FANCT
MCID: UB2001
MIFTS: 6

Ube2t-Related Fanconi Anemia (FANCT) malady

Categories: Genetic diseases

Aliases & Classifications for Ube2t-Related Fanconi Anemia

Aliases & Descriptions for Ube2t-Related Fanconi Anemia:

Name: Ube2t-Related Fanconi Anemia 24
Fanconi Anemia, Complementation Group T 24
Fanct 24

Classifications:



Summaries for Ube2t-Related Fanconi Anemia

MalaCards based summary : Ube2t-Related Fanconi Anemia, also known as fanconi anemia, complementation group t, is related to fanconi anemia, complementation group t and fanconi anemia, complementation group a. An important gene associated with Ube2t-Related Fanconi Anemia is UBE2T (Ubiquitin Conjugating Enzyme E2 T).

Related Diseases for Ube2t-Related Fanconi Anemia

Symptoms & Phenotypes for Ube2t-Related Fanconi Anemia

Drugs & Therapeutics for Ube2t-Related Fanconi Anemia

Search Clinical Trials , NIH Clinical Center for Ube2t-Related Fanconi Anemia

Genetic Tests for Ube2t-Related Fanconi Anemia

Genetic tests related to Ube2t-Related Fanconi Anemia:

id Genetic test Affiliating Genes
1 Ube2t-Related Fanconi Anemia 24 UBE2T

Anatomical Context for Ube2t-Related Fanconi Anemia

Publications for Ube2t-Related Fanconi Anemia

Variations for Ube2t-Related Fanconi Anemia

ClinVar genetic disease variations for Ube2t-Related Fanconi Anemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UBE2T NM_014176.3(UBE2T): c.4C> G (p.Gln2Glu) single nucleotide variant Pathogenic rs774357609 GRCh37 Chromosome 1, 202304879: 202304879
2 UBE2T NM_014176.3(UBE2T): c.179+5G> A single nucleotide variant Pathogenic rs796052212 GRCh38 Chromosome 1, 202334984: 202334984

Expression for Ube2t-Related Fanconi Anemia

Search GEO for disease gene expression data for Ube2t-Related Fanconi Anemia.

Pathways for Ube2t-Related Fanconi Anemia

GO Terms for Ube2t-Related Fanconi Anemia

Sources for Ube2t-Related Fanconi Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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