abnormality of the macula Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the macula lutea is an oval-shaped highly pigmented yellow spot near the center of the retina. (Human Phenotype Ontology, HP_0001103)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001103
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Genes

93 genes associated with the abnormality of the macula 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
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATXN7 ataxin 7
BEST1 bestrophin 1
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CDH3 cadherin 3, type 1, P-cadherin (placental)
CHD7 chromodomain helicase DNA binding protein 7
CLDN19 claudin 19
CLN3 ceroid-lipofuscinosis, neuronal 3
CNGB3 cyclic nucleotide gated channel beta 3
COL18A1 collagen, type XVIII, alpha 1
COX1
COX2
COX3
CST3 cystatin C
CTSA cathepsin A
DHDDS dehydrodolichyl diphosphate synthase
EDN3 endothelin 3
EDNRB endothelin receptor type B
ELOVL4 ELOVL fatty acid elongase 4
ELP4 elongator acetyltransferase complex subunit 4
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
FAM58A family with sequence similarity 58, member A
FBLN5 fibulin 5
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GLB1 galactosidase, beta 1
GPR143 G protein-coupled receptor 143
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
HMX1 H6 family homeobox 1
IMPG1 interphotoreceptor matrix proteoglycan 1
LYST lysosomal trafficking regulator
MFRP membrane frizzled-related protein
MITF microphthalmia-associated transcription factor
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TK tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MYO5A myosin VA (heavy chain 12, myoxin)
ND1
NDP Norrie disease (pseudoglioma)
NEU1 sialidase 1 (lysosomal sialidase)
NF2 neurofibromin 2 (merlin)
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NR2E3 nuclear receptor subfamily 2, group E, member 3
OCA2 oculocutaneous albinism II
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
PAX2 paired box 2
PAX6 paired box 6
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PITPNM3 PITPNM family member 3
PPT1 palmitoyl-protein thioesterase 1
PRCD progressive rod-cone degeneration
PROM1 prominin 1
PRPF31 pre-mRNA processing factor 31
PRPH2 peripherin 2 (retinal degeneration, slow)
RAB28 RAB28, member RAS oncogene family
RAX2 retina and anterior neural fold homeobox 2
RD3 retinal degeneration 3
RIMS1 regulating synaptic membrane exocytosis 1
RLBP1 retinaldehyde binding protein 1
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SH3BP2 SH3-domain binding protein 2
SLC38A8 solute carrier family 38, member 8
SLC45A2 solute carrier family 45, member 2
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SOX10 SRY (sex determining region Y)-box 10
SPG11 spastic paraplegia 11 (autosomal recessive)
TIMP3 TIMP metallopeptidase inhibitor 3
TMCO1 transmembrane and coiled-coil domains 1
TRNE
TYR tyrosinase
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
ZFYVE26 zinc finger, FYVE domain containing 26