Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 52
Gene Symbol: ACP1
ACP1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.050 GeneticVariation BEFREE Mutations in protein-tyrosine phosphatase, nonreceptor-type 11 (PTPN11), encoding SHP-2, account for 33-50% of NS. 17339163

2007
Entrez Id: 52
Gene Symbol: ACP1
ACP1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.050 Biomarker BEFREE Recently, PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) has been identified as a major responsible gene for NS, causing about half of the affected individuals. 16498234

2006
Entrez Id: 52
Gene Symbol: ACP1
ACP1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.050 GeneticVariation BEFREE This review summarizes PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11) mutations and genotype-phenotype correlations in Noonan syndrome (NS) and LEOPARD syndrome (LS). 16208280

2005
Entrez Id: 52
Gene Symbol: ACP1
ACP1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.050 GeneticVariation BEFREE Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. 15240615

2004
Entrez Id: 52
Gene Symbol: ACP1
ACP1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.050 GeneticVariation BEFREE (Nature Genetics, 29:465-468) have recently shown that gain-of-function mutations in the gene PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) cause Noonan syndrome in roughly half of patients that they examined. 12161469

2002