Source: MGD

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: 3679
Gene Symbol: ITGA7
ITGA7 		integrin subunit alpha 7 0.588 0.654 4.3E-17
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		disease 0.200 None 1.000 3 0 1997 2013
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: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		disease 0.200 None 1.000 2 0 2013 2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		disease 0.200 None 1.000 2 0 2010 2016
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		disease 0.200 None 1.000 1 0 2012 2012
Entrez Id: 1120
Gene Symbol: CHKB
CHKB 		choline kinase beta 0.663 0.423 3.8E-07
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		disease 0.200 None 1.000 1 0 2006 2006
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		fukutin 0.511 0.692 8.7E-07
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		disease 0.200 None 1.000 1 0 2009 2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		disease 0.200 None 1.000 1 0 2012 2012
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1 		LARGE xylosyl- and glucuronyltransferase 1 0.526 0.654 0.99
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		disease 0.200 None 1.000 1 0 2005 2005
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		disease 0.200 None 0 0