Bilateral Microphthalmos Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A developmental anomaly characterized by abnormal smallness of both eyes. (Human Phenotype Ontology, HP_0007633)
External Link https://www.disgenet.org/browser/0/1/0/C1843496
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Genes

34 genes associated with the disease Bilateral Microphthalmos in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
BMP4 bone morphogenetic protein 4
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
FAM111A family with sequence similarity 111, member A
FIG4 FIG4 phosphoinositide 5-phosphatase
FOXE3 forkhead box E3
FRAS1 Fraser extracellular matrix complex subunit 1
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GH1 growth hormone 1
GJA1 gap junction protein, alpha 1, 43kDa
GJA3 gap junction protein, alpha 3, 46kDa
GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa
GTF2H5 general transcription factor IIH, polypeptide 5
HCCS holocytochrome c synthase
KMT2A lysine (K)-specific methyltransferase 2A
MPLKIP M-phase specific PLK1 interacting protein
OLFM2 olfactomedin 2
OTX2 orthodenticle homeobox 2
PAX6 paired box 6
PEX6 peroxisomal biogenesis factor 6
PTCH1 patched 1
PUF60 poly-U binding splicing factor 60KDa
PXDN peroxidasin
RAX retina and anterior neural fold homeobox
RNF113A ring finger protein 113A
RTTN rotatin
SHH sonic hedgehog
SOX2 SRY (sex determining region Y)-box 2
STRA6 stimulated by retinoic acid 6
TCOF1 Treacher Collins-Franceschetti syndrome 1
VAC14 Vac14 homolog (S. cerevisiae)
YAP1 Yes-associated protein 1