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: 8925
Gene Symbol: HERC1
HERC1 		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 0.674 0.500 1.00
CUI: C4310766
Disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION 		disease 0.700 strong 1.000 0 4 2015 2016
Entrez Id: 8925
Gene Symbol: HERC1
HERC1 		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 0.674 0.500 1.00
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8925
Gene Symbol: HERC1
HERC1 		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 0.674 0.500 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8925
Gene Symbol: HERC1
HERC1 		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 0.674 0.500 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8925
Gene Symbol: HERC1
HERC1 		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 0.674 0.500 1.00
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease 0.100 None 1.000 1 1 2016 2016