Piirre
Muscle weakness
Reduced strength of muscles.
Yhteenveto
- Tunnetaan myös nimellä
- Muscular weakness
- Elimistön järjestelmä
- Abnormality of the musculoskeletal system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Muscle weakness, and the rest of your genome, with one test.
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Tilaa Genome Test540 geeniä, jotka liittyvät piirteeseen Muscle weakness
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Muscle weakness esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Aina | 2 sairaudessa |
| ADKadenosine kinase | Aina | 1 sairaudessa |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Aina | 2 sairaudessa |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Aina | 2 sairaudessa |
| ALDOAaldolase, fructose-bisphosphate A | Aina | 2 sairaudessa |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Aina | 4 sairaudessa |
| AMPD1adenosine monophosphate deaminase 1 | Aina | 1 sairaudessa |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Aina | 1 sairaudessa |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Aina | 2 sairaudessa |
| ATP6V1B1ATPase H+ transporting V1 subunit B1 | Aina | 1 sairaudessa |
| ATP9AATPase phospholipid transporting 9A | Aina | 1 sairaudessa |
| BORCS8BLOC-1 related complex subunit 8 | Aina | 1 sairaudessa |
| C19orf12chromosome 19 open reading frame 12 | Aina | 1 sairaudessa |
| CCDC78coiled-coil domain containing 78 | Aina | 1 sairaudessa |
| CFL2cofilin 2 | Aina | 1 sairaudessa |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Aina | 1 sairaudessa |
| CHKBcholine kinase beta | Aina | 1 sairaudessa |
| CLCN1chloride voltage-gated channel 1 | Aina | 1 sairaudessa |
| CLDN16claudin 16 | Aina | 1 sairaudessa |
| CNTN1contactin 1 | Aina | 1 sairaudessa |
| COL12A1collagen type XII alpha 1 chain | Aina | 3 sairaudessa |
| COL6A2collagen type VI alpha 2 chain | Aina | 3 sairaudessa |
| COL6A3collagen type VI alpha 3 chain | Aina | 3 sairaudessa |
| COQ4coenzyme Q4 | Aina | 1 sairaudessa |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Aina | 1 sairaudessa |
| COX6A2cytochrome c oxidase subunit 6A2 | Aina | 1 sairaudessa |
| COX6B1cytochrome c oxidase subunit 6B1 | Aina | 1 sairaudessa |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Aina | 2 sairaudessa |
| DMDdystrophin | Aina | 3 sairaudessa |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Aina | 2 sairaudessa |
| DSTdystonin | Aina | 1 sairaudessa |
| EXOSC5exosome component 5 | Aina | 1 sairaudessa |
| FAM111BFAM111 trypsin like peptidase B | Aina | 1 sairaudessa |
| FDXRferredoxin reductase | Aina | 1 sairaudessa |
| FKBP14FKBP prolyl isomerase 14 | Aina | 2 sairaudessa |
| FUCA1alpha-L-fucosidase 1 | Aina | 1 sairaudessa |
| GAAalpha glucosidase | Aina | 2 sairaudessa |
| GARS1glycyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| GMPPBGDP-mannose pyrophosphorylase B | Aina | 3 sairaudessa |
| GYG1glycogenin 1 | Aina | 1 sairaudessa |
Näytä 500 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Aina | 2 sairaudessa |
| ITGA7integrin subunit alpha 7 | Aina | 1 sairaudessa |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Aina | 1 sairaudessa |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Aina | 2 sairaudessa |
| KLHL40kelch like family member 40 | Aina | 1 sairaudessa |
| KYkyphoscoliosis peptidase | Aina | 1 sairaudessa |
| LAMA2laminin subunit alpha 2 | Aina | 2 sairaudessa |
| LAMP2lysosome associated membrane protein 2 | Aina | 2 sairaudessa |
| LMOD3leiomodin 3 | Aina | 1 sairaudessa |
| LPIN1lipin 1 | Aina | 2 sairaudessa |
| LRP12LDL receptor related protein 12 | Aina | 2 sairaudessa |
| LRP4LDL receptor related protein 4 | Aina | 1 sairaudessa |
| LRRC7leucine rich repeat containing 7 | Aina | 1 sairaudessa |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Aina | 1 sairaudessa |
| MDH2malate dehydrogenase 2 | Aina | 1 sairaudessa |
| MFFmitochondrial fission factor | Aina | 2 sairaudessa |
| MPZmyelin protein zero | Aina | 2 sairaudessa |
| MRPL12mitochondrial ribosomal protein L12 | Aina | 1 sairaudessa |
| MYMXmyomixer, myoblast fusion factor | Aina | 1 sairaudessa |
| MYPNmyopalladin | Aina | 1 sairaudessa |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Aina | 2 sairaudessa |
| NSUN3NOP2/Sun RNA methyltransferase 3 | Aina | 1 sairaudessa |
| OPTNoptineurin | Aina | 1 sairaudessa |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Aina | 1 sairaudessa |
| PEX13peroxisomal biogenesis factor 13 | Aina | 1 sairaudessa |
| PGK1phosphoglycerate kinase 1 | Aina | 2 sairaudessa |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Aina | 2 sairaudessa |
| PMM2phosphomannomutase 2 | Aina | 1 sairaudessa |
| POLGDNA polymerase gamma, catalytic subunit | Aina | 2 sairaudessa |
| PSAPprosaposin | Aina | 5 sairaudessa |
| PTCRApre T cell antigen receptor alpha | Aina | 1 sairaudessa |
| PUS1pseudouridine synthase 1 | Aina | 1 sairaudessa |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Aina | 1 sairaudessa |
| RBSNrabenosyn, RAB effector | Aina | 2 sairaudessa |
| RCC1regulator of chromosome condensation 1 | Aina | 1 sairaudessa |
| RFC4replication factor C subunit 4 | Aina | 1 sairaudessa |
| RNASEH1ribonuclease H1 | Aina | 1 sairaudessa |
| RYR1ryanodine receptor 1 | Aina | 3 sairaudessa |
| SARS1seryl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Aina | 1 sairaudessa |
| SCO2synthesis of cytochrome C oxidase 2 | Aina | 1 sairaudessa |
| SERPING1serpin family G member 1 | Aina | 1 sairaudessa |
| SLC12A6solute carrier family 12 member 6 | Aina | 1 sairaudessa |
| SPEGstriated muscle enriched protein kinase | Aina | 1 sairaudessa |
| STAC3SH3 and cysteine rich domain 3 | Aina | 2 sairaudessa |
| TBCDtubulin folding cofactor D | Aina | 2 sairaudessa |
| TFGtrafficking from ER to golgi regulator | Aina | 1 sairaudessa |
| TNNC2troponin C2, fast skeletal type | Aina | 1 sairaudessa |
| TOE1target of EGR1, exonuclease | Aina | 1 sairaudessa |
| TOR1AIP1torsin 1A interacting protein 1 | Aina | 1 sairaudessa |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Aina | 1 sairaudessa |
| TRIM2tripartite motif containing 2 | Aina | 1 sairaudessa |
| TRIP4thyroid hormone receptor interactor 4 | Aina | 1 sairaudessa |
| TRMT5tRNA methyltransferase 5 | Aina | 1 sairaudessa |
| TRU-TCA1-1tRNA-SeC (anticodon TCA) 1-1 | Aina | 1 sairaudessa |
| TWNKtwinkle mtDNA helicase | Aina | 2 sairaudessa |
| UQCC3ubiquinol-cytochrome c reductase complex assembly factor 3 | Aina | 1 sairaudessa |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Aina | 1 sairaudessa |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| VCPvalosin containing protein | Aina | 1 sairaudessa |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Aina | 2 sairaudessa |
| ALAS25'-aminolevulinate synthase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| ATL1atlastin GTPase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ATL3atlastin GTPase 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| ATP13A2ATPase cation transporting 13A2 | Hyvin usein (80–99%) | 2 sairaudessa |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Hyvin usein (80–99%) | 2 sairaudessa |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Hyvin usein (80–99%) | 2 sairaudessa |
| CBLCbl proto-oncogene | Hyvin usein (80–99%) | 1 sairaudessa |
| CEP126centrosomal protein 126 | Hyvin usein (80–99%) | 1 sairaudessa |
| CHST14carbohydrate sulfotransferase 14 | Hyvin usein (80–99%) | 1 sairaudessa |
| COL4A1collagen type IV alpha 1 chain | Hyvin usein (80–99%) | 1 sairaudessa |
| COL6A1collagen type VI alpha 1 chain | Hyvin usein (80–99%) | 2 sairaudessa |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CRPPACDP-L-ribitol pyrophosphorylase A | Hyvin usein (80–99%) | 2 sairaudessa |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| DAG1dystroglycan 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| DSEdermatan sulfate epimerase | Hyvin usein (80–99%) | 1 sairaudessa |
| ERLIN1ER lipid raft associated 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ERLIN2ER lipid raft associated 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| EXOSC3exosome component 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| EXOSC8exosome component 8 | Hyvin usein (80–99%) | 2 sairaudessa |
| EXOSC9exosome component 9 | Hyvin usein (80–99%) | 2 sairaudessa |
| FKRPfukutin related protein | Hyvin usein (80–99%) | 2 sairaudessa |
| FKTNfukutin | Hyvin usein (80–99%) | 2 sairaudessa |
| FOXE1forkhead box E1 | Hyvin usein (80–99%) | 1 sairaudessa |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| FUSFUS RNA binding protein | Hyvin usein (80–99%) | 1 sairaudessa |
| GBE11,4-alpha-glucan branching enzyme 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Hyvin usein (80–99%) | 2 sairaudessa |
| IFRD1interferon related developmental regulator 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| KIF1Akinesin family member 1A | Hyvin usein (80–99%) | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LGI1leucine rich glioma inactivated 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LZTR1leucine zipper like post translational regulator 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| MRASmuscle RAS oncogene homolog | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Hyvin usein (80–99%) | 3 sairaudessa |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Hyvin usein (80–99%) | 4 sairaudessa |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Hyvin usein (80–99%) | 2 sairaudessa |
| NAGAalpha-N-acetylgalactosaminidase | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Hyvin usein (80–99%) | 2 sairaudessa |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NKX2-1NK2 homeobox 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NKX2-5NK2 homeobox 5 | Hyvin usein (80–99%) | 2 sairaudessa |
| NRASNRAS proto-oncogene, GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Hyvin usein (80–99%) | 1 sairaudessa |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Hyvin usein (80–99%) | 1 sairaudessa |
| PAX8paired box 8 | Hyvin usein (80–99%) | 2 sairaudessa |
| PLP1proteolipid protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Hyvin usein (80–99%) | 2 sairaudessa |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Hyvin usein (80–99%) | 1 sairaudessa |
| POMKprotein O-mannose kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| POMT1protein O-mannosyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| POMT2protein O-mannosyltransferase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| PRRT2proline rich transmembrane protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Hyvin usein (80–99%) | 1 sairaudessa |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| RASA2RAS p21 protein activator 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RIT1Ras like without CAAX 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RRASRAS related | Hyvin usein (80–99%) | 1 sairaudessa |
| RRAS2RAS related 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RXYLT1ribitol xylosyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SEPHS1selenophosphate synthetase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SIGMAR1sigma receptor chaperone 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC22A5solute carrier family 22 member 5 | Hyvin usein (80–99%) | 2 sairaudessa |
| SLC25A20solute carrier family 25 member 20 | Hyvin usein (80–99%) | 2 sairaudessa |
| SLC25A46solute carrier family 25 member 46 | Hyvin usein (80–99%) | 2 sairaudessa |
| SLC26A4solute carrier family 26 member 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| SORDsorbitol dehydrogenase | Hyvin usein (80–99%) | 1 sairaudessa |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Hyvin usein (80–99%) | 1 sairaudessa |
| SPRED2sprouty related EVH1 domain containing 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TARDBPTAR DNA binding protein | Hyvin usein (80–99%) | 2 sairaudessa |
| TIMM50translocase of inner mitochondrial membrane 50 | Hyvin usein (80–99%) | 2 sairaudessa |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM126Btransmembrane protein 126B | Hyvin usein (80–99%) | 2 sairaudessa |
| TRMT2BtRNA methyltransferase 2B | Hyvin usein (80–99%) | 1 sairaudessa |
| TRMUtRNA mitochondrial 2-thiouridylase | Hyvin usein (80–99%) | 1 sairaudessa |
| TSHRthyroid stimulating hormone receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| TTPAalpha tocopherol transfer protein | Hyvin usein (80–99%) | 1 sairaudessa |
| UBQLN2ubiquilin 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| VRK1VRK serine/threonine kinase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| ABCA2ATP binding cassette subfamily A member 2 | Usein (30–79%) | 1 sairaudessa |
| ADA2adenosine deaminase 2 | Usein (30–79%) | 1 sairaudessa |
| ALADaminolevulinate dehydratase | Usein (30–79%) | 1 sairaudessa |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Usein (30–79%) | 2 sairaudessa |
| ANK1ankyrin 1 | Usein (30–79%) | 1 sairaudessa |
| ARSAarylsulfatase A | Usein (30–79%) | 3 sairaudessa |
| ATG7autophagy related 7 | Usein (30–79%) | 1 sairaudessa |
| ATP5F1AATP synthase F1 subunit alpha | Usein (30–79%) | 1 sairaudessa |
| ATP5F1DATP synthase F1 subunit delta | Usein (30–79%) | 2 sairaudessa |
| ATP5F1EATP synthase F1 subunit epsilon | Usein (30–79%) | 1 sairaudessa |
| ATP5MKATP synthase membrane subunit k | Usein (30–79%) | 1 sairaudessa |
| ATP5POATP synthase peripheral stalk subunit OSCP | Usein (30–79%) | 1 sairaudessa |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Usein (30–79%) | 1 sairaudessa |
| ATP7AATPase copper transporting alpha | Usein (30–79%) | 1 sairaudessa |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Usein (30–79%) | 1 sairaudessa |
| ATRXATRX chromatin remodeler | Usein (30–79%) | 1 sairaudessa |
| ATXN7ataxin 7 | Usein (30–79%) | 1 sairaudessa |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| BCORBCL6 corepressor | Usein (30–79%) | 1 sairaudessa |
| BSNDbarttin CLCNK type accessory subunit beta | Usein (30–79%) | 1 sairaudessa |
| CASP2caspase 2 | Usein (30–79%) | 1 sairaudessa |
| CAV1caveolin 1 | Usein (30–79%) | 1 sairaudessa |
| CAVIN1caveolae associated protein 1 | Usein (30–79%) | 1 sairaudessa |
| CCM2CCM2 scaffold protein | Usein (30–79%) | 1 sairaudessa |
| CCN2cellular communication network factor 2 | Usein (30–79%) | 1 sairaudessa |
| CCN6cellular communication network factor 6 | Usein (30–79%) | 2 sairaudessa |
| CCR6C-C motif chemokine receptor 6 | Usein (30–79%) | 1 sairaudessa |
| CDH23cadherin related 23 | Usein (30–79%) | 1 sairaudessa |
| CDKN2Acyclin dependent kinase inhibitor 2A | Usein (30–79%) | 1 sairaudessa |
| CLCNKAchloride voltage-gated channel Ka | Usein (30–79%) | 1 sairaudessa |
| CLCNKBchloride voltage-gated channel Kb | Usein (30–79%) | 2 sairaudessa |
| COL1A1collagen type I alpha 1 chain | Usein (30–79%) | 1 sairaudessa |
| COL5A1collagen type V alpha 1 chain | Usein (30–79%) | 1 sairaudessa |
| COL5A2collagen type V alpha 2 chain | Usein (30–79%) | 1 sairaudessa |
| CPT2carnitine palmitoyltransferase 2 | Usein (30–79%) | 3 sairaudessa |
| CTNNB1catenin beta 1 | Usein (30–79%) | 1 sairaudessa |
| EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Usein (30–79%) | 1 sairaudessa |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| EPB42erythrocyte membrane protein band 4.2 | Usein (30–79%) | 1 sairaudessa |
| EXOC8exocyst complex component 8 | Usein (30–79%) | 1 sairaudessa |
| FGF23fibroblast growth factor 23 | Usein (30–79%) | 1 sairaudessa |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Usein (30–79%) | 1 sairaudessa |
| FMR1fragile X messenger ribonucleoprotein 1 | Usein (30–79%) | 1 sairaudessa |
| FOXC2forkhead box C2 | Usein (30–79%) | 1 sairaudessa |
| FXNfrataxin | Usein (30–79%) | 1 sairaudessa |
| GATMglycine amidinotransferase | Usein (30–79%) | 3 sairaudessa |
| GCKglucokinase | Usein (30–79%) | 1 sairaudessa |
| GJA1gap junction protein alpha 1 | Usein (30–79%) | 1 sairaudessa |
| GOSR2golgi SNAP receptor complex member 2 | Usein (30–79%) | 1 sairaudessa |
| GTPBP2GTP binding protein 2 | Usein (30–79%) | 1 sairaudessa |
| GYS1glycogen synthase 1 | Usein (30–79%) | 1 sairaudessa |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Usein (30–79%) | 1 sairaudessa |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Usein (30–79%) | 1 sairaudessa |
| HAMPhepcidin antimicrobial peptide | Usein (30–79%) | 1 sairaudessa |
| HIVEP2HIVEP zinc finger 2 | Usein (30–79%) | 1 sairaudessa |
| HJVhemojuvelin BMP co-receptor | Usein (30–79%) | 1 sairaudessa |
| HLA-Bmajor histocompatibility complex, class I, B | Usein (30–79%) | 2 sairaudessa |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Usein (30–79%) | 3 sairaudessa |
| IBA57iron-sulfur cluster assembly factor IBA57 | Usein (30–79%) | 1 sairaudessa |
| IL12Binterleukin 12B | Usein (30–79%) | 1 sairaudessa |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Usein (30–79%) | 1 sairaudessa |
| IRF5interferon regulatory factor 5 | Usein (30–79%) | 1 sairaudessa |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Usein (30–79%) | 2 sairaudessa |
| KRIT1KRIT1 ankyrin repeat containing | Usein (30–79%) | 1 sairaudessa |
| L1CAML1 cell adhesion molecule | Usein (30–79%) | 1 sairaudessa |
| LEMD2LEM domain nuclear envelope protein 2 | Usein (30–79%) | 1 sairaudessa |
| LIPElipase E, hormone sensitive type | Usein (30–79%) | 1 sairaudessa |
| LMNB1lamin B1 | Usein (30–79%) | 1 sairaudessa |
| LRPPRCleucine rich pentatricopeptide repeat containing | Usein (30–79%) | 1 sairaudessa |
| LYRM7LYR motif containing 7 | Usein (30–79%) | 1 sairaudessa |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Usein (30–79%) | 1 sairaudessa |
| MLXMAX dimerization protein MLX | Usein (30–79%) | 1 sairaudessa |
| MPV17mitochondrial inner membrane protein MPV17 | Usein (30–79%) | 1 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Usein (30–79%) | 2 sairaudessa |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Usein (30–79%) | 2 sairaudessa |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Usein (30–79%) | 1 sairaudessa |
| MYH7myosin heavy chain 7 | Usein (30–79%) | 2 sairaudessa |
| NABP1nucleic acid binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 2 sairaudessa |
| NDC1NDC1 transmembrane nucleoporin | Usein (30–79%) | 1 sairaudessa |
| NEU1neuraminidase 1 | Usein (30–79%) | 2 sairaudessa |
| NFE2L2NFE2 like bZIP transcription factor 2 | Usein (30–79%) | 1 sairaudessa |
| NFU1NFU1 iron-sulfur cluster scaffold | Usein (30–79%) | 1 sairaudessa |
| NOP56NOP56 ribonucleoprotein | Usein (30–79%) | 1 sairaudessa |
| NOTCH2NLCnotch 2 N-terminal like C | Usein (30–79%) | 1 sairaudessa |
| NPM1nucleophosmin 1 | Usein (30–79%) | 1 sairaudessa |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Usein (30–79%) | 1 sairaudessa |
| NTNG2netrin G2 | Usein (30–79%) | 1 sairaudessa |
| NUMA1nuclear mitotic apparatus protein 1 | Usein (30–79%) | 1 sairaudessa |
| PDCD10programmed cell death 10 | Usein (30–79%) | 1 sairaudessa |
| PFKMphosphofructokinase, muscle | Usein (30–79%) | 2 sairaudessa |
| PGAP2post-GPI attachment to proteins 2 | Usein (30–79%) | 1 sairaudessa |
| PGM2L1phosphoglucomutase 2 like 1 | Usein (30–79%) | 1 sairaudessa |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Usein (30–79%) | 1 sairaudessa |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Usein (30–79%) | 1 sairaudessa |
| PMLPML nuclear body scaffold | Usein (30–79%) | 1 sairaudessa |
| PMP22peripheral myelin protein 22 | Usein (30–79%) | 2 sairaudessa |
| PMPCApeptidase, mitochondrial processing subunit alpha | Usein (30–79%) | 1 sairaudessa |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| PPOXprotoporphyrinogen oxidase | Usein (30–79%) | 1 sairaudessa |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Usein (30–79%) | 3 sairaudessa |
| PRNPprion protein (Kanno blood group) | Usein (30–79%) | 1 sairaudessa |
| RARAretinoic acid receptor alpha | Usein (30–79%) | 1 sairaudessa |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Usein (30–79%) | 1 sairaudessa |
| RPS6KC1ribosomal protein S6 kinase C1 | Usein (30–79%) | 1 sairaudessa |
| SACSsacsin molecular chaperone | Usein (30–79%) | 1 sairaudessa |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Usein (30–79%) | 3 sairaudessa |
| SCNN1Asodium channel epithelial 1 subunit alpha | Usein (30–79%) | 1 sairaudessa |
| SCNN1Bsodium channel epithelial 1 subunit beta | Usein (30–79%) | 1 sairaudessa |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Usein (30–79%) | 1 sairaudessa |
| SLC12A3solute carrier family 12 member 3 | Usein (30–79%) | 2 sairaudessa |
| SLC25A4solute carrier family 25 member 4 | Usein (30–79%) | 1 sairaudessa |
| SLC34A1solute carrier family 34 member 1 | Usein (30–79%) | 1 sairaudessa |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Usein (30–79%) | 2 sairaudessa |
| SLC52A3solute carrier family 52 member 3 | Usein (30–79%) | 1 sairaudessa |
| SLC5A7solute carrier family 5 member 7 | Usein (30–79%) | 1 sairaudessa |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Usein (30–79%) | 2 sairaudessa |
| SPARCsecreted protein acidic and cysteine rich | Usein (30–79%) | 1 sairaudessa |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Usein (30–79%) | 1 sairaudessa |
| SPRsepiapterin reductase | Usein (30–79%) | 1 sairaudessa |
| SPTA1spectrin alpha, erythrocytic 1 | Usein (30–79%) | 1 sairaudessa |
| SPTBspectrin beta, erythrocytic | Usein (30–79%) | 1 sairaudessa |
| STAT3signal transducer and activator of transcription 3 | Usein (30–79%) | 1 sairaudessa |
| STAT5Bsignal transducer and activator of transcription 5B | Usein (30–79%) | 1 sairaudessa |
| SVILsupervillin | Usein (30–79%) | 1 sairaudessa |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Usein (30–79%) | 1 sairaudessa |
| TBL1XR1TBL1X/Y related 1 | Usein (30–79%) | 1 sairaudessa |
| TEFMtranscription elongation factor, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| TERTtelomerase reverse transcriptase | Usein (30–79%) | 1 sairaudessa |
| TGFB1transforming growth factor beta 1 | Usein (30–79%) | 2 sairaudessa |
| TNXBtenascin XB | Usein (30–79%) | 1 sairaudessa |
| TP53tumor protein p53 | Usein (30–79%) | 2 sairaudessa |
| USP48ubiquitin specific peptidase 48 | Usein (30–79%) | 1 sairaudessa |
| USP8ubiquitin specific peptidase 8 | Usein (30–79%) | 1 sairaudessa |
| WDR83OSWD repeat domain 83 opposite strand | Usein (30–79%) | 1 sairaudessa |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Usein (30–79%) | 1 sairaudessa |
| XYLT2xylosyltransferase 2 | Usein (30–79%) | 1 sairaudessa |
| YARS2tyrosyl-tRNA synthetase 2 | Usein (30–79%) | 1 sairaudessa |
| ZBTB16zinc finger and BTB domain containing 16 | Usein (30–79%) | 1 sairaudessa |
| ZFYVE26zinc finger FYVE-type containing 26 | Usein (30–79%) | 1 sairaudessa |
| ZNRF3zinc and ring finger 3 | Usein (30–79%) | 1 sairaudessa |
| AHCYadenosylhomocysteinase | Joskus (5–29%) | 1 sairaudessa |
| ANOS1anosmin 1 | Joskus (5–29%) | 1 sairaudessa |
| AP2S1adaptor related protein complex 2 subunit sigma 1 | Joskus (5–29%) | 1 sairaudessa |
| ASLargininosuccinate lyase | Joskus (5–29%) | 1 sairaudessa |
| ATXN1ataxin 1 | Joskus (5–29%) | 1 sairaudessa |
| BMP6bone morphogenetic protein 6 | Joskus (5–29%) | 1 sairaudessa |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| CASQ1calsequestrin 1 | Joskus (5–29%) | 1 sairaudessa |
| CCDC141coiled-coil domain containing 141 | Joskus (5–29%) | 1 sairaudessa |
| CD4CD4 molecule | Joskus (5–29%) | 1 sairaudessa |
| CDC73cell division cycle 73 | Joskus (5–29%) | 2 sairaudessa |
| CHD7chromodomain helicase DNA binding protein 7 | Joskus (5–29%) | 1 sairaudessa |
| CLCN2chloride voltage-gated channel 2 | Joskus (5–29%) | 1 sairaudessa |
| CNNM2cyclin and CBS domain divalent metal cation transport mediator 2 | Joskus (5–29%) | 1 sairaudessa |
| COL13A1collagen type XIII alpha 1 chain | Joskus (5–29%) | 1 sairaudessa |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Joskus (5–29%) | 1 sairaudessa |
| COQ6coenzyme Q6, monooxygenase | Joskus (5–29%) | 1 sairaudessa |
| CYP11B1cytochrome P450 family 11 subfamily B member 1 | Joskus (5–29%) | 1 sairaudessa |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Joskus (5–29%) | 1 sairaudessa |
| DCCDCC netrin 1 receptor | Joskus (5–29%) | 1 sairaudessa |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Joskus (5–29%) | 1 sairaudessa |
| DNA2DNA replication helicase/nuclease 2 | Joskus (5–29%) | 1 sairaudessa |
| DTNAdystrobrevin alpha | Joskus (5–29%) | 1 sairaudessa |
| DUSP6dual specificity phosphatase 6 | Joskus (5–29%) | 1 sairaudessa |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Joskus (5–29%) | 1 sairaudessa |
| EMX2empty spiracles homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| FBN1fibrillin 1 | Joskus (5–29%) | 2 sairaudessa |
| FEZF1FEZ family zinc finger 1 | Joskus (5–29%) | 1 sairaudessa |
| FGF17fibroblast growth factor 17 | Joskus (5–29%) | 1 sairaudessa |
| FGF8fibroblast growth factor 8 | Joskus (5–29%) | 1 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Joskus (5–29%) | 1 sairaudessa |
| GALCgalactosylceramidase | Joskus (5–29%) | 1 sairaudessa |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Joskus (5–29%) | 1 sairaudessa |
| HESX1HESX homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| HFEhomeostatic iron regulator | Joskus (5–29%) | 1 sairaudessa |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Joskus (5–29%) | 2 sairaudessa |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| HSPG2heparan sulfate proteoglycan 2 | Joskus (5–29%) | 2 sairaudessa |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| IL17RDinterleukin 17 receptor D | Joskus (5–29%) | 1 sairaudessa |
| IRAK1interleukin 1 receptor associated kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| IRF4interferon regulatory factor 4 | Joskus (5–29%) | 1 sairaudessa |
| LAMB2laminin subunit beta 2 | Joskus (5–29%) | 1 sairaudessa |
| LYSTlysosomal trafficking regulator | Joskus (5–29%) | 2 sairaudessa |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Joskus (5–29%) | 1 sairaudessa |
| MMUTmethylmalonyl-CoA mutase | Joskus (5–29%) | 1 sairaudessa |
| NBNnibrin | Joskus (5–29%) | 1 sairaudessa |
| NDNFneuron derived neurotrophic factor | Joskus (5–29%) | 1 sairaudessa |
| NDPnorrin cystine knot growth factor NDP | Joskus (5–29%) | 1 sairaudessa |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Joskus (5–29%) | 1 sairaudessa |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Joskus (5–29%) | 1 sairaudessa |
| PDE11Aphosphodiesterase 11A | Joskus (5–29%) | 1 sairaudessa |
| PEX5peroxisomal biogenesis factor 5 | Joskus (5–29%) | 1 sairaudessa |
| PGAM2phosphoglycerate mutase 2 | Joskus (5–29%) | 1 sairaudessa |
| PGM1phosphoglucomutase 1 | Joskus (5–29%) | 1 sairaudessa |
| PHEXphosphate regulating endopeptidase X-linked | Joskus (5–29%) | 1 sairaudessa |
| PHKBphosphorylase kinase regulatory subunit beta | Joskus (5–29%) | 1 sairaudessa |
| POLRMTRNA polymerase mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| PROK2prokineticin 2 | Joskus (5–29%) | 1 sairaudessa |
| PROKR2prokineticin receptor 2 | Joskus (5–29%) | 1 sairaudessa |
| PTENphosphatase and tensin homolog | Joskus (5–29%) | 1 sairaudessa |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Joskus (5–29%) | 1 sairaudessa |
| PYGMglycogen phosphorylase, muscle associated | Joskus (5–29%) | 2 sairaudessa |
| RPS6KA3ribosomal protein S6 kinase A3 | Joskus (5–29%) | 1 sairaudessa |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Joskus (5–29%) | 1 sairaudessa |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| SEMA3Asemaphorin 3A | Joskus (5–29%) | 1 sairaudessa |
| SFRP4secreted frizzled related protein 4 | Joskus (5–29%) | 2 sairaudessa |
| SLC9A7solute carrier family 9 member A7 | Joskus (5–29%) | 1 sairaudessa |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Joskus (5–29%) | 1 sairaudessa |
| SOX10SRY-box transcription factor 10 | Joskus (5–29%) | 1 sairaudessa |
| SPP1secreted phosphoprotein 1 | Joskus (5–29%) | 1 sairaudessa |
| SPRY4sprouty RTK signaling antagonist 4 | Joskus (5–29%) | 1 sairaudessa |
| STAT1signal transducer and activator of transcription 1 | Joskus (5–29%) | 1 sairaudessa |
| STAT4signal transducer and activator of transcription 4 | Joskus (5–29%) | 1 sairaudessa |
| TACR3tachykinin receptor 3 | Joskus (5–29%) | 1 sairaudessa |
| TRMT1tRNA methyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| WDR11WD repeat domain 11 | Joskus (5–29%) | 1 sairaudessa |
| COL9A1collagen type IX alpha 1 chain | Harvinainen (1–4 %) | 1 sairaudessa |
| COL9A2collagen type IX alpha 2 chain | Harvinainen (1–4 %) | 1 sairaudessa |
| COL9A3collagen type IX alpha 3 chain | Harvinainen (1–4 %) | 1 sairaudessa |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Harvinainen (1–4 %) | 2 sairaudessa |
| AAASaladin WD repeat nucleoporin | Ei kirjattu | 1 sairaudessa |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Ei kirjattu | 1 sairaudessa |
| ACAD9acyl-CoA dehydrogenase family member 9 | Ei kirjattu | 1 sairaudessa |
| ACADVLacyl-CoA dehydrogenase very long chain | Ei kirjattu | 1 sairaudessa |
| ACTN2actinin alpha 2 | Ei kirjattu | 1 sairaudessa |
| ACY1aminoacylase 1 | Ei kirjattu | 1 sairaudessa |
| ADPRSADP-ribosylserine hydrolase | Ei kirjattu | 1 sairaudessa |
| AGKacylglycerol kinase | Ei kirjattu | 1 sairaudessa |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ei kirjattu | 1 sairaudessa |
| APTXaprataxin | Ei kirjattu | 1 sairaudessa |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ei kirjattu | 1 sairaudessa |
| BET1Bet1 golgi vesicular membrane trafficking protein | Ei kirjattu | 1 sairaudessa |
| BOLA3bolA family member 3 | Ei kirjattu | 1 sairaudessa |
| C9orf72C9orf72-SMCR8 complex subunit | Ei kirjattu | 1 sairaudessa |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Ei kirjattu | 2 sairaudessa |
| CASKcalcium/calmodulin dependent serine protein kinase | Ei kirjattu | 1 sairaudessa |
| CCNFcyclin F | Ei kirjattu | 1 sairaudessa |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Ei kirjattu | 1 sairaudessa |
| CHRNDcholinergic receptor nicotinic delta subunit | Ei kirjattu | 1 sairaudessa |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Ei kirjattu | 1 sairaudessa |
| COQ7coenzyme Q7, hydroxylase | Ei kirjattu | 1 sairaudessa |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Ei kirjattu | 1 sairaudessa |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
| DCTN1dynactin subunit 1 | Ei kirjattu | 1 sairaudessa |
| DMP1dentin matrix acidic phosphoprotein 1 | Ei kirjattu | 1 sairaudessa |
| DMPKDM1 protein kinase | Ei kirjattu | 1 sairaudessa |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Ei kirjattu | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ei kirjattu | 1 sairaudessa |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ei kirjattu | 1 sairaudessa |
| ETFAelectron transfer flavoprotein subunit alpha | Ei kirjattu | 1 sairaudessa |
| ETFBelectron transfer flavoprotein subunit beta | Ei kirjattu | 1 sairaudessa |
| ETFDHelectron transfer flavoprotein dehydrogenase | Ei kirjattu | 1 sairaudessa |
| FDX2ferredoxin 2 | Ei kirjattu | 1 sairaudessa |
| FLNCfilamin C | Ei kirjattu | 1 sairaudessa |
| GFERgrowth factor, augmenter of liver regeneration | Ei kirjattu | 1 sairaudessa |
| GPIglucose-6-phosphate isomerase | Ei kirjattu | 1 sairaudessa |
| HEXBhexosaminidase subunit beta | Ei kirjattu | 1 sairaudessa |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ei kirjattu | 1 sairaudessa |
| HMBShydroxymethylbilane synthase | Ei kirjattu | 1 sairaudessa |
| IFIH1interferon induced with helicase C domain 1 | Ei kirjattu | 1 sairaudessa |
| ISCUiron-sulfur cluster assembly enzyme | Ei kirjattu | 1 sairaudessa |
| KLHL41kelch like family member 41 | Ei kirjattu | 1 sairaudessa |
| LIMS2LIM zinc finger domain containing 2 | Ei kirjattu | 1 sairaudessa |
| LMNAlamin A/C | Ei kirjattu | 1 sairaudessa |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ei kirjattu | 1 sairaudessa |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Ei kirjattu | 1 sairaudessa |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Ei kirjattu | 1 sairaudessa |
| MTHFRmethylenetetrahydrofolate reductase | Ei kirjattu | 1 sairaudessa |
| MTRFRmitochondrial translation release factor in rescue | Ei kirjattu | 1 sairaudessa |
| MYH3myosin heavy chain 3 | Ei kirjattu | 1 sairaudessa |
| MYO9Amyosin IXA | Ei kirjattu | 1 sairaudessa |
| NEFHneurofilament heavy chain | Ei kirjattu | 1 sairaudessa |
| NF1neurofibromin 1 | Ei kirjattu | 1 sairaudessa |
| PAX7paired box 7 | Ei kirjattu | 1 sairaudessa |
| PCNAproliferating cell nuclear antigen | Ei kirjattu | 1 sairaudessa |
| PEX11Bperoxisomal biogenesis factor 11 beta | Ei kirjattu | 1 sairaudessa |
| PEX7peroxisomal biogenesis factor 7 | Ei kirjattu | 1 sairaudessa |
| PFN1profilin 1 | Ei kirjattu | 1 sairaudessa |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Ei kirjattu | 1 sairaudessa |
| POLR3ARNA polymerase III subunit A | Ei kirjattu | 1 sairaudessa |
| PREPLprolyl endopeptidase like | Ei kirjattu | 1 sairaudessa |
| PRPHperipherin | Ei kirjattu | 1 sairaudessa |
| PSMB8proteasome 20S subunit beta 8 | Ei kirjattu | 1 sairaudessa |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ei kirjattu | 1 sairaudessa |
| SEPTIN9septin 9 | Ei kirjattu | 1 sairaudessa |
| SLC25A1solute carrier family 25 member 1 | Ei kirjattu | 1 sairaudessa |
| SLC25A19solute carrier family 25 member 19 | Ei kirjattu | 1 sairaudessa |
| SLC25A24solute carrier family 25 member 24 | Ei kirjattu | 1 sairaudessa |
| SLC25A26solute carrier family 25 member 26 | Ei kirjattu | 1 sairaudessa |
| SLC33A1solute carrier family 33 member 1 | Ei kirjattu | 1 sairaudessa |
| SLC34A3solute carrier family 34 member 3 | Ei kirjattu | 1 sairaudessa |
| SLC7A7solute carrier family 7 member 7 | Ei kirjattu | 1 sairaudessa |
| SMN1survival of motor neuron 1, telomeric | Ei kirjattu | 1 sairaudessa |
| SMPD1sphingomyelin phosphodiesterase 1 | Ei kirjattu | 1 sairaudessa |
| SOD1superoxide dismutase 1 | Ei kirjattu | 1 sairaudessa |
| SQSTM1sequestosome 1 | Ei kirjattu | 1 sairaudessa |
| TANGO2transport and golgi organization 2 homolog | Ei kirjattu | 1 sairaudessa |
| TBK1TANK binding kinase 1 | Ei kirjattu | 1 sairaudessa |
| TCN2transcobalamin 2 | Ei kirjattu | 1 sairaudessa |
| TGFB2transforming growth factor beta 2 | Ei kirjattu | 1 sairaudessa |
| TMEM165transmembrane protein 165 | Ei kirjattu | 1 sairaudessa |
| TNFRSF11BTNF receptor superfamily member 11b | Ei kirjattu | 1 sairaudessa |
| TPI1triosephosphate isomerase 1 | Ei kirjattu | 1 sairaudessa |
| TRPM7transient receptor potential cation channel subfamily M member 7 | Ei kirjattu | 1 sairaudessa |
| TSFMTs translation elongation factor, mitochondrial | Ei kirjattu | 1 sairaudessa |
| TTC19tetratricopeptide repeat domain 19 | Ei kirjattu | 1 sairaudessa |
| TTRtransthyretin | Ei kirjattu | 1 sairaudessa |
| ZC4H2zinc finger C4H2-type containing | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
- Poor head control251 geeniä
- Proximal neurogenic muscle weakness192 geeniä
- Weakness of outermost muscles176 geeniä
- Bell's palsy157 geeniä
- Generalized muscle weakness122 geeniä
- Limb muscle weakness66 geeniä
- Progressive muscle weakness64 geeniä
- Neck muscle weakness63 geeniä
- Axial muscle weakness54 geeniä
- Limb-girdle muscle weakness47 geeniä
- Bulbar palsy36 geeniä
- Fatigable weakness27 geeniä
- Abdominal wall muscle weakness17 geeniä
- Weak diaphragm13 geeniä
- Weakness of muscles of respiration12 geeniä
- Muscle weakness between ribs11 geeniä
- Muscle flaccidity7 geeniä
- Ankle weakness6 geeniä
- Scapuloperoneal weakness4 geeniä
- Weakness of orbicularis oculi muscle2 geeniä
- Cold paresis1 geeni
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
Yksi testi. Vastauksia koko elämäksi.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa