Source: CLINVAR

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: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		disease 1.000 None 0.992 74 139 1989 2019
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C1847532
Disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET 		disease 0.710 None 1.000 0 10 2009 2019
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C1850808
Disease: Miyoshi myopathy
Miyoshi myopathy 		disease 0.500 None 0.972 1 18 1996 2019
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.400 None 0.962 0 5 1996 2019
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 59 57 1998 2020
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		disease 0.100 None 0 1
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		phenotype 0.100 None 0 1
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		phenotype 0.100 None 0 1
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		phenotype 0.100 None 0 1
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C1389118
Disease: Peroneal muscle atrophy
Peroneal muscle atrophy 		disease 0.100 None 0 1
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C0560346
Disease: Difficulty running
Difficulty running 		phenotype 0.100 None 0 1
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		phenotype 0.100 None 0 1
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		phenotype 0.100 None 0 1
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		phenotype 0.100 None 0 4
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 5
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		phenotype 0.100 None 0 1
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		phenotype 0.100 None 0 3
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C4022631
Disease: Absent muscle fiber dysferlin
Absent muscle fiber dysferlin 		phenotype 0.100 None 0 1