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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/progressive-night-blindness.json"
page <- fromJSON(url)
page$trait$nameProgressive night blindnessHP:0007675
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Lees de genen die aan Progressive night blindness gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen35 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.
- Retinitis PigmentosaReads 75 of these genesAHRABCA4AGBL5ARHGEF18ARL2BPARL3About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 11 of these genesCRB1CRXIMPDH1LRATPRPH2RDH12About this report →
- Hereditary Macular DystrophiesReads 7 of these genesBEST1PRPH2RLBP1ROM1RP1L1RDH5About this report →
- RDH5-Related Retinopathy (Fundus Albipunctatus)Reads 3 of these genesPRPH2RLBP1RDH5About this report →
Show 31 more reports
- Congenital Stationary Night BlindnessReads 7 of these genesPDE6BPRPH2RHORLBP1SAGRDH5About this report →
- Bardet-Biedl and Alström SyndromesReads 6 of these genesARL6BBS1BBS2CFAP418IFT172TTC8About this report →
- Stargardt DiseaseReads 2 of these genesABCA4PROM1About this report →
- GUCY2D-Related Dominant Cone-Rod DystrophyReads 1 of these genesGUCY2DAbout this report →
- GUCY2D-Related Recessive RetinopathyReads 1 of these genesGUCY2DAbout this report →
- Gyrate Atrophy of the Choroid and RetinaReads 1 of these genesOATAbout this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- IMPG1-Related Dominant RetinopathyReads 1 of these genesIMPG1About this report →
- IMPG1-Related RetinopathyReads 1 of these genesIMPG1About this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- PROM1-Related Recessive RetinopathyReads 1 of these genesPROM1About this report →
- RDH12-Related Early-Onset Retinal DystrophyReads 1 of these genesRDH12About this report →
- Joubert Syndrome And Related DisordersReads 6 of these genesAHI1ARL3CC2D2AOFD1TMEM216INPP5EAbout this report →
- VitreoretinopathyReads 4 of these genesBEST1NR2E3NRLZNF408About this report →
- Usher SyndromeReads 2 of these genesCLRN1USH2AAbout this report →
- Mucopolysaccharidosis Type III (Sanfilippo Syndrome)Reads 1 of these genesHGSNATAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 3 of these genesAHI1CC2D2ATMEM216About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesIFT43About this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesKLHL7About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesRNU4-2About this report →
- Syndromic CraniosynostosisReads 1 of these genesIFT43About this report →
- Congenital Disorders of GlycosylationReads 2 of these genesDHDDSPOMGNT1About this report →
- Congenital Muscular DystrophiesReads 1 of these genesPOMGNT1About this report →
- Nephrotic SyndromeReads 1 of these genesCOQ8BAbout this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesPOMGNT1About this report →
- Inherited Neurodegenerative DisordersReads 3 of these genesAHI1CC2D2ATMEM216About this report →
- Rare Hereditary Peripheral NeuropathiesReads 2 of these genesKLHL7OATAbout this report →
- Lysosomal Storage DiseaseReads 1 of these genesHGSNATAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesPOU3F4About this report →
- Intellectual DisabilityReads 1 of these genesSCAPERAbout this report →
Lees de genen die aan Progressive night blindness gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen104 genen gekoppeld aan Progressive night blindness
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Progressive night blindness 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 |
|---|---|---|
| AHRaryl hydrocarbon receptor | Altijd | In 2 aandoeningen |
| ABCA4ATP binding cassette subfamily A member 4 | Heel vaak (80–99%) | In 1 aandoening |
| AGBL5AGBL carboxypeptidase 5 | Heel vaak (80–99%) | In 1 aandoening |
| AHI1Abelson helper integration site 1 | Heel vaak (80–99%) | In 1 aandoening |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Heel vaak (80–99%) | In 1 aandoening |
| ARL2BPARF like GTPase 2 binding protein | Heel vaak (80–99%) | In 1 aandoening |
| ARL3ARF like GTPase 3 | Heel vaak (80–99%) | In 1 aandoening |
| ARL6ARF like GTPase 6 | Heel vaak (80–99%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Heel vaak (80–99%) | In 1 aandoening |
| BBS2Bardet-Biedl syndrome 2 | Heel vaak (80–99%) | In 1 aandoening |
| BEST1bestrophin 1 | Heel vaak (80–99%) | In 1 aandoening |
| CA4carbonic anhydrase 4 | Heel vaak (80–99%) | In 1 aandoening |
| CC2D2Acoiled-coil and C2 domain containing 2A | Heel vaak (80–99%) | In 1 aandoening |
| CDHR1cadherin related family member 1 | Heel vaak (80–99%) | In 1 aandoening |
| CERKLCERK like autophagy regulator | Heel vaak (80–99%) | In 1 aandoening |
| CFAP20cilia and flagella associated protein 20 | Heel vaak (80–99%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Heel vaak (80–99%) | In 1 aandoening |
| CLRN1clarin 1 | Heel vaak (80–99%) | In 1 aandoening |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| COQ8Bcoenzyme Q8B | Heel vaak (80–99%) | In 1 aandoening |
| CRB1crumbs cell polarity complex component 1 | Heel vaak (80–99%) | In 1 aandoening |
| CRXcone-rod homeobox | Heel vaak (80–99%) | In 1 aandoening |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Heel vaak (80–99%) | In 1 aandoening |
| DHX38DEAH-box helicase 38 | Heel vaak (80–99%) | In 1 aandoening |
| EYSEGF-like photoreceptor maintenance factor | Heel vaak (80–99%) | In 1 aandoening |
| FAM161AFAM161 centrosomal protein A | Heel vaak (80–99%) | In 1 aandoening |
| FSCN2fascin actin-bundling protein 2, retinal | Heel vaak (80–99%) | In 1 aandoening |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Heel vaak (80–99%) | In 1 aandoening |
| GUCA1Bguanylate cyclase activator 1B | Heel vaak (80–99%) | In 1 aandoening |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| HKDC1hexokinase domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Heel vaak (80–99%) | In 1 aandoening |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Heel vaak (80–99%) | In 1 aandoening |
| IFT140intraflagellar transport 140 | Heel vaak (80–99%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Heel vaak (80–99%) | In 1 aandoening |
| IFT43intraflagellar transport 43 | Heel vaak (80–99%) | In 1 aandoening |
| IFT88intraflagellar transport 88 | Heel vaak (80–99%) | In 1 aandoening |
| IMPDH1inosine monophosphate dehydrogenase 1 | Heel vaak (80–99%) | In 1 aandoening |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 64 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| IMPG2interphotoreceptor matrix proteoglycan 2 | Heel vaak (80–99%) | In 1 aandoening |
| KIAA1549KIAA1549 | Heel vaak (80–99%) | In 1 aandoening |
| KIZkizuna centrosomal protein | Heel vaak (80–99%) | In 1 aandoening |
| KLHL7kelch like family member 7 | Heel vaak (80–99%) | In 1 aandoening |
| LRATlecithin retinol acyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| MAKmale germ cell associated kinase | Heel vaak (80–99%) | In 1 aandoening |
| MERTKMER proto-oncogene, tyrosine kinase | Heel vaak (80–99%) | In 1 aandoening |
| NEK2NIMA related kinase 2 | Heel vaak (80–99%) | In 1 aandoening |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Heel vaak (80–99%) | In 1 aandoening |
| NRLneural retina leucine zipper | Heel vaak (80–99%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Heel vaak (80–99%) | In 1 aandoening |
| PCAREphotoreceptor cilium actin regulator | Heel vaak (80–99%) | In 1 aandoening |
| PDE6Aphosphodiesterase 6A | Heel vaak (80–99%) | In 1 aandoening |
| PDE6Bphosphodiesterase 6B | Heel vaak (80–99%) | In 1 aandoening |
| PDE6Gphosphodiesterase 6G | Heel vaak (80–99%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Heel vaak (80–99%) | In 1 aandoening |
| PRCDphotoreceptor disc component | Heel vaak (80–99%) | In 1 aandoening |
| PROM1prominin 1 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF3pre-mRNA processing factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF31pre-mRNA processing factor 31 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF6pre-mRNA processing factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF8pre-mRNA processing factor 8 | Heel vaak (80–99%) | In 1 aandoening |
| PRPH2peripherin 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| RBP3retinol binding protein 3 | Heel vaak (80–99%) | In 1 aandoening |
| RDH11retinol dehydrogenase 11 | Heel vaak (80–99%) | In 1 aandoening |
| RDH12retinol dehydrogenase 12 | Heel vaak (80–99%) | In 1 aandoening |
| REEP6receptor accessory protein 6 | Heel vaak (80–99%) | In 1 aandoening |
| RGRretinal G protein coupled receptor | Heel vaak (80–99%) | In 1 aandoening |
| RHOrhodopsin | Heel vaak (80–99%) | In 2 aandoeningen |
| RLBP1retinaldehyde binding protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| RNU4-2RNA, U4 small nuclear 2 | Heel vaak (80–99%) | In 1 aandoening |
| RNU6-1RNA, U6 small nuclear 1 | Heel vaak (80–99%) | In 1 aandoening |
| RNU6-2RNA, U6 small nuclear 2 | Heel vaak (80–99%) | In 1 aandoening |
| RNU6-8RNA, U6 small nuclear 8 | Heel vaak (80–99%) | In 1 aandoening |
| RNU6-9RNA, U6 small nuclear 9 | Heel vaak (80–99%) | In 1 aandoening |
| ROM1retinal outer segment membrane protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| RP1RP1 axonemal microtubule associated | Heel vaak (80–99%) | In 1 aandoening |
| RP1L1RP1 like 1 | Heel vaak (80–99%) | In 1 aandoening |
| RP2RP2 activator of ARL3 GTPase | Heel vaak (80–99%) | In 1 aandoening |
| RP9RP9 pre-mRNA splicing factor | Heel vaak (80–99%) | In 1 aandoening |
| RPE65retinoid isomerohydrolase RPE65 | Heel vaak (80–99%) | In 1 aandoening |
| RPGRretinitis pigmentosa GTPase regulator | Heel vaak (80–99%) | In 1 aandoening |
| SAGS-antigen visual arrestin | Heel vaak (80–99%) | In 1 aandoening |
| SAXO6stabilizer of axonemal microtubules 6 | Heel vaak (80–99%) | In 1 aandoening |
| SCAPERS-phase cyclin A associated protein in the ER | Heel vaak (80–99%) | In 1 aandoening |
| SEMA4Asemaphorin 4A | Heel vaak (80–99%) | In 1 aandoening |
| SLC7A14solute carrier family 7 member 14 | Heel vaak (80–99%) | In 1 aandoening |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Heel vaak (80–99%) | In 1 aandoening |
| SPATA7spermatogenesis associated 7 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Heel vaak (80–99%) | In 1 aandoening |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Heel vaak (80–99%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Heel vaak (80–99%) | In 1 aandoening |
| TUBTUB bipartite transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| TULP1TUB like protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| USH2Ausherin | Heel vaak (80–99%) | In 1 aandoening |
| ZNF408zinc finger protein 408 | Heel vaak (80–99%) | In 1 aandoening |
| ZNF513zinc finger protein 513 | Heel vaak (80–99%) | In 1 aandoening |
| INPP5Einositol polyphosphate-5-phosphatase E | Vaak (30–79%) | In 1 aandoening |
| OATornithine aminotransferase | Vaak (30–79%) | In 1 aandoening |
| POU3F4POU class 3 homeobox 4 | Vaak (30–79%) | In 1 aandoening |
| RDH5retinol dehydrogenase 5 | Vaak (30–79%) | In 1 aandoening |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Niet vastgelegd | In 1 aandoening |
| GUCY2Dguanylate cyclase 2D, retinal | 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.
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 2026.10.19-9814e911.
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