Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.700 GeneticVariation disease UNIPROT Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria. 24498303 2014
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.700 GeneticVariation disease UNIPROT Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria. 25288164 2014
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.700 GeneticVariation disease UNIPROT Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria. 24224009 2013
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in ABCB6 cause dyschromatosis universalis hereditaria. 23519333 2013
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.700 GeneticVariation disease UNIPROT Mutations in ABCB6 cause dyschromatosis universalis hereditaria. 23519333 2013
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.700 Biomarker disease GENOMICS_ENGLAND ABCB6 mutations cause ocular coloboma. 22226084 2012
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.700 CausalMutation disease CLINVAR
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.700 Biomarker disease CTD_human