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: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype 0.100 None 0 2
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1839125
Disease: Say Meyer syndrome
Say Meyer syndrome 		disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1840309
Disease: Short 4th metacarpal
Short 4th metacarpal 		phenotype 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 2
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1835465
Disease: Short stature, postnatal
Short stature, postnatal 		phenotype 0.100 None 0 3
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		phenotype 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1833144
Disease: Slender long bone
Slender long bone 		phenotype 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1835194
Disease: Thick corpus callosum
Thick corpus callosum 		phenotype 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1848514
Disease: Short fourth metatarsal
Short fourth metatarsal 		phenotype 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		disease 0.100 None 0 2
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		phenotype 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C4021650
Disease: Short third metatarsal
Short third metatarsal 		phenotype 0.100 None 0 1