LIM2, lens intrinsic membrane protein 2, 3982

N. diseases: 23; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913555
rs121913555
Entrez Id: 3982
Gene Symbol: LIM2
LIM2
CUI: C3809004
Disease:
CATARACT 19, MULTIPLE TYPES
0.800 GeneticVariation UNIPROT A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. 11917274 2002
dbSNP: rs121913555
rs121913555
Entrez Id: 3982
Gene Symbol: LIM2
LIM2
CUI: C3809004
Disease:
CATARACT 19, MULTIPLE TYPES
C 0.800 CausalMutation CLINVAR
dbSNP: rs1568480054
rs1568480054
Entrez Id: 3982
Gene Symbol: LIM2
LIM2
CUI: C0086543
Disease:
Cataract
A 0.700 CausalMutation CLINVAR
dbSNP: rs1568480054
rs1568480054
Entrez Id: 3982
Gene Symbol: LIM2
LIM2
CUI: C0009691
Disease:
Congenital cataract
A 0.700 CausalMutation CLINVAR
dbSNP: rs869312732
rs869312732
Entrez Id: 3982
Gene Symbol: LIM2
LIM2
CUI: C3809004
Disease:
CATARACT 19, MULTIPLE TYPES
T 0.700 CausalMutation CLINVAR