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| Bones |
Multiple Exotoses Ossification at tips of femur, pelvis, or ribs (EXT1 gene) |
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| Blood |
Leukemia chronic myelogenosleukemia, a cancer of the blood (ABL1 gene) |
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Bruton Agammaglobulinemia lack of mature B cells (BTK gene) |
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G6PD Deficiency drug- and stress-induced rupture of red blood cells (G6PD gene) |
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| Brain |
Early-Onset Alzheimer Disease (PS1 gene) |
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Fragile X Syndrome common cause of mental retardation (FMR1 gene) |
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Juvenile Parkinson Disease (PARK2 gene) |
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| Colon |
Hereditary Nonpolyposis Cancer (MSH2 gene) |
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Adenomatous Polyposis polyps that become malignant (APC gene) |
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| Ears |
Hereditary Deafness (MYO15 gene) |
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| Eyes |
Retinoblastoma cancer of the eye (RB1 gene) |
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| Heart |
Familial Cardiac Myopathy inherited cardiac disease (MYH7 gene) |
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Long QT Syndrome sometimes fatal cardiac arrhythmias (3-SCN5A gene) |
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| Kidney |
Polycystic Kidney Disease 2 (PKD2 gene) |
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| Liver |
Wilson Disease buildup of copper in cells, causing liver disease and other symptoms (ATP7B gene) |
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| Lung |
Cystic Fibrosis progressive disease of lungs and pancreas (CFTR gene) |
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Lung Cancer caused by defects in P53 gene, which can also cause cancer of esophagus, colon, brain, lung, breast, and skin (P53 gene) |
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| Muscles |
Duchenne Muscular Dystrophy progressive atrophy of muscles (DMD gene) |
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| Pancreas |
Pancreatic Cancer (MADH4 gene) |
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Pancreatic Cancer (RAS gene) |
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| Prostate |
Advanced Cancer of the Prostate caused by mutations in PTEN gene, which can also cause cancer of brain, endometrium, and breast (PTEN gene) |
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| Skin |
Xeroderma Pigmentosum D early-onset skin cancer (XPD gene) |
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Neurofibromatosis 1 soft tumors at many sites, plus skeletal and neurologic defects (NF1 gene) |
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| Thyroid |
Cancer of the Thyroid multiple endocrine neoplasia type 2 (MEN2 gene) |
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