ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Disease: Adrenal Gland Pheochromocytoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.030 GeneticVariation disease BEFREE In conclusion, somatic variants affecting ATRX may play a driver role in sporadic PCC/PGL. 27209355 2016
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.030 GeneticVariation disease BEFREE Also, GDNF, H-ras, K-ras, GNAS, CDKN2A (p16), p53, BAP1, BRCA1&2, ATRX and KMT2D mutations have roles in the development of PCC/PGLs. 26839173 2016
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.030 GeneticVariation disease BEFREE Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas. 25608029 2015