Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.570 Biomarker CLINGEN Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. 21063443

2011