Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 Biomarker GENOMICS_ENGLAND Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. 29096039

2018
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 Biomarker 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
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 Biomarker GENOMICS_ENGLAND Novel B3GALTL mutation in Peters-plus Syndrome. 19796186

2009
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 Biomarker 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
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.700 Biomarker GENOMICS_ENGLAND Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. 16909395

2006