hypoplasia of the iris Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Congenital underdevelopment of the iris. (Human Phenotype Ontology, HP_0007676)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007676
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13 genes associated with the hypoplasia of the iris phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
COL4A1 collagen, type IV, alpha 1
ERCC6 excision repair cross-complementation group 6
FBN1 fibrillin 1
FOXC1 forkhead box C1
LAMB2 laminin, beta 2 (laminin S)
LRP2 low density lipoprotein receptor-related protein 2
MITF microphthalmia-associated transcription factor
NDP Norrie disease (pseudoglioma)
PAX3 paired box 3
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX2 paired-like homeodomain 2
SOX10 SRY (sex determining region Y)-box 10
STIM1 stromal interaction molecule 1