Gene: PAK1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5058
Gene Symbol: PAK1
PAK1 		0.110 GeneticVariation phenotype BEFREE We report the de novo PAK1 mutations c.392A>G (p.Tyr131Cys) and c.1286A>G (p.Tyr429Cys) in two unrelated subjects with developmental delay, secondary macrocephaly, seizures, and ataxic gait. 30290153 2018
Entrez Id: 5058
Gene Symbol: PAK1
PAK1 		0.110 Biomarker phenotype HPO