Kenmerk
Cognitive impairment
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
Samenvatting
- Ook bekend als
- Abnormality of cognition, Cognitive abnormality, Cognitive defects, Cognitive deficits, Intellectual impairment
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Cognitive impairment 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Altijd | In 2 aandoeningen |
| COA3cytochrome c oxidase assembly factor 3 | Altijd | In 1 aandoening |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altijd | In 1 aandoening |
| GBE11,4-alpha-glucan branching enzyme 1 | Altijd | In 1 aandoening |
| KARS1lysyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| LZTFL1leucine zipper transcription factor like 1 | Altijd | In 2 aandoeningen |
| NIT1nitrilase 1 | Altijd | In 1 aandoening |
| NOTCH3notch receptor 3 | Altijd | In 2 aandoeningen |
| NSD1nuclear receptor binding SET domain protein 1 | Altijd | In 1 aandoening |
| PLAAphospholipase A2 activating protein | Altijd | In 1 aandoening |
| SQSTM1sequestosome 1 | Altijd | In 2 aandoeningen |
| ATP13A2ATPase cation transporting 13A2 | Heel vaak (80–99%) | In 3 aandoeningen |
| ATRATR checkpoint kinase | Heel vaak (80–99%) | In 1 aandoening |
| ATRIPATR interacting protein | Heel vaak (80–99%) | In 1 aandoening |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| BRPF1bromodomain and PHD finger containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Heel vaak (80–99%) | In 1 aandoening |
| CENPEcentromere protein E | Heel vaak (80–99%) | In 1 aandoening |
| CEP152centrosomal protein 152 | Heel vaak (80–99%) | In 1 aandoening |
| CEP295centrosomal protein 295 | Heel vaak (80–99%) | In 1 aandoening |
| CEP63centrosomal protein 63 | Heel vaak (80–99%) | In 1 aandoening |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Heel vaak (80–99%) | In 2 aandoeningen |
| COASYCoenzyme A synthase | Heel vaak (80–99%) | In 1 aandoening |
| CPAPcentrosome assembly and centriole elongation protein | Heel vaak (80–99%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Heel vaak (80–99%) | In 1 aandoening |
| DCXdoublecortin | Heel vaak (80–99%) | In 1 aandoening |
| DDB2damage specific DNA binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| DMDdystrophin | Heel vaak (80–99%) | In 1 aandoening |
| DNA2DNA replication helicase/nuclease 2 | Heel vaak (80–99%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC5ERCC excision repair 5, endonuclease | Heel vaak (80–99%) | In 1 aandoening |
| FASFas cell surface death receptor | Heel vaak (80–99%) | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Heel vaak (80–99%) | In 1 aandoening |
| FKRPfukutin related protein | Heel vaak (80–99%) | In 1 aandoening |
| FKTNfukutin | Heel vaak (80–99%) | In 1 aandoening |
| FTLferritin light chain | Heel vaak (80–99%) | In 1 aandoening |
| GATMglycine amidinotransferase | Heel vaak (80–99%) | In 1 aandoening |
| GM2Aganglioside GM2 activator | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 367 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| GMPPBGDP-mannose pyrophosphorylase B | Heel vaak (80–99%) | In 2 aandoeningen |
| GON7GON7 subunit of KEOPS complex | Heel vaak (80–99%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Heel vaak (80–99%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Heel vaak (80–99%) | In 1 aandoening |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| LAGE3L antigen family member 3 | Heel vaak (80–99%) | In 1 aandoening |
| LAMA1laminin subunit alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| LTBP4latent transforming growth factor beta binding protein 4 | Heel vaak (80–99%) | In 1 aandoening |
| MAOAmonoamine oxidase A | Heel vaak (80–99%) | In 1 aandoening |
| NINninein | Heel vaak (80–99%) | In 1 aandoening |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Heel vaak (80–99%) | In 1 aandoening |
| NUP107nucleoporin 107 | Heel vaak (80–99%) | In 1 aandoening |
| NUP133nucleoporin 133 | Heel vaak (80–99%) | In 1 aandoening |
| NUP85nucleoporin 85 | Heel vaak (80–99%) | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Heel vaak (80–99%) | In 1 aandoening |
| PCNTpericentrin | Heel vaak (80–99%) | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| PEX10peroxisomal biogenesis factor 10 | Heel vaak (80–99%) | In 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | Heel vaak (80–99%) | In 1 aandoening |
| PEX12peroxisomal biogenesis factor 12 | Heel vaak (80–99%) | In 1 aandoening |
| PEX13peroxisomal biogenesis factor 13 | Heel vaak (80–99%) | In 1 aandoening |
| PEX14peroxisomal biogenesis factor 14 | Heel vaak (80–99%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Heel vaak (80–99%) | In 1 aandoening |
| PEX19peroxisomal biogenesis factor 19 | Heel vaak (80–99%) | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| PEX26peroxisomal biogenesis factor 26 | Heel vaak (80–99%) | In 1 aandoening |
| PEX3peroxisomal biogenesis factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Heel vaak (80–99%) | In 1 aandoening |
| PEX6peroxisomal biogenesis factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Heel vaak (80–99%) | In 1 aandoening |
| PLCB1phospholipase C beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| PLK4polo like kinase 4 | Heel vaak (80–99%) | In 1 aandoening |
| PLP1proteolipid protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Heel vaak (80–99%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PRNPprion protein (Kanno blood group) | Heel vaak (80–99%) | In 4 aandoeningen |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Heel vaak (80–99%) | In 1 aandoening |
| RBBP8RB binding protein 8, endonuclease | Heel vaak (80–99%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| SETD5SET domain containing 5 | Heel vaak (80–99%) | In 1 aandoening |
| SIM1SIM bHLH transcription factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| SLC12A5solute carrier family 12 member 5 | Heel vaak (80–99%) | In 1 aandoening |
| SLC18A2solute carrier family 18 member A2 | Heel vaak (80–99%) | In 1 aandoening |
| SLC25A15solute carrier family 25 member 15 | Heel vaak (80–99%) | In 1 aandoening |
| SLC25A22solute carrier family 25 member 22 | Heel vaak (80–99%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Heel vaak (80–99%) | In 1 aandoening |
| TP53RKTP53 regulating kinase | Heel vaak (80–99%) | In 1 aandoening |
| TPRKBTP53RK binding protein | Heel vaak (80–99%) | In 1 aandoening |
| TRAIPTRAF interacting protein | Heel vaak (80–99%) | In 1 aandoening |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| TUBB2Btubulin beta 2B class IIb | Heel vaak (80–99%) | In 1 aandoening |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| WDR73WD repeat domain 73 | Heel vaak (80–99%) | In 1 aandoening |
| 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 |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Heel vaak (80–99%) | In 1 aandoening |
| ADA2adenosine deaminase 2 | Vaak (30–79%) | In 1 aandoening |
| ADAMTSL4ADAMTS like 4 | Vaak (30–79%) | In 1 aandoening |
| ANGangiogenin | Vaak (30–79%) | In 1 aandoening |
| ANXA11annexin A11 | Vaak (30–79%) | In 2 aandoeningen |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Vaak (30–79%) | In 1 aandoening |
| ARL6ARF like GTPase 6 | Vaak (30–79%) | In 1 aandoening |
| ATN1atrophin 1 | Vaak (30–79%) | In 1 aandoening |
| ATXN1ataxin 1 | Vaak (30–79%) | In 2 aandoeningen |
| ATXN2ataxin 2 | Vaak (30–79%) | In 1 aandoening |
| BBIP1BBSome interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Vaak (30–79%) | In 1 aandoening |
| BBS10Bardet-Biedl syndrome 10 | Vaak (30–79%) | In 1 aandoening |
| BBS12Bardet-Biedl syndrome 12 | Vaak (30–79%) | In 2 aandoeningen |
| BBS2Bardet-Biedl syndrome 2 | Vaak (30–79%) | In 1 aandoening |
| BBS4Bardet-Biedl syndrome 4 | Vaak (30–79%) | In 1 aandoening |
| BBS5Bardet-Biedl syndrome 5 | Vaak (30–79%) | In 1 aandoening |
| BBS7Bardet-Biedl syndrome 7 | Vaak (30–79%) | In 1 aandoening |
| BBS9Bardet-Biedl syndrome 9 | Vaak (30–79%) | In 1 aandoening |
| CACHD1cache domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| CCNFcyclin F | Vaak (30–79%) | In 1 aandoening |
| CEP19centrosomal protein 19 | Vaak (30–79%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Vaak (30–79%) | In 1 aandoening |
| CFAP410cilia and flagella associated protein 410 | Vaak (30–79%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Vaak (30–79%) | In 1 aandoening |
| CHMP2Bcharged multivesicular body protein 2B | Vaak (30–79%) | In 1 aandoening |
| CLCF1cardiotrophin like cytokine factor 1 | Vaak (30–79%) | In 1 aandoening |
| CLMPCXADR like cell adhesion molecule | Vaak (30–79%) | In 1 aandoening |
| CLN8CLN8 transmembrane ER and ERGIC protein | Vaak (30–79%) | In 1 aandoening |
| CMPK2cytidine/uridine monophosphate kinase 2 | Vaak (30–79%) | In 1 aandoening |
| COL4A1collagen type IV alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| CPceruloplasmin | Vaak (30–79%) | In 1 aandoening |
| CRLF1cytokine receptor like factor 1 | Vaak (30–79%) | In 1 aandoening |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Vaak (30–79%) | In 1 aandoening |
| DAOD-amino acid oxidase | Vaak (30–79%) | In 1 aandoening |
| DCCDCC netrin 1 receptor | Vaak (30–79%) | In 1 aandoening |
| DCTN1dynactin subunit 1 | Vaak (30–79%) | In 1 aandoening |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Vaak (30–79%) | In 1 aandoening |
| FA2Hfatty acid 2-hydroxylase | Vaak (30–79%) | In 1 aandoening |
| FBN1fibrillin 1 | Vaak (30–79%) | In 1 aandoening |
| FBXO7F-box protein 7 | Vaak (30–79%) | In 1 aandoening |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 1 aandoening |
| FLNAfilamin A | Vaak (30–79%) | In 1 aandoening |
| FUSFUS RNA binding protein | Vaak (30–79%) | In 2 aandoeningen |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Vaak (30–79%) | In 1 aandoening |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Vaak (30–79%) | In 2 aandoeningen |
| GBA2glucosylceramidase beta 2 | Vaak (30–79%) | In 1 aandoening |
| GDF5growth differentiation factor 5 | Vaak (30–79%) | In 1 aandoening |
| GJB2gap junction protein beta 2 | Vaak (30–79%) | In 1 aandoening |
| GJC2gap junction protein gamma 2 | Vaak (30–79%) | In 2 aandoeningen |
| GLAgalactosidase alpha | Vaak (30–79%) | In 1 aandoening |
| GLE1GLE1 RNA export mediator | Vaak (30–79%) | In 1 aandoening |
| GLT8D1glycosyltransferase 8 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Vaak (30–79%) | In 2 aandoeningen |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Vaak (30–79%) | In 1 aandoening |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Vaak (30–79%) | In 1 aandoening |
| HEXBhexosaminidase subunit beta | Vaak (30–79%) | In 1 aandoening |
| HMBShydroxymethylbilane synthase | Vaak (30–79%) | In 1 aandoening |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Vaak (30–79%) | In 1 aandoening |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Vaak (30–79%) | In 1 aandoening |
| HTRA1HtrA serine peptidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| IFT172intraflagellar transport 172 | Vaak (30–79%) | In 1 aandoening |
| IFT27intraflagellar transport 27 | Vaak (30–79%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Vaak (30–79%) | In 1 aandoening |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Vaak (30–79%) | In 1 aandoening |
| L1CAML1 cell adhesion molecule | Vaak (30–79%) | In 1 aandoening |
| LRP12LDL receptor related protein 12 | Vaak (30–79%) | In 1 aandoening |
| MAGEL2MAGE family member L2 | Vaak (30–79%) | In 1 aandoening |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| MATR3matrin 3 | Vaak (30–79%) | In 1 aandoening |
| MKKSMKKS centrosomal shuttling protein | Vaak (30–79%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Vaak (30–79%) | In 1 aandoening |
| MT-RNR1mitochondrially encoded 12S rRNA | Vaak (30–79%) | In 1 aandoening |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Vaak (30–79%) | In 1 aandoening |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Vaak (30–79%) | In 1 aandoening |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Vaak (30–79%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Vaak (30–79%) | In 2 aandoeningen |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Vaak (30–79%) | In 1 aandoening |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Vaak (30–79%) | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Vaak (30–79%) | In 1 aandoening |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Vaak (30–79%) | In 1 aandoening |
| MTRFRmitochondrial translation release factor in rescue | Vaak (30–79%) | In 3 aandoeningen |
| NEFHneurofilament heavy chain | Vaak (30–79%) | In 1 aandoening |
| NEK1NIMA related kinase 1 | Vaak (30–79%) | In 1 aandoening |
| NOTCH2NLCnotch 2 N-terminal like C | Vaak (30–79%) | In 1 aandoening |
| NPHP1nephrocystin 1 | Vaak (30–79%) | In 1 aandoening |
| OPTNoptineurin | Vaak (30–79%) | In 1 aandoening |
| PANK2pantothenate kinase 2 | Vaak (30–79%) | In 2 aandoeningen |
| PCDH19protocadherin 19 | Vaak (30–79%) | In 1 aandoening |
| PFN1profilin 1 | Vaak (30–79%) | In 1 aandoening |
| PI4KAphosphatidylinositol 4-kinase alpha | Vaak (30–79%) | In 1 aandoening |
| PMPCApeptidase, mitochondrial processing subunit alpha | Vaak (30–79%) | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Vaak (30–79%) | In 2 aandoeningen |
| POLGDNA polymerase gamma, catalytic subunit | Vaak (30–79%) | In 5 aandoeningen |
| PORCNporcupine O-acyltransferase | Vaak (30–79%) | In 1 aandoening |
| PRPHperipherin | Vaak (30–79%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Vaak (30–79%) | In 1 aandoening |
| RAB32RAB32, member RAS oncogene family | Vaak (30–79%) | In 1 aandoening |
| RAI1retinoic acid induced 1 | Vaak (30–79%) | In 1 aandoening |
| RIN2Ras and Rab interactor 2 | Vaak (30–79%) | In 1 aandoening |
| ROBO3roundabout guidance receptor 3 | Vaak (30–79%) | In 1 aandoening |
| SCAPERS-phase cyclin A associated protein in the ER | Vaak (30–79%) | In 1 aandoening |
| SCLT1sodium channel and clathrin linker 1 | Vaak (30–79%) | In 1 aandoening |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Vaak (30–79%) | In 2 aandoeningen |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Vaak (30–79%) | In 2 aandoeningen |
| SLC7A7solute carrier family 7 member 7 | Vaak (30–79%) | In 1 aandoening |
| SNCAsynuclein alpha | Vaak (30–79%) | In 2 aandoeningen |
| SNORD118small nucleolar RNA, C/D box 118 | Vaak (30–79%) | In 1 aandoening |
| SOD1superoxide dismutase 1 | Vaak (30–79%) | In 1 aandoening |
| SPARTspartin | Vaak (30–79%) | In 1 aandoening |
| SPRsepiapterin reductase | Vaak (30–79%) | In 1 aandoening |
| STUB1STIP1 homology and U-box containing protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| TAF15TATA-box binding protein associated factor 15 | Vaak (30–79%) | In 1 aandoening |
| TARDBPTAR DNA binding protein | Vaak (30–79%) | In 2 aandoeningen |
| TBK1TANK binding kinase 1 | Vaak (30–79%) | In 1 aandoening |
| TMEM240transmembrane protein 240 | Vaak (30–79%) | In 2 aandoeningen |
| TREM2triggering receptor expressed on myeloid cells 2 | Vaak (30–79%) | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Vaak (30–79%) | In 1 aandoening |
| TRIM32tripartite motif containing 32 | Vaak (30–79%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Vaak (30–79%) | In 1 aandoening |
| UBQLN2ubiquilin 2 | Vaak (30–79%) | In 2 aandoeningen |
| UNC13Aunc-13 homolog A | Vaak (30–79%) | In 1 aandoening |
| VAPBVAMP associated protein B and C | Vaak (30–79%) | In 1 aandoening |
| VCPvalosin containing protein | Vaak (30–79%) | In 1 aandoening |
| WDPCPWD repeat containing planar cell polarity effector | Vaak (30–79%) | In 1 aandoening |
| ZFYVE26zinc finger FYVE-type containing 26 | Vaak (30–79%) | In 1 aandoening |
| AASSaminoadipate-semialdehyde synthase | Soms (5–29%) | In 2 aandoeningen |
| ABCA5ATP binding cassette subfamily A member 5 | Soms (5–29%) | In 1 aandoening |
| ABCD1ATP binding cassette subfamily D member 1 | Soms (5–29%) | In 1 aandoening |
| ADGRV1adhesion G protein-coupled receptor V1 | Soms (5–29%) | In 1 aandoening |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Soms (5–29%) | In 2 aandoeningen |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Soms (5–29%) | In 1 aandoening |
| AKT1AKT serine/threonine kinase 1 | Soms (5–29%) | In 1 aandoening |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Soms (5–29%) | In 1 aandoening |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Soms (5–29%) | In 1 aandoening |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Soms (5–29%) | In 1 aandoening |
| ATMATM serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| BAP1BRCA1 associated deubiquitinase 1 | Soms (5–29%) | In 1 aandoening |
| BDNFbrain derived neurotrophic factor | Soms (5–29%) | In 1 aandoening |
| CABP4calcium binding protein 4 | Soms (5–29%) | In 1 aandoening |
| CCM2CCM2 scaffold protein | Soms (5–29%) | In 1 aandoening |
| CHRM3cholinergic receptor muscarinic 3 | Soms (5–29%) | In 1 aandoening |
| CHRNA2cholinergic receptor nicotinic alpha 2 subunit | Soms (5–29%) | In 1 aandoening |
| CHRNA4cholinergic receptor nicotinic alpha 4 subunit | Soms (5–29%) | In 1 aandoening |
| CHRNB2cholinergic receptor nicotinic beta 2 subunit | Soms (5–29%) | In 1 aandoening |
| CHRNGcholinergic receptor nicotinic gamma subunit | Soms (5–29%) | In 1 aandoening |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Soms (5–29%) | In 1 aandoening |
| COQ2coenzyme Q2, polyprenyltransferase | Soms (5–29%) | In 1 aandoening |
| COQ4coenzyme Q4 | Soms (5–29%) | In 1 aandoening |
| CPA6carboxypeptidase A6 | Soms (5–29%) | In 1 aandoening |
| CRHcorticotropin releasing hormone | Soms (5–29%) | In 1 aandoening |
| CSF1Rcolony stimulating factor 1 receptor | Soms (5–29%) | In 1 aandoening |
| CTNScystinosin, lysosomal cystine transporter | Soms (5–29%) | In 1 aandoening |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Soms (5–29%) | In 2 aandoeningen |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Soms (5–29%) | In 1 aandoening |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Soms (5–29%) | In 2 aandoeningen |
| DGUOKdeoxyguanosine kinase | Soms (5–29%) | In 1 aandoening |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Soms (5–29%) | In 1 aandoening |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Soms (5–29%) | In 2 aandoeningen |
| DSG4desmoglein 4 | Soms (5–29%) | In 1 aandoening |
| EDN3endothelin 3 | Soms (5–29%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Soms (5–29%) | In 1 aandoening |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Soms (5–29%) | In 1 aandoening |
| ERLIN1ER lipid raft associated 1 | Soms (5–29%) | In 1 aandoening |
| FGF13fibroblast growth factor 13 | Soms (5–29%) | In 1 aandoening |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Soms (5–29%) | In 1 aandoening |
| GCDHglutaryl-CoA dehydrogenase | Soms (5–29%) | In 1 aandoening |
| GDF3growth differentiation factor 3 | Soms (5–29%) | In 1 aandoening |
| GDF6growth differentiation factor 6 | Soms (5–29%) | In 1 aandoening |
| GDNFglial cell derived neurotrophic factor | Soms (5–29%) | In 1 aandoening |
| GNA11G protein subunit alpha 11 | Soms (5–29%) | In 1 aandoening |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Soms (5–29%) | In 1 aandoening |
| GPC4glypican 4 | Soms (5–29%) | In 1 aandoening |
| GTPBP3GTP binding protein 3, mitochondrial | Soms (5–29%) | In 1 aandoening |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Soms (5–29%) | In 1 aandoening |
| HTRA2HtrA serine peptidase 2 | Soms (5–29%) | In 1 aandoening |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Soms (5–29%) | In 1 aandoening |
| KCND3potassium voltage-gated channel subfamily D member 3 | Soms (5–29%) | In 1 aandoening |
| KMT2Blysine methyltransferase 2B | Soms (5–29%) | In 1 aandoening |
| KRIT1KRIT1 ankyrin repeat containing | Soms (5–29%) | In 1 aandoening |
| KRT81keratin 81 | Soms (5–29%) | In 1 aandoening |
| KRT83keratin 83 | Soms (5–29%) | In 1 aandoening |
| KRT86keratin 86 | Soms (5–29%) | In 1 aandoening |
| LAMA2laminin subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| LBX1ladybird homeobox 1 | Soms (5–29%) | In 1 aandoening |
| LMNB1lamin B1 | Soms (5–29%) | In 1 aandoening |
| LRRK2leucine rich repeat kinase 2 | Soms (5–29%) | In 1 aandoening |
| LYSTlysosomal trafficking regulator | Soms (5–29%) | In 1 aandoening |
| MEOX1mesenchyme homeobox 1 | Soms (5–29%) | In 1 aandoening |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Soms (5–29%) | In 1 aandoening |
| MTHFRmethylenetetrahydrofolate reductase | Soms (5–29%) | In 1 aandoening |
| MYH3myosin heavy chain 3 | Soms (5–29%) | In 1 aandoening |
| MYO1Hmyosin IH | Soms (5–29%) | In 1 aandoening |
| NAGSN-acetylglutamate synthase | Soms (5–29%) | In 2 aandoeningen |
| NEFLneurofilament light chain | Soms (5–29%) | In 1 aandoening |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Soms (5–29%) | In 1 aandoening |
| NKX6-2NK6 homeobox 2 | Soms (5–29%) | In 1 aandoening |
| NPRL2NPR2 like, GATOR1 complex subunit | Soms (5–29%) | In 1 aandoening |
| NPRL3NPR3 like, GATOR1 complex subunit | Soms (5–29%) | In 1 aandoening |
| PARK7Parkinsonism associated deglycase | Soms (5–29%) | In 1 aandoening |
| PDCD10programmed cell death 10 | Soms (5–29%) | In 1 aandoening |
| PDGFBplatelet derived growth factor subunit B | Soms (5–29%) | In 2 aandoeningen |
| PHOX2Bpaired like homeobox 2B | Soms (5–29%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Soms (5–29%) | In 2 aandoeningen |
| PINK1PTEN induced kinase 1 | Soms (5–29%) | In 1 aandoening |
| PODXLpodocalyxin like | Soms (5–29%) | In 1 aandoening |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Soms (5–29%) | In 1 aandoening |
| PRKCGprotein kinase C gamma | Soms (5–29%) | In 1 aandoening |
| PRKNparkin RBR E3 ubiquitin protein ligase | Soms (5–29%) | In 1 aandoening |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Soms (5–29%) | In 1 aandoening |
| PRRT2proline rich transmembrane protein 2 | Soms (5–29%) | In 1 aandoening |
| RAB3ARAB3A, member RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RBM12RNA binding motif protein 12 | Soms (5–29%) | In 1 aandoening |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Soms (5–29%) | In 1 aandoening |
| RNASEH1ribonuclease H1 | Soms (5–29%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Soms (5–29%) | In 2 aandoeningen |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Soms (5–29%) | In 1 aandoening |
| SIGMAR1sigma receptor chaperone 1 | Soms (5–29%) | In 1 aandoening |
| SLC32A1solute carrier family 32 member 1 | Soms (5–29%) | In 1 aandoening |
| SLC37A4solute carrier family 37 member 4 | Soms (5–29%) | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Soms (5–29%) | In 1 aandoening |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Soms (5–29%) | In 1 aandoening |
| SMOsmoothened, frizzled class receptor | Soms (5–29%) | In 1 aandoening |
| SORDsorbitol dehydrogenase | Soms (5–29%) | In 1 aandoening |
| SPASTspastin | Soms (5–29%) | In 1 aandoening |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Soms (5–29%) | In 1 aandoening |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Soms (5–29%) | In 2 aandoeningen |
| SPTBN1spectrin beta, non-erythrocytic 1 | Soms (5–29%) | In 1 aandoening |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Soms (5–29%) | In 1 aandoening |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Soms (5–29%) | In 1 aandoening |
| STARD7StAR related lipid transfer domain containing 7 | Soms (5–29%) | In 1 aandoening |
| STX1Bsyntaxin 1B | Soms (5–29%) | In 1 aandoening |
| SUFUSUFU negative regulator of hedgehog signaling | Soms (5–29%) | In 1 aandoening |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Soms (5–29%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Soms (5–29%) | In 1 aandoening |
| TBCKTBC1 domain containing kinase | Soms (5–29%) | In 1 aandoening |
| TERTtelomerase reverse transcriptase | Soms (5–29%) | In 1 aandoening |
| THAP11THAP domain containing 11 | Soms (5–29%) | In 1 aandoening |
| TP53tumor protein p53 | Soms (5–29%) | In 1 aandoening |
| TRAF7TNF receptor associated factor 7 | Soms (5–29%) | In 1 aandoening |
| TRMT2BtRNA methyltransferase 2B | Soms (5–29%) | In 1 aandoening |
| TSC1TSC complex subunit 1 | Soms (5–29%) | In 2 aandoeningen |
| TSC2TSC complex subunit 2 | Soms (5–29%) | In 2 aandoeningen |
| TWNKtwinkle mtDNA helicase | Soms (5–29%) | In 3 aandoeningen |
| UCHL1ubiquitin C-terminal hydrolase L1 | Soms (5–29%) | In 1 aandoening |
| VPS13Cvacuolar protein sorting 13 homolog C | Soms (5–29%) | In 1 aandoening |
| ALMS1ALMS1 centrosome and basal body associated protein | Zelden (1–4%) | In 1 aandoening |
| ARMC5armadillo repeat containing 5 | Zelden (1–4%) | In 1 aandoening |
| DNM1Ldynamin 1L | Zelden (1–4%) | In 1 aandoening |
| DZIP1LDAZ interacting zinc finger protein 1 like | Zelden (1–4%) | In 1 aandoening |
| GNASGNAS complex locus | Zelden (1–4%) | In 4 aandoeningen |
| IRAK1interleukin 1 receptor associated kinase 1 | Zelden (1–4%) | In 1 aandoening |
| KDM1Alysine demethylase 1A | Zelden (1–4%) | In 1 aandoening |
| KIF5Akinesin family member 5A | Zelden (1–4%) | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Zelden (1–4%) | In 1 aandoening |
| PABPN1poly(A) binding protein nuclear 1 | Zelden (1–4%) | In 1 aandoening |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Zelden (1–4%) | In 1 aandoening |
| POLG2DNA polymerase gamma 2, accessory subunit | Zelden (1–4%) | In 1 aandoening |
| PPIBpeptidylprolyl isomerase B | Zelden (1–4%) | In 1 aandoening |
| RRM1ribonucleotide reductase catalytic subunit M1 | Zelden (1–4%) | In 1 aandoening |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Zelden (1–4%) | In 1 aandoening |
| SLC25A4solute carrier family 25 member 4 | Zelden (1–4%) | In 1 aandoening |
| SPP1secreted phosphoprotein 1 | Zelden (1–4%) | In 1 aandoening |
| SPRED1sprouty related EVH1 domain containing 1 | Zelden (1–4%) | In 1 aandoening |
| STAT4signal transducer and activator of transcription 4 | Zelden (1–4%) | In 1 aandoening |
| TK2thymidine kinase 2 | Zelden (1–4%) | In 1 aandoening |
| TOP3ADNA topoisomerase III alpha | Zelden (1–4%) | In 1 aandoening |
| UBA1ubiquitin like modifier activating enzyme 1 | Zelden (1–4%) | In 1 aandoening |
| ADD3adducin 3 | Niet vastgelegd | In 1 aandoening |
| APOEapolipoprotein E | Niet vastgelegd | In 1 aandoening |
| APTXaprataxin | Niet vastgelegd | In 1 aandoening |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Niet vastgelegd | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Niet vastgelegd | In 1 aandoening |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Niet vastgelegd | In 1 aandoening |
| CFHcomplement factor H | Niet vastgelegd | In 1 aandoening |
| CFHR1complement factor H related 1 | Niet vastgelegd | In 1 aandoening |
| CFHR3complement factor H related 3 | Niet vastgelegd | In 1 aandoening |
| CTDP1CTD phosphatase 1 | Niet vastgelegd | In 1 aandoening |
| GLRX5glutaredoxin 5 | Niet vastgelegd | In 1 aandoening |
| IBA57iron-sulfur cluster assembly factor IBA57 | Niet vastgelegd | In 1 aandoening |
| MAGmyelin associated glycoprotein | Niet vastgelegd | In 1 aandoening |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Niet vastgelegd | In 1 aandoening |
| MTORmechanistic target of rapamycin kinase | Niet vastgelegd | In 1 aandoening |
| NAGAalpha-N-acetylgalactosaminidase | Niet vastgelegd | In 1 aandoening |
| NFIAnuclear factor I A | Niet vastgelegd | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Niet vastgelegd | In 1 aandoening |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Niet vastgelegd | In 1 aandoening |
| PRDM8PR/SET domain 8 | Niet vastgelegd | In 1 aandoening |
| PSEN2presenilin 2 | Niet vastgelegd | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Niet vastgelegd | In 1 aandoening |
| SKIC3SKI3 subunit of superkiller complex | Niet vastgelegd | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Niet vastgelegd | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Niet vastgelegd | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Niet vastgelegd | In 1 aandoening |
| SOSTsclerostin | Niet vastgelegd | In 1 aandoening |
| SPTBN2spectrin beta, non-erythrocytic 2 | Niet vastgelegd | In 1 aandoening |
| TSFMTs translation elongation factor, mitochondrial | Niet vastgelegd | In 1 aandoening |
| TTC19tetratricopeptide repeat domain 19 | Niet vastgelegd | In 1 aandoening |
| VPS37AVPS37A subunit of ESCRT-I | Niet vastgelegd | In 1 aandoening |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Niet vastgelegd | In 1 aandoening |
| XRCC4X-ray repair cross complementing 4 | 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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