MCID: FNC027
MIFTS: 28

Fanconi Anemia, Complementation Group a malady

Summaries for Fanconi Anemia, Complementation Group a

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46OMIM, 32MalaCards
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MalaCards: Fanconi Anemia, Complementation Group a is related to deficiency anemia and complement deficiency. An important gene associated with Fanconi Anemia, Complementation Group a is FANCA (Fanconi anemia, complementation group A), and among its related pathways are Chks in Checkpoint Regulation and Nucleotide Excision Repair. The compounds diepoxybutane and mitomycin c have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Description from OMIM:46 227650

Aliases & Classifications for Fanconi Anemia, Complementation Group a

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46OMIM
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Aliases & Descriptions:

fanconi anemia, complementation group a 46


Related Diseases for Fanconi Anemia, Complementation Group a

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



Diseases related to fanconi anemia, complementation group a

Clinical Features for Fanconi Anemia, Complementation Group a

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46OMIM
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Clinical features from OMIM:

227650

Clinical synopsis from OMIM:

227650

Drugs & Therapeutics for Fanconi Anemia, Complementation Group a

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Fanconi Anemia, Complementation Group a

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Anatomical Context for Fanconi Anemia, Complementation Group a

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32MalaCards
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MalaCards organs/tissues related to Fanconi Anemia, Complementation Group a:

32
Bone marrow, Bone

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

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36MGI
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MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group a:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1PSAP, FANCG, FANCA, CASP3
2MP:00053797.8PSAP, FANCG, FANCA, CASP3

Publications for Fanconi Anemia, Complementation Group a

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Genetic Variations for Fanconi Anemia, Complementation Group a

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Fanconi Anemia, Complementation Group a:

62 (show all 29)
id Symbol AA change Variation ID SNP ID
1FANCAp.Ala181ValVAR_009639rs17232246
2FANCAp.Leu244PheVAR_009640
3FANCAp.Asp252GlyVAR_009641rs17225943
4FANCAp.Arg435CysVAR_009642
5FANCAp.His492ArgVAR_009643
6FANCAp.Leu817ProVAR_009647
7FANCAp.Leu845ProVAR_009648
8FANCAp.Arg1055LeuVAR_009649
9FANCAp.His1110ProVAR_009650
10FANCAp.Arg1117GlyVAR_009651
11FANCAp.Gln1128GluVAR_009652
12FANCAp.Thr1131AlaVAR_009653
13FANCAp.Trp1302ArgVAR_009656
14FANCAp.His1417AspVAR_009658rs17227403
15FANCAp.Asp598AsnVAR_017497
16FANCAp.Ser858ArgVAR_017498rs17233141
17FANCAp.Arg1055TrpVAR_017499
18FANCAp.Leu1082ProVAR_017500
19FANCAp.Ser1088PheVAR_017501rs17233497
20FANCAp.Phe1262LeuVAR_017502
21FANCAp.Asp1359TyrVAR_017503
22FANCAp.Met1360IleVAR_017504
23FANCAp.Pro1324LeuVAR_017505rs182657062
24FANCAp.Leu210ArgVAR_038012
25FANCAp.Leu660ProVAR_038013
26FANCAp.Tyr843AspVAR_038015
27FANCAp.Gln869ProVAR_038016
28FANCAp.Leu1249ProVAR_038019
29FANCAp.Arg1400HisVAR_038021rs149851163

Expression for genes affiliated with Fanconi Anemia, Complementation Group a

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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 a

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Pathways for genes affiliated with Fanconi Anemia, Complementation Group a

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51QIAGEN, 53Reactome, 29KEGG, 37NCBI BioSystems Database
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Pathways related to Fanconi Anemia, Complementation Group a according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.5FANCG, FANCA
2
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9.5FANCG, FANCA
39.5FANCA, FANCG
49.5FANCG, FANCA
5
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9.5FANCG, FANCA

Compounds for genes affiliated with Fanconi Anemia, Complementation Group a

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44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Fanconi Anemia, Complementation Group a according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1diepoxybutane449.6FANCG, FANCA
2mitomycin c449.4FANCG, FANCA
3phosphatidylserine44 28 1111.0PSAP, CASP3
4cisplatin44 49 59 1111.7FANCG, FANCA, CASP3
5ceramide448.7PSAP, CASP3
6h2o2448.7CASP3, FANCA, FANCG

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

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

idNameGO IDScoreTop Affiliating Genes
1Fanconi anaemia nuclear complexGO:0432409.2FANCG, FANCA
2nucleoplasmGO:0056548.7FANCG, FANCA, CASP3

Products for genes affiliated with Fanconi Anemia, Complementation Group a

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Fanconi Anemia, Complementation Group a

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet