Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy
0.750 GeneticVariation disease BEFREE Our results suggest that neither ANKH nor ENPP1 mutations are the cause of CC in these families, indicating that possibly other major genes are involved in the aethiopathogenesis of this condition in these families. 21811784 2012
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy
0.750 GermlineCausalMutation disease ORPHANET Pathophysiology of articular chondrocalcinosis--role of ANKH. 21102543 2011
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy
0.750 GeneticVariation disease BEFREE Mutations in ANK result in two distinct calcification disorders: craniometaphyseal dysplasia and familial calcium pyrophosphate dihydrate deposition disease. 16462526 2006
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy
0.750 Biomarker disease BEFREE The ANKH gene and familial calcium pyrophosphate dihydrate deposition disease. 15474385 2004
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy
0.750 GeneticVariation disease UNIPROT Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. 13130483 2003
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy
0.750 Biomarker disease BEFREE A discussion of ANKH as the familial calcium pyrophosphate dihydrate deposition disease gene is presented. 12707589 2003
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy
0.750 GeneticVariation disease UNIPROT Mutations in ANKH cause chondrocalcinosis. 12297987 2002
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy
0.750 GeneticVariation disease UNIPROT Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. 12297989 2002
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy
0.750 GeneticVariation disease BEFREE Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. 12297989 2002
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy
0.750 Biomarker disease GENOMICS_ENGLAND Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. 9915952 1999
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy
0.750 CausalMutation disease CLINVAR
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy
0.750 Biomarker disease CTD_human