Cecha
Clouding of the lens of the eye
Nazwa kliniczna: Cataract
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Podsumowanie
- Znana także jako
- Cloudy lens, Cataracts, Lens opacities, Lens opacity
- 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 Clouding of the lens of the eye, and the rest of your genome, with one test.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test653 genów powiązanych z Clouding of the lens of the eye
Zmiany w tych genach powodują rzadkie choroby, w których występuje Clouding of the lens of the eye. 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 |
|---|---|---|
| AGKacylglycerol kinase | Zawsze | W 2 chorobach |
| AMACRalpha-methylacyl-CoA racemase | Zawsze | W 2 chorobach |
| ARL2ARF like GTPase 2 | Zawsze | W 1 chorobie |
| ATP11AATPase phospholipid transporting 11A | Zawsze | W 1 chorobie |
| BBIP1BBSome interacting protein 1 | Zawsze | W 2 chorobach |
| BCKDKbranched chain keto acid dehydrogenase kinase | Zawsze | W 1 chorobie |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Zawsze | W 2 chorobach |
| COL11A1collagen type XI alpha 1 chain | Zawsze | W 4 chorobach |
| COL9A1collagen type IX alpha 1 chain | Zawsze | W 2 chorobach |
| COPB1coat protein complex I subunit beta 1 | Zawsze | W 1 chorobie |
| CPAMD8C3 and PZP like alpha-2-macroglobulin domain containing 8 | Zawsze | W 1 chorobie |
| CRYBA2crystallin beta A2 | Zawsze | W 1 chorobie |
| DNA2DNA replication helicase/nuclease 2 | Zawsze | W 1 chorobie |
| DNMBPdynamin binding protein | Zawsze | W 1 chorobie |
| EEDembryonic ectoderm development | Zawsze | W 1 chorobie |
| EIF2B2eukaryotic translation initiation factor 2B subunit beta | Zawsze | W 1 chorobie |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Zawsze | W 5 chorobach |
| ERCC5ERCC excision repair 5, endonuclease | Zawsze | W 3 chorobach |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Zawsze | W 3 chorobach |
| FAR1fatty acyl-CoA reductase 1 | Zawsze | W 2 chorobach |
| FLNAfilamin A | Zawsze | W 2 chorobach |
| FOXE3forkhead box E3 | Zawsze | W 1 chorobie |
| GEMIN4gem nuclear organelle associated protein 4 | Zawsze | W 1 chorobie |
| GNPATglyceronephosphate O-acyltransferase | Zawsze | W 1 chorobie |
| GSRglutathione-disulfide reductase | Zawsze | W 1 chorobie |
| HMX1H6 family homeobox 1 | Zawsze | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Zawsze | W 3 chorobach |
| INPP5Kinositol polyphosphate-5-phosphatase K | Zawsze | W 1 chorobie |
| INTS1integrator complex subunit 1 | Zawsze | W 1 chorobie |
| JAM3junctional adhesion molecule 3 | Zawsze | W 1 chorobie |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Zawsze | W 3 chorobach |
| LIM2lens intrinsic membrane protein 2 | Zawsze | W 1 chorobie |
| LONP1lon peptidase 1, mitochondrial | Zawsze | W 2 chorobach |
| LOXL3lysyl oxidase like 3 | Zawsze | W 2 chorobach |
| MAP2K2mitogen-activated protein kinase kinase 2 | Zawsze | W 1 chorobie |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Zawsze | W 2 chorobach |
| MRPS28mitochondrial ribosomal protein S28 | Zawsze | W 1 chorobie |
| MSL2MSL complex subunit 2 | Zawsze | W 1 chorobie |
| MVKmevalonate kinase | Zawsze | W 2 chorobach |
Pokaż jeszcze 613 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| MYMKmyomaker, myoblast fusion factor | Zawsze | W 1 chorobie |
| NOP10NOP10 ribonucleoprotein | Zawsze | W 2 chorobach |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Zawsze | W 1 chorobie |
| PDE6Bphosphodiesterase 6B | Zawsze | W 1 chorobie |
| PEX26peroxisomal biogenesis factor 26 | Zawsze | W 4 chorobach |
| PEX3peroxisomal biogenesis factor 3 | Zawsze | W 5 chorobach |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Zawsze | W 1 chorobie |
| POMT2protein O-mannosyltransferase 2 | Zawsze | W 5 chorobach |
| PXDNperoxidasin | Zawsze | W 1 chorobie |
| RAB18RAB18, member RAS oncogene family | Zawsze | W 2 chorobach |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Zawsze | W 3 chorobach |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Zawsze | W 5 chorobach |
| RBM8ARNA binding motif protein 8A | Zawsze | W 1 chorobie |
| RDH11retinol dehydrogenase 11 | Zawsze | W 1 chorobie |
| RFC4replication factor C subunit 4 | Zawsze | W 1 chorobie |
| RNH1ribonuclease/angiogenin inhibitor 1 | Zawsze | W 1 chorobie |
| SC5Dsterol-C5-desaturase | Zawsze | W 2 chorobach |
| SLC25A4solute carrier family 25 member 4 | Zawsze | W 3 chorobach |
| SLC4A4solute carrier family 4 member 4 | Zawsze | W 1 chorobie |
| SNAPINSNAP associated protein | Zawsze | W 1 chorobie |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Zawsze | W 1 chorobie |
| SRD5A3steroid 5 alpha-reductase 3 | Zawsze | W 3 chorobach |
| UBA5ubiquitin like modifier activating enzyme 5 | Zawsze | W 1 chorobie |
| UBAP1Lubiquitin associated protein 1 like | Zawsze | W 1 chorobie |
| WDR19WD repeat domain 19 | Zawsze | W 2 chorobach |
| WRNWRN RecQ like helicase | Zawsze | W 2 chorobach |
| XYLT2xylosyltransferase 2 | Zawsze | W 2 chorobach |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Zawsze | W 1 chorobie |
| ZNF526zinc finger protein 526 | Zawsze | W 1 chorobie |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Bardzo często (80–99%) | W 4 chorobach |
| ASPHaspartate beta-hydroxylase | Bardzo często (80–99%) | W 1 chorobie |
| ATOH7atonal bHLH transcription factor 7 | Bardzo często (80–99%) | W 2 chorobach |
| BCORBCL6 corepressor | Bardzo często (80–99%) | W 2 chorobach |
| BMP4bone morphogenetic protein 4 | Bardzo często (80–99%) | W 2 chorobach |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Bardzo często (80–99%) | W 1 chorobie |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Bardzo często (80–99%) | W 2 chorobach |
| BUB3BUB3 mitotic checkpoint protein | Bardzo często (80–99%) | W 1 chorobie |
| CEP57centrosomal protein 57 | Bardzo często (80–99%) | W 1 chorobie |
| CLPBClpB family mitochondrial disaggregase | Bardzo często (80–99%) | W 3 chorobach |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Bardzo często (80–99%) | W 1 chorobie |
| COG4component of oligomeric golgi complex 4 | Bardzo często (80–99%) | W 2 chorobach |
| COL2A1collagen type II alpha 1 chain | Bardzo często (80–99%) | W 7 chorobach |
| CRYAAcrystallin alpha A | Bardzo często (80–99%) | W 2 chorobach |
| CRYBA4crystallin beta A4 | Bardzo często (80–99%) | W 1 chorobie |
| CRYBB1crystallin beta B1 | Bardzo często (80–99%) | W 1 chorobie |
| CRYBB2crystallin beta B2 | Bardzo często (80–99%) | W 1 chorobie |
| CRYGCcrystallin gamma C | Bardzo często (80–99%) | W 1 chorobie |
| CRYGDcrystallin gamma D | Bardzo często (80–99%) | W 1 chorobie |
| CTDP1CTD phosphatase 1 | Bardzo często (80–99%) | W 1 chorobie |
| EPG5ectopic P-granules 5 autophagy tethering factor | Bardzo często (80–99%) | W 2 chorobach |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Bardzo często (80–99%) | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Bardzo często (80–99%) | W 4 chorobach |
| FTLferritin light chain | Bardzo często (80–99%) | W 3 chorobach |
| FZD4frizzled class receptor 4 | Bardzo często (80–99%) | W 3 chorobach |
| GBA2glucosylceramidase beta 2 | Bardzo często (80–99%) | W 2 chorobach |
| GJA8gap junction protein alpha 8 | Bardzo często (80–99%) | W 2 chorobach |
| LSSlanosterol synthase | Bardzo często (80–99%) | W 1 chorobie |
| MAFMAF bZIP transcription factor | Bardzo często (80–99%) | W 2 chorobach |
| NAGAalpha-N-acetylgalactosaminidase | Bardzo często (80–99%) | W 1 chorobie |
| NDPnorrin cystine knot growth factor NDP | Bardzo często (80–99%) | W 6 chorobach |
| NHSNHS actin remodeling regulator | Bardzo często (80–99%) | W 1 chorobie |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Bardzo często (80–99%) | W 1 chorobie |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Bardzo często (80–99%) | W 2 chorobach |
| P3H2prolyl 3-hydroxylase 2 | Bardzo często (80–99%) | W 1 chorobie |
| PAX6paired box 6 | Bardzo często (80–99%) | W 6 chorobach |
| PEX7peroxisomal biogenesis factor 7 | Bardzo często (80–99%) | W 3 chorobach |
| PHYHphytanoyl-CoA 2-hydroxylase | Bardzo często (80–99%) | W 2 chorobach |
| PTCH1patched 1 | Bardzo często (80–99%) | W 3 chorobach |
| PTH1Rparathyroid hormone 1 receptor | Bardzo często (80–99%) | W 1 chorobie |
| SIL1SIL1 nucleotide exchange factor | Bardzo często (80–99%) | W 1 chorobie |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Bardzo często (80–99%) | W 2 chorobach |
| TBC1D20TBC1 domain family member 20 | Bardzo często (80–99%) | W 1 chorobie |
| TKFCtriokinase and FMN cyclase | Bardzo często (80–99%) | W 2 chorobach |
| TRIP13thyroid hormone receptor interactor 13 | Bardzo często (80–99%) | W 1 chorobie |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Bardzo często (80–99%) | W 1 chorobie |
| ZBTB20zinc finger and BTB domain containing 20 | Bardzo często (80–99%) | W 1 chorobie |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Często (30–79%) | W 1 chorobie |
| ACTBactin beta | Często (30–79%) | W 2 chorobach |
| ADGRV1adhesion G protein-coupled receptor V1 | Często (30–79%) | W 1 chorobie |
| AFF4ALF transcription elongation factor 4 | Często (30–79%) | W 2 chorobach |
| AIPL1AIP like 1 HSP90 co-chaperone | Często (30–79%) | W 1 chorobie |
| AIREautoimmune regulator | Często (30–79%) | W 2 chorobach |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Często (30–79%) | W 2 chorobach |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Często (30–79%) | W 1 chorobie |
| ALMS1ALMS1 centrosome and basal body associated protein | Często (30–79%) | W 2 chorobach |
| ALX1ALX homeobox 1 | Często (30–79%) | W 1 chorobie |
| ALX3ALX homeobox 3 | Często (30–79%) | W 2 chorobach |
| ANO1anoctamin 1 | Często (30–79%) | W 1 chorobie |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Często (30–79%) | W 1 chorobie |
| ARHGAP31Rho GTPase activating protein 31 | Często (30–79%) | W 1 chorobie |
| ATP6V1AATPase H+ transporting V1 subunit A | Często (30–79%) | W 1 chorobie |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Często (30–79%) | W 3 chorobach |
| B3GLCTbeta 3-glucosyltransferase | Często (30–79%) | W 2 chorobach |
| B9D1B9 domain containing 1 | Często (30–79%) | W 1 chorobie |
| B9D2B9 domain containing 2 | Często (30–79%) | W 1 chorobie |
| BBS9Bardet-Biedl syndrome 9 | Często (30–79%) | W 2 chorobach |
| BDNFbrain derived neurotrophic factor | Często (30–79%) | W 1 chorobie |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Często (30–79%) | W 1 chorobie |
| BUD13BUD13 spliceosome associated protein | Często (30–79%) | W 1 chorobie |
| CABP4calcium binding protein 4 | Często (30–79%) | W 1 chorobie |
| CAV1caveolin 1 | Często (30–79%) | W 1 chorobie |
| CC2D2Acoiled-coil and C2 domain containing 2A | Często (30–79%) | W 2 chorobach |
| CDH11cadherin 11 | Często (30–79%) | W 1 chorobie |
| CDH23cadherin related 23 | Często (30–79%) | W 1 chorobie |
| CEP290centrosomal protein 290 | Często (30–79%) | W 4 chorobach |
| CHD7chromodomain helicase DNA binding protein 7 | Często (30–79%) | W 1 chorobie |
| COL4A5collagen type IV alpha 5 chain | Często (30–79%) | W 2 chorobach |
| COL4A6collagen type IV alpha 6 chain | Często (30–79%) | W 1 chorobie |
| COL9A2collagen type IX alpha 2 chain | Często (30–79%) | W 1 chorobie |
| COL9A3collagen type IX alpha 3 chain | Często (30–79%) | W 1 chorobie |
| CRB1crumbs cell polarity complex component 1 | Często (30–79%) | W 2 chorobach |
| CRPPACDP-L-ribitol pyrophosphorylase A | Często (30–79%) | W 3 chorobach |
| CRXcone-rod homeobox | Często (30–79%) | W 2 chorobach |
| CSPP1centrosome and spindle pole associated protein 1 | Często (30–79%) | W 1 chorobie |
| DAG1dystroglycan 1 | Często (30–79%) | W 3 chorobach |
| DDB2damage specific DNA binding protein 2 | Często (30–79%) | W 1 chorobie |
| DKC1dyskerin pseudouridine synthase 1 | Często (30–79%) | W 3 chorobach |
| DLL4delta like canonical Notch ligand 4 | Często (30–79%) | W 1 chorobie |
| DOCK6dedicator of cytokinesis 6 | Często (30–79%) | W 1 chorobie |
| EBPEBP cholestenol delta-isomerase | Często (30–79%) | W 4 chorobach |
| ELP4elongator acetyltransferase complex subunit 4 | Często (30–79%) | W 1 chorobie |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Często (30–79%) | W 1 chorobie |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Często (30–79%) | W 2 chorobach |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Często (30–79%) | W 3 chorobach |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Często (30–79%) | W 2 chorobach |
| ESPNespin | Często (30–79%) | W 1 chorobie |
| FASFas cell surface death receptor | Często (30–79%) | W 2 chorobach |
| FBN1fibrillin 1 | Często (30–79%) | W 5 chorobach |
| FBXL4F-box and leucine rich repeat protein 4 | Często (30–79%) | W 1 chorobie |
| FDXRferredoxin reductase | Często (30–79%) | W 2 chorobach |
| FIG4FIG4 phosphoinositide 5-phosphatase | Często (30–79%) | W 2 chorobach |
| FKRPfukutin related protein | Często (30–79%) | W 5 chorobach |
| FKTNfukutin | Często (30–79%) | W 5 chorobach |
| FOSL2FOS like 2, AP-1 transcription factor subunit | Często (30–79%) | W 1 chorobie |
| FOXC1forkhead box C1 | Często (30–79%) | W 1 chorobie |
| FOXC2forkhead box C2 | Często (30–79%) | W 1 chorobie |
| GALEUDP-galactose-4-epimerase | Często (30–79%) | W 1 chorobie |
| GALK1galactokinase 1 | Często (30–79%) | W 2 chorobach |
| GALMgalactose mutarotase | Często (30–79%) | W 2 chorobach |
| GALTgalactose-1-phosphate uridylyltransferase | Często (30–79%) | W 2 chorobach |
| GDF6growth differentiation factor 6 | Często (30–79%) | W 1 chorobie |
| GJA1gap junction protein alpha 1 | Często (30–79%) | W 4 chorobach |
| GJB3gap junction protein beta 3 | Często (30–79%) | W 1 chorobie |
| GJB4gap junction protein beta 4 | Często (30–79%) | W 1 chorobie |
| GLAgalactosidase alpha | Często (30–79%) | W 1 chorobie |
| GMPPBGDP-mannose pyrophosphorylase B | Często (30–79%) | W 6 chorobach |
| GNASGNAS complex locus | Często (30–79%) | W 6 chorobach |
| GSNgelsolin | Często (30–79%) | W 2 chorobach |
| GTF2H5general transcription factor IIH subunit 5 | Często (30–79%) | W 1 chorobie |
| GUCY2Dguanylate cyclase 2D, retinal | Często (30–79%) | W 2 chorobach |
| HLA-Amajor histocompatibility complex, class I, A | Często (30–79%) | W 1 chorobie |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Często (30–79%) | W 2 chorobach |
| HMBShydroxymethylbilane synthase | Często (30–79%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Często (30–79%) | W 4 chorobach |
| IFT140intraflagellar transport 140 | Często (30–79%) | W 2 chorobach |
| IMPDH1inosine monophosphate dehydrogenase 1 | Często (30–79%) | W 1 chorobie |
| INPP5Einositol polyphosphate-5-phosphatase E | Często (30–79%) | W 2 chorobach |
| IQCB1IQ motif containing B1 | Często (30–79%) | W 2 chorobach |
| ITPAinosine triphosphatase | Często (30–79%) | W 1 chorobie |
| KCTD1potassium channel tetramerization domain containing 1 | Często (30–79%) | W 2 chorobach |
| KDSR3-ketodihydrosphingosine reductase | Często (30–79%) | W 1 chorobie |
| LAMB2laminin subunit beta 2 | Często (30–79%) | W 3 chorobach |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Często (30–79%) | W 3 chorobach |
| LCA5lebercilin LCA5 | Często (30–79%) | W 1 chorobie |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Często (30–79%) | W 1 chorobie |
| LRATlecithin retinol acyltransferase | Często (30–79%) | W 1 chorobie |
| MAN2B1mannosidase alpha class 2B member 1 | Często (30–79%) | W 2 chorobach |
| MAPKAPK5MAPK activated protein kinase 5 | Często (30–79%) | W 1 chorobie |
| MAXMYC associated transcriptional regulator X | Często (30–79%) | W 1 chorobie |
| MED25mediator complex subunit 25 | Często (30–79%) | W 1 chorobie |
| MED27mediator complex subunit 27 | Często (30–79%) | W 1 chorobie |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Często (30–79%) | W 1 chorobie |
| MIPEPmitochondrial intermediate peptidase | Często (30–79%) | W 1 chorobie |
| MITFmelanocyte inducing transcription factor | Często (30–79%) | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Często (30–79%) | W 2 chorobach |
| MYO7Amyosin VIIA | Często (30–79%) | W 2 chorobach |
| NACC1nucleus accumbens associated 1 | Często (30–79%) | W 1 chorobie |
| NEU1neuraminidase 1 | Często (30–79%) | W 4 chorobach |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Często (30–79%) | W 2 chorobach |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Często (30–79%) | W 2 chorobach |
| NOD2nucleotide binding oligomerization domain containing 2 | Często (30–79%) | W 2 chorobach |
| NOTCH1notch receptor 1 | Często (30–79%) | W 1 chorobie |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Często (30–79%) | W 1 chorobie |
| OATornithine aminotransferase | Często (30–79%) | W 1 chorobie |
| OTX2orthodenticle homeobox 2 | Często (30–79%) | W 2 chorobach |
| PCDH15protocadherin related 15 | Często (30–79%) | W 1 chorobie |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Często (30–79%) | W 1 chorobie |
| PDZD7PDZ domain containing 7 | Często (30–79%) | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Często (30–79%) | W 4 chorobach |
| PEX10peroxisomal biogenesis factor 10 | Często (30–79%) | W 3 chorobach |
| PEX11Bperoxisomal biogenesis factor 11 beta | Często (30–79%) | W 3 chorobach |
| PEX12peroxisomal biogenesis factor 12 | Często (30–79%) | W 3 chorobach |
| PEX13peroxisomal biogenesis factor 13 | Często (30–79%) | W 4 chorobach |
| PEX14peroxisomal biogenesis factor 14 | Często (30–79%) | W 3 chorobach |
| PEX16peroxisomal biogenesis factor 16 | Często (30–79%) | W 5 chorobach |
| PEX19peroxisomal biogenesis factor 19 | Często (30–79%) | W 3 chorobach |
| PEX2peroxisomal biogenesis factor 2 | Często (30–79%) | W 4 chorobach |
| PEX5peroxisomal biogenesis factor 5 | Często (30–79%) | W 4 chorobach |
| PEX6peroxisomal biogenesis factor 6 | Często (30–79%) | W 3 chorobach |
| PLCG2phospholipase C gamma 2 | Często (30–79%) | W 1 chorobie |
| POLR3ARNA polymerase III subunit A | Często (30–79%) | W 2 chorobach |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Często (30–79%) | W 4 chorobach |
| POMT1protein O-mannosyltransferase 1 | Często (30–79%) | W 4 chorobach |
| PRPH2peripherin 2 | Często (30–79%) | W 1 chorobie |
| PRUNE1prune exopolyphosphatase 1 | Często (30–79%) | W 2 chorobach |
| PTENphosphatase and tensin homolog | Często (30–79%) | W 3 chorobach |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Często (30–79%) | W 2 chorobach |
| RB1RB transcriptional corepressor 1 | Często (30–79%) | W 1 chorobie |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Często (30–79%) | W 1 chorobie |
| RD3RD3 regulator of GUCY2D | Często (30–79%) | W 1 chorobie |
| RDH12retinol dehydrogenase 12 | Często (30–79%) | W 1 chorobie |
| RNF13ring finger protein 13 | Często (30–79%) | W 2 chorobach |
| RPE65retinoid isomerohydrolase RPE65 | Często (30–79%) | W 1 chorobie |
| RPGRIP1RPGR interacting protein 1 | Często (30–79%) | W 3 chorobach |
| RPGRIP1LRPGRIP1 like | Często (30–79%) | W 1 chorobie |
| RRAGCRas related GTP binding C | Często (30–79%) | W 1 chorobie |
| RSPO2R-spondin 2 | Często (30–79%) | W 1 chorobie |
| RTN2reticulon 2 | Często (30–79%) | W 1 chorobie |
| SALL2spalt like transcription factor 2 | Często (30–79%) | W 1 chorobie |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Często (30–79%) | W 1 chorobie |
| SLC16A12solute carrier family 16 member 12 | Często (30–79%) | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Często (30–79%) | W 2 chorobach |
| SMG8SMG8 nonsense mediated mRNA decay factor | Często (30–79%) | W 1 chorobie |
| SPATA7spermatogenesis associated 7 | Często (30–79%) | W 1 chorobie |
| SPOUT1SPOUT domain containing methyltransferase 1 | Często (30–79%) | W 1 chorobie |
| SPRTNSprT-like N-terminal domain | Często (30–79%) | W 1 chorobie |
| SREBF1sterol regulatory element binding transcription factor 1 | Często (30–79%) | W 2 chorobach |
| STX16syntaxin 16 | Często (30–79%) | W 1 chorobie |
| SUMF1sulfatase modifying factor 1 | Często (30–79%) | W 1 chorobie |
| TBR1T-box brain transcription factor 1 | Często (30–79%) | W 1 chorobie |
| 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 |
| TKTtransketolase | Często (30–79%) | W 1 chorobie |
| TMEM107transmembrane protein 107 | Często (30–79%) | W 1 chorobie |
| TMEM216transmembrane protein 216 | Często (30–79%) | W 1 chorobie |
| TMEM231transmembrane protein 231 | Często (30–79%) | W 1 chorobie |
| TMEM237transmembrane protein 237 | Często (30–79%) | W 1 chorobie |
| TMEM67transmembrane protein 67 | Często (30–79%) | W 1 chorobie |
| TRAPPC11trafficking protein particle complex subunit 11 | Często (30–79%) | W 3 chorobach |
| TRIM44TRIM family member 44 | Często (30–79%) | W 2 chorobach |
| TUBB4Btubulin beta 4B class IVb | Często (30–79%) | W 1 chorobie |
| TUBG1tubulin gamma 1 | Często (30–79%) | W 1 chorobie |
| TULP1TUB like protein 1 | Często (30–79%) | W 1 chorobie |
| TXNDC15thioredoxin domain containing 15 | Często (30–79%) | W 1 chorobie |
| USH1CUSH1 protein network component harmonin | Często (30–79%) | W 1 chorobie |
| USH1GUSH1 protein network component sans | Często (30–79%) | W 1 chorobie |
| USH2Ausherin | Często (30–79%) | W 1 chorobie |
| USP45ubiquitin specific peptidase 45 | Często (30–79%) | W 1 chorobie |
| VAC14VAC14 component of PIKFYVE complex | Często (30–79%) | W 1 chorobie |
| WFS1wolframin ER transmembrane glycoprotein | Często (30–79%) | W 1 chorobie |
| WHRNwhirlin | Często (30–79%) | W 1 chorobie |
| WNT3Wnt family member 3 | Często (30–79%) | W 2 chorobach |
| WT1WT1 transcription factor | Często (30–79%) | W 2 chorobach |
| XPAXPA, DNA damage recognition and repair factor | Często (30–79%) | W 1 chorobie |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Często (30–79%) | W 1 chorobie |
| YAP1Yes1 associated transcriptional regulator | Często (30–79%) | W 2 chorobach |
| ABCA12ATP binding cassette subfamily A member 12 | Czasami (5–29%) | W 2 chorobach |
| ABCD1ATP binding cassette subfamily D member 1 | Czasami (5–29%) | W 1 chorobie |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Czasami (5–29%) | W 1 chorobie |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Czasami (5–29%) | W 2 chorobach |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Czasami (5–29%) | W 1 chorobie |
| ADAMTSL4ADAMTS like 4 | Czasami (5–29%) | W 2 chorobach |
| AKT1AKT serine/threonine kinase 1 | Czasami (5–29%) | W 1 chorobie |
| AMER1APC membrane recruitment protein 1 | Czasami (5–29%) | W 1 chorobie |
| ANO10anoctamin 10 | Czasami (5–29%) | W 1 chorobie |
| APCAPC regulator of Wnt signaling pathway | Czasami (5–29%) | W 1 chorobie |
| APOA1apolipoprotein A1 | Czasami (5–29%) | W 1 chorobie |
| ARCN1archain 1 coat protein complex I subunit delta | Czasami (5–29%) | W 1 chorobie |
| ARL6ARF like GTPase 6 | Czasami (5–29%) | W 2 chorobach |
| ARVCFARVCF delta catenin family member | Czasami (5–29%) | W 1 chorobie |
| ATAD3AATPase family AAA domain containing 3A | 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 |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Czasami (5–29%) | W 2 chorobach |
| ATP8A2ATPase phospholipid transporting 8A2 | Czasami (5–29%) | W 1 chorobie |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Czasami (5–29%) | W 1 chorobie |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Czasami (5–29%) | W 1 chorobie |
| BBS1Bardet-Biedl syndrome 1 | Czasami (5–29%) | W 2 chorobach |
| BBS10Bardet-Biedl syndrome 10 | Czasami (5–29%) | W 1 chorobie |
| BBS12Bardet-Biedl syndrome 12 | Czasami (5–29%) | W 1 chorobie |
| BBS2Bardet-Biedl syndrome 2 | Czasami (5–29%) | W 1 chorobie |
| BBS4Bardet-Biedl syndrome 4 | Czasami (5–29%) | W 1 chorobie |
| BBS5Bardet-Biedl syndrome 5 | Czasami (5–29%) | W 1 chorobie |
| BBS7Bardet-Biedl syndrome 7 | Czasami (5–29%) | W 1 chorobie |
| BCAP31B cell receptor associated protein 31 | Czasami (5–29%) | W 1 chorobie |
| BRCA1BRCA1 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| BRCA2BRCA2 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| BRD4bromodomain containing 4 | Czasami (5–29%) | W 1 chorobie |
| BRF1BRF1 general transcription factor IIIB subunit | Czasami (5–29%) | W 2 chorobach |
| BRIP1BRCA1 interacting DNA helicase 1 | Czasami (5–29%) | W 1 chorobie |
| BTNL2butyrophilin like 2 | Czasami (5–29%) | W 1 chorobie |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Czasami (5–29%) | W 1 chorobie |
| C4Acomplement C4A (Chido/Rodgers blood group) | Czasami (5–29%) | W 1 chorobie |
| CA8carbonic anhydrase 8 (inactive) | 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 |
| CCDC28Bcoiled-coil domain containing 28B | Czasami (5–29%) | W 1 chorobie |
| CCR1C-C motif chemokine receptor 1 | Czasami (5–29%) | W 1 chorobie |
| CEP164centrosomal protein 164 | Czasami (5–29%) | W 1 chorobie |
| CEP19centrosomal protein 19 | Czasami (5–29%) | W 1 chorobie |
| CFAP418cilia and flagella associated protein 418 | Czasami (5–29%) | W 2 chorobach |
| CLIP2CAP-Gly domain containing linker protein 2 | Czasami (5–29%) | W 1 chorobie |
| COL18A1collagen type XVIII alpha 1 chain | Czasami (5–29%) | W 1 chorobie |
| COL25A1collagen type XXV alpha 1 chain | Czasami (5–29%) | W 1 chorobie |
| COL4A1collagen type IV alpha 1 chain | Czasami (5–29%) | W 2 chorobach |
| COMTcatechol-O-methyltransferase | Czasami (5–29%) | W 1 chorobie |
| COQ6coenzyme Q6, monooxygenase | Czasami (5–29%) | W 1 chorobie |
| COX7Bcytochrome c oxidase subunit 7B | Czasami (5–29%) | W 1 chorobie |
| CREBBPCREB binding lysine acetyltransferase | Czasami (5–29%) | W 4 chorobach |
| CTC1CST telomere replication complex component 1 | Czasami (5–29%) | W 1 chorobie |
| CTNNB1catenin beta 1 | Czasami (5–29%) | W 2 chorobach |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Czasami (5–29%) | W 2 chorobach |
| DACT1dishevelled binding antagonist of beta catenin 1 | Czasami (5–29%) | W 1 chorobie |
| DGUOKdeoxyguanosine kinase | Czasami (5–29%) | W 1 chorobie |
| DHCR77-dehydrocholesterol reductase | Czasami (5–29%) | W 2 chorobach |
| DMPKDM1 protein kinase | Czasami (5–29%) | W 2 chorobach |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Czasami (5–29%) | W 1 chorobie |
| DNMT1DNA methyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| DSG4desmoglein 4 | Czasami (5–29%) | W 1 chorobie |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Czasami (5–29%) | W 1 chorobie |
| DYNC2I1dynein 2 intermediate chain 1 | Czasami (5–29%) | W 1 chorobie |
| DYNC2I2dynein 2 intermediate chain 2 | Czasami (5–29%) | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Czasami (5–29%) | W 1 chorobie |
| EIF4Heukaryotic translation initiation factor 4H | Czasami (5–29%) | W 1 chorobie |
| ELNelastin | Czasami (5–29%) | W 1 chorobie |
| EPCAMepithelial cell adhesion molecule | Czasami (5–29%) | W 1 chorobie |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Czasami (5–29%) | W 1 chorobie |
| FAAP100FA core complex associated protein 100 | Czasami (5–29%) | W 1 chorobie |
| FAM111BFAM111 trypsin like peptidase B | Czasami (5–29%) | W 1 chorobie |
| FAM50Afamily with sequence similarity 50 member A | 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 |
| FBXO22F-box protein 22 | Czasami (5–29%) | W 1 chorobie |
| FGF3fibroblast growth factor 3 | Czasami (5–29%) | W 1 chorobie |
| FHfumarate hydratase | Czasami (5–29%) | W 1 chorobie |
| FIBPFGF1 intracellular binding protein | Czasami (5–29%) | W 1 chorobie |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Czasami (5–29%) | W 1 chorobie |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Czasami (5–29%) | W 1 chorobie |
| FLVCR1FLVCR choline and heme transporter 1 | Czasami (5–29%) | W 2 chorobach |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Czasami (5–29%) | W 1 chorobie |
| GJA5gap junction protein alpha 5 | Czasami (5–29%) | W 1 chorobie |
| GP1BBglycoprotein Ib platelet subunit beta | Czasami (5–29%) | W 1 chorobie |
| GTF2Igeneral transcription factor IIi | Czasami (5–29%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| HCCSholocytochrome c synthase | Czasami (5–29%) | W 1 chorobie |
| HDAC8histone deacetylase 8 | 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 |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Czasami (5–29%) | W 1 chorobie |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Czasami (5–29%) | W 1 chorobie |
| HTRA2HtrA serine peptidase 2 | Czasami (5–29%) | W 1 chorobie |
| HYAL2hyaluronidase 2 | Czasami (5–29%) | W 1 chorobie |
| IFNGR1interferon gamma receptor 1 | Czasami (5–29%) | W 1 chorobie |
| IFT172intraflagellar transport 172 | Czasami (5–29%) | W 1 chorobie |
| IFT27intraflagellar transport 27 | Czasami (5–29%) | W 1 chorobie |
| IFT54intraflagellar transport 54 | Czasami (5–29%) | W 1 chorobie |
| IFT74intraflagellar transport 74 | Czasami (5–29%) | W 1 chorobie |
| IFT80intraflagellar transport 80 | Czasami (5–29%) | W 1 chorobie |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Czasami (5–29%) | W 2 chorobach |
| IL10interleukin 10 | Czasami (5–29%) | W 1 chorobie |
| IL12Ainterleukin 12A | Czasami (5–29%) | W 1 chorobie |
| IL12A-AS1IL12A antisense RNA 1 | Czasami (5–29%) | W 1 chorobie |
| IL23Rinterleukin 23 receptor | Czasami (5–29%) | W 1 chorobie |
| INVSinversin | 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 |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Czasami (5–29%) | W 2 chorobach |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Czasami (5–29%) | W 1 chorobie |
| KIF11kinesin family member 11 | Czasami (5–29%) | W 2 chorobach |
| KIF21Akinesin family member 21A | Czasami (5–29%) | W 1 chorobie |
| KLRC4killer cell lectin like receptor C4 | Czasami (5–29%) | W 1 chorobie |
| KRT25keratin 25 | Czasami (5–29%) | W 1 chorobie |
| KRT71keratin 71 | Czasami (5–29%) | W 1 chorobie |
| KRT74keratin 74 | Czasami (5–29%) | W 1 chorobie |
| KRT81keratin 81 | Czasami (5–29%) | W 1 chorobie |
| KRT83keratin 83 | Czasami (5–29%) | W 1 chorobie |
| KRT86keratin 86 | Czasami (5–29%) | W 1 chorobie |
| LAMB1laminin subunit beta 1 | Czasami (5–29%) | W 1 chorobie |
| LIG3DNA ligase 3 | Czasami (5–29%) | W 1 chorobie |
| LIMK1LIM domain kinase 1 | Czasami (5–29%) | W 1 chorobie |
| LIPHlipase H | Czasami (5–29%) | W 1 chorobie |
| LMBRD2LMBR1 domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| LMNAlamin A/C | Czasami (5–29%) | W 1 chorobie |
| LPAR6lysophosphatidic acid receptor 6 | Czasami (5–29%) | W 1 chorobie |
| LRP2LDL receptor related protein 2 | 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 3 chorobach |
| LTBP2latent transforming growth factor beta binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| LUZP1leucine zipper protein 1 | Czasami (5–29%) | W 1 chorobie |
| LZTFL1leucine zipper transcription factor like 1 | Czasami (5–29%) | W 1 chorobie |
| LZTR1leucine zipper like post translational regulator 1 | Czasami (5–29%) | W 1 chorobie |
| MAD2L2mitotic arrest deficient 2 like 2 | Czasami (5–29%) | W 1 chorobie |
| MAU2MAU2 sister chromatid cohesion factor | Czasami (5–29%) | W 1 chorobie |
| MED11mediator complex subunit 11 | Czasami (5–29%) | W 1 chorobie |
| MEFVMEFV innate immunity regulator, pyrin | Czasami (5–29%) | W 1 chorobie |
| METTL27methyltransferase like 27 | Czasami (5–29%) | W 1 chorobie |
| MKKSMKKS centrosomal shuttling protein | Czasami (5–29%) | W 1 chorobie |
| MMP23Bmatrix metallopeptidase 23B | Czasami (5–29%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Czasami (5–29%) | W 1 chorobie |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Czasami (5–29%) | W 1 chorobie |
| MYSM1Myb like, SWIRM and MPN domains 1 | Czasami (5–29%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NAXDNAD(P)HX dehydratase | Czasami (5–29%) | W 2 chorobach |
| NCF1neutrophil cytosolic factor 1 | Czasami (5–29%) | W 1 chorobie |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Czasami (5–29%) | W 1 chorobie |
| NEK9NIMA related kinase 9 | Czasami (5–29%) | W 1 chorobie |
| NHP2NHP2 ribonucleoprotein | Czasami (5–29%) | W 1 chorobie |
| NIPBLNIPBL cohesin loading factor | Czasami (5–29%) | W 1 chorobie |
| NOTCH2notch receptor 2 | Czasami (5–29%) | W 1 chorobie |
| NPHP1nephrocystin 1 | Czasami (5–29%) | W 2 chorobach |
| NPHP3nephrocystin 3 | Czasami (5–29%) | W 1 chorobie |
| NPHP4nephrocystin 4 | Czasami (5–29%) | W 1 chorobie |
| NPM1nucleophosmin 1 | Czasami (5–29%) | W 1 chorobie |
| NRCAMneuronal cell adhesion molecule | Czasami (5–29%) | W 1 chorobie |
| OCLNoccludin | Czasami (5–29%) | W 1 chorobie |
| PAK2p21 (RAC1) activated kinase 2 | Czasami (5–29%) | W 1 chorobie |
| PALB2partner and localizer of BRCA2 | Czasami (5–29%) | W 1 chorobie |
| PARNpoly(A)-specific ribonuclease | Czasami (5–29%) | W 1 chorobie |
| PAX2paired box 2 | Czasami (5–29%) | W 1 chorobie |
| PDPNpodoplanin | Czasami (5–29%) | W 1 chorobie |
| PHF6PHD finger protein 6 | Czasami (5–29%) | W 1 chorobie |
| PHOX2Apaired like homeobox 2A | Czasami (5–29%) | W 1 chorobie |
| PLK4polo like kinase 4 | Czasami (5–29%) | W 1 chorobie |
| PMM2phosphomannomutase 2 | Czasami (5–29%) | W 1 chorobie |
| PNPLA6patatin like domain 6, lysophospholipase | Czasami (5–29%) | W 1 chorobie |
| POLGDNA polymerase gamma, catalytic subunit | Czasami (5–29%) | W 4 chorobach |
| POLG2DNA polymerase gamma 2, accessory subunit | Czasami (5–29%) | W 1 chorobie |
| POLR1ARNA polymerase I subunit A | Czasami (5–29%) | W 1 chorobie |
| POLR1BRNA polymerase I subunit B | Czasami (5–29%) | W 1 chorobie |
| POLR1CRNA polymerase I and III subunit C | Czasami (5–29%) | W 1 chorobie |
| POLR1DRNA polymerase I and III subunit D | Czasami (5–29%) | W 1 chorobie |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Czasami (5–29%) | W 1 chorobie |
| POMKprotein O-mannose kinase | Czasami (5–29%) | W 3 chorobach |
| PORCNporcupine O-acyltransferase | Czasami (5–29%) | W 1 chorobie |
| PRDM16PR/SET domain 16 | Czasami (5–29%) | W 1 chorobie |
| PRIM1DNA primase subunit 1 | Czasami (5–29%) | W 1 chorobie |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Czasami (5–29%) | W 1 chorobie |
| PRKCZprotein kinase C zeta | Czasami (5–29%) | W 1 chorobie |
| PRR12proline rich 12 | Czasami (5–29%) | W 1 chorobie |
| PSAT1phosphoserine aminotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| PTCH2patched 2 | Czasami (5–29%) | W 1 chorobie |
| PYCR1pyrroline-5-carboxylate reductase 1 | Czasami (5–29%) | W 1 chorobie |
| RAD21RAD21 cohesin complex component | Czasami (5–29%) | W 1 chorobie |
| RAD51RAD51 recombinase | Czasami (5–29%) | W 1 chorobie |
| RAD51CRAD51 paralog C | Czasami (5–29%) | W 1 chorobie |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Czasami (5–29%) | W 1 chorobie |
| RAP1BRAP1B, member of RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| REREarginine-glutamic acid dipeptide repeats | Czasami (5–29%) | W 1 chorobie |
| RFC2replication factor C subunit 2 | Czasami (5–29%) | W 1 chorobie |
| RFWD3ring finger and WD repeat domain 3 | Czasami (5–29%) | W 1 chorobie |
| RHOAras homolog family member A | Czasami (5–29%) | W 1 chorobie |
| RP9RP9 pre-mRNA splicing factor | 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 |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Czasami (5–29%) | W 2 chorobach |
| RRP12ribosomal RNA processing 12 homolog | Czasami (5–29%) | W 1 chorobie |
| RTEL1regulator of telomere elongation helicase 1 | Czasami (5–29%) | W 1 chorobie |
| RXYLT1ribitol xylosyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| SALL1spalt like transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| SALL4spalt like transcription factor 4 | Czasami (5–29%) | W 2 chorobach |
| SBF2SET binding factor 2 | Czasami (5–29%) | W 1 chorobie |
| SCAPERS-phase cyclin A associated protein in the ER | Czasami (5–29%) | W 1 chorobie |
| SCLT1sodium channel and clathrin linker 1 | Czasami (5–29%) | W 1 chorobie |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Czasami (5–29%) | W 2 chorobach |
| SEC24CSEC24 homolog C, COPII component | Czasami (5–29%) | W 1 chorobie |
| SETD2SET domain containing 2, histone lysine methyltransferase | Czasami (5–29%) | W 1 chorobie |
| SHROOM4shroom family member 4 | Czasami (5–29%) | W 1 chorobie |
| SIN3ASIN3 transcription regulator family member A | Czasami (5–29%) | W 1 chorobie |
| SIX6SIX homeobox 6 | Czasami (5–29%) | W 2 chorobach |
| SKISKI proto-oncogene | Czasami (5–29%) | W 1 chorobie |
| SLF2SMC5/6 complex localization factor 2 | Czasami (5–29%) | W 1 chorobie |
| SLX4SLX4 structure-specific endonuclease subunit | Czasami (5–29%) | W 1 chorobie |
| SMAD3SMAD family member 3 | Czasami (5–29%) | W 1 chorobie |
| SMAD4SMAD family member 4 | Czasami (5–29%) | W 2 chorobach |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Czasami (5–29%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Czasami (5–29%) | W 1 chorobie |
| SMC3structural maintenance of chromosomes 3 | Czasami (5–29%) | W 1 chorobie |
| SOX2SRY-box transcription factor 2 | Czasami (5–29%) | W 1 chorobie |
| SPENspen family transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| STAT4signal transducer and activator of transcription 4 | Czasami (5–29%) | W 2 chorobach |
| STX1Asyntaxin 1A | Czasami (5–29%) | W 1 chorobie |
| SUFUSUFU negative regulator of hedgehog signaling | Czasami (5–29%) | W 1 chorobie |
| TBCKTBC1 domain containing kinase | Czasami (5–29%) | W 1 chorobie |
| TBL2transducin beta like 2 | Czasami (5–29%) | W 1 chorobie |
| TBX1T-box transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| TCOF1treacle ribosome biogenesis factor 1 | Czasami (5–29%) | W 1 chorobie |
| TERCtelomerase RNA component | Czasami (5–29%) | W 1 chorobie |
| TERTtelomerase reverse transcriptase | Czasami (5–29%) | W 1 chorobie |
| TFAP2Atranscription factor AP-2 alpha | Czasami (5–29%) | W 2 chorobach |
| TINF2TERF1 interacting nuclear factor 2 | Czasami (5–29%) | W 1 chorobie |
| TLR4toll like receptor 4 | Czasami (5–29%) | W 1 chorobie |
| TMEM270transmembrane protein 270 | Czasami (5–29%) | W 1 chorobie |
| TMEM70transmembrane protein 70 | Czasami (5–29%) | W 1 chorobie |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Czasami (5–29%) | W 1 chorobie |
| TONSLtonsoku like, DNA repair protein | Czasami (5–29%) | W 1 chorobie |
| TRIM32tripartite motif containing 32 | Czasami (5–29%) | W 1 chorobie |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Czasami (5–29%) | W 1 chorobie |
| TSHZ3teashirt zinc finger homeobox 3 | Czasami (5–29%) | W 1 chorobie |
| TSPAN12tetraspanin 12 | Czasami (5–29%) | W 1 chorobie |
| TTC8tetratricopeptide repeat domain 8 | Czasami (5–29%) | W 1 chorobie |
| TUBA1Atubulin alpha 1a | Czasami (5–29%) | W 1 chorobie |
| TUBB2Btubulin beta 2B class IIb | Czasami (5–29%) | W 2 chorobach |
| TUBB3tubulin beta 3 class III | Czasami (5–29%) | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Czasami (5–29%) | W 4 chorobach |
| TYMSthymidylate synthetase | Czasami (5–29%) | W 1 chorobie |
| UBAC2UBA domain containing 2 | 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 |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Czasami (5–29%) | W 1 chorobie |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Czasami (5–29%) | W 1 chorobie |
| USP9Xubiquitin specific peptidase 9 X-linked | Czasami (5–29%) | W 2 chorobach |
| VCPvalosin containing protein | Czasami (5–29%) | W 1 chorobie |
| VLDLRvery low density lipoprotein receptor | Czasami (5–29%) | W 2 chorobach |
| VPS37DVPS37D subunit of ESCRT-I | Czasami (5–29%) | W 1 chorobie |
| WDPCPWD repeat containing planar cell polarity effector | Czasami (5–29%) | W 1 chorobie |
| WDR35WD repeat domain 35 | Czasami (5–29%) | W 1 chorobie |
| WDR81WD repeat domain 81 | Czasami (5–29%) | W 1 chorobie |
| WRAP53WD repeat containing antisense to TP53 | Czasami (5–29%) | W 1 chorobie |
| XRCC2X-ray repair cross complementing 2 | Czasami (5–29%) | W 1 chorobie |
| XRCC4X-ray repair cross complementing 4 | Czasami (5–29%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Czasami (5–29%) | W 3 chorobach |
| ZFXzinc finger protein X-linked | Czasami (5–29%) | W 1 chorobie |
| ZNF408zinc finger protein 408 | Czasami (5–29%) | W 2 chorobach |
| ALDOBaldolase, fructose-bisphosphate B | Rzadko (1–4%) | W 1 chorobie |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Rzadko (1–4%) | W 1 chorobie |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Rzadko (1–4%) | W 1 chorobie |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Rzadko (1–4%) | W 1 chorobie |
| AMMECR1AMMECR nuclear protein 1 | Rzadko (1–4%) | W 1 chorobie |
| ANKRD55ankyrin repeat domain 55 | Rzadko (1–4%) | W 1 chorobie |
| APC2APC regulator of Wnt signaling pathway 2 | Rzadko (1–4%) | W 1 chorobie |
| ARSLarylsulfatase L | Rzadko (1–4%) | W 2 chorobach |
| ASPRV1aspartic peptidase retroviral like 1 | Rzadko (1–4%) | W 1 chorobie |
| CD247CD247 molecule | Rzadko (1–4%) | W 1 chorobie |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Rzadko (1–4%) | W 1 chorobie |
| DHX38DEAH-box helicase 38 | Rzadko (1–4%) | W 1 chorobie |
| DNM1Ldynamin 1L | Rzadko (1–4%) | W 1 chorobie |
| EP300EP300 lysine acetyltransferase | Rzadko (1–4%) | W 2 chorobach |
| IL2RAinterleukin 2 receptor subunit alpha | Rzadko (1–4%) | W 1 chorobie |
| IL2RBinterleukin 2 receptor subunit beta | Rzadko (1–4%) | W 1 chorobie |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| LIPNlipase family member N | Rzadko (1–4%) | W 1 chorobie |
| MORC2MORC family CW-type zinc finger 2 | Rzadko (1–4%) | W 1 chorobie |
| NIPAL4NIPA like domain containing 4 | Rzadko (1–4%) | W 1 chorobie |
| NSD1nuclear receptor binding SET domain protein 1 | Rzadko (1–4%) | W 1 chorobie |
| OPA1OPA1 mitochondrial dynamin like GTPase | Rzadko (1–4%) | W 1 chorobie |
| PPIBpeptidylprolyl isomerase B | Rzadko (1–4%) | W 1 chorobie |
| PTBP1polypyrimidine tract binding protein 1 | Rzadko (1–4%) | W 1 chorobie |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Rzadko (1–4%) | W 1 chorobie |
| RECQL4RecQ like helicase 4 | Rzadko (1–4%) | W 1 chorobie |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Rzadko (1–4%) | W 1 chorobie |
| SLC25A13solute carrier family 25 member 13 | Rzadko (1–4%) | W 1 chorobie |
| SPRED1sprouty related EVH1 domain containing 1 | Rzadko (1–4%) | W 1 chorobie |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rzadko (1–4%) | W 1 chorobie |
| SULT2B1sulfotransferase family 2B member 1 | Rzadko (1–4%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Rzadko (1–4%) | W 2 chorobach |
| TGM1transglutaminase 1 | Rzadko (1–4%) | W 1 chorobie |
| AGAaspartylglucosaminidase | Nie odnotowano | W 1 chorobie |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Nie odnotowano | W 1 chorobie |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Nie odnotowano | W 1 chorobie |
| BLTP1bridge-like lipid transfer protein family member 1 | Nie odnotowano | W 1 chorobie |
| CENPFcentromere protein F | Nie odnotowano | W 1 chorobie |
| CHRDL1chordin like 1 | Nie odnotowano | W 1 chorobie |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Nie odnotowano | W 1 chorobie |
| COL11A2collagen type XI alpha 2 chain | Nie odnotowano | W 1 chorobie |
| COL4A4collagen type IV alpha 4 chain | Nie odnotowano | W 1 chorobie |
| COL7A1collagen type VII alpha 1 chain | Nie odnotowano | W 1 chorobie |
| CPT2carnitine palmitoyltransferase 2 | Nie odnotowano | W 1 chorobie |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Nie odnotowano | W 1 chorobie |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Nie odnotowano | W 1 chorobie |
| FGF5fibroblast growth factor 5 | Nie odnotowano | W 1 chorobie |
| FLNBfilamin B | Nie odnotowano | W 1 chorobie |
| GFERgrowth factor, augmenter of liver regeneration | Nie odnotowano | W 1 chorobie |
| GJB6gap junction protein beta 6 | Nie odnotowano | W 1 chorobie |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Nie odnotowano | W 1 chorobie |
| JAG1jagged canonical Notch ligand 1 | Nie odnotowano | W 1 chorobie |
| LAS1LLAS1 like ribosome biogenesis factor | Nie odnotowano | W 1 chorobie |
| LMX1BLIM homeobox transcription factor 1 beta | Nie odnotowano | W 1 chorobie |
| LOXL1lysyl oxidase like 1 | Nie odnotowano | W 1 chorobie |
| MAB21L2mab-21 like 2 | Nie odnotowano | W 1 chorobie |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Nie odnotowano | W 1 chorobie |
| PAHphenylalanine hydroxylase | Nie odnotowano | W 1 chorobie |
| PHGDHphosphoglycerate dehydrogenase | Nie odnotowano | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nie odnotowano | W 1 chorobie |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Nie odnotowano | W 1 chorobie |
| PITX3paired like homeodomain 3 | Nie odnotowano | W 1 chorobie |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Nie odnotowano | W 1 chorobie |
| PQBP1polyglutamine binding protein 1 | Nie odnotowano | W 1 chorobie |
| PTHparathyroid hormone | Nie odnotowano | W 1 chorobie |
| RP2RP2 activator of ARL3 GTPase | Nie odnotowano | W 1 chorobie |
| SLC40A1solute carrier family 40 member 1 | Nie odnotowano | W 1 chorobie |
| TDRD7tudor domain containing 7 | Nie odnotowano | W 1 chorobie |
| TGFBItransforming growth factor beta induced | Nie odnotowano | W 1 chorobie |
| TUBGCP6tubulin gamma complex component 6 | Nie odnotowano | W 1 chorobie |
| VCANversican | Nie odnotowano | W 1 chorobie |
| VSX2visual system homeobox 2 | Nie odnotowano | W 1 chorobie |
| WDR73WD repeat domain 73 | Nie odnotowano | W 1 chorobie |
| ZNF335zinc finger protein 335 | 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.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni