Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker GENOMICS_ENGLAND Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. 22452838

2012