Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
sarcoglycan alpha 0.592 0.654 2.7E-03
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
group 0.500 strong 1.000 0 0 1995 2020
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
calpain 3 0.564 0.615 3.6E-19
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
group 0.400 strong 0.986 0 0 1993 2020
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
dysferlin 0.582 0.692 3.7E-33
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
group 0.400 strong 0.962 0 0 1996 2019
Entrez Id: 1605
Gene Symbol: DAG1
DAG1
dystroglycan 1 0.498 0.808 0.98
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
group 0.500 strong 0.952 1 0 1996 2018
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
sarcoglycan delta 0.641 0.615 2.1E-03
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
group 0.400 strong 0.895 0 0 1996 2019
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
group 0.340 strong 0.750 0 0 2007 2012