MDH2, malate dehydrogenase 2, 4191

N. diseases: 111; N. variants: 5
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. 25766404 2015