MCID: FCT020

Factor Xiii Subunit a Deficiency malady

Genetic diseases (common) category
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Summaries for Factor Xiii Subunit a Deficiency

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33MalaCards
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MalaCards: Factor Xiii Subunit a Deficiency An important gene associated with Factor Xiii Subunit a Deficiency is F13A1 (coagulation factor XIII, A1 polypeptide).

Aliases & Classifications for Factor Xiii Subunit a Deficiency

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20GeneTests, 22GTR
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Classifications:

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Global: Genetic diseases (common)


Aliases & Descriptions:

factor xiii subunit a deficiency 20 22


Related Diseases for Factor Xiii Subunit a Deficiency

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Symptoms for Factor Xiii Subunit a Deficiency

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Drugs & Therapeutics for Factor Xiii Subunit a Deficiency

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Factor Xiii Subunit a Deficiency

Genetic Tests for Factor Xiii Subunit a Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Factor Xiii Subunit a Deficiency:

id Genetic test Affiliating Genes
1 Factor Xiii Subunit a Deficiency20 F13A1
2 Factor Xiii, a Subunit, Deficiency of22

Anatomical Context for Factor Xiii Subunit a Deficiency

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Animal Models for Factor Xiii Subunit a Deficiency or affiliated genes

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Publications for Factor Xiii Subunit a Deficiency

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52PubMed
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Articles related to Factor Xiii Subunit a Deficiency:

idTitleAuthorsYear
1
Mutations causing coagulation factor XIII subunit A deficiency: characterization of the mutant proteins after expression in yeast. (7727776)
1995

Variations for Factor Xiii Subunit a Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Factor Xiii Subunit a Deficiency:

1 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1F13A1NM_000129.3(F13A1): c.2045G> A (p.Arg682His)single nucleotide variantPathogenicrs121913064GRCh37Chr 6, 6152046: 6152046
2F13A1NM_000129.3(F13A1): c.514C> T (p.Arg172Ter)single nucleotide variantPathogenicrs121913065GRCh37Chr 6, 6266848: 6266848
3F13A1NM_000129.3(F13A1): c.1326C> A (p.Tyr442Ter)single nucleotide variantPathogenicrs121913066GRCh37Chr 6, 6182354: 6182354
4F13A1NM_000129.3(F13A1): c.183C> A (p.Asn61Lys)single nucleotide variantPathogenicrs121913067GRCh37Chr 6, 6305720: 6305720
5F13A1NM_000129.3(F13A1): c.1504G> A (p.Gly502Arg)single nucleotide variantPathogenicrs121913068GRCh37Chr 6, 6175056: 6175056
6F13A1NM_000129.3(F13A1): c.1687G> A (p.Gly563Arg)single nucleotide variantPathogenicrs121913069GRCh37Chr 6, 6174873: 6174873
7F13A1NM_000129.3(F13A1): c.1243G> T (p.Val415Phe)single nucleotide variantPathogenicrs121913070GRCh37Chr 6, 6196092: 6196092
8F13A1NM_000129.3(F13A1): c.782G> A (p.Arg261His)single nucleotide variantPathogenicrs121913071GRCh37Chr 6, 6248561: 6248561
9F13A1NM_000129.3(F13A1): c.980G> A (p.Arg327Gln)single nucleotide variantPathogenicrs121913072GRCh37Chr 6, 6222398: 6222398
10F13A1NM_000129.3(F13A1): c.949G> T (p.Val317Phe)single nucleotide variantPathogenicrs121913073GRCh37Chr 6, 6224943: 6224943
11F13A1NM_000129.3(F13A1): c.851A> G (p.Tyr284Cys)single nucleotide variantPathogenicrs121913074GRCh37Chr 6, 6225041: 6225041
12F13A1NM_000129.3(F13A1): c.2110C> T (p.Arg704Trp)single nucleotide variantPathogenicrs267606787GRCh37Chr 6, 6145941: 6145941
13F13A1NM_000129.3(F13A1): c.1984C> T (p.Arg662Ter)single nucleotide variantPathogenicrs267606789GRCh37Chr 6, 6152107: 6152107
14F13A1NM_000129.3(F13A1): c.728T> C (p.Met243Thr)single nucleotide variantPathogenicrs267606788GRCh37Chr 6, 6248615: 6248615
15F13A1NM_000129.3(F13A1): c.-19+12A=single nucleotide variantPathogenicrs2815822GRCh37Chr 6, 6320808: 6320808

Expression for genes affiliated with Factor Xiii Subunit a Deficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Factor Xiii Subunit a Deficiency

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Pathways for genes affiliated with Factor Xiii Subunit a Deficiency

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Compounds for genes affiliated with Factor Xiii Subunit a Deficiency

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GO Terms for genes affiliated with Factor Xiii Subunit a Deficiency

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Products for genes affiliated with Factor Xiii Subunit a Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Factor Xiii Subunit a Deficiency

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet