Cecha
Visual impairment
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Podsumowanie
- Znana także jako
- Impaired vision, Loss of eyesight, Poor vision
- Układ organizmu
- Abnormality of the eye
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zmiany w tych genach powodują rzadkie choroby, w których występuje Visual impairment. 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 1 chorobie |
| AFG2AAAA ATPase AFG2A | Zawsze | W 2 chorobach |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Zawsze | W 1 chorobie |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Zawsze | W 1 chorobie |
| ALMS1ALMS1 centrosome and basal body associated protein | Zawsze | W 2 chorobach |
| ARL6ARF like GTPase 6 | Zawsze | W 2 chorobach |
| ASPAaspartoacylase | Zawsze | W 1 chorobie |
| ASPHaspartate beta-hydroxylase | Zawsze | W 1 chorobie |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Zawsze | W 1 chorobie |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| CEP290centrosomal protein 290 | Zawsze | W 4 chorobach |
| CEP78centrosomal protein 78 | Zawsze | W 1 chorobie |
| CHMCHM Rab escort protein | Zawsze | W 2 chorobach |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Zawsze | W 2 chorobach |
| COL18A1collagen type XVIII alpha 1 chain | Zawsze | W 1 chorobie |
| CRXcone-rod homeobox | Zawsze | W 3 chorobach |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Zawsze | W 1 chorobie |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Zawsze | W 1 chorobie |
| EIF4A2eukaryotic translation initiation factor 4A2 | Zawsze | W 1 chorobie |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Zawsze | W 3 chorobach |
| FCSKfucose kinase | Zawsze | W 1 chorobie |
| FDXRferredoxin reductase | Zawsze | W 3 chorobach |
| GRNgranulin precursor | Zawsze | W 1 chorobie |
| GTPBP2GTP binding protein 2 | Zawsze | W 1 chorobie |
| HARS1histidyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| HKDC1hexokinase domain containing 1 | Zawsze | W 2 chorobach |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Zawsze | W 2 chorobach |
| IFT74intraflagellar transport 74 | Zawsze | W 1 chorobie |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Zawsze | W 1 chorobie |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Zawsze | W 1 chorobie |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Zawsze | W 1 chorobie |
| LZTFL1leucine zipper transcription factor like 1 | Zawsze | W 1 chorobie |
| MFSD8major facilitator superfamily domain containing 8 | Zawsze | W 2 chorobach |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Zawsze | W 2 chorobach |
| NAPBNSF attachment protein beta | Zawsze | W 1 chorobie |
| NCAPG2non-SMC condensin II complex subunit G2 | Zawsze | W 1 chorobie |
| NLRP1NLR family pyrin domain containing 1 | Zawsze | W 1 chorobie |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Zawsze | W 2 chorobach |
| OATornithine aminotransferase | Zawsze | W 1 chorobie |
| OPA1OPA1 mitochondrial dynamin like GTPase | Zawsze | W 4 chorobach |
Pokaż jeszcze 560 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Zawsze | W 3 chorobach |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Zawsze | W 2 chorobach |
| PAX6paired box 6 | Zawsze | W 3 chorobach |
| PCDH12protocadherin 12 | Zawsze | W 1 chorobie |
| PDE6Aphosphodiesterase 6A | Zawsze | W 2 chorobach |
| PRPF6pre-mRNA processing factor 6 | Zawsze | W 2 chorobach |
| PRPH2peripherin 2 | Zawsze | W 6 chorobach |
| RBP3retinol binding protein 3 | Zawsze | W 2 chorobach |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Zawsze | W 2 chorobach |
| SCO2synthesis of cytochrome C oxidase 2 | Zawsze | W 1 chorobie |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Zawsze | W 2 chorobach |
| SDHDsuccinate dehydrogenase complex subunit D | Zawsze | W 1 chorobie |
| SFXN4sideroflexin 4 | Zawsze | W 1 chorobie |
| SLC24A5solute carrier family 24 member 5 | Zawsze | W 1 chorobie |
| TBC1D20TBC1 domain family member 20 | Zawsze | W 1 chorobie |
| TENM3teneurin transmembrane protein 3 | Zawsze | W 1 chorobie |
| TGFBItransforming growth factor beta induced | Zawsze | W 4 chorobach |
| TMEM53transmembrane protein 53 | Zawsze | W 1 chorobie |
| TMEM63Btransmembrane protein 63B | Zawsze | W 1 chorobie |
| TSEN2tRNA splicing endonuclease subunit 2 | Zawsze | W 1 chorobie |
| TUBTUB bipartite transcription factor | Zawsze | W 2 chorobach |
| VPS4Avacuolar protein sorting 4 homolog A | Zawsze | W 1 chorobie |
| WDR19WD repeat domain 19 | Zawsze | W 3 chorobach |
| YME1L1YME1 like 1 ATPase | Zawsze | W 1 chorobie |
| ZFXzinc finger protein X-linked | Zawsze | W 1 chorobie |
| ABCA4ATP binding cassette subfamily A member 4 | Bardzo często (80–99%) | W 3 chorobach |
| AGBL5AGBL carboxypeptidase 5 | Bardzo często (80–99%) | W 1 chorobie |
| AHI1Abelson helper integration site 1 | Bardzo często (80–99%) | W 2 chorobach |
| AHRaryl hydrocarbon receptor | Bardzo często (80–99%) | W 1 chorobie |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Bardzo często (80–99%) | W 2 chorobach |
| 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 |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Bardzo często (80–99%) | W 1 chorobie |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | 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 |
| BEST1bestrophin 1 | Bardzo często (80–99%) | W 4 chorobach |
| CA4carbonic anhydrase 4 | Bardzo często (80–99%) | W 1 chorobie |
| CC2D2Acoiled-coil and C2 domain containing 2A | Bardzo często (80–99%) | W 3 chorobach |
| CDHR1cadherin related family member 1 | Bardzo często (80–99%) | W 2 chorobach |
| CEP164centrosomal protein 164 | Bardzo często (80–99%) | W 1 chorobie |
| CERKLCERK like autophagy regulator | Bardzo często (80–99%) | W 2 chorobach |
| CFAP20cilia and flagella associated protein 20 | Bardzo często (80–99%) | W 1 chorobie |
| CFAP418cilia and flagella associated protein 418 | Bardzo często (80–99%) | W 2 chorobach |
| CLCN7Cl-/H+ antiporter 7 | Bardzo często (80–99%) | W 4 chorobach |
| CLN8CLN8 transmembrane ER and ERGIC protein | Bardzo często (80–99%) | W 1 chorobie |
| CLRN1clarin 1 | Bardzo często (80–99%) | W 2 chorobach |
| 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 |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | 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 1 chorobie |
| CTNScystinosin, lysosomal cystine transporter | Bardzo często (80–99%) | W 2 chorobach |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Bardzo często (80–99%) | W 1 chorobie |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Bardzo często (80–99%) | W 1 chorobie |
| DHX38DEAH-box helicase 38 | Bardzo często (80–99%) | W 1 chorobie |
| DNM1Ldynamin 1L | Bardzo często (80–99%) | W 1 chorobie |
| EXOSC8exosome component 8 | Bardzo często (80–99%) | W 1 chorobie |
| EYSEGF-like photoreceptor maintenance factor | Bardzo często (80–99%) | W 1 chorobie |
| FAM161AFAM161 centrosomal protein A | Bardzo często (80–99%) | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Bardzo często (80–99%) | W 2 chorobach |
| FKRPfukutin related protein | Bardzo często (80–99%) | W 1 chorobie |
| FKTNfukutin | Bardzo często (80–99%) | W 2 chorobach |
| 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 2 chorobach |
| GMPPBGDP-mannose pyrophosphorylase B | Bardzo często (80–99%) | W 1 chorobie |
| GNAT2G protein subunit alpha transducin 2 | Bardzo często (80–99%) | W 2 chorobach |
| GUCA1Aguanylate cyclase activator 1A | Bardzo często (80–99%) | W 3 chorobach |
| GUCA1Bguanylate cyclase activator 1B | Bardzo często (80–99%) | W 2 chorobach |
| HESX1HESX homeobox 1 | Bardzo często (80–99%) | W 2 chorobach |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Bardzo często (80–99%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Bardzo często (80–99%) | W 2 chorobach |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Bardzo często (80–99%) | W 1 chorobie |
| IFT140intraflagellar transport 140 | Bardzo często (80–99%) | W 1 chorobie |
| IFT172intraflagellar transport 172 | Bardzo często (80–99%) | W 1 chorobie |
| IFT43intraflagellar transport 43 | Bardzo często (80–99%) | W 1 chorobie |
| IFT54intraflagellar transport 54 | 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 2 chorobach |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Bardzo często (80–99%) | W 2 chorobach |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Bardzo często (80–99%) | W 2 chorobach |
| INPP5Einositol polyphosphate-5-phosphatase E | Bardzo często (80–99%) | W 2 chorobach |
| INVSinversin | Bardzo często (80–99%) | W 1 chorobie |
| IQCB1IQ motif containing B1 | 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 |
| KLHL7kelch like family member 7 | Bardzo często (80–99%) | W 1 chorobie |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| LRATlecithin retinol acyltransferase | Bardzo często (80–99%) | W 2 chorobach |
| LSSlanosterol synthase | 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 |
| MTRFRmitochondrial translation release factor in rescue | Bardzo często (80–99%) | W 2 chorobach |
| NEK2NIMA related kinase 2 | Bardzo często (80–99%) | W 1 chorobie |
| NEU1neuraminidase 1 | Bardzo często (80–99%) | W 1 chorobie |
| NHSNHS actin remodeling regulator | Bardzo często (80–99%) | W 1 chorobie |
| NPHP1nephrocystin 1 | Bardzo często (80–99%) | W 1 chorobie |
| NPHP3nephrocystin 3 | Bardzo często (80–99%) | W 1 chorobie |
| NPHP4nephrocystin 4 | 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 2 chorobach |
| OFD1OFD1 centriole and centriolar satellite protein | Bardzo często (80–99%) | W 1 chorobie |
| OTX2orthodenticle homeobox 2 | Bardzo często (80–99%) | W 2 chorobach |
| PCAREphotoreceptor cilium actin regulator | Bardzo często (80–99%) | W 2 chorobach |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Bardzo często (80–99%) | W 1 chorobie |
| PDE6Bphosphodiesterase 6B | Bardzo często (80–99%) | W 1 chorobie |
| PDE6Cphosphodiesterase 6C | Bardzo często (80–99%) | W 2 chorobach |
| PDE6Gphosphodiesterase 6G | Bardzo często (80–99%) | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Bardzo często (80–99%) | W 3 chorobach |
| PEX10peroxisomal biogenesis factor 10 | Bardzo często (80–99%) | W 4 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 4 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 4 chorobach |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Bardzo często (80–99%) | W 2 chorobach |
| POMT1protein O-mannosyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| POMT2protein O-mannosyltransferase 2 | Bardzo często (80–99%) | W 1 chorobie |
| PPIBpeptidylprolyl isomerase B | Bardzo często (80–99%) | W 1 chorobie |
| PRCDphotoreceptor disc component | Bardzo często (80–99%) | W 1 chorobie |
| PROKR2prokineticin receptor 2 | Bardzo często (80–99%) | W 2 chorobach |
| PROM1prominin 1 | Bardzo często (80–99%) | W 2 chorobach |
| 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 |
| PRPF8pre-mRNA processing factor 8 | Bardzo często (80–99%) | W 1 chorobie |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | 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 |
| RGRretinal G protein coupled receptor | Bardzo często (80–99%) | W 2 chorobach |
| RGS9regulator of G protein signaling 9 | Bardzo często (80–99%) | W 1 chorobie |
| RGS9BPregulator of G protein signaling 9 binding protein | 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 |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | 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 3 chorobach |
| RPGRretinitis pigmentosa GTPase regulator | Bardzo często (80–99%) | W 3 chorobach |
| SAGS-antigen visual arrestin | Bardzo często (80–99%) | W 3 chorobach |
| 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 |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Bardzo często (80–99%) | W 1 chorobie |
| SEMA4Asemaphorin 4A | Bardzo często (80–99%) | W 3 chorobach |
| SLC38A3solute carrier family 38 member 3 | Bardzo często (80–99%) | W 1 chorobie |
| SLC4A11solute carrier family 4 member 11 | Bardzo często (80–99%) | W 2 chorobach |
| SLC7A14solute carrier family 7 member 14 | Bardzo często (80–99%) | W 1 chorobie |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Bardzo często (80–99%) | W 2 chorobach |
| SNX10sorting nexin 10 | Bardzo często (80–99%) | W 1 chorobie |
| SOX2SRY-box transcription factor 2 | Bardzo często (80–99%) | W 1 chorobie |
| SOX3SRY-box transcription factor 3 | Bardzo często (80–99%) | W 1 chorobie |
| SPATA7spermatogenesis associated 7 | Bardzo często (80–99%) | W 2 chorobach |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Bardzo często (80–99%) | W 1 chorobie |
| SUMF1sulfatase modifying factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Bardzo często (80–99%) | W 3 chorobach |
| TMEM216transmembrane protein 216 | Bardzo często (80–99%) | W 3 chorobach |
| TNFSF11TNF superfamily member 11 | Bardzo często (80–99%) | W 1 chorobie |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Bardzo często (80–99%) | W 1 chorobie |
| TSEN54tRNA splicing endonuclease subunit 54 | Bardzo często (80–99%) | W 1 chorobie |
| TTC8tetratricopeptide repeat domain 8 | Bardzo często (80–99%) | W 2 chorobach |
| TULP1TUB like protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| USH2Ausherin | Bardzo często (80–99%) | W 2 chorobach |
| WACWW domain containing adaptor with coiled-coil | 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 |
| ABCC6ATP binding cassette subfamily C member 6 | Często (30–79%) | W 3 chorobach |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Często (30–79%) | W 1 chorobie |
| AMACRalpha-methylacyl-CoA racemase | Często (30–79%) | W 1 chorobie |
| ANTXR1ANTXR cell adhesion molecule 1 | Często (30–79%) | W 1 chorobie |
| ARID1AAT-rich interaction domain 1A | Często (30–79%) | W 2 chorobach |
| ARID1BAT-rich interaction domain 1B | Często (30–79%) | W 2 chorobach |
| ARID2AT-rich interaction domain 2 | Często (30–79%) | W 1 chorobie |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Często (30–79%) | W 1 chorobie |
| ATRXATRX chromatin remodeler | Często (30–79%) | W 1 chorobie |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Często (30–79%) | W 1 chorobie |
| BCL11ABCL11 transcription factor A | Często (30–79%) | W 1 chorobie |
| BDNFbrain derived neurotrophic factor | Często (30–79%) | W 1 chorobie |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Często (30–79%) | W 1 chorobie |
| CABP4calcium binding protein 4 | Często (30–79%) | W 2 chorobach |
| CASKcalcium/calmodulin dependent serine protein kinase | Często (30–79%) | W 1 chorobie |
| CCT3chaperonin containing TCP1 subunit 3 | Często (30–79%) | W 1 chorobie |
| CHD6chromodomain helicase DNA binding protein 6 | Często (30–79%) | W 1 chorobie |
| CLIP2CAP-Gly domain containing linker protein 2 | Często (30–79%) | W 1 chorobie |
| COG3component of oligomeric golgi complex 3 | Często (30–79%) | W 1 chorobie |
| COL11A1collagen type XI alpha 1 chain | Często (30–79%) | W 1 chorobie |
| COQ4coenzyme Q4 | Często (30–79%) | W 1 chorobie |
| COX11cytochrome c oxidase copper chaperone COX11 | Często (30–79%) | W 1 chorobie |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Często (30–79%) | W 1 chorobie |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Często (30–79%) | W 1 chorobie |
| DCCDCC netrin 1 receptor | Często (30–79%) | W 2 chorobach |
| DDR2discoidin domain receptor tyrosine kinase 2 | Często (30–79%) | W 1 chorobie |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Często (30–79%) | W 1 chorobie |
| DOCK6dedicator of cytokinesis 6 | Często (30–79%) | W 1 chorobie |
| DPF2double PHD fingers 2 | Często (30–79%) | W 1 chorobie |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Często (30–79%) | W 2 chorobach |
| EIF4Heukaryotic translation initiation factor 4H | Często (30–79%) | W 1 chorobie |
| ELNelastin | Często (30–79%) | W 1 chorobie |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Często (30–79%) | W 2 chorobach |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Często (30–79%) | W 1 chorobie |
| ERCC5ERCC excision repair 5, endonuclease | Często (30–79%) | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Często (30–79%) | W 3 chorobach |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Często (30–79%) | W 2 chorobach |
| FASFas cell surface death receptor | Często (30–79%) | W 1 chorobie |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Często (30–79%) | W 1 chorobie |
| GJA1gap junction protein alpha 1 | Często (30–79%) | W 2 chorobach |
| GLRX5glutaredoxin 5 | Często (30–79%) | W 2 chorobach |
| GNSglucosamine (N-acetyl)-6-sulfatase | Często (30–79%) | W 1 chorobie |
| GSNgelsolin | Często (30–79%) | W 1 chorobie |
| GTF2Igeneral transcription factor IIi | Często (30–79%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Często (30–79%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Często (30–79%) | W 1 chorobie |
| GUCY2Dguanylate cyclase 2D, retinal | Często (30–79%) | W 2 chorobach |
| GUSBglucuronidase beta | Często (30–79%) | W 1 chorobie |
| HIKESHIheat shock protein nuclear import factor hikeshi | Często (30–79%) | W 1 chorobie |
| HLA-Bmajor histocompatibility complex, class I, B | Często (30–79%) | W 3 chorobach |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Często (30–79%) | W 2 chorobach |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Często (30–79%) | W 1 chorobie |
| IBA57iron-sulfur cluster assembly factor IBA57 | Często (30–79%) | W 4 chorobach |
| IGBP1immunoglobulin binding protein 1 | Często (30–79%) | W 1 chorobie |
| JKAMPJNK1/MAPK8 associated membrane protein | Często (30–79%) | W 1 chorobie |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Często (30–79%) | W 2 chorobach |
| LAMP2lysosome associated membrane protein 2 | Często (30–79%) | W 1 chorobie |
| LCA5lebercilin LCA5 | Często (30–79%) | W 2 chorobach |
| LIMK1LIM domain kinase 1 | Często (30–79%) | W 1 chorobie |
| LYRM7LYR motif containing 7 | Często (30–79%) | W 1 chorobie |
| MAB21L1mab-21 like 1 | Często (30–79%) | W 2 chorobach |
| MAFMAF bZIP transcription factor | Często (30–79%) | W 1 chorobie |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Często (30–79%) | W 1 chorobie |
| METTL27methyltransferase like 27 | Często (30–79%) | W 1 chorobie |
| MFFmitochondrial fission factor | Często (30–79%) | W 2 chorobach |
| MMACHCmetabolism of cobalamin associated C | Często (30–79%) | W 2 chorobach |
| MYOCmyocilin | Często (30–79%) | W 1 chorobie |
| NCF1neutrophil cytosolic factor 1 | Często (30–79%) | W 1 chorobie |
| NLRP3NLR family pyrin domain containing 3 | Często (30–79%) | W 1 chorobie |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Często (30–79%) | W 1 chorobie |
| PAX2paired box 2 | Często (30–79%) | W 1 chorobie |
| PEPDpeptidase D | Często (30–79%) | W 1 chorobie |
| PEX7peroxisomal biogenesis factor 7 | Często (30–79%) | W 1 chorobie |
| PHYHphytanoyl-CoA 2-hydroxylase | Często (30–79%) | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Często (30–79%) | W 1 chorobie |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Często (30–79%) | W 1 chorobie |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Często (30–79%) | W 1 chorobie |
| PLK4polo like kinase 4 | Często (30–79%) | W 2 chorobach |
| POGZpogo transposable element derived with ZNF domain | Często (30–79%) | W 2 chorobach |
| POLR1BRNA polymerase I subunit B | Często (30–79%) | W 1 chorobie |
| POLR1CRNA polymerase I and III subunit C | Często (30–79%) | W 1 chorobie |
| POLR1DRNA polymerase I and III subunit D | Często (30–79%) | W 1 chorobie |
| POLR2ARNA polymerase II subunit A | Często (30–79%) | W 1 chorobie |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Często (30–79%) | W 1 chorobie |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Często (30–79%) | W 3 chorobach |
| RELREL proto-oncogene, NF-kB subunit | Często (30–79%) | W 1 chorobie |
| RFC2replication factor C subunit 2 | Często (30–79%) | W 1 chorobie |
| RFT1RFT1 glycolipid translocator homolog | Często (30–79%) | W 1 chorobie |
| ROBO3roundabout guidance receptor 3 | Często (30–79%) | W 1 chorobie |
| RPGRIP1LRPGRIP1 like | Często (30–79%) | W 1 chorobie |
| RTN2reticulon 2 | Często (30–79%) | W 1 chorobie |
| SALL4spalt like transcription factor 4 | Często (30–79%) | W 1 chorobie |
| SETBP1SET binding protein 1 | Często (30–79%) | W 2 chorobach |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Często (30–79%) | W 1 chorobie |
| SLC25A46solute carrier family 25 member 46 | Często (30–79%) | W 1 chorobie |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Często (30–79%) | W 2 chorobach |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Często (30–79%) | W 2 chorobach |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Często (30–79%) | W 1 chorobie |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Często (30–79%) | W 1 chorobie |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Często (30–79%) | W 1 chorobie |
| SMG9SMG9 nonsense mediated mRNA decay factor | Często (30–79%) | W 1 chorobie |
| SOX11SRY-box transcription factor 11 | Często (30–79%) | W 1 chorobie |
| SOX4SRY-box transcription factor 4 | Często (30–79%) | W 1 chorobie |
| SRSF1serine and arginine rich splicing factor 1 | Często (30–79%) | W 1 chorobie |
| STX1Asyntaxin 1A | Często (30–79%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Często (30–79%) | W 1 chorobie |
| TBL2transducin beta like 2 | Często (30–79%) | W 1 chorobie |
| TCOF1treacle ribosome biogenesis factor 1 | Często (30–79%) | W 1 chorobie |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Często (30–79%) | W 2 chorobach |
| TMEM138transmembrane protein 138 | Często (30–79%) | W 1 chorobie |
| TMEM231transmembrane protein 231 | Często (30–79%) | W 1 chorobie |
| TMEM237transmembrane protein 237 | Często (30–79%) | W 1 chorobie |
| TMEM270transmembrane protein 270 | Często (30–79%) | W 1 chorobie |
| TMEM67transmembrane protein 67 | Często (30–79%) | W 1 chorobie |
| TSPAN12tetraspanin 12 | Często (30–79%) | W 1 chorobie |
| TUBGCP4tubulin gamma complex component 4 | Często (30–79%) | W 2 chorobach |
| TUBGCP6tubulin gamma complex component 6 | Często (30–79%) | W 2 chorobach |
| TWIST2twist family bHLH transcription factor 2 | Często (30–79%) | W 1 chorobie |
| TYRtyrosinase | Często (30–79%) | W 4 chorobach |
| VPS37DVPS37D subunit of ESCRT-I | Często (30–79%) | W 1 chorobie |
| WT1WT1 transcription factor | Często (30–79%) | W 1 chorobie |
| XPO1exportin 1 | Często (30–79%) | W 1 chorobie |
| XYLT1xylosyltransferase 1 | Często (30–79%) | W 1 chorobie |
| XYLT2xylosyltransferase 2 | Często (30–79%) | W 2 chorobach |
| ZNF423zinc finger protein 423 | Często (30–79%) | W 1 chorobie |
| ZSCAN10zinc finger and SCAN domain containing 10 | Często (30–79%) | W 1 chorobie |
| AAASaladin WD repeat nucleoporin | Czasami (5–29%) | W 1 chorobie |
| ADAM9ADAM metallopeptidase domain 9 | Czasami (5–29%) | W 2 chorobach |
| ADAMTSL4ADAMTS like 4 | Czasami (5–29%) | W 1 chorobie |
| AGO2argonaute RISC catalytic component 2 | Czasami (5–29%) | W 1 chorobie |
| AIPL1AIP like 1 HSP90 co-chaperone | Czasami (5–29%) | W 1 chorobie |
| ANKHANKH inorganic pyrophosphate transport regulator | Czasami (5–29%) | W 1 chorobie |
| ANKRD11ankyrin repeat domain 11 | Czasami (5–29%) | W 1 chorobie |
| ANOS1anosmin 1 | Czasami (5–29%) | W 1 chorobie |
| ATF6activating transcription factor 6 | Czasami (5–29%) | W 1 chorobie |
| ATMATM serine/threonine kinase | Czasami (5–29%) | W 1 chorobie |
| B3GLCTbeta 3-glucosyltransferase | Czasami (5–29%) | W 1 chorobie |
| BCL10BCL10 immune signaling adaptor | Czasami (5–29%) | W 1 chorobie |
| BCORBCL6 corepressor | Czasami (5–29%) | W 1 chorobie |
| BIRC3baculoviral IAP repeat containing 3 | Czasami (5–29%) | W 1 chorobie |
| BMPR1Abone morphogenetic protein receptor type 1A | Czasami (5–29%) | W 1 chorobie |
| BOLA3bolA family member 3 | Czasami (5–29%) | W 1 chorobie |
| BRCA1BRCA1 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| BRCA2BRCA2 DNA repair associated | Czasami (5–29%) | W 2 chorobach |
| BRIP1BRCA1 interacting DNA helicase 1 | Czasami (5–29%) | W 1 chorobie |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Czasami (5–29%) | W 3 chorobach |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Czasami (5–29%) | W 2 chorobach |
| CALRcalreticulin | 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 |
| CCDC141coiled-coil domain containing 141 | Czasami (5–29%) | W 1 chorobie |
| CDK8cyclin dependent kinase 8 | Czasami (5–29%) | W 1 chorobie |
| CFAP410cilia and flagella associated protein 410 | Czasami (5–29%) | W 1 chorobie |
| CHD7chromodomain helicase DNA binding protein 7 | Czasami (5–29%) | W 1 chorobie |
| CHEK2checkpoint kinase 2 | Czasami (5–29%) | W 1 chorobie |
| CLTCclathrin heavy chain | Czasami (5–29%) | W 1 chorobie |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Czasami (5–29%) | W 1 chorobie |
| COL2A1collagen type II alpha 1 chain | Czasami (5–29%) | W 1 chorobie |
| COX7Bcytochrome c oxidase subunit 7B | Czasami (5–29%) | W 1 chorobie |
| CSF1Rcolony stimulating factor 1 receptor | Czasami (5–29%) | W 1 chorobie |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Czasami (5–29%) | W 1 chorobie |
| DDX3XDEAD-box helicase 3 X-linked | Czasami (5–29%) | W 1 chorobie |
| DOLKdolichol kinase | Czasami (5–29%) | W 1 chorobie |
| DRAM2DNA damage regulated autophagy modulator 2 | Czasami (5–29%) | W 1 chorobie |
| DUSP6dual specificity phosphatase 6 | Czasami (5–29%) | W 1 chorobie |
| EMX2empty spiracles homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Czasami (5–29%) | W 1 chorobie |
| EPCAMepithelial cell adhesion molecule | Czasami (5–29%) | W 1 chorobie |
| FAAP100FA core complex associated protein 100 | Czasami (5–29%) | W 1 chorobie |
| FANCAFA complementation group A | Czasami (5–29%) | W 1 chorobie |
| FANCBFA complementation group B | Czasami (5–29%) | W 1 chorobie |
| FANCCFA complementation group C | Czasami (5–29%) | W 1 chorobie |
| FANCD2FA complementation group D2 | Czasami (5–29%) | W 1 chorobie |
| FANCEFA complementation group E | Czasami (5–29%) | W 1 chorobie |
| FANCFFA complementation group F | Czasami (5–29%) | W 1 chorobie |
| FANCGFA complementation group G | Czasami (5–29%) | W 1 chorobie |
| FANCIFA complementation group I | Czasami (5–29%) | W 1 chorobie |
| FANCLFA complementation group L | Czasami (5–29%) | W 1 chorobie |
| FANCMFA complementation group M | Czasami (5–29%) | W 1 chorobie |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| FBN1fibrillin 1 | Czasami (5–29%) | W 1 chorobie |
| FBXO22F-box protein 22 | Czasami (5–29%) | W 1 chorobie |
| FEZF1FEZ family zinc finger 1 | 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 |
| FGFR2fibroblast growth factor receptor 2 | Czasami (5–29%) | W 2 chorobach |
| FGFR3fibroblast growth factor receptor 3 | Czasami (5–29%) | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Czasami (5–29%) | W 1 chorobie |
| FILIP1filamin A interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Czasami (5–29%) | W 1 chorobie |
| FN1fibronectin 1 | Czasami (5–29%) | W 1 chorobie |
| FOXP1forkhead box P1 | Czasami (5–29%) | W 1 chorobie |
| FXNfrataxin | 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 1 chorobie |
| GMPPAGDP-mannose pyrophosphorylase A | Czasami (5–29%) | W 1 chorobie |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Czasami (5–29%) | W 2 chorobach |
| GPR143G protein-coupled receptor 143 | Czasami (5–29%) | W 1 chorobie |
| GTPBP3GTP binding protein 3, mitochondrial | Czasami (5–29%) | W 2 chorobach |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Czasami (5–29%) | W 1 chorobie |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Czasami (5–29%) | W 1 chorobie |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| IGHimmunoglobulin heavy locus | Czasami (5–29%) | W 1 chorobie |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Czasami (5–29%) | W 1 chorobie |
| IKZF1IKAROS family zinc finger 1 | Czasami (5–29%) | W 1 chorobie |
| IL12Binterleukin 12B | Czasami (5–29%) | W 1 chorobie |
| IL17RDinterleukin 17 receptor D | Czasami (5–29%) | W 1 chorobie |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Czasami (5–29%) | W 1 chorobie |
| JAK2Janus kinase 2 | Czasami (5–29%) | W 1 chorobie |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Czasami (5–29%) | W 1 chorobie |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Czasami (5–29%) | W 1 chorobie |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Czasami (5–29%) | W 1 chorobie |
| KRASKRas proto-oncogene, GTPase | Czasami (5–29%) | W 1 chorobie |
| LAMA3laminin subunit alpha 3 | Czasami (5–29%) | W 1 chorobie |
| LAMB2laminin subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| LCATlecithin-cholesterol acyltransferase | 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 |
| MAD2L2mitotic arrest deficient 2 like 2 | Czasami (5–29%) | W 1 chorobie |
| MALT1MALT1 paracaspase | Czasami (5–29%) | W 1 chorobie |
| MLH1mutL homolog 1 | Czasami (5–29%) | W 1 chorobie |
| MLXMAX dimerization protein MLX | Czasami (5–29%) | W 1 chorobie |
| MMP23Bmatrix metallopeptidase 23B | Czasami (5–29%) | W 1 chorobie |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Czasami (5–29%) | W 1 chorobie |
| MPLMPL proto-oncogene, thrombopoietin receptor | Czasami (5–29%) | W 1 chorobie |
| MSH2mutS homolog 2 | Czasami (5–29%) | W 1 chorobie |
| MSH6mutS homolog 6 | Czasami (5–29%) | W 1 chorobie |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Czasami (5–29%) | W 1 chorobie |
| MUTYHmutY DNA glycosylase | Czasami (5–29%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NDNFneuron derived neurotrophic factor | Czasami (5–29%) | W 1 chorobie |
| NOTCH3notch receptor 3 | Czasami (5–29%) | W 1 chorobie |
| NPATnuclear protein, coactivator of histone transcription | Czasami (5–29%) | W 1 chorobie |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Czasami (5–29%) | W 1 chorobie |
| OPN1LWopsin 1, long wave sensitive | Czasami (5–29%) | W 3 chorobach |
| OPN1MWopsin 1, medium wave sensitive | Czasami (5–29%) | W 3 chorobach |
| PALB2partner and localizer of BRCA2 | Czasami (5–29%) | W 1 chorobie |
| PDE4Dphosphodiesterase 4D | Czasami (5–29%) | W 1 chorobie |
| PDPNpodoplanin | Czasami (5–29%) | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Czasami (5–29%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PITPNM3PITPNM family member 3 | Czasami (5–29%) | W 1 chorobie |
| PLCB1phospholipase C beta 1 | Czasami (5–29%) | W 1 chorobie |
| PLXND1plexin D1 | Czasami (5–29%) | W 1 chorobie |
| PMS1PMS1 homolog 1, mismatch repair system component | Czasami (5–29%) | W 1 chorobie |
| PMS2PMS1 homolog 2, mismatch repair system component | Czasami (5–29%) | W 1 chorobie |
| POC1BPOC1 centriolar protein B | Czasami (5–29%) | W 2 chorobach |
| POLD1DNA polymerase delta 1, catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| POLEDNA polymerase epsilon, catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| POLGDNA polymerase gamma, catalytic subunit | Czasami (5–29%) | W 3 chorobach |
| POLG2DNA polymerase gamma 2, accessory subunit | Czasami (5–29%) | W 1 chorobie |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Czasami (5–29%) | W 1 chorobie |
| PRDM16PR/SET domain 16 | Czasami (5–29%) | W 1 chorobie |
| PRKCZprotein kinase C zeta | Czasami (5–29%) | W 1 chorobie |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| PROK2prokineticin 2 | Czasami (5–29%) | W 1 chorobie |
| PRTN3proteinase 3 | Czasami (5–29%) | W 1 chorobie |
| PUS3pseudouridine synthase 3 | Czasami (5–29%) | W 1 chorobie |
| RAB11BRAB11B, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RAB28RAB28, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RAB3ARAB3A, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RAD51RAD51 recombinase | Czasami (5–29%) | W 1 chorobie |
| RAD51CRAD51 paralog C | Czasami (5–29%) | W 1 chorobie |
| RAX2retina and anterior neural fold homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| REREarginine-glutamic acid dipeptide repeats | Czasami (5–29%) | W 1 chorobie |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| RFWD3ring finger and WD repeat domain 3 | Czasami (5–29%) | W 1 chorobie |
| RIMS1regulating synaptic membrane exocytosis 1 | Czasami (5–29%) | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Czasami (5–29%) | W 1 chorobie |
| RPGRIP1RPGR interacting protein 1 | Czasami (5–29%) | W 2 chorobach |
| RPS20ribosomal protein S20 | Czasami (5–29%) | W 1 chorobie |
| RRM1ribonucleotide reductase catalytic subunit M1 | Czasami (5–29%) | W 1 chorobie |
| SAR1Bsecretion associated Ras related GTPase 1B | Czasami (5–29%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Czasami (5–29%) | W 1 chorobie |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Czasami (5–29%) | W 1 chorobie |
| SEMA3Asemaphorin 3A | Czasami (5–29%) | W 1 chorobie |
| SH2B3SH2B adaptor protein 3 | Czasami (5–29%) | W 1 chorobie |
| SH3BP2SH3 domain binding protein 2 | Czasami (5–29%) | W 2 chorobach |
| SKISKI proto-oncogene | Czasami (5–29%) | W 1 chorobie |
| SLC12A5solute carrier family 12 member 5 | Czasami (5–29%) | W 1 chorobie |
| SLC25A22solute carrier family 25 member 22 | Czasami (5–29%) | W 1 chorobie |
| SLC25A4solute carrier family 25 member 4 | Czasami (5–29%) | W 1 chorobie |
| SLC39A4solute carrier family 39 member 4 | Czasami (5–29%) | W 1 chorobie |
| SLX4SLX4 structure-specific endonuclease subunit | Czasami (5–29%) | W 1 chorobie |
| SOBPsine oculis binding protein homolog | Czasami (5–29%) | W 1 chorobie |
| SOX10SRY-box transcription factor 10 | Czasami (5–29%) | W 1 chorobie |
| SPENspen family transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Czasami (5–29%) | W 2 chorobach |
| SPRY4sprouty RTK signaling antagonist 4 | Czasami (5–29%) | W 1 chorobie |
| SRYsex determining region Y | Czasami (5–29%) | W 1 chorobie |
| TACR3tachykinin receptor 3 | Czasami (5–29%) | W 1 chorobie |
| TAOK1TAO kinase 1 | Czasami (5–29%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Czasami (5–29%) | W 1 chorobie |
| TCP1t-complex 1 | Czasami (5–29%) | W 1 chorobie |
| TET2tet methylcytosine dioxygenase 2 | Czasami (5–29%) | W 1 chorobie |
| TGFBR2transforming growth factor beta receptor 2 | Czasami (5–29%) | W 1 chorobie |
| THOC2THO complex subunit 2 | Czasami (5–29%) | W 1 chorobie |
| TK2thymidine kinase 2 | Czasami (5–29%) | W 1 chorobie |
| TLCD3BTLC domain containing 3B | Czasami (5–29%) | W 1 chorobie |
| TOP3ADNA topoisomerase III alpha | Czasami (5–29%) | W 1 chorobie |
| TP53tumor protein p53 | Czasami (5–29%) | W 2 chorobach |
| TRAPPC11trafficking protein particle complex subunit 11 | Czasami (5–29%) | W 1 chorobie |
| TRRAPtransformation/transcription domain associated protein | Czasami (5–29%) | W 1 chorobie |
| TTLL5tubulin tyrosine ligase like 5 | Czasami (5–29%) | W 1 chorobie |
| TTPAalpha tocopherol transfer protein | Czasami (5–29%) | W 1 chorobie |
| TUBB4Atubulin beta 4A class IVa | Czasami (5–29%) | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Czasami (5–29%) | W 1 chorobie |
| UBAP1Lubiquitin associated protein 1 like | Czasami (5–29%) | W 1 chorobie |
| UBAP2Lubiquitin associated protein 2 like | Czasami (5–29%) | W 1 chorobie |
| UBE2Tubiquitin conjugating enzyme E2 T | Czasami (5–29%) | W 1 chorobie |
| UBE4Bubiquitination factor E4B | Czasami (5–29%) | W 1 chorobie |
| UNC119unc-119 lipid binding chaperone | Czasami (5–29%) | W 1 chorobie |
| WDR11WD repeat domain 11 | Czasami (5–29%) | W 1 chorobie |
| XRCC2X-ray repair cross complementing 2 | Czasami (5–29%) | W 1 chorobie |
| YAP1Yes1 associated transcriptional regulator | Czasami (5–29%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| ACBD6acyl-CoA binding domain containing 6 | Rzadko (1–4%) | W 1 chorobie |
| BRAT1BRCA1 associated ATM activator 1 | Rzadko (1–4%) | W 1 chorobie |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| FDX2ferredoxin 2 | Rzadko (1–4%) | W 1 chorobie |
| GRK1G protein-coupled receptor kinase 1 | Rzadko (1–4%) | W 1 chorobie |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Rzadko (1–4%) | W 1 chorobie |
| ABCA1ATP binding cassette subfamily A member 1 | Nie odnotowano | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Nie odnotowano | W 1 chorobie |
| ARXaristaless related homeobox | Nie odnotowano | W 1 chorobie |
| CA2carbonic anhydrase 2 | Nie odnotowano | W 1 chorobie |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Nie odnotowano | W 1 chorobie |
| CKAP2Lcytoskeleton associated protein 2L | Nie odnotowano | W 1 chorobie |
| CNTNAP1contactin associated protein 1 | Nie odnotowano | W 1 chorobie |
| COL17A1collagen type XVII alpha 1 chain | Nie odnotowano | W 1 chorobie |
| COQ7coenzyme Q7, hydroxylase | Nie odnotowano | W 1 chorobie |
| CRYAAcrystallin alpha A | Nie odnotowano | W 1 chorobie |
| CRYGCcrystallin gamma C | Nie odnotowano | W 1 chorobie |
| DTNBP1dystrobrevin binding protein 1 | Nie odnotowano | W 1 chorobie |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| ELOVL4ELOVL fatty acid elongase 4 | Nie odnotowano | W 1 chorobie |
| FHfumarate hydratase | Nie odnotowano | W 1 chorobie |
| GDF3growth differentiation factor 3 | Nie odnotowano | W 1 chorobie |
| GDF6growth differentiation factor 6 | Nie odnotowano | W 1 chorobie |
| GPR179G protein-coupled receptor 179 | Nie odnotowano | W 1 chorobie |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Nie odnotowano | W 1 chorobie |
| HPS3HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | Nie odnotowano | W 1 chorobie |
| ISCA2iron-sulfur cluster assembly 2 | Nie odnotowano | W 1 chorobie |
| LRPAP1LDL receptor related protein associated protein 1 | Nie odnotowano | W 1 chorobie |
| MBD5methyl-CpG binding domain protein 5 | Nie odnotowano | W 1 chorobie |
| MC1Rmelanocortin 1 receptor | Nie odnotowano | W 1 chorobie |
| MCOLN1mucolipin TRP cation channel 1 | Nie odnotowano | W 1 chorobie |
| MIR184microRNA 184 | Nie odnotowano | W 1 chorobie |
| OCA2OCA2 melanosomal transmembrane protein | Nie odnotowano | W 1 chorobie |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Nie odnotowano | W 1 chorobie |
| OSGEPO-sialoglycoprotein endopeptidase | Nie odnotowano | W 1 chorobie |
| PHF6PHD finger protein 6 | Nie odnotowano | W 1 chorobie |
| PHOX2Apaired like homeobox 2A | Nie odnotowano | W 1 chorobie |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Nie odnotowano | W 1 chorobie |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Nie odnotowano | W 1 chorobie |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Nie odnotowano | W 1 chorobie |
| POLA1DNA polymerase alpha 1, catalytic subunit | Nie odnotowano | W 1 chorobie |
| POMKprotein O-mannose kinase | Nie odnotowano | W 1 chorobie |
| PORCNporcupine O-acyltransferase | Nie odnotowano | W 1 chorobie |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Nie odnotowano | W 1 chorobie |
| PRDX1peroxiredoxin 1 | Nie odnotowano | W 1 chorobie |
| PRNPprion protein (Kanno blood group) | Nie odnotowano | W 1 chorobie |
| RBP4retinol binding protein 4 | Nie odnotowano | W 1 chorobie |
| SLC45A2solute carrier family 45 member 2 | Nie odnotowano | W 1 chorobie |
| SYT1synaptotagmin 1 | Nie odnotowano | W 1 chorobie |
| TACSTD2tumor associated calcium signal transducer 2 | Nie odnotowano | W 1 chorobie |
| TCF4transcription factor 4 | Nie odnotowano | W 1 chorobie |
| TDO2tryptophan 2,3-dioxygenase | Nie odnotowano | W 1 chorobie |
| TMEM126Atransmembrane protein 126A | Nie odnotowano | W 1 chorobie |
| TP53RKTP53 regulating kinase | Nie odnotowano | W 1 chorobie |
| TREX1three prime repair exonuclease 1 | Nie odnotowano | W 1 chorobie |
| TSEN34tRNA splicing endonuclease subunit 34 | Nie odnotowano | W 1 chorobie |
| TSFMTs translation elongation factor, mitochondrial | Nie odnotowano | W 1 chorobie |
| TTRtransthyretin | Nie odnotowano | W 1 chorobie |
| USP45ubiquitin specific peptidase 45 | Nie odnotowano | W 1 chorobie |
| VPS13Bvacuolar protein sorting 13 homolog B | Nie odnotowano | W 1 chorobie |
| WDR45BWD repeat domain 45B | 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
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.
Jeden test. Odpowiedzi na całe życie.
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