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Table 1 Genetic loci associated with disease and phenotypic variation

From: Genetic determinants of phenotypic diversity in humans

Disease type Disease Associated loci Date of publication Reference
Cancer Acute lymphoblastic leukemia PAX5 and others 12 April 2007 [40]
  Breast cancer FGFR2, TNCR9, MAP3K1, LSP and others 27 May 2007 [41]
  Colon, prostate cancer 8q24 8 July 2007 [42-44]
  Colorectal cancer SMAD7 14 October 2007 [45]
   CRAC1 (HMPS) 16 December 2007 [46]
  Multiple solid tumors CASP8 22 April 2007 [47]
  Prostate cancer 8q24 1 April 2007 [48,49]
   TCF2; 17p 1 July 2007 [50]
   2p15, Xp11.22 and multiple others 10 February 2008 [51-53]
Heart Myocardial infarction, coronary artery disease, intracranial aneurysm 9p21 6 January 2008 [26]
   9p21 3 May 2007 [26,54]
   6q25, 2q36 18 July 2007 [28]
  Atrial fibrillation 4q25 1 July 2007 [55]
Metabolic Celiac disease IL-2, IL-21 10 June 2007 [56]
  Diabetes, type 1 12q24 and others 6 June 2007 [57]
   KIAA0350 15 July 2007 [37]
   IL2RA 5 August 2007 [58]
  Diabetes, type 2 CDKAL1 and six others 26 April 2007 [59,60]
   WFS1 1 July 2007 [61]
  Gout SLCA9 9 March 2008 [23,24]
  Hypercholesterolemia CELSR2 9 February 2008 [62]
  Lipoprotein disorders MLX1PL and multiple others 13 January 2008 [32,62,63]
  Obesity FTO 12 April 2007 [31]
Neurodegenerative Amyotrophic lateral sclerosis FLJ10986 1 August 2007 [64]
   DPP6 16 December 2007 [65]
  Multiple sclerosis IL7Rα, IL2Rα 28 July 2007 [66-68]
Immune mediated Ankylosing spondylitis ARTS1, IL23R 21 October 2007 [69]
  Autoimmune thyroid disease TSHR, FCRL3 21 October 2007 [69]
  Rheumatoid arthritis 6p21, 1p13 7 June 2007 [22]
   TRAF1-C5 31 August 2007 [70]
   6q23 4 Nov 2007 [71,72]
  Systemic lupus erythematosus TNFSF4 2 December 2007 [73]
   PXK, KIAA1542, BANK1, C8orf-BLK, ITGAM 20 January 2008 [74-77]
  Age-related macular degeneration C3 18 July 2007 [78]
  Celiac disease IL-2, IL-21 10 June 2007 [56]
Other Asthma (childhood) ORMDL3 4 July 2007 [79]
  Bipolar disorder 16p12 7 June 2007 [22]
  Crohn's disease IRGM 6 June 2007 [80]
   ILR23 26 October 2006 [81]
   IBD5 October 2001 [82]
   ATG16L1 15 April 2007 [83,84]
   5p13.1 5 March 2007 [85]
   NOD2 16 June 2001 [86]
  Gallstone disease ABCG8 15 July 2007 [87]
  Glaucoma LOXL1 9 August 2007 [88]
  HIV host control HLA-B*5701 19 July 2007 [89]
  Psoriasis β-Defensin, CNV 2 December 2007 [90]
  Restless leg syndrome MEIS1, BTBD9, MAP2K5 18 July 2007 [91]