Table 3.
ClinVar Disease Pathway | Disease Phenotype | p Value |
---|---|---|
Leigh Syndrome | Neurological disease | 0.0027 |
Familial Partial Lipodystrophy | Metabolic disease | 0.0299 |
Pyruvate Dehydrogenase Complex Deficiency | 0.0299 | |
Mitochondrial DNA Deletion Syndrome | 0.0474 | |
Autoimmune Lymphoproliferative Syndrome | Autoimmune disease | 0.0358 |