ACP1, acid phosphatase 1, 52

N. diseases: 107; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.050 GeneticVariation disease BEFREE Mutations in protein-tyrosine phosphatase, nonreceptor-type 11 (PTPN11), encoding SHP-2, account for 33-50% of NS. 17339163 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.050 Biomarker disease 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.050 GeneticVariation disease 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.050 GeneticVariation disease BEFREE Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. 15240615 2004
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.050 GeneticVariation disease 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