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Trait
Macular degeneration
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Summary
- Body system
- Abnormality of the eye
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/macular-degeneration.json"
page <- fromJSON(url)
page$trait$nameMacular degenerationHP:0000608
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Get my Genome Test68 genes linked to Macular degeneration
Changes in these genes cause rare conditions in which Macular degeneration is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| CDH3cadherin 3 | Always | In 2 conditions |
| CEP78centrosomal protein 78 | Always | In 1 condition |
| FBN2fibrillin 2 | Always | In 1 condition |
| HYAL2hyaluronidase 2 | Always | In 1 condition |
| PROM1prominin 1 | Always | In 3 conditions |
| RP1L1RP1 like 1 | Always | In 1 condition |
| RPGRIP1RPGR interacting protein 1 | Always | In 1 condition |
| UBAP1Lubiquitin associated protein 1 like | Always | In 1 condition |
| UNC119unc-119 lipid binding chaperone | Always | In 1 condition |
| VWA8von Willebrand factor A domain containing 8 | Always | In 1 condition |
| ZNF513zinc finger protein 513 | Always | In 1 condition |
| ABCA4ATP binding cassette subfamily A member 4 | Very often (80–99%) | In 3 conditions |
| APOEapolipoprotein E | Very often (80–99%) | In 1 condition |
| CFHR1complement factor H related 1 | Very often (80–99%) | In 1 condition |
| CFHR3complement factor H related 3 | Very often (80–99%) | In 1 condition |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Very often (80–99%) | In 1 condition |
| COL18A1collagen type XVIII alpha 1 chain | Very often (80–99%) | In 1 condition |
| ELOVL4ELOVL fatty acid elongase 4 | Very often (80–99%) | In 1 condition |
| HMCN1hemicentin 1 | Very often (80–99%) | In 1 condition |
| PAK2p21 (RAC1) activated kinase 2 | Very often (80–99%) | In 1 condition |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Very often (80–99%) | In 1 condition |
| PRPH2peripherin 2 | Very often (80–99%) | In 1 condition |
| ANO10anoctamin 10 | Often (30–79%) | In 1 condition |
| C1QTNF5C1q and TNF related 5 | Often (30–79%) | In 1 condition |
| CPceruloplasmin | Often (30–79%) | In 1 condition |
| FBLN1fibulin 1 | Often (30–79%) | In 1 condition |
| FBLN5fibulin 5 | Often (30–79%) | In 2 conditions |
| LIG3DNA ligase 3 | Often (30–79%) | In 1 condition |
| RLBP1retinaldehyde binding protein 1 | Often (30–79%) | In 2 conditions |
| AARS1alanyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| ABCC6ATP binding cassette subfamily C member 6 | Sometimes (5–29%) | In 2 conditions |
| ASAH1N-acylsphingosine amidohydrolase 1 | Sometimes (5–29%) | In 1 condition |
| ATXN7ataxin 7 | Sometimes (5–29%) | In 2 conditions |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Sometimes (5–29%) | In 1 condition |
| DBR1debranching RNA lariats 1 | Sometimes (5–29%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| GRK1G protein-coupled receptor kinase 1 | Sometimes (5–29%) | In 1 condition |
| GTF2E2general transcription factor IIE subunit 2 | Sometimes (5–29%) | In 1 condition |
Show 28 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| GTF2H5general transcription factor IIH subunit 5 | Sometimes (5–29%) | In 1 condition |
| IFT140intraflagellar transport 140 | Sometimes (5–29%) | In 1 condition |
| IFT54intraflagellar transport 54 | Sometimes (5–29%) | In 1 condition |
| MPLKIPM-phase specific PLK1 interacting protein | Sometimes (5–29%) | In 1 condition |
| PAX2paired box 2 | Sometimes (5–29%) | In 1 condition |
| PRPF31pre-mRNA processing factor 31 | Sometimes (5–29%) | In 1 condition |
| RNF113Aring finger protein 113A | Sometimes (5–29%) | In 1 condition |
| SAGS-antigen visual arrestin | Sometimes (5–29%) | In 1 condition |
| TARS1threonyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| XYLT1xylosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| XYLT2xylosyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Rarely (1–4%) | In 2 conditions |
| C9complement C9 | Not recorded | In 1 condition |
| CFHcomplement factor H | Not recorded | In 1 condition |
| CFIcomplement factor I | Not recorded | In 1 condition |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Not recorded | In 1 condition |
| CST3cystatin C | Not recorded | In 1 condition |
| GUCA1Bguanylate cyclase activator 1B | Not recorded | In 1 condition |
| PITPNM3PITPNM family member 3 | Not recorded | In 1 condition |
| PPT1palmitoyl-protein thioesterase 1 | Not recorded | In 1 condition |
| PRCDphotoreceptor disc component | Not recorded | In 1 condition |
| RAX2retina and anterior neural fold homeobox 2 | Not recorded | In 2 conditions |
| RPGRretinitis pigmentosa GTPase regulator | Not recorded | In 1 condition |
| SCAPERS-phase cyclin A associated protein in the ER | Not recorded | In 1 condition |
| SEMA4Asemaphorin 4A | Not recorded | In 1 condition |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Not recorded | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Not recorded | In 1 condition |
| ZFYVE26zinc finger FYVE-type containing 26 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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