Kenmerk
Respiratory failure
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
Samenvatting
- Lichaamssysteem
- Abnormality of the respiratory system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Respiratory failure 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 |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Altijd | In 4 aandoeningen |
| AMTaminomethyltransferase | Altijd | In 1 aandoening |
| ATAD1ATPase family AAA domain containing 1 | Altijd | In 1 aandoening |
| COL6A2collagen type VI alpha 2 chain | 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 |
| DMRT2doublesex and mab-3 related transcription factor 2 | Altijd | In 1 aandoening |
| DNM1Ldynamin 1L | Altijd | In 1 aandoening |
| DSTdystonin | Altijd | In 1 aandoening |
| EXOSC8exosome component 8 | Altijd | In 2 aandoeningen |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altijd | In 1 aandoening |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 1 aandoening |
| GFRA1GDNF family receptor alpha 1 | Altijd | In 1 aandoening |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Altijd | In 1 aandoening |
| HSPB8heat shock protein family B (small) member 8 | Altijd | In 1 aandoening |
| HYDINHYDIN axonemal central pair apparatus protein | Altijd | In 2 aandoeningen |
| IFIH1interferon induced with helicase C domain 1 | Altijd | In 1 aandoening |
| LBX1ladybird homeobox 1 | Altijd | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Altijd | In 1 aandoening |
| LYRM7LYR motif containing 7 | Altijd | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altijd | In 1 aandoening |
| MED11mediator complex subunit 11 | Altijd | In 1 aandoening |
| MEGF10multiple EGF like domains 10 | Altijd | In 2 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 1 aandoening |
| MYL1myosin light chain 1 | Altijd | In 1 aandoening |
| NAXENAD(P)HX epimerase | Altijd | In 2 aandoeningen |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Altijd | In 1 aandoening |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Altijd | In 1 aandoening |
| NEBnebulin | Altijd | In 3 aandoeningen |
| NFU1NFU1 iron-sulfur cluster scaffold | Altijd | In 3 aandoeningen |
| PDCD1programmed cell death 1 | Altijd | In 1 aandoening |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Altijd | In 1 aandoening |
| PEX6peroxisomal biogenesis factor 6 | Altijd | In 1 aandoening |
| PSAPprosaposin | Altijd | In 2 aandoeningen |
| PTCD3pentatricopeptide repeat domain 3 | Altijd | In 1 aandoening |
| PTCRApre T cell antigen receptor alpha | Altijd | In 1 aandoening |
Toon nog 232 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| RMND1required for meiotic nuclear division 1 homolog | Altijd | In 1 aandoening |
| RNU6ATACRNA, U6atac small nuclear | Altijd | In 1 aandoening |
| SCO1synthesis of cytochrome C oxidase 1 | Altijd | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Altijd | In 2 aandoeningen |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Altijd | In 1 aandoening |
| SFTPCsurfactant protein C | Altijd | In 2 aandoeningen |
| SURF1SURF1 cytochrome c oxidase assembly factor | Altijd | In 1 aandoening |
| TACO1translational activator of cytochrome c oxidase I | Altijd | In 1 aandoening |
| TMEM63Btransmembrane protein 63B | Altijd | In 1 aandoening |
| TPI1triosephosphate isomerase 1 | Altijd | In 1 aandoening |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Altijd | In 1 aandoening |
| TSEN54tRNA splicing endonuclease subunit 54 | Altijd | In 1 aandoening |
| UNC13Aunc-13 homolog A | Altijd | In 2 aandoeningen |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| EXOSC3exosome component 3 | Heel vaak (80–99%) | In 1 aandoening |
| EXOSC9exosome component 9 | Heel vaak (80–99%) | In 1 aandoening |
| GATA2GATA binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| HTRA2HtrA serine peptidase 2 | Heel vaak (80–99%) | In 1 aandoening |
| KLHL40kelch like family member 40 | Heel vaak (80–99%) | In 2 aandoeningen |
| LAMA2laminin subunit alpha 2 | Heel vaak (80–99%) | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Heel vaak (80–99%) | In 1 aandoening |
| SLC25A46solute carrier family 25 member 46 | Heel vaak (80–99%) | In 2 aandoeningen |
| UBE3Bubiquitin protein ligase E3B | Heel vaak (80–99%) | In 1 aandoening |
| VRK1VRK serine/threonine kinase 1 | Heel vaak (80–99%) | In 1 aandoening |
| ABCA3ATP binding cassette subfamily A member 3 | Vaak (30–79%) | In 2 aandoeningen |
| ANGangiogenin | Vaak (30–79%) | In 1 aandoening |
| ANXA11annexin A11 | Vaak (30–79%) | In 1 aandoening |
| ATXN2ataxin 2 | Vaak (30–79%) | In 1 aandoening |
| BCHEbutyrylcholinesterase | Vaak (30–79%) | In 1 aandoening |
| BICD2BICD cargo adaptor 2 | Vaak (30–79%) | In 1 aandoening |
| BOLA3bolA family member 3 | Vaak (30–79%) | In 2 aandoeningen |
| CCNFcyclin F | Vaak (30–79%) | In 1 aandoening |
| CDC45cell division cycle 45 | Vaak (30–79%) | In 1 aandoening |
| CDC6cell division cycle 6 | Vaak (30–79%) | In 1 aandoening |
| CDT1chromatin licensing and DNA replication factor 1 | 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 1 aandoening |
| CHMP2Bcharged multivesicular body protein 2B | Vaak (30–79%) | In 1 aandoening |
| CNTNAP1contactin associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| COL12A1collagen type XII alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL6A1collagen type VI alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL6A3collagen type VI alpha 3 chain | Vaak (30–79%) | In 1 aandoening |
| DAOD-amino acid oxidase | Vaak (30–79%) | In 1 aandoening |
| DCTN1dynactin subunit 1 | Vaak (30–79%) | In 1 aandoening |
| DLK1delta like non-canonical Notch ligand 1 | Vaak (30–79%) | In 2 aandoeningen |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Vaak (30–79%) | In 1 aandoening |
| DSPdesmoplakin | Vaak (30–79%) | In 1 aandoening |
| DTYMKdeoxythymidylate kinase | Vaak (30–79%) | In 1 aandoening |
| DZIP1LDAZ interacting zinc finger protein 1 like | Vaak (30–79%) | In 1 aandoening |
| ECHS1enoyl-CoA hydratase, short chain 1 | Vaak (30–79%) | In 1 aandoening |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Vaak (30–79%) | In 1 aandoening |
| FAM20CFAM20C golgi associated secretory pathway kinase | Vaak (30–79%) | In 1 aandoening |
| FHL1four and a half LIM domains 1 | Vaak (30–79%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 1 aandoening |
| FUSFUS RNA binding protein | Vaak (30–79%) | In 1 aandoening |
| GAAalpha glucosidase | Vaak (30–79%) | In 1 aandoening |
| GLE1GLE1 RNA export mediator | Vaak (30–79%) | In 2 aandoeningen |
| GLSglutaminase | Vaak (30–79%) | In 1 aandoening |
| GLT8D1glycosyltransferase 8 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GMNNgeminin DNA replication inhibitor | Vaak (30–79%) | In 1 aandoening |
| GOSR2golgi SNAP receptor complex member 2 | Vaak (30–79%) | In 1 aandoening |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Vaak (30–79%) | In 1 aandoening |
| IBA57iron-sulfur cluster assembly factor IBA57 | Vaak (30–79%) | In 2 aandoeningen |
| JUPjunction plakoglobin | Vaak (30–79%) | In 1 aandoening |
| KLHL41kelch like family member 41 | Vaak (30–79%) | In 2 aandoeningen |
| LMOD3leiomodin 3 | 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 |
| MEG3maternally expressed 3 | Vaak (30–79%) | In 2 aandoeningen |
| MGME1mitochondrial genome maintenance exonuclease 1 | Vaak (30–79%) | In 1 aandoening |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Vaak (30–79%) | In 1 aandoening |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Vaak (30–79%) | In 1 aandoening |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Vaak (30–79%) | In 1 aandoening |
| NEFHneurofilament heavy chain | Vaak (30–79%) | In 1 aandoening |
| NEK1NIMA related kinase 1 | Vaak (30–79%) | In 1 aandoening |
| NFS1NFS1 cysteine desulfurase | Vaak (30–79%) | In 1 aandoening |
| NUP188nucleoporin 188 | Vaak (30–79%) | In 1 aandoening |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Vaak (30–79%) | In 1 aandoening |
| OPTNoptineurin | Vaak (30–79%) | In 2 aandoeningen |
| ORC1origin recognition complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| ORC4origin recognition complex subunit 4 | Vaak (30–79%) | In 1 aandoening |
| ORC6origin recognition complex subunit 6 | Vaak (30–79%) | In 1 aandoening |
| PFN1profilin 1 | Vaak (30–79%) | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Vaak (30–79%) | In 1 aandoening |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Vaak (30–79%) | In 1 aandoening |
| PRPHperipherin | Vaak (30–79%) | In 1 aandoening |
| RTL1retrotransposon Gag like 1 | Vaak (30–79%) | In 2 aandoeningen |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| SFTPBsurfactant protein B | Vaak (30–79%) | In 2 aandoeningen |
| SMPD1sphingomyelin phosphodiesterase 1 | Vaak (30–79%) | In 1 aandoening |
| SOD1superoxide dismutase 1 | Vaak (30–79%) | In 1 aandoening |
| SQSTM1sequestosome 1 | Vaak (30–79%) | In 1 aandoening |
| TAF15TATA-box binding protein associated factor 15 | Vaak (30–79%) | In 1 aandoening |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Vaak (30–79%) | In 1 aandoening |
| TARDBPTAR DNA binding protein | Vaak (30–79%) | In 1 aandoening |
| TBCDtubulin folding cofactor D | Vaak (30–79%) | In 1 aandoening |
| TBK1TANK binding kinase 1 | Vaak (30–79%) | In 1 aandoening |
| TMEM70transmembrane protein 70 | Vaak (30–79%) | In 1 aandoening |
| TPM3tropomyosin 3 | Vaak (30–79%) | In 2 aandoeningen |
| TREM2triggering receptor expressed on myeloid cells 2 | Vaak (30–79%) | In 1 aandoening |
| TSFMTs translation elongation factor, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| UBQLN2ubiquilin 2 | 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 2 aandoeningen |
| ZFPM2zinc finger protein, FOG family member 2 | Vaak (30–79%) | In 1 aandoening |
| AHCYadenosylhomocysteinase | Soms (5–29%) | In 1 aandoening |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| ASAH1N-acylsphingosine amidohydrolase 1 | Soms (5–29%) | In 1 aandoening |
| ATXN1ataxin 1 | Soms (5–29%) | In 1 aandoening |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Soms (5–29%) | In 1 aandoening |
| CLPBClpB family mitochondrial disaggregase | Soms (5–29%) | In 1 aandoening |
| COX7Bcytochrome c oxidase subunit 7B | Soms (5–29%) | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Soms (5–29%) | In 1 aandoening |
| CTSDcathepsin D | Soms (5–29%) | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Soms (5–29%) | In 1 aandoening |
| FKRPfukutin related protein | Soms (5–29%) | In 2 aandoeningen |
| FREM2FRAS1 related extracellular matrix 2 | Soms (5–29%) | In 1 aandoening |
| GALCgalactosylceramidase | Soms (5–29%) | In 1 aandoening |
| GMPPBGDP-mannose pyrophosphorylase B | Soms (5–29%) | In 1 aandoening |
| GTPBP3GTP binding protein 3, mitochondrial | Soms (5–29%) | In 1 aandoening |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Soms (5–29%) | In 1 aandoening |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Soms (5–29%) | In 2 aandoeningen |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Soms (5–29%) | In 1 aandoening |
| HCCSholocytochrome c synthase | Soms (5–29%) | In 1 aandoening |
| HMOX1heme oxygenase 1 | Soms (5–29%) | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| IRF4interferon regulatory factor 4 | Soms (5–29%) | In 1 aandoening |
| ITGA7integrin subunit alpha 7 | Soms (5–29%) | In 1 aandoening |
| KARS1lysyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| LAMA3laminin subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| LAMB3laminin subunit beta 3 | Soms (5–29%) | In 1 aandoening |
| LAMC2laminin subunit gamma 2 | Soms (5–29%) | In 1 aandoening |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| LRPPRCleucine rich pentatricopeptide repeat containing | Soms (5–29%) | In 1 aandoening |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Soms (5–29%) | In 1 aandoening |
| MCM4minichromosome maintenance complex component 4 | Soms (5–29%) | In 1 aandoening |
| MYL2myosin light chain 2 | Soms (5–29%) | In 1 aandoening |
| MYOTmyotilin | Soms (5–29%) | In 1 aandoening |
| NBNnibrin | Soms (5–29%) | In 1 aandoening |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Soms (5–29%) | In 1 aandoening |
| PLP1proteolipid protein 1 | Soms (5–29%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| RNF168ring finger protein 168 | Soms (5–29%) | In 1 aandoening |
| RYR1ryanodine receptor 1 | Soms (5–29%) | In 1 aandoening |
| SELENONselenoprotein N | Soms (5–29%) | In 1 aandoening |
| SLC2A10solute carrier family 2 member 10 | Soms (5–29%) | In 1 aandoening |
| SMAD4SMAD family member 4 | Soms (5–29%) | In 1 aandoening |
| SONSON DNA and RNA binding protein | Soms (5–29%) | In 1 aandoening |
| TFGtrafficking from ER to golgi regulator | Soms (5–29%) | In 1 aandoening |
| TPM2tropomyosin 2 | Soms (5–29%) | In 1 aandoening |
| BLMBLM RecQ like helicase | Zelden (1–4%) | In 1 aandoening |
| BRWD1bromodomain and WD repeat domain containing 1 | Zelden (1–4%) | In 1 aandoening |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Zelden (1–4%) | In 1 aandoening |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Zelden (1–4%) | In 1 aandoening |
| CCNOcyclin O | Zelden (1–4%) | In 1 aandoening |
| CFAP221cilia and flagella associated protein 221 | Zelden (1–4%) | In 1 aandoening |
| CFAP298cilia and flagella associated protein 298 | Zelden (1–4%) | In 1 aandoening |
| CFAP300cilia and flagella associated protein 300 | Zelden (1–4%) | In 1 aandoening |
| CFAP74cilia and flagella associated protein 74 | Zelden (1–4%) | In 1 aandoening |
| CLXNcalaxin | Zelden (1–4%) | In 1 aandoening |
| DAW1dynein assembly factor with WD repeats 1 | Zelden (1–4%) | In 1 aandoening |
| DNAAF1dynein axonemal assembly factor 1 | Zelden (1–4%) | In 1 aandoening |
| DNAAF11dynein axonemal assembly factor 11 | Zelden (1–4%) | In 1 aandoening |
| DNAAF19dynein axonemal assembly factor 19 | Zelden (1–4%) | In 1 aandoening |
| DNAAF2dynein axonemal assembly factor 2 | Zelden (1–4%) | In 1 aandoening |
| DNAAF3dynein axonemal assembly factor 3 | Zelden (1–4%) | In 1 aandoening |
| DNAAF4dynein axonemal assembly factor 4 | Zelden (1–4%) | In 1 aandoening |
| DNAAF5dynein axonemal assembly factor 5 | Zelden (1–4%) | In 1 aandoening |
| DNAAF6dynein axonemal assembly factor 6 | Zelden (1–4%) | In 1 aandoening |
| DNAH1dynein axonemal heavy chain 1 | Zelden (1–4%) | In 1 aandoening |
| DNAH11dynein axonemal heavy chain 11 | Zelden (1–4%) | In 1 aandoening |
| DNAH5dynein axonemal heavy chain 5 | Zelden (1–4%) | In 1 aandoening |
| DNAH7dynein axonemal heavy chain 7 | Zelden (1–4%) | In 1 aandoening |
| DNAH9dynein axonemal heavy chain 9 | Zelden (1–4%) | In 1 aandoening |
| DNAI1dynein axonemal intermediate chain 1 | Zelden (1–4%) | In 1 aandoening |
| DNAI2dynein axonemal intermediate chain 2 | Zelden (1–4%) | In 1 aandoening |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Zelden (1–4%) | In 1 aandoening |
| DNAL1dynein axonemal light chain 1 | Zelden (1–4%) | In 1 aandoening |
| DRC1dynein regulatory complex subunit 1 | Zelden (1–4%) | In 1 aandoening |
| DRC2dynein regulatory complex subunit 2 | Zelden (1–4%) | In 1 aandoening |
| DRC4dynein regulatory complex subunit 4 | Zelden (1–4%) | In 1 aandoening |
| FOXJ1forkhead box J1 | Zelden (1–4%) | In 1 aandoening |
| GAS2L2growth arrest specific 2 like 2 | Zelden (1–4%) | In 1 aandoening |
| IFNGinterferon gamma | Zelden (1–4%) | In 1 aandoening |
| LRRC56leucine rich repeat containing 56 | Zelden (1–4%) | In 1 aandoening |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Zelden (1–4%) | In 1 aandoening |
| MTTPmicrosomal triglyceride transfer protein | Zelden (1–4%) | In 1 aandoening |
| NEK10NIMA related kinase 10 | Zelden (1–4%) | In 1 aandoening |
| NKX2-1NK2 homeobox 1 | Zelden (1–4%) | In 1 aandoening |
| NME5NME/NM23 family member 5 | Zelden (1–4%) | In 1 aandoening |
| NME8NME/NM23 family member 8 | Zelden (1–4%) | In 1 aandoening |
| ODAD1outer dynein arm docking complex subunit 1 | Zelden (1–4%) | In 1 aandoening |
| ODAD2outer dynein arm docking complex subunit 2 | Zelden (1–4%) | In 1 aandoening |
| ODAD3outer dynein arm docking complex subunit 3 | Zelden (1–4%) | In 1 aandoening |
| ODAD4outer dynein arm docking complex subunit 4 | Zelden (1–4%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Zelden (1–4%) | In 1 aandoening |
| RPGRretinitis pigmentosa GTPase regulator | Zelden (1–4%) | In 1 aandoening |
| RSPH1radial spoke head component 1 | Zelden (1–4%) | In 1 aandoening |
| RSPH3radial spoke head 3 | Zelden (1–4%) | In 1 aandoening |
| RSPH4Aradial spoke head component 4A | Zelden (1–4%) | In 1 aandoening |
| RSPH9radial spoke head component 9 | Zelden (1–4%) | In 1 aandoening |
| SLC34A2solute carrier family 34 member 2 | Zelden (1–4%) | In 1 aandoening |
| SPAG1sperm associated antigen 1 | Zelden (1–4%) | In 1 aandoening |
| SPEF2sperm flagellar and cilia associated 2 | Zelden (1–4%) | In 1 aandoening |
| STK36serine/threonine kinase 36 | Zelden (1–4%) | In 1 aandoening |
| TSC1TSC complex subunit 1 | Zelden (1–4%) | In 1 aandoening |
| TSC2TSC complex subunit 2 | Zelden (1–4%) | In 1 aandoening |
| TTC12tetratricopeptide repeat domain 12 | Zelden (1–4%) | In 1 aandoening |
| ZMYND10zinc finger MYND-type containing 10 | Zelden (1–4%) | In 1 aandoening |
| ACVR1activin A receptor type 1 | Niet vastgelegd | In 1 aandoening |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| CPT2carnitine palmitoyltransferase 2 | Niet vastgelegd | In 1 aandoening |
| CRYABcrystallin alpha B | Niet vastgelegd | In 1 aandoening |
| DAG1dystroglycan 1 | Niet vastgelegd | In 1 aandoening |
| DMDdystrophin | Niet vastgelegd | In 1 aandoening |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Niet vastgelegd | In 1 aandoening |
| FLNAfilamin A | Niet vastgelegd | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Niet vastgelegd | In 1 aandoening |
| IFT81intraflagellar transport 81 | Niet vastgelegd | In 1 aandoening |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Niet vastgelegd | In 1 aandoening |
| INVSinversin | Niet vastgelegd | In 1 aandoening |
| LTBP3latent transforming growth factor beta binding protein 3 | Niet vastgelegd | In 1 aandoening |
| NPC2NPC intracellular cholesterol transporter 2 | Niet vastgelegd | In 1 aandoening |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Niet vastgelegd | In 1 aandoening |
| SLC25A26solute carrier family 25 member 26 | Niet vastgelegd | In 1 aandoening |
| SLC6A9solute carrier family 6 member 9 | Niet vastgelegd | In 1 aandoening |
| SMN1survival of motor neuron 1, telomeric | Niet vastgelegd | In 1 aandoening |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Niet vastgelegd | In 1 aandoening |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Niet vastgelegd | In 2 aandoeningen |
| TTNtitin | Niet vastgelegd | In 2 aandoeningen |
| TUFMTu translation elongation factor, 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.
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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