Warburg Sjo Fledelius syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. (Human Disease Ontology, DOID_0060237)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C536681
Similar Terms
Downloads & Tools

Genes

1 genes/proteins associated with the disease Warburg Sjo Fledelius syndrome from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) 2.88009