Požymis
Muscle tissue disease
Klinikinis pavadinimas: Myopathy
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Santrauka
- Taip pat vadinama
- Myopathic changes
- Kūno sistema
- Abnormality of the musculoskeletal system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Muscle tissue disease, and the rest of your genome, with one test.
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Įsigyti savo Genome Test280 genų susiję su Muscle tissue disease
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Muscle tissue disease. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ADSS1adenylosuccinate synthase 1 | Visada | 1 ligoje |
| AMPD1adenosine monophosphate deaminase 1 | Visada | 1 ligoje |
| B4GALT1beta-1,4-galactosyltransferase 1 | Visada | 1 ligoje |
| CAV3caveolin 3 | Visada | 3 ligose |
| DNM1Ldynamin 1L | Visada | 2 ligose |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Visada | 2 ligose |
| FKBP14FKBP prolyl isomerase 14 | Visada | 2 ligose |
| GUK1guanylate kinase 1 | Visada | 1 ligoje |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Visada | 1 ligoje |
| LMNAlamin A/C | Visada | 8 ligose |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Visada | 1 ligoje |
| MYH2myosin heavy chain 2 | Visada | 1 ligoje |
| MYMKmyomaker, myoblast fusion factor | Visada | 2 ligose |
| MYOD1myogenic differentiation 1 | Visada | 1 ligoje |
| NDC1NDC1 transmembrane nucleoporin | Visada | 1 ligoje |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Visada | 1 ligoje |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Visada | 1 ligoje |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Visada | 2 ligose |
| RFC4replication factor C subunit 4 | Visada | 1 ligoje |
| RRM1ribonucleotide reductase catalytic subunit M1 | Visada | 2 ligose |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Visada | 3 ligose |
| SIL1SIL1 nucleotide exchange factor | Visada | 2 ligose |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Visada | 2 ligose |
| TNNT1troponin T1, slow skeletal type | Visada | 1 ligoje |
| TRIM63tripartite motif containing 63 | Visada | 1 ligoje |
| TTNtitin | Visada | 3 ligose |
| ACTA1actin alpha 1, skeletal muscle | Labai dažnai (80–99%) | 3 ligose |
| AGKacylglycerol kinase | Labai dažnai (80–99%) | 2 ligose |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Labai dažnai (80–99%) | 1 ligoje |
| CASQ1calsequestrin 1 | Labai dažnai (80–99%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Labai dažnai (80–99%) | 1 ligoje |
| EMDemerin | Labai dažnai (80–99%) | 2 ligose |
| FDXRferredoxin reductase | Labai dažnai (80–99%) | 1 ligoje |
| FHL1four and a half LIM domains 1 | Labai dažnai (80–99%) | 1 ligoje |
| FKRPfukutin related protein | Labai dažnai (80–99%) | 1 ligoje |
| FKTNfukutin | Labai dažnai (80–99%) | 3 ligose |
| GCLCglutamate-cysteine ligase catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Labai dažnai (80–99%) | 2 ligose |
| KBTBD13kelch repeat and BTB domain containing 13 | Labai dažnai (80–99%) | 2 ligose |
| KLHL41kelch like family member 41 | Labai dažnai (80–99%) | 2 ligose |
Rodyti dar 240 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Labai dažnai (80–99%) | 5 ligose |
| MT-RNR1mitochondrially encoded 12S rRNA | Labai dažnai (80–99%) | 1 ligoje |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Labai dažnai (80–99%) | 1 ligoje |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Labai dažnai (80–99%) | 4 ligose |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Labai dažnai (80–99%) | 4 ligose |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Labai dažnai (80–99%) | 3 ligose |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Labai dažnai (80–99%) | 4 ligose |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Labai dažnai (80–99%) | 2 ligose |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Labai dažnai (80–99%) | 3 ligose |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Labai dažnai (80–99%) | 4 ligose |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Labai dažnai (80–99%) | 4 ligose |
| MYPNmyopalladin | Labai dažnai (80–99%) | 2 ligose |
| NEBnebulin | Labai dažnai (80–99%) | 2 ligose |
| PABPN1poly(A) binding protein nuclear 1 | Labai dažnai (80–99%) | 1 ligoje |
| PLECplectin | Labai dažnai (80–99%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Labai dažnai (80–99%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Labai dažnai (80–99%) | 2 ligose |
| POMT2protein O-mannosyltransferase 2 | Labai dažnai (80–99%) | 1 ligoje |
| PUS1pseudouridine synthase 1 | Labai dažnai (80–99%) | 1 ligoje |
| SELENONselenoprotein N | Labai dažnai (80–99%) | 1 ligoje |
| SLC25A4solute carrier family 25 member 4 | Labai dažnai (80–99%) | 2 ligose |
| SQSTM1sequestosome 1 | Labai dažnai (80–99%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Labai dažnai (80–99%) | 1 ligoje |
| TKFCtriokinase and FMN cyclase | Labai dažnai (80–99%) | 1 ligoje |
| TMEM43transmembrane protein 43 | Labai dažnai (80–99%) | 1 ligoje |
| TPM2tropomyosin 2 | Labai dažnai (80–99%) | 2 ligose |
| TPM3tropomyosin 3 | Labai dažnai (80–99%) | 1 ligoje |
| TRIM32tripartite motif containing 32 | Labai dažnai (80–99%) | 1 ligoje |
| TRMUtRNA mitochondrial 2-thiouridylase | Labai dažnai (80–99%) | 1 ligoje |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Labai dažnai (80–99%) | 1 ligoje |
| YARS2tyrosyl-tRNA synthetase 2 | Labai dažnai (80–99%) | 1 ligoje |
| ZBTB20zinc finger and BTB domain containing 20 | Labai dažnai (80–99%) | 1 ligoje |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Dažnai (30–79%) | 2 ligose |
| ACAD9acyl-CoA dehydrogenase family member 9 | Dažnai (30–79%) | 1 ligoje |
| ACADSacyl-CoA dehydrogenase short chain | Dažnai (30–79%) | 2 ligose |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Dažnai (30–79%) | 2 ligose |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Dažnai (30–79%) | 1 ligoje |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Dažnai (30–79%) | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Dažnai (30–79%) | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Dažnai (30–79%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| COL13A1collagen type XIII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Dažnai (30–79%) | 2 ligose |
| CPT2carnitine palmitoyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| DCCDCC netrin 1 receptor | Dažnai (30–79%) | 1 ligoje |
| DNA2DNA replication helicase/nuclease 2 | Dažnai (30–79%) | 2 ligose |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Dažnai (30–79%) | 1 ligoje |
| DSEdermatan sulfate epimerase | Dažnai (30–79%) | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Dažnai (30–79%) | 1 ligoje |
| GATMglycine amidinotransferase | Dažnai (30–79%) | 1 ligoje |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Dažnai (30–79%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Dažnai (30–79%) | 2 ligose |
| LAMB2laminin subunit beta 2 | Dažnai (30–79%) | 1 ligoje |
| LIPElipase E, hormone sensitive type | Dažnai (30–79%) | 1 ligoje |
| LMNB2lamin B2 | Dažnai (30–79%) | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Dažnai (30–79%) | 1 ligoje |
| MGME1mitochondrial genome maintenance exonuclease 1 | Dažnai (30–79%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Dažnai (30–79%) | 3 ligose |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Dažnai (30–79%) | 2 ligose |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Dažnai (30–79%) | 4 ligose |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Dažnai (30–79%) | 4 ligose |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Dažnai (30–79%) | 3 ligose |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Dažnai (30–79%) | 4 ligose |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Dažnai (30–79%) | 2 ligose |
| MYH14myosin heavy chain 14 | Dažnai (30–79%) | 1 ligoje |
| NAXDNAD(P)HX dehydratase | Dažnai (30–79%) | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Dažnai (30–79%) | 3 ligose |
| PGK1phosphoglycerate kinase 1 | Dažnai (30–79%) | 2 ligose |
| POLGDNA polymerase gamma, catalytic subunit | Dažnai (30–79%) | 4 ligose |
| POLG2DNA polymerase gamma 2, accessory subunit | Dažnai (30–79%) | 1 ligoje |
| POLRMTRNA polymerase mitochondrial | Dažnai (30–79%) | 1 ligoje |
| ROBO3roundabout guidance receptor 3 | Dažnai (30–79%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Dažnai (30–79%) | 2 ligose |
| RYR1ryanodine receptor 1 | Dažnai (30–79%) | 2 ligose |
| SCO2synthesis of cytochrome C oxidase 2 | Dažnai (30–79%) | 1 ligoje |
| SGCBsarcoglycan beta | Dažnai (30–79%) | 1 ligoje |
| SLC25A3solute carrier family 25 member 3 | Dažnai (30–79%) | 1 ligoje |
| TK2thymidine kinase 2 | Dažnai (30–79%) | 1 ligoje |
| TOP3ADNA topoisomerase III alpha | Dažnai (30–79%) | 1 ligoje |
| TRAPPC11trafficking protein particle complex subunit 11 | Dažnai (30–79%) | 2 ligose |
| TWNKtwinkle mtDNA helicase | Dažnai (30–79%) | 2 ligose |
| VPS13Avacuolar protein sorting 13 homolog A | Dažnai (30–79%) | 1 ligoje |
| ABCC9ATP binding cassette subfamily C member 9 | Kartais (5–29%) | 1 ligoje |
| ACADMacyl-CoA dehydrogenase medium chain | Kartais (5–29%) | 1 ligoje |
| ACTC1actin alpha cardiac muscle 1 | Kartais (5–29%) | 1 ligoje |
| ACTN2actinin alpha 2 | Kartais (5–29%) | 1 ligoje |
| ALDOAaldolase, fructose-bisphosphate A | Kartais (5–29%) | 1 ligoje |
| ANKRD1ankyrin repeat domain 1 | Kartais (5–29%) | 1 ligoje |
| BAG3BAG cochaperone 3 | Kartais (5–29%) | 1 ligoje |
| BAG5BAG cochaperone 5 | Kartais (5–29%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Kartais (5–29%) | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Kartais (5–29%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Kartais (5–29%) | 1 ligoje |
| CAP2cyclase associated actin cytoskeleton regulatory protein 2 | Kartais (5–29%) | 1 ligoje |
| CASZ1castor zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| CFL2cofilin 2 | Kartais (5–29%) | 1 ligoje |
| CISD2CDGSH iron sulfur domain 2 | Kartais (5–29%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Kartais (5–29%) | 1 ligoje |
| COQ4coenzyme Q4 | Kartais (5–29%) | 1 ligoje |
| CRYABcrystallin alpha B | Kartais (5–29%) | 1 ligoje |
| CSRP3cysteine and glycine rich protein 3 | Kartais (5–29%) | 1 ligoje |
| CTNScystinosin, lysosomal cystine transporter | Kartais (5–29%) | 1 ligoje |
| DESdesmin | Kartais (5–29%) | 1 ligoje |
| DMDdystrophin | Kartais (5–29%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Kartais (5–29%) | 2 ligose |
| DOLKdolichol kinase | Kartais (5–29%) | 1 ligoje |
| DSG2desmoglein 2 | Kartais (5–29%) | 1 ligoje |
| DSPdesmoplakin | Kartais (5–29%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Kartais (5–29%) | 1 ligoje |
| ELNelastin | Kartais (5–29%) | 1 ligoje |
| FHL2four and a half LIM domains 2 | Kartais (5–29%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Kartais (5–29%) | 1 ligoje |
| FLNCfilamin C | Kartais (5–29%) | 2 ligose |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Kartais (5–29%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Kartais (5–29%) | 1 ligoje |
| GATAD1GATA zinc finger domain containing 1 | Kartais (5–29%) | 1 ligoje |
| GET3guided entry of tail-anchored proteins factor 3, ATPase | Kartais (5–29%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Kartais (5–29%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Kartais (5–29%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Kartais (5–29%) | 1 ligoje |
| HAND2heart and neural crest derivatives expressed 2 | Kartais (5–29%) | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| JPH2junctophilin 2 | Kartais (5–29%) | 1 ligoje |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Kartais (5–29%) | 1 ligoje |
| LAMA4laminin subunit alpha 4 | Kartais (5–29%) | 1 ligoje |
| LDB3LIM domain binding 3 | Kartais (5–29%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Kartais (5–29%) | 1 ligoje |
| LMOD2leiomodin 2 | Kartais (5–29%) | 1 ligoje |
| LMOD3leiomodin 3 | Kartais (5–29%) | 1 ligoje |
| LUZP1leucine zipper protein 1 | Kartais (5–29%) | 1 ligoje |
| METTL27methyltransferase like 27 | Kartais (5–29%) | 1 ligoje |
| MMP23Bmatrix metallopeptidase 23B | Kartais (5–29%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Kartais (5–29%) | 3 ligose |
| MT-CYBmitochondrially encoded cytochrome b | Kartais (5–29%) | 3 ligose |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Kartais (5–29%) | 2 ligose |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Kartais (5–29%) | 2 ligose |
| MTAPmethylthioadenosine phosphorylase | Kartais (5–29%) | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Kartais (5–29%) | 1 ligoje |
| MYBPC3myosin binding protein C3 | Kartais (5–29%) | 2 ligose |
| MYH6myosin heavy chain 6 | Kartais (5–29%) | 1 ligoje |
| MYH7myosin heavy chain 7 | Kartais (5–29%) | 2 ligose |
| MYMXmyomixer, myoblast fusion factor | Kartais (5–29%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Kartais (5–29%) | 1 ligoje |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Kartais (5–29%) | 1 ligoje |
| NEXNnexilin F-actin binding protein | Kartais (5–29%) | 1 ligoje |
| NRAPnebulin related anchoring protein | Kartais (5–29%) | 1 ligoje |
| PDPNpodoplanin | Kartais (5–29%) | 1 ligoje |
| PLNphospholamban | Kartais (5–29%) | 1 ligoje |
| PPARGperoxisome proliferator activated receptor gamma | Kartais (5–29%) | 1 ligoje |
| PPCSphosphopantothenoylcysteine synthetase | Kartais (5–29%) | 1 ligoje |
| PPIBpeptidylprolyl isomerase B | Kartais (5–29%) | 1 ligoje |
| PRDM16PR/SET domain 16 | Kartais (5–29%) | 2 ligose |
| PRKCZprotein kinase C zeta | Kartais (5–29%) | 1 ligoje |
| PSEN1presenilin 1 | Kartais (5–29%) | 1 ligoje |
| PSEN2presenilin 2 | Kartais (5–29%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Kartais (5–29%) | 1 ligoje |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| RBM20RNA binding motif protein 20 | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Kartais (5–29%) | 1 ligoje |
| RPL3Lribosomal protein L3 like | Kartais (5–29%) | 1 ligoje |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Kartais (5–29%) | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Kartais (5–29%) | 1 ligoje |
| SGCDsarcoglycan delta | Kartais (5–29%) | 1 ligoje |
| SKISKI proto-oncogene | Kartais (5–29%) | 1 ligoje |
| SPENspen family transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| STX1Asyntaxin 1A | Kartais (5–29%) | 1 ligoje |
| TAF1ATATA-box binding protein associated factor, RNA polymerase I subunit A | Kartais (5–29%) | 1 ligoje |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Kartais (5–29%) | 1 ligoje |
| TBCEtubulin folding cofactor E | Kartais (5–29%) | 1 ligoje |
| TBL2transducin beta like 2 | Kartais (5–29%) | 1 ligoje |
| TCAPtitin-cap | Kartais (5–29%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Kartais (5–29%) | 1 ligoje |
| TMPOthymopoietin | Kartais (5–29%) | 1 ligoje |
| TNNC1troponin C1, slow skeletal and cardiac type | Kartais (5–29%) | 1 ligoje |
| TNNI3troponin I3, cardiac type | Kartais (5–29%) | 1 ligoje |
| TNNT2troponin T2, cardiac type | Kartais (5–29%) | 1 ligoje |
| TPM1tropomyosin 1 | Kartais (5–29%) | 1 ligoje |
| TXNRD2thioredoxin reductase 2 | Kartais (5–29%) | 1 ligoje |
| UBE4Bubiquitination factor E4B | Kartais (5–29%) | 1 ligoje |
| VCLvinculin | Kartais (5–29%) | 1 ligoje |
| VEZF1vascular endothelial zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Kartais (5–29%) | 1 ligoje |
| WFS1wolframin ER transmembrane glycoprotein | Kartais (5–29%) | 1 ligoje |
| COL9A1collagen type IX alpha 1 chain | Retai (1–4 %) | 1 ligoje |
| COL9A2collagen type IX alpha 2 chain | Retai (1–4 %) | 1 ligoje |
| COL9A3collagen type IX alpha 3 chain | Retai (1–4 %) | 1 ligoje |
| SAR1Bsecretion associated Ras related GTPase 1B | Retai (1–4 %) | 1 ligoje |
| SDHDsuccinate dehydrogenase complex subunit D | Retai (1–4 %) | 1 ligoje |
| ACACAacetyl-CoA carboxylase alpha | Neužfiksuota | 1 ligoje |
| ADGRG6adhesion G protein-coupled receptor G6 | Neužfiksuota | 1 ligoje |
| ALPLalkaline phosphatase, biomineralization associated | Neužfiksuota | 1 ligoje |
| ANO5anoctamin 5 | Neužfiksuota | 1 ligoje |
| C1QBPcomplement C1q binding protein | Neužfiksuota | 1 ligoje |
| CAPN3calpain 3 | Neužfiksuota | 1 ligoje |
| CCDC174coiled-coil domain containing 174 | Neužfiksuota | 1 ligoje |
| CENPFcentromere protein F | Neužfiksuota | 1 ligoje |
| CHKBcholine kinase beta | Neužfiksuota | 1 ligoje |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Neužfiksuota | 2 ligose |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Neužfiksuota | 1 ligoje |
| CLCN1chloride voltage-gated channel 1 | Neužfiksuota | 1 ligoje |
| COL6A1collagen type VI alpha 1 chain | Neužfiksuota | 1 ligoje |
| DAG1dystroglycan 1 | Neužfiksuota | 1 ligoje |
| DYSFdysferlin | Neužfiksuota | 1 ligoje |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Neužfiksuota | 1 ligoje |
| FLAD1flavin adenine dinucleotide synthetase 1 | Neužfiksuota | 1 ligoje |
| GFERgrowth factor, augmenter of liver regeneration | Neužfiksuota | 1 ligoje |
| GKglycerol kinase | Neužfiksuota | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Neužfiksuota | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Neužfiksuota | 1 ligoje |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Neužfiksuota | 1 ligoje |
| ISCUiron-sulfur cluster assembly enzyme | Neužfiksuota | 1 ligoje |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Neužfiksuota | 1 ligoje |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Neužfiksuota | 1 ligoje |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Neužfiksuota | 1 ligoje |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Neužfiksuota | 1 ligoje |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Neužfiksuota | 1 ligoje |
| MYO18Bmyosin XVIIIB | Neužfiksuota | 1 ligoje |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Neužfiksuota | 1 ligoje |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Neužfiksuota | 1 ligoje |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Neužfiksuota | 1 ligoje |
| NEFHneurofilament heavy chain | Neužfiksuota | 1 ligoje |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Neužfiksuota | 1 ligoje |
| PANK2pantothenate kinase 2 | Neužfiksuota | 1 ligoje |
| PGAM2phosphoglycerate mutase 2 | Neužfiksuota | 1 ligoje |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Neužfiksuota | 1 ligoje |
| RETret proto-oncogene | Neužfiksuota | 1 ligoje |
| RMND1required for meiotic nuclear division 1 homolog | Neužfiksuota | 1 ligoje |
| SLC22A5solute carrier family 22 member 5 | Neužfiksuota | 1 ligoje |
| STIM1stromal interaction molecule 1 | Neužfiksuota | 3 ligose |
| TPI1triosephosphate isomerase 1 | Neužfiksuota | 1 ligoje |
| UBA1ubiquitin like modifier activating enzyme 1 | Neužfiksuota | 1 ligoje |
| VAMP1vesicle associated membrane protein 1 | Neužfiksuota | 1 ligoje |
| VCPvalosin containing protein | Neužfiksuota | 1 ligoje |
| VMA21vacuolar ATPase assembly factor VMA21 | Neužfiksuota | 1 ligoje |
| XDHxanthine dehydrogenase | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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