EPHA2, EPH receptor A2, 1969

N. diseases: 187; N. variants: 10
Disease: LEOPARD Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.310 GeneticVariation disease BEFREE Overexpression of either Shp2Thr468Met (a phosphatase-defective mutant found in Lentigines, Electrocardiographic abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth and sensorineural Deafness (LEOPARD) syndrome) or Shp2Asn308Asp (a phosphatase-active mutant found in Noonan syndrome) with EphA2 exhibited comparable activation of Erk and stronger activation than wild-type Shp2, suggesting the phosphatase-independent Erk activation. 23318428 2013
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.310 Biomarker disease CTD_human Regulation of apoptosis in HL-1 cardiomyocytes by phosphorylation of the receptor tyrosine kinase EphA2 and protection by lithocholic acid. 22845314 2012