Disease: MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865286
Disease: MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA
MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA 		0.510 Biomarker disease GENOMICS_ENGLAND Crim1 regulates integrin signaling in murine lens development. 26681494 2016
CUI: C1865286
Disease: MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA
MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA 		0.510 Biomarker disease BEFREE Taken together, these findings identify CRIM1 as the causative gene for MACOM syndrome and emphasize the importance of CRIM1 in eye development. 25561690 2015
CUI: C1865286
Disease: MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA
MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA 		0.510 GermlineCausalMutation disease ORPHANET Taken together, these findings identify CRIM1 as the causative gene for MACOM syndrome and emphasize the importance of CRIM1 in eye development. 25561690 2015