Gene: PHACTR1 ×
Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1 		0.410 GermlineCausalMutation disease ORPHANET (Asn479Ile)] in PHACTR1, encoding a molecule critical for the regulation of protein phosphatase 1 (PP1) and the actin cytoskeleton, in unrelated Japanese individuals with West syndrome (infantile spasms with intellectual disability). 30256902 2018