LIM2, lens intrinsic membrane protein 2, 3982

N. diseases: 23; N. variants: 3
Disease: Cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086543
Disease: Cataract
Cataract 		0.420 Biomarker disease LHGDN A missense mutation, Gly154Glu, was found in LIM2 in one family with four individuals diagnosed with autosomal recessive cataract from two generations. 18596884 2008
CUI: C0086543
Disease: Cataract
Cataract 		0.420 GeneticVariation disease BEFREE A missense mutation, Gly154Glu, was found in LIM2 in one family with four individuals diagnosed with autosomal recessive cataract from two generations. 18596884 2008
CUI: C0086543
Disease: Cataract
Cataract 		0.420 GeneticVariation disease BEFREE To our knowledge, this constitutes the first report, in humans, of cataract formation associated with a mutation in LIM2. 11917274 2002
CUI: C0086543
Disease: Cataract
Cataract 		0.420 Biomarker disease CTD_human To our knowledge, this constitutes the first report, in humans, of cataract formation associated with a mutation in LIM2. 11917274 2002
CUI: C0086543
Disease: Cataract
Cataract 		0.420 CausalMutation disease CLINVAR