Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7431
Gene Symbol: VIM
VIM 		0.600 GermlineCausalMutation disease ORPHANET Here, we demonstrate that a mutation in VIM causes a dominant, pulverulent cataract. 19126778 2009
Entrez Id: 7431
Gene Symbol: VIM
VIM 		0.600 Biomarker disease MGD
Entrez Id: 7431
Gene Symbol: VIM
VIM 		0.600 Biomarker disease HPO
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.430 GeneticVariation disease BEFREE The pulverulent cataracts present in members of this family are associated with a novel GJA8 mutation, Cx50D47N, that acts as a loss-of-function mutation. 18006672 2008
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.430 GermlineCausalMutation disease ORPHANET A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. 18006672 2008
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.430 GeneticVariation disease BEFREE The pulverulent cataract described in this family is associated with a novel GJA8 mutation and has a different clinical phenotype from previously described GJA8 mutants. 16397066 2006
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.430 Biomarker disease BEFREE Cx50-knockout lenses also developed zonular pulverulent cataracts, and lens abnormalities were detected by P7. 9813099 1998
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.430 Biomarker disease HPO
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.410 GermlineCausalMutation disease ORPHANET Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula. 22267527 2012
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.410 GeneticVariation disease BEFREE In addition, although a number of genetic causes of autosomal dominant pulverulent cataracts have been identified (including CRYBB1) this is the first gene to have been implicated in autosomal recessive nuclear pulverulent cataract. 19461930 2009
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.410 GermlineCausalMutation disease ORPHANET Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract. 19461930 2009
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.410 GermlineCausalMutation disease ORPHANET A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. 12360425 2002
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.410 Biomarker disease HPO
Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2 		0.310 GeneticVariation disease BEFREE A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities. 24654948 2014
Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2 		0.310 GermlineCausalMutation disease ORPHANET A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities. 24654948 2014
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC 		0.310 GermlineCausalMutation disease ORPHANET A few mutations have been described in the CRYGC gene in autosomal dominant cataract, none of them with pulverulent cataract making clear the clinical heterogeneity of congenital cataract. 23954869 2013
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC 		0.310 GeneticVariation disease BEFREE A CRYGC gene mutation associated with autosomal dominant pulverulent cataract. 23954869 2013
Entrez Id: 2700
Gene Symbol: GJA3
GJA3 		0.310 GermlineCausalMutation disease ORPHANET A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family. 22876138 2012
Entrez Id: 2700
Gene Symbol: GJA3
GJA3 		0.310 GeneticVariation disease BEFREE The present study identified a novel mutation (c.559C>T) in the GJA3 gene associated with autosomal dominant pulverulent cataracts in a Chinese family. 21647269 2011
Entrez Id: 4094
Gene Symbol: MAF
MAF 		0.310 GeneticVariation disease BEFREE Individuals with a mutation in MAF may have pulverulent cataract alone or cataract in association with microcornea or iris coloboma. 12642301 2003
Entrez Id: 4094
Gene Symbol: MAF
MAF 		0.310 GermlineCausalMutation disease ORPHANET Individuals with a mutation in MAF may have pulverulent cataract alone or cataract in association with microcornea or iris coloboma. 12642301 2003
Entrez Id: 4094
Gene Symbol: MAF
MAF 		0.310 GermlineCausalMutation disease ORPHANET Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. 11772997 2002
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC 		0.310 GermlineCausalMutation disease ORPHANET A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. 10914683 2000
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD 		0.300 GermlineCausalMutation disease ORPHANET Novel human CRYGD rare variant in a Brazilian family with congenital cataract. 21866214 2011
Entrez Id: 1415
Gene Symbol: CRYBB2
CRYBB2 		0.300 GermlineCausalMutation disease ORPHANET Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. 10634616 2000