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: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0456909
Disease: Blindness
Blindness 		phenotype 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		disease 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		disease 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		disease 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		phenotype 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		disease 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0266544
Disease: Microcornea
Microcornea 		disease 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		disease 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		disease 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus 		disease 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		phenotype 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C4025773
Disease: Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature 		phenotype 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		disease 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		phenotype 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C2676026
Disease: Optic nerve dysplasia
Optic nerve dysplasia 		phenotype 0.100 None 0 0