Microphthalmia Gene Set
Genes
32 genes involed in the disease Microphthalmia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
| Symbol |
Name |
Standardized Value |
|
PAX6
|
paired box 6
|
5.0
|
|
NUP188
|
nucleoporin 188kDa
|
4.0
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
4.0
|
|
SNX3
|
sorting nexin 3
|
4.0
|
|
HCCS
|
holocytochrome c synthase
|
4.0
|
|
MITF
|
microphthalmia-associated transcription factor
|
4.0
|
|
RAX
|
retina and anterior neural fold homeobox
|
4.0
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
4.0
|
|
SIX6
|
SIX homeobox 6
|
4.0
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
4.0
|
|
CAPN15
|
calpain 15
|
4.0
|
|
VSX2
|
visual system homeobox 2
|
4.0
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
4.0
|
|
MFRP
|
membrane frizzled-related protein
|
4.0
|
|
GDF3
|
growth differentiation factor 3
|
4.0
|
|
SHH
|
sonic hedgehog
|
4.0
|
|
BMP4
|
bone morphogenetic protein 4
|
4.0
|
|
HMGB3
|
high mobility group box 3
|
4.0
|
|
STRA6
|
stimulated by retinoic acid 6
|
4.0
|
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
4.0
|
|
BCOR
|
BCL6 corepressor
|
4.0
|
|
MAB21L2
|
mab-21-like 2 (C. elegans)
|
4.0
|
|
RARB
|
retinoic acid receptor, beta
|
4.0
|
|
VAX1
|
ventral anterior homeobox 1
|
4.0
|
|
PRSS56
|
protease, serine, 56
|
4.0
|
|
FZD5
|
frizzled class receptor 5
|
4.0
|
|
OTX2
|
orthodenticle homeobox 2
|
4.0
|
|
ALDH1A3
|
aldehyde dehydrogenase 1 family, member A3
|
4.0
|
|
RBP4
|
retinol binding protein 4, plasma
|
4.0
|
|
TENM3
|
teneurin transmembrane protein 3
|
4.0
|
|
HMX1
|
H6 family homeobox 1
|
4.0
|
|
GDF6
|
growth differentiation factor 6
|
4.0
|
