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Egenskap
Disease of the heart muscle
Klinisk navn: 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.
Sammendrag
- Kroppssystem
- Abnormality of the cardiovascular system
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/cardiomyopathy.json"
page <- fromJSON(url)
page$trait$nameDisease of the heart muscleHP:0001638
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Les genene knyttet til Disease of the heart muscle, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test250 gener knyttet til Disease of the heart muscle
Endringer i disse genene forårsaker sjeldne tilstander der Disease of the heart muscle forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Alltid | I 2 tilstander |
| C1QBPcomplement C1q binding protein | Alltid | I 1 tilstand |
| DAND5DAN domain BMP antagonist family member 5 | Alltid | I 1 tilstand |
| DNM1Ldynamin 1L | Alltid | I 1 tilstand |
| GATCglutamyl-tRNA amidotransferase subunit C | Alltid | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Alltid | I 2 tilstander |
| LMNAlamin A/C | Alltid | I 2 tilstander |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Alltid | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Alltid | I 3 tilstander |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Alltid | I 2 tilstander |
| SGCAsarcoglycan alpha | Alltid | I 1 tilstand |
| TRIM63tripartite motif containing 63 | Alltid | I 1 tilstand |
| DMDdystrophin | Svært ofte (80–99 %) | I 3 tilstander |
| EPG5ectopic P-granules 5 autophagy tethering factor | Svært ofte (80–99 %) | I 2 tilstander |
| IDUAalpha-L-iduronidase | Svært ofte (80–99 %) | I 3 tilstander |
| JUPjunction plakoglobin | Svært ofte (80–99 %) | I 2 tilstander |
| LTBP4latent transforming growth factor beta binding protein 4 | Svært ofte (80–99 %) | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Svært ofte (80–99 %) | I 2 tilstander |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Svært ofte (80–99 %) | I 1 tilstand |
| SLC25A20solute carrier family 25 member 20 | Svært ofte (80–99 %) | I 2 tilstander |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Ofte (30–79 %) | I 2 tilstander |
| APOA1apolipoprotein A1 | Ofte (30–79 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Ofte (30–79 %) | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Ofte (30–79 %) | I 2 tilstander |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Ofte (30–79 %) | I 1 tilstand |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Ofte (30–79 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 2 tilstander |
| FXNfrataxin | Ofte (30–79 %) | I 1 tilstand |
| GLB1galactosidase beta 1 | Ofte (30–79 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Ofte (30–79 %) | I 3 tilstander |
| GUSBglucuronidase beta | Ofte (30–79 %) | I 1 tilstand |
| GYG1glycogenin 1 | Ofte (30–79 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Ofte (30–79 %) | I 2 tilstander |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Ofte (30–79 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
Vis 210 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 1 tilstand |
| MLYCDmalonyl-CoA decarboxylase | Ofte (30–79 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 3 tilstander |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ofte (30–79 %) | I 1 tilstand |
| MYPNmyopalladin | Ofte (30–79 %) | I 2 tilstander |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Ofte (30–79 %) | I 3 tilstander |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 2 tilstander |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Ofte (30–79 %) | I 1 tilstand |
| SLC22A5solute carrier family 22 member 5 | Ofte (30–79 %) | I 1 tilstand |
| TK2thymidine kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Ofte (30–79 %) | I 1 tilstand |
| TRIP4thyroid hormone receptor interactor 4 | Ofte (30–79 %) | I 1 tilstand |
| TTRtransthyretin | Ofte (30–79 %) | I 2 tilstander |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACADSacyl-CoA dehydrogenase short chain | Noen ganger (5–29 %) | I 2 tilstander |
| ACTA1actin alpha 1, skeletal muscle | Noen ganger (5–29 %) | I 2 tilstander |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| AHCYadenosylhomocysteinase | Noen ganger (5–29 %) | I 2 tilstander |
| ANO5anoctamin 5 | Noen ganger (5–29 %) | I 1 tilstand |
| BMP6bone morphogenetic protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CCND1cyclin D1 | Noen ganger (5–29 %) | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Noen ganger (5–29 %) | I 1 tilstand |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| CRYABcrystallin alpha B | Noen ganger (5–29 %) | I 1 tilstand |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Noen ganger (5–29 %) | I 2 tilstander |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| DLDdihydrolipoamide dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| DLSTdihydrolipoamide S-succinyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Noen ganger (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| DSPdesmoplakin | Noen ganger (5–29 %) | I 1 tilstand |
| DSTdystonin | Noen ganger (5–29 %) | I 1 tilstand |
| EPAS1endothelial PAS domain protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FHfumarate hydratase | Noen ganger (5–29 %) | I 1 tilstand |
| FLAD1flavin adenine dinucleotide synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FLNCfilamin C | Noen ganger (5–29 %) | I 3 tilstander |
| GPC3glypican 3 | Noen ganger (5–29 %) | I 2 tilstander |
| GPC4glypican 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GSNgelsolin | Noen ganger (5–29 %) | I 2 tilstander |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GUK1guanylate kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HFEhomeostatic iron regulator | Noen ganger (5–29 %) | I 2 tilstander |
| HJVhemojuvelin BMP co-receptor | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Noen ganger (5–29 %) | I 2 tilstander |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Noen ganger (5–29 %) | I 1 tilstand |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Noen ganger (5–29 %) | I 2 tilstander |
| INSRinsulin receptor | Noen ganger (5–29 %) | I 1 tilstand |
| ITPAinosine triphosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| JAG2jagged canonical Notch ligand 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF1Bkinesin family member 1B | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Noen ganger (5–29 %) | I 2 tilstander |
| LAMA2laminin subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAXMYC associated transcriptional regulator X | Noen ganger (5–29 %) | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MMUTmethylmalonyl-CoA mutase | Noen ganger (5–29 %) | I 2 tilstander |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| MYOTmyotilin | Noen ganger (5–29 %) | I 2 tilstander |
| NAXDNAD(P)HX dehydratase | Noen ganger (5–29 %) | I 1 tilstand |
| NBASNBAS subunit of NRZ tethering complex | Noen ganger (5–29 %) | I 1 tilstand |
| NEBnebulin | Noen ganger (5–29 %) | I 3 tilstander |
| NF1neurofibromin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Noen ganger (5–29 %) | I 1 tilstand |
| NPPAnatriuretic peptide A | Noen ganger (5–29 %) | I 2 tilstander |
| PCCApropionyl-CoA carboxylase subunit alpha | Noen ganger (5–29 %) | I 2 tilstander |
| PCCBpropionyl-CoA carboxylase subunit beta | Noen ganger (5–29 %) | I 2 tilstander |
| PEX1peroxisomal biogenesis factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Noen ganger (5–29 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Noen ganger (5–29 %) | I 4 tilstander |
| RETret proto-oncogene | Noen ganger (5–29 %) | I 2 tilstander |
| RMND1required for meiotic nuclear division 1 homolog | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Noen ganger (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Noen ganger (5–29 %) | I 2 tilstander |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Noen ganger (5–29 %) | I 2 tilstander |
| SDHCsuccinate dehydrogenase complex subunit C | Noen ganger (5–29 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Noen ganger (5–29 %) | I 2 tilstander |
| SGCBsarcoglycan beta | Noen ganger (5–29 %) | I 1 tilstand |
| SLC19A2solute carrier family 19 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A11solute carrier family 25 member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TFR2transferrin receptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| TMEM127transmembrane protein 127 | Noen ganger (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TPM3tropomyosin 3 | Noen ganger (5–29 %) | I 2 tilstander |
| TREX1three prime repair exonuclease 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TRNT1tRNA nucleotidyl transferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Noen ganger (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| VCPvalosin containing protein | Noen ganger (5–29 %) | I 2 tilstander |
| VHLvon Hippel-Lindau tumor suppressor | Noen ganger (5–29 %) | I 3 tilstander |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 2 tilstander |
| WFS1wolframin ER transmembrane glycoprotein | Noen ganger (5–29 %) | I 2 tilstander |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Sjelden (1–4%) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Sjelden (1–4%) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sjelden (1–4%) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sjelden (1–4%) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Sjelden (1–4%) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Sjelden (1–4%) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Sjelden (1–4%) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Sjelden (1–4%) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Sjelden (1–4%) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Sjelden (1–4%) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Sjelden (1–4%) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Sjelden (1–4%) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Sjelden (1–4%) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sjelden (1–4%) | I 1 tilstand |
| CEP19centrosomal protein 19 | Sjelden (1–4%) | I 1 tilstand |
| CEP290centrosomal protein 290 | Sjelden (1–4%) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Sjelden (1–4%) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sjelden (1–4%) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sjelden (1–4%) | I 1 tilstand |
| FKRPfukutin related protein | Sjelden (1–4%) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Sjelden (1–4%) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Sjelden (1–4%) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Sjelden (1–4%) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Sjelden (1–4%) | I 1 tilstand |
| LDB3LIM domain binding 3 | Sjelden (1–4%) | I 2 tilstander |
| LZTFL1leucine zipper transcription factor like 1 | Sjelden (1–4%) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Sjelden (1–4%) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Sjelden (1–4%) | I 1 tilstand |
| NPHP1nephrocystin 1 | Sjelden (1–4%) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Sjelden (1–4%) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Sjelden (1–4%) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Sjelden (1–4%) | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Sjelden (1–4%) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Sjelden (1–4%) | I 1 tilstand |
| POMKprotein O-mannose kinase | Sjelden (1–4%) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Sjelden (1–4%) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Sjelden (1–4%) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Sjelden (1–4%) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Sjelden (1–4%) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Sjelden (1–4%) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Sjelden (1–4%) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Sjelden (1–4%) | I 1 tilstand |
| TNXBtenascin XB | Sjelden (1–4%) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Sjelden (1–4%) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Sjelden (1–4%) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Sjelden (1–4%) | I 1 tilstand |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ikke registrert | I 1 tilstand |
| AIPAHR interacting HSP90 co-chaperone | Ikke registrert | I 1 tilstand |
| ARSBarylsulfatase B | Ikke registrert | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registrert | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ikke registrert | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Ikke registrert | I 1 tilstand |
| DCAF8DDB1 and CUL4 associated factor 8 | Ikke registrert | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Ikke registrert | I 1 tilstand |
| GBE11,4-alpha-glucan branching enzyme 1 | Ikke registrert | I 1 tilstand |
| GYS1glycogen synthase 1 | Ikke registrert | I 1 tilstand |
| HAMPhepcidin antimicrobial peptide | Ikke registrert | I 1 tilstand |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Ikke registrert | I 1 tilstand |
| IGF2insulin like growth factor 2 | Ikke registrert | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ikke registrert | I 1 tilstand |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Ikke registrert | I 1 tilstand |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Ikke registrert | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Ikke registrert | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Ikke registrert | I 1 tilstand |
| MYO18Bmyosin XVIIIB | Ikke registrert | I 1 tilstand |
| NEU1neuraminidase 1 | Ikke registrert | I 1 tilstand |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Ikke registrert | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ikke registrert | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Ikke registrert | I 1 tilstand |
| SLC40A1solute carrier family 40 member 1 | Ikke registrert | I 1 tilstand |
| SQSTM1sequestosome 1 | Ikke registrert | I 1 tilstand |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Ikke registrert | I 1 tilstand |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Ikke registrert | I 1 tilstand |
| TTNtitin | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.17-8666dff2.
AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker