DIAPH2, diaphanous related formin 2, 1730

N. diseases: 37; N. variants: 1
Disease: Desmoplastic infantile ganglioglioma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1321878
Disease: Desmoplastic infantile ganglioglioma
Desmoplastic infantile ganglioglioma 		0.010 Biomarker disease BEFREE MAPK pathway activation has been recurrently observed in desmoplastic infantile ganglioglioma/astrocytoma (DIG/DIA) with reported disproportionally low mutation allele frequencies relative to the apparent high tumor content, suggesting that MAPK pathway alterations may be subclonal. 31562743 2019