MCID: FNC030

Fanconi Anemia, Complementation Group G malady

Genetic diseases (common) category
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Summaries for Fanconi Anemia, Complementation Group G

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MalaCards based summary: Fanconi Anemia, Complementation Group G and has symptoms including 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:46 614082

Aliases & Classifications for Fanconi Anemia, Complementation Group G

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Fanconi Anemia, Complementation Group G, Aliases & Descriptions:

Name: Fanconi Anemia, Complementation Group G 46


Classifications:

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


Related Diseases for Fanconi Anemia, Complementation Group G

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Symptoms for Fanconi Anemia, Complementation Group G

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Clinical features from OMIM:

614082

HPO human phenotypes related to Fanconi Anemia, Complementation Group G:

(show all 11)
id Description Frequency HPO Source Accession
1 growth delay 19% HP:0001510
2 microcephaly 14% HP:0000252
3 microphthalmos 8% HP:0000568
4 abnormality of the thumb HP:0001172
5 thrombocytopenia HP:0001873
6 neutropenia HP:0001875
7 anemia HP:0001903
8 leukemia HP:0001909
9 myelodysplasia HP:0002863
10 abnormality of chromosome stability HP:0003220
11 multiple cafe-au-lait spots HP:0007565

Drugs & Therapeutics for Fanconi Anemia, Complementation Group G

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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

Genetic Tests for Fanconi Anemia, Complementation Group G

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Anatomical Context for Fanconi Anemia, Complementation Group G

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

32
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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UniProtKB/Swiss-Prot genetic disease variations for Fanconi Anemia, Complementation Group G:

64
id Symbol AA change Variation ID SNP ID
1FANCGp.Leu71ProVAR_017495

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

6
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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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

Sources for Fanconi Anemia, Complementation Group G

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet