Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151340632
rs151340632
ATP7A ; PGK1
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.810 GeneticVariation UNIPROT The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression. 21667063

2012
dbSNP: rs151340632
rs151340632
ATP7A ; PGK1
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.810 GeneticVariation UNIPROT Clinical utility gene card for: Menkes disease. 21487442

2011
dbSNP: rs151340632
rs151340632
ATP7A ; PGK1
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.810 GeneticVariation UNIPROT We studied two brothers with typical occipital horn syndrome and used yeast complementation and timed growth assays, exploiting a Saccharomyces cerevisiae mutant strain, to assess in vitro N1304S copper transport. 17108763

2006
dbSNP: rs151340632
rs151340632
ATP7A ; PGK1
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.810 GeneticVariation UNIPROT A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. 11431706

2001
dbSNP: rs151340632
rs151340632
ATP7A ; PGK1
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.810 GeneticVariation UNIPROT A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. 9246006

1997
dbSNP: rs151340632
rs151340632
ATP7A ; PGK1
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		G 0.810 CausalMutation CLINVAR