Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.330 Biomarker GENOMICS_ENGLAND Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. 26337637

2016

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.330 Biomarker GENOMICS_ENGLAND PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. 25884655

2015