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Kenmerk
Muscle weakness
Reduced strength of muscles.
Samenvatting
- Ook bekend als
- Muscular weakness
- Lichaamssysteem
- Abnormality of the musculoskeletal system
Muscle weaknessHP:0001324
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Mijn Genome Test bestellen540 genen gekoppeld aan Muscle weakness
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Muscle weakness 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 |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Altijd | In 2 aandoeningen |
| ADKadenosine kinase | Altijd | In 1 aandoening |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Altijd | In 2 aandoeningen |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Altijd | In 2 aandoeningen |
| ALDOAaldolase, fructose-bisphosphate A | Altijd | In 2 aandoeningen |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Altijd | In 4 aandoeningen |
| AMPD1adenosine monophosphate deaminase 1 | Altijd | In 1 aandoening |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Altijd | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Altijd | In 2 aandoeningen |
| ATP6V1B1ATPase H+ transporting V1 subunit B1 | Altijd | In 1 aandoening |
| ATP9AATPase phospholipid transporting 9A | Altijd | In 1 aandoening |
| BORCS8BLOC-1 related complex subunit 8 | Altijd | In 1 aandoening |
| C19orf12chromosome 19 open reading frame 12 | Altijd | In 1 aandoening |
| CCDC78coiled-coil domain containing 78 | Altijd | In 1 aandoening |
| CFL2cofilin 2 | Altijd | In 1 aandoening |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Altijd | In 1 aandoening |
| CHKBcholine kinase beta | Altijd | In 1 aandoening |
| CLCN1chloride voltage-gated channel 1 | Altijd | In 1 aandoening |
| CLDN16claudin 16 | Altijd | In 1 aandoening |
| CNTN1contactin 1 | Altijd | In 1 aandoening |
| COL12A1collagen type XII alpha 1 chain | Altijd | In 3 aandoeningen |
| COL6A2collagen type VI alpha 2 chain | Altijd | In 3 aandoeningen |
| COL6A3collagen type VI alpha 3 chain | Altijd | In 3 aandoeningen |
| COQ4coenzyme Q4 | Altijd | In 1 aandoening |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Altijd | In 1 aandoening |
| COX6A2cytochrome c oxidase subunit 6A2 | Altijd | In 1 aandoening |
| COX6B1cytochrome c oxidase subunit 6B1 | Altijd | In 1 aandoening |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Altijd | In 2 aandoeningen |
| DMDdystrophin | Altijd | In 3 aandoeningen |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Altijd | In 2 aandoeningen |
| DSTdystonin | Altijd | In 1 aandoening |
| EXOSC5exosome component 5 | Altijd | In 1 aandoening |
| FAM111BFAM111 trypsin like peptidase B | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 1 aandoening |
| FKBP14FKBP prolyl isomerase 14 | Altijd | In 2 aandoeningen |
| FUCA1alpha-L-fucosidase 1 | Altijd | In 1 aandoening |
| GAAalpha glucosidase | Altijd | In 2 aandoeningen |
| GARS1glycyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| GMPPBGDP-mannose pyrophosphorylase B | Altijd | In 3 aandoeningen |
| GYG1glycogenin 1 | Altijd | In 1 aandoening |
Toon nog 500 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Altijd | In 2 aandoeningen |
| ITGA7integrin subunit alpha 7 | Altijd | In 1 aandoening |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Altijd | In 1 aandoening |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Altijd | In 2 aandoeningen |
| KLHL40kelch like family member 40 | Altijd | In 1 aandoening |
| KYkyphoscoliosis peptidase | Altijd | In 1 aandoening |
| LAMA2laminin subunit alpha 2 | Altijd | In 2 aandoeningen |
| LAMP2lysosome associated membrane protein 2 | Altijd | In 2 aandoeningen |
| LMOD3leiomodin 3 | Altijd | In 1 aandoening |
| LPIN1lipin 1 | Altijd | In 2 aandoeningen |
| LRP12LDL receptor related protein 12 | Altijd | In 2 aandoeningen |
| LRP4LDL receptor related protein 4 | Altijd | In 1 aandoening |
| LRRC7leucine rich repeat containing 7 | Altijd | In 1 aandoening |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Altijd | In 1 aandoening |
| MDH2malate dehydrogenase 2 | Altijd | In 1 aandoening |
| MFFmitochondrial fission factor | Altijd | In 2 aandoeningen |
| MPZmyelin protein zero | Altijd | In 2 aandoeningen |
| MRPL12mitochondrial ribosomal protein L12 | Altijd | In 1 aandoening |
| MYMXmyomixer, myoblast fusion factor | Altijd | In 1 aandoening |
| MYPNmyopalladin | Altijd | In 1 aandoening |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Altijd | In 2 aandoeningen |
| NSUN3NOP2/Sun RNA methyltransferase 3 | Altijd | In 1 aandoening |
| OPTNoptineurin | Altijd | In 1 aandoening |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Altijd | In 1 aandoening |
| PEX13peroxisomal biogenesis factor 13 | Altijd | In 1 aandoening |
| PGK1phosphoglycerate kinase 1 | Altijd | In 2 aandoeningen |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Altijd | In 2 aandoeningen |
| PMM2phosphomannomutase 2 | Altijd | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Altijd | In 2 aandoeningen |
| PSAPprosaposin | Altijd | In 5 aandoeningen |
| PTCRApre T cell antigen receptor alpha | Altijd | In 1 aandoening |
| PUS1pseudouridine synthase 1 | Altijd | In 1 aandoening |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Altijd | In 1 aandoening |
| RBSNrabenosyn, RAB effector | Altijd | In 2 aandoeningen |
| RCC1regulator of chromosome condensation 1 | Altijd | In 1 aandoening |
| RFC4replication factor C subunit 4 | Altijd | In 1 aandoening |
| RNASEH1ribonuclease H1 | Altijd | In 1 aandoening |
| RYR1ryanodine receptor 1 | Altijd | In 3 aandoeningen |
| SARS1seryl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Altijd | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Altijd | In 1 aandoening |
| SERPING1serpin family G member 1 | Altijd | In 1 aandoening |
| SLC12A6solute carrier family 12 member 6 | Altijd | In 1 aandoening |
| SPEGstriated muscle enriched protein kinase | Altijd | In 1 aandoening |
| STAC3SH3 and cysteine rich domain 3 | Altijd | In 2 aandoeningen |
| TBCDtubulin folding cofactor D | Altijd | In 2 aandoeningen |
| TFGtrafficking from ER to golgi regulator | Altijd | In 1 aandoening |
| TNNC2troponin C2, fast skeletal type | Altijd | In 1 aandoening |
| TOE1target of EGR1, exonuclease | Altijd | In 1 aandoening |
| TOR1AIP1torsin 1A interacting protein 1 | Altijd | In 1 aandoening |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Altijd | In 1 aandoening |
| TRIM2tripartite motif containing 2 | Altijd | In 1 aandoening |
| TRIP4thyroid hormone receptor interactor 4 | Altijd | In 1 aandoening |
| TRMT5tRNA methyltransferase 5 | Altijd | In 1 aandoening |
| TRU-TCA1-1tRNA-SeC (anticodon TCA) 1-1 | Altijd | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Altijd | In 2 aandoeningen |
| UQCC3ubiquinol-cytochrome c reductase complex assembly factor 3 | Altijd | In 1 aandoening |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Altijd | In 1 aandoening |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| VCPvalosin containing protein | Altijd | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altijd | In 2 aandoeningen |
| ALAS25'-aminolevulinate synthase 2 | Heel vaak (80–99%) | In 1 aandoening |
| ATL1atlastin GTPase 1 | Heel vaak (80–99%) | In 1 aandoening |
| ATL3atlastin GTPase 3 | Heel vaak (80–99%) | In 1 aandoening |
| ATP13A2ATPase cation transporting 13A2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Heel vaak (80–99%) | In 1 aandoening |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Heel vaak (80–99%) | In 2 aandoeningen |
| CBLCbl proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| CEP126centrosomal protein 126 | Heel vaak (80–99%) | In 1 aandoening |
| CHST14carbohydrate sulfotransferase 14 | Heel vaak (80–99%) | In 1 aandoening |
| COL4A1collagen type IV alpha 1 chain | Heel vaak (80–99%) | In 1 aandoening |
| COL6A1collagen type VI alpha 1 chain | Heel vaak (80–99%) | In 2 aandoeningen |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Heel vaak (80–99%) | In 2 aandoeningen |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| DAG1dystroglycan 1 | Heel vaak (80–99%) | In 1 aandoening |
| DSEdermatan sulfate epimerase | Heel vaak (80–99%) | In 1 aandoening |
| ERLIN1ER lipid raft associated 1 | Heel vaak (80–99%) | In 1 aandoening |
| ERLIN2ER lipid raft associated 2 | Heel vaak (80–99%) | In 1 aandoening |
| EXOSC3exosome component 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| EXOSC8exosome component 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| EXOSC9exosome component 9 | Heel vaak (80–99%) | In 2 aandoeningen |
| FKRPfukutin related protein | Heel vaak (80–99%) | In 2 aandoeningen |
| FKTNfukutin | Heel vaak (80–99%) | In 2 aandoeningen |
| FOXE1forkhead box E1 | Heel vaak (80–99%) | In 1 aandoening |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| FUSFUS RNA binding protein | Heel vaak (80–99%) | In 1 aandoening |
| GBE11,4-alpha-glucan branching enzyme 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| IFRD1interferon related developmental regulator 1 | Heel vaak (80–99%) | In 1 aandoening |
| KIF1Akinesin family member 1A | Heel vaak (80–99%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Heel vaak (80–99%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MRASmuscle RAS oncogene homolog | Heel vaak (80–99%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Heel vaak (80–99%) | In 1 aandoening |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| 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 2 aandoeningen |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Heel vaak (80–99%) | In 2 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-TQmitochondrially encoded tRNA-Gln (CAA/G) | Heel vaak (80–99%) | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Heel vaak (80–99%) | In 2 aandoeningen |
| NAGAalpha-N-acetylgalactosaminidase | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Heel vaak (80–99%) | In 1 aandoening |
| NKX2-1NK2 homeobox 1 | Heel vaak (80–99%) | In 1 aandoening |
| NKX2-5NK2 homeobox 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| NRASNRAS proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Heel vaak (80–99%) | In 1 aandoening |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Heel vaak (80–99%) | In 1 aandoening |
| PAX8paired box 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| PLP1proteolipid protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Heel vaak (80–99%) | In 2 aandoeningen |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Heel vaak (80–99%) | In 1 aandoening |
| POMKprotein O-mannose kinase | Heel vaak (80–99%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PRRT2proline rich transmembrane protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Heel vaak (80–99%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 1 aandoening |
| RASA2RAS p21 protein activator 2 | Heel vaak (80–99%) | In 1 aandoening |
| RIT1Ras like without CAAX 1 | Heel vaak (80–99%) | In 1 aandoening |
| RRASRAS related | Heel vaak (80–99%) | In 1 aandoening |
| RRAS2RAS related 2 | Heel vaak (80–99%) | In 1 aandoening |
| RXYLT1ribitol xylosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| SEPHS1selenophosphate synthetase 1 | Heel vaak (80–99%) | In 1 aandoening |
| SIGMAR1sigma receptor chaperone 1 | Heel vaak (80–99%) | In 1 aandoening |
| SLC22A5solute carrier family 22 member 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC25A20solute carrier family 25 member 20 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC25A46solute carrier family 25 member 46 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC26A4solute carrier family 26 member 4 | Heel vaak (80–99%) | In 1 aandoening |
| SORDsorbitol dehydrogenase | Heel vaak (80–99%) | In 1 aandoening |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Heel vaak (80–99%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| TARDBPTAR DNA binding protein | Heel vaak (80–99%) | In 2 aandoeningen |
| TIMM50translocase of inner mitochondrial membrane 50 | Heel vaak (80–99%) | In 2 aandoeningen |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM126Btransmembrane protein 126B | Heel vaak (80–99%) | In 2 aandoeningen |
| TRMT2BtRNA methyltransferase 2B | Heel vaak (80–99%) | In 1 aandoening |
| TRMUtRNA mitochondrial 2-thiouridylase | Heel vaak (80–99%) | In 1 aandoening |
| TSHRthyroid stimulating hormone receptor | Heel vaak (80–99%) | In 1 aandoening |
| TTPAalpha tocopherol transfer protein | Heel vaak (80–99%) | In 1 aandoening |
| UBQLN2ubiquilin 2 | Heel vaak (80–99%) | In 1 aandoening |
| VRK1VRK serine/threonine kinase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| ABCA2ATP binding cassette subfamily A member 2 | Vaak (30–79%) | In 1 aandoening |
| ADA2adenosine deaminase 2 | Vaak (30–79%) | In 1 aandoening |
| ALADaminolevulinate dehydratase | Vaak (30–79%) | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Vaak (30–79%) | In 2 aandoeningen |
| ANK1ankyrin 1 | Vaak (30–79%) | In 1 aandoening |
| ARSAarylsulfatase A | Vaak (30–79%) | In 3 aandoeningen |
| ATG7autophagy related 7 | Vaak (30–79%) | In 1 aandoening |
| ATP5F1AATP synthase F1 subunit alpha | Vaak (30–79%) | In 1 aandoening |
| ATP5F1DATP synthase F1 subunit delta | Vaak (30–79%) | In 2 aandoeningen |
| ATP5F1EATP synthase F1 subunit epsilon | Vaak (30–79%) | In 1 aandoening |
| ATP5MKATP synthase membrane subunit k | Vaak (30–79%) | In 1 aandoening |
| ATP5POATP synthase peripheral stalk subunit OSCP | Vaak (30–79%) | In 1 aandoening |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Vaak (30–79%) | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Vaak (30–79%) | In 1 aandoening |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Vaak (30–79%) | In 1 aandoening |
| ATRXATRX chromatin remodeler | Vaak (30–79%) | In 1 aandoening |
| ATXN7ataxin 7 | Vaak (30–79%) | In 1 aandoening |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| BCORBCL6 corepressor | Vaak (30–79%) | In 1 aandoening |
| BSNDbarttin CLCNK type accessory subunit beta | Vaak (30–79%) | In 1 aandoening |
| CASP2caspase 2 | Vaak (30–79%) | In 1 aandoening |
| CAV1caveolin 1 | Vaak (30–79%) | In 1 aandoening |
| CAVIN1caveolae associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| CCM2CCM2 scaffold protein | Vaak (30–79%) | In 1 aandoening |
| CCN2cellular communication network factor 2 | Vaak (30–79%) | In 1 aandoening |
| CCN6cellular communication network factor 6 | Vaak (30–79%) | In 2 aandoeningen |
| CCR6C-C motif chemokine receptor 6 | Vaak (30–79%) | In 1 aandoening |
| CDH23cadherin related 23 | Vaak (30–79%) | In 1 aandoening |
| CDKN2Acyclin dependent kinase inhibitor 2A | Vaak (30–79%) | In 1 aandoening |
| CLCNKAchloride voltage-gated channel Ka | Vaak (30–79%) | In 1 aandoening |
| CLCNKBchloride voltage-gated channel Kb | Vaak (30–79%) | In 2 aandoeningen |
| COL1A1collagen type I alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL5A1collagen type V alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL5A2collagen type V alpha 2 chain | Vaak (30–79%) | In 1 aandoening |
| CPT2carnitine palmitoyltransferase 2 | Vaak (30–79%) | In 3 aandoeningen |
| CTNNB1catenin beta 1 | Vaak (30–79%) | In 1 aandoening |
| EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| EPB42erythrocyte membrane protein band 4.2 | Vaak (30–79%) | In 1 aandoening |
| EXOC8exocyst complex component 8 | Vaak (30–79%) | In 1 aandoening |
| FGF23fibroblast growth factor 23 | Vaak (30–79%) | In 1 aandoening |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Vaak (30–79%) | In 1 aandoening |
| FMR1fragile X messenger ribonucleoprotein 1 | Vaak (30–79%) | In 1 aandoening |
| FOXC2forkhead box C2 | Vaak (30–79%) | In 1 aandoening |
| FXNfrataxin | Vaak (30–79%) | In 1 aandoening |
| GATMglycine amidinotransferase | Vaak (30–79%) | In 3 aandoeningen |
| GCKglucokinase | Vaak (30–79%) | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Vaak (30–79%) | In 1 aandoening |
| GOSR2golgi SNAP receptor complex member 2 | Vaak (30–79%) | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| GYS1glycogen synthase 1 | Vaak (30–79%) | In 1 aandoening |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Vaak (30–79%) | In 1 aandoening |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Vaak (30–79%) | In 1 aandoening |
| HAMPhepcidin antimicrobial peptide | Vaak (30–79%) | In 1 aandoening |
| HIVEP2HIVEP zinc finger 2 | Vaak (30–79%) | In 1 aandoening |
| HJVhemojuvelin BMP co-receptor | Vaak (30–79%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Vaak (30–79%) | In 2 aandoeningen |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Vaak (30–79%) | In 3 aandoeningen |
| IBA57iron-sulfur cluster assembly factor IBA57 | Vaak (30–79%) | In 1 aandoening |
| IL12Binterleukin 12B | Vaak (30–79%) | In 1 aandoening |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| IRF5interferon regulatory factor 5 | Vaak (30–79%) | In 1 aandoening |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Vaak (30–79%) | In 2 aandoeningen |
| KRIT1KRIT1 ankyrin repeat containing | Vaak (30–79%) | In 1 aandoening |
| L1CAML1 cell adhesion molecule | Vaak (30–79%) | In 1 aandoening |
| LEMD2LEM domain nuclear envelope protein 2 | Vaak (30–79%) | In 1 aandoening |
| LIPElipase E, hormone sensitive type | Vaak (30–79%) | In 1 aandoening |
| LMNB1lamin B1 | Vaak (30–79%) | In 1 aandoening |
| LRPPRCleucine rich pentatricopeptide repeat containing | Vaak (30–79%) | In 1 aandoening |
| LYRM7LYR motif containing 7 | Vaak (30–79%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Vaak (30–79%) | In 1 aandoening |
| MLXMAX dimerization protein MLX | Vaak (30–79%) | In 1 aandoening |
| MPV17mitochondrial inner membrane protein MPV17 | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 2 aandoeningen |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Vaak (30–79%) | In 2 aandoeningen |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Vaak (30–79%) | In 1 aandoening |
| MYH7myosin heavy chain 7 | Vaak (30–79%) | In 2 aandoeningen |
| NABP1nucleic acid binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 2 aandoeningen |
| NDC1NDC1 transmembrane nucleoporin | Vaak (30–79%) | In 1 aandoening |
| NEU1neuraminidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| NFE2L2NFE2 like bZIP transcription factor 2 | Vaak (30–79%) | In 1 aandoening |
| NFU1NFU1 iron-sulfur cluster scaffold | Vaak (30–79%) | In 1 aandoening |
| NOP56NOP56 ribonucleoprotein | Vaak (30–79%) | In 1 aandoening |
| NOTCH2NLCnotch 2 N-terminal like C | Vaak (30–79%) | In 1 aandoening |
| NPM1nucleophosmin 1 | Vaak (30–79%) | In 1 aandoening |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Vaak (30–79%) | In 1 aandoening |
| NTNG2netrin G2 | Vaak (30–79%) | In 1 aandoening |
| NUMA1nuclear mitotic apparatus protein 1 | Vaak (30–79%) | In 1 aandoening |
| PDCD10programmed cell death 10 | Vaak (30–79%) | In 1 aandoening |
| PFKMphosphofructokinase, muscle | Vaak (30–79%) | In 2 aandoeningen |
| PGAP2post-GPI attachment to proteins 2 | Vaak (30–79%) | In 1 aandoening |
| PGM2L1phosphoglucomutase 2 like 1 | Vaak (30–79%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Vaak (30–79%) | In 1 aandoening |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Vaak (30–79%) | In 1 aandoening |
| PMLPML nuclear body scaffold | Vaak (30–79%) | In 1 aandoening |
| PMP22peripheral myelin protein 22 | Vaak (30–79%) | In 2 aandoeningen |
| PMPCApeptidase, mitochondrial processing subunit alpha | Vaak (30–79%) | In 1 aandoening |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| PPOXprotoporphyrinogen oxidase | Vaak (30–79%) | In 1 aandoening |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Vaak (30–79%) | In 3 aandoeningen |
| PRNPprion protein (Kanno blood group) | Vaak (30–79%) | In 1 aandoening |
| RARAretinoic acid receptor alpha | Vaak (30–79%) | In 1 aandoening |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Vaak (30–79%) | In 1 aandoening |
| RPS6KC1ribosomal protein S6 kinase C1 | Vaak (30–79%) | In 1 aandoening |
| SACSsacsin molecular chaperone | Vaak (30–79%) | In 1 aandoening |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Vaak (30–79%) | In 3 aandoeningen |
| SCNN1Asodium channel epithelial 1 subunit alpha | Vaak (30–79%) | In 1 aandoening |
| SCNN1Bsodium channel epithelial 1 subunit beta | Vaak (30–79%) | In 1 aandoening |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Vaak (30–79%) | In 1 aandoening |
| SLC12A3solute carrier family 12 member 3 | Vaak (30–79%) | In 2 aandoeningen |
| SLC25A4solute carrier family 25 member 4 | Vaak (30–79%) | In 1 aandoening |
| SLC34A1solute carrier family 34 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Vaak (30–79%) | In 2 aandoeningen |
| SLC52A3solute carrier family 52 member 3 | Vaak (30–79%) | In 1 aandoening |
| SLC5A7solute carrier family 5 member 7 | Vaak (30–79%) | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Vaak (30–79%) | In 2 aandoeningen |
| SPARCsecreted protein acidic and cysteine rich | Vaak (30–79%) | In 1 aandoening |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Vaak (30–79%) | In 1 aandoening |
| SPRsepiapterin reductase | Vaak (30–79%) | In 1 aandoening |
| SPTA1spectrin alpha, erythrocytic 1 | Vaak (30–79%) | In 1 aandoening |
| SPTBspectrin beta, erythrocytic | Vaak (30–79%) | In 1 aandoening |
| STAT3signal transducer and activator of transcription 3 | Vaak (30–79%) | In 1 aandoening |
| STAT5Bsignal transducer and activator of transcription 5B | Vaak (30–79%) | In 1 aandoening |
| SVILsupervillin | Vaak (30–79%) | In 1 aandoening |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Vaak (30–79%) | In 1 aandoening |
| TBL1XR1TBL1X/Y related 1 | Vaak (30–79%) | In 1 aandoening |
| TEFMtranscription elongation factor, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| TERTtelomerase reverse transcriptase | Vaak (30–79%) | In 1 aandoening |
| TGFB1transforming growth factor beta 1 | Vaak (30–79%) | In 2 aandoeningen |
| TNXBtenascin XB | Vaak (30–79%) | In 1 aandoening |
| TP53tumor protein p53 | Vaak (30–79%) | In 2 aandoeningen |
| USP48ubiquitin specific peptidase 48 | Vaak (30–79%) | In 1 aandoening |
| USP8ubiquitin specific peptidase 8 | Vaak (30–79%) | In 1 aandoening |
| WDR83OSWD repeat domain 83 opposite strand | Vaak (30–79%) | In 1 aandoening |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Vaak (30–79%) | In 1 aandoening |
| XYLT2xylosyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| YARS2tyrosyl-tRNA synthetase 2 | Vaak (30–79%) | In 1 aandoening |
| ZBTB16zinc finger and BTB domain containing 16 | Vaak (30–79%) | In 1 aandoening |
| ZFYVE26zinc finger FYVE-type containing 26 | Vaak (30–79%) | In 1 aandoening |
| ZNRF3zinc and ring finger 3 | Vaak (30–79%) | In 1 aandoening |
| AHCYadenosylhomocysteinase | Soms (5–29%) | In 1 aandoening |
| ANOS1anosmin 1 | Soms (5–29%) | In 1 aandoening |
| AP2S1adaptor related protein complex 2 subunit sigma 1 | Soms (5–29%) | In 1 aandoening |
| ASLargininosuccinate lyase | Soms (5–29%) | In 1 aandoening |
| ATXN1ataxin 1 | Soms (5–29%) | In 1 aandoening |
| BMP6bone morphogenetic protein 6 | Soms (5–29%) | In 1 aandoening |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| CASQ1calsequestrin 1 | Soms (5–29%) | In 1 aandoening |
| CCDC141coiled-coil domain containing 141 | Soms (5–29%) | In 1 aandoening |
| CD4CD4 molecule | Soms (5–29%) | In 1 aandoening |
| CDC73cell division cycle 73 | Soms (5–29%) | In 2 aandoeningen |
| CHD7chromodomain helicase DNA binding protein 7 | Soms (5–29%) | In 1 aandoening |
| CLCN2chloride voltage-gated channel 2 | Soms (5–29%) | In 1 aandoening |
| CNNM2cyclin and CBS domain divalent metal cation transport mediator 2 | Soms (5–29%) | In 1 aandoening |
| COL13A1collagen type XIII alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Soms (5–29%) | In 1 aandoening |
| COQ6coenzyme Q6, monooxygenase | Soms (5–29%) | In 1 aandoening |
| CYP11B1cytochrome P450 family 11 subfamily B member 1 | Soms (5–29%) | In 1 aandoening |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Soms (5–29%) | In 1 aandoening |
| DCCDCC netrin 1 receptor | Soms (5–29%) | In 1 aandoening |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Soms (5–29%) | In 1 aandoening |
| DNA2DNA replication helicase/nuclease 2 | Soms (5–29%) | In 1 aandoening |
| DTNAdystrobrevin alpha | Soms (5–29%) | In 1 aandoening |
| DUSP6dual specificity phosphatase 6 | Soms (5–29%) | In 1 aandoening |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Soms (5–29%) | In 1 aandoening |
| EMX2empty spiracles homeobox 2 | Soms (5–29%) | In 1 aandoening |
| FBN1fibrillin 1 | Soms (5–29%) | In 2 aandoeningen |
| FEZF1FEZ family zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| FGF17fibroblast growth factor 17 | Soms (5–29%) | In 1 aandoening |
| FGF8fibroblast growth factor 8 | Soms (5–29%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Soms (5–29%) | In 1 aandoening |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Soms (5–29%) | In 1 aandoening |
| GALCgalactosylceramidase | Soms (5–29%) | In 1 aandoening |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Soms (5–29%) | In 1 aandoening |
| HESX1HESX homeobox 1 | Soms (5–29%) | In 1 aandoening |
| HFEhomeostatic iron regulator | Soms (5–29%) | In 1 aandoening |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Soms (5–29%) | In 2 aandoeningen |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Soms (5–29%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Soms (5–29%) | In 2 aandoeningen |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| IL17RDinterleukin 17 receptor D | Soms (5–29%) | In 1 aandoening |
| IRAK1interleukin 1 receptor associated kinase 1 | Soms (5–29%) | In 1 aandoening |
| IRF4interferon regulatory factor 4 | Soms (5–29%) | In 1 aandoening |
| LAMB2laminin subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| LYSTlysosomal trafficking regulator | Soms (5–29%) | In 2 aandoeningen |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Soms (5–29%) | In 1 aandoening |
| MMUTmethylmalonyl-CoA mutase | Soms (5–29%) | In 1 aandoening |
| NBNnibrin | Soms (5–29%) | In 1 aandoening |
| NDNFneuron derived neurotrophic factor | Soms (5–29%) | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Soms (5–29%) | In 1 aandoening |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Soms (5–29%) | In 1 aandoening |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| PDE11Aphosphodiesterase 11A | Soms (5–29%) | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Soms (5–29%) | In 1 aandoening |
| PGAM2phosphoglycerate mutase 2 | Soms (5–29%) | In 1 aandoening |
| PGM1phosphoglucomutase 1 | Soms (5–29%) | In 1 aandoening |
| PHEXphosphate regulating endopeptidase X-linked | Soms (5–29%) | In 1 aandoening |
| PHKBphosphorylase kinase regulatory subunit beta | Soms (5–29%) | In 1 aandoening |
| POLRMTRNA polymerase mitochondrial | Soms (5–29%) | In 1 aandoening |
| PROK2prokineticin 2 | Soms (5–29%) | In 1 aandoening |
| PROKR2prokineticin receptor 2 | Soms (5–29%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Soms (5–29%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Soms (5–29%) | In 1 aandoening |
| PYGMglycogen phosphorylase, muscle associated | Soms (5–29%) | In 2 aandoeningen |
| RPS6KA3ribosomal protein S6 kinase A3 | Soms (5–29%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Soms (5–29%) | In 1 aandoening |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| SEMA3Asemaphorin 3A | Soms (5–29%) | In 1 aandoening |
| SFRP4secreted frizzled related protein 4 | Soms (5–29%) | In 2 aandoeningen |
| SLC9A7solute carrier family 9 member A7 | Soms (5–29%) | In 1 aandoening |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Soms (5–29%) | In 1 aandoening |
| SOX10SRY-box transcription factor 10 | Soms (5–29%) | In 1 aandoening |
| SPP1secreted phosphoprotein 1 | Soms (5–29%) | In 1 aandoening |
| SPRY4sprouty RTK signaling antagonist 4 | Soms (5–29%) | In 1 aandoening |
| STAT1signal transducer and activator of transcription 1 | Soms (5–29%) | In 1 aandoening |
| STAT4signal transducer and activator of transcription 4 | Soms (5–29%) | In 1 aandoening |
| TACR3tachykinin receptor 3 | Soms (5–29%) | In 1 aandoening |
| TRMT1tRNA methyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| WDR11WD repeat domain 11 | 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 |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Zelden (1–4%) | In 2 aandoeningen |
| AAASaladin WD repeat nucleoporin | Niet vastgelegd | In 1 aandoening |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Niet vastgelegd | In 1 aandoening |
| ACAD9acyl-CoA dehydrogenase family member 9 | Niet vastgelegd | In 1 aandoening |
| ACADVLacyl-CoA dehydrogenase very long chain | Niet vastgelegd | In 1 aandoening |
| ACTN2actinin alpha 2 | Niet vastgelegd | In 1 aandoening |
| ACY1aminoacylase 1 | Niet vastgelegd | In 1 aandoening |
| ADPRSADP-ribosylserine hydrolase | Niet vastgelegd | In 1 aandoening |
| AGKacylglycerol kinase | Niet vastgelegd | In 1 aandoening |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Niet vastgelegd | In 1 aandoening |
| APTXaprataxin | Niet vastgelegd | In 1 aandoening |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Niet vastgelegd | In 1 aandoening |
| BET1Bet1 golgi vesicular membrane trafficking protein | Niet vastgelegd | In 1 aandoening |
| BOLA3bolA family member 3 | Niet vastgelegd | In 1 aandoening |
| C9orf72C9orf72-SMCR8 complex subunit | Niet vastgelegd | In 1 aandoening |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Niet vastgelegd | In 2 aandoeningen |
| CASKcalcium/calmodulin dependent serine protein kinase | Niet vastgelegd | In 1 aandoening |
| CCNFcyclin F | Niet vastgelegd | In 1 aandoening |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Niet vastgelegd | In 1 aandoening |
| CHRNDcholinergic receptor nicotinic delta subunit | Niet vastgelegd | In 1 aandoening |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Niet vastgelegd | In 1 aandoening |
| COQ7coenzyme Q7, hydroxylase | Niet vastgelegd | In 1 aandoening |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Niet vastgelegd | In 1 aandoening |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| DCTN1dynactin subunit 1 | Niet vastgelegd | In 1 aandoening |
| DMP1dentin matrix acidic phosphoprotein 1 | Niet vastgelegd | In 1 aandoening |
| DMPKDM1 protein kinase | Niet vastgelegd | In 1 aandoening |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Niet vastgelegd | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Niet vastgelegd | In 1 aandoening |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Niet vastgelegd | In 1 aandoening |
| ETFAelectron transfer flavoprotein subunit alpha | Niet vastgelegd | In 1 aandoening |
| ETFBelectron transfer flavoprotein subunit beta | Niet vastgelegd | In 1 aandoening |
| ETFDHelectron transfer flavoprotein dehydrogenase | Niet vastgelegd | In 1 aandoening |
| FDX2ferredoxin 2 | Niet vastgelegd | In 1 aandoening |
| FLNCfilamin C | Niet vastgelegd | In 1 aandoening |
| GFERgrowth factor, augmenter of liver regeneration | Niet vastgelegd | In 1 aandoening |
| GPIglucose-6-phosphate isomerase | Niet vastgelegd | In 1 aandoening |
| HEXBhexosaminidase subunit beta | Niet vastgelegd | In 1 aandoening |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Niet vastgelegd | In 1 aandoening |
| HMBShydroxymethylbilane synthase | Niet vastgelegd | In 1 aandoening |
| IFIH1interferon induced with helicase C domain 1 | Niet vastgelegd | In 1 aandoening |
| ISCUiron-sulfur cluster assembly enzyme | Niet vastgelegd | In 1 aandoening |
| KLHL41kelch like family member 41 | Niet vastgelegd | In 1 aandoening |
| LIMS2LIM zinc finger domain containing 2 | Niet vastgelegd | In 1 aandoening |
| LMNAlamin A/C | Niet vastgelegd | In 1 aandoening |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Niet vastgelegd | In 1 aandoening |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Niet vastgelegd | In 1 aandoening |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Niet vastgelegd | In 1 aandoening |
| MTHFRmethylenetetrahydrofolate reductase | Niet vastgelegd | In 1 aandoening |
| MTRFRmitochondrial translation release factor in rescue | Niet vastgelegd | In 1 aandoening |
| MYH3myosin heavy chain 3 | Niet vastgelegd | In 1 aandoening |
| MYO9Amyosin IXA | Niet vastgelegd | In 1 aandoening |
| NEFHneurofilament heavy chain | Niet vastgelegd | In 1 aandoening |
| NF1neurofibromin 1 | Niet vastgelegd | In 1 aandoening |
| PAX7paired box 7 | Niet vastgelegd | In 1 aandoening |
| PCNAproliferating cell nuclear antigen | Niet vastgelegd | In 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | Niet vastgelegd | In 1 aandoening |
| PEX7peroxisomal biogenesis factor 7 | Niet vastgelegd | In 1 aandoening |
| PFN1profilin 1 | Niet vastgelegd | In 1 aandoening |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Niet vastgelegd | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Niet vastgelegd | In 1 aandoening |
| PREPLprolyl endopeptidase like | Niet vastgelegd | In 1 aandoening |
| PRPHperipherin | Niet vastgelegd | In 1 aandoening |
| PSMB8proteasome 20S subunit beta 8 | Niet vastgelegd | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Niet vastgelegd | In 1 aandoening |
| SEPTIN9septin 9 | Niet vastgelegd | In 1 aandoening |
| SLC25A1solute carrier family 25 member 1 | Niet vastgelegd | In 1 aandoening |
| SLC25A19solute carrier family 25 member 19 | Niet vastgelegd | In 1 aandoening |
| SLC25A24solute carrier family 25 member 24 | Niet vastgelegd | In 1 aandoening |
| SLC25A26solute carrier family 25 member 26 | Niet vastgelegd | In 1 aandoening |
| SLC33A1solute carrier family 33 member 1 | Niet vastgelegd | In 1 aandoening |
| SLC34A3solute carrier family 34 member 3 | Niet vastgelegd | In 1 aandoening |
| SLC7A7solute carrier family 7 member 7 | Niet vastgelegd | In 1 aandoening |
| SMN1survival of motor neuron 1, telomeric | Niet vastgelegd | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Niet vastgelegd | In 1 aandoening |
| SOD1superoxide dismutase 1 | Niet vastgelegd | In 1 aandoening |
| SQSTM1sequestosome 1 | Niet vastgelegd | In 1 aandoening |
| TANGO2transport and golgi organization 2 homolog | Niet vastgelegd | In 1 aandoening |
| TBK1TANK binding kinase 1 | Niet vastgelegd | In 1 aandoening |
| TCN2transcobalamin 2 | Niet vastgelegd | In 1 aandoening |
| TGFB2transforming growth factor beta 2 | Niet vastgelegd | In 1 aandoening |
| TMEM165transmembrane protein 165 | Niet vastgelegd | In 1 aandoening |
| TNFRSF11BTNF receptor superfamily member 11b | Niet vastgelegd | In 1 aandoening |
| TPI1triosephosphate isomerase 1 | Niet vastgelegd | In 1 aandoening |
| TRPM7transient receptor potential cation channel subfamily M member 7 | Niet vastgelegd | In 1 aandoening |
| TSFMTs translation elongation factor, mitochondrial | Niet vastgelegd | In 1 aandoening |
| TTC19tetratricopeptide repeat domain 19 | Niet vastgelegd | In 1 aandoening |
| TTRtransthyretin | Niet vastgelegd | In 1 aandoening |
| ZC4H2zinc finger C4H2-type containing | 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
- Poor head control251 genen
- Proximal neurogenic muscle weakness192 genen
- Weakness of outermost muscles176 genen
- Bell's palsy157 genen
- Generalized muscle weakness122 genen
- Limb muscle weakness66 genen
- Progressive muscle weakness64 genen
- Neck muscle weakness63 genen
- Axial muscle weakness54 genen
- Limb-girdle muscle weakness47 genen
- Bulbar palsy36 genen
- Fatigable weakness27 genen
- Abdominal wall muscle weakness17 genen
- Weak diaphragm13 genen
- Weakness of muscles of respiration12 genen
- Muscle weakness between ribs11 genen
- Muscle flaccidity7 genen
- Ankle weakness6 genen
- Scapuloperoneal weakness4 genen
- Weakness of orbicularis oculi muscle2 genen
- Cold paresis1 gen
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.
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