Kenmerk
Muscle tissue disease
Klinische naam: Myopathy
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Samenvatting
- Ook bekend als
- Myopathic changes
- Lichaamssysteem
- Abnormality of the musculoskeletal system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Muscle tissue disease voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ADSS1adenylosuccinate synthase 1 | Altijd | In 1 aandoening |
| AMPD1adenosine monophosphate deaminase 1 | Altijd | In 1 aandoening |
| B4GALT1beta-1,4-galactosyltransferase 1 | Altijd | In 1 aandoening |
| CAV3caveolin 3 | Altijd | In 3 aandoeningen |
| DNM1Ldynamin 1L | Altijd | In 2 aandoeningen |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Altijd | In 2 aandoeningen |
| FKBP14FKBP prolyl isomerase 14 | Altijd | In 2 aandoeningen |
| GUK1guanylate kinase 1 | Altijd | In 1 aandoening |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Altijd | In 1 aandoening |
| LMNAlamin A/C | Altijd | In 8 aandoeningen |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Altijd | In 1 aandoening |
| MYH2myosin heavy chain 2 | Altijd | In 1 aandoening |
| MYMKmyomaker, myoblast fusion factor | Altijd | In 2 aandoeningen |
| MYOD1myogenic differentiation 1 | Altijd | In 1 aandoening |
| NDC1NDC1 transmembrane nucleoporin | Altijd | In 1 aandoening |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Altijd | In 1 aandoening |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Altijd | In 1 aandoening |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Altijd | In 2 aandoeningen |
| RFC4replication factor C subunit 4 | Altijd | In 1 aandoening |
| RRM1ribonucleotide reductase catalytic subunit M1 | Altijd | In 2 aandoeningen |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Altijd | In 3 aandoeningen |
| SIL1SIL1 nucleotide exchange factor | Altijd | In 2 aandoeningen |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Altijd | In 2 aandoeningen |
| TNNT1troponin T1, slow skeletal type | Altijd | In 1 aandoening |
| TRIM63tripartite motif containing 63 | Altijd | In 1 aandoening |
| TTNtitin | Altijd | In 3 aandoeningen |
| ACTA1actin alpha 1, skeletal muscle | Heel vaak (80–99%) | In 3 aandoeningen |
| AGKacylglycerol kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| CASQ1calsequestrin 1 | Heel vaak (80–99%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Heel vaak (80–99%) | In 1 aandoening |
| EMDemerin | Heel vaak (80–99%) | In 2 aandoeningen |
| FDXRferredoxin reductase | Heel vaak (80–99%) | In 1 aandoening |
| FHL1four and a half LIM domains 1 | Heel vaak (80–99%) | In 1 aandoening |
| FKRPfukutin related protein | Heel vaak (80–99%) | In 1 aandoening |
| FKTNfukutin | Heel vaak (80–99%) | In 3 aandoeningen |
| GCLCglutamate-cysteine ligase catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| GMPPBGDP-mannose pyrophosphorylase B | Heel vaak (80–99%) | In 2 aandoeningen |
| KBTBD13kelch repeat and BTB domain containing 13 | Heel vaak (80–99%) | In 2 aandoeningen |
| KLHL41kelch like family member 41 | Heel vaak (80–99%) | In 2 aandoeningen |
Toon nog 240 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Heel vaak (80–99%) | In 5 aandoeningen |
| MT-RNR1mitochondrially encoded 12S rRNA | Heel vaak (80–99%) | In 1 aandoening |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Heel vaak (80–99%) | In 1 aandoening |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Heel vaak (80–99%) | In 4 aandoeningen |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Heel vaak (80–99%) | In 4 aandoeningen |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Heel vaak (80–99%) | In 3 aandoeningen |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Heel vaak (80–99%) | In 3 aandoeningen |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Heel vaak (80–99%) | In 4 aandoeningen |
| MYPNmyopalladin | Heel vaak (80–99%) | In 2 aandoeningen |
| NEBnebulin | Heel vaak (80–99%) | In 2 aandoeningen |
| PABPN1poly(A) binding protein nuclear 1 | Heel vaak (80–99%) | In 1 aandoening |
| PLECplectin | Heel vaak (80–99%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Heel vaak (80–99%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| POMT2protein O-mannosyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| PUS1pseudouridine synthase 1 | Heel vaak (80–99%) | In 1 aandoening |
| SELENONselenoprotein N | Heel vaak (80–99%) | In 1 aandoening |
| SLC25A4solute carrier family 25 member 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| SQSTM1sequestosome 1 | Heel vaak (80–99%) | In 1 aandoening |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Heel vaak (80–99%) | In 1 aandoening |
| TKFCtriokinase and FMN cyclase | Heel vaak (80–99%) | In 1 aandoening |
| TMEM43transmembrane protein 43 | Heel vaak (80–99%) | In 1 aandoening |
| TPM2tropomyosin 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| TPM3tropomyosin 3 | Heel vaak (80–99%) | In 1 aandoening |
| TRIM32tripartite motif containing 32 | Heel vaak (80–99%) | In 1 aandoening |
| TRMUtRNA mitochondrial 2-thiouridylase | Heel vaak (80–99%) | In 1 aandoening |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Heel vaak (80–99%) | In 1 aandoening |
| YARS2tyrosyl-tRNA synthetase 2 | Heel vaak (80–99%) | In 1 aandoening |
| ZBTB20zinc finger and BTB domain containing 20 | Heel vaak (80–99%) | In 1 aandoening |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| ACAD9acyl-CoA dehydrogenase family member 9 | Vaak (30–79%) | In 1 aandoening |
| ACADSacyl-CoA dehydrogenase short chain | Vaak (30–79%) | In 2 aandoeningen |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Vaak (30–79%) | In 2 aandoeningen |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Vaak (30–79%) | In 1 aandoening |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Vaak (30–79%) | In 1 aandoening |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Vaak (30–79%) | In 1 aandoening |
| CHST14carbohydrate sulfotransferase 14 | Vaak (30–79%) | In 1 aandoening |
| COL12A1collagen type XII alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| COL13A1collagen type XIII alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Vaak (30–79%) | In 2 aandoeningen |
| CPT2carnitine palmitoyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| DCCDCC netrin 1 receptor | Vaak (30–79%) | In 1 aandoening |
| DNA2DNA replication helicase/nuclease 2 | Vaak (30–79%) | In 2 aandoeningen |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Vaak (30–79%) | In 1 aandoening |
| DSEdermatan sulfate epimerase | Vaak (30–79%) | In 1 aandoening |
| EPG5ectopic P-granules 5 autophagy tethering factor | Vaak (30–79%) | In 1 aandoening |
| GATMglycine amidinotransferase | Vaak (30–79%) | In 1 aandoening |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Vaak (30–79%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Vaak (30–79%) | In 2 aandoeningen |
| LAMB2laminin subunit beta 2 | Vaak (30–79%) | In 1 aandoening |
| LIPElipase E, hormone sensitive type | Vaak (30–79%) | In 1 aandoening |
| LMNB2lamin B2 | Vaak (30–79%) | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Vaak (30–79%) | In 1 aandoening |
| MGME1mitochondrial genome maintenance exonuclease 1 | Vaak (30–79%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Vaak (30–79%) | In 3 aandoeningen |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Vaak (30–79%) | In 2 aandoeningen |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Vaak (30–79%) | In 4 aandoeningen |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Vaak (30–79%) | In 4 aandoeningen |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Vaak (30–79%) | In 3 aandoeningen |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Vaak (30–79%) | In 4 aandoeningen |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Vaak (30–79%) | In 2 aandoeningen |
| MYH14myosin heavy chain 14 | Vaak (30–79%) | In 1 aandoening |
| NAXDNAD(P)HX dehydratase | Vaak (30–79%) | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Vaak (30–79%) | In 3 aandoeningen |
| PGK1phosphoglycerate kinase 1 | Vaak (30–79%) | In 2 aandoeningen |
| POLGDNA polymerase gamma, catalytic subunit | Vaak (30–79%) | In 4 aandoeningen |
| POLG2DNA polymerase gamma 2, accessory subunit | Vaak (30–79%) | In 1 aandoening |
| POLRMTRNA polymerase mitochondrial | Vaak (30–79%) | In 1 aandoening |
| ROBO3roundabout guidance receptor 3 | Vaak (30–79%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Vaak (30–79%) | In 2 aandoeningen |
| RYR1ryanodine receptor 1 | Vaak (30–79%) | In 2 aandoeningen |
| SCO2synthesis of cytochrome C oxidase 2 | Vaak (30–79%) | In 1 aandoening |
| SGCBsarcoglycan beta | Vaak (30–79%) | In 1 aandoening |
| SLC25A3solute carrier family 25 member 3 | Vaak (30–79%) | In 1 aandoening |
| TK2thymidine kinase 2 | Vaak (30–79%) | In 1 aandoening |
| TOP3ADNA topoisomerase III alpha | Vaak (30–79%) | In 1 aandoening |
| TRAPPC11trafficking protein particle complex subunit 11 | Vaak (30–79%) | In 2 aandoeningen |
| TWNKtwinkle mtDNA helicase | Vaak (30–79%) | In 2 aandoeningen |
| VPS13Avacuolar protein sorting 13 homolog A | Vaak (30–79%) | In 1 aandoening |
| ABCC9ATP binding cassette subfamily C member 9 | Soms (5–29%) | In 1 aandoening |
| ACADMacyl-CoA dehydrogenase medium chain | Soms (5–29%) | In 1 aandoening |
| ACTC1actin alpha cardiac muscle 1 | Soms (5–29%) | In 1 aandoening |
| ACTN2actinin alpha 2 | Soms (5–29%) | In 1 aandoening |
| ALDOAaldolase, fructose-bisphosphate A | Soms (5–29%) | In 1 aandoening |
| ANKRD1ankyrin repeat domain 1 | Soms (5–29%) | In 1 aandoening |
| BAG3BAG cochaperone 3 | Soms (5–29%) | In 1 aandoening |
| BAG5BAG cochaperone 5 | Soms (5–29%) | In 1 aandoening |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Soms (5–29%) | In 1 aandoening |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Soms (5–29%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Soms (5–29%) | In 1 aandoening |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Soms (5–29%) | In 1 aandoening |
| CAP2cyclase associated actin cytoskeleton regulatory protein 2 | Soms (5–29%) | In 1 aandoening |
| CASZ1castor zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| CFL2cofilin 2 | Soms (5–29%) | In 1 aandoening |
| CISD2CDGSH iron sulfur domain 2 | Soms (5–29%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Soms (5–29%) | In 1 aandoening |
| COQ4coenzyme Q4 | Soms (5–29%) | In 1 aandoening |
| CRYABcrystallin alpha B | Soms (5–29%) | In 1 aandoening |
| CSRP3cysteine and glycine rich protein 3 | Soms (5–29%) | In 1 aandoening |
| CTNScystinosin, lysosomal cystine transporter | Soms (5–29%) | In 1 aandoening |
| DESdesmin | Soms (5–29%) | In 1 aandoening |
| DMDdystrophin | Soms (5–29%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Soms (5–29%) | In 2 aandoeningen |
| DOLKdolichol kinase | Soms (5–29%) | In 1 aandoening |
| DSG2desmoglein 2 | Soms (5–29%) | In 1 aandoening |
| DSPdesmoplakin | Soms (5–29%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Soms (5–29%) | In 1 aandoening |
| ELNelastin | Soms (5–29%) | In 1 aandoening |
| FHL2four and a half LIM domains 2 | Soms (5–29%) | In 1 aandoening |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Soms (5–29%) | In 1 aandoening |
| FLNCfilamin C | Soms (5–29%) | In 2 aandoeningen |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Soms (5–29%) | In 1 aandoening |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Soms (5–29%) | In 1 aandoening |
| GATAD1GATA zinc finger domain containing 1 | Soms (5–29%) | In 1 aandoening |
| GET3guided entry of tail-anchored proteins factor 3, ATPase | Soms (5–29%) | In 1 aandoening |
| GTF2Igeneral transcription factor IIi | Soms (5–29%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Soms (5–29%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Soms (5–29%) | In 1 aandoening |
| HAND2heart and neural crest derivatives expressed 2 | Soms (5–29%) | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| JPH2junctophilin 2 | Soms (5–29%) | In 1 aandoening |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Soms (5–29%) | In 1 aandoening |
| LAMA4laminin subunit alpha 4 | Soms (5–29%) | In 1 aandoening |
| LDB3LIM domain binding 3 | Soms (5–29%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Soms (5–29%) | In 1 aandoening |
| LMOD2leiomodin 2 | Soms (5–29%) | In 1 aandoening |
| LMOD3leiomodin 3 | Soms (5–29%) | In 1 aandoening |
| LUZP1leucine zipper protein 1 | Soms (5–29%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Soms (5–29%) | In 1 aandoening |
| MMP23Bmatrix metallopeptidase 23B | Soms (5–29%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Soms (5–29%) | In 3 aandoeningen |
| MT-CYBmitochondrially encoded cytochrome b | Soms (5–29%) | In 3 aandoeningen |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Soms (5–29%) | In 2 aandoeningen |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Soms (5–29%) | In 2 aandoeningen |
| MTAPmethylthioadenosine phosphorylase | Soms (5–29%) | In 1 aandoening |
| MTTPmicrosomal triglyceride transfer protein | Soms (5–29%) | In 1 aandoening |
| MYBPC3myosin binding protein C3 | Soms (5–29%) | In 2 aandoeningen |
| MYH6myosin heavy chain 6 | Soms (5–29%) | In 1 aandoening |
| MYH7myosin heavy chain 7 | Soms (5–29%) | In 2 aandoeningen |
| MYMXmyomixer, myoblast fusion factor | Soms (5–29%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Soms (5–29%) | In 1 aandoening |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Soms (5–29%) | In 1 aandoening |
| NEXNnexilin F-actin binding protein | Soms (5–29%) | In 1 aandoening |
| NRAPnebulin related anchoring protein | Soms (5–29%) | In 1 aandoening |
| PDPNpodoplanin | Soms (5–29%) | In 1 aandoening |
| PLNphospholamban | Soms (5–29%) | In 1 aandoening |
| PPARGperoxisome proliferator activated receptor gamma | Soms (5–29%) | In 1 aandoening |
| PPCSphosphopantothenoylcysteine synthetase | Soms (5–29%) | In 1 aandoening |
| PPIBpeptidylprolyl isomerase B | Soms (5–29%) | In 1 aandoening |
| PRDM16PR/SET domain 16 | Soms (5–29%) | In 2 aandoeningen |
| PRKCZprotein kinase C zeta | Soms (5–29%) | In 1 aandoening |
| PSEN1presenilin 1 | Soms (5–29%) | In 1 aandoening |
| PSEN2presenilin 2 | Soms (5–29%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Soms (5–29%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| RBM20RNA binding motif protein 20 | Soms (5–29%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | Soms (5–29%) | In 1 aandoening |
| RPL3Lribosomal protein L3 like | Soms (5–29%) | In 1 aandoening |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Soms (5–29%) | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Soms (5–29%) | In 1 aandoening |
| SGCDsarcoglycan delta | Soms (5–29%) | In 1 aandoening |
| SKISKI proto-oncogene | Soms (5–29%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| STX1Asyntaxin 1A | Soms (5–29%) | In 1 aandoening |
| TAF1ATATA-box binding protein associated factor, RNA polymerase I subunit A | Soms (5–29%) | In 1 aandoening |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Soms (5–29%) | In 1 aandoening |
| TBCEtubulin folding cofactor E | Soms (5–29%) | In 1 aandoening |
| TBL2transducin beta like 2 | Soms (5–29%) | In 1 aandoening |
| TCAPtitin-cap | Soms (5–29%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Soms (5–29%) | In 1 aandoening |
| TMPOthymopoietin | Soms (5–29%) | In 1 aandoening |
| TNNC1troponin C1, slow skeletal and cardiac type | Soms (5–29%) | In 1 aandoening |
| TNNI3troponin I3, cardiac type | Soms (5–29%) | In 1 aandoening |
| TNNT2troponin T2, cardiac type | Soms (5–29%) | In 1 aandoening |
| TPM1tropomyosin 1 | Soms (5–29%) | In 1 aandoening |
| TXNRD2thioredoxin reductase 2 | Soms (5–29%) | In 1 aandoening |
| UBE4Bubiquitination factor E4B | Soms (5–29%) | In 1 aandoening |
| VCLvinculin | Soms (5–29%) | In 1 aandoening |
| VEZF1vascular endothelial zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Soms (5–29%) | In 1 aandoening |
| WFS1wolframin ER transmembrane glycoprotein | Soms (5–29%) | In 1 aandoening |
| COL9A1collagen type IX alpha 1 chain | Zelden (1–4%) | In 1 aandoening |
| COL9A2collagen type IX alpha 2 chain | Zelden (1–4%) | In 1 aandoening |
| COL9A3collagen type IX alpha 3 chain | Zelden (1–4%) | In 1 aandoening |
| SAR1Bsecretion associated Ras related GTPase 1B | Zelden (1–4%) | In 1 aandoening |
| SDHDsuccinate dehydrogenase complex subunit D | Zelden (1–4%) | In 1 aandoening |
| ACACAacetyl-CoA carboxylase alpha | Niet vastgelegd | In 1 aandoening |
| ADGRG6adhesion G protein-coupled receptor G6 | Niet vastgelegd | In 1 aandoening |
| ALPLalkaline phosphatase, biomineralization associated | Niet vastgelegd | In 1 aandoening |
| ANO5anoctamin 5 | Niet vastgelegd | In 1 aandoening |
| C1QBPcomplement C1q binding protein | Niet vastgelegd | In 1 aandoening |
| CAPN3calpain 3 | Niet vastgelegd | In 1 aandoening |
| CCDC174coiled-coil domain containing 174 | Niet vastgelegd | In 1 aandoening |
| CENPFcentromere protein F | Niet vastgelegd | In 1 aandoening |
| CHKBcholine kinase beta | Niet vastgelegd | In 1 aandoening |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Niet vastgelegd | In 2 aandoeningen |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Niet vastgelegd | In 1 aandoening |
| CLCN1chloride voltage-gated channel 1 | Niet vastgelegd | In 1 aandoening |
| COL6A1collagen type VI alpha 1 chain | Niet vastgelegd | In 1 aandoening |
| DAG1dystroglycan 1 | Niet vastgelegd | In 1 aandoening |
| DYSFdysferlin | Niet vastgelegd | In 1 aandoening |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Niet vastgelegd | In 1 aandoening |
| FLAD1flavin adenine dinucleotide synthetase 1 | Niet vastgelegd | In 1 aandoening |
| GFERgrowth factor, augmenter of liver regeneration | Niet vastgelegd | In 1 aandoening |
| GKglycerol kinase | Niet vastgelegd | In 1 aandoening |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Niet vastgelegd | In 1 aandoening |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Niet vastgelegd | In 1 aandoening |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Niet vastgelegd | In 1 aandoening |
| ISCUiron-sulfur cluster assembly enzyme | Niet vastgelegd | In 1 aandoening |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Niet vastgelegd | In 1 aandoening |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Niet vastgelegd | In 1 aandoening |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Niet vastgelegd | In 1 aandoening |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Niet vastgelegd | In 1 aandoening |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Niet vastgelegd | In 1 aandoening |
| MYO18Bmyosin XVIIIB | Niet vastgelegd | In 1 aandoening |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Niet vastgelegd | In 1 aandoening |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Niet vastgelegd | In 1 aandoening |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Niet vastgelegd | In 1 aandoening |
| NEFHneurofilament heavy chain | Niet vastgelegd | In 1 aandoening |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Niet vastgelegd | In 1 aandoening |
| PANK2pantothenate kinase 2 | Niet vastgelegd | In 1 aandoening |
| PGAM2phosphoglycerate mutase 2 | Niet vastgelegd | In 1 aandoening |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Niet vastgelegd | In 1 aandoening |
| RETret proto-oncogene | Niet vastgelegd | In 1 aandoening |
| RMND1required for meiotic nuclear division 1 homolog | Niet vastgelegd | In 1 aandoening |
| SLC22A5solute carrier family 22 member 5 | Niet vastgelegd | In 1 aandoening |
| STIM1stromal interaction molecule 1 | Niet vastgelegd | In 3 aandoeningen |
| TPI1triosephosphate isomerase 1 | Niet vastgelegd | In 1 aandoening |
| UBA1ubiquitin like modifier activating enzyme 1 | Niet vastgelegd | In 1 aandoening |
| VAMP1vesicle associated membrane protein 1 | Niet vastgelegd | In 1 aandoening |
| VCPvalosin containing protein | Niet vastgelegd | In 1 aandoening |
| VMA21vacuolar ATPase assembly factor VMA21 | Niet vastgelegd | In 1 aandoening |
| XDHxanthine dehydrogenase | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
Eén test. Een leven lang antwoorden.
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