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: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.200 None 1.000 92 59 1998 2020
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: 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: 633
Gene Symbol: BGN
BGN
biglycan 0.484 0.808 0.45
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 1634
Gene Symbol: DCN
DCN
decorin 0.457 0.808 0.31
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 213
Gene Symbol: ALB
ALB
albumin 0.317 0.962 0.64
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2006 2006
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: 361
Gene Symbol: AQP4
AQP4
aquaporin 4 0.456 0.885 2.3E-03
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
SMAD family member 3 0.415 0.923 0.80
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
anoctamin 5 0.619 0.538 2.9E-22
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 115908
Gene Symbol: CTHRC1
CTHRC1
collagen triple helix repeat containing 1 0.556 0.692 2.7E-05
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
fukutin 0.511 0.692 8.7E-07
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
sphingomyelin phosphodiesterase 1 0.499 0.885 3.9E-10
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 84676
Gene Symbol: TRIM63
TRIM63
tripartite motif containing 63 0.617 0.538 4.3E-13
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
thrombospondin 1 0.407 0.885 1.00
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5920
Gene Symbol: PLAAT4
PLAAT4
phospholipase A and acyltransferase 4 0.500 0.808 1.2E-07
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4478
Gene Symbol: MSN
MSN
moesin 0.534 0.769 1.00
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 302
Gene Symbol: ANXA2
ANXA2
annexin A2 0.453 0.808 9.8E-05
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7180
Gene Symbol: CRISP2
CRISP2
cysteine rich secretory protein 2 0.512 0.769 1.4E-12
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2017 2017
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: 203074
Gene Symbol: PRSS55
PRSS55
serine protease 55 0.513 0.769 3.2E-11
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 84654
Gene Symbol: SPZ1
SPZ1
spermatogenic leucine zipper 1 0.507 0.769
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
calpain 1 0.539 0.808 5.9E-10
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2019 2019
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: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
disease 0.010 None 1.000 1 0 2020 2020