MCID: FNC030
MIFTS: 17

Fanconi Anemia, Complementation Group G malady

Genetic diseases (common) category

Summaries for Fanconi Anemia, Complementation Group G

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OMIM:45 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability.... (614082) more...

MalaCards based summary: Fanconi Anemia, Complementation Group G and has symptoms including growth delay, microcephaly and microphthalmos. An important gene associated with Fanconi Anemia, Complementation Group G is FANCG (Fanconi anemia, complementation group G). Affiliated tissues include bone marrow and bone.

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 45 10 22


Classifications:

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


External Ids:

OMIM45 614082

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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Genetic tests related to Fanconi Anemia, Complementation Group G:

id Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group G22

Anatomical Context for Fanconi Anemia, Complementation Group G

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

31
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:

62
id Symbol AA change Variation ID SNP ID
1FANCGp.Leu71ProVAR_017495

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

6
id Gene Variation 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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Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group G.

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
  • Proteins
  • Kits and Assays

Sources for Fanconi Anemia, Complementation Group G

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet