Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 2700
Gene Symbol: GJA3
GJA3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 2700
Gene Symbol: GJA3
GJA3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 1415
Gene Symbol: CRYBB2
CRYBB2
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 1415
Gene Symbol: CRYBB2
CRYBB2
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 CausalMutation CLINVAR

Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.380 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.360 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.350 CausalMutation CLINVAR

Entrez Id: 4094
Gene Symbol: MAF
MAF
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.320 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 3982
Gene Symbol: LIM2
LIM2
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.320 CausalMutation CLINVAR

Entrez Id: 7431
Gene Symbol: VIM
VIM
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.310 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.200 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.170 GeneticVariation CLINVAR

Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.170 CausalMutation CLINVAR

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.160 CausalMutation CLINVAR Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. 29178648

2017
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.160 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.160 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 4810
Gene Symbol: NHS
NHS
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.150 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 1417
Gene Symbol: CRYBB3
CRYBB3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.120 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 1417
Gene Symbol: CRYBB3
CRYBB3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.120 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016