B3GLCT, beta 3-glucosyltransferase, 145173

N. diseases: 157; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 GeneticVariation disease BEFREE Peters plus syndrome (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, hypertelorism, short stature, and brachydactyly, is caused by mutations in the β3-glucosyltransferase (B3GLCT) gene. 31600785 2019
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. 29096039 2018
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 GeneticVariation disease BEFREE Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome. 28926587 2017
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 CausalMutation disease CLINVAR Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis. 26684045 2016
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. 23889335 2014
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 CausalMutation disease CLINVAR Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. 23889335 2014
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 GeneticVariation disease BEFREE Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. 23889335 2014
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 GeneticVariation disease BEFREE Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele. 23161355 2013
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 CausalMutation disease CLINVAR Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele. 23161355 2013
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 GeneticVariation disease BEFREE First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome. 23954224 2013
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 CausalMutation disease CLINVAR Absence of NR2E1 mutations in patients with aniridia. 23213277 2012
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 GeneticVariation disease BEFREE In this study, we screened the B3GALTL gene in two unrelated patients with typical Peters plus syndrome. 22759511 2012
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 GeneticVariation disease BEFREE The latter was present in a male diagnosed with Peters' anomaly who subsequently was found to have a known causative mutation for Peters' plus syndrome in B3GALTL (c.660+1G>A). 23213277 2012
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 GeneticVariation disease BEFREE Mutations in the B3GALTL gene encoding beta 1,3-glucosyltransferase have been found in virtually all patients with typical Peters Plus syndrome. 20584037 2010
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Novel B3GALTL mutation in Peters-plus Syndrome. 19796186 2009
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 CausalMutation disease CLINVAR Novel B3GALTL mutation in Peters-plus Syndrome. 19796186 2009
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 CausalMutation disease CLINVAR Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. 18199743 2008
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 Biomarker disease BEFREE These data confirm an important role for B3GALTL in causing typical Peters Plus syndrome, and suggest that this gene may not be implicated in syndromic cases that involve Peters anomaly but lack other classic features of this complex condition. 18798333 2008
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND These data confirm an important role for B3GALTL in causing typical Peters Plus syndrome, and suggest that this gene may not be implicated in syndromic cases that involve Peters anomaly but lack other classic features of this complex condition. 18798333 2008
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 CausalMutation disease CLINVAR These data confirm an important role for B3GALTL in causing typical Peters Plus syndrome, and suggest that this gene may not be implicated in syndromic cases that involve Peters anomaly but lack other classic features of this complex condition. 18798333 2008
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 GeneticVariation disease BEFREE Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. 16909395 2006
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. 16909395 2006
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 CausalMutation disease CLINVAR Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. 16909395 2006
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 Biomarker disease CTD_human Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. 16909395 2006