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Træk
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.
Resumé
- Kropssystem
- Abnormality of the cardiovascular system
Disease of the heart muscleHP:0001638
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Bestil min Genome Test250 gener knyttet til Disease of the heart muscle
Ændringer i disse gener forårsager sjældne tilstande, hvor Disease of the heart muscle ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Altid | I 2 tilstande |
| C1QBPcomplement C1q binding protein | Altid | I 1 tilstand |
| DAND5DAN domain BMP antagonist family member 5 | Altid | I 1 tilstand |
| DNM1Ldynamin 1L | Altid | I 1 tilstand |
| GATCglutamyl-tRNA amidotransferase subunit C | Altid | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Altid | I 2 tilstande |
| LMNAlamin A/C | Altid | I 2 tilstande |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Altid | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Altid | I 3 tilstande |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Altid | I 2 tilstande |
| SGCAsarcoglycan alpha | Altid | I 1 tilstand |
| TRIM63tripartite motif containing 63 | Altid | I 1 tilstand |
| DMDdystrophin | Meget ofte (80–99 %) | I 3 tilstande |
| EPG5ectopic P-granules 5 autophagy tethering factor | Meget ofte (80–99 %) | I 2 tilstande |
| IDUAalpha-L-iduronidase | Meget ofte (80–99 %) | I 3 tilstande |
| JUPjunction plakoglobin | Meget ofte (80–99 %) | I 2 tilstande |
| LTBP4latent transforming growth factor beta binding protein 4 | Meget ofte (80–99 %) | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Meget ofte (80–99 %) | I 2 tilstande |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Meget ofte (80–99 %) | I 1 tilstand |
| SLC25A20solute carrier family 25 member 20 | Meget ofte (80–99 %) | I 2 tilstande |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| 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 tilstande |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ofte (30–79 %) | I 1 tilstand |
| MYPNmyopalladin | Ofte (30–79 %) | I 2 tilstande |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Ofte (30–79 %) | I 3 tilstande |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACADSacyl-CoA dehydrogenase short chain | Nogle gange (5–29 %) | I 2 tilstande |
| ACTA1actin alpha 1, skeletal muscle | Nogle gange (5–29 %) | I 2 tilstande |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| AHCYadenosylhomocysteinase | Nogle gange (5–29 %) | I 2 tilstande |
| ANO5anoctamin 5 | Nogle gange (5–29 %) | I 1 tilstand |
| BMP6bone morphogenetic protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CCND1cyclin D1 | Nogle gange (5–29 %) | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Nogle gange (5–29 %) | I 1 tilstand |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| CRYABcrystallin alpha B | Nogle gange (5–29 %) | I 1 tilstand |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Nogle gange (5–29 %) | I 2 tilstande |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| DLDdihydrolipoamide dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| DLSTdihydrolipoamide S-succinyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Nogle gange (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| DSPdesmoplakin | Nogle gange (5–29 %) | I 1 tilstand |
| DSTdystonin | Nogle gange (5–29 %) | I 1 tilstand |
| EPAS1endothelial PAS domain protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| FHfumarate hydratase | Nogle gange (5–29 %) | I 1 tilstand |
| FLAD1flavin adenine dinucleotide synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FLNCfilamin C | Nogle gange (5–29 %) | I 3 tilstande |
| GPC3glypican 3 | Nogle gange (5–29 %) | I 2 tilstande |
| GPC4glypican 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GSNgelsolin | Nogle gange (5–29 %) | I 2 tilstande |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GUK1guanylate kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HFEhomeostatic iron regulator | Nogle gange (5–29 %) | I 2 tilstande |
| HJVhemojuvelin BMP co-receptor | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Nogle gange (5–29 %) | I 2 tilstande |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Nogle gange (5–29 %) | I 1 tilstand |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Nogle gange (5–29 %) | I 2 tilstande |
| INSRinsulin receptor | Nogle gange (5–29 %) | I 1 tilstand |
| ITPAinosine triphosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| JAG2jagged canonical Notch ligand 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF1Bkinesin family member 1B | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 2 tilstande |
| LAMA2laminin subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAXMYC associated transcriptional regulator X | Nogle gange (5–29 %) | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MMUTmethylmalonyl-CoA mutase | Nogle gange (5–29 %) | I 2 tilstande |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MYOTmyotilin | Nogle gange (5–29 %) | I 2 tilstande |
| NAXDNAD(P)HX dehydratase | Nogle gange (5–29 %) | I 1 tilstand |
| NBASNBAS subunit of NRZ tethering complex | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 3 tilstande |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Nogle gange (5–29 %) | I 1 tilstand |
| NPPAnatriuretic peptide A | Nogle gange (5–29 %) | I 2 tilstande |
| PCCApropionyl-CoA carboxylase subunit alpha | Nogle gange (5–29 %) | I 2 tilstande |
| PCCBpropionyl-CoA carboxylase subunit beta | Nogle gange (5–29 %) | I 2 tilstande |
| PEX1peroxisomal biogenesis factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Nogle gange (5–29 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Nogle gange (5–29 %) | I 4 tilstande |
| RETret proto-oncogene | Nogle gange (5–29 %) | I 2 tilstande |
| RMND1required for meiotic nuclear division 1 homolog | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Nogle gange (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Nogle gange (5–29 %) | I 2 tilstande |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Nogle gange (5–29 %) | I 2 tilstande |
| SDHCsuccinate dehydrogenase complex subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Nogle gange (5–29 %) | I 2 tilstande |
| SGCBsarcoglycan beta | Nogle gange (5–29 %) | I 1 tilstand |
| SLC19A2solute carrier family 19 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A11solute carrier family 25 member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TFR2transferrin receptor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM127transmembrane protein 127 | Nogle gange (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TPM3tropomyosin 3 | Nogle gange (5–29 %) | I 2 tilstande |
| TREX1three prime repair exonuclease 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TRNT1tRNA nucleotidyl transferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Nogle gange (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| VCPvalosin containing protein | Nogle gange (5–29 %) | I 2 tilstande |
| VHLvon Hippel-Lindau tumor suppressor | Nogle gange (5–29 %) | I 3 tilstande |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 2 tilstande |
| WFS1wolframin ER transmembrane glycoprotein | Nogle gange (5–29 %) | I 2 tilstande |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Sjældent (1–4%) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Sjældent (1–4%) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sjældent (1–4%) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sjældent (1–4%) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Sjældent (1–4%) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Sjældent (1–4%) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Sjældent (1–4%) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Sjældent (1–4%) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Sjældent (1–4%) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Sjældent (1–4%) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Sjældent (1–4%) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Sjældent (1–4%) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Sjældent (1–4%) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sjældent (1–4%) | I 1 tilstand |
| CEP19centrosomal protein 19 | Sjældent (1–4%) | I 1 tilstand |
| CEP290centrosomal protein 290 | Sjældent (1–4%) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Sjældent (1–4%) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sjældent (1–4%) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sjældent (1–4%) | I 1 tilstand |
| FKRPfukutin related protein | Sjældent (1–4%) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Sjældent (1–4%) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Sjældent (1–4%) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Sjældent (1–4%) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Sjældent (1–4%) | I 1 tilstand |
| LDB3LIM domain binding 3 | Sjældent (1–4%) | I 2 tilstande |
| LZTFL1leucine zipper transcription factor like 1 | Sjældent (1–4%) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Sjældent (1–4%) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Sjældent (1–4%) | I 1 tilstand |
| NPHP1nephrocystin 1 | Sjældent (1–4%) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Sjældent (1–4%) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Sjældent (1–4%) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Sjældent (1–4%) | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Sjældent (1–4%) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Sjældent (1–4%) | I 1 tilstand |
| POMKprotein O-mannose kinase | Sjældent (1–4%) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Sjældent (1–4%) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Sjældent (1–4%) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Sjældent (1–4%) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Sjældent (1–4%) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Sjældent (1–4%) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Sjældent (1–4%) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Sjældent (1–4%) | I 1 tilstand |
| TNXBtenascin XB | Sjældent (1–4%) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Sjældent (1–4%) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Sjældent (1–4%) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Sjældent (1–4%) | I 1 tilstand |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ikke registreret | I 1 tilstand |
| AIPAHR interacting HSP90 co-chaperone | Ikke registreret | I 1 tilstand |
| ARSBarylsulfatase B | Ikke registreret | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registreret | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ikke registreret | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Ikke registreret | I 1 tilstand |
| DCAF8DDB1 and CUL4 associated factor 8 | Ikke registreret | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Ikke registreret | I 1 tilstand |
| GBE11,4-alpha-glucan branching enzyme 1 | Ikke registreret | I 1 tilstand |
| GYS1glycogen synthase 1 | Ikke registreret | I 1 tilstand |
| HAMPhepcidin antimicrobial peptide | Ikke registreret | I 1 tilstand |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Ikke registreret | I 1 tilstand |
| IGF2insulin like growth factor 2 | Ikke registreret | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ikke registreret | I 1 tilstand |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Ikke registreret | I 1 tilstand |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Ikke registreret | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Ikke registreret | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Ikke registreret | I 1 tilstand |
| MYO18Bmyosin XVIIIB | Ikke registreret | I 1 tilstand |
| NEU1neuraminidase 1 | Ikke registreret | I 1 tilstand |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Ikke registreret | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ikke registreret | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Ikke registreret | I 1 tilstand |
| SLC40A1solute carrier family 40 member 1 | Ikke registreret | I 1 tilstand |
| SQSTM1sequestosome 1 | Ikke registreret | I 1 tilstand |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Ikke registreret | I 1 tilstand |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Ikke registreret | I 1 tilstand |
| TTNtitin | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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