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: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		disease 0.780 None 1.000 11 11 2006 2019
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		myosin heavy chain 3 0.563 0.654 6.7E-21
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		disease 0.310 None 1.000 2 0 2015 2018
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		tropomyosin 2 0.530 0.654 2.4E-04
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		disease 0.310 strong 1.000 2 0 2009 2013
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		disease 0.300 None 1.000 1 0 2016 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		disease 0.200 None 1.000 1 0 2004 2004
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		interferon regulatory factor 6 0.486 0.769 1.00
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 43
Gene Symbol: ACHE
ACHE 		acetylcholinesterase (Cartwright blood group) 0.445 0.885 1.00
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		disease 0.010 None 1.000 1 0 2008 2008