Egenskap
Noninflammatory retina disease
Klinisk navn: 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.
Sammendrag
- Kroppssystem
- Abnormality of the eye
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test142 gener knyttet til Noninflammatory retina disease
Endringer i disse genene forårsaker sjeldne tilstander der Noninflammatory retina disease forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Alltid | I 3 tilstander |
| COX15cytochrome c oxidase assembly factor COX15 | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| NOTCH3notch receptor 3 | Alltid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alltid | I 1 tilstand |
| ZMYM3zinc finger MYM-type containing 3 | Alltid | I 1 tilstand |
| ABCC6ATP binding cassette subfamily C member 6 | Svært ofte (80–99 %) | I 1 tilstand |
| CDH3cadherin 3 | Svært ofte (80–99 %) | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| MCOLN1mucolipin TRP cation channel 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MYO5Amyosin VA | Svært ofte (80–99 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Svært ofte (80–99 %) | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Svært ofte (80–99 %) | I 1 tilstand |
| PTCH1patched 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SAR1Bsecretion associated Ras related GTPase 1B | Svært ofte (80–99 %) | I 1 tilstand |
| TXN2thioredoxin 2 | Svært ofte (80–99 %) | I 2 tilstander |
| B9D1B9 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ofte (30–79 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| GCKglucokinase | Ofte (30–79 %) | I 2 tilstander |
| HBBhemoglobin subunit beta | Ofte (30–79 %) | I 3 tilstander |
| IDUAalpha-L-iduronidase | Ofte (30–79 %) | I 1 tilstand |
| INSinsulin | Ofte (30–79 %) | I 2 tilstander |
| ITGAVintegrin subunit alpha V | Ofte (30–79 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Ofte (30–79 %) | I 2 tilstander |
| MIA3MIA SH3 domain ER export factor 3 | Ofte (30–79 %) | I 1 tilstand |
| PDX1pancreatic and duodenal homeobox 1 | Ofte (30–79 %) | I 2 tilstander |
| PROS1protein S | Ofte (30–79 %) | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Noen ganger (5–29 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
Vis 102 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| APPL1adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATG7autophagy related 7 | Noen ganger (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Noen ganger (5–29 %) | I 1 tilstand |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Noen ganger (5–29 %) | I 2 tilstander |
| C4Acomplement C4A (Chido/Rodgers blood group) | Noen ganger (5–29 %) | I 2 tilstander |
| CCR1C-C motif chemokine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDK4cyclin dependent kinase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| CDKN2Acyclin dependent kinase inhibitor 2A | Noen ganger (5–29 %) | I 1 tilstand |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Noen ganger (5–29 %) | I 1 tilstand |
| CELcarboxyl ester lipase | Noen ganger (5–29 %) | I 1 tilstand |
| CPLX1complexin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Noen ganger (5–29 %) | I 2 tilstander |
| CYP11B1cytochrome P450 family 11 subfamily B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Noen ganger (5–29 %) | I 2 tilstander |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FASFas cell surface death receptor | Noen ganger (5–29 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| HBG1hemoglobin subunit gamma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HBG2hemoglobin subunit gamma 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Noen ganger (5–29 %) | I 2 tilstander |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HNF1AHNF1 homeobox A | Noen ganger (5–29 %) | I 1 tilstand |
| HNF4Ahepatocyte nuclear factor 4 alpha | Noen ganger (5–29 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL10interleukin 10 | Noen ganger (5–29 %) | I 2 tilstander |
| IL12Ainterleukin 12A | Noen ganger (5–29 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL12Binterleukin 12B | Noen ganger (5–29 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| INSRinsulin receptor | Noen ganger (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| KLF1KLF transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KLF11KLF transcription factor 11 | Noen ganger (5–29 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMP2lysosome associated membrane protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MC1Rmelanocortin 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Noen ganger (5–29 %) | I 1 tilstand |
| MGMTO-6-methylguanine-DNA methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| MITFmelanocyte inducing transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| MLXMAX dimerization protein MLX | Noen ganger (5–29 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Noen ganger (5–29 %) | I 1 tilstand |
| NEUROD1neuronal differentiation 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NOD2nucleotide binding oligomerization domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PAX4paired box 4 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| PLK4polo like kinase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| POT1protection of telomeres 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PRTN3proteinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Noen ganger (5–29 %) | I 2 tilstander |
| STAT4signal transducer and activator of transcription 4 | Noen ganger (5–29 %) | I 2 tilstander |
| TERF2IPTERF2 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Noen ganger (5–29 %) | I 1 tilstand |
| TLR4toll like receptor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TNFRSF11BTNF receptor superfamily member 11b | Noen ganger (5–29 %) | I 1 tilstand |
| TUBBtubulin beta class I | Noen ganger (5–29 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Sjelden (1–4%) | I 1 tilstand |
| BLMBLM RecQ like helicase | Sjelden (1–4%) | I 1 tilstand |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Sjelden (1–4%) | I 1 tilstand |
| CR2complement C3d receptor 2 | Sjelden (1–4%) | I 1 tilstand |
| DNASE1deoxyribonuclease 1 | Sjelden (1–4%) | I 1 tilstand |
| ETS1ETS proto-oncogene 1, transcription factor | Sjelden (1–4%) | I 1 tilstand |
| FCGR2BFc gamma receptor IIb | Sjelden (1–4%) | I 1 tilstand |
| FCGR3BFc gamma receptor IIIb | Sjelden (1–4%) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sjelden (1–4%) | I 1 tilstand |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Sjelden (1–4%) | I 1 tilstand |
| IRAK1interleukin 1 receptor associated kinase 1 | Sjelden (1–4%) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Sjelden (1–4%) | I 1 tilstand |
| ITGAMintegrin subunit alpha M | Sjelden (1–4%) | I 1 tilstand |
| JAZF1JAZF zinc finger 1 | Sjelden (1–4%) | I 1 tilstand |
| KIAA0319LKIAA0319 like | Sjelden (1–4%) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Sjelden (1–4%) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Sjelden (1–4%) | I 1 tilstand |
| PDCD1programmed cell death 1 | Sjelden (1–4%) | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Sjelden (1–4%) | I 1 tilstand |
| PXKPX domain containing serine/threonine kinase like | Sjelden (1–4%) | I 1 tilstand |
| SPP1secreted phosphoprotein 1 | Sjelden (1–4%) | I 1 tilstand |
| TLR7toll like receptor 7 | Sjelden (1–4%) | I 1 tilstand |
| TNFAIP3TNF alpha induced protein 3 | Sjelden (1–4%) | I 1 tilstand |
| TNFSF4TNF superfamily member 4 | Sjelden (1–4%) | I 1 tilstand |
| TNIP1TNFAIP3 interacting protein 1 | Sjelden (1–4%) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Sjelden (1–4%) | I 1 tilstand |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Sjelden (1–4%) | I 1 tilstand |
| AGXTalanine--glyoxylate aminotransferase | Ikke registrert | I 1 tilstand |
| C1QTNF5C1q and TNF related 5 | Ikke registrert | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Ikke registrert | I 2 tilstander |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ikke registrert | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Ikke registrert | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ikke registrert | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Ikke registrert | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ikke registrert | I 2 tilstander |
| TRIM32tripartite motif containing 32 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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