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: 1146
Gene Symbol: CHRNG
CHRNG 		cholinergic receptor nicotinic gamma subunit 0.573 0.692 3.3E-19
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		disease 0.710 None 1.000 4 5 2006 2019
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1 		cholinergic receptor nicotinic alpha 1 subunit 0.615 0.577 2.1E-08
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		disease 0.700 None 1.000 7 3 1982 2018
Entrez Id: 1144
Gene Symbol: CHRND
CHRND 		cholinergic receptor nicotinic delta subunit 0.641 0.462 5.4E-09
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		disease 0.700 strong 1.000 2 4 2006 2008
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		disease 0.310 None 1.000 2 0 2014 2016
Entrez Id: 4703
Gene Symbol: NEB
NEB 		nebulin 0.608 0.692 4.6E-41
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		disease 0.310 None 1.000 1 0 2017 2017
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		disease 0.300 None 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		disease 0.010 None 1.000 1 1 2013 2013
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		tropomyosin 2 0.530 0.654 2.4E-04
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		disease 0.010 None 1.000 1 0 2009 2009