International Journal of Genomics / 2009 / Article / Tab 4 / Review Article
A Pattern Analysis of Gene Conversion Literature Table 4 Gene Conversion Diseases/Disorders Part 1.
Disease/Disorder Gene 1 Gene 2 Pseudogene? Papers Phenylketunoria (PKU) N/A N/A N/A 1 Huntington’s Disease N/A N/A N/A 3 Thalassemia IVS-2 N/A N/A 1 APRT Deficiency APRT N/A N/A 1 Congenital Adrenal Hyperplasia/Hydroxylase Deficiency CYP21 CYP21P Yes (CYP21P) 77 Hereditary Persistence of Fetal Hemoglobin protein S alpha protein S beta No 3 Debrisoquine polymorphism CYPD6 CYPD7 (CYPD6*2) No 3 Sickle Cell Anemia A Gamma G Gamma No 4 Gaucher’s Disease GBA psGBA Yes (psGBA) 6 Thrombocytopenia HLA Class II N/A N/A 1 Haemoglobin H Disease N/A N/A N/A 1 Rheumatalogic Disease HLA complex N/A N/A 1 Beta Thallasemia Beta-Globin Locus N/A N/A 3 Blue Cone Monochromacy RCP GCP No 2 K36.16 thymoma N/A N/A N/A 1 Rheumatoid Arthritis DR4 N/A N/A 1 Spinal Muscular Atrophy SMN SMNtel No 16 Hypertension CYP11B2 CYP11B1 No 3 Chronic Myeloid Leukaemia (CML) ABL N/A N/A 1 Fragile X Syndrome FMR1 FMRa/FRAXAC2 No 5 Homocysturnia CBS N/A N/A 1 Von Willebrand Disease VWF N/A Yes 5 Myotonic Dystrophy N/A N/A N/A 3 Myeloma GAU Hyprid Alpha N/A N/A 1 Human Complement C4A Deficiency C4A C4B No 1 Neurofibriomatosis Type 1 (NF1) NF1 NF1 pseudogene Yes 3 Colorectal Cancer APRT N/A N/A 2 Carbonic anhydrase II deficiency CA II N/A N/A 1 Fanconic Anemia FAC N/A N/A 2 Mucopolysaccharidosis type I Hurler/Scheie alpha-L-iduronidase N/A N/A 1
In this table we list the diseases and disorders associated with gene conversions. In addition, we list the genes involved where applicable (listed here as Gene 1 and Gene 2) as well as whether one was a pseudogene (and listing which is if this information was available). Finally, we list the number of abstracts that dealt with the disease/disorder.