Træk
Muscle tissue disease
Klinisk navn: Myopathy
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Resumé
- Også kaldet
- Myopathic changes
- Kropssystem
- Abnormality of the musculoskeletal system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Ændringer i disse gener forårsager sjældne tilstande, hvor Muscle tissue disease 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 |
|---|---|---|
| ADSS1adenylosuccinate synthase 1 | Altid | I 1 tilstand |
| AMPD1adenosine monophosphate deaminase 1 | Altid | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Altid | I 1 tilstand |
| CAV3caveolin 3 | Altid | I 3 tilstande |
| DNM1Ldynamin 1L | Altid | I 2 tilstande |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Altid | I 2 tilstande |
| FKBP14FKBP prolyl isomerase 14 | Altid | I 2 tilstande |
| GUK1guanylate kinase 1 | Altid | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Altid | I 1 tilstand |
| LMNAlamin A/C | Altid | I 8 tilstande |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Altid | I 1 tilstand |
| MYH2myosin heavy chain 2 | Altid | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Altid | I 2 tilstande |
| MYOD1myogenic differentiation 1 | Altid | I 1 tilstand |
| NDC1NDC1 transmembrane nucleoporin | Altid | I 1 tilstand |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Altid | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Altid | I 1 tilstand |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Altid | I 2 tilstande |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Altid | I 2 tilstande |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Altid | I 3 tilstande |
| SIL1SIL1 nucleotide exchange factor | Altid | I 2 tilstande |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Altid | I 2 tilstande |
| TNNT1troponin T1, slow skeletal type | Altid | I 1 tilstand |
| TRIM63tripartite motif containing 63 | Altid | I 1 tilstand |
| TTNtitin | Altid | I 3 tilstande |
| ACTA1actin alpha 1, skeletal muscle | Meget ofte (80–99 %) | I 3 tilstande |
| AGKacylglycerol kinase | Meget ofte (80–99 %) | I 2 tilstande |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CASQ1calsequestrin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Meget ofte (80–99 %) | I 1 tilstand |
| EMDemerin | Meget ofte (80–99 %) | I 2 tilstande |
| FDXRferredoxin reductase | Meget ofte (80–99 %) | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FKRPfukutin related protein | Meget ofte (80–99 %) | I 1 tilstand |
| FKTNfukutin | Meget ofte (80–99 %) | I 3 tilstande |
| GCLCglutamate-cysteine ligase catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Meget ofte (80–99 %) | I 2 tilstande |
| KBTBD13kelch repeat and BTB domain containing 13 | Meget ofte (80–99 %) | I 2 tilstande |
| KLHL41kelch like family member 41 | Meget ofte (80–99 %) | I 2 tilstande |
Vis 240 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Meget ofte (80–99 %) | I 5 tilstande |
| MT-RNR1mitochondrially encoded 12S rRNA | Meget ofte (80–99 %) | I 1 tilstand |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Meget ofte (80–99 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Meget ofte (80–99 %) | I 4 tilstande |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Meget ofte (80–99 %) | I 4 tilstande |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Meget ofte (80–99 %) | I 3 tilstande |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Meget ofte (80–99 %) | I 4 tilstande |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Meget ofte (80–99 %) | I 2 tilstande |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Meget ofte (80–99 %) | I 3 tilstande |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Meget ofte (80–99 %) | I 4 tilstande |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Meget ofte (80–99 %) | I 4 tilstande |
| MYPNmyopalladin | Meget ofte (80–99 %) | I 2 tilstande |
| NEBnebulin | Meget ofte (80–99 %) | I 2 tilstande |
| PABPN1poly(A) binding protein nuclear 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PLECplectin | Meget ofte (80–99 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Meget ofte (80–99 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| POMT2protein O-mannosyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PUS1pseudouridine synthase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SELENONselenoprotein N | Meget ofte (80–99 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Meget ofte (80–99 %) | I 2 tilstande |
| SQSTM1sequestosome 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Meget ofte (80–99 %) | I 1 tilstand |
| TKFCtriokinase and FMN cyclase | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM43transmembrane protein 43 | Meget ofte (80–99 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Meget ofte (80–99 %) | I 2 tilstande |
| TPM3tropomyosin 3 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Meget ofte (80–99 %) | I 1 tilstand |
| TRMUtRNA mitochondrial 2-thiouridylase | Meget ofte (80–99 %) | I 1 tilstand |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Meget ofte (80–99 %) | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Meget ofte (80–99 %) | I 1 tilstand |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Ofte (30–79 %) | I 2 tilstande |
| ACAD9acyl-CoA dehydrogenase family member 9 | Ofte (30–79 %) | I 1 tilstand |
| ACADSacyl-CoA dehydrogenase short chain | Ofte (30–79 %) | I 2 tilstande |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ofte (30–79 %) | I 2 tilstande |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Ofte (30–79 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ofte (30–79 %) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Ofte (30–79 %) | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| COL13A1collagen type XIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Ofte (30–79 %) | I 2 tilstande |
| CPT2carnitine palmitoyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Ofte (30–79 %) | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Ofte (30–79 %) | I 2 tilstande |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Ofte (30–79 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Ofte (30–79 %) | I 1 tilstand |
| GATMglycine amidinotransferase | Ofte (30–79 %) | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Ofte (30–79 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 2 tilstande |
| LAMB2laminin subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| LIPElipase E, hormone sensitive type | Ofte (30–79 %) | I 1 tilstand |
| LMNB2lamin B2 | Ofte (30–79 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ofte (30–79 %) | I 1 tilstand |
| MGME1mitochondrial genome maintenance exonuclease 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ofte (30–79 %) | I 3 tilstande |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Ofte (30–79 %) | I 2 tilstande |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ofte (30–79 %) | I 4 tilstande |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ofte (30–79 %) | I 4 tilstande |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 3 tilstande |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 4 tilstande |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ofte (30–79 %) | I 2 tilstande |
| MYH14myosin heavy chain 14 | Ofte (30–79 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Ofte (30–79 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ofte (30–79 %) | I 3 tilstande |
| PGK1phosphoglycerate kinase 1 | Ofte (30–79 %) | I 2 tilstande |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 4 tilstande |
| POLG2DNA polymerase gamma 2, accessory subunit | Ofte (30–79 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| ROBO3roundabout guidance receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Ofte (30–79 %) | I 2 tilstande |
| RYR1ryanodine receptor 1 | Ofte (30–79 %) | I 2 tilstande |
| SCO2synthesis of cytochrome C oxidase 2 | Ofte (30–79 %) | I 1 tilstand |
| SGCBsarcoglycan beta | Ofte (30–79 %) | I 1 tilstand |
| SLC25A3solute carrier family 25 member 3 | 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 |
| TRAPPC11trafficking protein particle complex subunit 11 | Ofte (30–79 %) | I 2 tilstande |
| TWNKtwinkle mtDNA helicase | Ofte (30–79 %) | I 2 tilstande |
| VPS13Avacuolar protein sorting 13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Nogle gange (5–29 %) | I 1 tilstand |
| ACADMacyl-CoA dehydrogenase medium chain | Nogle gange (5–29 %) | I 1 tilstand |
| ACTC1actin alpha cardiac muscle 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACTN2actinin alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDOAaldolase, fructose-bisphosphate A | Nogle gange (5–29 %) | I 1 tilstand |
| ANKRD1ankyrin repeat domain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BAG3BAG cochaperone 3 | Nogle gange (5–29 %) | I 1 tilstand |
| BAG5BAG cochaperone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Nogle gange (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Nogle gange (5–29 %) | I 1 tilstand |
| CAP2cyclase associated actin cytoskeleton regulatory protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CFL2cofilin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COQ4coenzyme Q4 | Nogle gange (5–29 %) | I 1 tilstand |
| CRYABcrystallin alpha B | Nogle gange (5–29 %) | I 1 tilstand |
| CSRP3cysteine and glycine rich protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Nogle gange (5–29 %) | I 1 tilstand |
| DESdesmin | Nogle gange (5–29 %) | I 1 tilstand |
| DMDdystrophin | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 2 tilstande |
| DOLKdolichol kinase | Nogle gange (5–29 %) | I 1 tilstand |
| DSG2desmoglein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DSPdesmoplakin | Nogle gange (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Nogle gange (5–29 %) | I 1 tilstand |
| ELNelastin | Nogle gange (5–29 %) | I 1 tilstand |
| FHL2four and a half LIM domains 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| FLNCfilamin C | Nogle gange (5–29 %) | I 2 tilstande |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| GATAD1GATA zinc finger domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GET3guided entry of tail-anchored proteins factor 3, ATPase | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HAND2heart and neural crest derivatives expressed 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| JPH2junctophilin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMA4laminin subunit alpha 4 | Nogle gange (5–29 %) | I 1 tilstand |
| LDB3LIM domain binding 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMOD2leiomodin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Nogle gange (5–29 %) | I 3 tilstande |
| MT-CYBmitochondrially encoded cytochrome b | Nogle gange (5–29 %) | I 3 tilstande |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Nogle gange (5–29 %) | I 2 tilstande |
| MTAPmethylthioadenosine phosphorylase | Nogle gange (5–29 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Nogle gange (5–29 %) | I 1 tilstand |
| MYBPC3myosin binding protein C3 | Nogle gange (5–29 %) | I 2 tilstande |
| MYH6myosin heavy chain 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MYH7myosin heavy chain 7 | Nogle gange (5–29 %) | I 2 tilstande |
| MYMXmyomixer, myoblast fusion factor | Nogle gange (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Nogle gange (5–29 %) | I 1 tilstand |
| NEXNnexilin F-actin binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| NRAPnebulin related anchoring protein | Nogle gange (5–29 %) | I 1 tilstand |
| PDPNpodoplanin | Nogle gange (5–29 %) | I 1 tilstand |
| PLNphospholamban | Nogle gange (5–29 %) | I 1 tilstand |
| PPARGperoxisome proliferator activated receptor gamma | Nogle gange (5–29 %) | I 1 tilstand |
| PPCSphosphopantothenoylcysteine synthetase | Nogle gange (5–29 %) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Nogle gange (5–29 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Nogle gange (5–29 %) | I 2 tilstande |
| PRKCZprotein kinase C zeta | Nogle gange (5–29 %) | I 1 tilstand |
| PSEN1presenilin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PSEN2presenilin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Nogle gange (5–29 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| RBM20RNA binding motif protein 20 | Nogle gange (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL3Lribosomal protein L3 like | Nogle gange (5–29 %) | I 1 tilstand |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| SGCDsarcoglycan delta | Nogle gange (5–29 %) | I 1 tilstand |
| SKISKI proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Nogle gange (5–29 %) | I 1 tilstand |
| TAF1ATATA-box binding protein associated factor, RNA polymerase I subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Nogle gange (5–29 %) | I 1 tilstand |
| TBCEtubulin folding cofactor E | Nogle gange (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TCAPtitin-cap | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Nogle gange (5–29 %) | I 1 tilstand |
| TMPOthymopoietin | Nogle gange (5–29 %) | I 1 tilstand |
| TNNC1troponin C1, slow skeletal and cardiac type | Nogle gange (5–29 %) | I 1 tilstand |
| TNNI3troponin I3, cardiac type | Nogle gange (5–29 %) | I 1 tilstand |
| TNNT2troponin T2, cardiac type | Nogle gange (5–29 %) | I 1 tilstand |
| TPM1tropomyosin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TXNRD2thioredoxin reductase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Nogle gange (5–29 %) | I 1 tilstand |
| VCLvinculin | Nogle gange (5–29 %) | I 1 tilstand |
| VEZF1vascular endothelial zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Nogle gange (5–29 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Nogle gange (5–29 %) | I 1 tilstand |
| COL9A1collagen type IX alpha 1 chain | Sjældent (1–4%) | I 1 tilstand |
| COL9A2collagen type IX alpha 2 chain | Sjældent (1–4%) | I 1 tilstand |
| COL9A3collagen type IX alpha 3 chain | Sjældent (1–4%) | I 1 tilstand |
| SAR1Bsecretion associated Ras related GTPase 1B | Sjældent (1–4%) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Sjældent (1–4%) | I 1 tilstand |
| ACACAacetyl-CoA carboxylase alpha | Ikke registreret | I 1 tilstand |
| ADGRG6adhesion G protein-coupled receptor G6 | Ikke registreret | I 1 tilstand |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registreret | I 1 tilstand |
| ANO5anoctamin 5 | Ikke registreret | I 1 tilstand |
| C1QBPcomplement C1q binding protein | Ikke registreret | I 1 tilstand |
| CAPN3calpain 3 | Ikke registreret | I 1 tilstand |
| CCDC174coiled-coil domain containing 174 | Ikke registreret | I 1 tilstand |
| CENPFcentromere protein F | Ikke registreret | I 1 tilstand |
| CHKBcholine kinase beta | Ikke registreret | I 1 tilstand |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Ikke registreret | I 2 tilstande |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Ikke registreret | I 1 tilstand |
| CLCN1chloride voltage-gated channel 1 | Ikke registreret | I 1 tilstand |
| COL6A1collagen type VI alpha 1 chain | Ikke registreret | I 1 tilstand |
| DAG1dystroglycan 1 | Ikke registreret | I 1 tilstand |
| DYSFdysferlin | Ikke registreret | I 1 tilstand |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Ikke registreret | I 1 tilstand |
| FLAD1flavin adenine dinucleotide synthetase 1 | Ikke registreret | I 1 tilstand |
| GFERgrowth factor, augmenter of liver regeneration | Ikke registreret | I 1 tilstand |
| GKglycerol kinase | Ikke registreret | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Ikke registreret | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Ikke registreret | I 1 tilstand |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Ikke registreret | I 1 tilstand |
| ISCUiron-sulfur cluster assembly enzyme | Ikke registreret | I 1 tilstand |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Ikke registreret | I 1 tilstand |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Ikke registreret | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ikke registreret | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ikke registreret | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ikke registreret | I 1 tilstand |
| MYO18Bmyosin XVIIIB | Ikke registreret | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Ikke registreret | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Ikke registreret | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Ikke registreret | I 1 tilstand |
| NEFHneurofilament heavy chain | Ikke registreret | I 1 tilstand |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Ikke registreret | I 1 tilstand |
| PANK2pantothenate kinase 2 | Ikke registreret | I 1 tilstand |
| PGAM2phosphoglycerate mutase 2 | Ikke registreret | I 1 tilstand |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Ikke registreret | I 1 tilstand |
| RETret proto-oncogene | Ikke registreret | I 1 tilstand |
| RMND1required for meiotic nuclear division 1 homolog | Ikke registreret | I 1 tilstand |
| SLC22A5solute carrier family 22 member 5 | Ikke registreret | I 1 tilstand |
| STIM1stromal interaction molecule 1 | Ikke registreret | I 3 tilstande |
| TPI1triosephosphate isomerase 1 | Ikke registreret | I 1 tilstand |
| UBA1ubiquitin like modifier activating enzyme 1 | Ikke registreret | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Ikke registreret | I 1 tilstand |
| VCPvalosin containing protein | Ikke registreret | I 1 tilstand |
| VMA21vacuolar ATPase assembly factor VMA21 | Ikke registreret | I 1 tilstand |
| XDHxanthine dehydrogenase | 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.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger