Egenskap
Muscle weakness
Reduced strength of muscles.
Sammendrag
- Også kalt
- Muscular weakness
- Kroppssystem
- Abnormality of the musculoskeletal system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Muscle weakness 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 |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Alltid | I 2 tilstander |
| ADKadenosine kinase | Alltid | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Alltid | I 2 tilstander |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Alltid | I 2 tilstander |
| ALDOAaldolase, fructose-bisphosphate A | Alltid | I 2 tilstander |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Alltid | I 4 tilstander |
| AMPD1adenosine monophosphate deaminase 1 | Alltid | I 1 tilstand |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Alltid | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Alltid | I 2 tilstander |
| ATP6V1B1ATPase H+ transporting V1 subunit B1 | Alltid | I 1 tilstand |
| ATP9AATPase phospholipid transporting 9A | Alltid | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Alltid | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Alltid | I 1 tilstand |
| CCDC78coiled-coil domain containing 78 | Alltid | I 1 tilstand |
| CFL2cofilin 2 | Alltid | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Alltid | I 1 tilstand |
| CHKBcholine kinase beta | Alltid | I 1 tilstand |
| CLCN1chloride voltage-gated channel 1 | Alltid | I 1 tilstand |
| CLDN16claudin 16 | Alltid | I 1 tilstand |
| CNTN1contactin 1 | Alltid | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Alltid | I 3 tilstander |
| COL6A2collagen type VI alpha 2 chain | Alltid | I 3 tilstander |
| COL6A3collagen type VI alpha 3 chain | Alltid | I 3 tilstander |
| COQ4coenzyme Q4 | Alltid | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Alltid | I 1 tilstand |
| COX6A2cytochrome c oxidase subunit 6A2 | Alltid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Alltid | I 1 tilstand |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Alltid | I 2 tilstander |
| DMDdystrophin | Alltid | I 3 tilstander |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Alltid | I 2 tilstander |
| DSTdystonin | Alltid | I 1 tilstand |
| EXOSC5exosome component 5 | Alltid | I 1 tilstand |
| FAM111BFAM111 trypsin like peptidase B | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| FKBP14FKBP prolyl isomerase 14 | Alltid | I 2 tilstander |
| FUCA1alpha-L-fucosidase 1 | Alltid | I 1 tilstand |
| GAAalpha glucosidase | Alltid | I 2 tilstander |
| GARS1glycyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Alltid | I 3 tilstander |
| GYG1glycogenin 1 | Alltid | I 1 tilstand |
Vis 500 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Alltid | I 2 tilstander |
| ITGA7integrin subunit alpha 7 | Alltid | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Alltid | I 1 tilstand |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Alltid | I 2 tilstander |
| KLHL40kelch like family member 40 | Alltid | I 1 tilstand |
| KYkyphoscoliosis peptidase | Alltid | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Alltid | I 2 tilstander |
| LAMP2lysosome associated membrane protein 2 | Alltid | I 2 tilstander |
| LMOD3leiomodin 3 | Alltid | I 1 tilstand |
| LPIN1lipin 1 | Alltid | I 2 tilstander |
| LRP12LDL receptor related protein 12 | Alltid | I 2 tilstander |
| LRP4LDL receptor related protein 4 | Alltid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alltid | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Alltid | I 1 tilstand |
| MFFmitochondrial fission factor | Alltid | I 2 tilstander |
| MPZmyelin protein zero | Alltid | I 2 tilstander |
| MRPL12mitochondrial ribosomal protein L12 | Alltid | I 1 tilstand |
| MYMXmyomixer, myoblast fusion factor | Alltid | I 1 tilstand |
| MYPNmyopalladin | Alltid | I 1 tilstand |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Alltid | I 2 tilstander |
| NSUN3NOP2/Sun RNA methyltransferase 3 | Alltid | I 1 tilstand |
| OPTNoptineurin | Alltid | I 1 tilstand |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Alltid | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Alltid | I 1 tilstand |
| PGK1phosphoglycerate kinase 1 | Alltid | I 2 tilstander |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Alltid | I 2 tilstander |
| PMM2phosphomannomutase 2 | Alltid | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Alltid | I 2 tilstander |
| PSAPprosaposin | Alltid | I 5 tilstander |
| PTCRApre T cell antigen receptor alpha | Alltid | I 1 tilstand |
| PUS1pseudouridine synthase 1 | Alltid | I 1 tilstand |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Alltid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Alltid | I 2 tilstander |
| RCC1regulator of chromosome condensation 1 | Alltid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| RNASEH1ribonuclease H1 | Alltid | I 1 tilstand |
| RYR1ryanodine receptor 1 | Alltid | I 3 tilstander |
| SARS1seryl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Alltid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 1 tilstand |
| SERPING1serpin family G member 1 | Alltid | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Alltid | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Alltid | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Alltid | I 2 tilstander |
| TBCDtubulin folding cofactor D | Alltid | I 2 tilstander |
| TFGtrafficking from ER to golgi regulator | Alltid | I 1 tilstand |
| TNNC2troponin C2, fast skeletal type | Alltid | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Alltid | I 1 tilstand |
| TOR1AIP1torsin 1A interacting protein 1 | Alltid | I 1 tilstand |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Alltid | I 1 tilstand |
| TRIM2tripartite motif containing 2 | Alltid | I 1 tilstand |
| TRIP4thyroid hormone receptor interactor 4 | Alltid | I 1 tilstand |
| TRMT5tRNA methyltransferase 5 | Alltid | I 1 tilstand |
| TRU-TCA1-1tRNA-SeC (anticodon TCA) 1-1 | Alltid | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Alltid | I 2 tilstander |
| UQCC3ubiquinol-cytochrome c reductase complex assembly factor 3 | Alltid | I 1 tilstand |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Alltid | I 1 tilstand |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| VCPvalosin containing protein | Alltid | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alltid | I 2 tilstander |
| ALAS25'-aminolevulinate synthase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ATL1atlastin GTPase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ATL3atlastin GTPase 3 | Svært ofte (80–99 %) | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Svært ofte (80–99 %) | I 2 tilstander |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Svært ofte (80–99 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Svært ofte (80–99 %) | I 2 tilstander |
| CBLCbl proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| CEP126centrosomal protein 126 | Svært ofte (80–99 %) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Svært ofte (80–99 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Svært ofte (80–99 %) | I 1 tilstand |
| COL6A1collagen type VI alpha 1 chain | Svært ofte (80–99 %) | I 2 tilstander |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Svært ofte (80–99 %) | I 2 tilstander |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| DAG1dystroglycan 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Svært ofte (80–99 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ERLIN2ER lipid raft associated 2 | Svært ofte (80–99 %) | I 1 tilstand |
| EXOSC3exosome component 3 | Svært ofte (80–99 %) | I 2 tilstander |
| EXOSC8exosome component 8 | Svært ofte (80–99 %) | I 2 tilstander |
| EXOSC9exosome component 9 | Svært ofte (80–99 %) | I 2 tilstander |
| FKRPfukutin related protein | Svært ofte (80–99 %) | I 2 tilstander |
| FKTNfukutin | Svært ofte (80–99 %) | I 2 tilstander |
| FOXE1forkhead box E1 | Svært ofte (80–99 %) | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| GBE11,4-alpha-glucan branching enzyme 1 | Svært ofte (80–99 %) | I 2 tilstander |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| IFRD1interferon related developmental regulator 1 | Svært ofte (80–99 %) | I 1 tilstand |
| KIF1Akinesin family member 1A | Svært ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Svært ofte (80–99 %) | I 2 tilstander |
| MRASmuscle RAS oncogene homolog | Svært ofte (80–99 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Svært ofte (80–99 %) | I 2 tilstander |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Svært ofte (80–99 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Svært ofte (80–99 %) | I 2 tilstander |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Svært ofte (80–99 %) | I 3 tilstander |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Svært ofte (80–99 %) | I 2 tilstander |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Svært ofte (80–99 %) | I 2 tilstander |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Svært ofte (80–99 %) | I 2 tilstander |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Svært ofte (80–99 %) | I 2 tilstander |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Svært ofte (80–99 %) | I 2 tilstander |
| 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 2 tilstander |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Svært ofte (80–99 %) | I 2 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-TQmitochondrially encoded tRNA-Gln (CAA/G) | Svært ofte (80–99 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Svært ofte (80–99 %) | I 2 tilstander |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Svært ofte (80–99 %) | I 2 tilstander |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Svært ofte (80–99 %) | I 2 tilstander |
| NAGAalpha-N-acetylgalactosaminidase | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Svært ofte (80–99 %) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Svært ofte (80–99 %) | I 2 tilstander |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Svært ofte (80–99 %) | I 1 tilstand |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Svært ofte (80–99 %) | I 1 tilstand |
| PAX8paired box 8 | Svært ofte (80–99 %) | I 2 tilstander |
| PLP1proteolipid protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Svært ofte (80–99 %) | I 2 tilstander |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Svært ofte (80–99 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Svært ofte (80–99 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PRRT2proline rich transmembrane protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Svært ofte (80–99 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RRASRAS related | Svært ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SEPHS1selenophosphate synthetase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC22A5solute carrier family 22 member 5 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC25A20solute carrier family 25 member 20 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC25A46solute carrier family 25 member 46 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC26A4solute carrier family 26 member 4 | Svært ofte (80–99 %) | I 1 tilstand |
| SORDsorbitol dehydrogenase | Svært ofte (80–99 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Svært ofte (80–99 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Svært ofte (80–99 %) | I 2 tilstander |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Svært ofte (80–99 %) | I 2 tilstander |
| TIMM50translocase of inner mitochondrial membrane 50 | Svært ofte (80–99 %) | I 2 tilstander |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Svært ofte (80–99 %) | I 2 tilstander |
| TRMT2BtRNA methyltransferase 2B | Svært ofte (80–99 %) | I 1 tilstand |
| TRMUtRNA mitochondrial 2-thiouridylase | Svært ofte (80–99 %) | I 1 tilstand |
| TSHRthyroid stimulating hormone receptor | Svært ofte (80–99 %) | I 1 tilstand |
| TTPAalpha tocopherol transfer protein | Svært ofte (80–99 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Svært ofte (80–99 %) | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| ABCA2ATP binding cassette subfamily A member 2 | Ofte (30–79 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| ALADaminolevulinate dehydratase | Ofte (30–79 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 2 tilstander |
| ANK1ankyrin 1 | Ofte (30–79 %) | I 1 tilstand |
| ARSAarylsulfatase A | Ofte (30–79 %) | I 3 tilstander |
| ATG7autophagy related 7 | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Ofte (30–79 %) | I 2 tilstander |
| ATP5F1EATP synthase F1 subunit epsilon | Ofte (30–79 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Ofte (30–79 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ofte (30–79 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Ofte (30–79 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ofte (30–79 %) | I 1 tilstand |
| ATXN7ataxin 7 | Ofte (30–79 %) | I 1 tilstand |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| BCORBCL6 corepressor | Ofte (30–79 %) | I 1 tilstand |
| BSNDbarttin CLCNK type accessory subunit beta | Ofte (30–79 %) | I 1 tilstand |
| CASP2caspase 2 | Ofte (30–79 %) | I 1 tilstand |
| CAV1caveolin 1 | Ofte (30–79 %) | I 1 tilstand |
| CAVIN1caveolae associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CCM2CCM2 scaffold protein | Ofte (30–79 %) | I 1 tilstand |
| CCN2cellular communication network factor 2 | Ofte (30–79 %) | I 1 tilstand |
| CCN6cellular communication network factor 6 | Ofte (30–79 %) | I 2 tilstander |
| CCR6C-C motif chemokine receptor 6 | Ofte (30–79 %) | I 1 tilstand |
| CDH23cadherin related 23 | Ofte (30–79 %) | I 1 tilstand |
| CDKN2Acyclin dependent kinase inhibitor 2A | Ofte (30–79 %) | I 1 tilstand |
| CLCNKAchloride voltage-gated channel Ka | Ofte (30–79 %) | I 1 tilstand |
| CLCNKBchloride voltage-gated channel Kb | Ofte (30–79 %) | I 2 tilstander |
| COL1A1collagen type I alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL5A1collagen type V alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL5A2collagen type V alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Ofte (30–79 %) | I 3 tilstander |
| CTNNB1catenin beta 1 | Ofte (30–79 %) | I 1 tilstand |
| EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| EPB42erythrocyte membrane protein band 4.2 | Ofte (30–79 %) | I 1 tilstand |
| EXOC8exocyst complex component 8 | Ofte (30–79 %) | I 1 tilstand |
| FGF23fibroblast growth factor 23 | Ofte (30–79 %) | I 1 tilstand |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Ofte (30–79 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| FOXC2forkhead box C2 | Ofte (30–79 %) | I 1 tilstand |
| FXNfrataxin | Ofte (30–79 %) | I 1 tilstand |
| GATMglycine amidinotransferase | Ofte (30–79 %) | I 3 tilstander |
| GCKglucokinase | Ofte (30–79 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| GOSR2golgi SNAP receptor complex member 2 | Ofte (30–79 %) | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| GYS1glycogen synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Ofte (30–79 %) | I 1 tilstand |
| HAMPhepcidin antimicrobial peptide | Ofte (30–79 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| HJVhemojuvelin BMP co-receptor | Ofte (30–79 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Ofte (30–79 %) | I 2 tilstander |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ofte (30–79 %) | I 3 tilstander |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ofte (30–79 %) | I 1 tilstand |
| IL12Binterleukin 12B | Ofte (30–79 %) | I 1 tilstand |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Ofte (30–79 %) | I 2 tilstander |
| KRIT1KRIT1 ankyrin repeat containing | Ofte (30–79 %) | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Ofte (30–79 %) | I 1 tilstand |
| LEMD2LEM domain nuclear envelope protein 2 | Ofte (30–79 %) | I 1 tilstand |
| LIPElipase E, hormone sensitive type | Ofte (30–79 %) | I 1 tilstand |
| LMNB1lamin B1 | Ofte (30–79 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ofte (30–79 %) | I 1 tilstand |
| LYRM7LYR motif containing 7 | Ofte (30–79 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Ofte (30–79 %) | I 1 tilstand |
| MLXMAX dimerization protein MLX | Ofte (30–79 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 2 tilstander |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Ofte (30–79 %) | I 2 tilstander |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ofte (30–79 %) | I 1 tilstand |
| MYH7myosin heavy chain 7 | Ofte (30–79 %) | I 2 tilstander |
| NABP1nucleic acid binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 2 tilstander |
| NDC1NDC1 transmembrane nucleoporin | Ofte (30–79 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Ofte (30–79 %) | I 2 tilstander |
| NFE2L2NFE2 like bZIP transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Ofte (30–79 %) | I 1 tilstand |
| NOP56NOP56 ribonucleoprotein | Ofte (30–79 %) | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Ofte (30–79 %) | I 1 tilstand |
| NPM1nucleophosmin 1 | Ofte (30–79 %) | I 1 tilstand |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Ofte (30–79 %) | I 1 tilstand |
| NTNG2netrin G2 | Ofte (30–79 %) | I 1 tilstand |
| NUMA1nuclear mitotic apparatus protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PDCD10programmed cell death 10 | Ofte (30–79 %) | I 1 tilstand |
| PFKMphosphofructokinase, muscle | Ofte (30–79 %) | I 2 tilstander |
| PGAP2post-GPI attachment to proteins 2 | Ofte (30–79 %) | I 1 tilstand |
| PGM2L1phosphoglucomutase 2 like 1 | Ofte (30–79 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| PMLPML nuclear body scaffold | Ofte (30–79 %) | I 1 tilstand |
| PMP22peripheral myelin protein 22 | Ofte (30–79 %) | I 2 tilstander |
| PMPCApeptidase, mitochondrial processing subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| PPOXprotoporphyrinogen oxidase | Ofte (30–79 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ofte (30–79 %) | I 3 tilstander |
| PRNPprion protein (Kanno blood group) | Ofte (30–79 %) | I 1 tilstand |
| RARAretinoic acid receptor alpha | Ofte (30–79 %) | I 1 tilstand |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RPS6KC1ribosomal protein S6 kinase C1 | Ofte (30–79 %) | I 1 tilstand |
| SACSsacsin molecular chaperone | Ofte (30–79 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Ofte (30–79 %) | I 3 tilstander |
| SCNN1Asodium channel epithelial 1 subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| SCNN1Bsodium channel epithelial 1 subunit beta | Ofte (30–79 %) | I 1 tilstand |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Ofte (30–79 %) | I 1 tilstand |
| SLC12A3solute carrier family 12 member 3 | Ofte (30–79 %) | I 2 tilstander |
| SLC25A4solute carrier family 25 member 4 | Ofte (30–79 %) | I 1 tilstand |
| SLC34A1solute carrier family 34 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Ofte (30–79 %) | I 2 tilstander |
| SLC52A3solute carrier family 52 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Ofte (30–79 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 2 tilstander |
| SPARCsecreted protein acidic and cysteine rich | Ofte (30–79 %) | I 1 tilstand |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Ofte (30–79 %) | I 1 tilstand |
| SPRsepiapterin reductase | Ofte (30–79 %) | I 1 tilstand |
| SPTA1spectrin alpha, erythrocytic 1 | Ofte (30–79 %) | I 1 tilstand |
| SPTBspectrin beta, erythrocytic | Ofte (30–79 %) | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 1 tilstand |
| STAT5Bsignal transducer and activator of transcription 5B | Ofte (30–79 %) | I 1 tilstand |
| SVILsupervillin | Ofte (30–79 %) | I 1 tilstand |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Ofte (30–79 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Ofte (30–79 %) | I 1 tilstand |
| TEFMtranscription elongation factor, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Ofte (30–79 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Ofte (30–79 %) | I 2 tilstander |
| TNXBtenascin XB | Ofte (30–79 %) | I 1 tilstand |
| TP53tumor protein p53 | Ofte (30–79 %) | I 2 tilstander |
| USP48ubiquitin specific peptidase 48 | Ofte (30–79 %) | I 1 tilstand |
| USP8ubiquitin specific peptidase 8 | Ofte (30–79 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Ofte (30–79 %) | I 1 tilstand |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Ofte (30–79 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Ofte (30–79 %) | I 1 tilstand |
| ZBTB16zinc finger and BTB domain containing 16 | Ofte (30–79 %) | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | Ofte (30–79 %) | I 1 tilstand |
| ZNRF3zinc and ring finger 3 | Ofte (30–79 %) | I 1 tilstand |
| AHCYadenosylhomocysteinase | Noen ganger (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AP2S1adaptor related protein complex 2 subunit sigma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ASLargininosuccinate lyase | Noen ganger (5–29 %) | I 1 tilstand |
| ATXN1ataxin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BMP6bone morphogenetic protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CASQ1calsequestrin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Noen ganger (5–29 %) | I 1 tilstand |
| CD4CD4 molecule | Noen ganger (5–29 %) | I 1 tilstand |
| CDC73cell division cycle 73 | Noen ganger (5–29 %) | I 2 tilstander |
| CHD7chromodomain helicase DNA binding protein 7 | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN2chloride voltage-gated channel 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CNNM2cyclin and CBS domain divalent metal cation transport mediator 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COL13A1collagen type XIII alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Noen ganger (5–29 %) | I 1 tilstand |
| COQ6coenzyme Q6, monooxygenase | Noen ganger (5–29 %) | I 1 tilstand |
| CYP11B1cytochrome P450 family 11 subfamily B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DTNAdystrobrevin alpha | Noen ganger (5–29 %) | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FEZF1FEZ family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Noen ganger (5–29 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HFEhomeostatic iron regulator | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Noen ganger (5–29 %) | I 2 tilstander |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 2 tilstander |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Noen ganger (5–29 %) | I 1 tilstand |
| IRAK1interleukin 1 receptor associated kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IRF4interferon regulatory factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Noen ganger (5–29 %) | I 2 tilstander |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Noen ganger (5–29 %) | I 1 tilstand |
| MMUTmethylmalonyl-CoA mutase | Noen ganger (5–29 %) | I 1 tilstand |
| NBNnibrin | Noen ganger (5–29 %) | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Noen ganger (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Noen ganger (5–29 %) | I 1 tilstand |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Noen ganger (5–29 %) | I 1 tilstand |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PDE11Aphosphodiesterase 11A | Noen ganger (5–29 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAM2phosphoglycerate mutase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PGM1phosphoglucomutase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PHEXphosphate regulating endopeptidase X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| PHKBphosphorylase kinase regulatory subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| PROK2prokineticin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Noen ganger (5–29 %) | I 1 tilstand |
| PYGMglycogen phosphorylase, muscle associated | Noen ganger (5–29 %) | I 2 tilstander |
| RPS6KA3ribosomal protein S6 kinase A3 | Noen ganger (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Noen ganger (5–29 %) | I 1 tilstand |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Noen ganger (5–29 %) | I 1 tilstand |
| SFRP4secreted frizzled related protein 4 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC9A7solute carrier family 9 member A7 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SPP1secreted phosphoprotein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SPRY4sprouty RTK signaling antagonist 4 | Noen ganger (5–29 %) | I 1 tilstand |
| STAT1signal transducer and activator of transcription 1 | Noen ganger (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TRMT1tRNA methyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | 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 |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Sjelden (1–4%) | I 2 tilstander |
| AAASaladin WD repeat nucleoporin | Ikke registrert | I 1 tilstand |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Ikke registrert | I 1 tilstand |
| ACAD9acyl-CoA dehydrogenase family member 9 | Ikke registrert | I 1 tilstand |
| ACADVLacyl-CoA dehydrogenase very long chain | Ikke registrert | I 1 tilstand |
| ACTN2actinin alpha 2 | Ikke registrert | I 1 tilstand |
| ACY1aminoacylase 1 | Ikke registrert | I 1 tilstand |
| ADPRSADP-ribosylserine hydrolase | Ikke registrert | I 1 tilstand |
| AGKacylglycerol kinase | Ikke registrert | I 1 tilstand |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ikke registrert | I 1 tilstand |
| APTXaprataxin | Ikke registrert | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registrert | I 1 tilstand |
| BET1Bet1 golgi vesicular membrane trafficking protein | Ikke registrert | I 1 tilstand |
| BOLA3bolA family member 3 | Ikke registrert | I 1 tilstand |
| C9orf72C9orf72-SMCR8 complex subunit | Ikke registrert | I 1 tilstand |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Ikke registrert | I 2 tilstander |
| CASKcalcium/calmodulin dependent serine protein kinase | Ikke registrert | I 1 tilstand |
| CCNFcyclin F | Ikke registrert | I 1 tilstand |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Ikke registrert | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Ikke registrert | I 1 tilstand |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Ikke registrert | I 1 tilstand |
| COQ7coenzyme Q7, hydroxylase | Ikke registrert | I 1 tilstand |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Ikke registrert | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| DCTN1dynactin subunit 1 | Ikke registrert | I 1 tilstand |
| DMP1dentin matrix acidic phosphoprotein 1 | Ikke registrert | I 1 tilstand |
| DMPKDM1 protein kinase | Ikke registrert | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Ikke registrert | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ikke registrert | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ikke registrert | I 1 tilstand |
| ETFAelectron transfer flavoprotein subunit alpha | Ikke registrert | I 1 tilstand |
| ETFBelectron transfer flavoprotein subunit beta | Ikke registrert | I 1 tilstand |
| ETFDHelectron transfer flavoprotein dehydrogenase | Ikke registrert | I 1 tilstand |
| FDX2ferredoxin 2 | Ikke registrert | I 1 tilstand |
| FLNCfilamin C | Ikke registrert | I 1 tilstand |
| GFERgrowth factor, augmenter of liver regeneration | Ikke registrert | I 1 tilstand |
| GPIglucose-6-phosphate isomerase | Ikke registrert | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Ikke registrert | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ikke registrert | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Ikke registrert | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ikke registrert | I 1 tilstand |
| ISCUiron-sulfur cluster assembly enzyme | Ikke registrert | I 1 tilstand |
| KLHL41kelch like family member 41 | Ikke registrert | I 1 tilstand |
| LIMS2LIM zinc finger domain containing 2 | Ikke registrert | I 1 tilstand |
| LMNAlamin A/C | Ikke registrert | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ikke registrert | I 1 tilstand |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Ikke registrert | I 1 tilstand |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Ikke registrert | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Ikke registrert | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Ikke registrert | I 1 tilstand |
| MYH3myosin heavy chain 3 | Ikke registrert | I 1 tilstand |
| MYO9Amyosin IXA | Ikke registrert | I 1 tilstand |
| NEFHneurofilament heavy chain | Ikke registrert | I 1 tilstand |
| NF1neurofibromin 1 | Ikke registrert | I 1 tilstand |
| PAX7paired box 7 | Ikke registrert | I 1 tilstand |
| PCNAproliferating cell nuclear antigen | Ikke registrert | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Ikke registrert | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ikke registrert | I 1 tilstand |
| PFN1profilin 1 | Ikke registrert | I 1 tilstand |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Ikke registrert | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ikke registrert | I 1 tilstand |
| PREPLprolyl endopeptidase like | Ikke registrert | I 1 tilstand |
| PRPHperipherin | Ikke registrert | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Ikke registrert | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ikke registrert | I 1 tilstand |
| SEPTIN9septin 9 | Ikke registrert | I 1 tilstand |
| SLC25A1solute carrier family 25 member 1 | Ikke registrert | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Ikke registrert | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registrert | I 1 tilstand |
| SLC25A26solute carrier family 25 member 26 | Ikke registrert | I 1 tilstand |
| SLC33A1solute carrier family 33 member 1 | Ikke registrert | I 1 tilstand |
| SLC34A3solute carrier family 34 member 3 | Ikke registrert | I 1 tilstand |
| SLC7A7solute carrier family 7 member 7 | Ikke registrert | I 1 tilstand |
| SMN1survival of motor neuron 1, telomeric | Ikke registrert | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Ikke registrert | I 1 tilstand |
| SOD1superoxide dismutase 1 | Ikke registrert | I 1 tilstand |
| SQSTM1sequestosome 1 | Ikke registrert | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Ikke registrert | I 1 tilstand |
| TBK1TANK binding kinase 1 | Ikke registrert | I 1 tilstand |
| TCN2transcobalamin 2 | Ikke registrert | I 1 tilstand |
| TGFB2transforming growth factor beta 2 | Ikke registrert | I 1 tilstand |
| TMEM165transmembrane protein 165 | Ikke registrert | I 1 tilstand |
| TNFRSF11BTNF receptor superfamily member 11b | Ikke registrert | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ikke registrert | I 1 tilstand |
| TRPM7transient receptor potential cation channel subfamily M member 7 | Ikke registrert | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ikke registrert | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Ikke registrert | I 1 tilstand |
| TTRtransthyretin | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | 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
- Poor head control251 gener
- Proximal neurogenic muscle weakness192 gener
- Weakness of outermost muscles176 gener
- Bell's palsy157 gener
- Generalized muscle weakness122 gener
- Limb muscle weakness66 gener
- Progressive muscle weakness64 gener
- Neck muscle weakness63 gener
- Axial muscle weakness54 gener
- Limb-girdle muscle weakness47 gener
- Bulbar palsy36 gener
- Fatigable weakness27 gener
- Abdominal wall muscle weakness17 gener
- Weak diaphragm13 gener
- Weakness of muscles of respiration12 gener
- Muscle weakness between ribs11 gener
- Muscle flaccidity7 gener
- Ankle weakness6 gener
- Scapuloperoneal weakness4 gener
- Weakness of orbicularis oculi muscle2 gener
- Cold paresis1 gen
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.
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