SLC25A3, solute carrier family 25 member 3, 5250

N. diseases: 112; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.040 Biomarker disease BEFREE Shp2 is a classical non-receptor protein tyrosine phosphatase (PTP) involved in many human diseases such as Noonan syndrome and tumors, and identified as a potential therapeutic target. 27939989 2017
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.040 Biomarker disease BEFREE SHP2 (Src homology 2 domain-containing protein tyrosine phosphatase 2; PTPN11) is a ubiquitous multidomain, nonreceptor protein tyrosine phosphatase (PTP) that plays an important role in diseases such as cancer, diabetes, and Noonan syndrome (NS). 29214238 2017
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.040 Biomarker disease BEFREE Activating mutations in PTPN11 (encoding SHP2), a protein tyrosine phosphatase (PTP) that plays an overall positive role in growth factor and cytokine signaling, are directly associated with the pathogenesis of Noonan syndrome and childhood leukemias. 23825065 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.040 GeneticVariation disease BEFREE Recently, missense mutations of PTPN11, the gene encoding protein tyrosine phosphatase (PTP) SHP-2, were identified in patients with NS. 15834506 2005