Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Familial Partial Lipodystrophy, Type 2
|
0.800 | CausalMutation | CLINVAR | ||||||||
Lethal tight skin contracture syndrome (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Progeria
|
0.700 | CausalMutation | CLINVAR | ||||||||
Charcot-Marie-Tooth disease, Type 2B1
|
0.700 | CausalMutation | CLINVAR | ||||||||
Mandibuloacral dysostosis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Malouf syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
Heart-hand syndrome, Slovenian type
|
0.700 | CausalMutation | CLINVAR | ||||||||
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Emery-Dreifuss Muscular Dystrophy 3
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cardiomyopathy, Familial Idiopathic
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hyperglycemia
|
0.700 | CausalMutation | CLINVAR | Isolation and characterization of catalytic and calmodulin-binding domains of Bordetella pertussis adenylate cyclase. | 2007407 | 1991 | |||||
Monogenic diabetes
|
0.700 | CausalMutation | CLINVAR | Isolation and characterization of catalytic and calmodulin-binding domains of Bordetella pertussis adenylate cyclase. | 2007407 | 1991 | |||||
Familial Partial Lipodystrophy, Type 2
|
0.800 | GeneticVariation | UNIPROT | Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. | 10739751 | 2000 | |||||
Familial Partial Lipodystrophy, Type 2
|
0.800 | GeneticVariation | UNIPROT | LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. | 10655060 | 2000 | |||||
Familial Partial Lipodystrophy, Type 2
|
0.800 | GeneticVariation | UNIPROT | Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. | 10587585 | 2000 | |||||
Hyperglycemia
|
0.700 | CausalMutation | CLINVAR | Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. | 10739751 | 2000 | |||||
Monogenic diabetes
|
0.700 | CausalMutation | CLINVAR | LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. | 10655060 | 2000 | |||||
Monogenic diabetes
|
0.700 | CausalMutation | CLINVAR | Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance. | 10868844 | 2000 | |||||
Hyperglycemia
|
0.700 | CausalMutation | CLINVAR | Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance. | 10868844 | 2000 | |||||
Hyperglycemia
|
0.700 | CausalMutation | CLINVAR | Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. | 10999845 | 2000 | |||||
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 | CausalMutation | CLINVAR | Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. | 10587585 | 2000 | |||||
Monogenic diabetes
|
0.700 | CausalMutation | CLINVAR | Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. | 10999845 | 2000 | |||||
Hyperglycemia
|
0.700 | CausalMutation | CLINVAR | LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. | 10655060 | 2000 | |||||
Monogenic diabetes
|
0.700 | CausalMutation | CLINVAR | Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. | 10739751 | 2000 |