DSC3, desmocollin 3, 1825

N. diseases: 103; N. variants: 1
Disease: Hypotrichosis And Recurrent Skin Vesicles ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751292
Disease: Hypotrichosis And Recurrent Skin Vesicles
Hypotrichosis And Recurrent Skin Vesicles 		0.710 GeneticVariation disease BEFREE A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. 19765682 2009
CUI: C2751292
Disease: Hypotrichosis And Recurrent Skin Vesicles
Hypotrichosis And Recurrent Skin Vesicles 		0.710 Biomarker disease GENOMICS_ENGLAND A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. 19765682 2009
CUI: C2751292
Disease: Hypotrichosis And Recurrent Skin Vesicles
Hypotrichosis And Recurrent Skin Vesicles 		0.710 GermlineCausalMutation disease ORPHANET A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. 19765682 2009
CUI: C2751292
Disease: Hypotrichosis And Recurrent Skin Vesicles
Hypotrichosis And Recurrent Skin Vesicles 		0.710 Biomarker disease CTD_human
CUI: C2751292
Disease: Hypotrichosis And Recurrent Skin Vesicles
Hypotrichosis And Recurrent Skin Vesicles 		0.710 CausalMutation disease CLINVAR