Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.610 GermlineCausalMutation ORPHANET This report is the first to relate p.R198W mutation in GJA8 with CCMC. 20806042

2010
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.610 GermlineCausalMutation ORPHANET Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 17724170

2007
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.330 GermlineCausalMutation ORPHANET A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer. 21972112

2011
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.330 GermlineCausalMutation ORPHANET CRYBB1 mutation associated with congenital cataract and microcornea. 16110300

2005
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.310 GermlineCausalMutation ORPHANET Mutational screening of six genes in Chinese patients with congenital cataract and microcornea. 21686328

2011
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.310 GermlineCausalMutation ORPHANET [CRYAA gene mutation study in a family with autosomal dominant congenital cataract combined with microcornea]. 21612679

2011
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.310 GermlineCausalMutation ORPHANET Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 17724170

2007
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.300 GermlineCausalMutation ORPHANET A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. 22876111

2012
Entrez Id: 1415
Gene Symbol: CRYBB2
CRYBB2
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.300 GermlineCausalMutation ORPHANET Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts. 21402992

2011
Entrez Id: 1413
Gene Symbol: CRYBA4
CRYBA4
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.300 GermlineCausalMutation ORPHANET A missense mutation in CRYBA4 associated with congenital cataract and microcornea. 20577656

2010
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.300 GermlineCausalMutation ORPHANET A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea. 19204787

2009
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.300 GermlineCausalMutation ORPHANET Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 17724170

2007
Entrez Id: 4094
Gene Symbol: MAF
MAF
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.300 GermlineCausalMutation ORPHANET Novel MAF mutation in a family with congenital cataract-microcornea syndrome. 17982426

2007