Trait
Muscle tissue disease
Clinical name: Myopathy
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Summary
- Also called
- Myopathic changes
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
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Get my Genome Test280 genes linked to Muscle tissue disease
Changes in these genes cause rare conditions in which Muscle tissue disease 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 |
|---|---|---|
| ADSS1adenylosuccinate synthase 1 | Always | In 1 condition |
| AMPD1adenosine monophosphate deaminase 1 | Always | In 1 condition |
| B4GALT1beta-1,4-galactosyltransferase 1 | Always | In 1 condition |
| CAV3caveolin 3 | Always | In 3 conditions |
| DNM1Ldynamin 1L | Always | In 2 conditions |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Always | In 2 conditions |
| FKBP14FKBP prolyl isomerase 14 | Always | In 2 conditions |
| GUK1guanylate kinase 1 | Always | In 1 condition |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Always | In 1 condition |
| LMNAlamin A/C | Always | In 8 conditions |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Always | In 1 condition |
| MYH2myosin heavy chain 2 | Always | In 1 condition |
| MYMKmyomaker, myoblast fusion factor | Always | In 2 conditions |
| MYOD1myogenic differentiation 1 | Always | In 1 condition |
| NDC1NDC1 transmembrane nucleoporin | Always | In 1 condition |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Always | In 1 condition |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Always | In 1 condition |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Always | In 2 conditions |
| RFC4replication factor C subunit 4 | Always | In 1 condition |
| RRM1ribonucleotide reductase catalytic subunit M1 | Always | In 2 conditions |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Always | In 3 conditions |
| SIL1SIL1 nucleotide exchange factor | Always | In 2 conditions |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Always | In 2 conditions |
| TNNT1troponin T1, slow skeletal type | Always | In 1 condition |
| TRIM63tripartite motif containing 63 | Always | In 1 condition |
| TTNtitin | Always | In 3 conditions |
| ACTA1actin alpha 1, skeletal muscle | Very often (80–99%) | In 3 conditions |
| AGKacylglycerol kinase | Very often (80–99%) | In 2 conditions |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Very often (80–99%) | In 1 condition |
| CASQ1calsequestrin 1 | Very often (80–99%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Very often (80–99%) | In 1 condition |
| EMDemerin | Very often (80–99%) | In 2 conditions |
| FDXRferredoxin reductase | Very often (80–99%) | In 1 condition |
| FHL1four and a half LIM domains 1 | Very often (80–99%) | In 1 condition |
| FKRPfukutin related protein | Very often (80–99%) | In 1 condition |
| FKTNfukutin | Very often (80–99%) | In 3 conditions |
| GCLCglutamate-cysteine ligase catalytic subunit | Very often (80–99%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Very often (80–99%) | In 2 conditions |
| KBTBD13kelch repeat and BTB domain containing 13 | Very often (80–99%) | In 2 conditions |
| KLHL41kelch like family member 41 | Very often (80–99%) | In 2 conditions |
Show 240 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Very often (80–99%) | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Very often (80–99%) | In 5 conditions |
| MT-RNR1mitochondrially encoded 12S rRNA | Very often (80–99%) | In 1 condition |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Very often (80–99%) | In 1 condition |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Very often (80–99%) | In 4 conditions |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Very often (80–99%) | In 4 conditions |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Very often (80–99%) | In 3 conditions |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Very often (80–99%) | In 4 conditions |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Very often (80–99%) | In 2 conditions |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Very often (80–99%) | In 3 conditions |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Very often (80–99%) | In 4 conditions |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Very often (80–99%) | In 4 conditions |
| MYPNmyopalladin | Very often (80–99%) | In 2 conditions |
| NEBnebulin | Very often (80–99%) | In 2 conditions |
| PABPN1poly(A) binding protein nuclear 1 | Very often (80–99%) | In 1 condition |
| PLECplectin | Very often (80–99%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Very often (80–99%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Very often (80–99%) | In 2 conditions |
| POMT2protein O-mannosyltransferase 2 | Very often (80–99%) | In 1 condition |
| PUS1pseudouridine synthase 1 | Very often (80–99%) | In 1 condition |
| SELENONselenoprotein N | Very often (80–99%) | In 1 condition |
| SLC25A4solute carrier family 25 member 4 | Very often (80–99%) | In 2 conditions |
| SQSTM1sequestosome 1 | Very often (80–99%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Very often (80–99%) | In 1 condition |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Very often (80–99%) | In 1 condition |
| TKFCtriokinase and FMN cyclase | Very often (80–99%) | In 1 condition |
| TMEM43transmembrane protein 43 | Very often (80–99%) | In 1 condition |
| TPM2tropomyosin 2 | Very often (80–99%) | In 2 conditions |
| TPM3tropomyosin 3 | Very often (80–99%) | In 1 condition |
| TRIM32tripartite motif containing 32 | Very often (80–99%) | In 1 condition |
| TRMUtRNA mitochondrial 2-thiouridylase | Very often (80–99%) | In 1 condition |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Very often (80–99%) | In 1 condition |
| YARS2tyrosyl-tRNA synthetase 2 | Very often (80–99%) | In 1 condition |
| ZBTB20zinc finger and BTB domain containing 20 | Very often (80–99%) | In 1 condition |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Often (30–79%) | In 2 conditions |
| ACAD9acyl-CoA dehydrogenase family member 9 | Often (30–79%) | In 1 condition |
| ACADSacyl-CoA dehydrogenase short chain | Often (30–79%) | In 2 conditions |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Often (30–79%) | In 2 conditions |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Often (30–79%) | In 1 condition |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Often (30–79%) | In 1 condition |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Often (30–79%) | In 1 condition |
| CHST14carbohydrate sulfotransferase 14 | Often (30–79%) | In 1 condition |
| COL12A1collagen type XII alpha 1 chain | Often (30–79%) | In 2 conditions |
| COL13A1collagen type XIII alpha 1 chain | Often (30–79%) | In 1 condition |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Often (30–79%) | In 2 conditions |
| CPT2carnitine palmitoyltransferase 2 | Often (30–79%) | In 1 condition |
| DCCDCC netrin 1 receptor | Often (30–79%) | In 1 condition |
| DNA2DNA replication helicase/nuclease 2 | Often (30–79%) | In 2 conditions |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Often (30–79%) | In 1 condition |
| DSEdermatan sulfate epimerase | Often (30–79%) | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Often (30–79%) | In 1 condition |
| GATMglycine amidinotransferase | Often (30–79%) | In 1 condition |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Often (30–79%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Often (30–79%) | In 2 conditions |
| LAMB2laminin subunit beta 2 | Often (30–79%) | In 1 condition |
| LIPElipase E, hormone sensitive type | Often (30–79%) | In 1 condition |
| LMNB2lamin B2 | Often (30–79%) | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Often (30–79%) | In 1 condition |
| MGME1mitochondrial genome maintenance exonuclease 1 | Often (30–79%) | In 1 condition |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Often (30–79%) | In 3 conditions |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Often (30–79%) | In 2 conditions |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Often (30–79%) | In 4 conditions |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Often (30–79%) | In 4 conditions |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Often (30–79%) | In 3 conditions |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Often (30–79%) | In 4 conditions |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Often (30–79%) | In 2 conditions |
| MYH14myosin heavy chain 14 | Often (30–79%) | In 1 condition |
| NAXDNAD(P)HX dehydratase | Often (30–79%) | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Often (30–79%) | In 3 conditions |
| PGK1phosphoglycerate kinase 1 | Often (30–79%) | In 2 conditions |
| POLGDNA polymerase gamma, catalytic subunit | Often (30–79%) | In 4 conditions |
| POLG2DNA polymerase gamma 2, accessory subunit | Often (30–79%) | In 1 condition |
| POLRMTRNA polymerase mitochondrial | Often (30–79%) | In 1 condition |
| ROBO3roundabout guidance receptor 3 | Often (30–79%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Often (30–79%) | In 2 conditions |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 2 conditions |
| SCO2synthesis of cytochrome C oxidase 2 | Often (30–79%) | In 1 condition |
| SGCBsarcoglycan beta | Often (30–79%) | In 1 condition |
| SLC25A3solute carrier family 25 member 3 | 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 |
| TRAPPC11trafficking protein particle complex subunit 11 | Often (30–79%) | In 2 conditions |
| TWNKtwinkle mtDNA helicase | Often (30–79%) | In 2 conditions |
| VPS13Avacuolar protein sorting 13 homolog A | Often (30–79%) | In 1 condition |
| ABCC9ATP binding cassette subfamily C member 9 | Sometimes (5–29%) | In 1 condition |
| ACADMacyl-CoA dehydrogenase medium chain | Sometimes (5–29%) | In 1 condition |
| ACTC1actin alpha cardiac muscle 1 | Sometimes (5–29%) | In 1 condition |
| ACTN2actinin alpha 2 | Sometimes (5–29%) | In 1 condition |
| ALDOAaldolase, fructose-bisphosphate A | Sometimes (5–29%) | In 1 condition |
| ANKRD1ankyrin repeat domain 1 | Sometimes (5–29%) | In 1 condition |
| BAG3BAG cochaperone 3 | Sometimes (5–29%) | In 1 condition |
| BAG5BAG cochaperone 5 | Sometimes (5–29%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sometimes (5–29%) | In 1 condition |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Sometimes (5–29%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Sometimes (5–29%) | In 1 condition |
| CAP2cyclase associated actin cytoskeleton regulatory protein 2 | Sometimes (5–29%) | In 1 condition |
| CASZ1castor zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| CFL2cofilin 2 | Sometimes (5–29%) | In 1 condition |
| CISD2CDGSH iron sulfur domain 2 | Sometimes (5–29%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Sometimes (5–29%) | In 1 condition |
| COQ4coenzyme Q4 | Sometimes (5–29%) | In 1 condition |
| CRYABcrystallin alpha B | Sometimes (5–29%) | In 1 condition |
| CSRP3cysteine and glycine rich protein 3 | Sometimes (5–29%) | In 1 condition |
| CTNScystinosin, lysosomal cystine transporter | Sometimes (5–29%) | In 1 condition |
| DESdesmin | Sometimes (5–29%) | In 1 condition |
| DMDdystrophin | Sometimes (5–29%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sometimes (5–29%) | In 2 conditions |
| DOLKdolichol kinase | Sometimes (5–29%) | In 1 condition |
| DSG2desmoglein 2 | Sometimes (5–29%) | In 1 condition |
| DSPdesmoplakin | Sometimes (5–29%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Sometimes (5–29%) | In 1 condition |
| ELNelastin | Sometimes (5–29%) | In 1 condition |
| FHL2four and a half LIM domains 2 | Sometimes (5–29%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sometimes (5–29%) | In 1 condition |
| FLNCfilamin C | Sometimes (5–29%) | In 2 conditions |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Sometimes (5–29%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sometimes (5–29%) | In 1 condition |
| GATAD1GATA zinc finger domain containing 1 | Sometimes (5–29%) | In 1 condition |
| GET3guided entry of tail-anchored proteins factor 3, ATPase | Sometimes (5–29%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Sometimes (5–29%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Sometimes (5–29%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Sometimes (5–29%) | In 1 condition |
| HAND2heart and neural crest derivatives expressed 2 | Sometimes (5–29%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| JPH2junctophilin 2 | Sometimes (5–29%) | In 1 condition |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Sometimes (5–29%) | In 1 condition |
| LAMA4laminin subunit alpha 4 | Sometimes (5–29%) | In 1 condition |
| LDB3LIM domain binding 3 | Sometimes (5–29%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Sometimes (5–29%) | In 1 condition |
| LMOD2leiomodin 2 | Sometimes (5–29%) | In 1 condition |
| LMOD3leiomodin 3 | Sometimes (5–29%) | In 1 condition |
| LUZP1leucine zipper protein 1 | Sometimes (5–29%) | In 1 condition |
| METTL27methyltransferase like 27 | Sometimes (5–29%) | In 1 condition |
| MMP23Bmatrix metallopeptidase 23B | Sometimes (5–29%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sometimes (5–29%) | In 3 conditions |
| MT-CYBmitochondrially encoded cytochrome b | Sometimes (5–29%) | In 3 conditions |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Sometimes (5–29%) | In 2 conditions |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Sometimes (5–29%) | In 2 conditions |
| MTAPmethylthioadenosine phosphorylase | Sometimes (5–29%) | In 1 condition |
| MTTPmicrosomal triglyceride transfer protein | Sometimes (5–29%) | In 1 condition |
| MYBPC3myosin binding protein C3 | Sometimes (5–29%) | In 2 conditions |
| MYH6myosin heavy chain 6 | Sometimes (5–29%) | In 1 condition |
| MYH7myosin heavy chain 7 | Sometimes (5–29%) | In 2 conditions |
| MYMXmyomixer, myoblast fusion factor | Sometimes (5–29%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Sometimes (5–29%) | In 1 condition |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Sometimes (5–29%) | In 1 condition |
| NEXNnexilin F-actin binding protein | Sometimes (5–29%) | In 1 condition |
| NRAPnebulin related anchoring protein | Sometimes (5–29%) | In 1 condition |
| PDPNpodoplanin | Sometimes (5–29%) | In 1 condition |
| PLNphospholamban | Sometimes (5–29%) | In 1 condition |
| PPARGperoxisome proliferator activated receptor gamma | Sometimes (5–29%) | In 1 condition |
| PPCSphosphopantothenoylcysteine synthetase | Sometimes (5–29%) | In 1 condition |
| PPIBpeptidylprolyl isomerase B | Sometimes (5–29%) | In 1 condition |
| PRDM16PR/SET domain 16 | Sometimes (5–29%) | In 2 conditions |
| PRKCZprotein kinase C zeta | Sometimes (5–29%) | In 1 condition |
| PSEN1presenilin 1 | Sometimes (5–29%) | In 1 condition |
| PSEN2presenilin 2 | Sometimes (5–29%) | In 1 condition |
| PTENphosphatase and tensin homolog | Sometimes (5–29%) | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| RBM20RNA binding motif protein 20 | Sometimes (5–29%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Sometimes (5–29%) | In 1 condition |
| RFC2replication factor C subunit 2 | Sometimes (5–29%) | In 1 condition |
| RPL3Lribosomal protein L3 like | Sometimes (5–29%) | In 1 condition |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Sometimes (5–29%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Sometimes (5–29%) | In 1 condition |
| SGCDsarcoglycan delta | Sometimes (5–29%) | In 1 condition |
| SKISKI proto-oncogene | Sometimes (5–29%) | In 1 condition |
| SPENspen family transcriptional repressor | Sometimes (5–29%) | In 1 condition |
| STX1Asyntaxin 1A | Sometimes (5–29%) | In 1 condition |
| TAF1ATATA-box binding protein associated factor, RNA polymerase I subunit A | Sometimes (5–29%) | In 1 condition |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Sometimes (5–29%) | In 1 condition |
| TBCEtubulin folding cofactor E | Sometimes (5–29%) | In 1 condition |
| TBL2transducin beta like 2 | Sometimes (5–29%) | In 1 condition |
| TCAPtitin-cap | Sometimes (5–29%) | In 1 condition |
| TMEM270transmembrane protein 270 | Sometimes (5–29%) | In 1 condition |
| TMPOthymopoietin | Sometimes (5–29%) | In 1 condition |
| TNNC1troponin C1, slow skeletal and cardiac type | Sometimes (5–29%) | In 1 condition |
| TNNI3troponin I3, cardiac type | Sometimes (5–29%) | In 1 condition |
| TNNT2troponin T2, cardiac type | Sometimes (5–29%) | In 1 condition |
| TPM1tropomyosin 1 | Sometimes (5–29%) | In 1 condition |
| TXNRD2thioredoxin reductase 2 | Sometimes (5–29%) | In 1 condition |
| UBE4Bubiquitination factor E4B | Sometimes (5–29%) | In 1 condition |
| VCLvinculin | Sometimes (5–29%) | In 1 condition |
| VEZF1vascular endothelial zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Sometimes (5–29%) | In 1 condition |
| WFS1wolframin ER transmembrane glycoprotein | Sometimes (5–29%) | In 1 condition |
| COL9A1collagen type IX alpha 1 chain | Rarely (1–4%) | In 1 condition |
| COL9A2collagen type IX alpha 2 chain | Rarely (1–4%) | In 1 condition |
| COL9A3collagen type IX alpha 3 chain | Rarely (1–4%) | In 1 condition |
| SAR1Bsecretion associated Ras related GTPase 1B | Rarely (1–4%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Rarely (1–4%) | In 1 condition |
| ACACAacetyl-CoA carboxylase alpha | Not recorded | In 1 condition |
| ADGRG6adhesion G protein-coupled receptor G6 | Not recorded | In 1 condition |
| ALPLalkaline phosphatase, biomineralization associated | Not recorded | In 1 condition |
| ANO5anoctamin 5 | Not recorded | In 1 condition |
| C1QBPcomplement C1q binding protein | Not recorded | In 1 condition |
| CAPN3calpain 3 | Not recorded | In 1 condition |
| CCDC174coiled-coil domain containing 174 | Not recorded | In 1 condition |
| CENPFcentromere protein F | Not recorded | In 1 condition |
| CHKBcholine kinase beta | Not recorded | In 1 condition |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Not recorded | In 2 conditions |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Not recorded | In 1 condition |
| CLCN1chloride voltage-gated channel 1 | Not recorded | In 1 condition |
| COL6A1collagen type VI alpha 1 chain | Not recorded | In 1 condition |
| DAG1dystroglycan 1 | Not recorded | In 1 condition |
| DYSFdysferlin | Not recorded | In 1 condition |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Not recorded | In 1 condition |
| FLAD1flavin adenine dinucleotide synthetase 1 | Not recorded | In 1 condition |
| GFERgrowth factor, augmenter of liver regeneration | Not recorded | In 1 condition |
| GKglycerol kinase | Not recorded | In 1 condition |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Not recorded | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Not recorded | In 1 condition |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Not recorded | In 1 condition |
| ISCUiron-sulfur cluster assembly enzyme | Not recorded | In 1 condition |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Not recorded | In 1 condition |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Not recorded | In 1 condition |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Not recorded | In 1 condition |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Not recorded | In 1 condition |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Not recorded | In 1 condition |
| MYO18Bmyosin XVIIIB | Not recorded | In 1 condition |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Not recorded | In 1 condition |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Not recorded | In 1 condition |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Not recorded | In 1 condition |
| NEFHneurofilament heavy chain | Not recorded | In 1 condition |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Not recorded | In 1 condition |
| PANK2pantothenate kinase 2 | Not recorded | In 1 condition |
| PGAM2phosphoglycerate mutase 2 | Not recorded | In 1 condition |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Not recorded | In 1 condition |
| RETret proto-oncogene | Not recorded | In 1 condition |
| RMND1required for meiotic nuclear division 1 homolog | Not recorded | In 1 condition |
| SLC22A5solute carrier family 22 member 5 | Not recorded | In 1 condition |
| STIM1stromal interaction molecule 1 | Not recorded | In 3 conditions |
| TPI1triosephosphate isomerase 1 | Not recorded | In 1 condition |
| UBA1ubiquitin like modifier activating enzyme 1 | Not recorded | In 1 condition |
| VAMP1vesicle associated membrane protein 1 | Not recorded | In 1 condition |
| VCPvalosin containing protein | Not recorded | In 1 condition |
| VMA21vacuolar ATPase assembly factor VMA21 | Not recorded | In 1 condition |
| XDHxanthine dehydrogenase | 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.
Narrower traits
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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