Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22884
Gene Symbol: WDR37
WDR37 		0.300 Biomarker disease GENOMICS_ENGLAND De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. 31327508 2019
Entrez Id: 11081
Gene Symbol: KERA
KERA 		0.200 Biomarker disease MGD Keratocan and lumican regulate neutrophil infiltration and corneal clarity in lipopolysaccharide-induced keratitis by direct interaction with CXCL1. 17911102 2007
Entrez Id: 11081
Gene Symbol: KERA
KERA 		0.200 Biomarker disease MGD Keratocan-deficient mice display alterations in corneal structure. 12665512 2003
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.150 GeneticVariation disease BEFREE This work provides molecular insights to understand the cataract and microphthalmia/microcornea phenotype caused by Gja8 mutations in mice and humans. 23300808 2012
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.150 GeneticVariation disease BEFREE Mutations in GJA8 and CRYAA were identified in three families with cataract and microcornea. 21686328 2011
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.150 GeneticVariation disease BEFREE The result expands the mutation spectrum of GJA8 in associated with congenital cataract and microcornea, and implies that this gene has direct involvement with the development of the lens as well as the other anterior segment of the eye. 20806042 2010
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.150 GeneticVariation disease BEFREE These findings further expand the mutation spectrum of connexin 50 (Cx50) in association with congenital cataract and microcornea. 18334946 2008
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.150 GeneticVariation disease BEFREE This is the first report of mutations in GJA8 to be associated with autosomal dominant cataract and microcornea. 16604058 2006
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.150 Biomarker disease HPO
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.150 CausalMutation disease CLINVAR
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		0.120 GeneticVariation disease BEFREE 164200) is a rare hereditary disorder caused by mutations in the gene GJA1.Ocular disorders included microcornea, cornea opacity and glaucoma. 30767687 2019
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		0.120 GeneticVariation disease BEFREE A novel truncation mutation in GJA1 is associated with OAG and microcornea in a Chinese family. 25976645 2015
Entrez Id: 170692
Gene Symbol: ADAMTS18
ADAMTS18 		0.120 Biomarker disease BEFREE Physicians should consider screening ADAMTS18 in patients with microcornea and cone-rod dystrophy. 24874986 2014
Entrez Id: 170692
Gene Symbol: ADAMTS18
ADAMTS18 		0.120 GeneticVariation disease BEFREE Our data suggest that ADAMTS18 plays an essential role in early eye development and that mutations therein cause a distinct eye phenotype that is mainly characterized by microcornea and myopia. 23818446 2013
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA 		0.120 GeneticVariation disease BEFREE The c.61C>T (p.R21W) mutation in CRYAA has been previously reported in a family with congenital cataract and microcornea. 23441109 2013
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA 		0.120 GeneticVariation disease BEFREE Mutations in GJA8 and CRYAA were identified in three families with cataract and microcornea. 21686328 2011
Entrez Id: 170692
Gene Symbol: ADAMTS18
ADAMTS18 		0.120 Biomarker disease HPO
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA 		0.120 Biomarker disease HPO
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		0.120 Biomarker disease HPO
Entrez Id: 1415
Gene Symbol: CRYBB2
CRYBB2 		0.110 Biomarker disease BEFREE The CRYBB2 gene was shown to be another causative gene associated with congenital cataract and microcornea. 21402992 2011
Entrez Id: 1413
Gene Symbol: CRYBA4
CRYBA4 		0.110 Biomarker disease BEFREE It expands the mutation spectrum of CRYBA4 and provides useful information to the study of molecular pathogenesis of cataract and microcornea. 20577656 2010
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.110 GeneticVariation disease BEFREE A 10-year-old girl with unusual ocular manifestations of BOFS such as elliptical shaped microcornea and a novel de novo TFAP2A mutation was identified. 20461149 2010
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC 		0.110 GeneticVariation disease BEFREE The present study has identified a novel nonsense mutation in CRYGC associated with autosomal dominant cataracts and microcornea in a Chinese family. 19204787 2009
Entrez Id: 387700
Gene Symbol: SLC16A12
SLC16A12 		0.110 GeneticVariation disease BEFREE Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. 18304496 2008
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.110 GeneticVariation disease BEFREE CRYBB1 mutation associated with congenital cataract and microcornea. 16110300 2005