Özellik
Disease of the heart muscle
Klinik adı: 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.
Özet
- Vücut sistemi
- Abnormality of the cardiovascular system
Referans genomGRCh38hg38
Gen ve varyant sayfalarındaki konumlar, bu tarayıcıda yaptığınız bu seçimi izler.
Read the genes linked to Disease of the heart muscle, and the rest of your genome, with one test.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi alDisease of the heart muscle ile ilişkili 250 gen
Bu genlerdeki değişiklikler, Disease of the heart muscle özelliğinin görüldüğü nadir durumlara yol açar. Bu özelliğe sahip çoğu kişide bu durumlardan hiçbiri yoktur; ayrıca bu listedeki bir gen, kimsenin kendi genomu hakkında bir şey söylemez.
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Her zaman | 2 durumda |
| C1QBPcomplement C1q binding protein | Her zaman | 1 durumda |
| DAND5DAN domain BMP antagonist family member 5 | Her zaman | 1 durumda |
| DNM1Ldynamin 1L | Her zaman | 1 durumda |
| GATCglutamyl-tRNA amidotransferase subunit C | Her zaman | 1 durumda |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Her zaman | 2 durumda |
| LMNAlamin A/C | Her zaman | 2 durumda |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Her zaman | 1 durumda |
| PEX7peroxisomal biogenesis factor 7 | Her zaman | 3 durumda |
| RFC4replication factor C subunit 4 | Her zaman | 1 durumda |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Her zaman | 2 durumda |
| SGCAsarcoglycan alpha | Her zaman | 1 durumda |
| TRIM63tripartite motif containing 63 | Her zaman | 1 durumda |
| DMDdystrophin | Çok sık (%80–99) | 3 durumda |
| EPG5ectopic P-granules 5 autophagy tethering factor | Çok sık (%80–99) | 2 durumda |
| IDUAalpha-L-iduronidase | Çok sık (%80–99) | 3 durumda |
| JUPjunction plakoglobin | Çok sık (%80–99) | 2 durumda |
| LTBP4latent transforming growth factor beta binding protein 4 | Çok sık (%80–99) | 1 durumda |
| PHYHphytanoyl-CoA 2-hydroxylase | Çok sık (%80–99) | 2 durumda |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Çok sık (%80–99) | 1 durumda |
| SLC25A20solute carrier family 25 member 20 | Çok sık (%80–99) | 2 durumda |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Sık (%30–79) | 1 durumda |
| ADCY5adenylate cyclase 5 | Sık (%30–79) | 2 durumda |
| APOA1apolipoprotein A1 | Sık (%30–79) | 1 durumda |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sık (%30–79) | 1 durumda |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Sık (%30–79) | 1 durumda |
| CPT2carnitine palmitoyltransferase 2 | Sık (%30–79) | 2 durumda |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Sık (%30–79) | 1 durumda |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Sık (%30–79) | 1 durumda |
| EMILIN1elastin microfibril interfacer 1 | Sık (%30–79) | 1 durumda |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sık (%30–79) | 2 durumda |
| FXNfrataxin | Sık (%30–79) | 1 durumda |
| GLB1galactosidase beta 1 | Sık (%30–79) | 1 durumda |
| GMPPBGDP-mannose pyrophosphorylase B | Sık (%30–79) | 3 durumda |
| GUSBglucuronidase beta | Sık (%30–79) | 1 durumda |
| GYG1glycogenin 1 | Sık (%30–79) | 1 durumda |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Sık (%30–79) | 2 durumda |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Sık (%30–79) | 1 durumda |
| KRASKRas proto-oncogene, GTPase | Sık (%30–79) | 1 durumda |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Sık (%30–79) | 1 durumda |
210 gen daha göster
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| MAP2K1mitogen-activated protein kinase kinase 1 | Sık (%30–79) | 1 durumda |
| MAP2K2mitogen-activated protein kinase kinase 2 | Sık (%30–79) | 1 durumda |
| MED12mediator complex subunit 12 | Sık (%30–79) | 1 durumda |
| MLYCDmalonyl-CoA decarboxylase | Sık (%30–79) | 1 durumda |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sık (%30–79) | 3 durumda |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Sık (%30–79) | 1 durumda |
| MYPNmyopalladin | Sık (%30–79) | 2 durumda |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Sık (%30–79) | 3 durumda |
| POLGDNA polymerase gamma, catalytic subunit | Sık (%30–79) | 2 durumda |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Sık (%30–79) | 1 durumda |
| RRM1ribonucleotide reductase catalytic subunit M1 | Sık (%30–79) | 1 durumda |
| SLC22A5solute carrier family 22 member 5 | Sık (%30–79) | 1 durumda |
| TK2thymidine kinase 2 | Sık (%30–79) | 1 durumda |
| TOP3ADNA topoisomerase III alpha | Sık (%30–79) | 1 durumda |
| TRIP4thyroid hormone receptor interactor 4 | Sık (%30–79) | 1 durumda |
| TTRtransthyretin | Sık (%30–79) | 2 durumda |
| VAC14VAC14 component of PIKFYVE complex | Sık (%30–79) | 1 durumda |
| AARS1alanyl-tRNA synthetase 1 | Bazen (%5–29) | 1 durumda |
| ACADSacyl-CoA dehydrogenase short chain | Bazen (%5–29) | 2 durumda |
| ACTA1actin alpha 1, skeletal muscle | Bazen (%5–29) | 2 durumda |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Bazen (%5–29) | 1 durumda |
| AHCYadenosylhomocysteinase | Bazen (%5–29) | 2 durumda |
| ANO5anoctamin 5 | Bazen (%5–29) | 1 durumda |
| BMP6bone morphogenetic protein 6 | Bazen (%5–29) | 1 durumda |
| CARS1cysteinyl-tRNA synthetase 1 | Bazen (%5–29) | 1 durumda |
| CCND1cyclin D1 | Bazen (%5–29) | 1 durumda |
| CISD2CDGSH iron sulfur domain 2 | Bazen (%5–29) | 1 durumda |
| CLPBClpB family mitochondrial disaggregase | Bazen (%5–29) | 1 durumda |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Bazen (%5–29) | 1 durumda |
| CRYABcrystallin alpha B | Bazen (%5–29) | 1 durumda |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Bazen (%5–29) | 2 durumda |
| DBR1debranching RNA lariats 1 | Bazen (%5–29) | 1 durumda |
| DDX3XDEAD-box helicase 3 X-linked | Bazen (%5–29) | 1 durumda |
| DLDdihydrolipoamide dehydrogenase | Bazen (%5–29) | 1 durumda |
| DLSTdihydrolipoamide S-succinyltransferase | Bazen (%5–29) | 1 durumda |
| DNMT3ADNA methyltransferase 3 alpha | Bazen (%5–29) | 1 durumda |
| DOT1LDOT1 like histone lysine methyltransferase | Bazen (%5–29) | 1 durumda |
| DSPdesmoplakin | Bazen (%5–29) | 1 durumda |
| DSTdystonin | Bazen (%5–29) | 1 durumda |
| EPAS1endothelial PAS domain protein 1 | Bazen (%5–29) | 1 durumda |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Bazen (%5–29) | 1 durumda |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Bazen (%5–29) | 1 durumda |
| FHfumarate hydratase | Bazen (%5–29) | 1 durumda |
| FLAD1flavin adenine dinucleotide synthetase 1 | Bazen (%5–29) | 1 durumda |
| FLNCfilamin C | Bazen (%5–29) | 3 durumda |
| GPC3glypican 3 | Bazen (%5–29) | 2 durumda |
| GPC4glypican 4 | Bazen (%5–29) | 1 durumda |
| GSNgelsolin | Bazen (%5–29) | 2 durumda |
| GTF2E2general transcription factor IIE subunit 2 | Bazen (%5–29) | 1 durumda |
| GTF2H5general transcription factor IIH subunit 5 | Bazen (%5–29) | 1 durumda |
| GUK1guanylate kinase 1 | Bazen (%5–29) | 1 durumda |
| HFEhomeostatic iron regulator | Bazen (%5–29) | 2 durumda |
| HJVhemojuvelin BMP co-receptor | Bazen (%5–29) | 1 durumda |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Bazen (%5–29) | 2 durumda |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Bazen (%5–29) | 1 durumda |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Bazen (%5–29) | 2 durumda |
| INSRinsulin receptor | Bazen (%5–29) | 1 durumda |
| ITPAinosine triphosphatase | Bazen (%5–29) | 1 durumda |
| JAG2jagged canonical Notch ligand 2 | Bazen (%5–29) | 1 durumda |
| KBTBD13kelch repeat and BTB domain containing 13 | Bazen (%5–29) | 1 durumda |
| KIF1Bkinesin family member 1B | Bazen (%5–29) | 1 durumda |
| KLHL41kelch like family member 41 | Bazen (%5–29) | 2 durumda |
| LAMA2laminin subunit alpha 2 | Bazen (%5–29) | 1 durumda |
| MAXMYC associated transcriptional regulator X | Bazen (%5–29) | 1 durumda |
| MDH2malate dehydrogenase 2 | Bazen (%5–29) | 1 durumda |
| MMUTmethylmalonyl-CoA mutase | Bazen (%5–29) | 2 durumda |
| MPLKIPM-phase specific PLK1 interacting protein | Bazen (%5–29) | 1 durumda |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Bazen (%5–29) | 1 durumda |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Bazen (%5–29) | 1 durumda |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Bazen (%5–29) | 1 durumda |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Bazen (%5–29) | 1 durumda |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Bazen (%5–29) | 1 durumda |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Bazen (%5–29) | 1 durumda |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Bazen (%5–29) | 1 durumda |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Bazen (%5–29) | 1 durumda |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Bazen (%5–29) | 1 durumda |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Bazen (%5–29) | 1 durumda |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Bazen (%5–29) | 1 durumda |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Bazen (%5–29) | 1 durumda |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Bazen (%5–29) | 1 durumda |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Bazen (%5–29) | 1 durumda |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Bazen (%5–29) | 1 durumda |
| MYOTmyotilin | Bazen (%5–29) | 2 durumda |
| NAXDNAD(P)HX dehydratase | Bazen (%5–29) | 1 durumda |
| NBASNBAS subunit of NRZ tethering complex | Bazen (%5–29) | 1 durumda |
| NEBnebulin | Bazen (%5–29) | 3 durumda |
| NF1neurofibromin 1 | Bazen (%5–29) | 1 durumda |
| NFU1NFU1 iron-sulfur cluster scaffold | Bazen (%5–29) | 1 durumda |
| NPPAnatriuretic peptide A | Bazen (%5–29) | 2 durumda |
| PCCApropionyl-CoA carboxylase subunit alpha | Bazen (%5–29) | 2 durumda |
| PCCBpropionyl-CoA carboxylase subunit beta | Bazen (%5–29) | 2 durumda |
| PEX1peroxisomal biogenesis factor 1 | Bazen (%5–29) | 1 durumda |
| PEX10peroxisomal biogenesis factor 10 | Bazen (%5–29) | 1 durumda |
| PEX11Bperoxisomal biogenesis factor 11 beta | Bazen (%5–29) | 1 durumda |
| PEX12peroxisomal biogenesis factor 12 | Bazen (%5–29) | 1 durumda |
| PEX13peroxisomal biogenesis factor 13 | Bazen (%5–29) | 1 durumda |
| PEX14peroxisomal biogenesis factor 14 | Bazen (%5–29) | 1 durumda |
| PEX16peroxisomal biogenesis factor 16 | Bazen (%5–29) | 1 durumda |
| PEX19peroxisomal biogenesis factor 19 | Bazen (%5–29) | 1 durumda |
| PEX2peroxisomal biogenesis factor 2 | Bazen (%5–29) | 1 durumda |
| PEX26peroxisomal biogenesis factor 26 | Bazen (%5–29) | 1 durumda |
| PEX3peroxisomal biogenesis factor 3 | Bazen (%5–29) | 1 durumda |
| PEX5peroxisomal biogenesis factor 5 | Bazen (%5–29) | 1 durumda |
| PEX6peroxisomal biogenesis factor 6 | Bazen (%5–29) | 1 durumda |
| PMM2phosphomannomutase 2 | Bazen (%5–29) | 1 durumda |
| POMT1protein O-mannosyltransferase 1 | Bazen (%5–29) | 4 durumda |
| RETret proto-oncogene | Bazen (%5–29) | 2 durumda |
| RMND1required for meiotic nuclear division 1 homolog | Bazen (%5–29) | 1 durumda |
| RNASEH1ribonuclease H1 | Bazen (%5–29) | 1 durumda |
| RNF113Aring finger protein 113A | Bazen (%5–29) | 1 durumda |
| RPS6KA3ribosomal protein S6 kinase A3 | Bazen (%5–29) | 1 durumda |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Bazen (%5–29) | 2 durumda |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Bazen (%5–29) | 1 durumda |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Bazen (%5–29) | 1 durumda |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Bazen (%5–29) | 2 durumda |
| SDHCsuccinate dehydrogenase complex subunit C | Bazen (%5–29) | 1 durumda |
| SDHDsuccinate dehydrogenase complex subunit D | Bazen (%5–29) | 2 durumda |
| SGCBsarcoglycan beta | Bazen (%5–29) | 1 durumda |
| SLC19A2solute carrier family 19 member 2 | Bazen (%5–29) | 1 durumda |
| SLC25A11solute carrier family 25 member 11 | Bazen (%5–29) | 1 durumda |
| TARS1threonyl-tRNA synthetase 1 | Bazen (%5–29) | 1 durumda |
| TFR2transferrin receptor 2 | Bazen (%5–29) | 2 durumda |
| TMEM127transmembrane protein 127 | Bazen (%5–29) | 1 durumda |
| TPM2tropomyosin 2 | Bazen (%5–29) | 1 durumda |
| TPM3tropomyosin 3 | Bazen (%5–29) | 2 durumda |
| TREX1three prime repair exonuclease 1 | Bazen (%5–29) | 2 durumda |
| TRNT1tRNA nucleotidyl transferase 1 | Bazen (%5–29) | 1 durumda |
| TWNKtwinkle mtDNA helicase | Bazen (%5–29) | 1 durumda |
| USP9Xubiquitin specific peptidase 9 X-linked | Bazen (%5–29) | 1 durumda |
| VCPvalosin containing protein | Bazen (%5–29) | 2 durumda |
| VHLvon Hippel-Lindau tumor suppressor | Bazen (%5–29) | 3 durumda |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Bazen (%5–29) | 2 durumda |
| WFS1wolframin ER transmembrane glycoprotein | Bazen (%5–29) | 2 durumda |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Bazen (%5–29) | 1 durumda |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Seyrek (%1–4) | 1 durumda |
| ARL6ARF like GTPase 6 | Seyrek (%1–4) | 1 durumda |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Seyrek (%1–4) | 1 durumda |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Seyrek (%1–4) | 1 durumda |
| BBIP1BBSome interacting protein 1 | Seyrek (%1–4) | 1 durumda |
| BBS1Bardet-Biedl syndrome 1 | Seyrek (%1–4) | 1 durumda |
| BBS10Bardet-Biedl syndrome 10 | Seyrek (%1–4) | 1 durumda |
| BBS12Bardet-Biedl syndrome 12 | Seyrek (%1–4) | 1 durumda |
| BBS2Bardet-Biedl syndrome 2 | Seyrek (%1–4) | 1 durumda |
| BBS4Bardet-Biedl syndrome 4 | Seyrek (%1–4) | 1 durumda |
| BBS5Bardet-Biedl syndrome 5 | Seyrek (%1–4) | 1 durumda |
| BBS7Bardet-Biedl syndrome 7 | Seyrek (%1–4) | 1 durumda |
| BBS9Bardet-Biedl syndrome 9 | Seyrek (%1–4) | 1 durumda |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Seyrek (%1–4) | 1 durumda |
| CEP19centrosomal protein 19 | Seyrek (%1–4) | 1 durumda |
| CEP290centrosomal protein 290 | Seyrek (%1–4) | 1 durumda |
| CFAP418cilia and flagella associated protein 418 | Seyrek (%1–4) | 1 durumda |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Seyrek (%1–4) | 1 durumda |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Seyrek (%1–4) | 1 durumda |
| FKRPfukutin related protein | Seyrek (%1–4) | 1 durumda |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Seyrek (%1–4) | 1 durumda |
| IFT172intraflagellar transport 172 | Seyrek (%1–4) | 1 durumda |
| IFT27intraflagellar transport 27 | Seyrek (%1–4) | 1 durumda |
| IFT74intraflagellar transport 74 | Seyrek (%1–4) | 1 durumda |
| LDB3LIM domain binding 3 | Seyrek (%1–4) | 2 durumda |
| LZTFL1leucine zipper transcription factor like 1 | Seyrek (%1–4) | 1 durumda |
| MKKSMKKS centrosomal shuttling protein | Seyrek (%1–4) | 1 durumda |
| MKS1MKS transition zone complex subunit 1 | Seyrek (%1–4) | 1 durumda |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Seyrek (%1–4) | 1 durumda |
| NPHP1nephrocystin 1 | Seyrek (%1–4) | 1 durumda |
| OPA1OPA1 mitochondrial dynamin like GTPase | Seyrek (%1–4) | 1 durumda |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Seyrek (%1–4) | 1 durumda |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Seyrek (%1–4) | 1 durumda |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Seyrek (%1–4) | 1 durumda |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Seyrek (%1–4) | 1 durumda |
| POMKprotein O-mannose kinase | Seyrek (%1–4) | 1 durumda |
| POMT2protein O-mannosyltransferase 2 | Seyrek (%1–4) | 1 durumda |
| RHOBTB2Rho related BTB domain containing 2 | Seyrek (%1–4) | 1 durumda |
| SCAPERS-phase cyclin A associated protein in the ER | Seyrek (%1–4) | 1 durumda |
| SCLT1sodium channel and clathrin linker 1 | Seyrek (%1–4) | 1 durumda |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Seyrek (%1–4) | 1 durumda |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Seyrek (%1–4) | 1 durumda |
| SLC1A3solute carrier family 1 member 3 | Seyrek (%1–4) | 1 durumda |
| SLC2A1solute carrier family 2 member 1 | Seyrek (%1–4) | 1 durumda |
| TNXBtenascin XB | Seyrek (%1–4) | 1 durumda |
| TRIM32tripartite motif containing 32 | Seyrek (%1–4) | 1 durumda |
| TTC8tetratricopeptide repeat domain 8 | Seyrek (%1–4) | 1 durumda |
| WDPCPWD repeat containing planar cell polarity effector | Seyrek (%1–4) | 1 durumda |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Kaydedilmedi | 1 durumda |
| AIPAHR interacting HSP90 co-chaperone | Kaydedilmedi | 1 durumda |
| ARSBarylsulfatase B | Kaydedilmedi | 1 durumda |
| BMP2bone morphogenetic protein 2 | Kaydedilmedi | 1 durumda |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Kaydedilmedi | 1 durumda |
| COX15cytochrome c oxidase assembly factor COX15 | Kaydedilmedi | 1 durumda |
| DCAF8DDB1 and CUL4 associated factor 8 | Kaydedilmedi | 1 durumda |
| FHL1four and a half LIM domains 1 | Kaydedilmedi | 1 durumda |
| GBE11,4-alpha-glucan branching enzyme 1 | Kaydedilmedi | 1 durumda |
| GYS1glycogen synthase 1 | Kaydedilmedi | 1 durumda |
| HAMPhepcidin antimicrobial peptide | Kaydedilmedi | 1 durumda |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Kaydedilmedi | 1 durumda |
| IGF2insulin like growth factor 2 | Kaydedilmedi | 1 durumda |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kaydedilmedi | 1 durumda |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Kaydedilmedi | 1 durumda |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Kaydedilmedi | 1 durumda |
| LZTR1leucine zipper like post translational regulator 1 | Kaydedilmedi | 1 durumda |
| MICU1mitochondrial calcium uptake 1 | Kaydedilmedi | 1 durumda |
| MYO18Bmyosin XVIIIB | Kaydedilmedi | 1 durumda |
| NEU1neuraminidase 1 | Kaydedilmedi | 1 durumda |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Kaydedilmedi | 1 durumda |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Kaydedilmedi | 1 durumda |
| SCO2synthesis of cytochrome C oxidase 2 | Kaydedilmedi | 1 durumda |
| SLC40A1solute carrier family 40 member 1 | Kaydedilmedi | 1 durumda |
| SQSTM1sequestosome 1 | Kaydedilmedi | 1 durumda |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Kaydedilmedi | 1 durumda |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Kaydedilmedi | 1 durumda |
| TTNtitin | Kaydedilmedi | 1 durumda |
Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.
Daha dar özellikler
Daha geniş özellikler
Bilgilerin kaynağı
- Human Phenotype Ontology, 2026-09-01 sürümü: özellik, adları, tanımı ve buna bağlı genler. Ayrıntılar için hpo.jax.org adresine bakın.
- Veri sürümü 2026.10.16-c6eea6bf.
Tek bir test. Ömür boyu yanıtlar.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde