JAM3, junctional adhesion molecule 3, 83700

N. diseases: 66; N. variants: 5
Disease: Congenital cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.020 GeneticVariation disease BEFREE Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. 23255084 2013
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.020 Biomarker disease BEFREE A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. 21109224 2010