C1GALT1C1, C1GALT1 specific chaperone 1, 29071

N. diseases: 25; N. variants: 5
Disease: Tn Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272137
Disease: Tn Syndrome
Tn Syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0272137
Disease: Tn Syndrome
Tn Syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND The Genetics of IgA Nephropathy: An Overview from Western Countries. 27536663 2015
CUI: C0272137
Disease: Tn Syndrome
Tn Syndrome 		0.700 GeneticVariation disease UNIPROT New mutations in C1GALT1C1 in individuals with Tn positive phenotype. 18537974 2008
CUI: C0272137
Disease: Tn Syndrome
Tn Syndrome 		0.700 GeneticVariation disease UNIPROT Protein glycosylation: chaperone mutation in Tn syndrome. 16251947 2005
CUI: C0272137
Disease: Tn Syndrome
Tn Syndrome 		0.700 Biomarker disease CTD_human
CUI: C0272137
Disease: Tn Syndrome
Tn Syndrome 		0.700 CausalMutation disease CLINVAR