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: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.500 None 0.969 229 5 1988 2020
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		laminin subunit alpha 2 0.553 0.692 2.4E-47
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.500 None 1.000 36 1 1998 2019
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		fukutin 0.511 0.692 8.7E-07
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.500 None 1.000 12 0 1999 2018
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.480 None 1.000 9 0 2002 2019
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		selenoprotein N 0.575 0.692 9.8E-10
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.480 None 1.000 9 0 2002 2019
Entrez Id: 1605
Gene Symbol: DAG1
DAG1 		dystroglycan 1 0.498 0.808 0.98
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.400 None 0.973 75 0 2002 2020
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 52 5 1996 2019
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.400 None 1.000 25 1 2003 2018
Entrez Id: 6442
Gene Symbol: SGCA
SGCA 		sarcoglycan alpha 0.592 0.654 2.7E-03
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.400 None 1.000 21 2 1993 2011
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		anoctamin 5 0.619 0.538 2.9E-22
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.400 None 0.944 18 2 2010 2019
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		calpain 3 0.564 0.615 3.6E-19
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.400 None 1.000 16 4 1997 2019
Entrez Id: 6445
Gene Symbol: SGCG
SGCG 		sarcoglycan gamma 0.621 0.615 4.8E-05
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.400 None 1.000 13 0 1995 2010
Entrez Id: 6444
Gene Symbol: SGCD
SGCD 		sarcoglycan delta 0.641 0.615 2.1E-03
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.360 None 1.000 8 0 1996 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.360 None 1.000 7 3 1994 2019
Entrez Id: 6443
Gene Symbol: SGCB
SGCB 		sarcoglycan beta 0.656 0.346 9.6E-07
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.340 None 1.000 5 0 1995 2000
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32 		tripartite motif containing 32 0.587 0.769 1.7E-03
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.330 None 1.000 5 0 2008 2019
Entrez Id: 8557
Gene Symbol: TCAP
TCAP 		titin-cap 0.682 0.538 0.19
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.310 None 1.000 2 0 2010 2011
Entrez Id: 145270
Gene Symbol: PRIMA1
PRIMA1 		proline rich membrane anchor 1 0.595 0.615 0.63
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.310 None 1.000 1 0 2013 2013
Entrez Id: 43
Gene Symbol: ACHE
ACHE 		acetylcholinesterase (Cartwright blood group) 0.445 0.885 1.00
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		butyrylcholinesterase 0.447 0.923 1.1E-13
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.230 None 1.000 6 0 1996 2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.200 None 1.000 36 17 2000 2020
Entrez Id: 5339
Gene Symbol: PLEC
PLEC 		plectin 0.523 0.808 8.3E-12
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.200 None 1.000 30 0 1996 2019
Entrez Id: 84676
Gene Symbol: TRIM63
TRIM63 		tripartite motif containing 63 0.617 0.538 4.3E-13
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.200 None 1.000 1 0 2014 2014
Entrez Id: 11155
Gene Symbol: LDB3
LDB3 		LIM domain binding 3 0.659 0.385 9.6E-06
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.200 None 1.000 1 0 2001 2001