microphthalmia Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An eye disease where one or both eyeballs are abnormally small. (Human Disease Ontology, DOID_10629)
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Genes

24 genes involed in the disease microphthalmia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
BCOR BCL6 corepressor
BMP4 bone morphogenetic protein 4
C1QTNF5 C1q and tumor necrosis factor related protein 5
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
HCCS holocytochrome c synthase
HMGB3 high mobility group box 3
HMX1 H6 family homeobox 1
MFRP membrane frizzled-related protein
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
OTX2 orthodenticle homeobox 2
PAX6 paired box 6
RARB retinoic acid receptor, beta
RAX retina and anterior neural fold homeobox
SHH sonic hedgehog
SIX6 SIX homeobox 6
SMOC1 SPARC related modular calcium binding 1
SNX3 sorting nexin 3
SOX2 SRY (sex determining region Y)-box 2
STRA6 stimulated by retinoic acid 6
VAX1 ventral anterior homeobox 1
VSX2 visual system homeobox 2