Trait
Disease of the heart muscle
Clinical name: 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.
Summary
- Body system
- Abnormality of the cardiovascular system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test250 genes linked to Disease of the heart muscle
Changes in these genes cause rare conditions in which Disease of the heart muscle is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Always | In 2 conditions |
| C1QBPcomplement C1q binding protein | Always | In 1 condition |
| DAND5DAN domain BMP antagonist family member 5 | Always | In 1 condition |
| DNM1Ldynamin 1L | Always | In 1 condition |
| GATCglutamyl-tRNA amidotransferase subunit C | Always | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Always | In 2 conditions |
| LMNAlamin A/C | Always | In 2 conditions |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Always | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Always | In 3 conditions |
| RFC4replication factor C subunit 4 | Always | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Always | In 2 conditions |
| SGCAsarcoglycan alpha | Always | In 1 condition |
| TRIM63tripartite motif containing 63 | Always | In 1 condition |
| DMDdystrophin | Very often (80–99%) | In 3 conditions |
| EPG5ectopic P-granules 5 autophagy tethering factor | Very often (80–99%) | In 2 conditions |
| IDUAalpha-L-iduronidase | Very often (80–99%) | In 3 conditions |
| JUPjunction plakoglobin | Very often (80–99%) | In 2 conditions |
| LTBP4latent transforming growth factor beta binding protein 4 | Very often (80–99%) | In 1 condition |
| PHYHphytanoyl-CoA 2-hydroxylase | Very often (80–99%) | In 2 conditions |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Very often (80–99%) | In 1 condition |
| SLC25A20solute carrier family 25 member 20 | Very often (80–99%) | In 2 conditions |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Often (30–79%) | In 1 condition |
| ADCY5adenylate cyclase 5 | Often (30–79%) | In 2 conditions |
| APOA1apolipoprotein A1 | Often (30–79%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Often (30–79%) | In 1 condition |
| CPT2carnitine palmitoyltransferase 2 | Often (30–79%) | In 2 conditions |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Often (30–79%) | In 1 condition |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Often (30–79%) | In 1 condition |
| EMILIN1elastin microfibril interfacer 1 | Often (30–79%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 2 conditions |
| FXNfrataxin | Often (30–79%) | In 1 condition |
| GLB1galactosidase beta 1 | Often (30–79%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Often (30–79%) | In 3 conditions |
| GUSBglucuronidase beta | Often (30–79%) | In 1 condition |
| GYG1glycogenin 1 | Often (30–79%) | In 1 condition |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Often (30–79%) | In 2 conditions |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Often (30–79%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Often (30–79%) | In 1 condition |
Show 210 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| MAP2K1mitogen-activated protein kinase kinase 1 | Often (30–79%) | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Often (30–79%) | In 1 condition |
| MED12mediator complex subunit 12 | Often (30–79%) | In 1 condition |
| MLYCDmalonyl-CoA decarboxylase | Often (30–79%) | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Often (30–79%) | In 3 conditions |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Often (30–79%) | In 1 condition |
| MYPNmyopalladin | Often (30–79%) | In 2 conditions |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Often (30–79%) | In 3 conditions |
| POLGDNA polymerase gamma, catalytic subunit | Often (30–79%) | In 2 conditions |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Often (30–79%) | In 1 condition |
| RRM1ribonucleotide reductase catalytic subunit M1 | Often (30–79%) | In 1 condition |
| SLC22A5solute carrier family 22 member 5 | Often (30–79%) | In 1 condition |
| TK2thymidine kinase 2 | Often (30–79%) | In 1 condition |
| TOP3ADNA topoisomerase III alpha | Often (30–79%) | In 1 condition |
| TRIP4thyroid hormone receptor interactor 4 | Often (30–79%) | In 1 condition |
| TTRtransthyretin | Often (30–79%) | In 2 conditions |
| VAC14VAC14 component of PIKFYVE complex | Often (30–79%) | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| ACADSacyl-CoA dehydrogenase short chain | Sometimes (5–29%) | In 2 conditions |
| ACTA1actin alpha 1, skeletal muscle | Sometimes (5–29%) | In 2 conditions |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| AHCYadenosylhomocysteinase | Sometimes (5–29%) | In 2 conditions |
| ANO5anoctamin 5 | Sometimes (5–29%) | In 1 condition |
| BMP6bone morphogenetic protein 6 | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CCND1cyclin D1 | Sometimes (5–29%) | In 1 condition |
| CISD2CDGSH iron sulfur domain 2 | Sometimes (5–29%) | In 1 condition |
| CLPBClpB family mitochondrial disaggregase | Sometimes (5–29%) | In 1 condition |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Sometimes (5–29%) | In 1 condition |
| CRYABcrystallin alpha B | Sometimes (5–29%) | In 1 condition |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Sometimes (5–29%) | In 2 conditions |
| DBR1debranching RNA lariats 1 | Sometimes (5–29%) | In 1 condition |
| DDX3XDEAD-box helicase 3 X-linked | Sometimes (5–29%) | In 1 condition |
| DLDdihydrolipoamide dehydrogenase | Sometimes (5–29%) | In 1 condition |
| DLSTdihydrolipoamide S-succinyltransferase | Sometimes (5–29%) | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Sometimes (5–29%) | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| DSPdesmoplakin | Sometimes (5–29%) | In 1 condition |
| DSTdystonin | Sometimes (5–29%) | In 1 condition |
| EPAS1endothelial PAS domain protein 1 | Sometimes (5–29%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| FHfumarate hydratase | Sometimes (5–29%) | In 1 condition |
| FLAD1flavin adenine dinucleotide synthetase 1 | Sometimes (5–29%) | In 1 condition |
| FLNCfilamin C | Sometimes (5–29%) | In 3 conditions |
| GPC3glypican 3 | Sometimes (5–29%) | In 2 conditions |
| GPC4glypican 4 | Sometimes (5–29%) | In 1 condition |
| GSNgelsolin | Sometimes (5–29%) | In 2 conditions |
| GTF2E2general transcription factor IIE subunit 2 | Sometimes (5–29%) | In 1 condition |
| GTF2H5general transcription factor IIH subunit 5 | Sometimes (5–29%) | In 1 condition |
| GUK1guanylate kinase 1 | Sometimes (5–29%) | In 1 condition |
| HFEhomeostatic iron regulator | Sometimes (5–29%) | In 2 conditions |
| HJVhemojuvelin BMP co-receptor | Sometimes (5–29%) | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Sometimes (5–29%) | In 2 conditions |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Sometimes (5–29%) | In 1 condition |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Sometimes (5–29%) | In 2 conditions |
| INSRinsulin receptor | Sometimes (5–29%) | In 1 condition |
| ITPAinosine triphosphatase | Sometimes (5–29%) | In 1 condition |
| JAG2jagged canonical Notch ligand 2 | Sometimes (5–29%) | In 1 condition |
| KBTBD13kelch repeat and BTB domain containing 13 | Sometimes (5–29%) | In 1 condition |
| KIF1Bkinesin family member 1B | Sometimes (5–29%) | In 1 condition |
| KLHL41kelch like family member 41 | Sometimes (5–29%) | In 2 conditions |
| LAMA2laminin subunit alpha 2 | Sometimes (5–29%) | In 1 condition |
| MAXMYC associated transcriptional regulator X | Sometimes (5–29%) | In 1 condition |
| MDH2malate dehydrogenase 2 | Sometimes (5–29%) | In 1 condition |
| MMUTmethylmalonyl-CoA mutase | Sometimes (5–29%) | In 2 conditions |
| MPLKIPM-phase specific PLK1 interacting protein | Sometimes (5–29%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sometimes (5–29%) | In 1 condition |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Sometimes (5–29%) | In 1 condition |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Sometimes (5–29%) | In 1 condition |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Sometimes (5–29%) | In 1 condition |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Sometimes (5–29%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sometimes (5–29%) | In 1 condition |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sometimes (5–29%) | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sometimes (5–29%) | In 1 condition |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sometimes (5–29%) | In 1 condition |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Sometimes (5–29%) | In 1 condition |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Sometimes (5–29%) | In 1 condition |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Sometimes (5–29%) | In 1 condition |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Sometimes (5–29%) | In 1 condition |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Sometimes (5–29%) | In 1 condition |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sometimes (5–29%) | In 1 condition |
| MYOTmyotilin | Sometimes (5–29%) | In 2 conditions |
| NAXDNAD(P)HX dehydratase | Sometimes (5–29%) | In 1 condition |
| NBASNBAS subunit of NRZ tethering complex | Sometimes (5–29%) | In 1 condition |
| NEBnebulin | Sometimes (5–29%) | In 3 conditions |
| NF1neurofibromin 1 | Sometimes (5–29%) | In 1 condition |
| NFU1NFU1 iron-sulfur cluster scaffold | Sometimes (5–29%) | In 1 condition |
| NPPAnatriuretic peptide A | Sometimes (5–29%) | In 2 conditions |
| PCCApropionyl-CoA carboxylase subunit alpha | Sometimes (5–29%) | In 2 conditions |
| PCCBpropionyl-CoA carboxylase subunit beta | Sometimes (5–29%) | In 2 conditions |
| PEX1peroxisomal biogenesis factor 1 | Sometimes (5–29%) | In 1 condition |
| PEX10peroxisomal biogenesis factor 10 | Sometimes (5–29%) | In 1 condition |
| PEX11Bperoxisomal biogenesis factor 11 beta | Sometimes (5–29%) | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Sometimes (5–29%) | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Sometimes (5–29%) | In 1 condition |
| PEX14peroxisomal biogenesis factor 14 | Sometimes (5–29%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Sometimes (5–29%) | In 1 condition |
| PEX19peroxisomal biogenesis factor 19 | Sometimes (5–29%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Sometimes (5–29%) | In 1 condition |
| PEX26peroxisomal biogenesis factor 26 | Sometimes (5–29%) | In 1 condition |
| PEX3peroxisomal biogenesis factor 3 | Sometimes (5–29%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Sometimes (5–29%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Sometimes (5–29%) | In 1 condition |
| PMM2phosphomannomutase 2 | Sometimes (5–29%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Sometimes (5–29%) | In 4 conditions |
| RETret proto-oncogene | Sometimes (5–29%) | In 2 conditions |
| RMND1required for meiotic nuclear division 1 homolog | Sometimes (5–29%) | In 1 condition |
| RNASEH1ribonuclease H1 | Sometimes (5–29%) | In 1 condition |
| RNF113Aring finger protein 113A | Sometimes (5–29%) | In 1 condition |
| RPS6KA3ribosomal protein S6 kinase A3 | Sometimes (5–29%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sometimes (5–29%) | In 2 conditions |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Sometimes (5–29%) | In 1 condition |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Sometimes (5–29%) | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Sometimes (5–29%) | In 2 conditions |
| SDHCsuccinate dehydrogenase complex subunit C | Sometimes (5–29%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Sometimes (5–29%) | In 2 conditions |
| SGCBsarcoglycan beta | Sometimes (5–29%) | In 1 condition |
| SLC19A2solute carrier family 19 member 2 | Sometimes (5–29%) | In 1 condition |
| SLC25A11solute carrier family 25 member 11 | Sometimes (5–29%) | In 1 condition |
| TARS1threonyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| TFR2transferrin receptor 2 | Sometimes (5–29%) | In 2 conditions |
| TMEM127transmembrane protein 127 | Sometimes (5–29%) | In 1 condition |
| TPM2tropomyosin 2 | Sometimes (5–29%) | In 1 condition |
| TPM3tropomyosin 3 | Sometimes (5–29%) | In 2 conditions |
| TREX1three prime repair exonuclease 1 | Sometimes (5–29%) | In 2 conditions |
| TRNT1tRNA nucleotidyl transferase 1 | Sometimes (5–29%) | In 1 condition |
| TWNKtwinkle mtDNA helicase | Sometimes (5–29%) | In 1 condition |
| USP9Xubiquitin specific peptidase 9 X-linked | Sometimes (5–29%) | In 1 condition |
| VCPvalosin containing protein | Sometimes (5–29%) | In 2 conditions |
| VHLvon Hippel-Lindau tumor suppressor | Sometimes (5–29%) | In 3 conditions |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 2 conditions |
| WFS1wolframin ER transmembrane glycoprotein | Sometimes (5–29%) | In 2 conditions |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Sometimes (5–29%) | In 1 condition |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Rarely (1–4%) | In 1 condition |
| ARL6ARF like GTPase 6 | Rarely (1–4%) | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Rarely (1–4%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Rarely (1–4%) | In 1 condition |
| BBIP1BBSome interacting protein 1 | Rarely (1–4%) | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Rarely (1–4%) | In 1 condition |
| BBS10Bardet-Biedl syndrome 10 | Rarely (1–4%) | In 1 condition |
| BBS12Bardet-Biedl syndrome 12 | Rarely (1–4%) | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Rarely (1–4%) | In 1 condition |
| BBS4Bardet-Biedl syndrome 4 | Rarely (1–4%) | In 1 condition |
| BBS5Bardet-Biedl syndrome 5 | Rarely (1–4%) | In 1 condition |
| BBS7Bardet-Biedl syndrome 7 | Rarely (1–4%) | In 1 condition |
| BBS9Bardet-Biedl syndrome 9 | Rarely (1–4%) | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Rarely (1–4%) | In 1 condition |
| CEP19centrosomal protein 19 | Rarely (1–4%) | In 1 condition |
| CEP290centrosomal protein 290 | Rarely (1–4%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Rarely (1–4%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Rarely (1–4%) | In 1 condition |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Rarely (1–4%) | In 1 condition |
| FKRPfukutin related protein | Rarely (1–4%) | In 1 condition |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Rarely (1–4%) | In 1 condition |
| IFT172intraflagellar transport 172 | Rarely (1–4%) | In 1 condition |
| IFT27intraflagellar transport 27 | Rarely (1–4%) | In 1 condition |
| IFT74intraflagellar transport 74 | Rarely (1–4%) | In 1 condition |
| LDB3LIM domain binding 3 | Rarely (1–4%) | In 2 conditions |
| LZTFL1leucine zipper transcription factor like 1 | Rarely (1–4%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Rarely (1–4%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Rarely (1–4%) | In 1 condition |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Rarely (1–4%) | In 1 condition |
| NPHP1nephrocystin 1 | Rarely (1–4%) | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Rarely (1–4%) | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Rarely (1–4%) | In 1 condition |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Rarely (1–4%) | In 1 condition |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Rarely (1–4%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Rarely (1–4%) | In 1 condition |
| POMKprotein O-mannose kinase | Rarely (1–4%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Rarely (1–4%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Rarely (1–4%) | In 1 condition |
| SCAPERS-phase cyclin A associated protein in the ER | Rarely (1–4%) | In 1 condition |
| SCLT1sodium channel and clathrin linker 1 | Rarely (1–4%) | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Rarely (1–4%) | In 1 condition |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Rarely (1–4%) | In 1 condition |
| SLC1A3solute carrier family 1 member 3 | Rarely (1–4%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Rarely (1–4%) | In 1 condition |
| TNXBtenascin XB | Rarely (1–4%) | In 1 condition |
| TRIM32tripartite motif containing 32 | Rarely (1–4%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Rarely (1–4%) | In 1 condition |
| WDPCPWD repeat containing planar cell polarity effector | Rarely (1–4%) | In 1 condition |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Not recorded | In 1 condition |
| AIPAHR interacting HSP90 co-chaperone | Not recorded | In 1 condition |
| ARSBarylsulfatase B | Not recorded | In 1 condition |
| BMP2bone morphogenetic protein 2 | Not recorded | In 1 condition |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Not recorded | In 1 condition |
| COX15cytochrome c oxidase assembly factor COX15 | Not recorded | In 1 condition |
| DCAF8DDB1 and CUL4 associated factor 8 | Not recorded | In 1 condition |
| FHL1four and a half LIM domains 1 | Not recorded | In 1 condition |
| GBE11,4-alpha-glucan branching enzyme 1 | Not recorded | In 1 condition |
| GYS1glycogen synthase 1 | Not recorded | In 1 condition |
| HAMPhepcidin antimicrobial peptide | Not recorded | In 1 condition |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Not recorded | In 1 condition |
| IGF2insulin like growth factor 2 | Not recorded | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Not recorded | In 1 condition |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Not recorded | In 1 condition |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Not recorded | In 1 condition |
| LZTR1leucine zipper like post translational regulator 1 | Not recorded | In 1 condition |
| MICU1mitochondrial calcium uptake 1 | Not recorded | In 1 condition |
| MYO18Bmyosin XVIIIB | Not recorded | In 1 condition |
| NEU1neuraminidase 1 | Not recorded | In 1 condition |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Not recorded | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Not recorded | In 1 condition |
| SCO2synthesis of cytochrome C oxidase 2 | Not recorded | In 1 condition |
| SLC40A1solute carrier family 40 member 1 | Not recorded | In 1 condition |
| SQSTM1sequestosome 1 | Not recorded | In 1 condition |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Not recorded | In 1 condition |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Not recorded | In 1 condition |
| TTNtitin | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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