RTL1, retrotransposon Gag like 1, 388015

N. diseases: 119; N. variants: 2
Disease: Microphthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.020 AlteredExpression disease BEFREE Accordingly, Axl-positive melanomas did not express microphthalmia transcription factor (MITF) and melanocyte differentiation antigens (MDAs) such as MART-1 and gp100 and possessed a greater in vitro invasive potential compared with Axl-negative ones. 21796150 2011
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.020 AlteredExpression disease BEFREE Lymphangioleiomyomatosis cells coexpress smooth muscle markers (such as smooth muscle actin and desmin) and melanocytic markers (such as HMB-45, Melan-A/MART-1, and microphthalmia transcription factor). 21128782 2010