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Kenmerk
Disease of the heart muscle
Klinische naam: Cardiomyopathy
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Samenvatting
- Lichaamssysteem
- Abnormality of the cardiovascular system
Disease of the heart muscleHP:0001638
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Mijn Genome Test bestellen250 genen gekoppeld aan Disease of the heart muscle
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Disease of the heart muscle 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 |
|---|---|---|
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Altijd | In 2 aandoeningen |
| C1QBPcomplement C1q binding protein | Altijd | In 1 aandoening |
| DAND5DAN domain BMP antagonist family member 5 | Altijd | In 1 aandoening |
| DNM1Ldynamin 1L | Altijd | In 1 aandoening |
| GATCglutamyl-tRNA amidotransferase subunit C | Altijd | In 1 aandoening |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Altijd | In 2 aandoeningen |
| LMNAlamin A/C | Altijd | In 2 aandoeningen |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Altijd | In 1 aandoening |
| PEX7peroxisomal biogenesis factor 7 | Altijd | In 3 aandoeningen |
| RFC4replication factor C subunit 4 | Altijd | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Altijd | In 2 aandoeningen |
| SGCAsarcoglycan alpha | Altijd | In 1 aandoening |
| TRIM63tripartite motif containing 63 | Altijd | In 1 aandoening |
| DMDdystrophin | Heel vaak (80–99%) | In 3 aandoeningen |
| EPG5ectopic P-granules 5 autophagy tethering factor | Heel vaak (80–99%) | In 2 aandoeningen |
| IDUAalpha-L-iduronidase | Heel vaak (80–99%) | In 3 aandoeningen |
| JUPjunction plakoglobin | Heel vaak (80–99%) | In 2 aandoeningen |
| LTBP4latent transforming growth factor beta binding protein 4 | Heel vaak (80–99%) | In 1 aandoening |
| PHYHphytanoyl-CoA 2-hydroxylase | Heel vaak (80–99%) | In 2 aandoeningen |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Heel vaak (80–99%) | In 1 aandoening |
| SLC25A20solute carrier family 25 member 20 | Heel vaak (80–99%) | In 2 aandoeningen |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Vaak (30–79%) | In 1 aandoening |
| ADCY5adenylate cyclase 5 | Vaak (30–79%) | In 2 aandoeningen |
| APOA1apolipoprotein A1 | Vaak (30–79%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Vaak (30–79%) | In 1 aandoening |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Vaak (30–79%) | In 1 aandoening |
| CPT2carnitine palmitoyltransferase 2 | Vaak (30–79%) | In 2 aandoeningen |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Vaak (30–79%) | In 1 aandoening |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Vaak (30–79%) | In 1 aandoening |
| EMILIN1elastin microfibril interfacer 1 | Vaak (30–79%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 2 aandoeningen |
| FXNfrataxin | Vaak (30–79%) | In 1 aandoening |
| GLB1galactosidase beta 1 | Vaak (30–79%) | In 1 aandoening |
| GMPPBGDP-mannose pyrophosphorylase B | Vaak (30–79%) | In 3 aandoeningen |
| GUSBglucuronidase beta | Vaak (30–79%) | In 1 aandoening |
| GYG1glycogenin 1 | Vaak (30–79%) | In 1 aandoening |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Vaak (30–79%) | In 2 aandoeningen |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Vaak (30–79%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Vaak (30–79%) | In 1 aandoening |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
Toon nog 210 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| MAP2K1mitogen-activated protein kinase kinase 1 | Vaak (30–79%) | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Vaak (30–79%) | In 1 aandoening |
| MED12mediator complex subunit 12 | Vaak (30–79%) | In 1 aandoening |
| MLYCDmalonyl-CoA decarboxylase | Vaak (30–79%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Vaak (30–79%) | In 3 aandoeningen |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Vaak (30–79%) | In 1 aandoening |
| MYPNmyopalladin | Vaak (30–79%) | In 2 aandoeningen |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Vaak (30–79%) | In 3 aandoeningen |
| POLGDNA polymerase gamma, catalytic subunit | Vaak (30–79%) | In 2 aandoeningen |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Vaak (30–79%) | In 1 aandoening |
| RRM1ribonucleotide reductase catalytic subunit M1 | Vaak (30–79%) | In 1 aandoening |
| SLC22A5solute carrier family 22 member 5 | Vaak (30–79%) | In 1 aandoening |
| TK2thymidine kinase 2 | Vaak (30–79%) | In 1 aandoening |
| TOP3ADNA topoisomerase III alpha | Vaak (30–79%) | In 1 aandoening |
| TRIP4thyroid hormone receptor interactor 4 | Vaak (30–79%) | In 1 aandoening |
| TTRtransthyretin | Vaak (30–79%) | In 2 aandoeningen |
| VAC14VAC14 component of PIKFYVE complex | Vaak (30–79%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ACADSacyl-CoA dehydrogenase short chain | Soms (5–29%) | In 2 aandoeningen |
| ACTA1actin alpha 1, skeletal muscle | Soms (5–29%) | In 2 aandoeningen |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| AHCYadenosylhomocysteinase | Soms (5–29%) | In 2 aandoeningen |
| ANO5anoctamin 5 | Soms (5–29%) | In 1 aandoening |
| BMP6bone morphogenetic protein 6 | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CCND1cyclin D1 | Soms (5–29%) | In 1 aandoening |
| CISD2CDGSH iron sulfur domain 2 | Soms (5–29%) | In 1 aandoening |
| CLPBClpB family mitochondrial disaggregase | Soms (5–29%) | In 1 aandoening |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Soms (5–29%) | In 1 aandoening |
| CRYABcrystallin alpha B | Soms (5–29%) | In 1 aandoening |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Soms (5–29%) | In 2 aandoeningen |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DDX3XDEAD-box helicase 3 X-linked | Soms (5–29%) | In 1 aandoening |
| DLDdihydrolipoamide dehydrogenase | Soms (5–29%) | In 1 aandoening |
| DLSTdihydrolipoamide S-succinyltransferase | Soms (5–29%) | In 1 aandoening |
| DNMT3ADNA methyltransferase 3 alpha | Soms (5–29%) | In 1 aandoening |
| DOT1LDOT1 like histone lysine methyltransferase | Soms (5–29%) | In 1 aandoening |
| DSPdesmoplakin | Soms (5–29%) | In 1 aandoening |
| DSTdystonin | Soms (5–29%) | In 1 aandoening |
| EPAS1endothelial PAS domain protein 1 | Soms (5–29%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| FHfumarate hydratase | Soms (5–29%) | In 1 aandoening |
| FLAD1flavin adenine dinucleotide synthetase 1 | Soms (5–29%) | In 1 aandoening |
| FLNCfilamin C | Soms (5–29%) | In 3 aandoeningen |
| GPC3glypican 3 | Soms (5–29%) | In 2 aandoeningen |
| GPC4glypican 4 | Soms (5–29%) | In 1 aandoening |
| GSNgelsolin | Soms (5–29%) | In 2 aandoeningen |
| GTF2E2general transcription factor IIE subunit 2 | Soms (5–29%) | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Soms (5–29%) | In 1 aandoening |
| GUK1guanylate kinase 1 | Soms (5–29%) | In 1 aandoening |
| HFEhomeostatic iron regulator | Soms (5–29%) | In 2 aandoeningen |
| HJVhemojuvelin BMP co-receptor | Soms (5–29%) | In 1 aandoening |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Soms (5–29%) | In 2 aandoeningen |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Soms (5–29%) | In 1 aandoening |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Soms (5–29%) | In 2 aandoeningen |
| INSRinsulin receptor | Soms (5–29%) | In 1 aandoening |
| ITPAinosine triphosphatase | Soms (5–29%) | In 1 aandoening |
| JAG2jagged canonical Notch ligand 2 | Soms (5–29%) | In 1 aandoening |
| KBTBD13kelch repeat and BTB domain containing 13 | Soms (5–29%) | In 1 aandoening |
| KIF1Bkinesin family member 1B | Soms (5–29%) | In 1 aandoening |
| KLHL41kelch like family member 41 | Soms (5–29%) | In 2 aandoeningen |
| LAMA2laminin subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| MAXMYC associated transcriptional regulator X | Soms (5–29%) | In 1 aandoening |
| MDH2malate dehydrogenase 2 | Soms (5–29%) | In 1 aandoening |
| MMUTmethylmalonyl-CoA mutase | Soms (5–29%) | In 2 aandoeningen |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Soms (5–29%) | In 1 aandoening |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Soms (5–29%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Soms (5–29%) | In 1 aandoening |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Soms (5–29%) | In 1 aandoening |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Soms (5–29%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Soms (5–29%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Soms (5–29%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Soms (5–29%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Soms (5–29%) | In 1 aandoening |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Soms (5–29%) | In 1 aandoening |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Soms (5–29%) | In 1 aandoening |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Soms (5–29%) | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Soms (5–29%) | In 1 aandoening |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Soms (5–29%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Soms (5–29%) | In 1 aandoening |
| MYOTmyotilin | Soms (5–29%) | In 2 aandoeningen |
| NAXDNAD(P)HX dehydratase | Soms (5–29%) | In 1 aandoening |
| NBASNBAS subunit of NRZ tethering complex | Soms (5–29%) | In 1 aandoening |
| NEBnebulin | Soms (5–29%) | In 3 aandoeningen |
| NF1neurofibromin 1 | Soms (5–29%) | In 1 aandoening |
| NFU1NFU1 iron-sulfur cluster scaffold | Soms (5–29%) | In 1 aandoening |
| NPPAnatriuretic peptide A | Soms (5–29%) | In 2 aandoeningen |
| PCCApropionyl-CoA carboxylase subunit alpha | Soms (5–29%) | In 2 aandoeningen |
| PCCBpropionyl-CoA carboxylase subunit beta | Soms (5–29%) | In 2 aandoeningen |
| PEX1peroxisomal biogenesis factor 1 | Soms (5–29%) | In 1 aandoening |
| PEX10peroxisomal biogenesis factor 10 | Soms (5–29%) | In 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | Soms (5–29%) | In 1 aandoening |
| PEX12peroxisomal biogenesis factor 12 | Soms (5–29%) | In 1 aandoening |
| PEX13peroxisomal biogenesis factor 13 | Soms (5–29%) | In 1 aandoening |
| PEX14peroxisomal biogenesis factor 14 | Soms (5–29%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Soms (5–29%) | In 1 aandoening |
| PEX19peroxisomal biogenesis factor 19 | Soms (5–29%) | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Soms (5–29%) | In 1 aandoening |
| PEX26peroxisomal biogenesis factor 26 | Soms (5–29%) | In 1 aandoening |
| PEX3peroxisomal biogenesis factor 3 | Soms (5–29%) | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Soms (5–29%) | In 1 aandoening |
| PEX6peroxisomal biogenesis factor 6 | Soms (5–29%) | In 1 aandoening |
| PMM2phosphomannomutase 2 | Soms (5–29%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Soms (5–29%) | In 4 aandoeningen |
| RETret proto-oncogene | Soms (5–29%) | In 2 aandoeningen |
| RMND1required for meiotic nuclear division 1 homolog | Soms (5–29%) | In 1 aandoening |
| RNASEH1ribonuclease H1 | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RPS6KA3ribosomal protein S6 kinase A3 | Soms (5–29%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Soms (5–29%) | In 2 aandoeningen |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Soms (5–29%) | In 1 aandoening |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Soms (5–29%) | In 1 aandoening |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Soms (5–29%) | In 2 aandoeningen |
| SDHCsuccinate dehydrogenase complex subunit C | Soms (5–29%) | In 1 aandoening |
| SDHDsuccinate dehydrogenase complex subunit D | Soms (5–29%) | In 2 aandoeningen |
| SGCBsarcoglycan beta | Soms (5–29%) | In 1 aandoening |
| SLC19A2solute carrier family 19 member 2 | Soms (5–29%) | In 1 aandoening |
| SLC25A11solute carrier family 25 member 11 | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TFR2transferrin receptor 2 | Soms (5–29%) | In 2 aandoeningen |
| TMEM127transmembrane protein 127 | Soms (5–29%) | In 1 aandoening |
| TPM2tropomyosin 2 | Soms (5–29%) | In 1 aandoening |
| TPM3tropomyosin 3 | Soms (5–29%) | In 2 aandoeningen |
| TREX1three prime repair exonuclease 1 | Soms (5–29%) | In 2 aandoeningen |
| TRNT1tRNA nucleotidyl transferase 1 | Soms (5–29%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Soms (5–29%) | In 1 aandoening |
| USP9Xubiquitin specific peptidase 9 X-linked | Soms (5–29%) | In 1 aandoening |
| VCPvalosin containing protein | Soms (5–29%) | In 2 aandoeningen |
| VHLvon Hippel-Lindau tumor suppressor | Soms (5–29%) | In 3 aandoeningen |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 2 aandoeningen |
| WFS1wolframin ER transmembrane glycoprotein | Soms (5–29%) | In 2 aandoeningen |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Soms (5–29%) | In 1 aandoening |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Zelden (1–4%) | In 1 aandoening |
| ARL6ARF like GTPase 6 | Zelden (1–4%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Zelden (1–4%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Zelden (1–4%) | In 1 aandoening |
| BBIP1BBSome interacting protein 1 | Zelden (1–4%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Zelden (1–4%) | In 1 aandoening |
| BBS10Bardet-Biedl syndrome 10 | Zelden (1–4%) | In 1 aandoening |
| BBS12Bardet-Biedl syndrome 12 | Zelden (1–4%) | In 1 aandoening |
| BBS2Bardet-Biedl syndrome 2 | Zelden (1–4%) | In 1 aandoening |
| BBS4Bardet-Biedl syndrome 4 | Zelden (1–4%) | In 1 aandoening |
| BBS5Bardet-Biedl syndrome 5 | Zelden (1–4%) | In 1 aandoening |
| BBS7Bardet-Biedl syndrome 7 | Zelden (1–4%) | In 1 aandoening |
| BBS9Bardet-Biedl syndrome 9 | Zelden (1–4%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Zelden (1–4%) | In 1 aandoening |
| CEP19centrosomal protein 19 | Zelden (1–4%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Zelden (1–4%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Zelden (1–4%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Zelden (1–4%) | In 1 aandoening |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Zelden (1–4%) | In 1 aandoening |
| FKRPfukutin related protein | Zelden (1–4%) | In 1 aandoening |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Zelden (1–4%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Zelden (1–4%) | In 1 aandoening |
| IFT27intraflagellar transport 27 | Zelden (1–4%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Zelden (1–4%) | In 1 aandoening |
| LDB3LIM domain binding 3 | Zelden (1–4%) | In 2 aandoeningen |
| LZTFL1leucine zipper transcription factor like 1 | Zelden (1–4%) | In 1 aandoening |
| MKKSMKKS centrosomal shuttling protein | Zelden (1–4%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Zelden (1–4%) | In 1 aandoening |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Zelden (1–4%) | In 1 aandoening |
| NPHP1nephrocystin 1 | Zelden (1–4%) | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Zelden (1–4%) | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Zelden (1–4%) | In 1 aandoening |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Zelden (1–4%) | In 1 aandoening |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Zelden (1–4%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Zelden (1–4%) | In 1 aandoening |
| POMKprotein O-mannose kinase | Zelden (1–4%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Zelden (1–4%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Zelden (1–4%) | In 1 aandoening |
| SCAPERS-phase cyclin A associated protein in the ER | Zelden (1–4%) | In 1 aandoening |
| SCLT1sodium channel and clathrin linker 1 | Zelden (1–4%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Zelden (1–4%) | In 1 aandoening |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Zelden (1–4%) | In 1 aandoening |
| SLC1A3solute carrier family 1 member 3 | Zelden (1–4%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Zelden (1–4%) | In 1 aandoening |
| TNXBtenascin XB | Zelden (1–4%) | In 1 aandoening |
| TRIM32tripartite motif containing 32 | Zelden (1–4%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Zelden (1–4%) | In 1 aandoening |
| WDPCPWD repeat containing planar cell polarity effector | Zelden (1–4%) | In 1 aandoening |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Niet vastgelegd | In 1 aandoening |
| AIPAHR interacting HSP90 co-chaperone | Niet vastgelegd | In 1 aandoening |
| ARSBarylsulfatase B | Niet vastgelegd | In 1 aandoening |
| BMP2bone morphogenetic protein 2 | Niet vastgelegd | In 1 aandoening |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Niet vastgelegd | In 1 aandoening |
| COX15cytochrome c oxidase assembly factor COX15 | Niet vastgelegd | In 1 aandoening |
| DCAF8DDB1 and CUL4 associated factor 8 | Niet vastgelegd | In 1 aandoening |
| FHL1four and a half LIM domains 1 | Niet vastgelegd | In 1 aandoening |
| GBE11,4-alpha-glucan branching enzyme 1 | Niet vastgelegd | In 1 aandoening |
| GYS1glycogen synthase 1 | Niet vastgelegd | In 1 aandoening |
| HAMPhepcidin antimicrobial peptide | Niet vastgelegd | In 1 aandoening |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Niet vastgelegd | In 1 aandoening |
| IGF2insulin like growth factor 2 | Niet vastgelegd | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Niet vastgelegd | In 1 aandoening |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Niet vastgelegd | In 1 aandoening |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Niet vastgelegd | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Niet vastgelegd | In 1 aandoening |
| MICU1mitochondrial calcium uptake 1 | Niet vastgelegd | In 1 aandoening |
| MYO18Bmyosin XVIIIB | Niet vastgelegd | In 1 aandoening |
| NEU1neuraminidase 1 | Niet vastgelegd | In 1 aandoening |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Niet vastgelegd | In 1 aandoening |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Niet vastgelegd | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Niet vastgelegd | In 1 aandoening |
| SLC40A1solute carrier family 40 member 1 | Niet vastgelegd | In 1 aandoening |
| SQSTM1sequestosome 1 | Niet vastgelegd | In 1 aandoening |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Niet vastgelegd | In 1 aandoening |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Niet vastgelegd | In 1 aandoening |
| TTNtitin | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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