Source: CLINGEN

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: 8036
Gene Symbol: SHOC2
SHOC2 		SHOC2 leucine rich repeat scaffold protein 0.593 0.769 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 0.800 disputed 0.957 3 0 2009 2019
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		SHOC2 leucine rich repeat scaffold protein 0.593 0.769 1.00
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		disease 0.700 definitive 1.000 6 0 2009 2019
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		SHOC2 leucine rich repeat scaffold protein 0.593 0.769 1.00
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		disease 0.310 definitive 1.000 6 0 2009 2016
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		SHOC2 leucine rich repeat scaffold protein 0.593 0.769 1.00
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		disease 0.310 disputed 1.000 1 0 2010 2011
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		SHOC2 leucine rich repeat scaffold protein 0.593 0.769 1.00
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		disease 0.310 disputed 1.000 1 0 2010 2010
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		SHOC2 leucine rich repeat scaffold protein 0.593 0.769 1.00
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 0.310 1.000 0 0 2011 2011