Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32
Limb-girdle muscular dystrophy type 2H
1.000 CausalMutation CLINVAR Thus, one potential mechanism of LGMD2H might be destabilization of mutated TRIM32 protein leading to a null phenotype. 21775502

2011

Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32
Limb-girdle muscular dystrophy type 2H
1.000 CausalMutation CLINVAR Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. 15786463

2005

Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32
Limb-girdle muscular dystrophy type 2H
1.000 CausalMutation CLINVAR On the basis of our results, the mutation in the tripartite-motif-containing gene (TRIM32) that replaces aspartate with asparagine at position 487 appears to be the causative mutation of LGMD2H. 11822024

2002

Entrez Id: 23245
Gene Symbol: ASTN2
ASTN2
Limb-girdle muscular dystrophy type 2H
0.100 CausalMutation CLINVAR The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype. 21775502

2011

Entrez Id: 23245
Gene Symbol: ASTN2
ASTN2
Limb-girdle muscular dystrophy type 2H
0.100 CausalMutation CLINVAR Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. 15786463

2005

Entrez Id: 23245
Gene Symbol: ASTN2
ASTN2
Limb-girdle muscular dystrophy type 2H
0.100 CausalMutation CLINVAR Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. 11822024

2002