Gillespie syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
GILLESPIE SYNDROME
206700C0431401
ITPR1 Causal
27108797 27108798 28698159 30249237 31340402 33747042 33949769 37705153
ClinVar, Disgenet, HPO
Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system +53 more
PAX6 Unknown
24859618 12721955
Disgenet
All2 Causal1 Unknown1
Related Diseases Diseases that share the most curated genes with Gillespie syndrome.
5 View disease cluster →
Aniridia-cerebellar ataxia-intellectual disability syndrome 2 shared genesITPR1, PAX6 Related via 2 shared genes including ITPR1, PAX6. Bilateral congenital mydriasis 1 shared geneITPR1 Related via 1 shared gene including ITPR1. spinocerebellar ataxia type 29 1 shared geneITPR1 Related via 1 shared gene including ITPR1. Cataract-corneal dystrophy syndrome 1 shared genePAX6 Related via 1 shared gene including PAX6. PAX6-related ocular dysgenesis 1 shared genePAX6 Related via 1 shared gene including PAX6.