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: 26092
Gene Symbol: TOR1AIP1
TOR1AIP1
torsin 1A interacting protein 1 0.729 0.346 1.3E-09
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6445
Gene Symbol: SGCG
SGCG
sarcoglycan gamma 0.621 0.615 4.8E-05
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.020 None 0.500 2 0 2000 2017
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
calpain 3 0.564 0.615 3.6E-19
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.030 None 0.667 3 0 2000 2012
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.030 None 1.000 3 0 2008 2017
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
dysferlin 0.582 0.692 3.7E-33
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.200 None 1.000 92 59 1998 2020