Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57520892
rs57520892
LMNA
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.810 GeneticVariation UNIPROT A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. 16278265

2006
dbSNP: rs57520892
rs57520892
LMNA
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.810 GeneticVariation UNIPROT A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. 15998779

2005
dbSNP: rs57520892
rs57520892
LMNA
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.810 GeneticVariation BEFREE The female patient had no breast development despite normal menstruation, a phenotype different from that seen in women with MAD and Arg527His LMNA mutation. 15998779

2005
dbSNP: rs57520892
rs57520892
LMNA
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.810 GeneticVariation UNIPROT Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. 12075506

2002
dbSNP: rs57520892
rs57520892
LMNA
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		A 0.810 CausalMutation CLINVAR