LIM2, lens intrinsic membrane protein 2, 3982

N. diseases: 23; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809004
Disease: CATARACT 19, MULTIPLE TYPES
CATARACT 19, MULTIPLE TYPES
0.900 GeneticVariation disease UNIPROT A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. 11917274 2002
CUI: C3809004
Disease: CATARACT 19, MULTIPLE TYPES
CATARACT 19, MULTIPLE TYPES
0.900 Biomarker disease MGD Identification of a mutation in the MP19 gene, Lim2, in the cataractous mouse mutant To3. 9238094 1997
CUI: C3809004
Disease: CATARACT 19, MULTIPLE TYPES
CATARACT 19, MULTIPLE TYPES
0.900 Biomarker disease MGD Two new cataract loci, Ccw and To3, and further mapping of the Npp and Opj cataracts in the mouse. 8812411 1996
CUI: C3809004
Disease: CATARACT 19, MULTIPLE TYPES
CATARACT 19, MULTIPLE TYPES
0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3809004
Disease: CATARACT 19, MULTIPLE TYPES
CATARACT 19, MULTIPLE TYPES
0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3809004
Disease: CATARACT 19, MULTIPLE TYPES
CATARACT 19, MULTIPLE TYPES
0.900 CausalMutation disease CLINVAR
CUI: C3809004
Disease: CATARACT 19, MULTIPLE TYPES
CATARACT 19, MULTIPLE TYPES
0.900 Biomarker disease CTD_human
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
CUI: C4021568
Disease: Cortical pulverulent cataract
Cortical pulverulent cataract
0.400 Biomarker disease HPO
CUI: C4021568
Disease: Cortical pulverulent cataract
Cortical pulverulent cataract
0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
0.320 GeneticVariation disease BEFREE A novel missense mutation in LIM2 is responsible for autosomal recessive congenital cataracts. 27814360 2016
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
0.320 Biomarker disease BEFREE This study shows the involvement of LIM2 in human congenital cataract. 18596884 2008
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
0.320 Biomarker disease MGD Identification of a mutation in the MP19 gene, Lim2, in the cataractous mouse mutant To3. 9238094 1997
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
0.320 Biomarker disease MGD Two new cataract loci, Ccw and To3, and further mapping of the Npp and Opj cataracts in the mouse. 8812411 1996
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
0.320 CausalMutation disease CLINVAR
Respiratory Distress Syndrome, Adult
0.300 Biomarker disease CTD_human MicroRNA and mRNA expression profiling in rat acute respiratory distress syndrome. 25070658 2014
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract
0.300 GermlineCausalMutation disease ORPHANET A missense mutation in LIM2 causes autosomal recessive congenital cataract. 18596884 2008
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia
0.300 Biomarker disease CTD_human A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. 11917274 2002
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
0.300 Biomarker phenotype CTD_human A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. 11917274 2002
CUI: C0029531
Disease: Other cataract
Other cataract
0.200 Biomarker disease MGD Microphakia and congenital cataract formation in a novel Lim2(C51R) mutant mouse. 21617753 2011
CUI: C0002418
Disease: Amblyopia
Amblyopia
0.100 Biomarker phenotype HPO