Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1001
Gene Symbol: CDH3
CDH3
0.170 GeneticVariation disease BEFREE New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report. 28061825 2017
Entrez Id: 1001
Gene Symbol: CDH3
CDH3
0.170 GeneticVariation disease BEFREE Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations). 26885695 2016
Entrez Id: 1001
Gene Symbol: CDH3
CDH3
0.170 GeneticVariation disease BEFREE Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy. 20203473 2010
Entrez Id: 1001
Gene Symbol: CDH3
CDH3
0.170 GeneticVariation disease BEFREE A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy. 20140736 2010
Entrez Id: 1001
Gene Symbol: CDH3
CDH3
0.170 GeneticVariation disease BEFREE Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy. 17342797 2007
Entrez Id: 1001
Gene Symbol: CDH3
CDH3
0.170 CausalMutation disease CLINVAR Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy. 14708629 2003
Entrez Id: 1001
Gene Symbol: CDH3
CDH3
0.170 GeneticVariation disease BEFREE Recently, we identified a frameshift mutation in the CDH3 gene encoding P-cadherin as the proximal cause of hypotrichosis with juvenile macular dystrophy in four families. 12445216 2002
Entrez Id: 1001
Gene Symbol: CDH3
CDH3
0.170 GeneticVariation disease BEFREE Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. 11544476 2001