Table 3.
Disease ontology analysis of genes with functionally damaging variants indicates increased risk of developing age-related diseases.
| Individual- 1 | Individual- 2 | Individual- 3 | |
|---|---|---|---|
| (13 years apart) | (16 years apart) | (9 years apart) | (15 years apart) |
| Diabetes mellitus (11) | Diabetes mellitus (31) | Long QT syndrome (2) | Adenovirus infection (3) |
| Leukemia (10) | Breast cancer (32) | Mental retardation (3) | |
| Kidney failure (5) | Prostate cancer (28) | ||
| Colon cancer (8) | Neoplasm metastasis (17) | ||
| Cancer (13) | Cancer (40) | ||
| Alzheimer's disease (6) | Rheumatoid arthritis (21) | ||
| Melanoma (14) | |||
| HIV infection (12) | |||
| Colon cancer (19) | |||
| Leukemia (20) | |||
| Chronic simple glaucoma (5) | |||
| Atherosclerosis (15) | |||
| Cirrhosis (6) | |||
A sub-set of genes, which contained predicted damaging variants (by Polyphen v2) were analyzed using Functional Disease Ontology Annotations (FunDO). The significance of each disease association is evaluated by Fisher's exact test, and diseases that showed Bonferroni corrected p-value <0.05 are considered as significant. Numbers in parenthesis indicates the number of genes associated with disease.