Kenmerk
Babinski sign
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Samenvatting
- Ook bekend als
- Extensor plantar reflexes, Extensor plantar response, Extensor plantar responses, Positive Babinski sign
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Babinski sign 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 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Altijd | In 1 aandoening |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Altijd | In 3 aandoeningen |
| AMPD2adenosine monophosphate deaminase 2 | Altijd | In 1 aandoening |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Altijd | In 2 aandoeningen |
| ATG5autophagy related 5 | Altijd | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Altijd | In 1 aandoening |
| BORCS8BLOC-1 related complex subunit 8 | Altijd | In 1 aandoening |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Altijd | In 3 aandoeningen |
| CCT5chaperonin containing TCP1 subunit 5 | Altijd | In 2 aandoeningen |
| CHP1calcineurin like EF-hand protein 1 | Altijd | In 1 aandoening |
| CLDN11claudin 11 | Altijd | In 1 aandoening |
| CPT1Ccarnitine palmitoyltransferase 1C | Altijd | In 2 aandoeningen |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Altijd | In 2 aandoeningen |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Altijd | In 2 aandoeningen |
| DARS1aspartyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| DSTYKdual serine/threonine and tyrosine protein kinase | Altijd | In 1 aandoening |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altijd | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Altijd | In 1 aandoening |
| ERLIN2ER lipid raft associated 2 | Altijd | In 3 aandoeningen |
| FBXL4F-box and leucine rich repeat protein 4 | Altijd | In 1 aandoening |
| GBA2glucosylceramidase beta 2 | Altijd | In 3 aandoeningen |
| GFAPglial fibrillary acidic protein | Altijd | In 2 aandoeningen |
| GJC2gap junction protein gamma 2 | Altijd | In 2 aandoeningen |
| HMBShydroxymethylbilane synthase | Altijd | In 1 aandoening |
| HSPD1heat shock protein family D (Hsp60) member 1 | Altijd | In 3 aandoeningen |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Altijd | In 1 aandoening |
| IREB2iron responsive element binding protein 2 | Altijd | In 1 aandoening |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Altijd | In 1 aandoening |
| KIF1Akinesin family member 1A | Altijd | In 4 aandoeningen |
| KIF5Akinesin family member 5A | Altijd | In 2 aandoeningen |
| KLC4kinesin light chain 4 | Altijd | In 1 aandoening |
| KPNA3karyopherin subunit alpha 3 | Altijd | In 2 aandoeningen |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Altijd | In 1 aandoening |
| LYRM7LYR motif containing 7 | Altijd | In 1 aandoening |
| MAGmyelin associated glycoprotein | Altijd | In 2 aandoeningen |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altijd | In 1 aandoening |
| NEFHneurofilament heavy chain | Altijd | In 2 aandoeningen |
| NOTCH3notch receptor 3 | Altijd | In 1 aandoening |
| NT5C25'-nucleotidase, cytosolic II | Altijd | In 2 aandoeningen |
Toon nog 273 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Altijd | In 1 aandoening |
| PET117PET117 cytochrome c oxidase chaperone | Altijd | In 1 aandoening |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Altijd | In 2 aandoeningen |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altijd | In 2 aandoeningen |
| POLGDNA polymerase gamma, catalytic subunit | Altijd | In 2 aandoeningen |
| POLR1ARNA polymerase I subunit A | Altijd | In 1 aandoening |
| REEP1receptor accessory protein 1 | Altijd | In 1 aandoening |
| REEP2receptor accessory protein 2 | Altijd | In 2 aandoeningen |
| RFC4replication factor C subunit 4 | Altijd | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| RTN2reticulon 2 | Altijd | In 3 aandoeningen |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Altijd | In 1 aandoening |
| SELENOIselenoprotein I | Altijd | In 2 aandoeningen |
| SLC1A4solute carrier family 1 member 4 | Altijd | In 1 aandoening |
| SOD1superoxide dismutase 1 | Altijd | In 2 aandoeningen |
| SPARTspartin | Altijd | In 2 aandoeningen |
| SPG21SPG21 abhydrolase domain containing, maspardin | Altijd | In 1 aandoening |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Altijd | In 2 aandoeningen |
| TANGO2transport and golgi organization 2 homolog | Altijd | In 2 aandoeningen |
| TFGtrafficking from ER to golgi regulator | Altijd | In 2 aandoeningen |
| TMEM63Ctransmembrane protein 63C | Altijd | In 1 aandoening |
| TOR1Atorsin family 1 member A | Altijd | In 1 aandoening |
| TSEN2tRNA splicing endonuclease subunit 2 | Altijd | In 2 aandoeningen |
| VCPvalosin containing protein | Altijd | In 4 aandoeningen |
| WASHC5WASH complex subunit 5 | Altijd | In 2 aandoeningen |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Heel vaak (80–99%) | In 5 aandoeningen |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ATL1atlastin GTPase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP13A2ATPase cation transporting 13A2 | Heel vaak (80–99%) | In 5 aandoeningen |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CAPN1calpain 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| DDHD1DDHD domain containing 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ERLIN1ER lipid raft associated 1 | Heel vaak (80–99%) | In 1 aandoening |
| FA2Hfatty acid 2-hydroxylase | Heel vaak (80–99%) | In 2 aandoeningen |
| FXNfrataxin | Heel vaak (80–99%) | In 3 aandoeningen |
| GTPBP2GTP binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| MTPAPmitochondrial poly(A) polymerase | Heel vaak (80–99%) | In 2 aandoeningen |
| NIPA1NIPA magnesium transporter 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PLP1proteolipid protein 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| RNF170ring finger protein 170 | Heel vaak (80–99%) | In 1 aandoening |
| SLC33A1solute carrier family 33 member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Heel vaak (80–99%) | In 3 aandoeningen |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Heel vaak (80–99%) | In 3 aandoeningen |
| TTPAalpha tocopherol transfer protein | Heel vaak (80–99%) | In 1 aandoening |
| UBAP1ubiquitin associated protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| UCHL1ubiquitin C-terminal hydrolase L1 | Heel vaak (80–99%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| ABCD1ATP binding cassette subfamily D member 1 | Vaak (30–79%) | In 1 aandoening |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Vaak (30–79%) | In 1 aandoening |
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Vaak (30–79%) | In 1 aandoening |
| ACOX1acyl-CoA oxidase 1 | Vaak (30–79%) | In 1 aandoening |
| ADARadenosine deaminase RNA specific | Vaak (30–79%) | In 1 aandoening |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Vaak (30–79%) | In 2 aandoeningen |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Vaak (30–79%) | In 2 aandoeningen |
| ANGangiogenin | Vaak (30–79%) | In 1 aandoening |
| ANXA11annexin A11 | Vaak (30–79%) | In 2 aandoeningen |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Vaak (30–79%) | In 2 aandoeningen |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Vaak (30–79%) | In 2 aandoeningen |
| ARHGAP19Rho GTPase activating protein 19 | Vaak (30–79%) | In 1 aandoening |
| ASPAaspartoacylase | Vaak (30–79%) | In 2 aandoeningen |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Vaak (30–79%) | In 4 aandoeningen |
| ATXN10ataxin 10 | Vaak (30–79%) | In 2 aandoeningen |
| ATXN2ataxin 2 | Vaak (30–79%) | In 2 aandoeningen |
| ATXN3ataxin 3 | Vaak (30–79%) | In 4 aandoeningen |
| ATXN7ataxin 7 | Vaak (30–79%) | In 2 aandoeningen |
| C19orf12chromosome 19 open reading frame 12 | Vaak (30–79%) | In 2 aandoeningen |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Vaak (30–79%) | In 1 aandoening |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Vaak (30–79%) | In 2 aandoeningen |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| CAV1caveolin 1 | Vaak (30–79%) | In 1 aandoening |
| CCNFcyclin F | Vaak (30–79%) | In 1 aandoening |
| CFAP410cilia and flagella associated protein 410 | Vaak (30–79%) | In 1 aandoening |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Vaak (30–79%) | In 3 aandoeningen |
| CHMP2Bcharged multivesicular body protein 2B | Vaak (30–79%) | In 2 aandoeningen |
| COQ4coenzyme Q4 | Vaak (30–79%) | In 1 aandoening |
| COQ7coenzyme Q7, hydroxylase | Vaak (30–79%) | In 1 aandoening |
| COX20cytochrome c oxidase assembly factor COX20 | Vaak (30–79%) | In 1 aandoening |
| CWF19L1CWF19 like cell cycle control factor 1 | Vaak (30–79%) | In 1 aandoening |
| DAOD-amino acid oxidase | Vaak (30–79%) | In 1 aandoening |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 2 aandoeningen |
| DCTN1dynactin subunit 1 | Vaak (30–79%) | In 1 aandoening |
| DLATdihydrolipoamide S-acetyltransferase | Vaak (30–79%) | In 1 aandoening |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Vaak (30–79%) | In 2 aandoeningen |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Vaak (30–79%) | In 1 aandoening |
| DTYMKdeoxythymidylate kinase | Vaak (30–79%) | In 1 aandoening |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| ELOVL1ELOVL fatty acid elongase 1 | Vaak (30–79%) | In 1 aandoening |
| EPG5ectopic P-granules 5 autophagy tethering factor | Vaak (30–79%) | In 1 aandoening |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Vaak (30–79%) | In 1 aandoening |
| ETHE1ETHE1 persulfide dioxygenase | Vaak (30–79%) | In 1 aandoening |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 2 aandoeningen |
| FBXO7F-box protein 7 | Vaak (30–79%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 1 aandoening |
| FUSFUS RNA binding protein | Vaak (30–79%) | In 2 aandoeningen |
| GALCgalactosylceramidase | Vaak (30–79%) | In 1 aandoening |
| GCH1GTP cyclohydrolase 1 | Vaak (30–79%) | In 2 aandoeningen |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Vaak (30–79%) | In 2 aandoeningen |
| GLE1GLE1 RNA export mediator | Vaak (30–79%) | In 1 aandoening |
| GLRX5glutaredoxin 5 | Vaak (30–79%) | In 2 aandoeningen |
| GLT8D1glycosyltransferase 8 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GPT2glutamic--pyruvic transaminase 2 | Vaak (30–79%) | In 1 aandoening |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Vaak (30–79%) | In 1 aandoening |
| GTPBP1GTP binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Vaak (30–79%) | In 1 aandoening |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Vaak (30–79%) | In 1 aandoening |
| IMPDH2inosine monophosphate dehydrogenase 2 | Vaak (30–79%) | In 1 aandoening |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Vaak (30–79%) | In 1 aandoening |
| JAM2junctional adhesion molecule 2 | Vaak (30–79%) | In 1 aandoening |
| KIF1Ckinesin family member 1C | Vaak (30–79%) | In 2 aandoeningen |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| LMNB1lamin B1 | Vaak (30–79%) | In 1 aandoening |
| LRP12LDL receptor related protein 12 | Vaak (30–79%) | In 2 aandoeningen |
| MATR3matrin 3 | Vaak (30–79%) | In 1 aandoening |
| MDH2malate dehydrogenase 2 | Vaak (30–79%) | In 1 aandoening |
| MORC2MORC family CW-type zinc finger 2 | Vaak (30–79%) | In 3 aandoeningen |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 3 aandoeningen |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Vaak (30–79%) | In 1 aandoening |
| MTRFRmitochondrial translation release factor in rescue | Vaak (30–79%) | In 2 aandoeningen |
| NDE1nudE neurodevelopment protein 1 | Vaak (30–79%) | In 1 aandoening |
| NEK1NIMA related kinase 1 | Vaak (30–79%) | In 1 aandoening |
| NOP56NOP56 ribonucleoprotein | Vaak (30–79%) | In 2 aandoeningen |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Vaak (30–79%) | In 1 aandoening |
| NUP54nucleoporin 54 | Vaak (30–79%) | In 1 aandoening |
| NUP62nucleoporin 62 | Vaak (30–79%) | In 1 aandoening |
| OPTNoptineurin | Vaak (30–79%) | In 1 aandoening |
| PDYNprodynorphin | Vaak (30–79%) | In 2 aandoeningen |
| PFN1profilin 1 | Vaak (30–79%) | In 1 aandoening |
| PGBD5piggyBac transposable element derived 5 | Vaak (30–79%) | In 1 aandoening |
| PI4KAphosphatidylinositol 4-kinase alpha | Vaak (30–79%) | In 1 aandoening |
| PLAAphospholipase A2 activating protein | Vaak (30–79%) | In 1 aandoening |
| PNPLA6patatin like domain 6, lysophospholipase | Vaak (30–79%) | In 3 aandoeningen |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Vaak (30–79%) | In 2 aandoeningen |
| POLR3ARNA polymerase III subunit A | Vaak (30–79%) | In 2 aandoeningen |
| POLR3BRNA polymerase III subunit B | Vaak (30–79%) | In 2 aandoeningen |
| PRKNparkin RBR E3 ubiquitin protein ligase | Vaak (30–79%) | In 1 aandoening |
| PRNPprion protein (Kanno blood group) | Vaak (30–79%) | In 1 aandoening |
| PRPHperipherin | Vaak (30–79%) | In 1 aandoening |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| RFC1replication factor C subunit 1 | Vaak (30–79%) | In 1 aandoening |
| RUSC2RUN and SH3 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| SACSsacsin molecular chaperone | Vaak (30–79%) | In 2 aandoeningen |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Vaak (30–79%) | In 3 aandoeningen |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Vaak (30–79%) | In 1 aandoening |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Vaak (30–79%) | In 1 aandoening |
| SDHDsuccinate dehydrogenase complex subunit D | Vaak (30–79%) | In 1 aandoening |
| SETXsenataxin | Vaak (30–79%) | In 3 aandoeningen |
| SHMT2serine hydroxymethyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| SIGMAR1sigma receptor chaperone 1 | Vaak (30–79%) | In 1 aandoening |
| SLC19A3solute carrier family 19 member 3 | Vaak (30–79%) | In 1 aandoening |
| SLC1A2solute carrier family 1 member 2 | Vaak (30–79%) | In 1 aandoening |
| SLC39A14solute carrier family 39 member 14 | Vaak (30–79%) | In 2 aandoeningen |
| SLC44A1solute carrier family 44 member 1 | Vaak (30–79%) | In 1 aandoening |
| SNCAsynuclein alpha | Vaak (30–79%) | In 1 aandoening |
| SPASTspastin | Vaak (30–79%) | In 2 aandoeningen |
| SQSTM1sequestosome 1 | Vaak (30–79%) | In 2 aandoeningen |
| STUB1STIP1 homology and U-box containing protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Vaak (30–79%) | In 1 aandoening |
| TAF15TATA-box binding protein associated factor 15 | Vaak (30–79%) | In 1 aandoening |
| TAF2TATA-box binding protein associated factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| TARDBPTAR DNA binding protein | Vaak (30–79%) | In 3 aandoeningen |
| TBK1TANK binding kinase 1 | Vaak (30–79%) | In 2 aandoeningen |
| TGM6transglutaminase 6 | Vaak (30–79%) | In 2 aandoeningen |
| THtyrosine hydroxylase | Vaak (30–79%) | In 1 aandoening |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Vaak (30–79%) | In 1 aandoening |
| TPP1tripeptidyl peptidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| TREM2triggering receptor expressed on myeloid cells 2 | Vaak (30–79%) | In 3 aandoeningen |
| TRMT5tRNA methyltransferase 5 | Vaak (30–79%) | In 1 aandoening |
| TSPOAP1TSPO associated protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| TUBA4Atubulin alpha 4a | Vaak (30–79%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Vaak (30–79%) | In 2 aandoeningen |
| UBQLN2ubiquilin 2 | Vaak (30–79%) | In 1 aandoening |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| UNC13Aunc-13 homolog A | Vaak (30–79%) | In 1 aandoening |
| VAMP1vesicle associated membrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| VAPBVAMP associated protein B and C | Vaak (30–79%) | In 1 aandoening |
| WWOXWW domain containing oxidoreductase | Vaak (30–79%) | In 1 aandoening |
| ZFRzinc finger RNA binding protein | Vaak (30–79%) | In 1 aandoening |
| ZFYVE26zinc finger FYVE-type containing 26 | Vaak (30–79%) | In 2 aandoeningen |
| ADPRSADP-ribosylserine hydrolase | Soms (5–29%) | In 1 aandoening |
| ANO10anoctamin 10 | Soms (5–29%) | In 1 aandoening |
| ARSAarylsulfatase A | Soms (5–29%) | In 4 aandoeningen |
| ARXaristaless related homeobox | Soms (5–29%) | In 1 aandoening |
| BICD2BICD cargo adaptor 2 | Soms (5–29%) | In 1 aandoening |
| COL4A1collagen type IV alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COX18cytochrome c oxidase assembly factor COX18 | Soms (5–29%) | In 1 aandoening |
| DDCdopa decarboxylase | Soms (5–29%) | In 2 aandoeningen |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Soms (5–29%) | In 1 aandoening |
| DNMT1DNA methyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| EEF2eukaryotic translation elongation factor 2 | Soms (5–29%) | In 1 aandoening |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Soms (5–29%) | In 1 aandoening |
| FGF13fibroblast growth factor 13 | Soms (5–29%) | In 1 aandoening |
| GANgigaxonin | Soms (5–29%) | In 1 aandoening |
| GJB1gap junction protein beta 1 | Soms (5–29%) | In 2 aandoeningen |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Soms (5–29%) | In 1 aandoening |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Soms (5–29%) | In 1 aandoening |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Soms (5–29%) | In 1 aandoening |
| HTThuntingtin | Soms (5–29%) | In 1 aandoening |
| IBA57iron-sulfur cluster assembly factor IBA57 | Soms (5–29%) | In 2 aandoeningen |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Soms (5–29%) | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Soms (5–29%) | In 1 aandoening |
| KLC2kinesin light chain 2 | Soms (5–29%) | In 1 aandoening |
| KYkyphoscoliosis peptidase | Soms (5–29%) | In 1 aandoening |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Soms (5–29%) | In 1 aandoening |
| MFN2mitofusin 2 | Soms (5–29%) | In 2 aandoeningen |
| MPZmyelin protein zero | Soms (5–29%) | In 1 aandoening |
| MTTPmicrosomal triglyceride transfer protein | Soms (5–29%) | In 1 aandoening |
| NFU1NFU1 iron-sulfur cluster scaffold | Soms (5–29%) | In 1 aandoening |
| PANK2pantothenate kinase 2 | Soms (5–29%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Soms (5–29%) | In 1 aandoening |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Soms (5–29%) | In 1 aandoening |
| PMP22peripheral myelin protein 22 | Soms (5–29%) | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Soms (5–29%) | In 1 aandoening |
| PSAPprosaposin | Soms (5–29%) | In 5 aandoeningen |
| RAB3ARAB3A, member RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RARS1arginyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| RNASEH1ribonuclease H1 | Soms (5–29%) | In 1 aandoening |
| SAMD9Lsterile alpha motif domain containing 9 like | Soms (5–29%) | In 2 aandoeningen |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Soms (5–29%) | In 1 aandoening |
| SLC16A2solute carrier family 16 member 2 | Soms (5–29%) | In 2 aandoeningen |
| SLC25A46solute carrier family 25 member 46 | Soms (5–29%) | In 1 aandoening |
| SLC2A3solute carrier family 2 member 3 | Soms (5–29%) | In 1 aandoening |
| SLC9A7solute carrier family 9 member A7 | Soms (5–29%) | In 1 aandoening |
| SNX14sorting nexin 14 | Soms (5–29%) | In 2 aandoeningen |
| TBC1D20TBC1 domain family member 20 | Soms (5–29%) | In 1 aandoening |
| TMEM63Atransmembrane protein 63A | Soms (5–29%) | In 1 aandoening |
| TSEN15tRNA splicing endonuclease subunit 15 | Soms (5–29%) | In 2 aandoeningen |
| TSEN34tRNA splicing endonuclease subunit 34 | Soms (5–29%) | In 1 aandoening |
| TSEN54tRNA splicing endonuclease subunit 54 | Soms (5–29%) | In 1 aandoening |
| TTC19tetratricopeptide repeat domain 19 | Soms (5–29%) | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Soms (5–29%) | In 1 aandoening |
| UGDHUDP-glucose 6-dehydrogenase | Soms (5–29%) | In 1 aandoening |
| VRK1VRK serine/threonine kinase 1 | Soms (5–29%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Zelden (1–4%) | In 1 aandoening |
| FTLferritin light chain | Zelden (1–4%) | In 2 aandoeningen |
| AAASaladin WD repeat nucleoporin | Niet vastgelegd | In 1 aandoening |
| ADGRG1adhesion G protein-coupled receptor G1 | Niet vastgelegd | In 1 aandoening |
| APOEapolipoprotein E | Niet vastgelegd | In 1 aandoening |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Niet vastgelegd | In 1 aandoening |
| ATXN1ataxin 1 | Niet vastgelegd | In 1 aandoening |
| BRAT1BRCA1 associated ATM activator 1 | Niet vastgelegd | In 1 aandoening |
| CNTNAP1contactin associated protein 1 | Niet vastgelegd | In 1 aandoening |
| COQ2coenzyme Q2, polyprenyltransferase | Niet vastgelegd | In 1 aandoening |
| COXFA4cytochrome c oxidase associated subunit FA4 | Niet vastgelegd | In 1 aandoening |
| CTDP1CTD phosphatase 1 | Niet vastgelegd | In 1 aandoening |
| CTSFcathepsin F | Niet vastgelegd | In 1 aandoening |
| DDHD2DDHD domain containing 2 | Niet vastgelegd | In 1 aandoening |
| DEGS1delta 4-desaturase, sphingolipid 1 | Niet vastgelegd | In 1 aandoening |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Niet vastgelegd | In 1 aandoening |
| HTRA1HtrA serine peptidase 1 | Niet vastgelegd | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Niet vastgelegd | In 1 aandoening |
| KDM5Clysine demethylase 5C | Niet vastgelegd | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Niet vastgelegd | In 1 aandoening |
| MCOLN1mucolipin TRP cation channel 1 | Niet vastgelegd | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Niet vastgelegd | In 1 aandoening |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Niet vastgelegd | In 1 aandoening |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Niet vastgelegd | In 1 aandoening |
| NEFLneurofilament light chain | Niet vastgelegd | In 1 aandoening |
| NFASCneurofascin | Niet vastgelegd | In 1 aandoening |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Niet vastgelegd | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Niet vastgelegd | In 1 aandoening |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Niet vastgelegd | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Niet vastgelegd | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Niet vastgelegd | In 1 aandoening |
| PRICKLE1prickle planar cell polarity protein 1 | Niet vastgelegd | In 1 aandoening |
| PRSS12serine protease 12 | Niet vastgelegd | In 1 aandoening |
| PSEN1presenilin 1 | Niet vastgelegd | In 1 aandoening |
| PYCR2pyrroline-5-carboxylate reductase 2 | Niet vastgelegd | In 1 aandoening |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Niet vastgelegd | In 1 aandoening |
| VPS13Dvacuolar protein sorting 13 homolog D | Niet vastgelegd | In 1 aandoening |
| ZFHX3zinc finger homeobox 3 | 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.
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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