coloboma Gene Set

Dataset	GeneRIF Biological Term Annotations
Category	structural or functional annotations
Type	biological term
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

14 genes co-occuring with the biological term coloboma in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol	Name
ABCB6	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
C12ORF57	chromosome 12 open reading frame 57
CHD7	chromodomain helicase DNA binding protein 7
CRYAA	crystallin, alpha A
LCA5	Leber congenital amaurosis 5
OTX2	orthodenticle homeobox 2
PAX2	paired box 2
PAX6	paired box 6
PUF60	poly-U binding splicing factor 60KDa
RAX	retina and anterior neural fold homeobox
SALL2	spalt-like transcription factor 2
SCRIB	scribbled planar cell polarity protein
SOX2	SRY (sex determining region Y)-box 2
TMX3	thioredoxin-related transmembrane protein 3