FUT8, fucosyltransferase 8, 2530

N. diseases: 91; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693905
Disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 		0.610 GeneticVariation disease UNIPROT Autozygome and high throughput confirmation of disease genes candidacy. 30237576 2019
CUI: C4693905
Disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 		0.610 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. 29304374 2018
CUI: C4693905
Disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 		0.610 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. 29304374 2018
CUI: C4693905
Disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 		0.610 GeneticVariation disease BEFREE Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. 29304374 2018
CUI: C4693905
Disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 		0.610 GeneticVariation disease UNIPROT Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. 29304374 2018
CUI: C4693905
Disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 		0.610 Biomarker disease GENOMICS_ENGLAND Core fucosylation of N-linked glycans in leukocyte adhesion deficiency/congenital disorder of glycosylation IIc fibroblasts. 15917429 2005
CUI: C4693905
Disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 		0.610 CausalMutation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype GENOMICS_ENGLAND Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. 29304374 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND Core fucosylation of N-linked glycans in leukocyte adhesion deficiency/congenital disorder of glycosylation IIc fibroblasts. 15917429 2005
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 AlteredExpression disease BEFREE Dysregulated FUT8 and POFUT2 expression could potentially explain a variety of molecular abnormalities in schizophrenia. 27773385 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease PSYGENET We previously reported that Fut8-knock-out (Fut8(-/-)) mice showed a schizophrenia-like phenotype and a decrease in working memory. 25979332 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease PSYGENET Fut8(-/-) mice exhibited multiple behavioral abnormalities consistent with a schizophrenia-like phenotype. 21471224 2011
CUI: C0809983
Disease: Schizophrenia and related disorders
Schizophrenia and related disorders 		0.310 AlteredExpression group BEFREE This result suggests that reduced expression of Fut8 is a plausible cause of schizophrenia and related disorders. 21471224 2011
CUI: C0809983
Disease: Schizophrenia and related disorders
Schizophrenia and related disorders 		0.310 Biomarker group PSYGENET This result suggests that reduced expression of Fut8 is a plausible cause of schizophrenia and related disorders. 21471224 2011
CUI: C0029607
Disease: Other emphysema
Other emphysema 		0.200 Biomarker phenotype MGD Dysregulation of TGF-beta1 receptor activation leads to abnormal lung development and emphysema-like phenotype in core fucose-deficient mice. 16236725 2005
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.110 GeneticVariation disease BEFREE Childhood glaucoma in association with congenital disorder of glycosylation caused by mutations in fucosyltransferase 8. 31580894 2019
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.110 Biomarker disease HPO
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT Exome-wide association study of plasma lipids in >300,000 individuals. 29083408 2017
CUI: C1314691
Disease: Age at menarche
Age at menarche 		0.100 GeneticVariation phenotype GWASCAT Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. 25231870 2014
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO