Træk
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.
Resumé
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test142 gener knyttet til Noninflammatory retina disease
Ændringer i disse gener forårsager sjældne tilstande, hvor Noninflammatory retina disease ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Altid | I 3 tilstande |
| COX15cytochrome c oxidase assembly factor COX15 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| NOTCH3notch receptor 3 | Altid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altid | I 1 tilstand |
| ZMYM3zinc finger MYM-type containing 3 | Altid | I 1 tilstand |
| ABCC6ATP binding cassette subfamily C member 6 | Meget ofte (80–99 %) | I 1 tilstand |
| CDH3cadherin 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Meget ofte (80–99 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| MCOLN1mucolipin TRP cation channel 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MYO5Amyosin VA | Meget ofte (80–99 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Meget ofte (80–99 %) | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Meget ofte (80–99 %) | I 1 tilstand |
| PTCH1patched 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SAR1Bsecretion associated Ras related GTPase 1B | Meget ofte (80–99 %) | I 1 tilstand |
| TXN2thioredoxin 2 | Meget ofte (80–99 %) | I 2 tilstande |
| 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 tilstande |
| HBBhemoglobin subunit beta | Ofte (30–79 %) | I 3 tilstande |
| IDUAalpha-L-iduronidase | Ofte (30–79 %) | I 1 tilstand |
| INSinsulin | Ofte (30–79 %) | I 2 tilstande |
| ITGAVintegrin subunit alpha V | Ofte (30–79 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Ofte (30–79 %) | I 2 tilstande |
| MIA3MIA SH3 domain ER export factor 3 | Ofte (30–79 %) | I 1 tilstand |
| PDX1pancreatic and duodenal homeobox 1 | Ofte (30–79 %) | I 2 tilstande |
| 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 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
Vis 102 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| APPL1adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATG7autophagy related 7 | Nogle gange (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Nogle gange (5–29 %) | I 1 tilstand |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Nogle gange (5–29 %) | I 2 tilstande |
| C4Acomplement C4A (Chido/Rodgers blood group) | Nogle gange (5–29 %) | I 2 tilstande |
| CCR1C-C motif chemokine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CDK4cyclin dependent kinase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| CDKN2Acyclin dependent kinase inhibitor 2A | Nogle gange (5–29 %) | I 1 tilstand |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Nogle gange (5–29 %) | I 1 tilstand |
| CELcarboxyl ester lipase | Nogle gange (5–29 %) | I 1 tilstand |
| CPLX1complexin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Nogle gange (5–29 %) | I 2 tilstande |
| CYP11B1cytochrome P450 family 11 subfamily B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Nogle gange (5–29 %) | I 2 tilstande |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FASFas cell surface death receptor | Nogle gange (5–29 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| HBG1hemoglobin subunit gamma 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HBG2hemoglobin subunit gamma 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 2 tilstande |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HNF1AHNF1 homeobox A | Nogle gange (5–29 %) | I 1 tilstand |
| HNF4Ahepatocyte nuclear factor 4 alpha | Nogle gange (5–29 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL10interleukin 10 | Nogle gange (5–29 %) | I 2 tilstande |
| IL12Ainterleukin 12A | Nogle gange (5–29 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL12Binterleukin 12B | Nogle gange (5–29 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| INSRinsulin receptor | Nogle gange (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| KLF1KLF transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KLF11KLF transcription factor 11 | Nogle gange (5–29 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMP2lysosome associated membrane protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MC1Rmelanocortin 1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Nogle gange (5–29 %) | I 1 tilstand |
| MGMTO-6-methylguanine-DNA methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| MITFmelanocyte inducing transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| MLXMAX dimerization protein MLX | Nogle gange (5–29 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Nogle gange (5–29 %) | I 1 tilstand |
| NEUROD1neuronal differentiation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NOD2nucleotide binding oligomerization domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PAX4paired box 4 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| PLK4polo like kinase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| POT1protection of telomeres 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PRTN3proteinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Nogle gange (5–29 %) | I 2 tilstande |
| STAT4signal transducer and activator of transcription 4 | Nogle gange (5–29 %) | I 2 tilstande |
| TERF2IPTERF2 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Nogle gange (5–29 %) | I 1 tilstand |
| TLR4toll like receptor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TNFRSF11BTNF receptor superfamily member 11b | Nogle gange (5–29 %) | I 1 tilstand |
| TUBBtubulin beta class I | Nogle gange (5–29 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Sjældent (1–4%) | I 1 tilstand |
| BLMBLM RecQ like helicase | Sjældent (1–4%) | I 1 tilstand |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Sjældent (1–4%) | I 1 tilstand |
| CR2complement C3d receptor 2 | Sjældent (1–4%) | I 1 tilstand |
| DNASE1deoxyribonuclease 1 | Sjældent (1–4%) | I 1 tilstand |
| ETS1ETS proto-oncogene 1, transcription factor | Sjældent (1–4%) | I 1 tilstand |
| FCGR2BFc gamma receptor IIb | Sjældent (1–4%) | I 1 tilstand |
| FCGR3BFc gamma receptor IIIb | Sjældent (1–4%) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sjældent (1–4%) | I 1 tilstand |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Sjældent (1–4%) | I 1 tilstand |
| IRAK1interleukin 1 receptor associated kinase 1 | Sjældent (1–4%) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Sjældent (1–4%) | I 1 tilstand |
| ITGAMintegrin subunit alpha M | Sjældent (1–4%) | I 1 tilstand |
| JAZF1JAZF zinc finger 1 | Sjældent (1–4%) | I 1 tilstand |
| KIAA0319LKIAA0319 like | Sjældent (1–4%) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Sjældent (1–4%) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Sjældent (1–4%) | I 1 tilstand |
| PDCD1programmed cell death 1 | Sjældent (1–4%) | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Sjældent (1–4%) | I 1 tilstand |
| PXKPX domain containing serine/threonine kinase like | Sjældent (1–4%) | I 1 tilstand |
| SPP1secreted phosphoprotein 1 | Sjældent (1–4%) | I 1 tilstand |
| TLR7toll like receptor 7 | Sjældent (1–4%) | I 1 tilstand |
| TNFAIP3TNF alpha induced protein 3 | Sjældent (1–4%) | I 1 tilstand |
| TNFSF4TNF superfamily member 4 | Sjældent (1–4%) | I 1 tilstand |
| TNIP1TNFAIP3 interacting protein 1 | Sjældent (1–4%) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Sjældent (1–4%) | I 1 tilstand |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Sjældent (1–4%) | I 1 tilstand |
| AGXTalanine--glyoxylate aminotransferase | Ikke registreret | I 1 tilstand |
| C1QTNF5C1q and TNF related 5 | Ikke registreret | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Ikke registreret | I 2 tilstande |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ikke registreret | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Ikke registreret | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ikke registreret | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Ikke registreret | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ikke registreret | I 2 tilstande |
| TRIM32tripartite motif containing 32 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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Fra 449 $Gratis forsendelse · Resultater på 6–8 uger