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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.150 None 1.000 0 0 2012 2017
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: C0221355
Disease: Macrocephaly
Macrocephaly 		disease 0.120 None 1.000 0 0 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: C0557874
Disease: Global developmental delay
Global developmental delay 		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: C0576225
Disease: Long foot
Long foot 		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: C0751837
Disease: Gait Ataxia
Gait Ataxia 		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: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		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: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		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: C1835884
Disease: Triangular face
Triangular face 		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: C1836047
Disease: Long face
Long face 		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: C1837260
Disease: Prominent forehead
Prominent forehead 		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: C1839816
Disease: Long neck
Long neck 		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: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		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: C1854882
Disease: Absent speech
Absent speech 		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: C1858085
Disease: Malar flattening
Malar flattening 		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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		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: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		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: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		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: C0426870
Disease: Large hand
Large hand 		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: C0423110
Disease: Downward slant of palpebral fissure
Downward 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: C0015300
Disease: Exophthalmos
Exophthalmos 		disease 0.100 None 1.000 0 0 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: C0016202
Disease: Flatfoot
Flatfoot 		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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 1.000 0 0 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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		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: C0024003
Disease: Lordosis
Lordosis 		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: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.100 None 0 0