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Tunnus
Muscle weakness
Reduced strength of muscles.
Kokkuvõte
- Teised nimetused
- Muscular weakness
- Kehasüsteem
- Abnormality of the musculoskeletal system
Muscle weaknessHP:0001324
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Read the genes linked to Muscle weakness, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test540 geeni on seotud tunnusega Muscle weakness
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Muscle weakness. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Alati | Esineb 2 haiguses |
| ADKadenosine kinase | Alati | Esineb 1 haiguses |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Alati | Esineb 2 haiguses |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Alati | Esineb 2 haiguses |
| ALDOAaldolase, fructose-bisphosphate A | Alati | Esineb 2 haiguses |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Alati | Esineb 4 haiguses |
| AMPD1adenosine monophosphate deaminase 1 | Alati | Esineb 1 haiguses |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Alati | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Alati | Esineb 2 haiguses |
| ATP6V1B1ATPase H+ transporting V1 subunit B1 | Alati | Esineb 1 haiguses |
| ATP9AATPase phospholipid transporting 9A | Alati | Esineb 1 haiguses |
| BORCS8BLOC-1 related complex subunit 8 | Alati | Esineb 1 haiguses |
| C19orf12chromosome 19 open reading frame 12 | Alati | Esineb 1 haiguses |
| CCDC78coiled-coil domain containing 78 | Alati | Esineb 1 haiguses |
| CFL2cofilin 2 | Alati | Esineb 1 haiguses |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Alati | Esineb 1 haiguses |
| CHKBcholine kinase beta | Alati | Esineb 1 haiguses |
| CLCN1chloride voltage-gated channel 1 | Alati | Esineb 1 haiguses |
| CLDN16claudin 16 | Alati | Esineb 1 haiguses |
| CNTN1contactin 1 | Alati | Esineb 1 haiguses |
| COL12A1collagen type XII alpha 1 chain | Alati | Esineb 3 haiguses |
| COL6A2collagen type VI alpha 2 chain | Alati | Esineb 3 haiguses |
| COL6A3collagen type VI alpha 3 chain | Alati | Esineb 3 haiguses |
| COQ4coenzyme Q4 | Alati | Esineb 1 haiguses |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Alati | Esineb 1 haiguses |
| COX6A2cytochrome c oxidase subunit 6A2 | Alati | Esineb 1 haiguses |
| COX6B1cytochrome c oxidase subunit 6B1 | Alati | Esineb 1 haiguses |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Alati | Esineb 2 haiguses |
| DMDdystrophin | Alati | Esineb 3 haiguses |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Alati | Esineb 2 haiguses |
| DSTdystonin | Alati | Esineb 1 haiguses |
| EXOSC5exosome component 5 | Alati | Esineb 1 haiguses |
| FAM111BFAM111 trypsin like peptidase B | Alati | Esineb 1 haiguses |
| FDXRferredoxin reductase | Alati | Esineb 1 haiguses |
| FKBP14FKBP prolyl isomerase 14 | Alati | Esineb 2 haiguses |
| FUCA1alpha-L-fucosidase 1 | Alati | Esineb 1 haiguses |
| GAAalpha glucosidase | Alati | Esineb 2 haiguses |
| GARS1glycyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Alati | Esineb 3 haiguses |
| GYG1glycogenin 1 | Alati | Esineb 1 haiguses |
Näita veel 500 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Alati | Esineb 2 haiguses |
| ITGA7integrin subunit alpha 7 | Alati | Esineb 1 haiguses |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Alati | Esineb 1 haiguses |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Alati | Esineb 2 haiguses |
| KLHL40kelch like family member 40 | Alati | Esineb 1 haiguses |
| KYkyphoscoliosis peptidase | Alati | Esineb 1 haiguses |
| LAMA2laminin subunit alpha 2 | Alati | Esineb 2 haiguses |
| LAMP2lysosome associated membrane protein 2 | Alati | Esineb 2 haiguses |
| LMOD3leiomodin 3 | Alati | Esineb 1 haiguses |
| LPIN1lipin 1 | Alati | Esineb 2 haiguses |
| LRP12LDL receptor related protein 12 | Alati | Esineb 2 haiguses |
| LRP4LDL receptor related protein 4 | Alati | Esineb 1 haiguses |
| LRRC7leucine rich repeat containing 7 | Alati | Esineb 1 haiguses |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alati | Esineb 1 haiguses |
| MDH2malate dehydrogenase 2 | Alati | Esineb 1 haiguses |
| MFFmitochondrial fission factor | Alati | Esineb 2 haiguses |
| MPZmyelin protein zero | Alati | Esineb 2 haiguses |
| MRPL12mitochondrial ribosomal protein L12 | Alati | Esineb 1 haiguses |
| MYMXmyomixer, myoblast fusion factor | Alati | Esineb 1 haiguses |
| MYPNmyopalladin | Alati | Esineb 1 haiguses |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Alati | Esineb 2 haiguses |
| NSUN3NOP2/Sun RNA methyltransferase 3 | Alati | Esineb 1 haiguses |
| OPTNoptineurin | Alati | Esineb 1 haiguses |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Alati | Esineb 1 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Alati | Esineb 1 haiguses |
| PGK1phosphoglycerate kinase 1 | Alati | Esineb 2 haiguses |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Alati | Esineb 2 haiguses |
| PMM2phosphomannomutase 2 | Alati | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Alati | Esineb 2 haiguses |
| PSAPprosaposin | Alati | Esineb 5 haiguses |
| PTCRApre T cell antigen receptor alpha | Alati | Esineb 1 haiguses |
| PUS1pseudouridine synthase 1 | Alati | Esineb 1 haiguses |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Alati | Esineb 1 haiguses |
| RBSNrabenosyn, RAB effector | Alati | Esineb 2 haiguses |
| RCC1regulator of chromosome condensation 1 | Alati | Esineb 1 haiguses |
| RFC4replication factor C subunit 4 | Alati | Esineb 1 haiguses |
| RNASEH1ribonuclease H1 | Alati | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Alati | Esineb 3 haiguses |
| SARS1seryl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Alati | Esineb 1 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Alati | Esineb 1 haiguses |
| SERPING1serpin family G member 1 | Alati | Esineb 1 haiguses |
| SLC12A6solute carrier family 12 member 6 | Alati | Esineb 1 haiguses |
| SPEGstriated muscle enriched protein kinase | Alati | Esineb 1 haiguses |
| STAC3SH3 and cysteine rich domain 3 | Alati | Esineb 2 haiguses |
| TBCDtubulin folding cofactor D | Alati | Esineb 2 haiguses |
| TFGtrafficking from ER to golgi regulator | Alati | Esineb 1 haiguses |
| TNNC2troponin C2, fast skeletal type | Alati | Esineb 1 haiguses |
| TOE1target of EGR1, exonuclease | Alati | Esineb 1 haiguses |
| TOR1AIP1torsin 1A interacting protein 1 | Alati | Esineb 1 haiguses |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Alati | Esineb 1 haiguses |
| TRIM2tripartite motif containing 2 | Alati | Esineb 1 haiguses |
| TRIP4thyroid hormone receptor interactor 4 | Alati | Esineb 1 haiguses |
| TRMT5tRNA methyltransferase 5 | Alati | Esineb 1 haiguses |
| TRU-TCA1-1tRNA-SeC (anticodon TCA) 1-1 | Alati | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Alati | Esineb 2 haiguses |
| UQCC3ubiquinol-cytochrome c reductase complex assembly factor 3 | Alati | Esineb 1 haiguses |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Alati | Esineb 1 haiguses |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| VCPvalosin containing protein | Alati | Esineb 1 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alati | Esineb 2 haiguses |
| ALAS25'-aminolevulinate synthase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATL1atlastin GTPase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATL3atlastin GTPase 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATP13A2ATPase cation transporting 13A2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Väga sageli (80–99%) | Esineb 2 haiguses |
| CBLCbl proto-oncogene | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP126centrosomal protein 126 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CHST14carbohydrate sulfotransferase 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL4A1collagen type IV alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL6A1collagen type VI alpha 1 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRPPACDP-L-ribitol pyrophosphorylase A | Väga sageli (80–99%) | Esineb 2 haiguses |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| DAG1dystroglycan 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DSEdermatan sulfate epimerase | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERLIN1ER lipid raft associated 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERLIN2ER lipid raft associated 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EXOSC3exosome component 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| EXOSC8exosome component 8 | Väga sageli (80–99%) | Esineb 2 haiguses |
| EXOSC9exosome component 9 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FKRPfukutin related protein | Väga sageli (80–99%) | Esineb 2 haiguses |
| FKTNfukutin | Väga sageli (80–99%) | Esineb 2 haiguses |
| FOXE1forkhead box E1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FUSFUS RNA binding protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| GBE11,4-alpha-glucan branching enzyme 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| IFRD1interferon related developmental regulator 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIF1Akinesin family member 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LGI1leucine rich glioma inactivated 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MRASmuscle RAS oncogene homolog | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Väga sageli (80–99%) | Esineb 3 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Väga sageli (80–99%) | Esineb 2 haiguses |
| NAGAalpha-N-acetylgalactosaminidase | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NKX2-1NK2 homeobox 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NKX2-5NK2 homeobox 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NRASNRAS proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Väga sageli (80–99%) | Esineb 1 haiguses |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Väga sageli (80–99%) | Esineb 1 haiguses |
| PAX8paired box 8 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PLP1proteolipid protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Väga sageli (80–99%) | Esineb 2 haiguses |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMKprotein O-mannose kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMT2protein O-mannosyltransferase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PRRT2proline rich transmembrane protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| RASA2RAS p21 protein activator 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RIT1Ras like without CAAX 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RRASRAS related | Väga sageli (80–99%) | Esineb 1 haiguses |
| RRAS2RAS related 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RXYLT1ribitol xylosyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SEPHS1selenophosphate synthetase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SIGMAR1sigma receptor chaperone 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC22A5solute carrier family 22 member 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC25A20solute carrier family 25 member 20 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC25A46solute carrier family 25 member 46 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC26A4solute carrier family 26 member 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SORDsorbitol dehydrogenase | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPRED2sprouty related EVH1 domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TARDBPTAR DNA binding protein | Väga sageli (80–99%) | Esineb 2 haiguses |
| TIMM50translocase of inner mitochondrial membrane 50 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM126Btransmembrane protein 126B | Väga sageli (80–99%) | Esineb 2 haiguses |
| TRMT2BtRNA methyltransferase 2B | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRMUtRNA mitochondrial 2-thiouridylase | Väga sageli (80–99%) | Esineb 1 haiguses |
| TSHRthyroid stimulating hormone receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| TTPAalpha tocopherol transfer protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| UBQLN2ubiquilin 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| VRK1VRK serine/threonine kinase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| ABCA2ATP binding cassette subfamily A member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ADA2adenosine deaminase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ALADaminolevulinate dehydratase | Sageli (30–79%) | Esineb 1 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Sageli (30–79%) | Esineb 2 haiguses |
| ANK1ankyrin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ARSAarylsulfatase A | Sageli (30–79%) | Esineb 3 haiguses |
| ATG7autophagy related 7 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP5F1AATP synthase F1 subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| ATP5F1DATP synthase F1 subunit delta | Sageli (30–79%) | Esineb 2 haiguses |
| ATP5F1EATP synthase F1 subunit epsilon | Sageli (30–79%) | Esineb 1 haiguses |
| ATP5MKATP synthase membrane subunit k | Sageli (30–79%) | Esineb 1 haiguses |
| ATP5POATP synthase peripheral stalk subunit OSCP | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP7AATPase copper transporting alpha | Sageli (30–79%) | Esineb 1 haiguses |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Sageli (30–79%) | Esineb 1 haiguses |
| ATXN7ataxin 7 | Sageli (30–79%) | Esineb 1 haiguses |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BCORBCL6 corepressor | Sageli (30–79%) | Esineb 1 haiguses |
| BSNDbarttin CLCNK type accessory subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| CASP2caspase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CAV1caveolin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CAVIN1caveolae associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CCM2CCM2 scaffold protein | Sageli (30–79%) | Esineb 1 haiguses |
| CCN2cellular communication network factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CCN6cellular communication network factor 6 | Sageli (30–79%) | Esineb 2 haiguses |
| CCR6C-C motif chemokine receptor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| CDH23cadherin related 23 | Sageli (30–79%) | Esineb 1 haiguses |
| CDKN2Acyclin dependent kinase inhibitor 2A | Sageli (30–79%) | Esineb 1 haiguses |
| CLCNKAchloride voltage-gated channel Ka | Sageli (30–79%) | Esineb 1 haiguses |
| CLCNKBchloride voltage-gated channel Kb | Sageli (30–79%) | Esineb 2 haiguses |
| COL1A1collagen type I alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COL5A1collagen type V alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COL5A2collagen type V alpha 2 chain | Sageli (30–79%) | Esineb 1 haiguses |
| CPT2carnitine palmitoyltransferase 2 | Sageli (30–79%) | Esineb 3 haiguses |
| CTNNB1catenin beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EPB42erythrocyte membrane protein band 4.2 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOC8exocyst complex component 8 | Sageli (30–79%) | Esineb 1 haiguses |
| FGF23fibroblast growth factor 23 | Sageli (30–79%) | Esineb 1 haiguses |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Sageli (30–79%) | Esineb 1 haiguses |
| FMR1fragile X messenger ribonucleoprotein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FOXC2forkhead box C2 | Sageli (30–79%) | Esineb 1 haiguses |
| FXNfrataxin | Sageli (30–79%) | Esineb 1 haiguses |
| GATMglycine amidinotransferase | Sageli (30–79%) | Esineb 3 haiguses |
| GCKglucokinase | Sageli (30–79%) | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GOSR2golgi SNAP receptor complex member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GYS1glycogen synthase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| HAMPhepcidin antimicrobial peptide | Sageli (30–79%) | Esineb 1 haiguses |
| HIVEP2HIVEP zinc finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HJVhemojuvelin BMP co-receptor | Sageli (30–79%) | Esineb 1 haiguses |
| HLA-Bmajor histocompatibility complex, class I, B | Sageli (30–79%) | Esineb 2 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sageli (30–79%) | Esineb 3 haiguses |
| IBA57iron-sulfur cluster assembly factor IBA57 | Sageli (30–79%) | Esineb 1 haiguses |
| IL12Binterleukin 12B | Sageli (30–79%) | Esineb 1 haiguses |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| IRF5interferon regulatory factor 5 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Sageli (30–79%) | Esineb 2 haiguses |
| KRIT1KRIT1 ankyrin repeat containing | Sageli (30–79%) | Esineb 1 haiguses |
| L1CAML1 cell adhesion molecule | Sageli (30–79%) | Esineb 1 haiguses |
| LEMD2LEM domain nuclear envelope protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LIPElipase E, hormone sensitive type | Sageli (30–79%) | Esineb 1 haiguses |
| LMNB1lamin B1 | Sageli (30–79%) | Esineb 1 haiguses |
| LRPPRCleucine rich pentatricopeptide repeat containing | Sageli (30–79%) | Esineb 1 haiguses |
| LYRM7LYR motif containing 7 | Sageli (30–79%) | Esineb 1 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MLXMAX dimerization protein MLX | Sageli (30–79%) | Esineb 1 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sageli (30–79%) | Esineb 2 haiguses |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Sageli (30–79%) | Esineb 2 haiguses |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Sageli (30–79%) | Esineb 1 haiguses |
| MYH7myosin heavy chain 7 | Sageli (30–79%) | Esineb 2 haiguses |
| NABP1nucleic acid binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 2 haiguses |
| NDC1NDC1 transmembrane nucleoporin | Sageli (30–79%) | Esineb 1 haiguses |
| NEU1neuraminidase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NFE2L2NFE2 like bZIP transcription factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NFU1NFU1 iron-sulfur cluster scaffold | Sageli (30–79%) | Esineb 1 haiguses |
| NOP56NOP56 ribonucleoprotein | Sageli (30–79%) | Esineb 1 haiguses |
| NOTCH2NLCnotch 2 N-terminal like C | Sageli (30–79%) | Esineb 1 haiguses |
| NPM1nucleophosmin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NTNG2netrin G2 | Sageli (30–79%) | Esineb 1 haiguses |
| NUMA1nuclear mitotic apparatus protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PDCD10programmed cell death 10 | Sageli (30–79%) | Esineb 1 haiguses |
| PFKMphosphofructokinase, muscle | Sageli (30–79%) | Esineb 2 haiguses |
| PGAP2post-GPI attachment to proteins 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PGM2L1phosphoglucomutase 2 like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Sageli (30–79%) | Esineb 1 haiguses |
| PMLPML nuclear body scaffold | Sageli (30–79%) | Esineb 1 haiguses |
| PMP22peripheral myelin protein 22 | Sageli (30–79%) | Esineb 2 haiguses |
| PMPCApeptidase, mitochondrial processing subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PPOXprotoporphyrinogen oxidase | Sageli (30–79%) | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Sageli (30–79%) | Esineb 3 haiguses |
| PRNPprion protein (Kanno blood group) | Sageli (30–79%) | Esineb 1 haiguses |
| RARAretinoic acid receptor alpha | Sageli (30–79%) | Esineb 1 haiguses |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RPS6KC1ribosomal protein S6 kinase C1 | Sageli (30–79%) | Esineb 1 haiguses |
| SACSsacsin molecular chaperone | Sageli (30–79%) | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Sageli (30–79%) | Esineb 3 haiguses |
| SCNN1Asodium channel epithelial 1 subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| SCNN1Bsodium channel epithelial 1 subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Sageli (30–79%) | Esineb 1 haiguses |
| SLC12A3solute carrier family 12 member 3 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC25A4solute carrier family 25 member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC34A1solute carrier family 34 member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Sageli (30–79%) | Esineb 2 haiguses |
| SLC52A3solute carrier family 52 member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC5A7solute carrier family 5 member 7 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sageli (30–79%) | Esineb 2 haiguses |
| SPARCsecreted protein acidic and cysteine rich | Sageli (30–79%) | Esineb 1 haiguses |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Sageli (30–79%) | Esineb 1 haiguses |
| SPRsepiapterin reductase | Sageli (30–79%) | Esineb 1 haiguses |
| SPTA1spectrin alpha, erythrocytic 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SPTBspectrin beta, erythrocytic | Sageli (30–79%) | Esineb 1 haiguses |
| STAT3signal transducer and activator of transcription 3 | Sageli (30–79%) | Esineb 1 haiguses |
| STAT5Bsignal transducer and activator of transcription 5B | Sageli (30–79%) | Esineb 1 haiguses |
| SVILsupervillin | Sageli (30–79%) | Esineb 1 haiguses |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Sageli (30–79%) | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TEFMtranscription elongation factor, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| TERTtelomerase reverse transcriptase | Sageli (30–79%) | Esineb 1 haiguses |
| TGFB1transforming growth factor beta 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TNXBtenascin XB | Sageli (30–79%) | Esineb 1 haiguses |
| TP53tumor protein p53 | Sageli (30–79%) | Esineb 2 haiguses |
| USP48ubiquitin specific peptidase 48 | Sageli (30–79%) | Esineb 1 haiguses |
| USP8ubiquitin specific peptidase 8 | Sageli (30–79%) | Esineb 1 haiguses |
| WDR83OSWD repeat domain 83 opposite strand | Sageli (30–79%) | Esineb 1 haiguses |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| XYLT2xylosyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| YARS2tyrosyl-tRNA synthetase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ZBTB16zinc finger and BTB domain containing 16 | Sageli (30–79%) | Esineb 1 haiguses |
| ZFYVE26zinc finger FYVE-type containing 26 | Sageli (30–79%) | Esineb 1 haiguses |
| ZNRF3zinc and ring finger 3 | Sageli (30–79%) | Esineb 1 haiguses |
| AHCYadenosylhomocysteinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANOS1anosmin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP2S1adaptor related protein complex 2 subunit sigma 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASLargininosuccinate lyase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATXN1ataxin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BMP6bone morphogenetic protein 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CASQ1calsequestrin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCDC141coiled-coil domain containing 141 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CD4CD4 molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC73cell division cycle 73 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCN2chloride voltage-gated channel 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNNM2cyclin and CBS domain divalent metal cation transport mediator 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL13A1collagen type XIII alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Mõnikord (5–29%) | Esineb 1 haiguses |
| COQ6coenzyme Q6, monooxygenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYP11B1cytochrome P450 family 11 subfamily B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DCCDCC netrin 1 receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNA2DNA replication helicase/nuclease 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DTNAdystrobrevin alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| DUSP6dual specificity phosphatase 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EMX2empty spiracles homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FEZF1FEZ family zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF17fibroblast growth factor 17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF8fibroblast growth factor 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GALCgalactosylceramidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HESX1HESX homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HFEhomeostatic iron regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Mõnikord (5–29%) | Esineb 2 haiguses |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL17RDinterleukin 17 receptor D | Mõnikord (5–29%) | Esineb 1 haiguses |
| IRAK1interleukin 1 receptor associated kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IRF4interferon regulatory factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMB2laminin subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LYSTlysosomal trafficking regulator | Mõnikord (5–29%) | Esineb 2 haiguses |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMUTmethylmalonyl-CoA mutase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NBNnibrin | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDNFneuron derived neurotrophic factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDPnorrin cystine knot growth factor NDP | Mõnikord (5–29%) | Esineb 1 haiguses |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDE11Aphosphodiesterase 11A | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGAM2phosphoglycerate mutase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGM1phosphoglucomutase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHEXphosphate regulating endopeptidase X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHKBphosphorylase kinase regulatory subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLRMTRNA polymerase mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| PROK2prokineticin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PROKR2prokineticin receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PYGMglycogen phosphorylase, muscle associated | Mõnikord (5–29%) | Esineb 2 haiguses |
| RPS6KA3ribosomal protein S6 kinase A3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEMA3Asemaphorin 3A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SFRP4secreted frizzled related protein 4 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLC9A7solute carrier family 9 member A7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX10SRY-box transcription factor 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPP1secreted phosphoprotein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPRY4sprouty RTK signaling antagonist 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STAT1signal transducer and activator of transcription 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STAT4signal transducer and activator of transcription 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TACR3tachykinin receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRMT1tRNA methyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR11WD repeat domain 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL9A1collagen type IX alpha 1 chain | Harva (1–4%) | Esineb 1 haiguses |
| COL9A2collagen type IX alpha 2 chain | Harva (1–4%) | Esineb 1 haiguses |
| COL9A3collagen type IX alpha 3 chain | Harva (1–4%) | Esineb 1 haiguses |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Harva (1–4%) | Esineb 2 haiguses |
| AAASaladin WD repeat nucleoporin | Pole registreeritud | Esineb 1 haiguses |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Pole registreeritud | Esineb 1 haiguses |
| ACAD9acyl-CoA dehydrogenase family member 9 | Pole registreeritud | Esineb 1 haiguses |
| ACADVLacyl-CoA dehydrogenase very long chain | Pole registreeritud | Esineb 1 haiguses |
| ACTN2actinin alpha 2 | Pole registreeritud | Esineb 1 haiguses |
| ACY1aminoacylase 1 | Pole registreeritud | Esineb 1 haiguses |
| ADPRSADP-ribosylserine hydrolase | Pole registreeritud | Esineb 1 haiguses |
| AGKacylglycerol kinase | Pole registreeritud | Esineb 1 haiguses |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Pole registreeritud | Esineb 1 haiguses |
| APTXaprataxin | Pole registreeritud | Esineb 1 haiguses |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Pole registreeritud | Esineb 1 haiguses |
| BET1Bet1 golgi vesicular membrane trafficking protein | Pole registreeritud | Esineb 1 haiguses |
| BOLA3bolA family member 3 | Pole registreeritud | Esineb 1 haiguses |
| C9orf72C9orf72-SMCR8 complex subunit | Pole registreeritud | Esineb 1 haiguses |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Pole registreeritud | Esineb 2 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Pole registreeritud | Esineb 1 haiguses |
| CCNFcyclin F | Pole registreeritud | Esineb 1 haiguses |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Pole registreeritud | Esineb 1 haiguses |
| CHRNDcholinergic receptor nicotinic delta subunit | Pole registreeritud | Esineb 1 haiguses |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Pole registreeritud | Esineb 1 haiguses |
| COQ7coenzyme Q7, hydroxylase | Pole registreeritud | Esineb 1 haiguses |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| DCTN1dynactin subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| DMP1dentin matrix acidic phosphoprotein 1 | Pole registreeritud | Esineb 1 haiguses |
| DMPKDM1 protein kinase | Pole registreeritud | Esineb 1 haiguses |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Pole registreeritud | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Pole registreeritud | Esineb 1 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Pole registreeritud | Esineb 1 haiguses |
| ETFAelectron transfer flavoprotein subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| ETFBelectron transfer flavoprotein subunit beta | Pole registreeritud | Esineb 1 haiguses |
| ETFDHelectron transfer flavoprotein dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| FDX2ferredoxin 2 | Pole registreeritud | Esineb 1 haiguses |
| FLNCfilamin C | Pole registreeritud | Esineb 1 haiguses |
| GFERgrowth factor, augmenter of liver regeneration | Pole registreeritud | Esineb 1 haiguses |
| GPIglucose-6-phosphate isomerase | Pole registreeritud | Esineb 1 haiguses |
| HEXBhexosaminidase subunit beta | Pole registreeritud | Esineb 1 haiguses |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Pole registreeritud | Esineb 1 haiguses |
| HMBShydroxymethylbilane synthase | Pole registreeritud | Esineb 1 haiguses |
| IFIH1interferon induced with helicase C domain 1 | Pole registreeritud | Esineb 1 haiguses |
| ISCUiron-sulfur cluster assembly enzyme | Pole registreeritud | Esineb 1 haiguses |
| KLHL41kelch like family member 41 | Pole registreeritud | Esineb 1 haiguses |
| LIMS2LIM zinc finger domain containing 2 | Pole registreeritud | Esineb 1 haiguses |
| LMNAlamin A/C | Pole registreeritud | Esineb 1 haiguses |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Pole registreeritud | Esineb 1 haiguses |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Pole registreeritud | Esineb 1 haiguses |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Pole registreeritud | Esineb 1 haiguses |
| MTHFRmethylenetetrahydrofolate reductase | Pole registreeritud | Esineb 1 haiguses |
| MTRFRmitochondrial translation release factor in rescue | Pole registreeritud | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Pole registreeritud | Esineb 1 haiguses |
| MYO9Amyosin IXA | Pole registreeritud | Esineb 1 haiguses |
| NEFHneurofilament heavy chain | Pole registreeritud | Esineb 1 haiguses |
| NF1neurofibromin 1 | Pole registreeritud | Esineb 1 haiguses |
| PAX7paired box 7 | Pole registreeritud | Esineb 1 haiguses |
| PCNAproliferating cell nuclear antigen | Pole registreeritud | Esineb 1 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Pole registreeritud | Esineb 1 haiguses |
| PEX7peroxisomal biogenesis factor 7 | Pole registreeritud | Esineb 1 haiguses |
| PFN1profilin 1 | Pole registreeritud | Esineb 1 haiguses |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Pole registreeritud | Esineb 1 haiguses |
| PREPLprolyl endopeptidase like | Pole registreeritud | Esineb 1 haiguses |
| PRPHperipherin | Pole registreeritud | Esineb 1 haiguses |
| PSMB8proteasome 20S subunit beta 8 | Pole registreeritud | Esineb 1 haiguses |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Pole registreeritud | Esineb 1 haiguses |
| SEPTIN9septin 9 | Pole registreeritud | Esineb 1 haiguses |
| SLC25A1solute carrier family 25 member 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC25A19solute carrier family 25 member 19 | Pole registreeritud | Esineb 1 haiguses |
| SLC25A24solute carrier family 25 member 24 | Pole registreeritud | Esineb 1 haiguses |
| SLC25A26solute carrier family 25 member 26 | Pole registreeritud | Esineb 1 haiguses |
| SLC33A1solute carrier family 33 member 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC34A3solute carrier family 34 member 3 | Pole registreeritud | Esineb 1 haiguses |
| SLC7A7solute carrier family 7 member 7 | Pole registreeritud | Esineb 1 haiguses |
| SMN1survival of motor neuron 1, telomeric | Pole registreeritud | Esineb 1 haiguses |
| SMPD1sphingomyelin phosphodiesterase 1 | Pole registreeritud | Esineb 1 haiguses |
| SOD1superoxide dismutase 1 | Pole registreeritud | Esineb 1 haiguses |
| SQSTM1sequestosome 1 | Pole registreeritud | Esineb 1 haiguses |
| TANGO2transport and golgi organization 2 homolog | Pole registreeritud | Esineb 1 haiguses |
| TBK1TANK binding kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| TCN2transcobalamin 2 | Pole registreeritud | Esineb 1 haiguses |
| TGFB2transforming growth factor beta 2 | Pole registreeritud | Esineb 1 haiguses |
| TMEM165transmembrane protein 165 | Pole registreeritud | Esineb 1 haiguses |
| TNFRSF11BTNF receptor superfamily member 11b | Pole registreeritud | Esineb 1 haiguses |
| TPI1triosephosphate isomerase 1 | Pole registreeritud | Esineb 1 haiguses |
| TRPM7transient receptor potential cation channel subfamily M member 7 | Pole registreeritud | Esineb 1 haiguses |
| TSFMTs translation elongation factor, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| TTC19tetratricopeptide repeat domain 19 | Pole registreeritud | Esineb 1 haiguses |
| TTRtransthyretin | Pole registreeritud | Esineb 1 haiguses |
| ZC4H2zinc finger C4H2-type containing | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
- Poor head control251 geeni
- Proximal neurogenic muscle weakness192 geeni
- Weakness of outermost muscles176 geeni
- Bell's palsy157 geeni
- Generalized muscle weakness122 geeni
- Limb muscle weakness66 geeni
- Progressive muscle weakness64 geeni
- Neck muscle weakness63 geeni
- Axial muscle weakness54 geeni
- Limb-girdle muscle weakness47 geeni
- Bulbar palsy36 geeni
- Fatigable weakness27 geeni
- Abdominal wall muscle weakness17 geeni
- Weak diaphragm13 geeni
- Weakness of muscles of respiration12 geeni
- Muscle weakness between ribs11 geeni
- Muscle flaccidity7 geeni
- Ankle weakness6 geeni
- Scapuloperoneal weakness4 geeni
- Weakness of orbicularis oculi muscle2 geeni
- Cold paresis1 geen
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
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