Coloboma Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. (Human Disease Ontology, DOID_12270)
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Genes

86 genes involed in the disease Coloboma from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Symbol Name Standardized Value
BMP7 bone morphogenetic protein 7 5.0
HCCS holocytochrome c synthase 5.0
FREM2 FRAS1 related extracellular matrix protein 2 5.0
FREM1 FRAS1 related extracellular matrix 1 5.0
RAX retina and anterior neural fold homeobox 5.0
ZEB2 zinc finger E-box binding homeobox 2 5.0
ACTG1 actin gamma 1 5.0
KMT2D lysine (K)-specific methyltransferase 2D 5.0
FNBP4 formin binding protein 4 5.0
PAX2 paired box 2 5.0
PAX6 paired box 6 5.0
PQBP1 polyglutamine binding protein 1 5.0
BMP4 bone morphogenetic protein 4 5.0
CHD7 chromodomain helicase DNA binding protein 7 5.0
ATOH7 atonal homolog 7 (Drosophila) 5.0
SHH sonic hedgehog 5.0
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit 5.0
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like) 5.0
CC2D2A coiled-coil and C2 domain containing 2A 5.0
DPYD dihydropyrimidine dehydrogenase 5.0
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta 5.0
SOX2 SRY (sex determining region Y)-box 2 5.0
SIX6 SIX homeobox 6 5.0
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 5.0
MFRP membrane frizzled-related protein 5.0
GDF3 growth differentiation factor 3 5.0
GDF6 growth differentiation factor 6 5.0
KAT6B K(lysine) acetyltransferase 6B 5.0
TBC1D32 TBC1 domain family, member 32 5.0
ZIC2 Zic family member 2 5.0
CLDN19 claudin 19 5.0
C12ORF57 chromosome 12 open reading frame 57 5.0
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 5.0
VSX2 visual system homeobox 2 5.0
SIX3 SIX homeobox 3 5.0
GJA1 gap junction protein, alpha 1, 43kDa 5.0
FOXL2 forkhead box L2 5.0
SMOC1 SPARC related modular calcium binding 1 5.0
PIGL phosphatidylinositol glycan anchor biosynthesis, class L 5.0
TBX22 T-box 22 5.0
FRAS1 Fraser extracellular matrix complex subunit 1 5.0
TMEM98 transmembrane protein 98 5.0
YAP1 Yes-associated protein 1 5.0
TCOF1 Treacher Collins-Franceschetti syndrome 1 5.0
FADD Fas (TNFRSF6)-associated via death domain 5.0
BCOR BCL6 corepressor 5.0
MAB21L2 mab-21-like 2 (C. elegans) 5.0
ERCC1 excision repair cross-complementation group 1 5.0
ERCC5 excision repair cross-complementation group 5 5.0
TMEM67 transmembrane protein 67 5.0
RARB retinoic acid receptor, beta 5.0
SALL4 spalt-like transcription factor 4 5.0
FAM111A family with sequence similarity 111, member A 5.0
LRP2 low density lipoprotein receptor-related protein 2 5.0
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) 5.0
PTCH1 patched 1 5.0
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic) 5.0
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) 5.0
SRD5A3 steroid 5 alpha-reductase 3 5.0
IGBP1 immunoglobulin (CD79A) binding protein 1 5.0
HMGB3 high mobility group box 3 5.0
STRA6 stimulated by retinoic acid 6 5.0
CRYBA4 crystallin, beta A4 5.0
SALL1 spalt-like transcription factor 1 5.0
SALL2 spalt-like transcription factor 2 5.0
CRYBB2 crystallin, beta B2 5.0
OTX2 orthodenticle homeobox 2 5.0
ALDH1A3 aldehyde dehydrogenase 1 family, member A3 5.0
RBP4 retinol binding protein 4, plasma 5.0
POLR1C polymerase (RNA) I polypeptide C, 30kDa 5.0
POLR1D polymerase (RNA) I polypeptide D, 16kDa 5.0
DHX38 DEAH (Asp-Glu-Ala-His) box polypeptide 38 5.0
TENM3 teneurin transmembrane protein 3 5.0
CRYAA crystallin, alpha A 5.0
SCLT1 sodium channel and clathrin linker 1 5.0
GRIP1 glutamate receptor interacting protein 1 5.0
PORCN porcupine homolog (Drosophila) 5.0
RPGRIP1L RPGRIP1-like 5.0
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 5.0
VAX1 ventral anterior homeobox 1 5.0
PRSS56 protease, serine, 56 5.0
FZD5 frizzled class receptor 5 5.0
TBC1D20 TBC1 domain family, member 20 5.0
ACTB actin, beta 5.0
TMX3 thioredoxin-related transmembrane protein 3 5.0
HMX1 H6 family homeobox 1 5.0