Source: ORPHANET

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 0.513 0.731 9.8E-06
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease 0.800 strong 1.000 1 0 2001 2018
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease 0.720 None 1.000 1 0 2003 2009
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease 0.700 None 1.000 1 0 2002 2019
Entrez Id: 1605
Gene Symbol: DAG1
DAG1 		dystroglycan 1 0.498 0.808 0.98
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease 0.700 None 0.955 1 0 1998 2017
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		fukutin 0.511 0.692 8.7E-07
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease 0.660 None 1.000 2 0 1998 2016
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease 0.650 None 1.000 1 0 2012 2019
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease 0.620 None 1.000 1 0 2013 2016
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2 		protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) 0.628 0.500 5.6E-06
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease 0.620 strong 1.000 1 0 2012 2015
Entrez Id: 10329
Gene Symbol: RXYLT1
RXYLT1 		ribitol xylosyltransferase 1 0.633 0.462 1.1E-06
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease 0.600 None 1.000 2 0 2012 2013
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1 		LARGE xylosyl- and glucuronyltransferase 1 0.526 0.654 0.99
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease 0.600 strong 1.000 2 0 2009 2011
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease 0.600 None 1.000 1 0 2005 2018
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease 0.520 None 1.000 1 0 2011 2015
Entrez Id: 84197
Gene Symbol: POMK
POMK 		protein O-mannose kinase 0.590 0.500 1.9E-08
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease 0.510 None 1.000 1 0 2013 2014
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2 		beta-1,3-N-acetylgalactosaminyltransferase 2 0.578 0.577 2.8E-07
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease 0.500 None 1.000 1 0 2013 2013