Egenskap
Muscle tissue disease
Klinisk navn: Myopathy
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Sammendrag
- Også kalt
- Myopathic changes
- Kroppssystem
- Abnormality of the musculoskeletal system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Muscle tissue disease forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ADSS1adenylosuccinate synthase 1 | Alltid | I 1 tilstand |
| AMPD1adenosine monophosphate deaminase 1 | Alltid | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Alltid | I 1 tilstand |
| CAV3caveolin 3 | Alltid | I 3 tilstander |
| DNM1Ldynamin 1L | Alltid | I 2 tilstander |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Alltid | I 2 tilstander |
| FKBP14FKBP prolyl isomerase 14 | Alltid | I 2 tilstander |
| GUK1guanylate kinase 1 | Alltid | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Alltid | I 1 tilstand |
| LMNAlamin A/C | Alltid | I 8 tilstander |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alltid | I 1 tilstand |
| MYH2myosin heavy chain 2 | Alltid | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Alltid | I 2 tilstander |
| MYOD1myogenic differentiation 1 | Alltid | I 1 tilstand |
| NDC1NDC1 transmembrane nucleoporin | Alltid | I 1 tilstand |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Alltid | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Alltid | I 1 tilstand |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Alltid | I 2 tilstander |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Alltid | I 2 tilstander |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alltid | I 3 tilstander |
| SIL1SIL1 nucleotide exchange factor | Alltid | I 2 tilstander |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Alltid | I 2 tilstander |
| TNNT1troponin T1, slow skeletal type | Alltid | I 1 tilstand |
| TRIM63tripartite motif containing 63 | Alltid | I 1 tilstand |
| TTNtitin | Alltid | I 3 tilstander |
| ACTA1actin alpha 1, skeletal muscle | Svært ofte (80–99 %) | I 3 tilstander |
| AGKacylglycerol kinase | Svært ofte (80–99 %) | I 2 tilstander |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CASQ1calsequestrin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Svært ofte (80–99 %) | I 1 tilstand |
| EMDemerin | Svært ofte (80–99 %) | I 2 tilstander |
| FDXRferredoxin reductase | Svært ofte (80–99 %) | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FKRPfukutin related protein | Svært ofte (80–99 %) | I 1 tilstand |
| FKTNfukutin | Svært ofte (80–99 %) | I 3 tilstander |
| GCLCglutamate-cysteine ligase catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Svært ofte (80–99 %) | I 2 tilstander |
| KBTBD13kelch repeat and BTB domain containing 13 | Svært ofte (80–99 %) | I 2 tilstander |
| KLHL41kelch like family member 41 | Svært ofte (80–99 %) | I 2 tilstander |
Vis 240 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Svært ofte (80–99 %) | I 5 tilstander |
| MT-RNR1mitochondrially encoded 12S rRNA | Svært ofte (80–99 %) | I 1 tilstand |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Svært ofte (80–99 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Svært ofte (80–99 %) | I 4 tilstander |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Svært ofte (80–99 %) | I 4 tilstander |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Svært ofte (80–99 %) | I 3 tilstander |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Svært ofte (80–99 %) | I 4 tilstander |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Svært ofte (80–99 %) | I 2 tilstander |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Svært ofte (80–99 %) | I 3 tilstander |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Svært ofte (80–99 %) | I 4 tilstander |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Svært ofte (80–99 %) | I 4 tilstander |
| MYPNmyopalladin | Svært ofte (80–99 %) | I 2 tilstander |
| NEBnebulin | Svært ofte (80–99 %) | I 2 tilstander |
| PABPN1poly(A) binding protein nuclear 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PLECplectin | Svært ofte (80–99 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Svært ofte (80–99 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| POMT2protein O-mannosyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PUS1pseudouridine synthase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SELENONselenoprotein N | Svært ofte (80–99 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Svært ofte (80–99 %) | I 2 tilstander |
| SQSTM1sequestosome 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| TKFCtriokinase and FMN cyclase | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM43transmembrane protein 43 | Svært ofte (80–99 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Svært ofte (80–99 %) | I 2 tilstander |
| TPM3tropomyosin 3 | Svært ofte (80–99 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Svært ofte (80–99 %) | I 1 tilstand |
| TRMUtRNA mitochondrial 2-thiouridylase | Svært ofte (80–99 %) | I 1 tilstand |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Svært ofte (80–99 %) | I 1 tilstand |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Ofte (30–79 %) | I 2 tilstander |
| ACAD9acyl-CoA dehydrogenase family member 9 | Ofte (30–79 %) | I 1 tilstand |
| ACADSacyl-CoA dehydrogenase short chain | Ofte (30–79 %) | I 2 tilstander |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| COL13A1collagen type XIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Ofte (30–79 %) | I 2 tilstander |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ofte (30–79 %) | I 4 tilstander |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ofte (30–79 %) | I 4 tilstander |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 3 tilstander |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 4 tilstander |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| PGK1phosphoglycerate kinase 1 | Ofte (30–79 %) | I 2 tilstander |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| RYR1ryanodine receptor 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| TWNKtwinkle mtDNA helicase | Ofte (30–79 %) | I 2 tilstander |
| VPS13Avacuolar protein sorting 13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Noen ganger (5–29 %) | I 1 tilstand |
| ACADMacyl-CoA dehydrogenase medium chain | Noen ganger (5–29 %) | I 1 tilstand |
| ACTC1actin alpha cardiac muscle 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACTN2actinin alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDOAaldolase, fructose-bisphosphate A | Noen ganger (5–29 %) | I 1 tilstand |
| ANKRD1ankyrin repeat domain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BAG3BAG cochaperone 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BAG5BAG cochaperone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Noen ganger (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Noen ganger (5–29 %) | I 1 tilstand |
| CAP2cyclase associated actin cytoskeleton regulatory protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CFL2cofilin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COQ4coenzyme Q4 | Noen ganger (5–29 %) | I 1 tilstand |
| CRYABcrystallin alpha B | Noen ganger (5–29 %) | I 1 tilstand |
| CSRP3cysteine and glycine rich protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Noen ganger (5–29 %) | I 1 tilstand |
| DESdesmin | Noen ganger (5–29 %) | I 1 tilstand |
| DMDdystrophin | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 2 tilstander |
| DOLKdolichol kinase | Noen ganger (5–29 %) | I 1 tilstand |
| DSG2desmoglein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DSPdesmoplakin | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| FHL2four and a half LIM domains 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| FLNCfilamin C | Noen ganger (5–29 %) | I 2 tilstander |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| GATAD1GATA zinc finger domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GET3guided entry of tail-anchored proteins factor 3, ATPase | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HAND2heart and neural crest derivatives expressed 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| JPH2junctophilin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMA4laminin subunit alpha 4 | Noen ganger (5–29 %) | I 1 tilstand |
| LDB3LIM domain binding 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LMOD2leiomodin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Noen ganger (5–29 %) | I 3 tilstander |
| MT-CYBmitochondrially encoded cytochrome b | Noen ganger (5–29 %) | I 3 tilstander |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Noen ganger (5–29 %) | I 2 tilstander |
| MTAPmethylthioadenosine phosphorylase | Noen ganger (5–29 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Noen ganger (5–29 %) | I 1 tilstand |
| MYBPC3myosin binding protein C3 | Noen ganger (5–29 %) | I 2 tilstander |
| MYH6myosin heavy chain 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MYH7myosin heavy chain 7 | Noen ganger (5–29 %) | I 2 tilstander |
| MYMXmyomixer, myoblast fusion factor | Noen ganger (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Noen ganger (5–29 %) | I 1 tilstand |
| NEXNnexilin F-actin binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| NRAPnebulin related anchoring protein | Noen ganger (5–29 %) | I 1 tilstand |
| PDPNpodoplanin | Noen ganger (5–29 %) | I 1 tilstand |
| PLNphospholamban | Noen ganger (5–29 %) | I 1 tilstand |
| PPARGperoxisome proliferator activated receptor gamma | Noen ganger (5–29 %) | I 1 tilstand |
| PPCSphosphopantothenoylcysteine synthetase | Noen ganger (5–29 %) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Noen ganger (5–29 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Noen ganger (5–29 %) | I 2 tilstander |
| PRKCZprotein kinase C zeta | Noen ganger (5–29 %) | I 1 tilstand |
| PSEN1presenilin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PSEN2presenilin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| RBM20RNA binding motif protein 20 | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL3Lribosomal protein L3 like | Noen ganger (5–29 %) | I 1 tilstand |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| SGCDsarcoglycan delta | Noen ganger (5–29 %) | I 1 tilstand |
| SKISKI proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 1 tilstand |
| TAF1ATATA-box binding protein associated factor, RNA polymerase I subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Noen ganger (5–29 %) | I 1 tilstand |
| TBCEtubulin folding cofactor E | Noen ganger (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TCAPtitin-cap | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| TMPOthymopoietin | Noen ganger (5–29 %) | I 1 tilstand |
| TNNC1troponin C1, slow skeletal and cardiac type | Noen ganger (5–29 %) | I 1 tilstand |
| TNNI3troponin I3, cardiac type | Noen ganger (5–29 %) | I 1 tilstand |
| TNNT2troponin T2, cardiac type | Noen ganger (5–29 %) | I 1 tilstand |
| TPM1tropomyosin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TXNRD2thioredoxin reductase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Noen ganger (5–29 %) | I 1 tilstand |
| VCLvinculin | Noen ganger (5–29 %) | I 1 tilstand |
| VEZF1vascular endothelial zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Noen ganger (5–29 %) | I 1 tilstand |
| COL9A1collagen type IX alpha 1 chain | Sjelden (1–4%) | I 1 tilstand |
| COL9A2collagen type IX alpha 2 chain | Sjelden (1–4%) | I 1 tilstand |
| COL9A3collagen type IX alpha 3 chain | Sjelden (1–4%) | I 1 tilstand |
| SAR1Bsecretion associated Ras related GTPase 1B | Sjelden (1–4%) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Sjelden (1–4%) | I 1 tilstand |
| ACACAacetyl-CoA carboxylase alpha | Ikke registrert | I 1 tilstand |
| ADGRG6adhesion G protein-coupled receptor G6 | Ikke registrert | I 1 tilstand |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registrert | I 1 tilstand |
| ANO5anoctamin 5 | Ikke registrert | I 1 tilstand |
| C1QBPcomplement C1q binding protein | Ikke registrert | I 1 tilstand |
| CAPN3calpain 3 | Ikke registrert | I 1 tilstand |
| CCDC174coiled-coil domain containing 174 | Ikke registrert | I 1 tilstand |
| CENPFcentromere protein F | Ikke registrert | I 1 tilstand |
| CHKBcholine kinase beta | Ikke registrert | I 1 tilstand |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Ikke registrert | I 2 tilstander |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Ikke registrert | I 1 tilstand |
| CLCN1chloride voltage-gated channel 1 | Ikke registrert | I 1 tilstand |
| COL6A1collagen type VI alpha 1 chain | Ikke registrert | I 1 tilstand |
| DAG1dystroglycan 1 | Ikke registrert | I 1 tilstand |
| DYSFdysferlin | Ikke registrert | I 1 tilstand |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Ikke registrert | I 1 tilstand |
| FLAD1flavin adenine dinucleotide synthetase 1 | Ikke registrert | I 1 tilstand |
| GFERgrowth factor, augmenter of liver regeneration | Ikke registrert | I 1 tilstand |
| GKglycerol kinase | Ikke registrert | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Ikke registrert | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Ikke registrert | I 1 tilstand |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Ikke registrert | I 1 tilstand |
| ISCUiron-sulfur cluster assembly enzyme | Ikke registrert | I 1 tilstand |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Ikke registrert | I 1 tilstand |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Ikke registrert | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ikke registrert | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ikke registrert | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ikke registrert | I 1 tilstand |
| MYO18Bmyosin XVIIIB | Ikke registrert | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Ikke registrert | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Ikke registrert | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Ikke registrert | I 1 tilstand |
| NEFHneurofilament heavy chain | Ikke registrert | I 1 tilstand |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Ikke registrert | I 1 tilstand |
| PANK2pantothenate kinase 2 | Ikke registrert | I 1 tilstand |
| PGAM2phosphoglycerate mutase 2 | Ikke registrert | I 1 tilstand |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Ikke registrert | I 1 tilstand |
| RETret proto-oncogene | Ikke registrert | I 1 tilstand |
| RMND1required for meiotic nuclear division 1 homolog | Ikke registrert | I 1 tilstand |
| SLC22A5solute carrier family 22 member 5 | Ikke registrert | I 1 tilstand |
| STIM1stromal interaction molecule 1 | Ikke registrert | I 3 tilstander |
| TPI1triosephosphate isomerase 1 | Ikke registrert | I 1 tilstand |
| UBA1ubiquitin like modifier activating enzyme 1 | Ikke registrert | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Ikke registrert | I 1 tilstand |
| VCPvalosin containing protein | Ikke registrert | I 1 tilstand |
| VMA21vacuolar ATPase assembly factor VMA21 | Ikke registrert | I 1 tilstand |
| XDHxanthine dehydrogenase | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker