PHACTR1, phosphatase and actin regulator 1, 221692

N. diseases: 59; N. variants: 28
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 GeneticVariation group BEFREE (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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group GENOMICS_ENGLAND Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. 27457812 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group GENOMICS_ENGLAND Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017