Cecha
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).
Podsumowanie
- Znana także jako
- Cerebellar ataxia
- Układ organizmu
- Abnormality of the nervous system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Ataxia, and the rest of your genome, with one test.
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Zamawiam Genome Test933 genów powiązanych z Ataxia
Zmiany w tych genach powodują rzadkie choroby, w których występuje Ataxia. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ABCB1ATP binding cassette subfamily B member 1 | Zawsze | W 1 chorobie |
| ABCB7ATP binding cassette subfamily B member 7 | Zawsze | W 2 chorobach |
| ACO2aconitase 2 | Zawsze | W 1 chorobie |
| ADPRSADP-ribosylserine hydrolase | Zawsze | W 1 chorobie |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Zawsze | W 3 chorobach |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Zawsze | W 2 chorobach |
| AHI1Abelson helper integration site 1 | Zawsze | W 3 chorobach |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Zawsze | W 2 chorobach |
| APTXaprataxin | Zawsze | W 3 chorobach |
| ARL13BARF like GTPase 13B | Zawsze | W 2 chorobach |
| ARL3ARF like GTPase 3 | Zawsze | W 2 chorobach |
| ARV1ARV1 fatty acid homeostasis modulator | Zawsze | W 1 chorobie |
| ATCAYATCAY kinesin light chain interacting caytaxin | Zawsze | W 1 chorobie |
| ATG5autophagy related 5 | Zawsze | W 1 chorobie |
| ATG7autophagy related 7 | Zawsze | W 1 chorobie |
| ATMATM serine/threonine kinase | Zawsze | W 2 chorobach |
| ATP13A2ATPase cation transporting 13A2 | Zawsze | W 3 chorobach |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Zawsze | W 5 chorobach |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Zawsze | W 1 chorobie |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Zawsze | W 1 chorobie |
| ATXN2ataxin 2 | Zawsze | W 1 chorobie |
| ATXN3ataxin 3 | Zawsze | W 1 chorobie |
| ATXN7ataxin 7 | Zawsze | W 1 chorobie |
| ATXN7L3ataxin 7 like 3 | Zawsze | W 1 chorobie |
| B9D1B9 domain containing 1 | Zawsze | W 2 chorobach |
| CA8carbonic anhydrase 8 (inactive) | Zawsze | W 2 chorobach |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Zawsze | W 2 chorobach |
| CAPRIN1cell cycle associated protein 1 | Zawsze | W 1 chorobie |
| CBScystathionine beta-synthase | Zawsze | W 1 chorobie |
| CCT3chaperonin containing TCP1 subunit 3 | Zawsze | W 1 chorobie |
| CEP290centrosomal protein 290 | Zawsze | W 4 chorobach |
| CHP1calcineurin like EF-hand protein 1 | Zawsze | W 1 chorobie |
| CLN8CLN8 transmembrane ER and ERGIC protein | Zawsze | W 2 chorobach |
| COA7cytochrome c oxidase assembly factor 7 | Zawsze | W 1 chorobie |
| COG8component of oligomeric golgi complex 8 | Zawsze | W 2 chorobach |
| COL18A1collagen type XVIII alpha 1 chain | Zawsze | W 1 chorobie |
| COQ5coenzyme Q5, methyltransferase | Zawsze | W 1 chorobie |
| COQ8Acoenzyme Q8A | Zawsze | W 1 chorobie |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Zawsze | W 2 chorobach |
| COX15cytochrome c oxidase assembly factor COX15 | Zawsze | W 1 chorobie |
Pokaż jeszcze 893 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| COX20cytochrome c oxidase assembly factor COX20 | Zawsze | W 1 chorobie |
| COX6B1cytochrome c oxidase subunit 6B1 | Zawsze | W 1 chorobie |
| CRATcarnitine O-acetyltransferase | Zawsze | W 1 chorobie |
| CST3cystatin C | Zawsze | W 1 chorobie |
| CTBP1C-terminal binding protein 1 | Zawsze | W 2 chorobach |
| CTSDcathepsin D | Zawsze | W 1 chorobie |
| CWF19L1CWF19 like cell cycle control factor 1 | Zawsze | W 1 chorobie |
| DAB1DAB adaptor protein 1 | Zawsze | W 1 chorobie |
| DAGLAdiacylglycerol lipase alpha | Zawsze | W 1 chorobie |
| DMXL2Dmx like 2 | Zawsze | W 2 chorobach |
| DNMT1DNA methyltransferase 1 | Zawsze | W 3 chorobach |
| ELOVL1ELOVL fatty acid elongase 1 | Zawsze | W 1 chorobie |
| ELOVL5ELOVL fatty acid elongase 5 | Zawsze | W 1 chorobie |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| EXOSC5exosome component 5 | Zawsze | W 1 chorobie |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Zawsze | W 1 chorobie |
| FTH1ferritin heavy chain 1 | Zawsze | W 1 chorobie |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Zawsze | W 1 chorobie |
| GFAPglial fibrillary acidic protein | Zawsze | W 3 chorobach |
| GJC2gap junction protein gamma 2 | Zawsze | W 3 chorobach |
| GOSR2golgi SNAP receptor complex member 2 | Zawsze | W 2 chorobach |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Zawsze | W 1 chorobie |
| GRM1glutamate metabotropic receptor 1 | Zawsze | W 2 chorobach |
| GRNgranulin precursor | Zawsze | W 1 chorobie |
| GTF3C3general transcription factor IIIC subunit 3 | Zawsze | W 1 chorobie |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Zawsze | W 1 chorobie |
| HMBShydroxymethylbilane synthase | Zawsze | W 2 chorobach |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Zawsze | W 1 chorobie |
| INPP5Einositol polyphosphate-5-phosphatase E | Zawsze | W 4 chorobach |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Zawsze | W 5 chorobach |
| KARS1lysyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Zawsze | W 2 chorobach |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Zawsze | W 3 chorobach |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Zawsze | W 1 chorobie |
| LRRC7leucine rich repeat containing 7 | Zawsze | W 1 chorobie |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Zawsze | W 1 chorobie |
| MALmal, T cell differentiation protein (MAL blood group) | Zawsze | W 1 chorobie |
| MARS1methionyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| MAU2MAU2 sister chromatid cohesion factor | Zawsze | W 1 chorobie |
| MBD5methyl-CpG binding domain protein 5 | Zawsze | W 2 chorobach |
| MCM3APminichromosome maintenance complex component 3 associated protein | Zawsze | W 1 chorobie |
| MED16mediator complex subunit 16 | Zawsze | W 1 chorobie |
| MICU1mitochondrial calcium uptake 1 | Zawsze | W 2 chorobach |
| MKS1MKS transition zone complex subunit 1 | Zawsze | W 4 chorobach |
| MRE11MRE11 double strand break repair nuclease | Zawsze | W 2 chorobach |
| MRPL12mitochondrial ribosomal protein L12 | Zawsze | W 1 chorobie |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Zawsze | W 1 chorobie |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Zawsze | W 4 chorobach |
| MVKmevalonate kinase | Zawsze | W 3 chorobach |
| NADK2NAD kinase 2, mitochondrial | Zawsze | W 1 chorobie |
| NARS1asparaginyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Zawsze | W 2 chorobach |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Zawsze | W 2 chorobach |
| NKX2-1NK2 homeobox 1 | Zawsze | W 2 chorobach |
| NKX6-2NK6 homeobox 2 | Zawsze | W 2 chorobach |
| NONOnon-POU domain containing octamer binding | Zawsze | W 2 chorobach |
| NPTX1neuronal pentraxin 1 | Zawsze | W 1 chorobie |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Zawsze | W 2 chorobach |
| NUP54nucleoporin 54 | Zawsze | W 2 chorobach |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Zawsze | W 2 chorobach |
| OPA1OPA1 mitochondrial dynamin like GTPase | Zawsze | W 5 chorobach |
| PCNAproliferating cell nuclear antigen | Zawsze | W 1 chorobie |
| PEX10peroxisomal biogenesis factor 10 | Zawsze | W 2 chorobach |
| PEX12peroxisomal biogenesis factor 12 | Zawsze | W 2 chorobach |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Zawsze | W 1 chorobie |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Zawsze | W 2 chorobach |
| PLP1proteolipid protein 1 | Zawsze | W 5 chorobach |
| PNKPpolynucleotide kinase 3'-phosphatase | Zawsze | W 3 chorobach |
| PNPpurine nucleoside phosphorylase | Zawsze | W 2 chorobach |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Zawsze | W 1 chorobie |
| POLGDNA polymerase gamma, catalytic subunit | Zawsze | W 7 chorobach |
| POLG2DNA polymerase gamma 2, accessory subunit | Zawsze | W 2 chorobach |
| POLR1CRNA polymerase I and III subunit C | Zawsze | W 2 chorobach |
| POLR3BRNA polymerase III subunit B | Zawsze | W 4 chorobach |
| POLR3KRNA polymerase III subunit K | Zawsze | W 1 chorobie |
| POU4F1POU class 4 homeobox 1 | Zawsze | W 2 chorobach |
| PRF1perforin 1 | Zawsze | W 1 chorobie |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Zawsze | W 1 chorobie |
| PTRH2peptidyl-tRNA hydrolase 2 | Zawsze | W 2 chorobach |
| RAB3ARAB3A, member RAS oncogene family | Zawsze | W 1 chorobie |
| RAD50RAD50 double strand break repair protein | Zawsze | W 1 chorobie |
| REPS1RALBP1 associated Eps domain containing 1 | Zawsze | W 1 chorobie |
| RFC1replication factor C subunit 1 | Zawsze | W 1 chorobie |
| RNF216ring finger protein 216 | Zawsze | W 2 chorobach |
| RNF220ring finger protein 220 | Zawsze | W 1 chorobie |
| RPGRIP1LRPGRIP1 like | Zawsze | W 4 chorobach |
| RUBCNrubicon autophagy regulator | Zawsze | W 1 chorobie |
| SACSsacsin molecular chaperone | Zawsze | W 2 chorobach |
| SARS1seryl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Zawsze | W 3 chorobach |
| SCO1synthesis of cytochrome C oxidase 1 | Zawsze | W 1 chorobie |
| SCO2synthesis of cytochrome C oxidase 2 | Zawsze | W 2 chorobach |
| SDHDsuccinate dehydrogenase complex subunit D | Zawsze | W 2 chorobach |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Zawsze | W 1 chorobie |
| SEMA6Bsemaphorin 6B | Zawsze | W 1 chorobie |
| SIL1SIL1 nucleotide exchange factor | Zawsze | W 2 chorobach |
| SLC13A3solute carrier family 13 member 3 | Zawsze | W 1 chorobie |
| SLC18A2solute carrier family 18 member A2 | Zawsze | W 2 chorobach |
| SLC4A10solute carrier family 4 member 10 | Zawsze | W 1 chorobie |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Zawsze | W 1 chorobie |
| SLC9A1solute carrier family 9 member A1 | Zawsze | W 1 chorobie |
| SLC9A6solute carrier family 9 member A6 | Zawsze | W 1 chorobie |
| SNAP25synaptosome associated protein 25 | Zawsze | W 1 chorobie |
| SOD1superoxide dismutase 1 | Zawsze | W 1 chorobie |
| SPTBN2spectrin beta, non-erythrocytic 2 | Zawsze | W 1 chorobie |
| SQSTM1sequestosome 1 | Zawsze | W 1 chorobie |
| STUB1STIP1 homology and U-box containing protein 1 | Zawsze | W 1 chorobie |
| SUFUSUFU negative regulator of hedgehog signaling | Zawsze | W 3 chorobach |
| SURF1SURF1 cytochrome c oxidase assembly factor | Zawsze | W 2 chorobach |
| SYT14synaptotagmin 14 | Zawsze | W 2 chorobach |
| TACO1translational activator of cytochrome c oxidase I | Zawsze | W 1 chorobie |
| TANGO2transport and golgi organization 2 homolog | Zawsze | W 2 chorobach |
| TCTN2tectonic family member 2 | Zawsze | W 2 chorobach |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Zawsze | W 2 chorobach |
| TEFMtranscription elongation factor, mitochondrial | Zawsze | W 1 chorobie |
| TGM6transglutaminase 6 | Zawsze | W 1 chorobie |
| THAP11THAP domain containing 11 | Zawsze | W 1 chorobie |
| TMEM240transmembrane protein 240 | Zawsze | W 1 chorobie |
| TMEM63Btransmembrane protein 63B | Zawsze | W 1 chorobie |
| TOP3ADNA topoisomerase III alpha | Zawsze | W 2 chorobach |
| TPP1tripeptidyl peptidase 1 | Zawsze | W 2 chorobach |
| TTPAalpha tocopherol transfer protein | Zawsze | W 2 chorobach |
| UBE3Aubiquitin protein ligase E3A | Zawsze | W 5 chorobach |
| UCHL1ubiquitin C-terminal hydrolase L1 | Zawsze | W 1 chorobie |
| UNC13Aunc-13 homolog A | Zawsze | W 1 chorobie |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Zawsze | W 1 chorobie |
| UROC1urocanate hydratase 1 | Zawsze | W 2 chorobach |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| VPS41VPS41 subunit of HOPS complex | Zawsze | W 1 chorobie |
| VRK1VRK serine/threonine kinase 1 | Zawsze | W 2 chorobach |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Zawsze | W 3 chorobach |
| WWOXWW domain containing oxidoreductase | Zawsze | W 1 chorobie |
| XRCC4X-ray repair cross complementing 4 | Zawsze | W 1 chorobie |
| ZBTB11zinc finger and BTB domain containing 11 | Zawsze | W 1 chorobie |
| ACBD6acyl-CoA binding domain containing 6 | Bardzo często (80–99%) | W 1 chorobie |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Bardzo często (80–99%) | W 2 chorobach |
| ARMC9armadillo repeat containing 9 | Bardzo często (80–99%) | W 1 chorobie |
| ATAD1ATPase family AAA domain containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| ATP8A2ATPase phospholipid transporting 8A2 | Bardzo często (80–99%) | W 1 chorobie |
| B9D2B9 domain containing 2 | Bardzo często (80–99%) | W 1 chorobie |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Bardzo często (80–99%) | W 1 chorobie |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Bardzo często (80–99%) | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Bardzo często (80–99%) | W 7 chorobach |
| CBY1chibby 1, beta catenin antagonist | Bardzo często (80–99%) | W 1 chorobie |
| CC2D2Acoiled-coil and C2 domain containing 2A | Bardzo często (80–99%) | W 2 chorobach |
| CEP104centrosomal protein 104 | Bardzo często (80–99%) | W 2 chorobach |
| CEP120centrosomal protein 120 | Bardzo często (80–99%) | W 2 chorobach |
| CEP41centrosomal protein 41 | Bardzo często (80–99%) | W 3 chorobach |
| CLIP2CAP-Gly domain containing linker protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| CLTRNcollectrin, amino acid transport regulator | Bardzo często (80–99%) | W 1 chorobie |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Bardzo często (80–99%) | W 3 chorobach |
| CPLX1complexin 1 | Bardzo często (80–99%) | W 2 chorobach |
| CSPP1centrosome and spindle pole associated protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Bardzo często (80–99%) | W 2 chorobach |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Bardzo często (80–99%) | W 2 chorobach |
| EIF4Heukaryotic translation initiation factor 4H | Bardzo często (80–99%) | W 1 chorobie |
| ELNelastin | Bardzo często (80–99%) | W 1 chorobie |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Bardzo często (80–99%) | W 3 chorobach |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Bardzo często (80–99%) | W 3 chorobach |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Bardzo często (80–99%) | W 4 chorobach |
| ERCC5ERCC excision repair 5, endonuclease | Bardzo często (80–99%) | W 3 chorobach |
| FDXRferredoxin reductase | Bardzo często (80–99%) | W 2 chorobach |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Bardzo często (80–99%) | W 1 chorobie |
| FLVCR1FLVCR choline and heme transporter 1 | Bardzo często (80–99%) | W 2 chorobach |
| FMR1fragile X messenger ribonucleoprotein 1 | Bardzo często (80–99%) | W 1 chorobie |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| FRMD5FERM domain containing 5 | Bardzo często (80–99%) | W 1 chorobie |
| GBA2glucosylceramidase beta 2 | Bardzo często (80–99%) | W 1 chorobie |
| GLRA1glycine receptor alpha 1 | Bardzo często (80–99%) | W 1 chorobie |
| GLRBglycine receptor beta | Bardzo często (80–99%) | W 1 chorobie |
| GPHNgephyrin | Bardzo często (80–99%) | W 1 chorobie |
| GTF2Igeneral transcription factor IIi | Bardzo często (80–99%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Bardzo często (80–99%) | W 1 chorobie |
| HEXBhexosaminidase subunit beta | Bardzo często (80–99%) | W 2 chorobach |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Bardzo często (80–99%) | W 1 chorobie |
| IFT74intraflagellar transport 74 | Bardzo często (80–99%) | W 2 chorobach |
| KATNIPkatanin interacting protein | Bardzo często (80–99%) | W 1 chorobie |
| KCND3potassium voltage-gated channel subfamily D member 3 | Bardzo często (80–99%) | W 1 chorobie |
| KIAA0586KIAA0586 | Bardzo często (80–99%) | W 1 chorobie |
| KIAA0753KIAA0753 | Bardzo często (80–99%) | W 2 chorobach |
| LAMA1laminin subunit alpha 1 | Bardzo często (80–99%) | W 1 chorobie |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| LIMK1LIM domain kinase 1 | Bardzo często (80–99%) | W 1 chorobie |
| LMNB1lamin B1 | Bardzo często (80–99%) | W 1 chorobie |
| METTL27methyltransferase like 27 | Bardzo często (80–99%) | W 1 chorobie |
| MMEmembrane metalloendopeptidase | Bardzo często (80–99%) | W 1 chorobie |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Bardzo często (80–99%) | W 5 chorobach |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Bardzo często (80–99%) | W 4 chorobach |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Bardzo często (80–99%) | W 2 chorobach |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Bardzo często (80–99%) | W 5 chorobach |
| MT-RNR1mitochondrially encoded 12S rRNA | Bardzo często (80–99%) | W 1 chorobie |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Bardzo często (80–99%) | W 3 chorobach |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Bardzo często (80–99%) | W 3 chorobach |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Bardzo często (80–99%) | W 4 chorobach |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Bardzo często (80–99%) | W 5 chorobach |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Bardzo często (80–99%) | W 2 chorobach |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Bardzo często (80–99%) | W 2 chorobach |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Bardzo często (80–99%) | W 3 chorobach |
| MTRFRmitochondrial translation release factor in rescue | Bardzo często (80–99%) | W 2 chorobach |
| MYO5Amyosin VA | Bardzo często (80–99%) | W 2 chorobach |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Bardzo często (80–99%) | W 1 chorobie |
| NAXENAD(P)HX epimerase | Bardzo często (80–99%) | W 2 chorobach |
| NCF1neutrophil cytosolic factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Bardzo często (80–99%) | W 2 chorobach |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Bardzo często (80–99%) | W 3 chorobach |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Bardzo często (80–99%) | W 2 chorobach |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Bardzo często (80–99%) | W 2 chorobach |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Bardzo często (80–99%) | W 2 chorobach |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Bardzo często (80–99%) | W 1 chorobie |
| NELFAnegative elongation factor complex member A | Bardzo często (80–99%) | W 1 chorobie |
| NEU1neuraminidase 1 | Bardzo często (80–99%) | W 3 chorobach |
| NOP56NOP56 ribonucleoprotein | Bardzo często (80–99%) | W 2 chorobach |
| NOTCH2NLCnotch 2 N-terminal like C | Bardzo często (80–99%) | W 3 chorobach |
| NPHP1nephrocystin 1 | Bardzo często (80–99%) | W 4 chorobach |
| NSD2nuclear receptor binding SET domain protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Bardzo często (80–99%) | W 3 chorobach |
| OGDHoxoglutarate dehydrogenase | Bardzo często (80–99%) | W 1 chorobie |
| PAX6paired box 6 | Bardzo często (80–99%) | W 1 chorobie |
| PDE6Dphosphodiesterase 6D | Bardzo często (80–99%) | W 2 chorobach |
| PEX7peroxisomal biogenesis factor 7 | Bardzo często (80–99%) | W 3 chorobach |
| PGM3phosphoglucomutase 3 | Bardzo często (80–99%) | W 2 chorobach |
| PHYHphytanoyl-CoA 2-hydroxylase | Bardzo często (80–99%) | W 2 chorobach |
| PIBF1progesterone immunomodulatory binding factor 1 | Bardzo często (80–99%) | W 2 chorobach |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Bardzo często (80–99%) | W 2 chorobach |
| PMM2phosphomannomutase 2 | Bardzo często (80–99%) | W 2 chorobach |
| PMPCApeptidase, mitochondrial processing subunit alpha | Bardzo często (80–99%) | W 2 chorobach |
| PNPLA6patatin like domain 6, lysophospholipase | Bardzo często (80–99%) | W 8 chorobach |
| POLR3ARNA polymerase III subunit A | Bardzo często (80–99%) | W 4 chorobach |
| PRNPprion protein (Kanno blood group) | Bardzo często (80–99%) | W 3 chorobach |
| PTENphosphatase and tensin homolog | Bardzo często (80–99%) | W 2 chorobach |
| RFC2replication factor C subunit 2 | Bardzo często (80–99%) | W 1 chorobie |
| SAMD9Lsterile alpha motif domain containing 9 like | Bardzo często (80–99%) | W 3 chorobach |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Bardzo często (80–99%) | W 5 chorobach |
| SETXsenataxin | Bardzo często (80–99%) | W 1 chorobie |
| SLC1A3solute carrier family 1 member 3 | Bardzo często (80–99%) | W 2 chorobach |
| SLC2A1solute carrier family 2 member 1 | Bardzo często (80–99%) | W 8 chorobach |
| SLC6A19solute carrier family 6 member 19 | Bardzo często (80–99%) | W 1 chorobie |
| SLC6A5solute carrier family 6 member 5 | Bardzo często (80–99%) | W 1 chorobie |
| SNAP29synaptosome associated protein 29 | Bardzo często (80–99%) | W 1 chorobie |
| SNX14sorting nexin 14 | Bardzo często (80–99%) | W 2 chorobach |
| SOX10SRY-box transcription factor 10 | Bardzo często (80–99%) | W 3 chorobach |
| STX1Asyntaxin 1A | Bardzo często (80–99%) | W 1 chorobie |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Bardzo często (80–99%) | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| TBL2transducin beta like 2 | Bardzo często (80–99%) | W 1 chorobie |
| TBPTATA-box binding protein | Bardzo często (80–99%) | W 2 chorobach |
| TCF4transcription factor 4 | Bardzo często (80–99%) | W 1 chorobie |
| TCTN1tectonic family member 1 | Bardzo często (80–99%) | W 1 chorobie |
| TCTN3tectonic family member 3 | Bardzo często (80–99%) | W 2 chorobach |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| TMEM126Btransmembrane protein 126B | Bardzo często (80–99%) | W 1 chorobie |
| TMEM138transmembrane protein 138 | Bardzo często (80–99%) | W 1 chorobie |
| TMEM216transmembrane protein 216 | Bardzo często (80–99%) | W 3 chorobach |
| TMEM218transmembrane protein 218 | Bardzo często (80–99%) | W 1 chorobie |
| TMEM231transmembrane protein 231 | Bardzo często (80–99%) | W 2 chorobach |
| TMEM237transmembrane protein 237 | Bardzo często (80–99%) | W 4 chorobach |
| TMEM270transmembrane protein 270 | Bardzo często (80–99%) | W 1 chorobie |
| TMEM67transmembrane protein 67 | Bardzo często (80–99%) | W 4 chorobach |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Bardzo często (80–99%) | W 1 chorobie |
| TUBB2Btubulin beta 2B class IIb | Bardzo często (80–99%) | W 2 chorobach |
| TWNKtwinkle mtDNA helicase | Bardzo często (80–99%) | W 5 chorobach |
| VLDLRvery low density lipoprotein receptor | Bardzo często (80–99%) | W 1 chorobie |
| VPS13Dvacuolar protein sorting 13 homolog D | Bardzo często (80–99%) | W 1 chorobie |
| VPS37DVPS37D subunit of ESCRT-I | Bardzo często (80–99%) | W 1 chorobie |
| WDR73WD repeat domain 73 | Bardzo często (80–99%) | W 2 chorobach |
| WDR81WD repeat domain 81 | Bardzo często (80–99%) | W 2 chorobach |
| ZNF423zinc finger protein 423 | Bardzo często (80–99%) | W 1 chorobie |
| ZNF592zinc finger protein 592 | Bardzo często (80–99%) | W 1 chorobie |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Często (30–79%) | W 1 chorobie |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Często (30–79%) | W 2 chorobach |
| ADARadenosine deaminase RNA specific | Często (30–79%) | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Często (30–79%) | W 2 chorobach |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Często (30–79%) | W 2 chorobach |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Często (30–79%) | W 2 chorobach |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Często (30–79%) | W 2 chorobach |
| AQP4aquaporin 4 | Często (30–79%) | W 1 chorobie |
| ASLargininosuccinate lyase | Często (30–79%) | W 2 chorobach |
| ATN1atrophin 1 | Często (30–79%) | W 2 chorobach |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Często (30–79%) | W 2 chorobach |
| ATP5F1AATP synthase F1 subunit alpha | Często (30–79%) | W 1 chorobie |
| ATP5F1DATP synthase F1 subunit delta | Często (30–79%) | W 1 chorobie |
| ATP5F1EATP synthase F1 subunit epsilon | Często (30–79%) | W 1 chorobie |
| ATP5MKATP synthase membrane subunit k | Często (30–79%) | W 2 chorobach |
| ATP5POATP synthase peripheral stalk subunit OSCP | Często (30–79%) | W 1 chorobie |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Często (30–79%) | W 1 chorobie |
| ATXN8ataxin 8 | Często (30–79%) | W 1 chorobie |
| ATXN8OSATXN8 opposite strand lncRNA | Często (30–79%) | W 1 chorobie |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Często (30–79%) | W 1 chorobie |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Często (30–79%) | W 2 chorobach |
| BTDbiotinidase | Często (30–79%) | W 2 chorobach |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Często (30–79%) | W 2 chorobach |
| CAMTA1calmodulin binding transcription activator 1 | Często (30–79%) | W 2 chorobach |
| CAPN1calpain 1 | Często (30–79%) | W 2 chorobach |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Często (30–79%) | W 1 chorobie |
| CDC42cell division cycle 42 | Często (30–79%) | W 1 chorobie |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Często (30–79%) | W 1 chorobie |
| CISD2CDGSH iron sulfur domain 2 | Często (30–79%) | W 1 chorobie |
| CLN6CLN6 transmembrane ER protein | Często (30–79%) | W 1 chorobie |
| CMPK2cytidine/uridine monophosphate kinase 2 | Często (30–79%) | W 1 chorobie |
| CNTNAP2contactin associated protein 2 | Często (30–79%) | W 2 chorobach |
| COA8cytochrome c oxidase assembly factor 8 | Często (30–79%) | W 2 chorobach |
| COG4component of oligomeric golgi complex 4 | Często (30–79%) | W 2 chorobach |
| COQ4coenzyme Q4 | Często (30–79%) | W 1 chorobie |
| COXFA4cytochrome c oxidase associated subunit FA4 | Często (30–79%) | W 1 chorobie |
| CPceruloplasmin | Często (30–79%) | W 2 chorobach |
| CSNK2A1casein kinase 2 alpha 1 | Często (30–79%) | W 1 chorobie |
| CSTBcystatin B | Często (30–79%) | W 2 chorobach |
| CTNNA2catenin alpha 2 | Często (30–79%) | W 1 chorobie |
| CTSFcathepsin F | Często (30–79%) | W 1 chorobie |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Często (30–79%) | W 2 chorobach |
| DARS1aspartyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Często (30–79%) | W 2 chorobach |
| DHX30DExH-box helicase 30 | Często (30–79%) | W 1 chorobie |
| DLATdihydrolipoamide S-acetyltransferase | Często (30–79%) | W 1 chorobie |
| DPYSL5dihydropyrimidinase like 5 | Często (30–79%) | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Często (30–79%) | W 2 chorobach |
| EBF3EBF transcription factor 3 | Często (30–79%) | W 2 chorobach |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Często (30–79%) | W 2 chorobach |
| ELP1elongator acetyltransferase complex subunit 1 | Często (30–79%) | W 1 chorobie |
| EPM2AEPM2A glucan phosphatase, laforin | Często (30–79%) | W 1 chorobie |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Często (30–79%) | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Często (30–79%) | W 4 chorobach |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Często (30–79%) | W 3 chorobach |
| ETHE1ETHE1 persulfide dioxygenase | Często (30–79%) | W 2 chorobach |
| FAM149B1family with sequence similarity 149 member B1 | Często (30–79%) | W 1 chorobie |
| FGF12fibroblast growth factor 12 | Często (30–79%) | W 2 chorobach |
| FRMPD4FERM and PDZ domain containing 4 | Często (30–79%) | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Często (30–79%) | W 2 chorobach |
| GALCgalactosylceramidase | Często (30–79%) | W 2 chorobach |
| GAMTguanidinoacetate N-methyltransferase | Często (30–79%) | W 2 chorobach |
| GBA1glucosylceramidase beta 1 | Często (30–79%) | W 2 chorobach |
| GCH1GTP cyclohydrolase 1 | Często (30–79%) | W 1 chorobie |
| GEMIN5gem nuclear organelle associated protein 5 | Często (30–79%) | W 1 chorobie |
| GJA1gap junction protein alpha 1 | Często (30–79%) | W 2 chorobach |
| GLB1galactosidase beta 1 | Często (30–79%) | W 3 chorobach |
| GPRC5BG protein-coupled receptor class C group 5 member B | Często (30–79%) | W 1 chorobie |
| GSNgelsolin | Często (30–79%) | W 1 chorobie |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Często (30–79%) | W 3 chorobach |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Często (30–79%) | W 3 chorobach |
| HEPACAMhepatic and glial cell adhesion molecule | Często (30–79%) | W 3 chorobach |
| HK1hexokinase 1 | Często (30–79%) | W 1 chorobie |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Często (30–79%) | W 1 chorobie |
| HTThuntingtin | Często (30–79%) | W 1 chorobie |
| IMPDH2inosine monophosphate dehydrogenase 2 | Często (30–79%) | W 1 chorobie |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Często (30–79%) | W 1 chorobie |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Często (30–79%) | W 1 chorobie |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Często (30–79%) | W 1 chorobie |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Często (30–79%) | W 1 chorobie |
| KIF1Akinesin family member 1A | Często (30–79%) | W 3 chorobach |
| KIF7kinesin family member 7 | Często (30–79%) | W 1 chorobie |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Często (30–79%) | W 1 chorobie |
| LITAFlipopolysaccharide induced TNF factor | Często (30–79%) | W 1 chorobie |
| LRPPRCleucine rich pentatricopeptide repeat containing | Często (30–79%) | W 2 chorobach |
| MAN2B1mannosidase alpha class 2B member 1 | Często (30–79%) | W 2 chorobach |
| MCOLN1mucolipin TRP cation channel 1 | Często (30–79%) | W 1 chorobie |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Często (30–79%) | W 1 chorobie |
| MLC1modulator of VRAC current 1 | Często (30–79%) | W 2 chorobach |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Często (30–79%) | W 7 chorobach |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Często (30–79%) | W 2 chorobach |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Często (30–79%) | W 2 chorobach |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Często (30–79%) | W 1 chorobie |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Często (30–79%) | W 3 chorobach |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Często (30–79%) | W 4 chorobach |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Często (30–79%) | W 4 chorobach |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Często (30–79%) | W 1 chorobie |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Często (30–79%) | W 1 chorobie |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Często (30–79%) | W 2 chorobach |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Często (30–79%) | W 2 chorobach |
| MTHFRmethylenetetrahydrofolate reductase | Często (30–79%) | W 1 chorobie |
| MYORGmyogenesis regulating glycosidase | Często (30–79%) | W 1 chorobie |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Często (30–79%) | W 1 chorobie |
| NEMFnuclear export mediator factor | Często (30–79%) | W 1 chorobie |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Często (30–79%) | W 1 chorobie |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Często (30–79%) | W 1 chorobie |
| NOL3nucleolar protein 3 | Często (30–79%) | W 1 chorobie |
| NOTCH3notch receptor 3 | Często (30–79%) | W 1 chorobie |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Często (30–79%) | W 1 chorobie |
| NUP62nucleoporin 62 | Często (30–79%) | W 1 chorobie |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Często (30–79%) | W 3 chorobach |
| OPHN1oligophrenin 1 | Często (30–79%) | W 1 chorobie |
| PDE2Aphosphodiesterase 2A | Często (30–79%) | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Często (30–79%) | W 1 chorobie |
| PEX11Bperoxisomal biogenesis factor 11 beta | Często (30–79%) | W 1 chorobie |
| PEX13peroxisomal biogenesis factor 13 | Często (30–79%) | W 1 chorobie |
| PEX14peroxisomal biogenesis factor 14 | Często (30–79%) | W 1 chorobie |
| PEX16peroxisomal biogenesis factor 16 | Często (30–79%) | W 2 chorobach |
| PEX19peroxisomal biogenesis factor 19 | Często (30–79%) | W 1 chorobie |
| PEX2peroxisomal biogenesis factor 2 | Często (30–79%) | W 2 chorobach |
| PEX26peroxisomal biogenesis factor 26 | Często (30–79%) | W 1 chorobie |
| PEX3peroxisomal biogenesis factor 3 | Często (30–79%) | W 1 chorobie |
| PEX5peroxisomal biogenesis factor 5 | Często (30–79%) | W 1 chorobie |
| PEX6peroxisomal biogenesis factor 6 | Często (30–79%) | W 2 chorobach |
| PGBD5piggyBac transposable element derived 5 | Często (30–79%) | W 1 chorobie |
| PGK1phosphoglycerate kinase 1 | Często (30–79%) | W 2 chorobach |
| PGM2L1phosphoglucomutase 2 like 1 | Często (30–79%) | W 1 chorobie |
| PI4KAphosphatidylinositol 4-kinase alpha | Często (30–79%) | W 1 chorobie |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Często (30–79%) | W 1 chorobie |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Często (30–79%) | W 1 chorobie |
| PITRM1pitrilysin metallopeptidase 1 | Często (30–79%) | W 1 chorobie |
| PLA2G6phospholipase A2 group VI | Często (30–79%) | W 2 chorobach |
| PLEKHG4pleckstrin homology and RhoGEF domain containing G4 | Często (30–79%) | W 1 chorobie |
| POU3F4POU class 3 homeobox 4 | Często (30–79%) | W 1 chorobie |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Często (30–79%) | W 1 chorobie |
| PRICKLE1prickle planar cell polarity protein 1 | Często (30–79%) | W 2 chorobach |
| PRODHproline dehydrogenase 1 | Często (30–79%) | W 1 chorobie |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Często (30–79%) | W 5 chorobach |
| PUM1pumilio RNA binding family member 1 | Często (30–79%) | W 1 chorobie |
| RARS1arginyl-tRNA synthetase 1 | Często (30–79%) | W 2 chorobach |
| RFXAPregulatory factor X associated protein | Często (30–79%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Często (30–79%) | W 1 chorobie |
| RIMS2regulating synaptic membrane exocytosis 2 | Często (30–79%) | W 1 chorobie |
| RIPK4receptor interacting serine/threonine kinase 4 | Często (30–79%) | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Często (30–79%) | W 1 chorobie |
| RORARAR related orphan receptor A | Często (30–79%) | W 1 chorobie |
| RPL10ribosomal protein L10 | Często (30–79%) | W 2 chorobach |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Często (30–79%) | W 3 chorobach |
| RTN4IP1reticulon 4 interacting protein 1 | Często (30–79%) | W 1 chorobie |
| SCARB2scavenger receptor class B member 2 | Często (30–79%) | W 1 chorobie |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Często (30–79%) | W 2 chorobach |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Często (30–79%) | W 3 chorobach |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Często (30–79%) | W 2 chorobach |
| SKOR2SKI family transcriptional corepressor 2 | Często (30–79%) | W 1 chorobie |
| SLC16A2solute carrier family 16 member 2 | Często (30–79%) | W 2 chorobach |
| SLC19A3solute carrier family 19 member 3 | Często (30–79%) | W 1 chorobie |
| SLC25A46solute carrier family 25 member 46 | Często (30–79%) | W 2 chorobach |
| SLC6A8solute carrier family 6 member 8 | Często (30–79%) | W 1 chorobie |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Często (30–79%) | W 2 chorobach |
| SMPD1sphingomyelin phosphodiesterase 1 | Często (30–79%) | W 2 chorobach |
| SNORD118small nucleolar RNA, C/D box 118 | Często (30–79%) | W 2 chorobach |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Często (30–79%) | W 3 chorobach |
| SPRsepiapterin reductase | Często (30–79%) | W 1 chorobie |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Często (30–79%) | W 2 chorobach |
| SRD5A3steroid 5 alpha-reductase 3 | Często (30–79%) | W 1 chorobie |
| SRPK3SRSF protein kinase 3 | Często (30–79%) | W 1 chorobie |
| STN1STN1 subunit of CST complex | Często (30–79%) | W 1 chorobie |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Często (30–79%) | W 3 chorobach |
| TBCDtubulin folding cofactor D | Często (30–79%) | W 2 chorobach |
| TBCEtubulin folding cofactor E | Często (30–79%) | W 1 chorobie |
| TCF20transcription factor 20 | Często (30–79%) | W 1 chorobie |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Często (30–79%) | W 2 chorobach |
| THtyrosine hydroxylase | Często (30–79%) | W 1 chorobie |
| TMEM63Atransmembrane protein 63A | Często (30–79%) | W 1 chorobie |
| TOE1target of EGR1, exonuclease | Często (30–79%) | W 1 chorobie |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Często (30–79%) | W 1 chorobie |
| TPRKBTP53RK binding protein | Często (30–79%) | W 1 chorobie |
| TRIM8tripartite motif containing 8 | Często (30–79%) | W 1 chorobie |
| TRNT1tRNA nucleotidyl transferase 1 | Często (30–79%) | W 1 chorobie |
| TSPOAP1TSPO associated protein 1 | Często (30–79%) | W 1 chorobie |
| TTRtransthyretin | Często (30–79%) | W 1 chorobie |
| TUBA4Atubulin alpha 4a | Często (30–79%) | W 1 chorobie |
| TUBBtubulin beta class I | Często (30–79%) | W 1 chorobie |
| TUBB4Atubulin beta 4A class IVa | Często (30–79%) | W 1 chorobie |
| UBE3Cubiquitin protein ligase E3C | Często (30–79%) | W 1 chorobie |
| UBTFupstream binding transcription factor | Często (30–79%) | W 1 chorobie |
| VPS4Avacuolar protein sorting 4 homolog A | Często (30–79%) | W 1 chorobie |
| WFS1wolframin ER transmembrane glycoprotein | Często (30–79%) | W 2 chorobach |
| YME1L1YME1 like 1 ATPase | Często (30–79%) | W 1 chorobie |
| ZBTB20zinc finger and BTB domain containing 20 | Często (30–79%) | W 1 chorobie |
| ZNF142zinc finger protein 142 | Często (30–79%) | W 1 chorobie |
| ZSWIM6zinc finger SWIM-type containing 6 | Często (30–79%) | W 1 chorobie |
| AAASaladin WD repeat nucleoporin | Czasami (5–29%) | W 2 chorobach |
| AARS1alanyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| ABCA5ATP binding cassette subfamily A member 5 | Czasami (5–29%) | W 1 chorobie |
| ABCC8ATP binding cassette subfamily C member 8 | Czasami (5–29%) | W 2 chorobach |
| ABCD1ATP binding cassette subfamily D member 1 | Czasami (5–29%) | W 1 chorobie |
| ACADMacyl-CoA dehydrogenase medium chain | Czasami (5–29%) | W 1 chorobie |
| ACADSacyl-CoA dehydrogenase short chain | Czasami (5–29%) | W 1 chorobie |
| ACAT1acetyl-CoA acetyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Czasami (5–29%) | W 1 chorobie |
| ACTL6Bactin like 6B | Czasami (5–29%) | W 1 chorobie |
| ADGRV1adhesion G protein-coupled receptor V1 | Czasami (5–29%) | W 1 chorobie |
| AKT1AKT serine/threonine kinase 1 | Czasami (5–29%) | W 1 chorobie |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Czasami (5–29%) | W 1 chorobie |
| AMACRalpha-methylacyl-CoA racemase | Czasami (5–29%) | W 2 chorobach |
| ANK1ankyrin 1 | Czasami (5–29%) | W 1 chorobie |
| ANOS1anosmin 1 | Czasami (5–29%) | W 2 chorobach |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Czasami (5–29%) | W 1 chorobie |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| APPamyloid beta precursor protein | Czasami (5–29%) | W 1 chorobie |
| ARCN1archain 1 coat protein complex I subunit delta | Czasami (5–29%) | W 1 chorobie |
| ARL6ARF like GTPase 6 | Czasami (5–29%) | W 2 chorobach |
| ATP10AATPase phospholipid transporting 10A (putative) | Czasami (5–29%) | W 1 chorobie |
| ATP6V1AATPase H+ transporting V1 subunit A | Czasami (5–29%) | W 1 chorobie |
| BAP1BRCA1 associated deubiquitinase 1 | Czasami (5–29%) | W 1 chorobie |
| BBIP1BBSome interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| BBS1Bardet-Biedl syndrome 1 | Czasami (5–29%) | W 2 chorobach |
| BBS10Bardet-Biedl syndrome 10 | Czasami (5–29%) | W 1 chorobie |
| BBS12Bardet-Biedl syndrome 12 | Czasami (5–29%) | W 1 chorobie |
| BBS2Bardet-Biedl syndrome 2 | Czasami (5–29%) | W 1 chorobie |
| BBS4Bardet-Biedl syndrome 4 | Czasami (5–29%) | W 1 chorobie |
| BBS5Bardet-Biedl syndrome 5 | Czasami (5–29%) | W 1 chorobie |
| BBS7Bardet-Biedl syndrome 7 | Czasami (5–29%) | W 1 chorobie |
| BBS9Bardet-Biedl syndrome 9 | Czasami (5–29%) | W 1 chorobie |
| BCKDKbranched chain keto acid dehydrogenase kinase | Czasami (5–29%) | W 1 chorobie |
| BOLA3bolA family member 3 | Czasami (5–29%) | W 1 chorobie |
| C4Acomplement C4A (Chido/Rodgers blood group) | Czasami (5–29%) | W 1 chorobie |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Czasami (5–29%) | W 1 chorobie |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Czasami (5–29%) | W 1 chorobie |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Czasami (5–29%) | W 1 chorobie |
| CCDC141coiled-coil domain containing 141 | Czasami (5–29%) | W 1 chorobie |
| CCR1C-C motif chemokine receptor 1 | Czasami (5–29%) | W 1 chorobie |
| CD4CD4 molecule | Czasami (5–29%) | W 1 chorobie |
| CDK19cyclin dependent kinase 19 | Czasami (5–29%) | W 1 chorobie |
| CELF2CUGBP Elav-like family member 2 | Czasami (5–29%) | W 1 chorobie |
| CEP164centrosomal protein 164 | Czasami (5–29%) | W 1 chorobie |
| CEP19centrosomal protein 19 | Czasami (5–29%) | W 1 chorobie |
| CFAP418cilia and flagella associated protein 418 | Czasami (5–29%) | W 1 chorobie |
| CHD2chromodomain helicase DNA binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| CHD7chromodomain helicase DNA binding protein 7 | Czasami (5–29%) | W 1 chorobie |
| CLPBClpB family mitochondrial disaggregase | Czasami (5–29%) | W 1 chorobie |
| CLTCclathrin heavy chain | Czasami (5–29%) | W 2 chorobach |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Czasami (5–29%) | W 1 chorobie |
| CPA6carboxypeptidase A6 | Czasami (5–29%) | W 1 chorobie |
| CRELD1CRELD disulfide isomerase 1 | Czasami (5–29%) | W 1 chorobie |
| CTDP1CTD phosphatase 1 | Czasami (5–29%) | W 2 chorobach |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Czasami (5–29%) | W 1 chorobie |
| DALRD3DALR anticodon binding domain containing 3 | Czasami (5–29%) | W 1 chorobie |
| DCCDCC netrin 1 receptor | Czasami (5–29%) | W 1 chorobie |
| DCHS1dachsous cadherin-related 1 | Czasami (5–29%) | W 1 chorobie |
| DDB2damage specific DNA binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Czasami (5–29%) | W 1 chorobie |
| DGUOKdeoxyguanosine kinase | Czasami (5–29%) | W 1 chorobie |
| DHX9DExH-box helicase 9 | Czasami (5–29%) | W 1 chorobie |
| DKC1dyskerin pseudouridine synthase 1 | Czasami (5–29%) | W 2 chorobach |
| DLDdihydrolipoamide dehydrogenase | Czasami (5–29%) | W 2 chorobach |
| DLL1delta like canonical Notch ligand 1 | Czasami (5–29%) | W 1 chorobie |
| DNASE1L3deoxyribonuclease 1L3 | Czasami (5–29%) | W 1 chorobie |
| DNM1dynamin 1 | Czasami (5–29%) | W 1 chorobie |
| DNM1Ldynamin 1L | Czasami (5–29%) | W 1 chorobie |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Czasami (5–29%) | W 2 chorobach |
| DUSP6dual specificity phosphatase 6 | Czasami (5–29%) | W 1 chorobie |
| EMX2empty spiracles homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| EPB42erythrocyte membrane protein band 4.2 | Czasami (5–29%) | W 1 chorobie |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Czasami (5–29%) | W 1 chorobie |
| ERLIN1ER lipid raft associated 1 | Czasami (5–29%) | W 1 chorobie |
| FASFas cell surface death receptor | Czasami (5–29%) | W 1 chorobie |
| FAT4FAT atypical cadherin 4 | Czasami (5–29%) | W 1 chorobie |
| FBXL4F-box and leucine rich repeat protein 4 | Czasami (5–29%) | W 1 chorobie |
| FBXO22F-box protein 22 | Czasami (5–29%) | W 1 chorobie |
| FBXO28F-box protein 28 | Czasami (5–29%) | W 1 chorobie |
| FBXW7F-box and WD repeat domain containing 7 | Czasami (5–29%) | W 1 chorobie |
| FEZF1FEZ family zinc finger 1 | Czasami (5–29%) | W 1 chorobie |
| FGF13fibroblast growth factor 13 | Czasami (5–29%) | W 1 chorobie |
| FGF17fibroblast growth factor 17 | Czasami (5–29%) | W 1 chorobie |
| FGF8fibroblast growth factor 8 | Czasami (5–29%) | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Czasami (5–29%) | W 1 chorobie |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Czasami (5–29%) | W 1 chorobie |
| FOXG1forkhead box G1 | Czasami (5–29%) | W 1 chorobie |
| FOXI1forkhead box I1 | Czasami (5–29%) | W 1 chorobie |
| FUSFUS RNA binding protein | Czasami (5–29%) | W 1 chorobie |
| FZR1fizzy and cell division cycle 20 related 1 | Czasami (5–29%) | W 1 chorobie |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Czasami (5–29%) | W 1 chorobie |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Czasami (5–29%) | W 1 chorobie |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Czasami (5–29%) | W 2 chorobach |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Czasami (5–29%) | W 1 chorobie |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Czasami (5–29%) | W 2 chorobach |
| GALTgalactose-1-phosphate uridylyltransferase | Czasami (5–29%) | W 1 chorobie |
| GBE11,4-alpha-glucan branching enzyme 1 | Czasami (5–29%) | W 1 chorobie |
| GCDHglutaryl-CoA dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| GCKglucokinase | Czasami (5–29%) | W 1 chorobie |
| GCLCglutamate-cysteine ligase catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| GGT1gamma-glutamyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| GJB1gap junction protein beta 1 | Czasami (5–29%) | W 1 chorobie |
| GLRX5glutaredoxin 5 | Czasami (5–29%) | W 1 chorobie |
| GMPPAGDP-mannose pyrophosphorylase A | Czasami (5–29%) | W 2 chorobach |
| GMPPBGDP-mannose pyrophosphorylase B | Czasami (5–29%) | W 1 chorobie |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Czasami (5–29%) | W 1 chorobie |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Czasami (5–29%) | W 1 chorobie |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| HESX1HESX homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| HIC1HIC ZBTB transcriptional repressor 1 | Czasami (5–29%) | W 1 chorobie |
| HIKESHIheat shock protein nuclear import factor hikeshi | Czasami (5–29%) | W 1 chorobie |
| HIVEP2HIVEP zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| HLA-Bmajor histocompatibility complex, class I, B | Czasami (5–29%) | W 2 chorobach |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Czasami (5–29%) | W 1 chorobie |
| HLCSholocarboxylase synthetase | Czasami (5–29%) | W 1 chorobie |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Czasami (5–29%) | W 1 chorobie |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Czasami (5–29%) | W 1 chorobie |
| HPD4-hydroxyphenylpyruvate dioxygenase | Czasami (5–29%) | W 1 chorobie |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| IFNGR1interferon gamma receptor 1 | Czasami (5–29%) | W 1 chorobie |
| IFT172intraflagellar transport 172 | Czasami (5–29%) | W 1 chorobie |
| IFT27intraflagellar transport 27 | Czasami (5–29%) | W 1 chorobie |
| IFT54intraflagellar transport 54 | Czasami (5–29%) | W 1 chorobie |
| IL10interleukin 10 | Czasami (5–29%) | W 1 chorobie |
| IL12Ainterleukin 12A | Czasami (5–29%) | W 1 chorobie |
| IL12A-AS1IL12A antisense RNA 1 | Czasami (5–29%) | W 1 chorobie |
| IL17RDinterleukin 17 receptor D | Czasami (5–29%) | W 1 chorobie |
| IL23Rinterleukin 23 receptor | Czasami (5–29%) | W 1 chorobie |
| INSinsulin | Czasami (5–29%) | W 1 chorobie |
| INVSinversin | Czasami (5–29%) | W 1 chorobie |
| IQCB1IQ motif containing B1 | Czasami (5–29%) | W 1 chorobie |
| IRF4interferon regulatory factor 4 | Czasami (5–29%) | W 1 chorobie |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNC1potassium voltage-gated channel subfamily C member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Czasami (5–29%) | W 2 chorobach |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Czasami (5–29%) | W 1 chorobie |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Czasami (5–29%) | W 1 chorobie |
| KDM4Blysine demethylase 4B | Czasami (5–29%) | W 1 chorobie |
| KDM5Alysine demethylase 5A | Czasami (5–29%) | W 1 chorobie |
| KIF5Akinesin family member 5A | Czasami (5–29%) | W 1 chorobie |
| KITKIT proto-oncogene, receptor tyrosine kinase | Czasami (5–29%) | W 1 chorobie |
| KLRC4killer cell lectin like receptor C4 | Czasami (5–29%) | W 1 chorobie |
| L1CAML1 cell adhesion molecule | Czasami (5–29%) | W 1 chorobie |
| LGI3leucine rich repeat LGI family member 3 | Czasami (5–29%) | W 1 chorobie |
| LONP1lon peptidase 1, mitochondrial | Czasami (5–29%) | W 2 chorobach |
| LRP12LDL receptor related protein 12 | Czasami (5–29%) | W 1 chorobie |
| LYRM7LYR motif containing 7 | Czasami (5–29%) | W 1 chorobie |
| LYSTlysosomal trafficking regulator | Czasami (5–29%) | W 2 chorobach |
| LZTFL1leucine zipper transcription factor like 1 | Czasami (5–29%) | W 1 chorobie |
| MAN1B1mannosidase alpha class 1B member 1 | Czasami (5–29%) | W 1 chorobie |
| MAP2K1mitogen-activated protein kinase kinase 1 | Czasami (5–29%) | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Czasami (5–29%) | W 1 chorobie |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Czasami (5–29%) | W 2 chorobach |
| MED13Lmediator complex subunit 13L | Czasami (5–29%) | W 2 chorobach |
| MEFVMEFV innate immunity regulator, pyrin | Czasami (5–29%) | W 1 chorobie |
| MKKSMKKS centrosomal shuttling protein | Czasami (5–29%) | W 1 chorobie |
| MMACHCmetabolism of cobalamin associated C | Czasami (5–29%) | W 1 chorobie |
| MORC2MORC family CW-type zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| MT-CYBmitochondrially encoded cytochrome b | Czasami (5–29%) | W 2 chorobach |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Czasami (5–29%) | W 2 chorobach |
| MTO1mitochondrial tRNA translation optimization 1 | Czasami (5–29%) | W 1 chorobie |
| MTTPmicrosomal triglyceride transfer protein | Czasami (5–29%) | W 2 chorobach |
| MYD88MYD88 innate immune signal transduction adaptor | Czasami (5–29%) | W 1 chorobie |
| NALCNsodium leak channel, non-selective | Czasami (5–29%) | W 1 chorobie |
| NAXDNAD(P)HX dehydratase | Czasami (5–29%) | W 2 chorobach |
| NDNFneuron derived neurotrophic factor | Czasami (5–29%) | W 1 chorobie |
| NDST1N-deacetylase and N-sulfotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| NECAP1NECAP endocytosis associated 1 | Czasami (5–29%) | W 1 chorobie |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Czasami (5–29%) | W 1 chorobie |
| NEXMIFneurite extension and migration factor | Czasami (5–29%) | W 2 chorobach |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Czasami (5–29%) | W 2 chorobach |
| NIPA1NIPA magnesium transporter 1 | Czasami (5–29%) | W 1 chorobie |
| NIPA2NIPA magnesium transporter 2 | Czasami (5–29%) | W 1 chorobie |
| NPHP3nephrocystin 3 | Czasami (5–29%) | W 1 chorobie |
| NPHP4nephrocystin 4 | Czasami (5–29%) | W 1 chorobie |
| NRASNRAS proto-oncogene, GTPase | Czasami (5–29%) | W 1 chorobie |
| NRCAMneuronal cell adhesion molecule | Czasami (5–29%) | W 1 chorobie |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Czasami (5–29%) | W 1 chorobie |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Czasami (5–29%) | W 1 chorobie |
| OCA2OCA2 melanosomal transmembrane protein | Czasami (5–29%) | W 1 chorobie |
| OTUD6BOTU deubiquitinase 6B | Czasami (5–29%) | W 1 chorobie |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Czasami (5–29%) | W 1 chorobie |
| PACS2phosphofurin acidic cluster sorting protein 2 | Czasami (5–29%) | W 1 chorobie |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Czasami (5–29%) | W 1 chorobie |
| PARNpoly(A)-specific ribonuclease | Czasami (5–29%) | W 2 chorobach |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| PDGFBplatelet derived growth factor subunit B | Czasami (5–29%) | W 1 chorobie |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Czasami (5–29%) | W 1 chorobie |
| PDHBpyruvate dehydrogenase E1 subunit beta | Czasami (5–29%) | W 1 chorobie |
| PDX1pancreatic and duodenal homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| PGAP2post-GPI attachment to proteins 2 | Czasami (5–29%) | W 1 chorobie |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Czasami (5–29%) | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Czasami (5–29%) | W 1 chorobie |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Czasami (5–29%) | W 1 chorobie |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Czasami (5–29%) | W 1 chorobie |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Czasami (5–29%) | W 1 chorobie |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Czasami (5–29%) | W 1 chorobie |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Czasami (5–29%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PMPCBpeptidase, mitochondrial processing subunit beta | Czasami (5–29%) | W 1 chorobie |
| PPIBpeptidylprolyl isomerase B | Czasami (5–29%) | W 1 chorobie |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Czasami (5–29%) | W 1 chorobie |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PRDM8PR/SET domain 8 | Czasami (5–29%) | W 2 chorobach |
| PROK2prokineticin 2 | Czasami (5–29%) | W 1 chorobie |
| PROKR2prokineticin receptor 2 | Czasami (5–29%) | W 1 chorobie |
| PRRT2proline rich transmembrane protein 2 | Czasami (5–29%) | W 2 chorobach |
| PSAPprosaposin | Czasami (5–29%) | W 1 chorobie |
| PSEN1presenilin 1 | Czasami (5–29%) | W 1 chorobie |
| PSEN2presenilin 2 | Czasami (5–29%) | W 1 chorobie |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Czasami (5–29%) | W 1 chorobie |
| PTS6-pyruvoyltetrahydropterin synthase | Czasami (5–29%) | W 2 chorobach |
| PURApurine rich element binding protein A | Czasami (5–29%) | W 1 chorobie |
| PYCR2pyrroline-5-carboxylate reductase 2 | Czasami (5–29%) | W 1 chorobie |
| RFC4replication factor C subunit 4 | Czasami (5–29%) | W 1 chorobie |
| RFT1RFT1 glycolipid translocator homolog | Czasami (5–29%) | W 2 chorobach |
| RNASET2ribonuclease T2 | Czasami (5–29%) | W 1 chorobie |
| RNF168ring finger protein 168 | Czasami (5–29%) | W 2 chorobach |
| RNU5B-1RNA, U5B small nuclear 1 | Czasami (5–29%) | W 1 chorobie |
| RRM1ribonucleotide reductase catalytic subunit M1 | Czasami (5–29%) | W 1 chorobie |
| RRP12ribosomal RNA processing 12 homolog | Czasami (5–29%) | W 1 chorobie |
| RTEL1regulator of telomere elongation helicase 1 | Czasami (5–29%) | W 1 chorobie |
| RYR1ryanodine receptor 1 | Czasami (5–29%) | W 1 chorobie |
| SARDHsarcosine dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| SATB1SATB homeobox 1 | Czasami (5–29%) | W 2 chorobach |
| SCAPERS-phase cyclin A associated protein in the ER | Czasami (5–29%) | W 1 chorobie |
| SCLT1sodium channel and clathrin linker 1 | Czasami (5–29%) | W 1 chorobie |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Czasami (5–29%) | W 1 chorobie |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Czasami (5–29%) | W 1 chorobie |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Czasami (5–29%) | W 1 chorobie |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Czasami (5–29%) | W 2 chorobach |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Czasami (5–29%) | W 1 chorobie |
| SEMA3Asemaphorin 3A | Czasami (5–29%) | W 1 chorobie |
| SGPL1sphingosine-1-phosphate lyase 1 | Czasami (5–29%) | W 1 chorobie |
| SIGMAR1sigma receptor chaperone 1 | Czasami (5–29%) | W 1 chorobie |
| SLC13A5solute carrier family 13 member 5 | Czasami (5–29%) | W 2 chorobach |
| SLC19A2solute carrier family 19 member 2 | Czasami (5–29%) | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Czasami (5–29%) | W 1 chorobie |
| SLC25A4solute carrier family 25 member 4 | Czasami (5–29%) | W 1 chorobie |
| SLC26A4solute carrier family 26 member 4 | Czasami (5–29%) | W 1 chorobie |
| SLC32A1solute carrier family 32 member 1 | Czasami (5–29%) | W 1 chorobie |
| SLC35C1solute carrier family 35 member C1 | Czasami (5–29%) | W 1 chorobie |
| SLC38A3solute carrier family 38 member 3 | Czasami (5–29%) | W 1 chorobie |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Czasami (5–29%) | W 1 chorobie |
| SLC52A3solute carrier family 52 member 3 | Czasami (5–29%) | W 1 chorobie |
| SLC6A1solute carrier family 6 member 1 | Czasami (5–29%) | W 3 chorobach |
| SLC6A11solute carrier family 6 member 11 | Czasami (5–29%) | W 1 chorobie |
| SMAD4SMAD family member 4 | Czasami (5–29%) | W 1 chorobie |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Czasami (5–29%) | W 1 chorobie |
| SMOsmoothened, frizzled class receptor | Czasami (5–29%) | W 1 chorobie |
| SNAI2snail family transcriptional repressor 2 | Czasami (5–29%) | W 1 chorobie |
| SNF8SNF8 subunit of ESCRT-II | Czasami (5–29%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Czasami (5–29%) | W 1 chorobie |
| SORDsorbitol dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| SORL1sortilin related receptor 1 | Czasami (5–29%) | W 1 chorobie |
| SPENspen family transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| SPRY4sprouty RTK signaling antagonist 4 | Czasami (5–29%) | W 1 chorobie |
| SPTA1spectrin alpha, erythrocytic 1 | Czasami (5–29%) | W 1 chorobie |
| SPTBspectrin beta, erythrocytic | Czasami (5–29%) | W 1 chorobie |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Czasami (5–29%) | W 1 chorobie |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Czasami (5–29%) | W 1 chorobie |
| STAT3signal transducer and activator of transcription 3 | Czasami (5–29%) | W 1 chorobie |
| STAT4signal transducer and activator of transcription 4 | Czasami (5–29%) | W 1 chorobie |
| STX1Bsyntaxin 1B | Czasami (5–29%) | W 1 chorobie |
| STXBP1syntaxin binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Czasami (5–29%) | W 1 chorobie |
| SYT1synaptotagmin 1 | Czasami (5–29%) | W 2 chorobach |
| SZT2SZT2 subunit of KICSTOR complex | Czasami (5–29%) | W 1 chorobie |
| TACR3tachykinin receptor 3 | Czasami (5–29%) | W 1 chorobie |
| TAF1TATA-box binding protein associated factor 1 | Czasami (5–29%) | W 1 chorobie |
| TARDBPTAR DNA binding protein | Czasami (5–29%) | W 1 chorobie |
| TATtyrosine aminotransferase | Czasami (5–29%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Czasami (5–29%) | W 2 chorobach |
| TELO2telomere maintenance 2 | Czasami (5–29%) | W 2 chorobach |
| TERCtelomerase RNA component | Czasami (5–29%) | W 2 chorobach |
| TERTtelomerase reverse transcriptase | Czasami (5–29%) | W 3 chorobach |
| TGFB1transforming growth factor beta 1 | Czasami (5–29%) | W 1 chorobie |
| TINF2TERF1 interacting nuclear factor 2 | Czasami (5–29%) | W 5 chorobach |
| TK2thymidine kinase 2 | Czasami (5–29%) | W 1 chorobie |
| TLR4toll like receptor 4 | Czasami (5–29%) | W 1 chorobie |
| TOMM40translocase of outer mitochondrial membrane 40 | Czasami (5–29%) | W 1 chorobie |
| TRAF7TNF receptor associated factor 7 | Czasami (5–29%) | W 1 chorobie |
| TRAK1trafficking kinesin protein 1 | Czasami (5–29%) | W 1 chorobie |
| TRAPPC11trafficking protein particle complex subunit 11 | Czasami (5–29%) | W 2 chorobach |
| TREM2triggering receptor expressed on myeloid cells 2 | Czasami (5–29%) | W 1 chorobie |
| TRIM32tripartite motif containing 32 | Czasami (5–29%) | W 1 chorobie |
| TRMT2BtRNA methyltransferase 2B | Czasami (5–29%) | W 1 chorobie |
| TTC19tetratricopeptide repeat domain 19 | Czasami (5–29%) | W 1 chorobie |
| TTC8tetratricopeptide repeat domain 8 | Czasami (5–29%) | W 1 chorobie |
| TUBA1Atubulin alpha 1a | Czasami (5–29%) | W 2 chorobach |
| TUBB3tubulin beta 3 class III | Czasami (5–29%) | W 1 chorobie |
| TUBG1tubulin gamma 1 | Czasami (5–29%) | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Czasami (5–29%) | W 1 chorobie |
| UBAC2UBA domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| UBQLN2ubiquilin 2 | Czasami (5–29%) | W 1 chorobie |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Czasami (5–29%) | W 1 chorobie |
| UFSP2UFM1 specific peptidase 2 | Czasami (5–29%) | W 1 chorobie |
| WARS1tryptophanyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| WDPCPWD repeat containing planar cell polarity effector | Czasami (5–29%) | W 1 chorobie |
| WDR11WD repeat domain 11 | Czasami (5–29%) | W 1 chorobie |
| WDR19WD repeat domain 19 | Czasami (5–29%) | W 1 chorobie |
| XPAXPA, DNA damage recognition and repair factor | Czasami (5–29%) | W 2 chorobach |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Czasami (5–29%) | W 1 chorobie |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Czasami (5–29%) | W 1 chorobie |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Czasami (5–29%) | W 2 chorobach |
| ALKALK receptor tyrosine kinase | Rzadko (1–4%) | W 1 chorobie |
| ALMS1ALMS1 centrosome and basal body associated protein | Rzadko (1–4%) | W 1 chorobie |
| BMP15bone morphogenetic protein 15 | Rzadko (1–4%) | W 1 chorobie |
| BNC1basonuclin zinc finger protein 1 | Rzadko (1–4%) | W 1 chorobie |
| CTCFCCCTC-binding factor | Rzadko (1–4%) | W 1 chorobie |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Rzadko (1–4%) | W 1 chorobie |
| EXOSC3exosome component 3 | Rzadko (1–4%) | W 1 chorobie |
| EXOSC8exosome component 8 | Rzadko (1–4%) | W 1 chorobie |
| EXOSC9exosome component 9 | Rzadko (1–4%) | W 1 chorobie |
| FIGLAfolliculogenesis specific bHLH transcription factor | Rzadko (1–4%) | W 1 chorobie |
| FSHRfollicle stimulating hormone receptor | Rzadko (1–4%) | W 1 chorobie |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Rzadko (1–4%) | W 1 chorobie |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Rzadko (1–4%) | W 1 chorobie |
| LMO1LIM domain only 1 | Rzadko (1–4%) | W 1 chorobie |
| MRPS22mitochondrial ribosomal protein S22 | Rzadko (1–4%) | W 1 chorobie |
| MSH4mutS homolog 4 | Rzadko (1–4%) | W 1 chorobie |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Rzadko (1–4%) | W 1 chorobie |
| NAGSN-acetylglutamate synthase | Rzadko (1–4%) | W 1 chorobie |
| NEFLneurofilament light chain | Rzadko (1–4%) | W 1 chorobie |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Rzadko (1–4%) | W 1 chorobie |
| NUP107nucleoporin 107 | Rzadko (1–4%) | W 1 chorobie |
| PHOX2Bpaired like homeobox 2B | Rzadko (1–4%) | W 1 chorobie |
| POLR3HRNA polymerase III subunit H | Rzadko (1–4%) | W 1 chorobie |
| PSMC3IPPSMC3 interacting protein | Rzadko (1–4%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Rzadko (1–4%) | W 1 chorobie |
| SPASTspastin | Rzadko (1–4%) | W 1 chorobie |
| SPIDRscaffold protein involved in DNA repair | Rzadko (1–4%) | W 1 chorobie |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rzadko (1–4%) | W 1 chorobie |
| STARD7StAR related lipid transfer domain containing 7 | Rzadko (1–4%) | W 1 chorobie |
| ZSWIM7zinc finger SWIM-type containing 7 | Rzadko (1–4%) | W 1 chorobie |
| ADA2adenosine deaminase 2 | Nie odnotowano | W 1 chorobie |
| APOBapolipoprotein B | Nie odnotowano | W 1 chorobie |
| ARSAarylsulfatase A | Nie odnotowano | W 1 chorobie |
| ASS1argininosuccinate synthase 1 | Nie odnotowano | W 1 chorobie |
| ATAD3AATPase family AAA domain containing 3A | Nie odnotowano | W 1 chorobie |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Nie odnotowano | W 1 chorobie |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Nie odnotowano | W 1 chorobie |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Nie odnotowano | W 1 chorobie |
| BEAN1brain expressed associated with NEDD4 1 | Nie odnotowano | W 1 chorobie |
| C19orf12chromosome 19 open reading frame 12 | Nie odnotowano | W 1 chorobie |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Nie odnotowano | W 1 chorobie |
| CCDC28Bcoiled-coil domain containing 28B | Nie odnotowano | W 1 chorobie |
| CLN5CLN5 lysosomal BMP synthase | Nie odnotowano | W 1 chorobie |
| COQ2coenzyme Q2, polyprenyltransferase | Nie odnotowano | W 2 chorobach |
| CPS1carbamoyl-phosphate synthase 1 | Nie odnotowano | W 1 chorobie |
| CSF1Rcolony stimulating factor 1 receptor | Nie odnotowano | W 1 chorobie |
| CTC1CST telomere replication complex component 1 | Nie odnotowano | W 1 chorobie |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| DCXdoublecortin | Nie odnotowano | W 1 chorobie |
| DHFRdihydrofolate reductase | Nie odnotowano | W 1 chorobie |
| DNAJC5DnaJ heat shock protein family (Hsp40) member C5 | Nie odnotowano | W 1 chorobie |
| EDNRBendothelin receptor type B | Nie odnotowano | W 1 chorobie |
| ELOVL4ELOVL fatty acid elongase 4 | Nie odnotowano | W 1 chorobie |
| FA2Hfatty acid 2-hydroxylase | Nie odnotowano | W 1 chorobie |
| FRMD4AFERM domain containing 4A | Nie odnotowano | W 1 chorobie |
| FTLferritin light chain | Nie odnotowano | W 1 chorobie |
| FXNfrataxin | Nie odnotowano | W 2 chorobach |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Nie odnotowano | W 1 chorobie |
| GPIglucose-6-phosphate isomerase | Nie odnotowano | W 1 chorobie |
| GSSglutathione synthetase | Nie odnotowano | W 1 chorobie |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Nie odnotowano | W 1 chorobie |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Nie odnotowano | W 1 chorobie |
| HTRA1HtrA serine peptidase 1 | Nie odnotowano | W 1 chorobie |
| IFT140intraflagellar transport 140 | Nie odnotowano | W 1 chorobie |
| ITM2Bintegral membrane protein 2B | Nie odnotowano | W 1 chorobie |
| KIF1Bkinesin family member 1B | Nie odnotowano | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Nie odnotowano | W 2 chorobach |
| MFSD8major facilitator superfamily domain containing 8 | Nie odnotowano | W 1 chorobie |
| MPDU1mannose-P-dolichol utilization defect 1 | Nie odnotowano | W 1 chorobie |
| MPV17mitochondrial inner membrane protein MPV17 | Nie odnotowano | W 1 chorobie |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Nie odnotowano | W 1 chorobie |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Nie odnotowano | W 1 chorobie |
| NANSN-acetylneuraminate synthase | Nie odnotowano | W 1 chorobie |
| NFASCneurofascin | Nie odnotowano | W 1 chorobie |
| NPC1NPC intracellular cholesterol transporter 1 | Nie odnotowano | W 1 chorobie |
| NPC2NPC intracellular cholesterol transporter 2 | Nie odnotowano | W 1 chorobie |
| NUP214nucleoporin 214 | Nie odnotowano | W 1 chorobie |
| OTCornithine transcarbamylase | Nie odnotowano | W 1 chorobie |
| OXR1oxidation resistance 1 | Nie odnotowano | W 1 chorobie |
| PANK2pantothenate kinase 2 | Nie odnotowano | W 1 chorobie |
| PDHXpyruvate dehydrogenase complex component X | Nie odnotowano | W 1 chorobie |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Nie odnotowano | W 1 chorobie |
| PPT1palmitoyl-protein thioesterase 1 | Nie odnotowano | W 1 chorobie |
| RNASEH1ribonuclease H1 | Nie odnotowano | W 1 chorobie |
| ROGDIrogdi atypical leucine zipper | Nie odnotowano | W 1 chorobie |
| RPIAribose 5-phosphate isomerase A | Nie odnotowano | W 1 chorobie |
| SLC12A3solute carrier family 12 member 3 | Nie odnotowano | W 1 chorobie |
| SLC17A5solute carrier family 17 member 5 | Nie odnotowano | W 1 chorobie |
| SLC25A42solute carrier family 25 member 42 | Nie odnotowano | W 1 chorobie |
| SLC35A1solute carrier family 35 member A1 | Nie odnotowano | W 1 chorobie |
| SLC39A4solute carrier family 39 member 4 | Nie odnotowano | W 1 chorobie |
| SLC46A1solute carrier family 46 member 1 | Nie odnotowano | W 1 chorobie |
| SLC52A2solute carrier family 52 member 2 | Nie odnotowano | W 1 chorobie |
| SUMF1sulfatase modifying factor 1 | Nie odnotowano | W 1 chorobie |
| SUOXsulfite oxidase | Nie odnotowano | W 1 chorobie |
| TBC1D23TBC1 domain family member 23 | Nie odnotowano | W 1 chorobie |
| TCN2transcobalamin 2 | Nie odnotowano | W 1 chorobie |
| TMEM107transmembrane protein 107 | Nie odnotowano | W 2 chorobach |
| TMEM70transmembrane protein 70 | Nie odnotowano | W 1 chorobie |
| TNPO2transportin 2 | Nie odnotowano | W 1 chorobie |
| TPK1thiamin pyrophosphokinase 1 | Nie odnotowano | W 1 chorobie |
| TRPC3transient receptor potential cation channel subfamily C member 3 | Nie odnotowano | W 1 chorobie |
| TSFMTs translation elongation factor, mitochondrial | Nie odnotowano | W 1 chorobie |
| VWA3Bvon Willebrand factor A domain containing 3B | Nie odnotowano | W 1 chorobie |
| ZFYVE26zinc finger FYVE-type containing 26 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
- Inability to coordinate movements when walking271 genów
- Lack of coordination of movement179 genów
- Limb ataxia92 genów
- Instability or lack of coordination of central trunk muscles87 genów
- Difficulty performing quick and alternating movements68 genów
- Progressive cerebellar ataxia65 genów
- Episodic ataxia36 genów
- Spastic ataxia21 genów
- Nonprogressive cerebellar ataxia10 genów
- Cerebellar ataxia associated with quadrupedal gait4 genów
- Optic ataxia2 genów
- Dyssynergia1 gen
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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