Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8573
Gene Symbol: CASK
CASK
0.120 GeneticVariation disease BEFREE An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy. 30549415 2019
Entrez Id: 8573
Gene Symbol: CASK
CASK
0.120 GeneticVariation disease BEFREE Mutations of the calcium/calmodulin-dependent serine protein kinase (CASK) gene have recently been associated with X-linked mental retardation (XLMR) with microcephaly, optic atrophy and brainstem and cerebellar hypoplasia, as well as with an X-linked syndrome having some FG-like features. 20029458 2010
Entrez Id: 8573
Gene Symbol: CASK
CASK
0.120 Biomarker disease HPO