Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.600 GeneticVariation disease UNIPROT Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1. 27467858 2016
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.600 CausalMutation disease CLINVAR Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1. 27467858 2016
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		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: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.600 GeneticVariation disease UNIPROT Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1. 23430823 2011
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.600 GeneticVariation disease CLINVAR Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. 20016754 2008
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.600 GeneticVariation disease UNIPROT Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. 20016754 2008
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.600 CausalMutation disease CLINVAR Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. 20016754 2008
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.600 CausalMutation disease CLINVAR Generalized arterial calcification of infancy: two siblings with prolonged survival. 16315058 2006
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.600 Biomarker disease GENOMICS_ENGLAND The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). 15605415 2005
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.600 GeneticVariation disease UNIPROT The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). 15605415 2005
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.600 CausalMutation disease CLINVAR The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). 15605415 2005
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.600 GeneticVariation disease UNIPROT Generalized arterial calcification of infancy: different clinical courses in two affected siblings. 15940697 2005
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.600 GeneticVariation disease UNIPROT Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. 12881724 2003
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.600 GeneticVariation disease CLINVAR Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. 12881724 2003
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.600 Biomarker disease GENOMICS_ENGLAND