Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathies
1.000 GermlineCausalMutation ORPHANET Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster. 21856579

2011

Entrez Id: 6442
Gene Symbol: SGCA
SGCA
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathies
1.000 GermlineCausalMutation ORPHANET alpha-Sarcoglycan deficiency results in a severe form of muscular dystrophy (limb-girdle muscular dystrophy type 2D [LGMD2D]) without treatment. 19798725

2009