Source: CLINVAR

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: 8924
Gene Symbol: HERC2
HERC2 		HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.568 0.692 1.00
CUI: C3809753
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 		disease 0.700 None 1.000 0 2 2012 2013
Entrez Id: 8924
Gene Symbol: HERC2
HERC2 		HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.568 0.692 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.100 None 1.000 2 3 2006 2013
Entrez Id: 8924
Gene Symbol: HERC2
HERC2 		HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.568 0.692 1.00
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		phenotype 0.100 None 0 1
Entrez Id: 8924
Gene Symbol: HERC2
HERC2 		HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.568 0.692 1.00
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		disease 0.100 None 0 1
Entrez Id: 8924
Gene Symbol: HERC2
HERC2 		HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.568 0.692 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.100 None 0 1
Entrez Id: 8924
Gene Symbol: HERC2
HERC2 		HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.568 0.692 1.00
CUI: C0221166
Disease: Paraparesis
Paraparesis 		phenotype 0.100 None 0 1
Entrez Id: 8924
Gene Symbol: HERC2
HERC2 		HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.568 0.692 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 8924
Gene Symbol: HERC2
HERC2 		HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.568 0.692 1.00
CUI: C1856895
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 		phenotype 0.100 None 0 3
Entrez Id: 8924
Gene Symbol: HERC2
HERC2 		HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.568 0.692 1.00
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease 0.100 None 0 1
Entrez Id: 8924
Gene Symbol: HERC2
HERC2 		HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.568 0.692 1.00
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		phenotype 0.100 None 0 1
Entrez Id: 8924
Gene Symbol: HERC2
HERC2 		HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.568 0.692 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.100 None 0 1