Source: HPO

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: C0086437
Disease: Joint laxity
Joint laxity 		phenotype 0.100 None 0 0
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: C0152421
Disease: Macrotia
Macrotia 		disease 0.100 None 0 0
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: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
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: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
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: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease 0.100 None 0 0
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: C0241240
Disease: Tall stature
Tall stature 		phenotype 0.100 None 0 0
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: C0399526
Disease: Class III malocclusion
Class III malocclusion 		disease 0.100 None 0 0
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: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype 0.100 None 0 0
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: C0003706
Disease: Arachnodactyly
Arachnodactyly 		disease 0.100 None 0 0