×
Entrez Id:
1414
Gene Symbol:
CRYBB1
CRYBB1
Cataract microcornea syndrome
0.330
GermlineCausalMutation
ORPHANET
CRYBB1 mutation associated with congenital cataract and microcornea.
16110300
2005
×
Entrez Id:
2703
Gene Symbol:
GJA8
GJA8
Cataract microcornea syndrome
0.610
GermlineCausalMutation
ORPHANET
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
17724170
2007
×
Entrez Id:
1409
Gene Symbol:
CRYAA
CRYAA
Cataract microcornea syndrome
0.310
GermlineCausalMutation
ORPHANET
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
17724170
2007
×
Entrez Id:
1421
Gene Symbol:
CRYGD
CRYGD
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
Cataract microcornea syndrome
0.300
GermlineCausalMutation
ORPHANET
Novel MAF mutation in a family with congenital cataract-microcornea syndrome.
17982426
2007
×
Entrez Id:
1420
Gene Symbol:
CRYGC
CRYGC
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:
2703
Gene Symbol:
GJA8
GJA8
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:
1413
Gene Symbol:
CRYBA4
CRYBA4
Cataract microcornea syndrome
0.300
GermlineCausalMutation
ORPHANET
A missense mutation in CRYBA4 associated with congenital cataract and microcornea.
20577656
2010
×
Entrez Id:
1414
Gene Symbol:
CRYBB1
CRYBB1
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:
1409
Gene Symbol:
CRYAA
CRYAA
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
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:
1415
Gene Symbol:
CRYBB2
CRYBB2
Cataract microcornea syndrome
0.300
GermlineCausalMutation
ORPHANET
Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts.
21402992
2011
×
Entrez Id:
1420
Gene Symbol:
CRYGC
CRYGC
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