Cecha
Optic atrophy
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Podsumowanie
- Znana także jako
- Optic nerve atrophy, Optic-nerve degeneration
- Układ organizmu
- Abnormality of the eye
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Optic atrophy, and the rest of your genome, with one test.
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Zamawiam Genome Test652 genów powiązanych z Optic atrophy
Zmiany w tych genach powodują rzadkie choroby, w których występuje Optic atrophy. 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 |
|---|---|---|
| ACO2aconitase 2 | Zawsze | W 2 chorobach |
| ADAM22ADAM metallopeptidase domain 22 | Zawsze | W 1 chorobie |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Zawsze | W 1 chorobie |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Zawsze | W 1 chorobie |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Zawsze | W 1 chorobie |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Zawsze | W 1 chorobie |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Zawsze | W 3 chorobach |
| BORCS8BLOC-1 related complex subunit 8 | Zawsze | W 1 chorobie |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Zawsze | W 1 chorobie |
| CFAP410cilia and flagella associated protein 410 | Zawsze | W 1 chorobie |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Zawsze | W 1 chorobie |
| CISD2CDGSH iron sulfur domain 2 | Zawsze | W 2 chorobach |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Zawsze | W 1 chorobie |
| COX15cytochrome c oxidase assembly factor COX15 | Zawsze | W 1 chorobie |
| COX6B1cytochrome c oxidase subunit 6B1 | Zawsze | W 1 chorobie |
| DNM1Ldynamin 1L | Zawsze | W 3 chorobach |
| DNMT1DNA methyltransferase 1 | Zawsze | W 2 chorobach |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Zawsze | W 1 chorobie |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Zawsze | W 1 chorobie |
| EPG5ectopic P-granules 5 autophagy tethering factor | Zawsze | W 2 chorobach |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Zawsze | W 4 chorobach |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Zawsze | W 1 chorobie |
| FDXRferredoxin reductase | Zawsze | W 3 chorobach |
| FGFR2fibroblast growth factor receptor 2 | Zawsze | W 6 chorobach |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Zawsze | W 1 chorobie |
| GRNgranulin precursor | Zawsze | W 1 chorobie |
| GTPBP2GTP binding protein 2 | Zawsze | W 1 chorobie |
| HMBShydroxymethylbilane synthase | Zawsze | W 1 chorobie |
| INTS11integrator complex subunit 11 | Zawsze | W 1 chorobie |
| ISCA2iron-sulfur cluster assembly 2 | Zawsze | W 2 chorobach |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Zawsze | W 1 chorobie |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Zawsze | W 1 chorobie |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Zawsze | W 3 chorobach |
| MFN2mitofusin 2 | Zawsze | W 4 chorobach |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Zawsze | W 1 chorobie |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Zawsze | W 1 chorobie |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Zawsze | W 3 chorobach |
| MTPAPmitochondrial poly(A) polymerase | Zawsze | W 2 chorobach |
| MTRFRmitochondrial translation release factor in rescue | Zawsze | W 4 chorobach |
| NADK2NAD kinase 2, mitochondrial | Zawsze | W 1 chorobie |
Pokaż jeszcze 612 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| NALCNsodium leak channel, non-selective | Zawsze | W 1 chorobie |
| NBASNBAS subunit of NRZ tethering complex | Zawsze | W 1 chorobie |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Zawsze | W 1 chorobie |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Zawsze | W 1 chorobie |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Zawsze | W 3 chorobach |
| OPA1OPA1 mitochondrial dynamin like GTPase | Zawsze | W 6 chorobach |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Zawsze | W 3 chorobach |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Zawsze | W 1 chorobie |
| PDXKpyridoxal kinase | Zawsze | W 1 chorobie |
| PLAAphospholipase A2 activating protein | Zawsze | W 2 chorobach |
| PLP1proteolipid protein 1 | Zawsze | W 4 chorobach |
| POLG2DNA polymerase gamma 2, accessory subunit | Zawsze | W 1 chorobie |
| POLR3BRNA polymerase III subunit B | Zawsze | W 2 chorobach |
| PTCD3pentatricopeptide repeat domain 3 | Zawsze | W 1 chorobie |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Zawsze | W 1 chorobie |
| RAB18RAB18, member RAS oncogene family | Zawsze | W 2 chorobach |
| RNF170ring finger protein 170 | Zawsze | W 1 chorobie |
| SCO1synthesis of cytochrome C oxidase 1 | Zawsze | W 1 chorobie |
| SCO2synthesis of cytochrome C oxidase 2 | Zawsze | W 1 chorobie |
| SCYL2SCY1 like pseudokinase 2 | Zawsze | W 1 chorobie |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Zawsze | W 2 chorobach |
| SEC31ASEC31 homolog A, COPII component | Zawsze | W 1 chorobie |
| SLC25A19solute carrier family 25 member 19 | Zawsze | W 2 chorobach |
| SLC30A9solute carrier family 30 member 9 | Zawsze | W 1 chorobie |
| SLC44A1solute carrier family 44 member 1 | Zawsze | W 1 chorobie |
| SNAPINSNAP associated protein | Zawsze | W 1 chorobie |
| SNX10sorting nexin 10 | Zawsze | W 1 chorobie |
| SOSTsclerostin | Zawsze | W 4 chorobach |
| SSBP1single stranded DNA binding protein 1 | Zawsze | W 1 chorobie |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Zawsze | W 2 chorobach |
| SURF1SURF1 cytochrome c oxidase assembly factor | Zawsze | W 1 chorobie |
| SV2Asynaptic vesicle glycoprotein 2A | Zawsze | W 1 chorobie |
| TACO1translational activator of cytochrome c oxidase I | Zawsze | W 2 chorobach |
| TFGtrafficking from ER to golgi regulator | Zawsze | W 2 chorobach |
| UCHL1ubiquitin C-terminal hydrolase L1 | Zawsze | W 2 chorobach |
| YME1L1YME1 like 1 ATPase | Zawsze | W 1 chorobie |
| ABCA4ATP binding cassette subfamily A member 4 | Bardzo często (80–99%) | W 1 chorobie |
| AGBL5AGBL carboxypeptidase 5 | Bardzo często (80–99%) | W 1 chorobie |
| AHI1Abelson helper integration site 1 | Bardzo często (80–99%) | W 1 chorobie |
| AHRaryl hydrocarbon receptor | Bardzo często (80–99%) | W 1 chorobie |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Bardzo często (80–99%) | W 1 chorobie |
| ARL2BPARF like GTPase 2 binding protein | Bardzo często (80–99%) | W 1 chorobie |
| ARL3ARF like GTPase 3 | Bardzo często (80–99%) | W 1 chorobie |
| ARL6ARF like GTPase 6 | Bardzo często (80–99%) | W 1 chorobie |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Bardzo często (80–99%) | W 2 chorobach |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| BBS1Bardet-Biedl syndrome 1 | Bardzo często (80–99%) | W 1 chorobie |
| BBS2Bardet-Biedl syndrome 2 | Bardzo często (80–99%) | W 1 chorobie |
| BCL11ABCL11 transcription factor A | Bardzo często (80–99%) | W 1 chorobie |
| BEST1bestrophin 1 | Bardzo często (80–99%) | W 1 chorobie |
| C19orf12chromosome 19 open reading frame 12 | Bardzo często (80–99%) | W 2 chorobach |
| CA4carbonic anhydrase 4 | Bardzo często (80–99%) | W 1 chorobie |
| CC2D2Acoiled-coil and C2 domain containing 2A | Bardzo często (80–99%) | W 2 chorobach |
| CDHR1cadherin related family member 1 | Bardzo często (80–99%) | W 1 chorobie |
| CERKLCERK like autophagy regulator | Bardzo często (80–99%) | W 1 chorobie |
| CFAP20cilia and flagella associated protein 20 | Bardzo często (80–99%) | W 1 chorobie |
| CFAP418cilia and flagella associated protein 418 | Bardzo często (80–99%) | W 1 chorobie |
| CLRN1clarin 1 | Bardzo często (80–99%) | W 1 chorobie |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Bardzo często (80–99%) | W 1 chorobie |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Bardzo często (80–99%) | W 1 chorobie |
| COL4A1collagen type IV alpha 1 chain | Bardzo często (80–99%) | W 1 chorobie |
| COQ8Bcoenzyme Q8B | Bardzo często (80–99%) | W 1 chorobie |
| CRB1crumbs cell polarity complex component 1 | Bardzo często (80–99%) | W 1 chorobie |
| CRPPACDP-L-ribitol pyrophosphorylase A | Bardzo często (80–99%) | W 2 chorobach |
| CRXcone-rod homeobox | Bardzo często (80–99%) | W 1 chorobie |
| DAG1dystroglycan 1 | Bardzo często (80–99%) | W 1 chorobie |
| DDB2damage specific DNA binding protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Bardzo często (80–99%) | W 2 chorobach |
| DHX38DEAH-box helicase 38 | 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 |
| ERCC5ERCC excision repair 5, endonuclease | Bardzo często (80–99%) | W 3 chorobach |
| EYSEGF-like photoreceptor maintenance factor | Bardzo często (80–99%) | W 1 chorobie |
| FAM161AFAM161 centrosomal protein A | Bardzo często (80–99%) | W 1 chorobie |
| FKRPfukutin related protein | Bardzo często (80–99%) | W 4 chorobach |
| FKTNfukutin | Bardzo często (80–99%) | W 5 chorobach |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| FSCN2fascin actin-bundling protein 2, retinal | Bardzo często (80–99%) | W 2 chorobach |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Bardzo często (80–99%) | W 1 chorobie |
| GMPPBGDP-mannose pyrophosphorylase B | Bardzo często (80–99%) | W 2 chorobach |
| GUCA1Bguanylate cyclase activator 1B | Bardzo często (80–99%) | W 1 chorobie |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Bardzo często (80–99%) | W 1 chorobie |
| HKDC1hexokinase domain containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Bardzo często (80–99%) | W 1 chorobie |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Bardzo często (80–99%) | W 1 chorobie |
| IFT140intraflagellar transport 140 | Bardzo często (80–99%) | W 2 chorobach |
| IFT172intraflagellar transport 172 | Bardzo często (80–99%) | W 1 chorobie |
| IFT43intraflagellar transport 43 | Bardzo często (80–99%) | W 1 chorobie |
| IFT88intraflagellar transport 88 | Bardzo często (80–99%) | W 1 chorobie |
| IMPDH1inosine monophosphate dehydrogenase 1 | Bardzo często (80–99%) | W 1 chorobie |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Bardzo często (80–99%) | W 1 chorobie |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Bardzo często (80–99%) | W 1 chorobie |
| KIAA1549KIAA1549 | Bardzo często (80–99%) | W 1 chorobie |
| KIZkizuna centrosomal protein | Bardzo często (80–99%) | W 1 chorobie |
| KLC2kinesin light chain 2 | Bardzo często (80–99%) | W 2 chorobach |
| KLHL7kelch like family member 7 | Bardzo często (80–99%) | W 1 chorobie |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Bardzo często (80–99%) | W 4 chorobach |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| LRATlecithin retinol acyltransferase | Bardzo często (80–99%) | W 1 chorobie |
| MAKmale germ cell associated kinase | Bardzo często (80–99%) | W 1 chorobie |
| MERTKMER proto-oncogene, tyrosine kinase | Bardzo często (80–99%) | W 1 chorobie |
| NEK2NIMA related kinase 2 | Bardzo często (80–99%) | W 1 chorobie |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Bardzo często (80–99%) | W 1 chorobie |
| NRLneural retina leucine zipper | Bardzo często (80–99%) | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Bardzo często (80–99%) | W 1 chorobie |
| PAX6paired box 6 | Bardzo często (80–99%) | W 1 chorobie |
| PCAREphotoreceptor cilium actin regulator | Bardzo często (80–99%) | W 1 chorobie |
| PDE6Aphosphodiesterase 6A | Bardzo często (80–99%) | W 1 chorobie |
| PDE6Bphosphodiesterase 6B | Bardzo często (80–99%) | W 1 chorobie |
| PDE6Gphosphodiesterase 6G | Bardzo często (80–99%) | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Bardzo często (80–99%) | W 4 chorobach |
| PEX10peroxisomal biogenesis factor 10 | Bardzo często (80–99%) | W 3 chorobach |
| PEX11Bperoxisomal biogenesis factor 11 beta | Bardzo często (80–99%) | W 3 chorobach |
| PEX12peroxisomal biogenesis factor 12 | Bardzo często (80–99%) | W 3 chorobach |
| PEX13peroxisomal biogenesis factor 13 | Bardzo często (80–99%) | W 3 chorobach |
| PEX14peroxisomal biogenesis factor 14 | Bardzo często (80–99%) | W 3 chorobach |
| PEX16peroxisomal biogenesis factor 16 | Bardzo często (80–99%) | W 4 chorobach |
| PEX19peroxisomal biogenesis factor 19 | Bardzo często (80–99%) | W 3 chorobach |
| PEX2peroxisomal biogenesis factor 2 | Bardzo często (80–99%) | W 4 chorobach |
| PEX26peroxisomal biogenesis factor 26 | Bardzo często (80–99%) | W 3 chorobach |
| PEX3peroxisomal biogenesis factor 3 | Bardzo często (80–99%) | W 3 chorobach |
| PEX5peroxisomal biogenesis factor 5 | Bardzo często (80–99%) | W 3 chorobach |
| PEX6peroxisomal biogenesis factor 6 | Bardzo często (80–99%) | W 5 chorobach |
| PNPLA6patatin like domain 6, lysophospholipase | Bardzo często (80–99%) | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Bardzo często (80–99%) | W 6 chorobach |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Bardzo często (80–99%) | W 1 chorobie |
| POMKprotein O-mannose kinase | Bardzo często (80–99%) | W 2 chorobach |
| POMT1protein O-mannosyltransferase 1 | Bardzo często (80–99%) | W 4 chorobach |
| POMT2protein O-mannosyltransferase 2 | Bardzo często (80–99%) | W 4 chorobach |
| PPIBpeptidylprolyl isomerase B | Bardzo często (80–99%) | W 1 chorobie |
| PRCDphotoreceptor disc component | Bardzo często (80–99%) | W 1 chorobie |
| PROM1prominin 1 | Bardzo często (80–99%) | W 1 chorobie |
| PRPF3pre-mRNA processing factor 3 | Bardzo często (80–99%) | W 1 chorobie |
| PRPF31pre-mRNA processing factor 31 | Bardzo często (80–99%) | W 1 chorobie |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Bardzo często (80–99%) | W 1 chorobie |
| PRPF6pre-mRNA processing factor 6 | Bardzo często (80–99%) | W 1 chorobie |
| PRPF8pre-mRNA processing factor 8 | Bardzo często (80–99%) | W 1 chorobie |
| PRPH2peripherin 2 | Bardzo często (80–99%) | W 1 chorobie |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Bardzo często (80–99%) | W 4 chorobach |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Bardzo często (80–99%) | W 2 chorobach |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Bardzo często (80–99%) | W 2 chorobach |
| RBMXRNA binding motif protein X-linked | Bardzo często (80–99%) | W 2 chorobach |
| RBP3retinol binding protein 3 | Bardzo często (80–99%) | W 1 chorobie |
| RDH12retinol dehydrogenase 12 | Bardzo często (80–99%) | W 1 chorobie |
| REEP6receptor accessory protein 6 | Bardzo często (80–99%) | W 1 chorobie |
| RELREL proto-oncogene, NF-kB subunit | Bardzo często (80–99%) | W 1 chorobie |
| RGRretinal G protein coupled receptor | Bardzo często (80–99%) | W 1 chorobie |
| RHOrhodopsin | Bardzo często (80–99%) | W 1 chorobie |
| RLBP1retinaldehyde binding protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| RNF216ring finger protein 216 | Bardzo często (80–99%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Bardzo często (80–99%) | W 1 chorobie |
| RNU6-1RNA, U6 small nuclear 1 | Bardzo często (80–99%) | W 1 chorobie |
| RNU6-2RNA, U6 small nuclear 2 | Bardzo często (80–99%) | W 1 chorobie |
| RNU6-8RNA, U6 small nuclear 8 | Bardzo często (80–99%) | W 1 chorobie |
| RNU6-9RNA, U6 small nuclear 9 | Bardzo często (80–99%) | W 1 chorobie |
| ROM1retinal outer segment membrane protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| RP1RP1 axonemal microtubule associated | Bardzo często (80–99%) | W 1 chorobie |
| RP1L1RP1 like 1 | Bardzo często (80–99%) | W 1 chorobie |
| RP2RP2 activator of ARL3 GTPase | Bardzo często (80–99%) | W 1 chorobie |
| RP9RP9 pre-mRNA splicing factor | Bardzo często (80–99%) | W 1 chorobie |
| RPE65retinoid isomerohydrolase RPE65 | Bardzo często (80–99%) | W 1 chorobie |
| RPGRretinitis pigmentosa GTPase regulator | Bardzo często (80–99%) | W 1 chorobie |
| RXYLT1ribitol xylosyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| SAGS-antigen visual arrestin | Bardzo często (80–99%) | W 1 chorobie |
| SAXO6stabilizer of axonemal microtubules 6 | Bardzo często (80–99%) | W 1 chorobie |
| SCAPERS-phase cyclin A associated protein in the ER | Bardzo często (80–99%) | W 1 chorobie |
| SEMA4Asemaphorin 4A | Bardzo często (80–99%) | W 1 chorobie |
| SLC29A3solute carrier family 29 member 3 | Bardzo często (80–99%) | W 1 chorobie |
| SLC7A14solute carrier family 7 member 14 | Bardzo często (80–99%) | W 1 chorobie |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Bardzo często (80–99%) | W 1 chorobie |
| SPATA7spermatogenesis associated 7 | Bardzo często (80–99%) | W 1 chorobie |
| SRD5A3steroid 5 alpha-reductase 3 | Bardzo często (80–99%) | W 2 chorobach |
| TBC1D20TBC1 domain family member 20 | Bardzo często (80–99%) | W 2 chorobach |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Bardzo często (80–99%) | W 2 chorobach |
| TMEM216transmembrane protein 216 | Bardzo często (80–99%) | W 2 chorobach |
| TNFRSF11ATNF receptor superfamily member 11a | Bardzo często (80–99%) | W 3 chorobach |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Bardzo często (80–99%) | W 1 chorobie |
| TTC8tetratricopeptide repeat domain 8 | Bardzo często (80–99%) | W 1 chorobie |
| TUBTUB bipartite transcription factor | Bardzo często (80–99%) | W 1 chorobie |
| TULP1TUB like protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Bardzo często (80–99%) | W 2 chorobach |
| UBE3Bubiquitin protein ligase E3B | Bardzo często (80–99%) | W 1 chorobie |
| USH2Ausherin | Bardzo często (80–99%) | W 1 chorobie |
| WDR73WD repeat domain 73 | Bardzo często (80–99%) | W 2 chorobach |
| WFS1wolframin ER transmembrane glycoprotein | Bardzo często (80–99%) | W 4 chorobach |
| XPAXPA, DNA damage recognition and repair factor | Bardzo często (80–99%) | W 1 chorobie |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Bardzo często (80–99%) | W 1 chorobie |
| XPO1exportin 1 | Bardzo często (80–99%) | W 1 chorobie |
| ZNF408zinc finger protein 408 | Bardzo często (80–99%) | W 1 chorobie |
| ZNF513zinc finger protein 513 | Bardzo często (80–99%) | W 1 chorobie |
| ZNF592zinc finger protein 592 | Bardzo często (80–99%) | W 1 chorobie |
| ZNHIT3zinc finger HIT-type containing 3 | Bardzo często (80–99%) | W 2 chorobach |
| ACOX1acyl-CoA oxidase 1 | Często (30–79%) | W 2 chorobach |
| ADARadenosine deaminase RNA specific | Często (30–79%) | W 1 chorobie |
| AFF4ALF transcription elongation factor 4 | Często (30–79%) | W 1 chorobie |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Często (30–79%) | W 1 chorobie |
| AMPD2adenosine monophosphate deaminase 2 | Często (30–79%) | W 1 chorobie |
| ANKHANKH inorganic pyrophosphate transport regulator | Często (30–79%) | W 1 chorobie |
| ANTXR1ANTXR cell adhesion molecule 1 | Często (30–79%) | W 2 chorobach |
| ARSAarylsulfatase A | Często (30–79%) | W 4 chorobach |
| ASPAaspartoacylase | Często (30–79%) | W 2 chorobach |
| ASXL1ASXL transcriptional regulator 1 | Często (30–79%) | W 1 chorobie |
| ATAD3AATPase family AAA domain containing 3A | Często (30–79%) | W 2 chorobach |
| ATG7autophagy related 7 | Często (30–79%) | W 1 chorobie |
| ATXN7ataxin 7 | Często (30–79%) | W 1 chorobie |
| B9D1B9 domain containing 1 | Często (30–79%) | W 1 chorobie |
| B9D2B9 domain containing 2 | Często (30–79%) | W 1 chorobie |
| BCAP31B cell receptor associated protein 31 | Często (30–79%) | W 2 chorobach |
| BTDbiotinidase | Często (30–79%) | W 2 chorobach |
| CASP2caspase 2 | Często (30–79%) | W 1 chorobie |
| CCT3chaperonin containing TCP1 subunit 3 | Często (30–79%) | W 1 chorobie |
| CEP290centrosomal protein 290 | Często (30–79%) | W 1 chorobie |
| CHD7chromodomain helicase DNA binding protein 7 | Często (30–79%) | W 1 chorobie |
| CKAP2Lcytoskeleton associated protein 2L | Często (30–79%) | W 2 chorobach |
| CLCN7Cl-/H+ antiporter 7 | Często (30–79%) | W 2 chorobach |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Często (30–79%) | W 1 chorobie |
| COA8cytochrome c oxidase assembly factor 8 | Często (30–79%) | W 1 chorobie |
| CPLX1complexin 1 | Często (30–79%) | W 1 chorobie |
| CSPP1centrosome and spindle pole associated protein 1 | Często (30–79%) | W 2 chorobach |
| CTBP1C-terminal binding protein 1 | Często (30–79%) | W 1 chorobie |
| DIAPH1diaphanous related formin 1 | Często (30–79%) | W 2 chorobach |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Często (30–79%) | W 1 chorobie |
| DNM1dynamin 1 | Często (30–79%) | W 2 chorobach |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Często (30–79%) | W 2 chorobach |
| ELP4elongator acetyltransferase complex subunit 4 | Często (30–79%) | W 1 chorobie |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | 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 2 chorobach |
| EXOSC3exosome component 3 | Często (30–79%) | W 1 chorobie |
| EXOSC5exosome component 5 | Często (30–79%) | W 1 chorobie |
| EXOSC8exosome component 8 | Często (30–79%) | W 1 chorobie |
| EXOSC9exosome component 9 | Często (30–79%) | W 1 chorobie |
| FA2Hfatty acid 2-hydroxylase | Często (30–79%) | W 3 chorobach |
| FCSKfucose kinase | Często (30–79%) | W 1 chorobie |
| FLVCR1FLVCR choline and heme transporter 1 | Często (30–79%) | W 2 chorobach |
| FXNfrataxin | Często (30–79%) | W 2 chorobach |
| GEMIN4gem nuclear organelle associated protein 4 | Często (30–79%) | W 1 chorobie |
| GJA1gap junction protein alpha 1 | Często (30–79%) | W 2 chorobach |
| GLAgalactosidase alpha | Często (30–79%) | W 1 chorobie |
| GLRX5glutaredoxin 5 | Często (30–79%) | W 2 chorobach |
| GNAQG protein subunit alpha q | Często (30–79%) | W 1 chorobie |
| HIKESHIheat shock protein nuclear import factor hikeshi | Często (30–79%) | W 1 chorobie |
| HK1hexokinase 1 | Często (30–79%) | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| INTS8integrator complex subunit 8 | Często (30–79%) | W 1 chorobie |
| KAT6Alysine acetyltransferase 6A | Często (30–79%) | W 2 chorobach |
| KCTD7potassium channel tetramerization domain containing 7 | Często (30–79%) | W 2 chorobach |
| KIF1Akinesin family member 1A | Często (30–79%) | W 1 chorobie |
| LAMB1laminin subunit beta 1 | Często (30–79%) | W 2 chorobach |
| MFFmitochondrial fission factor | Często (30–79%) | W 2 chorobach |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Często (30–79%) | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Często (30–79%) | W 1 chorobie |
| MMACHCmetabolism of cobalamin associated C | Często (30–79%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Często (30–79%) | W 6 chorobach |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Często (30–79%) | W 2 chorobach |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Często (30–79%) | W 3 chorobach |
| MT-CYBmitochondrially encoded cytochrome b | Często (30–79%) | W 3 chorobach |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Często (30–79%) | W 4 chorobach |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Często (30–79%) | W 3 chorobach |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Często (30–79%) | W 4 chorobach |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Często (30–79%) | W 2 chorobach |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Często (30–79%) | W 5 chorobach |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Często (30–79%) | W 4 chorobach |
| MT-RNR1mitochondrially encoded 12S rRNA | Często (30–79%) | W 1 chorobie |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Często (30–79%) | W 2 chorobach |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Często (30–79%) | W 2 chorobach |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Często (30–79%) | W 2 chorobach |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Często (30–79%) | W 3 chorobach |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Często (30–79%) | W 1 chorobie |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Często (30–79%) | W 2 chorobach |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Często (30–79%) | W 2 chorobach |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Często (30–79%) | W 2 chorobach |
| MTO1mitochondrial tRNA translation optimization 1 | Często (30–79%) | W 2 chorobach |
| NAGAalpha-N-acetylgalactosaminidase | Często (30–79%) | W 2 chorobach |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Często (30–79%) | W 1 chorobie |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Często (30–79%) | W 1 chorobie |
| NELFAnegative elongation factor complex member A | Często (30–79%) | W 1 chorobie |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Często (30–79%) | W 2 chorobach |
| NSD2nuclear receptor binding SET domain protein 2 | Często (30–79%) | W 1 chorobie |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Często (30–79%) | W 2 chorobach |
| NUP54nucleoporin 54 | Często (30–79%) | W 1 chorobie |
| NUP62nucleoporin 62 | Często (30–79%) | W 2 chorobach |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Często (30–79%) | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Często (30–79%) | W 1 chorobie |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Często (30–79%) | W 1 chorobie |
| PLA2G6phospholipase A2 group VI | Często (30–79%) | W 3 chorobach |
| PLK4polo like kinase 4 | Często (30–79%) | W 2 chorobach |
| POGZpogo transposable element derived with ZNF domain | Często (30–79%) | W 2 chorobach |
| POLGDNA polymerase gamma, catalytic subunit | Często (30–79%) | W 3 chorobach |
| POLR1ARNA polymerase I subunit A | Często (30–79%) | W 1 chorobie |
| POLR3KRNA polymerase III subunit K | Często (30–79%) | W 1 chorobie |
| POU3F4POU class 3 homeobox 4 | Często (30–79%) | W 1 chorobie |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Często (30–79%) | W 1 chorobie |
| PRUNE1prune exopolyphosphatase 1 | Często (30–79%) | W 2 chorobach |
| PSAPprosaposin | Często (30–79%) | W 5 chorobach |
| RBL2RB transcriptional corepressor like 2 | Często (30–79%) | W 1 chorobie |
| RFC1replication factor C subunit 1 | Często (30–79%) | W 1 chorobie |
| RPGRIP1RPGR interacting protein 1 | Często (30–79%) | W 2 chorobach |
| RPGRIP1LRPGRIP1 like | Często (30–79%) | W 1 chorobie |
| RSPO2R-spondin 2 | Często (30–79%) | W 1 chorobie |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Często (30–79%) | W 1 chorobie |
| SEMA3Esemaphorin 3E | Często (30–79%) | W 1 chorobie |
| SLC19A2solute carrier family 19 member 2 | Często (30–79%) | W 2 chorobach |
| SLC25A46solute carrier family 25 member 46 | Często (30–79%) | W 3 chorobach |
| SLC6A9solute carrier family 6 member 9 | Często (30–79%) | W 1 chorobie |
| SMOC1SPARC related modular calcium binding 1 | Często (30–79%) | W 1 chorobie |
| SNAP29synaptosome associated protein 29 | Często (30–79%) | W 1 chorobie |
| SNF8SNF8 subunit of ESCRT-II | Często (30–79%) | W 1 chorobie |
| SOX5SRY-box transcription factor 5 | Często (30–79%) | W 2 chorobach |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Często (30–79%) | W 2 chorobach |
| STAMBPSTAM binding protein | Często (30–79%) | W 1 chorobie |
| SUMF1sulfatase modifying factor 1 | Często (30–79%) | W 1 chorobie |
| TBC1D2BTBC1 domain family member 2B | Często (30–79%) | W 1 chorobie |
| TBCDtubulin folding cofactor D | Często (30–79%) | W 2 chorobach |
| TBCEtubulin folding cofactor E | Często (30–79%) | W 2 chorobach |
| TBX4T-box transcription factor 4 | Często (30–79%) | W 1 chorobie |
| TCTN1tectonic family member 1 | Często (30–79%) | W 1 chorobie |
| TCTN2tectonic family member 2 | Często (30–79%) | W 1 chorobie |
| TCTN3tectonic family member 3 | Często (30–79%) | W 1 chorobie |
| TEFMtranscription elongation factor, mitochondrial | Często (30–79%) | W 1 chorobie |
| THG1LtRNA-histidine guanylyltransferase 1 like | Często (30–79%) | W 1 chorobie |
| TIMM50translocase of inner mitochondrial membrane 50 | Często (30–79%) | W 2 chorobach |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Często (30–79%) | W 1 chorobie |
| TMEM107transmembrane protein 107 | Często (30–79%) | W 1 chorobie |
| TMEM231transmembrane protein 231 | Często (30–79%) | W 1 chorobie |
| TMEM237transmembrane protein 237 | Często (30–79%) | W 2 chorobach |
| TMEM67transmembrane protein 67 | Często (30–79%) | W 1 chorobie |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Często (30–79%) | W 2 chorobach |
| TNFRSF11BTNF receptor superfamily member 11b | Często (30–79%) | W 1 chorobie |
| TOE1target of EGR1, exonuclease | Często (30–79%) | W 2 chorobach |
| TRAPPC12trafficking protein particle complex subunit 12 | Często (30–79%) | W 2 chorobach |
| TUBGCP4tubulin gamma complex component 4 | Często (30–79%) | W 1 chorobie |
| TUBGCP6tubulin gamma complex component 6 | Często (30–79%) | W 1 chorobie |
| TXNDC15thioredoxin domain containing 15 | Często (30–79%) | W 1 chorobie |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Często (30–79%) | W 2 chorobach |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Często (30–79%) | W 2 chorobach |
| VPS53VPS53 subunit of GARP complex | Często (30–79%) | W 1 chorobie |
| VRK1VRK serine/threonine kinase 1 | Często (30–79%) | W 1 chorobie |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Często (30–79%) | W 1 chorobie |
| WNT3Wnt family member 3 | Często (30–79%) | W 1 chorobie |
| AAASaladin WD repeat nucleoporin | Czasami (5–29%) | W 2 chorobach |
| ADA2adenosine deaminase 2 | Czasami (5–29%) | W 1 chorobie |
| AIREautoimmune regulator | Czasami (5–29%) | W 1 chorobie |
| AKT3AKT serine/threonine kinase 3 | Czasami (5–29%) | W 1 chorobie |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Czasami (5–29%) | W 1 chorobie |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Czasami (5–29%) | W 1 chorobie |
| ARVCFARVCF delta catenin family member | Czasami (5–29%) | W 1 chorobie |
| ATP5F1AATP synthase F1 subunit alpha | Czasami (5–29%) | W 1 chorobie |
| ATP5F1DATP synthase F1 subunit delta | Czasami (5–29%) | W 1 chorobie |
| ATP5F1EATP synthase F1 subunit epsilon | Czasami (5–29%) | W 1 chorobie |
| ATP5MKATP synthase membrane subunit k | Czasami (5–29%) | W 1 chorobie |
| ATP5POATP synthase peripheral stalk subunit OSCP | Czasami (5–29%) | W 1 chorobie |
| ATP6V1AATPase H+ transporting V1 subunit A | Czasami (5–29%) | W 2 chorobach |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Czasami (5–29%) | W 1 chorobie |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Czasami (5–29%) | W 1 chorobie |
| ATRXATRX chromatin remodeler | Czasami (5–29%) | W 2 chorobach |
| ATXN1ataxin 1 | Czasami (5–29%) | W 2 chorobach |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Czasami (5–29%) | W 1 chorobie |
| B3GLCTbeta 3-glucosyltransferase | Czasami (5–29%) | W 1 chorobie |
| BOLA3bolA family member 3 | Czasami (5–29%) | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Czasami (5–29%) | W 2 chorobach |
| BRAT1BRCA1 associated ATM activator 1 | Czasami (5–29%) | W 1 chorobie |
| CA2carbonic anhydrase 2 | Czasami (5–29%) | W 1 chorobie |
| CASKcalcium/calmodulin dependent serine protein kinase | Czasami (5–29%) | W 1 chorobie |
| CASRcalcium sensing receptor | Czasami (5–29%) | W 1 chorobie |
| CASZ1castor zinc finger 1 | Czasami (5–29%) | W 1 chorobie |
| CBScystathionine beta-synthase | Czasami (5–29%) | W 1 chorobie |
| CCDC22CCC complex scaffolding subunit CCDC22 | Czasami (5–29%) | W 1 chorobie |
| CDC42cell division cycle 42 | Czasami (5–29%) | W 2 chorobach |
| CHSY1chondroitin sulfate synthase 1 | Czasami (5–29%) | W 2 chorobach |
| CLCN3Cl-/H+ antiporter 3 | Czasami (5–29%) | W 1 chorobie |
| CNOT3CCR4-NOT transcription complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| COG6component of oligomeric golgi complex 6 | Czasami (5–29%) | W 1 chorobie |
| COMTcatechol-O-methyltransferase | Czasami (5–29%) | W 1 chorobie |
| CPSF3cleavage and polyadenylation specific factor 3 | Czasami (5–29%) | W 1 chorobie |
| CSF1Rcolony stimulating factor 1 receptor | Czasami (5–29%) | W 1 chorobie |
| CTNNB1catenin beta 1 | Czasami (5–29%) | W 2 chorobach |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Czasami (5–29%) | W 1 chorobie |
| DGUOKdeoxyguanosine kinase | Czasami (5–29%) | W 1 chorobie |
| DHCR77-dehydrocholesterol reductase | Czasami (5–29%) | W 1 chorobie |
| DNA2DNA replication helicase/nuclease 2 | Czasami (5–29%) | W 1 chorobie |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Czasami (5–29%) | W 2 chorobach |
| DOCK6dedicator of cytokinesis 6 | Czasami (5–29%) | W 1 chorobie |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Czasami (5–29%) | W 2 chorobach |
| DPYSL5dihydropyrimidinase like 5 | Czasami (5–29%) | W 1 chorobie |
| ELP1elongator acetyltransferase complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| EMC1ER membrane protein complex subunit 1 | Czasami (5–29%) | W 2 chorobach |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| FBXL4F-box and leucine rich repeat protein 4 | Czasami (5–29%) | W 1 chorobie |
| FGFR3fibroblast growth factor receptor 3 | Czasami (5–29%) | W 2 chorobach |
| FHfumarate hydratase | Czasami (5–29%) | W 2 chorobach |
| FRMPD4FERM and PDZ domain containing 4 | Czasami (5–29%) | W 1 chorobie |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Czasami (5–29%) | W 1 chorobie |
| GALCgalactosylceramidase | Czasami (5–29%) | W 2 chorobach |
| GMPPAGDP-mannose pyrophosphorylase A | Czasami (5–29%) | W 1 chorobie |
| GNA11G protein subunit alpha 11 | Czasami (5–29%) | W 1 chorobie |
| GP1BBglycoprotein Ib platelet subunit beta | Czasami (5–29%) | W 1 chorobie |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Czasami (5–29%) | W 2 chorobach |
| HIRAhistone cell cycle regulator | Czasami (5–29%) | W 1 chorobie |
| HLA-Bmajor histocompatibility complex, class I, B | Czasami (5–29%) | W 1 chorobie |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Czasami (5–29%) | W 1 chorobie |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Czasami (5–29%) | W 2 chorobach |
| HSPG2heparan sulfate proteoglycan 2 | Czasami (5–29%) | W 1 chorobie |
| IBA57iron-sulfur cluster assembly factor IBA57 | Czasami (5–29%) | W 4 chorobach |
| IER3IP1immediate early response 3 interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| JMJD1Cjumonji domain containing 1C | Czasami (5–29%) | W 1 chorobie |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Czasami (5–29%) | W 1 chorobie |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Czasami (5–29%) | W 2 chorobach |
| KIF11kinesin family member 11 | Czasami (5–29%) | W 2 chorobach |
| KIF7kinesin family member 7 | Czasami (5–29%) | W 1 chorobie |
| KRASKRas proto-oncogene, GTPase | Czasami (5–29%) | W 1 chorobie |
| LRP4LDL receptor related protein 4 | Czasami (5–29%) | W 1 chorobie |
| LRP5LDL receptor related protein 5 | Czasami (5–29%) | W 1 chorobie |
| LUZP1leucine zipper protein 1 | Czasami (5–29%) | W 1 chorobie |
| LZTR1leucine zipper like post translational regulator 1 | Czasami (5–29%) | W 1 chorobie |
| MAP2K1mitogen-activated protein kinase kinase 1 | Czasami (5–29%) | W 1 chorobie |
| MAP2K2mitogen-activated protein kinase kinase 2 | Czasami (5–29%) | W 1 chorobie |
| MGPmatrix Gla protein | Czasami (5–29%) | W 1 chorobie |
| MICU1mitochondrial calcium uptake 1 | Czasami (5–29%) | W 2 chorobach |
| MID2midline 2 | Czasami (5–29%) | W 1 chorobie |
| MMP23Bmatrix metallopeptidase 23B | Czasami (5–29%) | W 1 chorobie |
| MMUTmethylmalonyl-CoA mutase | Czasami (5–29%) | W 2 chorobach |
| MOGSmannosyl-oligosaccharide glucosidase | Czasami (5–29%) | W 2 chorobach |
| MPDU1mannose-P-dolichol utilization defect 1 | Czasami (5–29%) | W 2 chorobach |
| MPLKIPM-phase specific PLK1 interacting protein | Czasami (5–29%) | W 1 chorobie |
| MRPS34mitochondrial ribosomal protein S34 | Czasami (5–29%) | W 1 chorobie |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Czasami (5–29%) | W 1 chorobie |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Czasami (5–29%) | W 1 chorobie |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Czasami (5–29%) | W 1 chorobie |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Czasami (5–29%) | W 1 chorobie |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Czasami (5–29%) | W 2 chorobach |
| MTORmechanistic target of rapamycin kinase | Czasami (5–29%) | W 1 chorobie |
| MTSS2MTSS I-BAR domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| MYO5Amyosin VA | Czasami (5–29%) | W 1 chorobie |
| NDPnorrin cystine knot growth factor NDP | Czasami (5–29%) | W 2 chorobach |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Czasami (5–29%) | W 1 chorobie |
| NEU1neuraminidase 1 | Czasami (5–29%) | W 2 chorobach |
| NFIXnuclear factor I X | Czasami (5–29%) | W 1 chorobie |
| NFU1NFU1 iron-sulfur cluster scaffold | Czasami (5–29%) | W 1 chorobie |
| NLRP3NLR family pyrin domain containing 3 | Czasami (5–29%) | W 1 chorobie |
| NOTCH2NLCnotch 2 N-terminal like C | Czasami (5–29%) | W 1 chorobie |
| NRCAMneuronal cell adhesion molecule | Czasami (5–29%) | W 1 chorobie |
| NT5C25'-nucleotidase, cytosolic II | Czasami (5–29%) | W 2 chorobach |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Czasami (5–29%) | W 1 chorobie |
| PCLOpiccolo presynaptic cytomatrix protein | Czasami (5–29%) | W 1 chorobie |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Czasami (5–29%) | W 1 chorobie |
| PDPNpodoplanin | Czasami (5–29%) | W 1 chorobie |
| PI4KAphosphatidylinositol 4-kinase alpha | Czasami (5–29%) | W 1 chorobie |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Czasami (5–29%) | W 1 chorobie |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Czasami (5–29%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Czasami (5–29%) | W 2 chorobach |
| PMPCBpeptidase, mitochondrial processing subunit beta | Czasami (5–29%) | W 1 chorobie |
| POLR3ARNA polymerase III subunit A | Czasami (5–29%) | W 3 chorobach |
| PRDM16PR/SET domain 16 | Czasami (5–29%) | W 1 chorobie |
| PRKCZprotein kinase C zeta | Czasami (5–29%) | W 1 chorobie |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Czasami (5–29%) | W 1 chorobie |
| RAB11BRAB11B, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RBM10RNA binding motif protein 10 | Czasami (5–29%) | W 2 chorobach |
| REREarginine-glutamic acid dipeptide repeats | Czasami (5–29%) | W 3 chorobach |
| RHOAras homolog family member A | Czasami (5–29%) | W 1 chorobie |
| RNU7-1RNA, U7 small nuclear 1 | Czasami (5–29%) | W 1 chorobie |
| RPS6KA3ribosomal protein S6 kinase A3 | Czasami (5–29%) | W 1 chorobie |
| RREB1ras responsive element binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| RRM1ribonucleotide reductase catalytic subunit M1 | Czasami (5–29%) | W 1 chorobie |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Czasami (5–29%) | W 1 chorobie |
| SARDHsarcosine dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| SBF2SET binding factor 2 | Czasami (5–29%) | W 1 chorobie |
| SEC23ASEC23 homolog A, COPII component | Czasami (5–29%) | W 1 chorobie |
| SEC24CSEC24 homolog C, COPII component | Czasami (5–29%) | W 1 chorobie |
| SELENOIselenoprotein I | Czasami (5–29%) | W 1 chorobie |
| SERAC1serine active site containing 1 | Czasami (5–29%) | W 2 chorobach |
| SH3BP2SH3 domain binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| SIL1SIL1 nucleotide exchange factor | Czasami (5–29%) | W 1 chorobie |
| SKISKI proto-oncogene | Czasami (5–29%) | W 1 chorobie |
| SLC52A2solute carrier family 52 member 2 | Czasami (5–29%) | W 1 chorobie |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| SONSON DNA and RNA binding protein | Czasami (5–29%) | W 2 chorobach |
| SP7Sp7 transcription factor | Czasami (5–29%) | W 1 chorobie |
| SPENspen family transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| TANGO2transport and golgi organization 2 homolog | Czasami (5–29%) | W 2 chorobach |
| TBC1D24TBC1 domain family member 24 | Czasami (5–29%) | W 4 chorobach |
| TBX1T-box transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| TGFB1transforming growth factor beta 1 | Czasami (5–29%) | W 1 chorobie |
| TK2thymidine kinase 2 | Czasami (5–29%) | W 1 chorobie |
| TMEM222transmembrane protein 222 | Czasami (5–29%) | W 1 chorobie |
| TMEM53transmembrane protein 53 | Czasami (5–29%) | W 1 chorobie |
| TMEM63Atransmembrane protein 63A | Czasami (5–29%) | W 1 chorobie |
| TOP3ADNA topoisomerase III alpha | Czasami (5–29%) | W 1 chorobie |
| TRAF7TNF receptor associated factor 7 | Czasami (5–29%) | W 1 chorobie |
| TRAPPC11trafficking protein particle complex subunit 11 | Czasami (5–29%) | W 1 chorobie |
| TSC1TSC complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| TSC2TSC complex subunit 2 | Czasami (5–29%) | W 1 chorobie |
| TUBGCP2tubulin gamma complex component 2 | Czasami (5–29%) | W 1 chorobie |
| TWIST1twist family bHLH transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| UBE4Bubiquitination factor E4B | Czasami (5–29%) | W 1 chorobie |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Czasami (5–29%) | W 1 chorobie |
| VPS13Bvacuolar protein sorting 13 homolog B | Czasami (5–29%) | W 2 chorobach |
| VPS35LVPS35 endosomal protein sorting factor like | Czasami (5–29%) | W 1 chorobie |
| WASHC5WASH complex subunit 5 | Czasami (5–29%) | W 1 chorobie |
| WDR45WD repeat domain 45 | Czasami (5–29%) | W 1 chorobie |
| WWOXWW domain containing oxidoreductase | Czasami (5–29%) | W 2 chorobach |
| YAP1Yes1 associated transcriptional regulator | Czasami (5–29%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| ZFXzinc finger protein X-linked | Czasami (5–29%) | W 1 chorobie |
| ZPR1ZPR1 zinc finger | Czasami (5–29%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Rzadko (1–4%) | W 1 chorobie |
| ACADSacyl-CoA dehydrogenase short chain | Rzadko (1–4%) | W 1 chorobie |
| ACTL6Bactin like 6B | Rzadko (1–4%) | W 1 chorobie |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Rzadko (1–4%) | W 1 chorobie |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Rzadko (1–4%) | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Rzadko (1–4%) | W 1 chorobie |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Rzadko (1–4%) | W 1 chorobie |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Rzadko (1–4%) | W 1 chorobie |
| CDK19cyclin dependent kinase 19 | Rzadko (1–4%) | W 1 chorobie |
| CELF2CUGBP Elav-like family member 2 | Rzadko (1–4%) | W 1 chorobie |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| CLTCclathrin heavy chain | Rzadko (1–4%) | W 1 chorobie |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Rzadko (1–4%) | W 1 chorobie |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Rzadko (1–4%) | W 1 chorobie |
| DALRD3DALR anticodon binding domain containing 3 | Rzadko (1–4%) | W 1 chorobie |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Rzadko (1–4%) | W 1 chorobie |
| DENND5ADENN domain containing 5A | Rzadko (1–4%) | W 1 chorobie |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Rzadko (1–4%) | W 1 chorobie |
| DPYDdihydropyrimidine dehydrogenase | Rzadko (1–4%) | W 1 chorobie |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Rzadko (1–4%) | W 1 chorobie |
| FBXO28F-box protein 28 | Rzadko (1–4%) | W 1 chorobie |
| FDX2ferredoxin 2 | Rzadko (1–4%) | W 1 chorobie |
| FGF12fibroblast growth factor 12 | Rzadko (1–4%) | W 1 chorobie |
| FOXG1forkhead box G1 | Rzadko (1–4%) | W 1 chorobie |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Rzadko (1–4%) | W 1 chorobie |
| FZR1fizzy and cell division cycle 20 related 1 | Rzadko (1–4%) | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Rzadko (1–4%) | W 1 chorobie |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Rzadko (1–4%) | W 1 chorobie |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Rzadko (1–4%) | W 1 chorobie |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Rzadko (1–4%) | W 1 chorobie |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Rzadko (1–4%) | W 1 chorobie |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Rzadko (1–4%) | W 1 chorobie |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Rzadko (1–4%) | W 1 chorobie |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Rzadko (1–4%) | W 1 chorobie |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Rzadko (1–4%) | W 1 chorobie |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Rzadko (1–4%) | W 1 chorobie |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Rzadko (1–4%) | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Rzadko (1–4%) | W 1 chorobie |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Rzadko (1–4%) | W 1 chorobie |
| MTHFRmethylenetetrahydrofolate reductase | Rzadko (1–4%) | W 1 chorobie |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Rzadko (1–4%) | W 1 chorobie |
| NECAP1NECAP endocytosis associated 1 | Rzadko (1–4%) | W 1 chorobie |
| NGLY1N-glycanase 1 | Rzadko (1–4%) | W 1 chorobie |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Rzadko (1–4%) | W 1 chorobie |
| PACS2phosphofurin acidic cluster sorting protein 2 | Rzadko (1–4%) | W 1 chorobie |
| PANK2pantothenate kinase 2 | Rzadko (1–4%) | W 2 chorobach |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Rzadko (1–4%) | W 2 chorobach |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Rzadko (1–4%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Rzadko (1–4%) | W 1 chorobie |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Rzadko (1–4%) | W 1 chorobie |
| SCYL1SCY1 like pseudokinase 1 | Rzadko (1–4%) | W 1 chorobie |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Rzadko (1–4%) | W 1 chorobie |
| SLC13A5solute carrier family 13 member 5 | Rzadko (1–4%) | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Rzadko (1–4%) | W 1 chorobie |
| SLC38A3solute carrier family 38 member 3 | Rzadko (1–4%) | W 1 chorobie |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Rzadko (1–4%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Rzadko (1–4%) | W 1 chorobie |
| SZT2SZT2 subunit of KICSTOR complex | Rzadko (1–4%) | W 1 chorobie |
| TRAK1trafficking kinesin protein 1 | Rzadko (1–4%) | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Rzadko (1–4%) | W 1 chorobie |
| UFSP2UFM1 specific peptidase 2 | Rzadko (1–4%) | W 1 chorobie |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Rzadko (1–4%) | W 1 chorobie |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Nie odnotowano | W 1 chorobie |
| AGXTalanine--glyoxylate aminotransferase | Nie odnotowano | W 1 chorobie |
| ARXaristaless related homeobox | Nie odnotowano | W 1 chorobie |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Nie odnotowano | W 1 chorobie |
| CTC1CST telomere replication complex component 1 | Nie odnotowano | W 1 chorobie |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Nie odnotowano | W 1 chorobie |
| DKC1dyskerin pseudouridine synthase 1 | Nie odnotowano | W 1 chorobie |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Nie odnotowano | W 1 chorobie |
| GJC2gap junction protein gamma 2 | Nie odnotowano | W 1 chorobie |
| GLB1galactosidase beta 1 | Nie odnotowano | W 1 chorobie |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Nie odnotowano | W 1 chorobie |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Nie odnotowano | W 1 chorobie |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Nie odnotowano | W 1 chorobie |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Nie odnotowano | W 1 chorobie |
| MAGmyelin associated glycoprotein | Nie odnotowano | W 1 chorobie |
| MCOLN1mucolipin TRP cation channel 1 | Nie odnotowano | W 1 chorobie |
| MFSD8major facilitator superfamily domain containing 8 | Nie odnotowano | W 1 chorobie |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Nie odnotowano | W 1 chorobie |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Nie odnotowano | W 1 chorobie |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Nie odnotowano | W 1 chorobie |
| NIPBLNIPBL cohesin loading factor | Nie odnotowano | W 1 chorobie |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Nie odnotowano | W 1 chorobie |
| PCK1phosphoenolpyruvate carboxykinase 1 | Nie odnotowano | W 1 chorobie |
| PDHXpyruvate dehydrogenase complex component X | Nie odnotowano | W 1 chorobie |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Nie odnotowano | W 1 chorobie |
| PORCNporcupine O-acyltransferase | Nie odnotowano | W 1 chorobie |
| PPT1palmitoyl-protein thioesterase 1 | Nie odnotowano | W 1 chorobie |
| PRICKLE3prickle planar cell polarity protein 3 | Nie odnotowano | W 1 chorobie |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Nie odnotowano | W 1 chorobie |
| RAB23RAB23, member RAS oncogene family | Nie odnotowano | W 1 chorobie |
| RECQL4RecQ like helicase 4 | Nie odnotowano | W 1 chorobie |
| RPIAribose 5-phosphate isomerase A | Nie odnotowano | W 1 chorobie |
| SLC39A14solute carrier family 39 member 14 | Nie odnotowano | W 1 chorobie |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Nie odnotowano | W 1 chorobie |
| TBC1D7TBC1 domain family member 7 | Nie odnotowano | W 1 chorobie |
| TMEM126Atransmembrane protein 126A | Nie odnotowano | W 1 chorobie |
| TNFSF11TNF superfamily member 11 | Nie odnotowano | W 1 chorobie |
| TSFMTs translation elongation factor, mitochondrial | Nie odnotowano | W 1 chorobie |
| TUBB4Atubulin beta 4A class IVa | Nie odnotowano | W 1 chorobie |
| TXN2thioredoxin 2 | Nie odnotowano | W 1 chorobie |
| VCANversican | Nie odnotowano | W 1 chorobie |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | 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
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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