ABCC6, ATP binding cassette subfamily C member 6, 368

N. diseases: 181; N. variants: 320
Disease: Abnormality of the eye ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation phenotype CLINVAR ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum. 12673275 2003
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 CausalMutation phenotype CLINVAR A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. 11536079 2001