aplasia/hypoplasia affecting the retina Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008061
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Genes

14 genes associated with the aplasia/hypoplasia affecting the retina phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
COL18A1 collagen, type XVIII, alpha 1
ELP4 elongator acetyltransferase complex subunit 4
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
HMX1 H6 family homeobox 1
LYST lysosomal trafficking regulator
MITF microphthalmia-associated transcription factor
OCA2 oculocutaneous albinism II
PAX6 paired box 6
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
SLC38A8 solute carrier family 38, member 8
SLC45A2 solute carrier family 45, member 2
TYR tyrosinase