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: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C0241395
Disease: Spatulate thumbs
Spatulate thumbs 		phenotype 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		phenotype 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C0265642
Disease: Talipes Equinovalgus
Talipes Equinovalgus 		disease 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		disease 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		disease 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C4024174
Disease: Broad distal phalanges of all fingers
Broad distal phalanges of all fingers 		disease 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall 		disease 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C3278429
Disease: Bilateral elbow dislocations
Bilateral elbow dislocations 		phenotype 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		disease 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C1855852
Disease: Abnormally large globe
Abnormally large globe 		phenotype 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C1855544
Disease: Enlarged metaphyses
Enlarged metaphyses 		phenotype 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C1855538
Disease: Small face
Small face 		phenotype 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype 0.100 None 0 0