Požymis
Noninflammatory retina disease
Klinikinis pavadinimas: Retinopathy
Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
Santrauka
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Noninflammatory retina disease, and the rest of your genome, with one test.
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Įsigyti savo Genome Test142 genų susiję su Noninflammatory retina disease
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Noninflammatory retina disease. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Visada | 3 ligose |
| COX15cytochrome c oxidase assembly factor COX15 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Visada | 1 ligoje |
| NOTCH3notch receptor 3 | Visada | 1 ligoje |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Visada | 1 ligoje |
| ZMYM3zinc finger MYM-type containing 3 | Visada | 1 ligoje |
| ABCC6ATP binding cassette subfamily C member 6 | Labai dažnai (80–99%) | 1 ligoje |
| CDH3cadherin 3 | Labai dažnai (80–99%) | 1 ligoje |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC5ERCC excision repair 5, endonuclease | Labai dažnai (80–99%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Labai dažnai (80–99%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| MCOLN1mucolipin TRP cation channel 1 | Labai dažnai (80–99%) | 1 ligoje |
| MYO5Amyosin VA | Labai dažnai (80–99%) | 1 ligoje |
| NEU1neuraminidase 1 | Labai dažnai (80–99%) | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Labai dažnai (80–99%) | 1 ligoje |
| PHYHphytanoyl-CoA 2-hydroxylase | Labai dažnai (80–99%) | 1 ligoje |
| PTCH1patched 1 | Labai dažnai (80–99%) | 1 ligoje |
| SAR1Bsecretion associated Ras related GTPase 1B | Labai dažnai (80–99%) | 1 ligoje |
| TXN2thioredoxin 2 | Labai dažnai (80–99%) | 2 ligose |
| B9D1B9 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Dažnai (30–79%) | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| GCKglucokinase | Dažnai (30–79%) | 2 ligose |
| HBBhemoglobin subunit beta | Dažnai (30–79%) | 3 ligose |
| IDUAalpha-L-iduronidase | Dažnai (30–79%) | 1 ligoje |
| INSinsulin | Dažnai (30–79%) | 2 ligose |
| ITGAVintegrin subunit alpha V | Dažnai (30–79%) | 1 ligoje |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Dažnai (30–79%) | 2 ligose |
| MIA3MIA SH3 domain ER export factor 3 | Dažnai (30–79%) | 1 ligoje |
| PDX1pancreatic and duodenal homeobox 1 | Dažnai (30–79%) | 2 ligose |
| PROS1protein S | Dažnai (30–79%) | 1 ligoje |
| STAT3signal transducer and activator of transcription 3 | Dažnai (30–79%) | 1 ligoje |
| TMEM231transmembrane protein 231 | Dažnai (30–79%) | 1 ligoje |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Kartais (5–29%) | 1 ligoje |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Kartais (5–29%) | 1 ligoje |
Rodyti dar 102 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Kartais (5–29%) | 2 ligose |
| APPL1adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | Kartais (5–29%) | 1 ligoje |
| ATG7autophagy related 7 | Kartais (5–29%) | 1 ligoje |
| BAP1BRCA1 associated deubiquitinase 1 | Kartais (5–29%) | 1 ligoje |
| BCL11ABCL11 transcription factor A | Kartais (5–29%) | 1 ligoje |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Kartais (5–29%) | 2 ligose |
| C4Acomplement C4A (Chido/Rodgers blood group) | Kartais (5–29%) | 2 ligose |
| CCR1C-C motif chemokine receptor 1 | Kartais (5–29%) | 1 ligoje |
| CDK4cyclin dependent kinase 4 | Kartais (5–29%) | 1 ligoje |
| CDKN2Acyclin dependent kinase inhibitor 2A | Kartais (5–29%) | 1 ligoje |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Kartais (5–29%) | 1 ligoje |
| CELcarboxyl ester lipase | Kartais (5–29%) | 1 ligoje |
| CPLX1complexin 1 | Kartais (5–29%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Kartais (5–29%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Kartais (5–29%) | 1 ligoje |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Kartais (5–29%) | 2 ligose |
| CYP11B1cytochrome P450 family 11 subfamily B member 1 | Kartais (5–29%) | 1 ligoje |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Kartais (5–29%) | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Kartais (5–29%) | 2 ligose |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Kartais (5–29%) | 1 ligoje |
| FASFas cell surface death receptor | Kartais (5–29%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Kartais (5–29%) | 1 ligoje |
| HBG1hemoglobin subunit gamma 1 | Kartais (5–29%) | 1 ligoje |
| HBG2hemoglobin subunit gamma 2 | Kartais (5–29%) | 1 ligoje |
| HLA-Bmajor histocompatibility complex, class I, B | Kartais (5–29%) | 2 ligose |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Kartais (5–29%) | 1 ligoje |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Kartais (5–29%) | 1 ligoje |
| HNF1AHNF1 homeobox A | Kartais (5–29%) | 1 ligoje |
| HNF4Ahepatocyte nuclear factor 4 alpha | Kartais (5–29%) | 1 ligoje |
| IFNGR1interferon gamma receptor 1 | Kartais (5–29%) | 1 ligoje |
| IL10interleukin 10 | Kartais (5–29%) | 2 ligose |
| IL12Ainterleukin 12A | Kartais (5–29%) | 1 ligoje |
| IL12A-AS1IL12A antisense RNA 1 | Kartais (5–29%) | 1 ligoje |
| IL12Binterleukin 12B | Kartais (5–29%) | 1 ligoje |
| IL23Rinterleukin 23 receptor | Kartais (5–29%) | 1 ligoje |
| INSRinsulin receptor | Kartais (5–29%) | 1 ligoje |
| KIF11kinesin family member 11 | Kartais (5–29%) | 1 ligoje |
| KLF1KLF transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| KLF11KLF transcription factor 11 | Kartais (5–29%) | 1 ligoje |
| KLRC4killer cell lectin like receptor C4 | Kartais (5–29%) | 1 ligoje |
| LAMP2lysosome associated membrane protein 2 | Kartais (5–29%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Kartais (5–29%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Kartais (5–29%) | 1 ligoje |
| MC1Rmelanocortin 1 receptor | Kartais (5–29%) | 1 ligoje |
| MEFVMEFV innate immunity regulator, pyrin | Kartais (5–29%) | 1 ligoje |
| MGMTO-6-methylguanine-DNA methyltransferase | Kartais (5–29%) | 1 ligoje |
| MITFmelanocyte inducing transcription factor | Kartais (5–29%) | 1 ligoje |
| MLXMAX dimerization protein MLX | Kartais (5–29%) | 1 ligoje |
| NELFAnegative elongation factor complex member A | Kartais (5–29%) | 1 ligoje |
| NEUROD1neuronal differentiation 1 | Kartais (5–29%) | 1 ligoje |
| NOD2nucleotide binding oligomerization domain containing 2 | Kartais (5–29%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Kartais (5–29%) | 1 ligoje |
| PAX4paired box 4 | Kartais (5–29%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Kartais (5–29%) | 1 ligoje |
| PLK4polo like kinase 4 | Kartais (5–29%) | 1 ligoje |
| POT1protection of telomeres 1 | Kartais (5–29%) | 1 ligoje |
| PRTN3proteinase 3 | Kartais (5–29%) | 1 ligoje |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Kartais (5–29%) | 2 ligose |
| STAT4signal transducer and activator of transcription 4 | Kartais (5–29%) | 2 ligose |
| TERF2IPTERF2 interacting protein | Kartais (5–29%) | 1 ligoje |
| TERTtelomerase reverse transcriptase | Kartais (5–29%) | 1 ligoje |
| TLR4toll like receptor 4 | Kartais (5–29%) | 1 ligoje |
| TNFRSF11BTNF receptor superfamily member 11b | Kartais (5–29%) | 1 ligoje |
| TUBBtubulin beta class I | Kartais (5–29%) | 1 ligoje |
| UBAC2UBA domain containing 2 | Kartais (5–29%) | 1 ligoje |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Retai (1–4 %) | 1 ligoje |
| BLMBLM RecQ like helicase | Retai (1–4 %) | 1 ligoje |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Retai (1–4 %) | 1 ligoje |
| CR2complement C3d receptor 2 | Retai (1–4 %) | 1 ligoje |
| DNASE1deoxyribonuclease 1 | Retai (1–4 %) | 1 ligoje |
| ETS1ETS proto-oncogene 1, transcription factor | Retai (1–4 %) | 1 ligoje |
| FCGR2BFc gamma receptor IIb | Retai (1–4 %) | 1 ligoje |
| FCGR3BFc gamma receptor IIIb | Retai (1–4 %) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Retai (1–4 %) | 1 ligoje |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Retai (1–4 %) | 1 ligoje |
| IRAK1interleukin 1 receptor associated kinase 1 | Retai (1–4 %) | 1 ligoje |
| IRF5interferon regulatory factor 5 | Retai (1–4 %) | 1 ligoje |
| ITGAMintegrin subunit alpha M | Retai (1–4 %) | 1 ligoje |
| JAZF1JAZF zinc finger 1 | Retai (1–4 %) | 1 ligoje |
| KIAA0319LKIAA0319 like | Retai (1–4 %) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Retai (1–4 %) | 1 ligoje |
| PANK2pantothenate kinase 2 | Retai (1–4 %) | 1 ligoje |
| PDCD1programmed cell death 1 | Retai (1–4 %) | 1 ligoje |
| PRUNE1prune exopolyphosphatase 1 | Retai (1–4 %) | 1 ligoje |
| PXKPX domain containing serine/threonine kinase like | Retai (1–4 %) | 1 ligoje |
| SPP1secreted phosphoprotein 1 | Retai (1–4 %) | 1 ligoje |
| TLR7toll like receptor 7 | Retai (1–4 %) | 1 ligoje |
| TNFAIP3TNF alpha induced protein 3 | Retai (1–4 %) | 1 ligoje |
| TNFSF4TNF superfamily member 4 | Retai (1–4 %) | 1 ligoje |
| TNIP1TNFAIP3 interacting protein 1 | Retai (1–4 %) | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Retai (1–4 %) | 1 ligoje |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Retai (1–4 %) | 1 ligoje |
| AGXTalanine--glyoxylate aminotransferase | Neužfiksuota | 1 ligoje |
| C1QTNF5C1q and TNF related 5 | Neužfiksuota | 1 ligoje |
| CTNScystinosin, lysosomal cystine transporter | Neužfiksuota | 2 ligose |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Neužfiksuota | 1 ligoje |
| MFSD8major facilitator superfamily domain containing 8 | Neužfiksuota | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Neužfiksuota | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Neužfiksuota | 1 ligoje |
| TMEM107transmembrane protein 107 | Neužfiksuota | 2 ligose |
| TRIM32tripartite motif containing 32 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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