ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Noonan Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 GeneticVariation disease BEFREE This analysis identified activating SOS1 mutations associated with Noonan syndrome as significantly altered in melanoma and the first kinase-activating mutations in ACVR1 associated with adult tumors. 27304678 2016