 2 | Soms (5–29%) | In 1 aandoening |
| SIL1SIL1 nucleotide exchange factor | Soms (5–29%) | In 1 aandoening |
| SKISKI proto-oncogene | Soms (5–29%) | In 1 aandoening |
| SLC52A2solute carrier family 52 member 2 | Soms (5–29%) | In 1 aandoening |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Soms (5–29%) | In 1 aandoening |
| SONSON DNA and RNA binding protein | Soms (5–29%) | In 2 aandoeningen |
| SP7Sp7 transcription factor | Soms (5–29%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| TANGO2transport and golgi organization 2 homolog | Soms (5–29%) | In 2 aandoeningen |
| TBC1D24TBC1 domain family member 24 | Soms (5–29%) | In 4 aandoeningen |
| TBX1T-box transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| TGFB1transforming growth factor beta 1 | Soms (5–29%) | In 1 aandoening |
| TK2thymidine kinase 2 | Soms (5–29%) | In 1 aandoening |
| TMEM222transmembrane protein 222 | Soms (5–29%) | In 1 aandoening |
| TMEM53transmembrane protein 53 | Soms (5–29%) | In 1 aandoening |
| TMEM63Atransmembrane protein 63A | Soms (5–29%) | In 1 aandoening |
| TOP3ADNA topoisomerase III alpha | Soms (5–29%) | In 1 aandoening |
| TRAF7TNF receptor associated factor 7 | Soms (5–29%) | In 1 aandoening |
| TRAPPC11trafficking protein particle complex subunit 11 | Soms (5–29%) | In 1 aandoening |
| TSC1TSC complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| TSC2TSC complex subunit 2 | Soms (5–29%) | In 1 aandoening |
| TUBGCP2tubulin gamma complex component 2 | Soms (5–29%) | In 1 aandoening |
| TWIST1twist family bHLH transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| UBE4Bubiquitination factor E4B | Soms (5–29%) | In 1 aandoening |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Soms (5–29%) | In 1 aandoening |
| VPS13Bvacuolar protein sorting 13 homolog B | Soms (5–29%) | In 2 aandoeningen |
| VPS35LVPS35 endosomal protein sorting factor like | Soms (5–29%) | In 1 aandoening |
| WASHC5WASH complex subunit 5 | Soms (5–29%) | In 1 aandoening |
| WDR45WD repeat domain 45 | Soms (5–29%) | In 1 aandoening |
| WWOXWW domain containing oxidoreductase | Soms (5–29%) | In 2 aandoeningen |
| YAP1Yes1 associated transcriptional regulator | Soms (5–29%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Soms (5–29%) | In 1 aandoening |
| ZFXzinc finger protein X-linked | Soms (5–29%) | In 1 aandoening |
| ZPR1ZPR1 zinc finger | Soms (5–29%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Zelden (1–4%) | In 1 aandoening |
| ACADSacyl-CoA dehydrogenase short chain | Zelden (1–4%) | In 1 aandoening |
| ACTL6Bactin like 6B | Zelden (1–4%) | In 1 aandoening |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Zelden (1–4%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Zelden (1–4%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Zelden (1–4%) | In 1 aandoening |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Zelden (1–4%) | In 1 aandoening |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Zelden (1–4%) | In 1 aandoening |
| CDK19cyclin dependent kinase 19 | Zelden (1–4%) | In 1 aandoening |
| CELF2CUGBP Elav-like family member 2 | Zelden (1–4%) | In 1 aandoening |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Zelden (1–4%) | In 1 aandoening |
| CLTCclathrin heavy chain | Zelden (1–4%) | In 1 aandoening |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Zelden (1–4%) | In 1 aandoening |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Zelden (1–4%) | In 1 aandoening |
| DALRD3DALR anticodon binding domain containing 3 | Zelden (1–4%) | In 1 aandoening |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Zelden (1–4%) | In 1 aandoening |
| DENND5ADENN domain containing 5A | Zelden (1–4%) | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Zelden (1–4%) | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Zelden (1–4%) | In 1 aandoening |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Zelden (1–4%) | In 1 aandoening |
| FBXO28F-box protein 28 | Zelden (1–4%) | In 1 aandoening |
| FDX2ferredoxin 2 | Zelden (1–4%) | In 1 aandoening |
| FGF12fibroblast growth factor 12 | Zelden (1–4%) | In 1 aandoening |
| FOXG1forkhead box G1 | Zelden (1–4%) | In 1 aandoening |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Zelden (1–4%) | In 1 aandoening |
| FZR1fizzy and cell division cycle 20 related 1 | Zelden (1–4%) | In 1 aandoening |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Zelden (1–4%) | In 1 aandoening |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Zelden (1–4%) | In 1 aandoening |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Zelden (1–4%) | In 1 aandoening |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Zelden (1–4%) | In 1 aandoening |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Zelden (1–4%) | In 1 aandoening |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Zelden (1–4%) | In 1 aandoening |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Zelden (1–4%) | In 1 aandoening |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Zelden (1–4%) | In 1 aandoening |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Zelden (1–4%) | In 1 aandoening |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Zelden (1–4%) | In 1 aandoening |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Zelden (1–4%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Zelden (1–4%) | In 1 aandoening |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Zelden (1–4%) | In 1 aandoening |
| MTHFRmethylenetetrahydrofolate reductase | Zelden (1–4%) | In 1 aandoening |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Zelden (1–4%) | In 1 aandoening |
| NECAP1NECAP endocytosis associated 1 | Zelden (1–4%) | In 1 aandoening |
| NGLY1N-glycanase 1 | Zelden (1–4%) | In 1 aandoening |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Zelden (1–4%) | In 1 aandoening |
| PACS2phosphofurin acidic cluster sorting protein 2 | Zelden (1–4%) | In 1 aandoening |
| PANK2pantothenate kinase 2 | Zelden (1–4%) | In 2 aandoeningen |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Zelden (1–4%) | In 2 aandoeningen |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Zelden (1–4%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Zelden (1–4%) | In 1 aandoening |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Zelden (1–4%) | In 1 aandoening |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Zelden (1–4%) | In 1 aandoening |
| SCYL1SCY1 like pseudokinase 1 | Zelden (1–4%) | In 1 aandoening |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Zelden (1–4%) | In 1 aandoening |
| SLC13A5solute carrier family 13 member 5 | Zelden (1–4%) | In 1 aandoening |
| SLC1A2solute carrier family 1 member 2 | Zelden (1–4%) | In 1 aandoening |
| SLC38A3solute carrier family 38 member 3 | Zelden (1–4%) | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Zelden (1–4%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Zelden (1–4%) | In 1 aandoening |
| SZT2SZT2 subunit of KICSTOR complex | Zelden (1–4%) | In 1 aandoening |
| TRAK1trafficking kinesin protein 1 | Zelden (1–4%) | In 1 aandoening |
| UBA5ubiquitin like modifier activating enzyme 5 | Zelden (1–4%) | In 1 aandoening |
| UFSP2UFM1 specific peptidase 2 | Zelden (1–4%) | In 1 aandoening |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Zelden (1–4%) | In 1 aandoening |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Niet vastgelegd | In 1 aandoening |
| AGXTalanine--glyoxylate aminotransferase | Niet vastgelegd | In 1 aandoening |
| ARXaristaless related homeobox | Niet vastgelegd | In 1 aandoening |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Niet vastgelegd | In 1 aandoening |
| CTC1CST telomere replication complex component 1 | Niet vastgelegd | In 1 aandoening |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Niet vastgelegd | In 1 aandoening |
| DKC1dyskerin pseudouridine synthase 1 | Niet vastgelegd | In 1 aandoening |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Niet vastgelegd | In 1 aandoening |
| GJC2gap junction protein gamma 2 | Niet vastgelegd | In 1 aandoening |
| GLB1galactosidase beta 1 | Niet vastgelegd | In 1 aandoening |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Niet vastgelegd | In 1 aandoening |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Niet vastgelegd | In 1 aandoening |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Niet vastgelegd | In 1 aandoening |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Niet vastgelegd | In 1 aandoening |
| MAGmyelin associated glycoprotein | Niet vastgelegd | In 1 aandoening |
| MCOLN1mucolipin TRP cation channel 1 | Niet vastgelegd | In 1 aandoening |
| MFSD8major facilitator superfamily domain containing 8 | Niet vastgelegd | In 1 aandoening |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Niet vastgelegd | In 1 aandoening |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Niet vastgelegd | In 1 aandoening |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Niet vastgelegd | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Niet vastgelegd | In 1 aandoening |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| PCK1phosphoenolpyruvate carboxykinase 1 | Niet vastgelegd | In 1 aandoening |
| PDHXpyruvate dehydrogenase complex component X | Niet vastgelegd | In 1 aandoening |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Niet vastgelegd | In 1 aandoening |
| PORCNporcupine O-acyltransferase | Niet vastgelegd | In 1 aandoening |
| PPT1palmitoyl-protein thioesterase 1 | Niet vastgelegd | In 1 aandoening |
| PRICKLE3prickle planar cell polarity protein 3 | Niet vastgelegd | In 1 aandoening |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Niet vastgelegd | In 1 aandoening |
| RAB23RAB23, member RAS oncogene family | Niet vastgelegd | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Niet vastgelegd | In 1 aandoening |
| RPIAribose 5-phosphate isomerase A | Niet vastgelegd | In 1 aandoening |
| SLC39A14solute carrier family 39 member 14 | Niet vastgelegd | In 1 aandoening |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Niet vastgelegd | In 1 aandoening |
| TBC1D7TBC1 domain family member 7 | Niet vastgelegd | In 1 aandoening |
| TMEM126Atransmembrane protein 126A | Niet vastgelegd | In 1 aandoening |
| TNFSF11TNF superfamily member 11 | Niet vastgelegd | In 1 aandoening |
| TSFMTs translation elongation factor, mitochondrial | Niet vastgelegd | In 1 aandoening |
| TUBB4Atubulin beta 4A class IVa | Niet vastgelegd | In 1 aandoening |
| TXN2thioredoxin 2 | Niet vastgelegd | In 1 aandoening |
| VCANversican | Niet vastgelegd | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | 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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