aplasia/hypoplasia affecting the fundus Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008057
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Genes

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

Symbol Name
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
COL18A1 collagen, type XVIII, alpha 1
DDHD2 DDHD domain containing 2
ELP4 elongator acetyltransferase complex subunit 4
FGFR1 fibroblast growth factor receptor 1
GALNTL5 polypeptide N-acetylgalactosaminyltransferase-like 5
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GLI2 GLI family zinc finger 2
HESX1 HESX homeobox 1
HMX1 H6 family homeobox 1
ISPD isoprenoid synthase domain containing
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LYST lysosomal trafficking regulator
MITF microphthalmia-associated transcription factor
OCA2 oculocutaneous albinism II
OTX2 orthodenticle homeobox 2
PAX6 paired box 6
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POU1F1 POU class 1 homeobox 1
PROKR2 prokineticin receptor 2
PROP1 PROP paired-like homeobox 1
PTF1A pancreas specific transcription factor, 1a
SALL4 spalt-like transcription factor 4
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SLC38A8 solute carrier family 38, member 8
SLC45A2 solute carrier family 45, member 2
SNAP29 synaptosomal-associated protein, 29kDa
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
TRIM37 tripartite motif containing 37
TUBA8 tubulin, alpha 8
TYR tyrosinase
WNT3 wingless-type MMTV integration site family, member 3