Piirre
Ataxia
Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Yhteenveto
- Tunnetaan myös nimellä
- Cerebellar ataxia
- Elimistön järjestelmä
- Abnormality of the nervous system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Ataxia, and the rest of your genome, with one test.
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Tilaa Genome Test933 geeniä, jotka liittyvät piirteeseen Ataxia
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Ataxia 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 |
|---|---|---|
| ABCB1ATP binding cassette subfamily B member 1 | Aina | 1 sairaudessa |
| ABCB7ATP binding cassette subfamily B member 7 | Aina | 2 sairaudessa |
| ACO2aconitase 2 | Aina | 1 sairaudessa |
| ADPRSADP-ribosylserine hydrolase | Aina | 1 sairaudessa |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Aina | 3 sairaudessa |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Aina | 2 sairaudessa |
| AHI1Abelson helper integration site 1 | Aina | 3 sairaudessa |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Aina | 2 sairaudessa |
| APTXaprataxin | Aina | 3 sairaudessa |
| ARL13BARF like GTPase 13B | Aina | 2 sairaudessa |
| ARL3ARF like GTPase 3 | Aina | 2 sairaudessa |
| ARV1ARV1 fatty acid homeostasis modulator | Aina | 1 sairaudessa |
| ATCAYATCAY kinesin light chain interacting caytaxin | Aina | 1 sairaudessa |
| ATG5autophagy related 5 | Aina | 1 sairaudessa |
| ATG7autophagy related 7 | Aina | 1 sairaudessa |
| ATMATM serine/threonine kinase | Aina | 2 sairaudessa |
| ATP13A2ATPase cation transporting 13A2 | Aina | 3 sairaudessa |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Aina | 5 sairaudessa |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Aina | 1 sairaudessa |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Aina | 1 sairaudessa |
| ATXN2ataxin 2 | Aina | 1 sairaudessa |
| ATXN3ataxin 3 | Aina | 1 sairaudessa |
| ATXN7ataxin 7 | Aina | 1 sairaudessa |
| ATXN7L3ataxin 7 like 3 | Aina | 1 sairaudessa |
| B9D1B9 domain containing 1 | Aina | 2 sairaudessa |
| CA8carbonic anhydrase 8 (inactive) | Aina | 2 sairaudessa |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Aina | 2 sairaudessa |
| CAPRIN1cell cycle associated protein 1 | Aina | 1 sairaudessa |
| CBScystathionine beta-synthase | Aina | 1 sairaudessa |
| CCT3chaperonin containing TCP1 subunit 3 | Aina | 1 sairaudessa |
| CEP290centrosomal protein 290 | Aina | 4 sairaudessa |
| CHP1calcineurin like EF-hand protein 1 | Aina | 1 sairaudessa |
| CLN8CLN8 transmembrane ER and ERGIC protein | Aina | 2 sairaudessa |
| COA7cytochrome c oxidase assembly factor 7 | Aina | 1 sairaudessa |
| COG8component of oligomeric golgi complex 8 | Aina | 2 sairaudessa |
| COL18A1collagen type XVIII alpha 1 chain | Aina | 1 sairaudessa |
| COQ5coenzyme Q5, methyltransferase | Aina | 1 sairaudessa |
| COQ8Acoenzyme Q8A | Aina | 1 sairaudessa |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Aina | 2 sairaudessa |
| COX15cytochrome c oxidase assembly factor COX15 | Aina | 1 sairaudessa |
Näytä 893 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| COX20cytochrome c oxidase assembly factor COX20 | Aina | 1 sairaudessa |
| COX6B1cytochrome c oxidase subunit 6B1 | Aina | 1 sairaudessa |
| CRATcarnitine O-acetyltransferase | Aina | 1 sairaudessa |
| CST3cystatin C | Aina | 1 sairaudessa |
| CTBP1C-terminal binding protein 1 | Aina | 2 sairaudessa |
| CTSDcathepsin D | Aina | 1 sairaudessa |
| CWF19L1CWF19 like cell cycle control factor 1 | Aina | 1 sairaudessa |
| DAB1DAB adaptor protein 1 | Aina | 1 sairaudessa |
| DAGLAdiacylglycerol lipase alpha | Aina | 1 sairaudessa |
| DMXL2Dmx like 2 | Aina | 2 sairaudessa |
| DNMT1DNA methyltransferase 1 | Aina | 3 sairaudessa |
| ELOVL1ELOVL fatty acid elongase 1 | Aina | 1 sairaudessa |
| ELOVL5ELOVL fatty acid elongase 5 | Aina | 1 sairaudessa |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| EXOSC5exosome component 5 | Aina | 1 sairaudessa |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Aina | 1 sairaudessa |
| FTH1ferritin heavy chain 1 | Aina | 1 sairaudessa |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Aina | 1 sairaudessa |
| GFAPglial fibrillary acidic protein | Aina | 3 sairaudessa |
| GJC2gap junction protein gamma 2 | Aina | 3 sairaudessa |
| GOSR2golgi SNAP receptor complex member 2 | Aina | 2 sairaudessa |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Aina | 1 sairaudessa |
| GRM1glutamate metabotropic receptor 1 | Aina | 2 sairaudessa |
| GRNgranulin precursor | Aina | 1 sairaudessa |
| GTF3C3general transcription factor IIIC subunit 3 | Aina | 1 sairaudessa |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Aina | 1 sairaudessa |
| HMBShydroxymethylbilane synthase | Aina | 2 sairaudessa |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Aina | 1 sairaudessa |
| INPP5Einositol polyphosphate-5-phosphatase E | Aina | 4 sairaudessa |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Aina | 5 sairaudessa |
| KARS1lysyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Aina | 2 sairaudessa |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Aina | 3 sairaudessa |
| KDM6Blysine demethylase 6B | Aina | 1 sairaudessa |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Aina | 1 sairaudessa |
| LRRC7leucine rich repeat containing 7 | Aina | 1 sairaudessa |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Aina | 1 sairaudessa |
| MALmal, T cell differentiation protein (MAL blood group) | Aina | 1 sairaudessa |
| MARS1methionyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| MAU2MAU2 sister chromatid cohesion factor | Aina | 1 sairaudessa |
| MBD5methyl-CpG binding domain protein 5 | Aina | 2 sairaudessa |
| MCM3APminichromosome maintenance complex component 3 associated protein | Aina | 1 sairaudessa |
| MED16mediator complex subunit 16 | Aina | 1 sairaudessa |
| MICU1mitochondrial calcium uptake 1 | Aina | 2 sairaudessa |
| MKS1MKS transition zone complex subunit 1 | Aina | 4 sairaudessa |
| MRE11MRE11 double strand break repair nuclease | Aina | 2 sairaudessa |
| MRPL12mitochondrial ribosomal protein L12 | Aina | 1 sairaudessa |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Aina | 1 sairaudessa |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Aina | 4 sairaudessa |
| MVKmevalonate kinase | Aina | 3 sairaudessa |
| NADK2NAD kinase 2, mitochondrial | Aina | 1 sairaudessa |
| NARS1asparaginyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Aina | 2 sairaudessa |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Aina | 2 sairaudessa |
| NKX2-1NK2 homeobox 1 | Aina | 2 sairaudessa |
| NKX6-2NK6 homeobox 2 | Aina | 2 sairaudessa |
| NONOnon-POU domain containing octamer binding | Aina | 2 sairaudessa |
| NPTX1neuronal pentraxin 1 | Aina | 1 sairaudessa |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Aina | 2 sairaudessa |
| NUP54nucleoporin 54 | Aina | 2 sairaudessa |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Aina | 2 sairaudessa |
| OPA1OPA1 mitochondrial dynamin like GTPase | Aina | 5 sairaudessa |
| PCNAproliferating cell nuclear antigen | Aina | 1 sairaudessa |
| PEX10peroxisomal biogenesis factor 10 | Aina | 2 sairaudessa |
| PEX12peroxisomal biogenesis factor 12 | Aina | 2 sairaudessa |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Aina | 1 sairaudessa |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Aina | 2 sairaudessa |
| PLP1proteolipid protein 1 | Aina | 5 sairaudessa |
| PNKPpolynucleotide kinase 3'-phosphatase | Aina | 3 sairaudessa |
| PNPpurine nucleoside phosphorylase | Aina | 2 sairaudessa |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Aina | 1 sairaudessa |
| POLGDNA polymerase gamma, catalytic subunit | Aina | 7 sairaudessa |
| POLG2DNA polymerase gamma 2, accessory subunit | Aina | 2 sairaudessa |
| POLR1CRNA polymerase I and III subunit C | Aina | 2 sairaudessa |
| POLR3BRNA polymerase III subunit B | Aina | 4 sairaudessa |
| POLR3KRNA polymerase III subunit K | Aina | 1 sairaudessa |
| POU4F1POU class 4 homeobox 1 | Aina | 2 sairaudessa |
| PRF1perforin 1 | Aina | 1 sairaudessa |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Aina | 1 sairaudessa |
| PTRH2peptidyl-tRNA hydrolase 2 | Aina | 2 sairaudessa |
| RAB3ARAB3A, member RAS oncogene family | Aina | 1 sairaudessa |
| RAD50RAD50 double strand break repair protein | Aina | 1 sairaudessa |
| REPS1RALBP1 associated Eps domain containing 1 | Aina | 1 sairaudessa |
| RFC1replication factor C subunit 1 | Aina | 1 sairaudessa |
| RNF216ring finger protein 216 | Aina | 2 sairaudessa |
| RNF220ring finger protein 220 | Aina | 1 sairaudessa |
| RPGRIP1LRPGRIP1 like | Aina | 4 sairaudessa |
| RUBCNrubicon autophagy regulator | Aina | 1 sairaudessa |
| SACSsacsin molecular chaperone | Aina | 2 sairaudessa |
| SARS1seryl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Aina | 3 sairaudessa |
| SCO1synthesis of cytochrome C oxidase 1 | Aina | 1 sairaudessa |
| SCO2synthesis of cytochrome C oxidase 2 | Aina | 2 sairaudessa |
| SDHDsuccinate dehydrogenase complex subunit D | Aina | 2 sairaudessa |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Aina | 1 sairaudessa |
| SEMA6Bsemaphorin 6B | Aina | 1 sairaudessa |
| SIL1SIL1 nucleotide exchange factor | Aina | 2 sairaudessa |
| SLC13A3solute carrier family 13 member 3 | Aina | 1 sairaudessa |
| SLC18A2solute carrier family 18 member A2 | Aina | 2 sairaudessa |
| SLC4A10solute carrier family 4 member 10 | Aina | 1 sairaudessa |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Aina | 1 sairaudessa |
| SLC9A1solute carrier family 9 member A1 | Aina | 1 sairaudessa |
| SLC9A6solute carrier family 9 member A6 | Aina | 1 sairaudessa |
| SNAP25synaptosome associated protein 25 | Aina | 1 sairaudessa |
| SOD1superoxide dismutase 1 | Aina | 1 sairaudessa |
| SPTBN2spectrin beta, non-erythrocytic 2 | Aina | 1 sairaudessa |
| SQSTM1sequestosome 1 | Aina | 1 sairaudessa |
| STUB1STIP1 homology and U-box containing protein 1 | Aina | 1 sairaudessa |
| SUFUSUFU negative regulator of hedgehog signaling | Aina | 3 sairaudessa |
| SURF1SURF1 cytochrome c oxidase assembly factor | Aina | 2 sairaudessa |
| SYT14synaptotagmin 14 | Aina | 2 sairaudessa |
| TACO1translational activator of cytochrome c oxidase I | Aina | 1 sairaudessa |
| TANGO2transport and golgi organization 2 homolog | Aina | 2 sairaudessa |
| TCTN2tectonic family member 2 | Aina | 2 sairaudessa |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Aina | 2 sairaudessa |
| TEFMtranscription elongation factor, mitochondrial | Aina | 1 sairaudessa |
| TGM6transglutaminase 6 | Aina | 1 sairaudessa |
| THAP11THAP domain containing 11 | Aina | 1 sairaudessa |
| TMEM240transmembrane protein 240 | Aina | 1 sairaudessa |
| TMEM63Btransmembrane protein 63B | Aina | 1 sairaudessa |
| TOP3ADNA topoisomerase III alpha | Aina | 2 sairaudessa |
| TPP1tripeptidyl peptidase 1 | Aina | 2 sairaudessa |
| TTPAalpha tocopherol transfer protein | Aina | 2 sairaudessa |
| UBE3Aubiquitin protein ligase E3A | Aina | 5 sairaudessa |
| UCHL1ubiquitin C-terminal hydrolase L1 | Aina | 1 sairaudessa |
| UNC13Aunc-13 homolog A | Aina | 1 sairaudessa |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Aina | 1 sairaudessa |
| UROC1urocanate hydratase 1 | Aina | 2 sairaudessa |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| VPS41VPS41 subunit of HOPS complex | Aina | 1 sairaudessa |
| VRK1VRK serine/threonine kinase 1 | Aina | 2 sairaudessa |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Aina | 3 sairaudessa |
| WWOXWW domain containing oxidoreductase | Aina | 1 sairaudessa |
| XRCC4X-ray repair cross complementing 4 | Aina | 1 sairaudessa |
| ZBTB11zinc finger and BTB domain containing 11 | Aina | 1 sairaudessa |
| ACBD6acyl-CoA binding domain containing 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Hyvin usein (80–99%) | 2 sairaudessa |
| ARMC9armadillo repeat containing 9 | Hyvin usein (80–99%) | 1 sairaudessa |
| ATAD1ATPase family AAA domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ATP8A2ATPase phospholipid transporting 8A2 | Hyvin usein (80–99%) | 1 sairaudessa |
| B9D2B9 domain containing 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Hyvin usein (80–99%) | 1 sairaudessa |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Hyvin usein (80–99%) | 1 sairaudessa |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Hyvin usein (80–99%) | 7 sairaudessa |
| CBY1chibby 1, beta catenin antagonist | Hyvin usein (80–99%) | 1 sairaudessa |
| CC2D2Acoiled-coil and C2 domain containing 2A | Hyvin usein (80–99%) | 2 sairaudessa |
| CEP104centrosomal protein 104 | Hyvin usein (80–99%) | 2 sairaudessa |
| CEP120centrosomal protein 120 | Hyvin usein (80–99%) | 2 sairaudessa |
| CEP41centrosomal protein 41 | Hyvin usein (80–99%) | 3 sairaudessa |
| CLIP2CAP-Gly domain containing linker protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| CLTRNcollectrin, amino acid transport regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| CPLX1complexin 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| CSPP1centrosome and spindle pole associated protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Hyvin usein (80–99%) | 2 sairaudessa |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Hyvin usein (80–99%) | 2 sairaudessa |
| EIF4Heukaryotic translation initiation factor 4H | Hyvin usein (80–99%) | 1 sairaudessa |
| ELNelastin | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Hyvin usein (80–99%) | 3 sairaudessa |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Hyvin usein (80–99%) | 3 sairaudessa |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Hyvin usein (80–99%) | 4 sairaudessa |
| ERCC5ERCC excision repair 5, endonuclease | Hyvin usein (80–99%) | 3 sairaudessa |
| FDXRferredoxin reductase | Hyvin usein (80–99%) | 2 sairaudessa |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Hyvin usein (80–99%) | 1 sairaudessa |
| FLVCR1FLVCR choline and heme transporter 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| FMR1fragile X messenger ribonucleoprotein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| FRMD5FERM domain containing 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| GBA2glucosylceramidase beta 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| GLRA1glycine receptor alpha 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GLRBglycine receptor beta | Hyvin usein (80–99%) | 1 sairaudessa |
| GPHNgephyrin | Hyvin usein (80–99%) | 1 sairaudessa |
| GTF2Igeneral transcription factor IIi | Hyvin usein (80–99%) | 1 sairaudessa |
| GTF2IRD1GTF2I repeat domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GTF2IRD2GTF2I repeat domain containing 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| HEXBhexosaminidase subunit beta | Hyvin usein (80–99%) | 2 sairaudessa |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT74intraflagellar transport 74 | Hyvin usein (80–99%) | 2 sairaudessa |
| KATNIPkatanin interacting protein | Hyvin usein (80–99%) | 1 sairaudessa |
| KCND3potassium voltage-gated channel subfamily D member 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| KIAA0586KIAA0586 | Hyvin usein (80–99%) | 1 sairaudessa |
| KIAA0753KIAA0753 | Hyvin usein (80–99%) | 2 sairaudessa |
| LAMA1laminin subunit alpha 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| LIMK1LIM domain kinase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LMNB1lamin B1 | Hyvin usein (80–99%) | 1 sairaudessa |
| METTL27methyltransferase like 27 | Hyvin usein (80–99%) | 1 sairaudessa |
| MMEmembrane metalloendopeptidase | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Hyvin usein (80–99%) | 5 sairaudessa |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Hyvin usein (80–99%) | 4 sairaudessa |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Hyvin usein (80–99%) | 5 sairaudessa |
| MT-RNR1mitochondrially encoded 12S rRNA | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Hyvin usein (80–99%) | 3 sairaudessa |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Hyvin usein (80–99%) | 3 sairaudessa |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Hyvin usein (80–99%) | 4 sairaudessa |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Hyvin usein (80–99%) | 5 sairaudessa |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Hyvin usein (80–99%) | 3 sairaudessa |
| MTRFRmitochondrial translation release factor in rescue | Hyvin usein (80–99%) | 2 sairaudessa |
| MYO5Amyosin VA | Hyvin usein (80–99%) | 2 sairaudessa |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| NAXENAD(P)HX epimerase | Hyvin usein (80–99%) | 2 sairaudessa |
| NCF1neutrophil cytosolic factor 1 | 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 |
| 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%) | 2 sairaudessa |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Hyvin usein (80–99%) | 3 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%) | 2 sairaudessa |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Hyvin usein (80–99%) | 2 sairaudessa |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NELFAnegative elongation factor complex member A | Hyvin usein (80–99%) | 1 sairaudessa |
| NEU1neuraminidase 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| NOP56NOP56 ribonucleoprotein | Hyvin usein (80–99%) | 2 sairaudessa |
| NOTCH2NLCnotch 2 N-terminal like C | Hyvin usein (80–99%) | 3 sairaudessa |
| NPHP1nephrocystin 1 | Hyvin usein (80–99%) | 4 sairaudessa |
| NSD2nuclear receptor binding SET domain protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| OFD1OFD1 centriole and centriolar satellite protein | Hyvin usein (80–99%) | 3 sairaudessa |
| OGDHoxoglutarate dehydrogenase | Hyvin usein (80–99%) | 1 sairaudessa |
| PAX6paired box 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Dphosphodiesterase 6D | Hyvin usein (80–99%) | 2 sairaudessa |
| PEX7peroxisomal biogenesis factor 7 | Hyvin usein (80–99%) | 3 sairaudessa |
| PGM3phosphoglucomutase 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| PHYHphytanoyl-CoA 2-hydroxylase | Hyvin usein (80–99%) | 2 sairaudessa |
| PIBF1progesterone immunomodulatory binding factor 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Hyvin usein (80–99%) | 2 sairaudessa |
| PMM2phosphomannomutase 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| PMPCApeptidase, mitochondrial processing subunit alpha | Hyvin usein (80–99%) | 2 sairaudessa |
| PNPLA6patatin like domain 6, lysophospholipase | Hyvin usein (80–99%) | 8 sairaudessa |
| POLR3ARNA polymerase III subunit A | Hyvin usein (80–99%) | 4 sairaudessa |
| PRNPprion protein (Kanno blood group) | Hyvin usein (80–99%) | 3 sairaudessa |
| PTENphosphatase and tensin homolog | Hyvin usein (80–99%) | 2 sairaudessa |
| RFC2replication factor C subunit 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SAMD9Lsterile alpha motif domain containing 9 like | Hyvin usein (80–99%) | 3 sairaudessa |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Hyvin usein (80–99%) | 5 sairaudessa |
| SETXsenataxin | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC1A3solute carrier family 1 member 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| SLC2A1solute carrier family 2 member 1 | Hyvin usein (80–99%) | 8 sairaudessa |
| SLC6A19solute carrier family 6 member 19 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC6A5solute carrier family 6 member 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| SNAP29synaptosome associated protein 29 | Hyvin usein (80–99%) | 1 sairaudessa |
| SNX14sorting nexin 14 | Hyvin usein (80–99%) | 2 sairaudessa |
| SOX10SRY-box transcription factor 10 | Hyvin usein (80–99%) | 3 sairaudessa |
| STX1Asyntaxin 1A | Hyvin usein (80–99%) | 1 sairaudessa |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Hyvin usein (80–99%) | 1 sairaudessa |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| TBL2transducin beta like 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| TBPTATA-box binding protein | Hyvin usein (80–99%) | 2 sairaudessa |
| TCF4transcription factor 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| TCTN1tectonic family member 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TCTN3tectonic family member 3 | 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%) | 1 sairaudessa |
| TMEM138transmembrane protein 138 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM216transmembrane protein 216 | Hyvin usein (80–99%) | 3 sairaudessa |
| TMEM218transmembrane protein 218 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM231transmembrane protein 231 | Hyvin usein (80–99%) | 2 sairaudessa |
| TMEM237transmembrane protein 237 | Hyvin usein (80–99%) | 4 sairaudessa |
| TMEM270transmembrane protein 270 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM67transmembrane protein 67 | Hyvin usein (80–99%) | 4 sairaudessa |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TUBB2Btubulin beta 2B class IIb | Hyvin usein (80–99%) | 2 sairaudessa |
| TWNKtwinkle mtDNA helicase | Hyvin usein (80–99%) | 5 sairaudessa |
| VLDLRvery low density lipoprotein receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| VPS13Dvacuolar protein sorting 13 homolog D | Hyvin usein (80–99%) | 1 sairaudessa |
| VPS37DVPS37D subunit of ESCRT-I | Hyvin usein (80–99%) | 1 sairaudessa |
| WDR73WD repeat domain 73 | Hyvin usein (80–99%) | 2 sairaudessa |
| WDR81WD repeat domain 81 | Hyvin usein (80–99%) | 2 sairaudessa |
| ZNF423zinc finger protein 423 | Hyvin usein (80–99%) | 1 sairaudessa |
| ZNF592zinc finger protein 592 | Hyvin usein (80–99%) | 1 sairaudessa |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Usein (30–79%) | 1 sairaudessa |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Usein (30–79%) | 2 sairaudessa |
| ADARadenosine deaminase RNA specific | Usein (30–79%) | 1 sairaudessa |
| AHDC1AT-hook DNA binding motif containing 1 | Usein (30–79%) | 2 sairaudessa |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Usein (30–79%) | 2 sairaudessa |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Usein (30–79%) | 2 sairaudessa |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Usein (30–79%) | 2 sairaudessa |
| AQP4aquaporin 4 | Usein (30–79%) | 1 sairaudessa |
| ASLargininosuccinate lyase | Usein (30–79%) | 2 sairaudessa |
| ATN1atrophin 1 | Usein (30–79%) | 2 sairaudessa |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Usein (30–79%) | 2 sairaudessa |
| ATP5F1AATP synthase F1 subunit alpha | Usein (30–79%) | 1 sairaudessa |
| ATP5F1DATP synthase F1 subunit delta | Usein (30–79%) | 1 sairaudessa |
| ATP5F1EATP synthase F1 subunit epsilon | Usein (30–79%) | 1 sairaudessa |
| ATP5MKATP synthase membrane subunit k | Usein (30–79%) | 2 sairaudessa |
| ATP5POATP synthase peripheral stalk subunit OSCP | Usein (30–79%) | 1 sairaudessa |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Usein (30–79%) | 1 sairaudessa |
| ATXN8ataxin 8 | Usein (30–79%) | 1 sairaudessa |
| ATXN8OSATXN8 opposite strand lncRNA | Usein (30–79%) | 1 sairaudessa |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Usein (30–79%) | 1 sairaudessa |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Usein (30–79%) | 2 sairaudessa |
| BTDbiotinidase | Usein (30–79%) | 2 sairaudessa |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Usein (30–79%) | 2 sairaudessa |
| CAMTA1calmodulin binding transcription activator 1 | Usein (30–79%) | 2 sairaudessa |
| CAPN1calpain 1 | Usein (30–79%) | 2 sairaudessa |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Usein (30–79%) | 1 sairaudessa |
| CDC42cell division cycle 42 | Usein (30–79%) | 1 sairaudessa |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Usein (30–79%) | 1 sairaudessa |
| CISD2CDGSH iron sulfur domain 2 | Usein (30–79%) | 1 sairaudessa |
| CLN6CLN6 transmembrane ER protein | Usein (30–79%) | 1 sairaudessa |
| CMPK2cytidine/uridine monophosphate kinase 2 | Usein (30–79%) | 1 sairaudessa |
| CNTNAP2contactin associated protein 2 | Usein (30–79%) | 2 sairaudessa |
| COA8cytochrome c oxidase assembly factor 8 | Usein (30–79%) | 2 sairaudessa |
| COG4component of oligomeric golgi complex 4 | Usein (30–79%) | 2 sairaudessa |
| COQ4coenzyme Q4 | Usein (30–79%) | 1 sairaudessa |
| COXFA4cytochrome c oxidase associated subunit FA4 | Usein (30–79%) | 1 sairaudessa |
| CPceruloplasmin | Usein (30–79%) | 2 sairaudessa |
| CSNK2A1casein kinase 2 alpha 1 | Usein (30–79%) | 1 sairaudessa |
| CSTBcystatin B | Usein (30–79%) | 2 sairaudessa |
| CTNNA2catenin alpha 2 | Usein (30–79%) | 1 sairaudessa |
| CTSFcathepsin F | Usein (30–79%) | 1 sairaudessa |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Usein (30–79%) | 2 sairaudessa |
| DARS1aspartyl-tRNA synthetase 1 | Usein (30–79%) | 1 sairaudessa |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Usein (30–79%) | 2 sairaudessa |
| DHX30DExH-box helicase 30 | Usein (30–79%) | 1 sairaudessa |
| DLATdihydrolipoamide S-acetyltransferase | Usein (30–79%) | 1 sairaudessa |
| DPYSL5dihydropyrimidinase like 5 | Usein (30–79%) | 1 sairaudessa |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Usein (30–79%) | 2 sairaudessa |
| EBF3EBF transcription factor 3 | Usein (30–79%) | 2 sairaudessa |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Usein (30–79%) | 2 sairaudessa |
| ELP1elongator acetyltransferase complex subunit 1 | Usein (30–79%) | 1 sairaudessa |
| EPM2AEPM2A glucan phosphatase, laforin | Usein (30–79%) | 1 sairaudessa |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Usein (30–79%) | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Usein (30–79%) | 4 sairaudessa |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Usein (30–79%) | 3 sairaudessa |
| ETHE1ETHE1 persulfide dioxygenase | Usein (30–79%) | 2 sairaudessa |
| FAM149B1family with sequence similarity 149 member B1 | Usein (30–79%) | 1 sairaudessa |
| FGF12fibroblast growth factor 12 | Usein (30–79%) | 2 sairaudessa |
| FRMPD4FERM and PDZ domain containing 4 | Usein (30–79%) | 1 sairaudessa |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Usein (30–79%) | 2 sairaudessa |
| GALCgalactosylceramidase | Usein (30–79%) | 2 sairaudessa |
| GAMTguanidinoacetate N-methyltransferase | Usein (30–79%) | 2 sairaudessa |
| GBA1glucosylceramidase beta 1 | Usein (30–79%) | 2 sairaudessa |
| GCH1GTP cyclohydrolase 1 | Usein (30–79%) | 1 sairaudessa |
| GEMIN5gem nuclear organelle associated protein 5 | Usein (30–79%) | 1 sairaudessa |
| GJA1gap junction protein alpha 1 | Usein (30–79%) | 2 sairaudessa |
| GLB1galactosidase beta 1 | Usein (30–79%) | 3 sairaudessa |
| GPRC5BG protein-coupled receptor class C group 5 member B | Usein (30–79%) | 1 sairaudessa |
| GSNgelsolin | Usein (30–79%) | 1 sairaudessa |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Usein (30–79%) | 3 sairaudessa |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Usein (30–79%) | 3 sairaudessa |
| HEPACAMhepatic and glial cell adhesion molecule | Usein (30–79%) | 3 sairaudessa |
| HK1hexokinase 1 | Usein (30–79%) | 1 sairaudessa |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Usein (30–79%) | 1 sairaudessa |
| HTThuntingtin | Usein (30–79%) | 1 sairaudessa |
| IMPDH2inosine monophosphate dehydrogenase 2 | Usein (30–79%) | 1 sairaudessa |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Usein (30–79%) | 1 sairaudessa |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Usein (30–79%) | 1 sairaudessa |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Usein (30–79%) | 1 sairaudessa |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Usein (30–79%) | 1 sairaudessa |
| KIF1Akinesin family member 1A | Usein (30–79%) | 3 sairaudessa |
| KIF7kinesin family member 7 | Usein (30–79%) | 1 sairaudessa |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Usein (30–79%) | 1 sairaudessa |
| LITAFlipopolysaccharide induced TNF factor | Usein (30–79%) | 1 sairaudessa |
| LRPPRCleucine rich pentatricopeptide repeat containing | Usein (30–79%) | 2 sairaudessa |
| MAN2B1mannosidase alpha class 2B member 1 | Usein (30–79%) | 2 sairaudessa |
| MCOLN1mucolipin TRP cation channel 1 | Usein (30–79%) | 1 sairaudessa |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Usein (30–79%) | 1 sairaudessa |
| MLC1modulator of VRAC current 1 | Usein (30–79%) | 2 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Usein (30–79%) | 7 sairaudessa |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Usein (30–79%) | 2 sairaudessa |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Usein (30–79%) | 2 sairaudessa |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Usein (30–79%) | 1 sairaudessa |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Usein (30–79%) | 3 sairaudessa |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Usein (30–79%) | 4 sairaudessa |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Usein (30–79%) | 4 sairaudessa |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Usein (30–79%) | 1 sairaudessa |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Usein (30–79%) | 1 sairaudessa |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Usein (30–79%) | 2 sairaudessa |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Usein (30–79%) | 2 sairaudessa |
| MTHFRmethylenetetrahydrofolate reductase | Usein (30–79%) | 1 sairaudessa |
| MYORGmyogenesis regulating glycosidase | Usein (30–79%) | 1 sairaudessa |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Usein (30–79%) | 1 sairaudessa |
| NEMFnuclear export mediator factor | Usein (30–79%) | 1 sairaudessa |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Usein (30–79%) | 1 sairaudessa |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| NOL3nucleolar protein 3 | Usein (30–79%) | 1 sairaudessa |
| NOTCH3notch receptor 3 | Usein (30–79%) | 1 sairaudessa |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Usein (30–79%) | 1 sairaudessa |
| NUP62nucleoporin 62 | Usein (30–79%) | 1 sairaudessa |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Usein (30–79%) | 3 sairaudessa |
| OPHN1oligophrenin 1 | Usein (30–79%) | 1 sairaudessa |
| PDE2Aphosphodiesterase 2A | Usein (30–79%) | 1 sairaudessa |
| PEX1peroxisomal biogenesis factor 1 | Usein (30–79%) | 1 sairaudessa |
| PEX11Bperoxisomal biogenesis factor 11 beta | Usein (30–79%) | 1 sairaudessa |
| PEX13peroxisomal biogenesis factor 13 | Usein (30–79%) | 1 sairaudessa |
| PEX14peroxisomal biogenesis factor 14 | Usein (30–79%) | 1 sairaudessa |
| PEX16peroxisomal biogenesis factor 16 | Usein (30–79%) | 2 sairaudessa |
| PEX19peroxisomal biogenesis factor 19 | Usein (30–79%) | 1 sairaudessa |
| PEX2peroxisomal biogenesis factor 2 | Usein (30–79%) | 2 sairaudessa |
| PEX26peroxisomal biogenesis factor 26 | Usein (30–79%) | 1 sairaudessa |
| PEX3peroxisomal biogenesis factor 3 | Usein (30–79%) | 1 sairaudessa |
| PEX5peroxisomal biogenesis factor 5 | Usein (30–79%) | 1 sairaudessa |
| PEX6peroxisomal biogenesis factor 6 | Usein (30–79%) | 2 sairaudessa |
| PGBD5piggyBac transposable element derived 5 | Usein (30–79%) | 1 sairaudessa |
| PGK1phosphoglycerate kinase 1 | Usein (30–79%) | 2 sairaudessa |
| PGM2L1phosphoglucomutase 2 like 1 | Usein (30–79%) | 1 sairaudessa |
| PI4KAphosphatidylinositol 4-kinase alpha | Usein (30–79%) | 1 sairaudessa |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Usein (30–79%) | 1 sairaudessa |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Usein (30–79%) | 1 sairaudessa |
| PITRM1pitrilysin metallopeptidase 1 | Usein (30–79%) | 1 sairaudessa |
| PLA2G6phospholipase A2 group VI | Usein (30–79%) | 2 sairaudessa |
| PLEKHG4pleckstrin homology and RhoGEF domain containing G4 | Usein (30–79%) | 1 sairaudessa |
| POU3F4POU class 3 homeobox 4 | Usein (30–79%) | 1 sairaudessa |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Usein (30–79%) | 1 sairaudessa |
| PRICKLE1prickle planar cell polarity protein 1 | Usein (30–79%) | 2 sairaudessa |
| PRODHproline dehydrogenase 1 | Usein (30–79%) | 1 sairaudessa |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Usein (30–79%) | 5 sairaudessa |
| PUM1pumilio RNA binding family member 1 | Usein (30–79%) | 1 sairaudessa |
| RARS1arginyl-tRNA synthetase 1 | Usein (30–79%) | 2 sairaudessa |
| RFXAPregulatory factor X associated protein | Usein (30–79%) | 1 sairaudessa |
| RHOBTB2Rho related BTB domain containing 2 | Usein (30–79%) | 1 sairaudessa |
| RIMS2regulating synaptic membrane exocytosis 2 | Usein (30–79%) | 1 sairaudessa |
| RIPK4receptor interacting serine/threonine kinase 4 | Usein (30–79%) | 1 sairaudessa |
| RNU2-2RNA, U2 small nuclear 2 | Usein (30–79%) | 1 sairaudessa |
| RORARAR related orphan receptor A | Usein (30–79%) | 1 sairaudessa |
| RPL10ribosomal protein L10 | Usein (30–79%) | 2 sairaudessa |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Usein (30–79%) | 3 sairaudessa |
| RTN4IP1reticulon 4 interacting protein 1 | Usein (30–79%) | 1 sairaudessa |
| SCARB2scavenger receptor class B member 2 | Usein (30–79%) | 1 sairaudessa |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Usein (30–79%) | 2 sairaudessa |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Usein (30–79%) | 3 sairaudessa |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Usein (30–79%) | 2 sairaudessa |
| SKOR2SKI family transcriptional corepressor 2 | Usein (30–79%) | 1 sairaudessa |
| SLC16A2solute carrier family 16 member 2 | Usein (30–79%) | 2 sairaudessa |
| SLC19A3solute carrier family 19 member 3 | Usein (30–79%) | 1 sairaudessa |
| SLC25A46solute carrier family 25 member 46 | Usein (30–79%) | 2 sairaudessa |
| SLC6A8solute carrier family 6 member 8 | Usein (30–79%) | 1 sairaudessa |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Usein (30–79%) | 2 sairaudessa |
| SMPD1sphingomyelin phosphodiesterase 1 | Usein (30–79%) | 2 sairaudessa |
| SNORD118small nucleolar RNA, C/D box 118 | Usein (30–79%) | 2 sairaudessa |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Usein (30–79%) | 3 sairaudessa |
| SPRsepiapterin reductase | Usein (30–79%) | 1 sairaudessa |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Usein (30–79%) | 2 sairaudessa |
| SRD5A3steroid 5 alpha-reductase 3 | Usein (30–79%) | 1 sairaudessa |
| SRPK3SRSF protein kinase 3 | Usein (30–79%) | 1 sairaudessa |
| STN1STN1 subunit of CST complex | Usein (30–79%) | 1 sairaudessa |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Usein (30–79%) | 3 sairaudessa |
| TBCDtubulin folding cofactor D | Usein (30–79%) | 2 sairaudessa |
| TBCEtubulin folding cofactor E | Usein (30–79%) | 1 sairaudessa |
| TCF20transcription factor 20 | Usein (30–79%) | 1 sairaudessa |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Usein (30–79%) | 2 sairaudessa |
| THtyrosine hydroxylase | Usein (30–79%) | 1 sairaudessa |
| TMEM63Atransmembrane protein 63A | Usein (30–79%) | 1 sairaudessa |
| TOE1target of EGR1, exonuclease | Usein (30–79%) | 1 sairaudessa |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Usein (30–79%) | 1 sairaudessa |
| TPRKBTP53RK binding protein | Usein (30–79%) | 1 sairaudessa |
| TRIM8tripartite motif containing 8 | Usein (30–79%) | 1 sairaudessa |
| TRNT1tRNA nucleotidyl transferase 1 | Usein (30–79%) | 1 sairaudessa |
| TSPOAP1TSPO associated protein 1 | Usein (30–79%) | 1 sairaudessa |
| TTRtransthyretin | Usein (30–79%) | 1 sairaudessa |
| TUBA4Atubulin alpha 4a | Usein (30–79%) | 1 sairaudessa |
| TUBBtubulin beta class I | Usein (30–79%) | 1 sairaudessa |
| TUBB4Atubulin beta 4A class IVa | Usein (30–79%) | 1 sairaudessa |
| UBE3Cubiquitin protein ligase E3C | Usein (30–79%) | 1 sairaudessa |
| UBTFupstream binding transcription factor | Usein (30–79%) | 1 sairaudessa |
| VPS4Avacuolar protein sorting 4 homolog A | Usein (30–79%) | 1 sairaudessa |
| WFS1wolframin ER transmembrane glycoprotein | Usein (30–79%) | 2 sairaudessa |
| YME1L1YME1 like 1 ATPase | Usein (30–79%) | 1 sairaudessa |
| ZBTB20zinc finger and BTB domain containing 20 | Usein (30–79%) | 1 sairaudessa |
| ZNF142zinc finger protein 142 | Usein (30–79%) | 1 sairaudessa |
| ZSWIM6zinc finger SWIM-type containing 6 | Usein (30–79%) | 1 sairaudessa |
| AAASaladin WD repeat nucleoporin | Joskus (5–29%) | 2 sairaudessa |
| AARS1alanyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| ABCA5ATP binding cassette subfamily A member 5 | Joskus (5–29%) | 1 sairaudessa |
| ABCC8ATP binding cassette subfamily C member 8 | Joskus (5–29%) | 2 sairaudessa |
| ABCD1ATP binding cassette subfamily D member 1 | Joskus (5–29%) | 1 sairaudessa |
| ACADMacyl-CoA dehydrogenase medium chain | Joskus (5–29%) | 1 sairaudessa |
| ACADSacyl-CoA dehydrogenase short chain | Joskus (5–29%) | 1 sairaudessa |
| ACAT1acetyl-CoA acetyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Joskus (5–29%) | 1 sairaudessa |
| ACTL6Bactin like 6B | Joskus (5–29%) | 1 sairaudessa |
| ADGRV1adhesion G protein-coupled receptor V1 | Joskus (5–29%) | 1 sairaudessa |
| AKT1AKT serine/threonine kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Joskus (5–29%) | 1 sairaudessa |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Joskus (5–29%) | 1 sairaudessa |
| AMACRalpha-methylacyl-CoA racemase | Joskus (5–29%) | 2 sairaudessa |
| ANK1ankyrin 1 | Joskus (5–29%) | 1 sairaudessa |
| ANOS1anosmin 1 | Joskus (5–29%) | 2 sairaudessa |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Joskus (5–29%) | 1 sairaudessa |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Joskus (5–29%) | 1 sairaudessa |
| APPamyloid beta precursor protein | Joskus (5–29%) | 1 sairaudessa |
| ARCN1archain 1 coat protein complex I subunit delta | Joskus (5–29%) | 1 sairaudessa |
| ARL6ARF like GTPase 6 | Joskus (5–29%) | 2 sairaudessa |
| ATP10AATPase phospholipid transporting 10A (putative) | Joskus (5–29%) | 1 sairaudessa |
| ATP6V1AATPase H+ transporting V1 subunit A | Joskus (5–29%) | 1 sairaudessa |
| BAP1BRCA1 associated deubiquitinase 1 | Joskus (5–29%) | 1 sairaudessa |
| BBIP1BBSome interacting protein 1 | Joskus (5–29%) | 1 sairaudessa |
| BBS1Bardet-Biedl syndrome 1 | Joskus (5–29%) | 2 sairaudessa |
| BBS10Bardet-Biedl syndrome 10 | Joskus (5–29%) | 1 sairaudessa |
| BBS12Bardet-Biedl syndrome 12 | Joskus (5–29%) | 1 sairaudessa |
| BBS2Bardet-Biedl syndrome 2 | Joskus (5–29%) | 1 sairaudessa |
| BBS4Bardet-Biedl syndrome 4 | Joskus (5–29%) | 1 sairaudessa |
| BBS5Bardet-Biedl syndrome 5 | Joskus (5–29%) | 1 sairaudessa |
| BBS7Bardet-Biedl syndrome 7 | Joskus (5–29%) | 1 sairaudessa |
| BBS9Bardet-Biedl syndrome 9 | Joskus (5–29%) | 1 sairaudessa |
| BCKDKbranched chain keto acid dehydrogenase kinase | Joskus (5–29%) | 1 sairaudessa |
| BOLA3bolA family member 3 | Joskus (5–29%) | 1 sairaudessa |
| C4Acomplement C4A (Chido/Rodgers blood group) | Joskus (5–29%) | 1 sairaudessa |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Joskus (5–29%) | 1 sairaudessa |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Joskus (5–29%) | 1 sairaudessa |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Joskus (5–29%) | 1 sairaudessa |
| CCDC141coiled-coil domain containing 141 | Joskus (5–29%) | 1 sairaudessa |
| CCR1C-C motif chemokine receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| CD4CD4 molecule | Joskus (5–29%) | 1 sairaudessa |
| CDK19cyclin dependent kinase 19 | Joskus (5–29%) | 1 sairaudessa |
| CELF2CUGBP Elav-like family member 2 | Joskus (5–29%) | 1 sairaudessa |
| CEP164centrosomal protein 164 | Joskus (5–29%) | 1 sairaudessa |
| CEP19centrosomal protein 19 | Joskus (5–29%) | 1 sairaudessa |
| CFAP418cilia and flagella associated protein 418 | Joskus (5–29%) | 1 sairaudessa |
| CHD2chromodomain helicase DNA binding protein 2 | Joskus (5–29%) | 1 sairaudessa |
| CHD7chromodomain helicase DNA binding protein 7 | Joskus (5–29%) | 1 sairaudessa |
| CLPBClpB family mitochondrial disaggregase | Joskus (5–29%) | 1 sairaudessa |
| CLTCclathrin heavy chain | Joskus (5–29%) | 2 sairaudessa |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Joskus (5–29%) | 1 sairaudessa |
| CPA6carboxypeptidase A6 | Joskus (5–29%) | 1 sairaudessa |
| CRELD1CRELD disulfide isomerase 1 | Joskus (5–29%) | 1 sairaudessa |
| CTDP1CTD phosphatase 1 | Joskus (5–29%) | 2 sairaudessa |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Joskus (5–29%) | 1 sairaudessa |
| DALRD3DALR anticodon binding domain containing 3 | Joskus (5–29%) | 1 sairaudessa |
| DCCDCC netrin 1 receptor | Joskus (5–29%) | 1 sairaudessa |
| DCHS1dachsous cadherin-related 1 | Joskus (5–29%) | 1 sairaudessa |
| DDB2damage specific DNA binding protein 2 | Joskus (5–29%) | 1 sairaudessa |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Joskus (5–29%) | 1 sairaudessa |
| DGUOKdeoxyguanosine kinase | Joskus (5–29%) | 1 sairaudessa |
| DHX9DExH-box helicase 9 | Joskus (5–29%) | 1 sairaudessa |
| DKC1dyskerin pseudouridine synthase 1 | Joskus (5–29%) | 2 sairaudessa |
| DLDdihydrolipoamide dehydrogenase | Joskus (5–29%) | 2 sairaudessa |
| DLL1delta like canonical Notch ligand 1 | Joskus (5–29%) | 1 sairaudessa |
| DNASE1L3deoxyribonuclease 1L3 | Joskus (5–29%) | 1 sairaudessa |
| DNM1dynamin 1 | Joskus (5–29%) | 1 sairaudessa |
| DNM1Ldynamin 1L | Joskus (5–29%) | 1 sairaudessa |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Joskus (5–29%) | 2 sairaudessa |
| DUSP6dual specificity phosphatase 6 | Joskus (5–29%) | 1 sairaudessa |
| EMX2empty spiracles homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| EPB42erythrocyte membrane protein band 4.2 | Joskus (5–29%) | 1 sairaudessa |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Joskus (5–29%) | 1 sairaudessa |
| ERLIN1ER lipid raft associated 1 | Joskus (5–29%) | 1 sairaudessa |
| FASFas cell surface death receptor | Joskus (5–29%) | 1 sairaudessa |
| FAT4FAT atypical cadherin 4 | Joskus (5–29%) | 1 sairaudessa |
| FBXL4F-box and leucine rich repeat protein 4 | Joskus (5–29%) | 1 sairaudessa |
| FBXO22F-box protein 22 | Joskus (5–29%) | 1 sairaudessa |
| FBXO28F-box protein 28 | Joskus (5–29%) | 1 sairaudessa |
| FBXW7F-box and WD repeat domain containing 7 | Joskus (5–29%) | 1 sairaudessa |
| FEZF1FEZ family zinc finger 1 | Joskus (5–29%) | 1 sairaudessa |
| FGF13fibroblast growth factor 13 | 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 |
| FOXG1forkhead box G1 | Joskus (5–29%) | 1 sairaudessa |
| FOXI1forkhead box I1 | Joskus (5–29%) | 1 sairaudessa |
| FUSFUS RNA binding protein | Joskus (5–29%) | 1 sairaudessa |
| FZR1fizzy and cell division cycle 20 related 1 | Joskus (5–29%) | 1 sairaudessa |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Joskus (5–29%) | 1 sairaudessa |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Joskus (5–29%) | 1 sairaudessa |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Joskus (5–29%) | 2 sairaudessa |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Joskus (5–29%) | 1 sairaudessa |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Joskus (5–29%) | 2 sairaudessa |
| GALTgalactose-1-phosphate uridylyltransferase | Joskus (5–29%) | 1 sairaudessa |
| GBE11,4-alpha-glucan branching enzyme 1 | Joskus (5–29%) | 1 sairaudessa |
| GCDHglutaryl-CoA dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| GCKglucokinase | Joskus (5–29%) | 1 sairaudessa |
| GCLCglutamate-cysteine ligase catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| GGT1gamma-glutamyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| GJB1gap junction protein beta 1 | Joskus (5–29%) | 1 sairaudessa |
| GLRX5glutaredoxin 5 | Joskus (5–29%) | 1 sairaudessa |
| GMPPAGDP-mannose pyrophosphorylase A | Joskus (5–29%) | 2 sairaudessa |
| GMPPBGDP-mannose pyrophosphorylase B | Joskus (5–29%) | 1 sairaudessa |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Joskus (5–29%) | 1 sairaudessa |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Joskus (5–29%) | 1 sairaudessa |
| H4C5H4 clustered histone 5 | Joskus (5–29%) | 1 sairaudessa |
| HESX1HESX homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| HIC1HIC ZBTB transcriptional repressor 1 | Joskus (5–29%) | 1 sairaudessa |
| HIKESHIheat shock protein nuclear import factor hikeshi | Joskus (5–29%) | 1 sairaudessa |
| HIVEP2HIVEP zinc finger 2 | Joskus (5–29%) | 1 sairaudessa |
| HLA-Bmajor histocompatibility complex, class I, B | Joskus (5–29%) | 2 sairaudessa |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Joskus (5–29%) | 1 sairaudessa |
| HLCSholocarboxylase synthetase | Joskus (5–29%) | 1 sairaudessa |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Joskus (5–29%) | 1 sairaudessa |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Joskus (5–29%) | 1 sairaudessa |
| HPD4-hydroxyphenylpyruvate dioxygenase | Joskus (5–29%) | 1 sairaudessa |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| IFNGR1interferon gamma receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| IFT172intraflagellar transport 172 | Joskus (5–29%) | 1 sairaudessa |
| IFT27intraflagellar transport 27 | Joskus (5–29%) | 1 sairaudessa |
| IFT54intraflagellar transport 54 | Joskus (5–29%) | 1 sairaudessa |
| IL10interleukin 10 | Joskus (5–29%) | 1 sairaudessa |
| IL12Ainterleukin 12A | Joskus (5–29%) | 1 sairaudessa |
| IL12A-AS1IL12A antisense RNA 1 | Joskus (5–29%) | 1 sairaudessa |
| IL17RDinterleukin 17 receptor D | Joskus (5–29%) | 1 sairaudessa |
| IL23Rinterleukin 23 receptor | Joskus (5–29%) | 1 sairaudessa |
| INSinsulin | Joskus (5–29%) | 1 sairaudessa |
| INVSinversin | Joskus (5–29%) | 1 sairaudessa |
| IQCB1IQ motif containing B1 | Joskus (5–29%) | 1 sairaudessa |
| IRF4interferon regulatory factor 4 | Joskus (5–29%) | 1 sairaudessa |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Joskus (5–29%) | 1 sairaudessa |
| KCNC1potassium voltage-gated channel subfamily C member 1 | Joskus (5–29%) | 1 sairaudessa |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Joskus (5–29%) | 2 sairaudessa |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Joskus (5–29%) | 1 sairaudessa |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Joskus (5–29%) | 1 sairaudessa |
| KDM4Blysine demethylase 4B | Joskus (5–29%) | 1 sairaudessa |
| KDM5Alysine demethylase 5A | Joskus (5–29%) | 1 sairaudessa |
| KIF5Akinesin family member 5A | Joskus (5–29%) | 1 sairaudessa |
| KITKIT proto-oncogene, receptor tyrosine kinase | Joskus (5–29%) | 1 sairaudessa |
| KLRC4killer cell lectin like receptor C4 | Joskus (5–29%) | 1 sairaudessa |
| L1CAML1 cell adhesion molecule | Joskus (5–29%) | 1 sairaudessa |
| LGI3leucine rich repeat LGI family member 3 | Joskus (5–29%) | 1 sairaudessa |
| LONP1lon peptidase 1, mitochondrial | Joskus (5–29%) | 2 sairaudessa |
| LRP12LDL receptor related protein 12 | Joskus (5–29%) | 1 sairaudessa |
| LYRM7LYR motif containing 7 | Joskus (5–29%) | 1 sairaudessa |
| LYSTlysosomal trafficking regulator | Joskus (5–29%) | 2 sairaudessa |
| LZTFL1leucine zipper transcription factor like 1 | Joskus (5–29%) | 1 sairaudessa |
| MAN1B1mannosidase alpha class 1B member 1 | Joskus (5–29%) | 1 sairaudessa |
| MAP2K1mitogen-activated protein kinase kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Joskus (5–29%) | 1 sairaudessa |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Joskus (5–29%) | 2 sairaudessa |
| MED13Lmediator complex subunit 13L | Joskus (5–29%) | 2 sairaudessa |
| MEFVMEFV innate immunity regulator, pyrin | Joskus (5–29%) | 1 sairaudessa |
| MKKSMKKS centrosomal shuttling protein | Joskus (5–29%) | 1 sairaudessa |
| MMACHCmetabolism of cobalamin associated C | Joskus (5–29%) | 1 sairaudessa |
| MORC2MORC family CW-type zinc finger 2 | Joskus (5–29%) | 1 sairaudessa |
| MT-CYBmitochondrially encoded cytochrome b | Joskus (5–29%) | 2 sairaudessa |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Joskus (5–29%) | 2 sairaudessa |
| MTO1mitochondrial tRNA translation optimization 1 | Joskus (5–29%) | 1 sairaudessa |
| MTTPmicrosomal triglyceride transfer protein | Joskus (5–29%) | 2 sairaudessa |
| MYD88MYD88 innate immune signal transduction adaptor | Joskus (5–29%) | 1 sairaudessa |
| NALCNsodium leak channel, non-selective | Joskus (5–29%) | 1 sairaudessa |
| NAXDNAD(P)HX dehydratase | Joskus (5–29%) | 2 sairaudessa |
| NDNFneuron derived neurotrophic factor | Joskus (5–29%) | 1 sairaudessa |
| NDST1N-deacetylase and N-sulfotransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| NECAP1NECAP endocytosis associated 1 | Joskus (5–29%) | 1 sairaudessa |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Joskus (5–29%) | 1 sairaudessa |
| NEXMIFneurite extension and migration factor | Joskus (5–29%) | 2 sairaudessa |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Joskus (5–29%) | 2 sairaudessa |
| NIPA1NIPA magnesium transporter 1 | Joskus (5–29%) | 1 sairaudessa |
| NIPA2NIPA magnesium transporter 2 | Joskus (5–29%) | 1 sairaudessa |
| NPHP3nephrocystin 3 | Joskus (5–29%) | 1 sairaudessa |
| NPHP4nephrocystin 4 | Joskus (5–29%) | 1 sairaudessa |
| NRASNRAS proto-oncogene, GTPase | Joskus (5–29%) | 1 sairaudessa |
| NRCAMneuronal cell adhesion molecule | Joskus (5–29%) | 1 sairaudessa |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Joskus (5–29%) | 1 sairaudessa |
| OCA2OCA2 melanosomal transmembrane protein | Joskus (5–29%) | 1 sairaudessa |
| OTUD6BOTU deubiquitinase 6B | Joskus (5–29%) | 1 sairaudessa |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Joskus (5–29%) | 1 sairaudessa |
| PACS2phosphofurin acidic cluster sorting protein 2 | Joskus (5–29%) | 1 sairaudessa |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| PARNpoly(A)-specific ribonuclease | Joskus (5–29%) | 2 sairaudessa |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| PDGFBplatelet derived growth factor subunit B | Joskus (5–29%) | 1 sairaudessa |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Joskus (5–29%) | 1 sairaudessa |
| PDHBpyruvate dehydrogenase E1 subunit beta | Joskus (5–29%) | 1 sairaudessa |
| PDX1pancreatic and duodenal homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| PGAP2post-GPI attachment to proteins 2 | Joskus (5–29%) | 1 sairaudessa |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Joskus (5–29%) | 1 sairaudessa |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Joskus (5–29%) | 1 sairaudessa |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Joskus (5–29%) | 1 sairaudessa |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Joskus (5–29%) | 1 sairaudessa |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Joskus (5–29%) | 1 sairaudessa |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Joskus (5–29%) | 1 sairaudessa |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Joskus (5–29%) | 1 sairaudessa |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| PMPCBpeptidase, mitochondrial processing subunit beta | Joskus (5–29%) | 1 sairaudessa |
| PPIBpeptidylprolyl isomerase B | Joskus (5–29%) | 1 sairaudessa |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Joskus (5–29%) | 1 sairaudessa |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| PRDM8PR/SET domain 8 | Joskus (5–29%) | 2 sairaudessa |
| PROK2prokineticin 2 | Joskus (5–29%) | 1 sairaudessa |
| PROKR2prokineticin receptor 2 | Joskus (5–29%) | 1 sairaudessa |
| PRRT2proline rich transmembrane protein 2 | Joskus (5–29%) | 2 sairaudessa |
| PSAPprosaposin | Joskus (5–29%) | 1 sairaudessa |
| PSEN1presenilin 1 | Joskus (5–29%) | 1 sairaudessa |
| PSEN2presenilin 2 | Joskus (5–29%) | 1 sairaudessa |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Joskus (5–29%) | 1 sairaudessa |
| PTS6-pyruvoyltetrahydropterin synthase | Joskus (5–29%) | 2 sairaudessa |
| PURApurine rich element binding protein A | Joskus (5–29%) | 1 sairaudessa |
| PYCR2pyrroline-5-carboxylate reductase 2 | Joskus (5–29%) | 1 sairaudessa |
| RFC4replication factor C subunit 4 | Joskus (5–29%) | 1 sairaudessa |
| RFT1RFT1 glycolipid translocator homolog | Joskus (5–29%) | 2 sairaudessa |
| RNASET2ribonuclease T2 | Joskus (5–29%) | 1 sairaudessa |
| RNF168ring finger protein 168 | Joskus (5–29%) | 2 sairaudessa |
| RNU5B-1RNA, U5B small nuclear 1 | Joskus (5–29%) | 1 sairaudessa |
| RRM1ribonucleotide reductase catalytic subunit M1 | Joskus (5–29%) | 1 sairaudessa |
| RRP12ribosomal RNA processing 12 homolog | Joskus (5–29%) | 1 sairaudessa |
| RTEL1regulator of telomere elongation helicase 1 | Joskus (5–29%) | 1 sairaudessa |
| RYR1ryanodine receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| SARDHsarcosine dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| SATB1SATB homeobox 1 | Joskus (5–29%) | 2 sairaudessa |
| SCAPERS-phase cyclin A associated protein in the ER | Joskus (5–29%) | 1 sairaudessa |
| SCLT1sodium channel and clathrin linker 1 | Joskus (5–29%) | 1 sairaudessa |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Joskus (5–29%) | 1 sairaudessa |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Joskus (5–29%) | 2 sairaudessa |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Joskus (5–29%) | 1 sairaudessa |
| SEMA3Asemaphorin 3A | Joskus (5–29%) | 1 sairaudessa |
| SGPL1sphingosine-1-phosphate lyase 1 | Joskus (5–29%) | 1 sairaudessa |
| SIGMAR1sigma receptor chaperone 1 | Joskus (5–29%) | 1 sairaudessa |
| SLC13A5solute carrier family 13 member 5 | Joskus (5–29%) | 2 sairaudessa |
| SLC19A2solute carrier family 19 member 2 | Joskus (5–29%) | 1 sairaudessa |
| SLC1A2solute carrier family 1 member 2 | Joskus (5–29%) | 1 sairaudessa |
| SLC25A4solute carrier family 25 member 4 | Joskus (5–29%) | 1 sairaudessa |
| SLC26A4solute carrier family 26 member 4 | Joskus (5–29%) | 1 sairaudessa |
| SLC32A1solute carrier family 32 member 1 | Joskus (5–29%) | 1 sairaudessa |
| SLC35C1solute carrier family 35 member C1 | Joskus (5–29%) | 1 sairaudessa |
| SLC38A3solute carrier family 38 member 3 | Joskus (5–29%) | 1 sairaudessa |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Joskus (5–29%) | 1 sairaudessa |
| SLC52A3solute carrier family 52 member 3 | Joskus (5–29%) | 1 sairaudessa |
| SLC6A1solute carrier family 6 member 1 | Joskus (5–29%) | 3 sairaudessa |
| SLC6A11solute carrier family 6 member 11 | Joskus (5–29%) | 1 sairaudessa |
| SMAD4SMAD family member 4 | Joskus (5–29%) | 1 sairaudessa |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Joskus (5–29%) | 1 sairaudessa |
| SMOsmoothened, frizzled class receptor | Joskus (5–29%) | 1 sairaudessa |
| SNAI2snail family transcriptional repressor 2 | Joskus (5–29%) | 1 sairaudessa |
| SNF8SNF8 subunit of ESCRT-II | Joskus (5–29%) | 1 sairaudessa |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Joskus (5–29%) | 1 sairaudessa |
| SORDsorbitol dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| SORL1sortilin related receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| SPENspen family transcriptional repressor | Joskus (5–29%) | 1 sairaudessa |
| SPRY4sprouty RTK signaling antagonist 4 | Joskus (5–29%) | 1 sairaudessa |
| SPTA1spectrin alpha, erythrocytic 1 | Joskus (5–29%) | 1 sairaudessa |
| SPTBspectrin beta, erythrocytic | Joskus (5–29%) | 1 sairaudessa |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| STAT3signal transducer and activator of transcription 3 | Joskus (5–29%) | 1 sairaudessa |
| STAT4signal transducer and activator of transcription 4 | Joskus (5–29%) | 1 sairaudessa |
| STX1Bsyntaxin 1B | Joskus (5–29%) | 1 sairaudessa |
| STXBP1syntaxin binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| SYNJ1synaptojanin 1 | Joskus (5–29%) | 1 sairaudessa |
| SYT1synaptotagmin 1 | Joskus (5–29%) | 2 sairaudessa |
| SZT2SZT2 subunit of KICSTOR complex | Joskus (5–29%) | 1 sairaudessa |
| TACR3tachykinin receptor 3 | Joskus (5–29%) | 1 sairaudessa |
| TAF1TATA-box binding protein associated factor 1 | Joskus (5–29%) | 1 sairaudessa |
| TARDBPTAR DNA binding protein | Joskus (5–29%) | 1 sairaudessa |
| TATtyrosine aminotransferase | Joskus (5–29%) | 1 sairaudessa |
| TBC1D24TBC1 domain family member 24 | Joskus (5–29%) | 2 sairaudessa |
| TELO2telomere maintenance 2 | Joskus (5–29%) | 2 sairaudessa |
| TERCtelomerase RNA component | Joskus (5–29%) | 2 sairaudessa |
| TERTtelomerase reverse transcriptase | Joskus (5–29%) | 3 sairaudessa |
| TGFB1transforming growth factor beta 1 | Joskus (5–29%) | 1 sairaudessa |
| TINF2TERF1 interacting nuclear factor 2 | Joskus (5–29%) | 5 sairaudessa |
| TK2thymidine kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| TLR4toll like receptor 4 | Joskus (5–29%) | 1 sairaudessa |
| TOMM40translocase of outer mitochondrial membrane 40 | Joskus (5–29%) | 1 sairaudessa |
| TRAF7TNF receptor associated factor 7 | Joskus (5–29%) | 1 sairaudessa |
| TRAK1trafficking kinesin protein 1 | Joskus (5–29%) | 1 sairaudessa |
| TRAPPC11trafficking protein particle complex subunit 11 | Joskus (5–29%) | 2 sairaudessa |
| TREM2triggering receptor expressed on myeloid cells 2 | Joskus (5–29%) | 1 sairaudessa |
| TRIM32tripartite motif containing 32 | Joskus (5–29%) | 1 sairaudessa |
| TRMT2BtRNA methyltransferase 2B | Joskus (5–29%) | 1 sairaudessa |
| TTC19tetratricopeptide repeat domain 19 | Joskus (5–29%) | 1 sairaudessa |
| TTC8tetratricopeptide repeat domain 8 | Joskus (5–29%) | 1 sairaudessa |
| TUBA1Atubulin alpha 1a | Joskus (5–29%) | 2 sairaudessa |
| TUBB3tubulin beta 3 class III | Joskus (5–29%) | 1 sairaudessa |
| TUBG1tubulin gamma 1 | Joskus (5–29%) | 1 sairaudessa |
| UBA5ubiquitin like modifier activating enzyme 5 | Joskus (5–29%) | 1 sairaudessa |
| UBAC2UBA domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| UBQLN2ubiquilin 2 | Joskus (5–29%) | 1 sairaudessa |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Joskus (5–29%) | 1 sairaudessa |
| UFSP2UFM1 specific peptidase 2 | Joskus (5–29%) | 1 sairaudessa |
| WARS1tryptophanyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| WDPCPWD repeat containing planar cell polarity effector | Joskus (5–29%) | 1 sairaudessa |
| WDR11WD repeat domain 11 | Joskus (5–29%) | 1 sairaudessa |
| WDR19WD repeat domain 19 | Joskus (5–29%) | 1 sairaudessa |
| XPAXPA, DNA damage recognition and repair factor | Joskus (5–29%) | 2 sairaudessa |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Joskus (5–29%) | 1 sairaudessa |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Joskus (5–29%) | 1 sairaudessa |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Joskus (5–29%) | 2 sairaudessa |
| ALKALK receptor tyrosine kinase | Harvinainen (1–4 %) | 1 sairaudessa |
| ALMS1ALMS1 centrosome and basal body associated protein | Harvinainen (1–4 %) | 1 sairaudessa |
| BMP15bone morphogenetic protein 15 | Harvinainen (1–4 %) | 1 sairaudessa |
| BNC1basonuclin zinc finger protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| CTCFCCCTC-binding factor | Harvinainen (1–4 %) | 1 sairaudessa |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| EXOSC3exosome component 3 | Harvinainen (1–4 %) | 1 sairaudessa |
| EXOSC8exosome component 8 | Harvinainen (1–4 %) | 1 sairaudessa |
| EXOSC9exosome component 9 | Harvinainen (1–4 %) | 1 sairaudessa |
| FIGLAfolliculogenesis specific bHLH transcription factor | Harvinainen (1–4 %) | 1 sairaudessa |
| FSHRfollicle stimulating hormone receptor | Harvinainen (1–4 %) | 1 sairaudessa |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Harvinainen (1–4 %) | 1 sairaudessa |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Harvinainen (1–4 %) | 1 sairaudessa |
| LMO1LIM domain only 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| MRPS22mitochondrial ribosomal protein S22 | Harvinainen (1–4 %) | 1 sairaudessa |
| MSH4mutS homolog 4 | Harvinainen (1–4 %) | 1 sairaudessa |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Harvinainen (1–4 %) | 1 sairaudessa |
| NAGSN-acetylglutamate synthase | Harvinainen (1–4 %) | 1 sairaudessa |
| NEFLneurofilament light chain | Harvinainen (1–4 %) | 1 sairaudessa |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| NUP107nucleoporin 107 | Harvinainen (1–4 %) | 1 sairaudessa |
| PHOX2Bpaired like homeobox 2B | Harvinainen (1–4 %) | 1 sairaudessa |
| POLR3HRNA polymerase III subunit H | Harvinainen (1–4 %) | 1 sairaudessa |
| PSMC3IPPSMC3 interacting protein | Harvinainen (1–4 %) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| SPASTspastin | Harvinainen (1–4 %) | 1 sairaudessa |
| SPIDRscaffold protein involved in DNA repair | Harvinainen (1–4 %) | 1 sairaudessa |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| STARD7StAR related lipid transfer domain containing 7 | Harvinainen (1–4 %) | 1 sairaudessa |
| ZSWIM7zinc finger SWIM-type containing 7 | Harvinainen (1–4 %) | 1 sairaudessa |
| ADA2adenosine deaminase 2 | Ei kirjattu | 1 sairaudessa |
| APOBapolipoprotein B | Ei kirjattu | 1 sairaudessa |
| ARSAarylsulfatase A | Ei kirjattu | 1 sairaudessa |
| ASS1argininosuccinate synthase 1 | Ei kirjattu | 1 sairaudessa |
| ATAD3AATPase family AAA domain containing 3A | Ei kirjattu | 1 sairaudessa |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Ei kirjattu | 1 sairaudessa |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Ei kirjattu | 1 sairaudessa |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ei kirjattu | 1 sairaudessa |
| BEAN1brain expressed associated with NEDD4 1 | Ei kirjattu | 1 sairaudessa |
| C19orf12chromosome 19 open reading frame 12 | Ei kirjattu | 1 sairaudessa |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Ei kirjattu | 1 sairaudessa |
| CCDC28Bcoiled-coil domain containing 28B | Ei kirjattu | 1 sairaudessa |
| CLN5CLN5 lysosomal BMP synthase | Ei kirjattu | 1 sairaudessa |
| COQ2coenzyme Q2, polyprenyltransferase | Ei kirjattu | 2 sairaudessa |
| CPS1carbamoyl-phosphate synthase 1 | Ei kirjattu | 1 sairaudessa |
| CSF1Rcolony stimulating factor 1 receptor | Ei kirjattu | 1 sairaudessa |
| CTC1CST telomere replication complex component 1 | Ei kirjattu | 1 sairaudessa |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
| DCXdoublecortin | Ei kirjattu | 1 sairaudessa |
| DHFRdihydrofolate reductase | Ei kirjattu | 1 sairaudessa |
| DNAJC5DnaJ heat shock protein family (Hsp40) member C5 | Ei kirjattu | 1 sairaudessa |
| EDNRBendothelin receptor type B | Ei kirjattu | 1 sairaudessa |
| ELOVL4ELOVL fatty acid elongase 4 | Ei kirjattu | 1 sairaudessa |
| FA2Hfatty acid 2-hydroxylase | Ei kirjattu | 1 sairaudessa |
| FRMD4AFERM domain containing 4A | Ei kirjattu | 1 sairaudessa |
| FTLferritin light chain | Ei kirjattu | 1 sairaudessa |
| FXNfrataxin | Ei kirjattu | 2 sairaudessa |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Ei kirjattu | 1 sairaudessa |
| GPIglucose-6-phosphate isomerase | Ei kirjattu | 1 sairaudessa |
| GSSglutathione synthetase | Ei kirjattu | 1 sairaudessa |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Ei kirjattu | 1 sairaudessa |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ei kirjattu | 1 sairaudessa |
| HTRA1HtrA serine peptidase 1 | Ei kirjattu | 1 sairaudessa |
| IFT140intraflagellar transport 140 | Ei kirjattu | 1 sairaudessa |
| ITM2Bintegral membrane protein 2B | Ei kirjattu | 1 sairaudessa |
| KIF1Bkinesin family member 1B | Ei kirjattu | 1 sairaudessa |
| MECP2methyl-CpG binding protein 2 | Ei kirjattu | 2 sairaudessa |
| MFSD8major facilitator superfamily domain containing 8 | Ei kirjattu | 1 sairaudessa |
| MPDU1mannose-P-dolichol utilization defect 1 | Ei kirjattu | 1 sairaudessa |
| MPV17mitochondrial inner membrane protein MPV17 | 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 |
| NANSN-acetylneuraminate synthase | Ei kirjattu | 1 sairaudessa |
| NFASCneurofascin | Ei kirjattu | 1 sairaudessa |
| NPC1NPC intracellular cholesterol transporter 1 | Ei kirjattu | 1 sairaudessa |
| NPC2NPC intracellular cholesterol transporter 2 | Ei kirjattu | 1 sairaudessa |
| NUP214nucleoporin 214 | Ei kirjattu | 1 sairaudessa |
| OTCornithine transcarbamylase | Ei kirjattu | 1 sairaudessa |
| OXR1oxidation resistance 1 | Ei kirjattu | 1 sairaudessa |
| PANK2pantothenate kinase 2 | Ei kirjattu | 1 sairaudessa |
| PDHXpyruvate dehydrogenase complex component X | Ei kirjattu | 1 sairaudessa |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ei kirjattu | 1 sairaudessa |
| PPT1palmitoyl-protein thioesterase 1 | Ei kirjattu | 1 sairaudessa |
| RNASEH1ribonuclease H1 | Ei kirjattu | 1 sairaudessa |
| ROGDIrogdi atypical leucine zipper | Ei kirjattu | 1 sairaudessa |
| RPIAribose 5-phosphate isomerase A | Ei kirjattu | 1 sairaudessa |
| SLC12A3solute carrier family 12 member 3 | Ei kirjattu | 1 sairaudessa |
| SLC17A5solute carrier family 17 member 5 | Ei kirjattu | 1 sairaudessa |
| SLC25A42solute carrier family 25 member 42 | Ei kirjattu | 1 sairaudessa |
| SLC35A1solute carrier family 35 member A1 | Ei kirjattu | 1 sairaudessa |
| SLC39A4solute carrier family 39 member 4 | Ei kirjattu | 1 sairaudessa |
| SLC46A1solute carrier family 46 member 1 | Ei kirjattu | 1 sairaudessa |
| SLC52A2solute carrier family 52 member 2 | Ei kirjattu | 1 sairaudessa |
| SUMF1sulfatase modifying factor 1 | Ei kirjattu | 1 sairaudessa |
| SUOXsulfite oxidase | Ei kirjattu | 1 sairaudessa |
| TBC1D23TBC1 domain family member 23 | Ei kirjattu | 1 sairaudessa |
| TCN2transcobalamin 2 | Ei kirjattu | 1 sairaudessa |
| TMEM107transmembrane protein 107 | Ei kirjattu | 2 sairaudessa |
| TMEM70transmembrane protein 70 | Ei kirjattu | 1 sairaudessa |
| TNPO2transportin 2 | Ei kirjattu | 1 sairaudessa |
| TPK1thiamin pyrophosphokinase 1 | Ei kirjattu | 1 sairaudessa |
| TRPC3transient receptor potential cation channel subfamily C member 3 | Ei kirjattu | 1 sairaudessa |
| TSFMTs translation elongation factor, mitochondrial | Ei kirjattu | 1 sairaudessa |
| VWA3Bvon Willebrand factor A domain containing 3B | Ei kirjattu | 1 sairaudessa |
| ZFYVE26zinc finger FYVE-type containing 26 | 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
- Inability to coordinate movements when walking271 geeniä
- Lack of coordination of movement179 geeniä
- Limb ataxia92 geeniä
- Instability or lack of coordination of central trunk muscles87 geeniä
- Difficulty performing quick and alternating movements68 geeniä
- Progressive cerebellar ataxia65 geeniä
- Episodic ataxia36 geeniä
- Spastic ataxia21 geeniä
- Nonprogressive cerebellar ataxia10 geeniä
- Cerebellar ataxia associated with quadrupedal gait4 geeniä
- Optic ataxia2 geeniä
- Dyssynergia1 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.
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Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa