Piirre
Noninflammatory retina disease
Kliininen nimi: 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.
Yhteenveto
- Elimistön järjestelmä
- Abnormality of the eye
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Noninflammatory retina disease, and the rest of your genome, with one test.
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Tilaa Genome Test142 geeniä, jotka liittyvät piirteeseen Noninflammatory retina disease
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Noninflammatory retina disease esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Aina | 3 sairaudessa |
| COX15cytochrome c oxidase assembly factor COX15 | Aina | 1 sairaudessa |
| FDXRferredoxin reductase | Aina | 1 sairaudessa |
| GTF3C3general transcription factor IIIC subunit 3 | Aina | 1 sairaudessa |
| NOTCH3notch receptor 3 | Aina | 1 sairaudessa |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Aina | 1 sairaudessa |
| ZMYM3zinc finger MYM-type containing 3 | Aina | 1 sairaudessa |
| ABCC6ATP binding cassette subfamily C member 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| CDH3cadherin 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC5ERCC excision repair 5, endonuclease | Hyvin usein (80–99%) | 1 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| MCOLN1mucolipin TRP cation channel 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| MYO5Amyosin VA | Hyvin usein (80–99%) | 1 sairaudessa |
| NEU1neuraminidase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX7peroxisomal biogenesis factor 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| PHYHphytanoyl-CoA 2-hydroxylase | Hyvin usein (80–99%) | 1 sairaudessa |
| PTCH1patched 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SAR1Bsecretion associated Ras related GTPase 1B | Hyvin usein (80–99%) | 1 sairaudessa |
| TXN2thioredoxin 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| B9D1B9 domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| BMP4bone morphogenetic protein 4 | Usein (30–79%) | 1 sairaudessa |
| COL11A1collagen type XI alpha 1 chain | Usein (30–79%) | 1 sairaudessa |
| GCKglucokinase | Usein (30–79%) | 2 sairaudessa |
| HBBhemoglobin subunit beta | Usein (30–79%) | 3 sairaudessa |
| IDUAalpha-L-iduronidase | Usein (30–79%) | 1 sairaudessa |
| INSinsulin | Usein (30–79%) | 2 sairaudessa |
| ITGAVintegrin subunit alpha V | Usein (30–79%) | 1 sairaudessa |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Usein (30–79%) | 2 sairaudessa |
| MIA3MIA SH3 domain ER export factor 3 | Usein (30–79%) | 1 sairaudessa |
| PDX1pancreatic and duodenal homeobox 1 | Usein (30–79%) | 2 sairaudessa |
| PROS1protein S | Usein (30–79%) | 1 sairaudessa |
| STAT3signal transducer and activator of transcription 3 | Usein (30–79%) | 1 sairaudessa |
| TMEM231transmembrane protein 231 | Usein (30–79%) | 1 sairaudessa |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Joskus (5–29%) | 1 sairaudessa |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Joskus (5–29%) | 1 sairaudessa |
Näytä 102 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Joskus (5–29%) | 2 sairaudessa |
| APPL1adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | Joskus (5–29%) | 1 sairaudessa |
| ATG7autophagy related 7 | Joskus (5–29%) | 1 sairaudessa |
| BAP1BRCA1 associated deubiquitinase 1 | Joskus (5–29%) | 1 sairaudessa |
| BCL11ABCL11 transcription factor A | Joskus (5–29%) | 1 sairaudessa |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Joskus (5–29%) | 2 sairaudessa |
| C4Acomplement C4A (Chido/Rodgers blood group) | Joskus (5–29%) | 2 sairaudessa |
| CCR1C-C motif chemokine receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| CDK4cyclin dependent kinase 4 | Joskus (5–29%) | 1 sairaudessa |
| CDKN2Acyclin dependent kinase inhibitor 2A | Joskus (5–29%) | 1 sairaudessa |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Joskus (5–29%) | 1 sairaudessa |
| CELcarboxyl ester lipase | Joskus (5–29%) | 1 sairaudessa |
| CPLX1complexin 1 | Joskus (5–29%) | 1 sairaudessa |
| CREBBPCREB binding lysine acetyltransferase | Joskus (5–29%) | 1 sairaudessa |
| CSPP1centrosome and spindle pole associated protein 1 | Joskus (5–29%) | 1 sairaudessa |
| CTBP1C-terminal binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Joskus (5–29%) | 2 sairaudessa |
| CYP11B1cytochrome P450 family 11 subfamily B member 1 | Joskus (5–29%) | 1 sairaudessa |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Joskus (5–29%) | 1 sairaudessa |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Joskus (5–29%) | 2 sairaudessa |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Joskus (5–29%) | 1 sairaudessa |
| FASFas cell surface death receptor | Joskus (5–29%) | 1 sairaudessa |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| HBG1hemoglobin subunit gamma 1 | Joskus (5–29%) | 1 sairaudessa |
| HBG2hemoglobin subunit gamma 2 | Joskus (5–29%) | 1 sairaudessa |
| HLA-Bmajor histocompatibility complex, class I, B | Joskus (5–29%) | 2 sairaudessa |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Joskus (5–29%) | 1 sairaudessa |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Joskus (5–29%) | 1 sairaudessa |
| HNF1AHNF1 homeobox A | Joskus (5–29%) | 1 sairaudessa |
| HNF4Ahepatocyte nuclear factor 4 alpha | Joskus (5–29%) | 1 sairaudessa |
| IFNGR1interferon gamma receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| IL10interleukin 10 | Joskus (5–29%) | 2 sairaudessa |
| IL12Ainterleukin 12A | Joskus (5–29%) | 1 sairaudessa |
| IL12A-AS1IL12A antisense RNA 1 | Joskus (5–29%) | 1 sairaudessa |
| IL12Binterleukin 12B | Joskus (5–29%) | 1 sairaudessa |
| IL23Rinterleukin 23 receptor | Joskus (5–29%) | 1 sairaudessa |
| INSRinsulin receptor | Joskus (5–29%) | 1 sairaudessa |
| KIF11kinesin family member 11 | Joskus (5–29%) | 1 sairaudessa |
| KLF1KLF transcription factor 1 | Joskus (5–29%) | 1 sairaudessa |
| KLF11KLF transcription factor 11 | Joskus (5–29%) | 1 sairaudessa |
| KLRC4killer cell lectin like receptor C4 | Joskus (5–29%) | 1 sairaudessa |
| LAMP2lysosome associated membrane protein 2 | Joskus (5–29%) | 1 sairaudessa |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Joskus (5–29%) | 1 sairaudessa |
| MAPRE2microtubule associated protein RP/EB family member 2 | Joskus (5–29%) | 1 sairaudessa |
| MC1Rmelanocortin 1 receptor | Joskus (5–29%) | 1 sairaudessa |
| MEFVMEFV innate immunity regulator, pyrin | Joskus (5–29%) | 1 sairaudessa |
| MGMTO-6-methylguanine-DNA methyltransferase | Joskus (5–29%) | 1 sairaudessa |
| MITFmelanocyte inducing transcription factor | Joskus (5–29%) | 1 sairaudessa |
| MLXMAX dimerization protein MLX | Joskus (5–29%) | 1 sairaudessa |
| NELFAnegative elongation factor complex member A | Joskus (5–29%) | 1 sairaudessa |
| NEUROD1neuronal differentiation 1 | Joskus (5–29%) | 1 sairaudessa |
| NOD2nucleotide binding oligomerization domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| NSD2nuclear receptor binding SET domain protein 2 | Joskus (5–29%) | 1 sairaudessa |
| PAX4paired box 4 | Joskus (5–29%) | 1 sairaudessa |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Joskus (5–29%) | 1 sairaudessa |
| PLK4polo like kinase 4 | Joskus (5–29%) | 1 sairaudessa |
| POT1protection of telomeres 1 | Joskus (5–29%) | 1 sairaudessa |
| PRTN3proteinase 3 | Joskus (5–29%) | 1 sairaudessa |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Joskus (5–29%) | 2 sairaudessa |
| STAT4signal transducer and activator of transcription 4 | Joskus (5–29%) | 2 sairaudessa |
| TERF2IPTERF2 interacting protein | Joskus (5–29%) | 1 sairaudessa |
| TERTtelomerase reverse transcriptase | Joskus (5–29%) | 1 sairaudessa |
| TLR4toll like receptor 4 | Joskus (5–29%) | 1 sairaudessa |
| TNFRSF11BTNF receptor superfamily member 11b | Joskus (5–29%) | 1 sairaudessa |
| TUBBtubulin beta class I | Joskus (5–29%) | 1 sairaudessa |
| UBAC2UBA domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| BLMBLM RecQ like helicase | Harvinainen (1–4 %) | 1 sairaudessa |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Harvinainen (1–4 %) | 1 sairaudessa |
| CR2complement C3d receptor 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| DNASE1deoxyribonuclease 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ETS1ETS proto-oncogene 1, transcription factor | Harvinainen (1–4 %) | 1 sairaudessa |
| FCGR2BFc gamma receptor IIb | Harvinainen (1–4 %) | 1 sairaudessa |
| FCGR3BFc gamma receptor IIIb | Harvinainen (1–4 %) | 1 sairaudessa |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Harvinainen (1–4 %) | 1 sairaudessa |
| IRAK1interleukin 1 receptor associated kinase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| IRF5interferon regulatory factor 5 | Harvinainen (1–4 %) | 1 sairaudessa |
| ITGAMintegrin subunit alpha M | Harvinainen (1–4 %) | 1 sairaudessa |
| JAZF1JAZF zinc finger 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| KIAA0319LKIAA0319 like | Harvinainen (1–4 %) | 1 sairaudessa |
| MECP2methyl-CpG binding protein 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| PANK2pantothenate kinase 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| PDCD1programmed cell death 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| PRUNE1prune exopolyphosphatase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| PXKPX domain containing serine/threonine kinase like | Harvinainen (1–4 %) | 1 sairaudessa |
| SPP1secreted phosphoprotein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| TLR7toll like receptor 7 | Harvinainen (1–4 %) | 1 sairaudessa |
| TNFAIP3TNF alpha induced protein 3 | Harvinainen (1–4 %) | 1 sairaudessa |
| TNFSF4TNF superfamily member 4 | Harvinainen (1–4 %) | 1 sairaudessa |
| TNIP1TNFAIP3 interacting protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| TREX1three prime repair exonuclease 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Harvinainen (1–4 %) | 1 sairaudessa |
| AGXTalanine--glyoxylate aminotransferase | Ei kirjattu | 1 sairaudessa |
| C1QTNF5C1q and TNF related 5 | Ei kirjattu | 1 sairaudessa |
| CTNScystinosin, lysosomal cystine transporter | Ei kirjattu | 2 sairaudessa |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ei kirjattu | 1 sairaudessa |
| MFSD8major facilitator superfamily domain containing 8 | Ei kirjattu | 1 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ei kirjattu | 1 sairaudessa |
| MTTPmicrosomal triglyceride transfer protein | Ei kirjattu | 1 sairaudessa |
| TMEM107transmembrane protein 107 | Ei kirjattu | 2 sairaudessa |
| TRIM32tripartite motif containing 32 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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