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: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
Congenital muscular dystrophy (disorder)
disease 0.700 strong 1.000 0 0 2002 2012
Entrez Id: 1605
Gene Symbol: DAG1
DAG1
dystroglycan 1 0.522 0.655 0.97
Congenital muscular dystrophy (disorder)
disease 0.600 strong 1.000 4 0 1997 2018
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
anoctamin 5 0.645 0.448 4.1E-22
Congenital muscular dystrophy (disorder)
disease 0.510 limited 1.000 0 0 2009 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.406 0.724 1.00
Congenital muscular dystrophy (disorder)
disease 0.500 strong 1.000 3 0 2004 2017
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
titin-cap 0.685 0.138 0.18
Congenital muscular dystrophy (disorder)
disease 0.500 moderate 2 0 2010 2013
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
dysferlin 0.611 0.483 3.8E-33
Congenital muscular dystrophy (disorder)
disease 0.500 moderate 1 0 1999 2015
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
laminin subunit alpha 2 0.598 0.621 7.8E-47
Congenital muscular dystrophy (disorder)
disease 0.500 strong 0.968 0 0 1996 2017
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
protein O-mannosyltransferase 2 0.558 0.552 1.4E-11
Congenital muscular dystrophy (disorder)
disease 0.460 strong 1.000 0 0 2007 2014
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
Congenital muscular dystrophy (disorder)
disease 0.450 strong 1.000 0 0 2004 2011
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
protein O-mannosyltransferase 1 0.559 0.552 2.5E-17
Congenital muscular dystrophy (disorder)
disease 0.450 strong 1.000 0 0 2004 2015
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.557 0.483 8.5E-20
Congenital muscular dystrophy (disorder)
disease 0.440 strong 1.000 0 0 2004 2008
Entrez Id: 1120
Gene Symbol: CHKB
CHKB
choline kinase beta 0.648 0.483 3.5E-07
Congenital muscular dystrophy (disorder)
disease 0.440 strong 1.000 0 0 2014 2016
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
fukutin 0.522 0.586 7.7E-07
Congenital muscular dystrophy (disorder)
disease 0.420 strong 1.000 0 0 2004 2011
Entrez Id: 3679
Gene Symbol: ITGA7
ITGA7
integrin subunit alpha 7 0.663 0.379 2.4E-15
Congenital muscular dystrophy (disorder)
disease 0.410 strong 1.000 3 0 1998 2016
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
collagen type VI alpha 2 chain 0.645 0.552 1.2E-07
Congenital muscular dystrophy (disorder)
disease 0.410 strong 1.000 0 0 2004 2004
Entrez Id: 1303
Gene Symbol: COL12A1
COL12A1
collagen type XII alpha 1 chain 0.676 0.517 0.85
Congenital muscular dystrophy (disorder)
disease 0.400 strong 3 0 2014 2017
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
GDP-mannose pyrophosphorylase B 0.645 0.345 5.1E-07
Congenital muscular dystrophy (disorder)
disease 0.400 strong 2 0 2013 2015
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.545 0.621 2.3E-28
Congenital muscular dystrophy (disorder)
disease 0.400 strong 0 0 2015 2015
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
collagen type VI alpha 3 chain 0.611 0.690 9.2E-20
Congenital muscular dystrophy (disorder)
disease 0.400 strong 0 0
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
collagen type VI alpha 1 chain 0.645 0.621 1.00
Congenital muscular dystrophy (disorder)
disease 0.400 strong 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
selenoprotein N 0.636 0.379
Congenital muscular dystrophy (disorder)
disease 0.340 strong 1.000 0 0 2001 2015
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.477 0.724 1.00
Congenital muscular dystrophy (disorder)
disease 0.340 strong 1.000 0 0 1996 2007
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2
beta-1,3-N-acetylgalactosaminyltransferase 2 0.607 0.379 2.3E-07
Congenital muscular dystrophy (disorder)
disease 0.330 strong 1.000 1 0 2013 2017
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin, alpha 1, skeletal muscle 0.590 0.586 9.5E-07
Congenital muscular dystrophy (disorder)
disease 0.310 moderate 1.000 5 0 2010 2016
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
inositol polyphosphate-5-phosphatase K 0.652 0.379 4.5E-05
Congenital muscular dystrophy (disorder)
disease 0.310 strong 1.000 2 0 2017 2017