MIA2, MIA SH3 domain ER export factor 2, 4253

N. diseases: 30; N. variants: 5
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 GeneticVariation disease BEFREE These findings define an interaction between the common MIA2(I141M) variant and the ER stress/UPR system and specify a subgroup of PDAC patients who are more likely to benefit from adjuvant chemotherapy. 25657029 2015