Source: ALL

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: 761
Gene Symbol: CA3
CA3 		carbonic anhydrase 3 0.682 0.500 1.7E-03
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		disease 0.010 None 1.000 1 0 2020 2020
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: 1158
Gene Symbol: CKM
CKM 		creatine kinase, M-type 0.743 0.423 7.8E-03
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 143244
Gene Symbol: EIF5AL1
EIF5AL1 		eukaryotic translation initiation factor 5A like 1 0.792 0.308 0.34
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 26287
Gene Symbol: ANKRD2
ANKRD2 		ankyrin repeat domain 2 0.805 0.308 1.5E-08
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		disease 0.010 None 1.000 1 0 2020 2020