Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.300 GermlineCausalMutation disease ORPHANET A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family. 24405844 2014
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.300 GermlineCausalMutation disease ORPHANET A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family. 20361015 2010
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
0.300 GermlineCausalMutation disease ORPHANET "A mutation in GJA8 (p.P88Q) is associated with ""balloon-like"" cataract with Y-sutural opacities in a family of Indian origin." 18587493 2008
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
0.300 GermlineCausalMutation disease ORPHANET Crystallin gene mutations in Indian families with inherited pediatric cataract. 18587492 2008
Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2
0.300 GermlineCausalMutation disease ORPHANET Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family. 17200662 2006
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
0.300 GermlineCausalMutation disease ORPHANET Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. 16141006 2005
Entrez Id: 1415
Gene Symbol: CRYBB2
CRYBB2
0.300 GermlineCausalMutation disease ORPHANET A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. 11424921 2001
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
0.300 GermlineCausalMutation disease ORPHANET Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. 9788845 1998