CRYAA, crystallin alpha A, 1409

N. diseases: 40; N. variants: 18
Disease: Microcornea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266544
Disease: Microcornea
Microcornea 		0.120 GeneticVariation disease BEFREE The c.61C>T (p.R21W) mutation in CRYAA has been previously reported in a family with congenital cataract and microcornea. 23441109 2013
CUI: C0266544
Disease: Microcornea
Microcornea 		0.120 GeneticVariation disease BEFREE Mutations in GJA8 and CRYAA were identified in three families with cataract and microcornea. 21686328 2011
CUI: C0266544
Disease: Microcornea
Microcornea 		0.120 Biomarker disease HPO