MCID: FNC030

Fanconi Anemia, Complementation Group G malady

Genetic diseases (common) category

Summaries for Fanconi Anemia, Complementation Group G

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48OMIM, 34MalaCards
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MalaCards: Fanconi Anemia, Complementation Group G An important gene associated with Fanconi Anemia, Complementation Group G is FANCG (Fanconi anemia, complementation group G). Affiliated tissues include bone marrow and bone.

Description from OMIM:48 614082

Aliases & Classifications for Fanconi Anemia, Complementation Group G

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48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

fanconi anemia, complementation group g 48


Related Diseases for Fanconi Anemia, Complementation Group G

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Symptoms for Fanconi Anemia, Complementation Group G

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48OMIM
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Clinical features from OMIM:

614082

Drugs & Therapeutics for Fanconi Anemia, Complementation Group G

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Fanconi Anemia, Complementation Group G

Search NIH Clinical Center for Fanconi Anemia, Complementation Group G

Search CenterWatch for Fanconi Anemia, Complementation Group G

Genetic Tests for Fanconi Anemia, Complementation Group G

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Anatomical Context for Fanconi Anemia, Complementation Group G

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34MalaCards
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MalaCards organs/tissues related to Fanconi Anemia, Complementation Group G:

34
Bone marrow, Bone

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

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Publications for Fanconi Anemia, Complementation Group G

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Variations for Fanconi Anemia, Complementation Group G

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Fanconi Anemia, Complementation Group G:

65
id Symbol AA change Variation ID SNP ID
1FANCGp.Leu71ProVAR_017495

Clinvar genetic disease variations for Fanconi Anemia, Complementation Group G:

1
id Gene Name Type Significance SNP ID Assembly Location
1FANCGNM_004629.1(FANCG): c.1183_1192delGAGGTGTTTT (p.Glu395Trpfs)deletionPathogenicrs397507559GRCh37Chr 9, 35075703: 35075712
2FANCGNM_004629.1(FANCG): c.313G> T (p.Glu105Ter)single nucleotide variantPathogenicrs121434425GRCh37Chr 9, 35078335: 35078335
3FANCGFANCG, IVS13, G-C, -1single nucleotide variantPathogenic
4FANCGNM_004629.1(FANCG): c.307+1G> Csingle nucleotide variantPathogenicrs200479612GRCh37Chr 9, 35078601: 35078601
5FANCGNM_004629.1(FANCG): c.1066C> T (p.Gln356Ter)single nucleotide variantPathogenicrs121434426GRCh37Chr 9, 35076439: 35076439
6FANCGNM_004629.1(FANCG): c.925-2A> Gsingle nucleotide variantPathogenicrs397507561GRCh37Chr 9, 35076582: 35076582
7FANCGNM_004629.1(FANCG): c.1480+1G> Csingle nucleotide variantPathogenicrs149616199GRCh37Chr 9, 35075275: 35075275
8FANCGNM_004629.1(FANCG): c.1794_1803delCTGGATCCGT (p.Trp599Profs)deletionPathogenicrs397507560GRCh37Chr 9, 35074171: 35074180
9FANCGNM_004629.1(FANCG): c.637_643delTACCGCC (p.Tyr213Lysfs)deletionPathogenicGRCh37Chr 9, 35077264: 35077270

Expression for genes affiliated with Fanconi Anemia, Complementation Group G

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fanconi Anemia, Complementation Group G

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Pathways for genes affiliated with Fanconi Anemia, Complementation Group G

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Compounds for genes affiliated with Fanconi Anemia, Complementation Group G

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

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Products for genes affiliated with Fanconi Anemia, Complementation Group G

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fanconi Anemia, Complementation Group G

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet