ABCC6, ATP binding cassette subfamily C member 6, 368

N. diseases: 181; N. variants: 320
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3276161
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 		0.600 Biomarker disease GENOMICS_ENGLAND Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. 22209248 2012
CUI: C3276161
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 		0.600 GeneticVariation disease UNIPROT Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. 22209248 2012
CUI: C3276161
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in ABCC6 cause pseudoxanthoma elasticum. 10835643 2000
CUI: C3276161
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3276161
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 		0.600 CausalMutation disease CLINVAR