Table 7.
Human diseases and yeast phenotypic changes that co-occur at domain sites
| Human Disease | Yeast Phenotypic Change | Number of Co-occurrences |
|---|---|---|
| Wilson's disease (WD) (OMIM:277900) | Gain of function; metal resistance: increased (PMID: 10743563) | 6 (p-value: 2e-14) |
| Hereditary non-polyposis colorectal cancer type 2 (OMIM:609310) | Mutation frequency: increased (PMID: 16492773) | 5 (p-value: 1e-13) |
| Susceptibility to Breast-Ovarian Cancer, Familial (OMIM:604370) | Reduction of function; protein/peptide accumulation: increased (PMID: 10218484) | 4 (p-value: 4e-11) |
| Nemaline myopathy type 3 (OMIM: 161800) | Conditional; protein/peptide modification: absent (PMID: 16221887) | 4 (p-value: 4e-11) |
| Familial hyperinsulinemic hypoglycemia type 1 (OMIM: 256450) | Reduction of function; replicative lifespan: decreased (PMID: 21931558) | 8 (p-value: 1e-10) |
| Costello syndrome (OMIM:190020) | Inviable (PMID:17443350) | 6 (p-value: 1e-09) |
| Methemoglobinemia, type 1 (OMIM:250800) | Reduction of function; heat sensitivity: increased (PMID: 19194512) | 4 (p-value: 8e-09) |
| Crouzon syndrome (OMIM: 123500) | Resistance to chemicals: decreased (PMID: 17237519) | 6 (p-value: 8e-09) |
| Kallman syndrome 2 with bimanual synkinesia (OMIM: 136350) | Resistance to chemicals: increased (PMID: 1715094) | 4 (p-value: 4e-08) |
| Friedreich Ataxia (OMIM: 229300) | Protein activity: decreased (PMID: 19884169) | 3 (p-value: 1e-06) |
The top ten yeast phenotypic changes and human diseases that have a significant overlap at the domain level as determined by Fisher's exact test. Each disease co-occurrence is counted only once for each uniquely mapping mutation to avoid overestimation due to domain model redundancy.