Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.610 GermlineCausalMutation disease ORPHANET This report is the first to relate p.R198W mutation in GJA8 with CCMC. 20806042 2010
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.610 GeneticVariation disease BEFREE This report is the first to relate p.R198W mutation in GJA8 with CCMC. 20806042 2010
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.610 Biomarker disease GENOMICS_ENGLAND Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 17724170 2007
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.610 GermlineCausalMutation disease ORPHANET Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 17724170 2007
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.610 Biomarker disease CTD_human Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. 16604058 2006
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.610 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.330 GeneticVariation disease BEFREE Congenital microcornea-cataract syndrome-causing mutation X253R increases βB1-crystallin hydrophobicity to promote aggregate formation. 27208166 2016
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.330 GeneticVariation disease BEFREE Recently, an autosomal dominant congenital cataract-microcornea syndrome in a Chinese family has been associated with the S129R mutation in βB1-crystallin. 23159606 2013
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.330 GeneticVariation disease BEFREE 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 		0.330 GermlineCausalMutation disease 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 		0.330 GermlineCausalMutation disease ORPHANET CRYBB1 mutation associated with congenital cataract and microcornea. 16110300 2005
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		0.310 GeneticVariation disease BEFREE We further confirmed our finding by identifying another heterozygous missense mutation, c.2408C>T, in ABCA3 in an additional dominant CCMC family (Family B), which also cosegregated with the phenotype. 25406294 2014
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		0.310 Biomarker disease GENOMICS_ENGLAND We further confirmed our finding by identifying another heterozygous missense mutation, c.2408C>T, in ABCA3 in an additional dominant CCMC family (Family B), which also cosegregated with the phenotype. 25406294 2014
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA 		0.310 GermlineCausalMutation disease ORPHANET Mutational screening of six genes in Chinese patients with congenital cataract and microcornea. 21686328 2011
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA 		0.310 GermlineCausalMutation disease 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 		0.310 GermlineCausalMutation disease ORPHANET Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 17724170 2007
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA 		0.310 GeneticVariation disease BEFREE A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. 16735993 2006
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease ORPHANET Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts. 21402992 2011
Entrez Id: 1413
Gene Symbol: CRYBA4
CRYBA4 		0.300 GermlineCausalMutation disease ORPHANET A missense mutation in CRYBA4 associated with congenital cataract and microcornea. 20577656 2010
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease ORPHANET Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 17724170 2007
Entrez Id: 4094
Gene Symbol: MAF
MAF 		0.300 GermlineCausalMutation disease ORPHANET Novel MAF mutation in a family with congenital cataract-microcornea syndrome. 17982426 2007
Entrez Id: 340273
Gene Symbol: ABCB5
ABCB5 		0.010 GeneticVariation disease BEFREE By sequencing the whole exome of three patients in a Chinese four-generation dominant CCMC family (Family A), three heterozygous missense mutation (c.115C>G, c.277G>A, and c.4393G>A) were identified in ATP-binding cassette protein A3 (ABCA3). 25406294 2014