macular degeneration Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss. (Human Disease Ontology, DOID_4448)
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27 genes associated with the macular degeneration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ATXN7 ataxin 7
BEST1 bestrophin 1
CDH3 cadherin 3, type 1, P-cadherin (placental)
CLN3 ceroid-lipofuscinosis, neuronal 3
CNGB3 cyclic nucleotide gated channel beta 3
CST3 cystatin C
ELOVL4 ELOVL fatty acid elongase 4
FBLN5 fibulin 5
NR2E3 nuclear receptor subfamily 2, group E, member 3
PAX2 paired box 2
PITPNM3 PITPNM family member 3
PPT1 palmitoyl-protein thioesterase 1
PRCD progressive rod-cone degeneration
PROM1 prominin 1
PRPF31 pre-mRNA processing factor 31
RAX2 retina and anterior neural fold homeobox 2
RLBP1 retinaldehyde binding protein 1
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SPG11 spastic paraplegia 11 (autosomal recessive)
TIMP3 TIMP metallopeptidase inhibitor 3
ZFYVE26 zinc finger, FYVE domain containing 26