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 |
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 |
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 |
CATARACT 19, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CATARACT 19, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CATARACT 19, MULTIPLE TYPES
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CATARACT 19, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
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 |
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 |
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 |
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 |
Cataract
|
0.420 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Cortical pulverulent cataract
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Cortical pulverulent cataract
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Congenital cataract
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
A novel missense mutation in LIM2 is responsible for autosomal recessive congenital cataracts.
|
27814360 |
2016 |
Congenital cataract
|
0.320 |
Biomarker
|
disease |
BEFREE |
This study shows the involvement of LIM2 in human congenital cataract.
|
18596884 |
2008 |
Congenital cataract
|
0.320 |
Biomarker
|
disease |
MGD |
Identification of a mutation in the MP19 gene, Lim2, in the cataractous mouse mutant To3.
|
9238094 |
1997 |
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 |
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 |
Congenital total cataract
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
A missense mutation in LIM2 causes autosomal recessive congenital cataract.
|
18596884 |
2008 |
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 |
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 |
Other cataract
|
0.200 |
Biomarker
|
disease |
MGD |
Microphakia and congenital cataract formation in a novel Lim2(C51R) mutant mouse.
|
21617753 |
2011 |
Amblyopia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|