Variants in disease predisposition

Articles

• PALB2
  23 February 2007

  Definition: PALB2 was identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood malignancies.
  PALB2 co-localizes with BRCA2 (MIM.600185) in nuclear foci, promotes its localization and stability in nuclear structures, and enables its recombinational repair and checkpoint functions. PALB2 is a nuclear binding partner of BRCA2.
  Pathology
  Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and (...)

• KALRN
  29 April 2007

  kalirin

• HLA-B*51
  11 January 2013

  Pathology
  Genome-wide association analysis identifies new susceptibility loci for Behçet’s disease and epistasis between HLA-B*51 and ERAP1. doi:10.1038/ng.2520

• PRPH1
  19 March 2005

  peripherin-1

• NCSTN
  14 May 2008

  Nicastrin is a type-1 transmembrane glycoprotein that forms high molecular mass gamma-secretase complexes with presenilin-1 (PSEN1) (MIM.104311) and presenilin-2 (PSEN2) (MIM.600759) that are necessary for the endoproteolysis of several type-1 transmembrane proteins, including beta-amyloid precursor protein (beta-APP) (MIM.104760) and Notch receptor (MIM.190198).
  References
  Helisalmi, S.; Dermaut, B.; Hiltunen, M.; Mannermaa, A.; Van den Broeck, M.; Lehtovirta, M.; Koivisto, A. M.; (...)

• FGF20
  2 May 2008

  Pathology
  Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein (#18252210#)
  References
  Wang G, van der Walt JM, Mayhew G, Li YJ, Züchner S, Scott WK, Martin ER, Vance JM. Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein. Am J Hum Genet. 2008 Feb;82(2):283-9. PMID: (...)

• DCTN1
  22 January 2006

  dynactin-1, homolog of drosophila p150 (GLUED)

• IRF5
  21 February 2005

  interferon regulatory factor 5

• NEFH
  19 March 2005

  neurofilament protein heavy polypeptide, NFH

• ABCC11
  11 February 2006

  Pathology
  A SNP in the ABCC11 gene is the determinant of human earwax type (#16444273#)
  ABCC11/MRP8 confers pemetrexed resistance in lung cancer. (#20718756#)
  A functional ABCC11 allele is essential in the biochemical formation of human axillary odor. (#19710689#)
  A SNP in the ABCC11 gene is the determinant of human earwax type. (#16444273#)
  A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene. (#19650936#) See also (...)

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