Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.550 Biomarker GENOMICS_ENGLAND This family provides strong evidence that homozygous PRRT2 mutations give rise to more severe clinical disease of mental retardation, episodic ataxia, and absences, and, thus, enlarges the clinical spectrum related to PRRT2 mutations. 23126439

2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.550 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011