MCID: FNC023
MIFTS: 10

Fanconi Anemia, Complementation Group N malady

Genetic diseases (common) category

Summaries for Fanconi Anemia, Complementation Group N

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48OMIM, 34MalaCards
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MalaCards: Fanconi Anemia, Complementation Group N An important gene associated with Fanconi Anemia, Complementation Group N is PALB2 (partner and localizer of BRCA2). Affiliated tissues include bone and bone marrow.

Description from OMIM:48 610832

Aliases & Classifications for Fanconi Anemia, Complementation Group N

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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 n 48


Related Diseases for Fanconi Anemia, Complementation Group N

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Symptoms for Fanconi Anemia, Complementation Group N

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48OMIM
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Clinical features from OMIM:

610832

Drugs & Therapeutics for Fanconi Anemia, Complementation Group N

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

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Drug clinical trials:

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Search NIH Clinical Center for Fanconi Anemia, Complementation Group N

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Genetic Tests for Fanconi Anemia, Complementation Group N

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Anatomical Context for Fanconi Anemia, Complementation Group N

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

34
Bone, Bone marrow

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

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Publications for Fanconi Anemia, Complementation Group N

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Variations for Fanconi Anemia, Complementation Group N

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Fanconi Anemia, Complementation Group N:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1PALB2NM_024675.3(PALB2): c.1653T> A (p.Tyr551Ter)single nucleotide variantPathogenicrs118203997GRCh37Chr 16, 23646214: 23646214
2PALB2PALB2: c.49-?_2586+?deldeletionPathogenic
3PALB2NM_024675.3(PALB2): c.3549C> G (p.Tyr1183Ter)single nucleotide variantPathogenic, risk factorrs118203998GRCh37Chr 16, 23614792: 23614792
4PALB2NM_024675.3(PALB2): c.2962C> T (p.Gln988Ter)single nucleotide variantPathogenic, risk factorrs118203999GRCh37Chr 16, 23634324: 23634324
5PALB2NM_024675.3(PALB2): c.1676_1677delAAinsG (p.Gln559Argfs)indelPathogenicrs515726073GRCh38Chr 16, 23634869: 23634870
6PALB2NM_024675.3(PALB2): c.2393_2394insCT (p.Thr799Leufs)insertionPathogenicrs180177113GRCh38Chr 16, 23629760: 23629761
7PALB2NM_024675.3(PALB2): c.2521delA (p.Thr841Glnfs)deletionPathogenicrs180177116GRCh38Chr 16, 23629269: 23629269
8PALB2NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs)deletionPathogenic, risk factorrs180177133GRCh38Chr 16, 23614089: 23614089
9PALB2NM_024675.3(PALB2): c.3323delA (p.Tyr1108Serfs)deletionPathogenicrs180177135GRCh38Chr 16, 23607891: 23607891
10PALB2NM_024675.3(PALB2): c.395delT (p.Val132Alafs)deletionPathogenicrs180177085GRCh38Chr 16, 23636151: 23636151
11PALB2NM_024675.3(PALB2): c.757_758delCT (p.Leu253Ilefs)deletionPathogenicrs180177092GRCh38Chr 16, 23635788: 23635789

Expression for genes affiliated with Fanconi Anemia, Complementation Group N

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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 N

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Pathways for genes affiliated with Fanconi Anemia, Complementation Group N

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Compounds for genes affiliated with Fanconi Anemia, Complementation Group N

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

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Products for genes affiliated with Fanconi Anemia, Complementation Group N

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fanconi Anemia, Complementation Group N

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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