MCID: FNC032
MIFTS: 27

Fanconi Anemia, Complementation Group B malady

Summaries for Fanconi Anemia, Complementation Group B

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47OMIM, 33MalaCards
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MalaCards: Fanconi Anemia, Complementation Group B is related to fanconi anemia, complementation group l and fanconi anemia, complementation group g. An important gene associated with Fanconi Anemia, Complementation Group B is FANCB (Fanconi anemia, complementation group B), and among its related pathways are DNA damage ATM/ATR regulation of G1/S checkpoint and DNA damage Role of Brca1 and Brca2 in DNA repair. The compounds melphalan and cisplatin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and breast, and related mouse phenotypes are endocrine/exocrine gland and cellular.

Description from OMIM:47 300514

Aliases & Classifications for Fanconi Anemia, Complementation Group B

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47OMIM
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Aliases & Descriptions:

fanconi anemia, complementation group b 47


Related Diseases for Fanconi Anemia, Complementation Group B

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Fanconi Anemia, Complementation Group B:



Diseases related to fanconi anemia, complementation group b

Clinical Features for Fanconi Anemia, Complementation Group B

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47OMIM
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Clinical features from OMIM:

300514

Drugs & Therapeutics for Fanconi Anemia, Complementation Group B

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Fanconi Anemia, Complementation Group B

Drug clinical trials:

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Genetic Tests for Fanconi Anemia, Complementation Group B

Anatomical Context for Fanconi Anemia, Complementation Group B

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33MalaCards
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MalaCards organs/tissues related to Fanconi Anemia, Complementation Group B:

33
Bone marrow, Breast

Animal Models for Fanconi Anemia, Complementation Group B or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group B:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.7FANCD2, FANCL, FANCC
2MP:00053847.6FANCA, FANCC, FANCD2, FANCG, FANCL
3MP:00053897.3FANCC, FANCD2, FANCG, FANCL, FANCA

Publications for Fanconi Anemia, Complementation Group B

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51PubMed
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Articles related to Fanconi Anemia, Complementation Group B:

idTitleAuthorsYear
1
Silencing of fanconi anemia complementation group f exhibits potent chemosensitization of mitomycin C activity in breast cancer cells. (24155758)
2013
2
Fanconi anemia (FA) binding protein FAAP20 stabilizes FA complementation group A (FANCA) and participates in interstrand cross- link repair. (22396592)
2012
3
Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction. (19861535)
2009
4
Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. (19405097)
2009
5
Inducibility of nuclear Rad51 foci after DNA damage distinguishes all Fanconi anemia complementation groups from D1/BRCA2. (16154163)
2006
6
Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2. (16920162)
2006
7
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. (16116423)
2005
8
SNX5, a new member of the sorting nexin family, binds to the Fanconi anemia complementation group A protein. (10600472)
1999
9
A damage-recognition protein which binds to DNA containing interstrand cross-links is absent or defective in Fanconi anemia, complementation group A, cells. (8414972)
1993
10
Mutagenic response of Fanconi's anemia cells from a defined complementation group after treatment with photoactivated bifunctional psoralens. (2159378)
1990

Genetic Variations for Fanconi Anemia, Complementation Group B

Expression for genes affiliated with Fanconi Anemia, Complementation Group B

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fanconi Anemia, Complementation Group B

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group B.

Pathways for genes affiliated with Fanconi Anemia, Complementation Group B

Sources:
12EMD Millipore, 52QIAGEN, 54Reactome, 38NCBI BioSystems Database, 30KEGG
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Pathways related to Fanconi Anemia, Complementation Group B according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3FANCL, FANCD2
2
DNA damage Role of Brca1 and Brca2 in DNA repair
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9.3FANCD2, FANCL
38.6FANCD2, FANCL, FANCG, FANCB
4
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7.3FANCD2, FANCA, FANCC, FANCG, FANCF, FANCE
56.7FANCA, FANCC, FANCD2, FANCG, FANCL, FANCF
6
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6.4FANCA, FANCF, FANCL, FANCE, FANCG, FANCD2
76.4FANCL, FANCE, FANCF, FANCG, FANCD2, FANCB
8
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6.4FANCL, FANCA, FANCC, FANCB, FANCD2, FANCG

Compounds for genes affiliated with Fanconi Anemia, Complementation Group B

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Fanconi Anemia, Complementation Group B according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1melphalan45 1110.0FANCD2, FANCC
2cisplatin45 50 60 1111.6FANCG, FANCD2, FANCA
3diepoxybutane458.0FANCA, FANCC, FANCD2, FANCG
4mitomycin c456.7FANCL, FANCE, FANCF, FANCG, FANCD2, FANCC

GO Terms for genes affiliated with Fanconi Anemia, Complementation Group B

Sources:
16Gene Ontology
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Cellular components related to Fanconi Anemia, Complementation Group B according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Fanconi anaemia nuclear complexGO:0432406.7FANCA, FANCC, FANCB, FANCG, FANCF, FANCE
2nucleoplasmGO:0056546.4FANCA, FANCC, FANCB, FANCD2, FANCG, FANCF

Biological processes related to Fanconi Anemia, Complementation Group B according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gamete generationGO:0072769.2FANCL, FANCD2
2protein complex assemblyGO:0064619.1FANCC, FANCA
3regulation of cell proliferationGO:0421278.8FANCL, FANCA
4DNA repairGO:0062816.4FANCL, FANCA, FANCC, FANCB, FANCD2, FANCG

Molecular functions related to Fanconi Anemia, Complementation Group B according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.9FANCE, FANCF, FANCG, FANCD2, FANCB, FANCC

Products for genes affiliated with Fanconi Anemia, Complementation Group B

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  • Proteins
  • Lysates
  • Antibodies

Sources for Fanconi Anemia, Complementation Group B

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet