rs72653706, ABCC6

N. diseases: 32
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nevus elasticus
CUI: C0473583
Disease: Nevus elasticus
0.040 GeneticVariation BEFREE Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes. 23675997 2014
Nevus elasticus
CUI: C0473583
Disease: Nevus elasticus
0.040 GeneticVariation BEFREE Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype. 15837081 2005
Nevus elasticus
CUI: C0473583
Disease: Nevus elasticus
0.040 GeneticVariation BEFREE Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients. 14631379 2004
Nevus elasticus
CUI: C0473583
Disease: Nevus elasticus
0.040 GeneticVariation BEFREE Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum. 12714611 2003