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Kenmerk
Noninflammatory retina disease
Klinische naam: 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.
Samenvatting
- Lichaamssysteem
- Abnormality of the eye
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Deze pagina als gegevens
Voeg .json toe aan het adres van de pagina, of vraag application/json aan, om haar als JSON te lezen.
library(jsonlite)
url <- "https://dantelabs.com/traits/retinopathy.json"
page <- fromJSON(url)
page$trait$nameNoninflammatory retina diseaseHP:0000488
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Lees de genen die aan Noninflammatory retina disease gekoppeld zijn, en de rest van uw genoom, met één test.
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Mijn Genome Test bestellen98 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
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- Diabetes MellitusReads 11 of these genesABCC8GCKINSKCNJ11PDX1APPL1About this report →
- Neonatal Diabetes MellitusReads 6 of these genesABCC8GCKINSKCNJ11PDX1NEUROD1About this report →
Show 94 more reports
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- BAP1 Tumour Predisposition SyndromeReads 1 of these genesBAP1About this report →
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- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)Reads 1 of these genesIDUAAbout this report →
- PDX1-Related Pancreatic AgenesisReads 1 of these genesPDX1About this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- Sickle Cell DiseaseReads 1 of these genesHBBAbout this report →
- Meckel SyndromeReads 3 of these genesB9D1TMEM231TMEM107About this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 3 of these genesIFNGR1IL12BIL23RAbout this report →
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- Age-Related Macular DegenerationReads 1 of these genesMFSD8About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 1 of these genesPTCH1About this report →
- Pseudoxanthoma ElasticumReads 1 of these genesABCC6About this report →
- Severe Inherited Insulin ResistanceReads 1 of these genesINSRAbout this report →
- STAT1 and STAT3 Gain-of-Function DiseaseReads 1 of these genesSTAT3About this report →
- TRIP11-Related Skeletal DysplasiaReads 1 of these genesMIA3About this report →
- Other Inborn Errors of ImmunityReads 10 of these genesKRASSTAT3C4ACTLA4FASIL10About this report →
- Familial Pulmonary FibrosisReads 2 of these genesPOT1TERTAbout this report →
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- Dyskeratosis CongenitaReads 3 of these genesACDPOT1TERTAbout this report →
- DNA Repair DiseaseReads 4 of these genesERCC2ERCC3ERCC4ERCC5About this report →
- Griscelli SyndromeReads 1 of these genesMYO5AAbout this report →
- Primary HyperoxaluriaReads 1 of these genesAGXTAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 3 of these genesERCC2ERCC5BMP4About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 4 of these genesTMEM231ATG7CSPP1MTTPAbout this report →
- Inherited Neurodegenerative DisordersReads 10 of these genesPEX7TMEM231AP5Z1ATG7CSPP1LETM1About this report →
- Monogenic Hypertension & Mineralocorticoid DisordersReads 2 of these genesCYP11B1CYP11B2About this report →
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- Polycystic Liver Disease (1 and 2)Reads 1 of these genesALG8About this report →
- TubulinopathiesReads 1 of these genesTUBBAbout this report →
- Inherited Complement and Properdin DeficienciesReads 2 of these genesC4AC4BAbout this report →
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- Inflammatory Bowel Diseases (IBD)Reads 1 of these genesIL10About this report →
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- Hyper-IgE SyndromeReads 1 of these genesSTAT3About this report →
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- IPEX Syndrome and Other TregopathiesReads 1 of these genesCTLA4About this report →
- Waardenburg SyndromeReads 1 of these genesMITFAbout this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesTREX1About this report →
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)Reads 1 of these genesENPP1About this report →
- PolycythemiaReads 1 of these genesHBBAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 2 of these genesTNFAIP3TREX1About this report →
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- Intellectual DisabilityReads 5 of these genesZMYM3CREBBPNSD2PIGGMECP2About this report →
- Common Variable Immunodeficiency (Monogenic CVID)Reads 1 of these genesCR2About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesPANK2About this report →
- Congenital Disorders of GlycosylationReads 3 of these genesALG8DPM1PIGGAbout this report →
- Polycystic Kidney DiseaseReads 1 of these genesALG8About this report →
- Type I InterferonopathiesReads 1 of these genesTREX1About this report →
- Urinary and Renal System TumourReads 1 of these genesBAP1About this report →
- Neuronal Ceroid LipofuscinosisReads 1 of these genesMFSD8About this report →
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- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesTUBBAbout this report →
- Hypertrophic CardiomyopathyReads 2 of these genesKRASHADHAAbout this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 1 of these genesHADHAAbout this report →
- Hereditary Hypotrichosis, Woolly Hair and MonilethrixReads 1 of these genesCDH3About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesKIF11About this report →
- Fanconi AnemiaReads 1 of these genesERCC4About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesMCOLN1About this report →
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Lees de genen die aan Noninflammatory retina disease gekoppeld zijn, en de rest van uw genoom, met één test.
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Mijn Genome Test bestellen142 genen gekoppeld aan Noninflammatory retina disease
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Noninflammatory retina disease voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Altijd | In 3 aandoeningen |
| COX15cytochrome c oxidase assembly factor COX15 | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 1 aandoening |
| GTF3C3general transcription factor IIIC subunit 3 | Altijd | In 1 aandoening |
| NOTCH3notch receptor 3 | Altijd | In 1 aandoening |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altijd | In 1 aandoening |
| ZMYM3zinc finger MYM-type containing 3 | Altijd | In 1 aandoening |
| ABCC6ATP binding cassette subfamily C member 6 | Heel vaak (80–99%) | In 1 aandoening |
| CDH3cadherin 3 | Heel vaak (80–99%) | In 1 aandoening |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Heel vaak (80–99%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC5ERCC excision repair 5, endonuclease | Heel vaak (80–99%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Heel vaak (80–99%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| MCOLN1mucolipin TRP cation channel 1 | Heel vaak (80–99%) | In 1 aandoening |
| MYO5Amyosin VA | Heel vaak (80–99%) | In 1 aandoening |
| NEU1neuraminidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| PEX7peroxisomal biogenesis factor 7 | Heel vaak (80–99%) | In 1 aandoening |
| PHYHphytanoyl-CoA 2-hydroxylase | Heel vaak (80–99%) | In 1 aandoening |
| PTCH1patched 1 | Heel vaak (80–99%) | In 1 aandoening |
| SAR1Bsecretion associated Ras related GTPase 1B | Heel vaak (80–99%) | In 1 aandoening |
| TXN2thioredoxin 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| B9D1B9 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| BMP4bone morphogenetic protein 4 | Vaak (30–79%) | In 1 aandoening |
| COL11A1collagen type XI alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| GCKglucokinase | Vaak (30–79%) | In 2 aandoeningen |
| HBBhemoglobin subunit beta | Vaak (30–79%) | In 3 aandoeningen |
| IDUAalpha-L-iduronidase | Vaak (30–79%) | In 1 aandoening |
| INSinsulin | Vaak (30–79%) | In 2 aandoeningen |
| ITGAVintegrin subunit alpha V | Vaak (30–79%) | In 1 aandoening |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Vaak (30–79%) | In 2 aandoeningen |
| MIA3MIA SH3 domain ER export factor 3 | Vaak (30–79%) | In 1 aandoening |
| PDX1pancreatic and duodenal homeobox 1 | Vaak (30–79%) | In 2 aandoeningen |
| PROS1protein S | Vaak (30–79%) | In 1 aandoening |
| STAT3signal transducer and activator of transcription 3 | Vaak (30–79%) | In 1 aandoening |
| TMEM231transmembrane protein 231 | Vaak (30–79%) | In 1 aandoening |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Soms (5–29%) | In 1 aandoening |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Soms (5–29%) | In 1 aandoening |
Toon nog 102 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Soms (5–29%) | In 2 aandoeningen |
| APPL1adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | Soms (5–29%) | In 1 aandoening |
| ATG7autophagy related 7 | Soms (5–29%) | In 1 aandoening |
| BAP1BRCA1 associated deubiquitinase 1 | Soms (5–29%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Soms (5–29%) | In 1 aandoening |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Soms (5–29%) | In 2 aandoeningen |
| C4Acomplement C4A (Chido/Rodgers blood group) | Soms (5–29%) | In 2 aandoeningen |
| CCR1C-C motif chemokine receptor 1 | Soms (5–29%) | In 1 aandoening |
| CDK4cyclin dependent kinase 4 | Soms (5–29%) | In 1 aandoening |
| CDKN2Acyclin dependent kinase inhibitor 2A | Soms (5–29%) | In 1 aandoening |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Soms (5–29%) | In 1 aandoening |
| CELcarboxyl ester lipase | Soms (5–29%) | In 1 aandoening |
| CPLX1complexin 1 | Soms (5–29%) | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Soms (5–29%) | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Soms (5–29%) | In 1 aandoening |
| CTBP1C-terminal binding protein 1 | Soms (5–29%) | In 1 aandoening |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Soms (5–29%) | In 2 aandoeningen |
| CYP11B1cytochrome P450 family 11 subfamily B member 1 | Soms (5–29%) | In 1 aandoening |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Soms (5–29%) | In 1 aandoening |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Soms (5–29%) | In 2 aandoeningen |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Soms (5–29%) | In 1 aandoening |
| FASFas cell surface death receptor | Soms (5–29%) | In 1 aandoening |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Soms (5–29%) | In 1 aandoening |
| HBG1hemoglobin subunit gamma 1 | Soms (5–29%) | In 1 aandoening |
| HBG2hemoglobin subunit gamma 2 | Soms (5–29%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Soms (5–29%) | In 2 aandoeningen |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Soms (5–29%) | In 1 aandoening |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Soms (5–29%) | In 1 aandoening |
| HNF1AHNF1 homeobox A | Soms (5–29%) | In 1 aandoening |
| HNF4Ahepatocyte nuclear factor 4 alpha | Soms (5–29%) | In 1 aandoening |
| IFNGR1interferon gamma receptor 1 | Soms (5–29%) | In 1 aandoening |
| IL10interleukin 10 | Soms (5–29%) | In 2 aandoeningen |
| IL12Ainterleukin 12A | Soms (5–29%) | In 1 aandoening |
| IL12A-AS1IL12A antisense RNA 1 | Soms (5–29%) | In 1 aandoening |
| IL12Binterleukin 12B | Soms (5–29%) | In 1 aandoening |
| IL23Rinterleukin 23 receptor | Soms (5–29%) | In 1 aandoening |
| INSRinsulin receptor | Soms (5–29%) | In 1 aandoening |
| KIF11kinesin family member 11 | Soms (5–29%) | In 1 aandoening |
| KLF1KLF transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| KLF11KLF transcription factor 11 | Soms (5–29%) | In 1 aandoening |
| KLRC4killer cell lectin like receptor C4 | Soms (5–29%) | In 1 aandoening |
| LAMP2lysosome associated membrane protein 2 | Soms (5–29%) | In 1 aandoening |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Soms (5–29%) | In 1 aandoening |
| MAPRE2microtubule associated protein RP/EB family member 2 | Soms (5–29%) | In 1 aandoening |
| MC1Rmelanocortin 1 receptor | Soms (5–29%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Soms (5–29%) | In 1 aandoening |
| MGMTO-6-methylguanine-DNA methyltransferase | Soms (5–29%) | In 1 aandoening |
| MITFmelanocyte inducing transcription factor | Soms (5–29%) | In 1 aandoening |
| MLXMAX dimerization protein MLX | Soms (5–29%) | In 1 aandoening |
| NELFAnegative elongation factor complex member A | Soms (5–29%) | In 1 aandoening |
| NEUROD1neuronal differentiation 1 | Soms (5–29%) | In 1 aandoening |
| NOD2nucleotide binding oligomerization domain containing 2 | Soms (5–29%) | In 1 aandoening |
| NSD2nuclear receptor binding SET domain protein 2 | Soms (5–29%) | In 1 aandoening |
| PAX4paired box 4 | Soms (5–29%) | In 1 aandoening |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Soms (5–29%) | In 1 aandoening |
| PLK4polo like kinase 4 | Soms (5–29%) | In 1 aandoening |
| POT1protection of telomeres 1 | Soms (5–29%) | In 1 aandoening |
| PRTN3proteinase 3 | Soms (5–29%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Soms (5–29%) | In 2 aandoeningen |
| STAT4signal transducer and activator of transcription 4 | Soms (5–29%) | In 2 aandoeningen |
| TERF2IPTERF2 interacting protein | Soms (5–29%) | In 1 aandoening |
| TERTtelomerase reverse transcriptase | Soms (5–29%) | In 1 aandoening |
| TLR4toll like receptor 4 | Soms (5–29%) | In 1 aandoening |
| TNFRSF11BTNF receptor superfamily member 11b | Soms (5–29%) | In 1 aandoening |
| TUBBtubulin beta class I | Soms (5–29%) | In 1 aandoening |
| UBAC2UBA domain containing 2 | Soms (5–29%) | In 1 aandoening |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Zelden (1–4%) | In 1 aandoening |
| BLMBLM RecQ like helicase | Zelden (1–4%) | In 1 aandoening |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Zelden (1–4%) | In 1 aandoening |
| CR2complement C3d receptor 2 | Zelden (1–4%) | In 1 aandoening |
| DNASE1deoxyribonuclease 1 | Zelden (1–4%) | In 1 aandoening |
| ETS1ETS proto-oncogene 1, transcription factor | Zelden (1–4%) | In 1 aandoening |
| FCGR2BFc gamma receptor IIb | Zelden (1–4%) | In 1 aandoening |
| FCGR3BFc gamma receptor IIIb | Zelden (1–4%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Zelden (1–4%) | In 1 aandoening |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Zelden (1–4%) | In 1 aandoening |
| IRAK1interleukin 1 receptor associated kinase 1 | Zelden (1–4%) | In 1 aandoening |
| IRF5interferon regulatory factor 5 | Zelden (1–4%) | In 1 aandoening |
| ITGAMintegrin subunit alpha M | Zelden (1–4%) | In 1 aandoening |
| JAZF1JAZF zinc finger 1 | Zelden (1–4%) | In 1 aandoening |
| KIAA0319LKIAA0319 like | Zelden (1–4%) | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Zelden (1–4%) | In 1 aandoening |
| PANK2pantothenate kinase 2 | Zelden (1–4%) | In 1 aandoening |
| PDCD1programmed cell death 1 | Zelden (1–4%) | In 1 aandoening |
| PRUNE1prune exopolyphosphatase 1 | Zelden (1–4%) | In 1 aandoening |
| PXKPX domain containing serine/threonine kinase like | Zelden (1–4%) | In 1 aandoening |
| SPP1secreted phosphoprotein 1 | Zelden (1–4%) | In 1 aandoening |
| TLR7toll like receptor 7 | Zelden (1–4%) | In 1 aandoening |
| TNFAIP3TNF alpha induced protein 3 | Zelden (1–4%) | In 1 aandoening |
| TNFSF4TNF superfamily member 4 | Zelden (1–4%) | In 1 aandoening |
| TNIP1TNFAIP3 interacting protein 1 | Zelden (1–4%) | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Zelden (1–4%) | In 1 aandoening |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Zelden (1–4%) | In 1 aandoening |
| AGXTalanine--glyoxylate aminotransferase | Niet vastgelegd | In 1 aandoening |
| C1QTNF5C1q and TNF related 5 | Niet vastgelegd | In 1 aandoening |
| CTNScystinosin, lysosomal cystine transporter | Niet vastgelegd | In 2 aandoeningen |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Niet vastgelegd | In 1 aandoening |
| MFSD8major facilitator superfamily domain containing 8 | Niet vastgelegd | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Niet vastgelegd | In 1 aandoening |
| MTTPmicrosomal triglyceride transfer protein | Niet vastgelegd | In 1 aandoening |
| TMEM107transmembrane protein 107 | Niet vastgelegd | In 2 aandoeningen |
| TRIM32tripartite motif containing 32 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.18-8b139e39.
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