MCID: FCS013
MIFTS: 6

Fucosyltransferase 6 Deficiency

Categories: Genetic diseases

Aliases & Classifications for Fucosyltransferase 6 Deficiency

MalaCards integrated aliases for Fucosyltransferase 6 Deficiency:

Name: Fucosyltransferase 6 Deficiency 57 29 13 6 40 73

Classifications:



External Ids:

OMIM 57 613852
UMLS 73 C3151219

Summaries for Fucosyltransferase 6 Deficiency

MalaCards based summary : Fucosyltransferase 6 Deficiency An important gene associated with Fucosyltransferase 6 Deficiency is FUT6 (Fucosyltransferase 6).

Description from OMIM: 613852

Related Diseases for Fucosyltransferase 6 Deficiency

Symptoms & Phenotypes for Fucosyltransferase 6 Deficiency

Clinical features from OMIM:

613852

Drugs & Therapeutics for Fucosyltransferase 6 Deficiency

Search Clinical Trials , NIH Clinical Center for Fucosyltransferase 6 Deficiency

Genetic Tests for Fucosyltransferase 6 Deficiency

Genetic tests related to Fucosyltransferase 6 Deficiency:

# Genetic test Affiliating Genes
1 Fucosyltransferase 6 Deficiency 29 FUT6

Anatomical Context for Fucosyltransferase 6 Deficiency

Publications for Fucosyltransferase 6 Deficiency

Variations for Fucosyltransferase 6 Deficiency

ClinVar genetic disease variations for Fucosyltransferase 6 Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FUT6 NM_000150.2(FUT6): c.945C> A (p.Tyr315Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs145035679 GRCh38 Chromosome 19, 5831623: 5831623
2 FUT6 NM_000150.2(FUT6): c.945C> A (p.Tyr315Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs145035679 GRCh37 Chromosome 19, 5831634: 5831634

Expression for Fucosyltransferase 6 Deficiency

Search GEO for disease gene expression data for Fucosyltransferase 6 Deficiency.

Pathways for Fucosyltransferase 6 Deficiency

GO Terms for Fucosyltransferase 6 Deficiency

Sources for Fucosyltransferase 6 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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