| | Disease name | Disease category |
| BC | H00031 | Breast cancer | Cancer |
| PROS | H02647 | Macrodactyly | Congenital malformation |
| H02153 | Megalencephaly-capillary malformation syndrome | Congenital malformation |
| H01912 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Congenital malformation |
| H02297 | CLAPO syndrome | Congenital malformation |
| H00534 | Cerebral cavernous malformation | Congenital malformation |
| H01222 | Cowden syndrome | Congenital malformation |
| MPPH1 | H01885 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | Congenital malformation |
| CWS6/PS | H01222 | Cowden syndrome | Congenital malformation |
| H02119 | Proteus syndrome | Congenital malformation |
| HIHGHH | H01909 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Inherited metabolic disorder |
| MPPH2 | H01885 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | Congenital malformation |
| CWS1/MAS | H01222 | Cowden syndrome | Congenital malformation |
| H02723 | Macrocephaly/autism syndrome | Congenital malformation |
| NEDLBA | H02632 | Houge-Janssens syndrome | Congenital malformation |
| MRD36 | H00773 | Autosomal dominant intellectual developmental disorder | Mental and behavioural disorder |
| SCA12 | H00773 | Autosomal dominant intellectual developmental disorder | Mental and behavioural disorder |
| SPGF36 | H01282 | Spermatogenic failure | Reproductive system disease |
| MRD35 | H02632 | Houge-Janssens syndrome | Congenital malformation |
| HJS4 | H02632 | Houge-Janssens syndrome | Congenital malformation |
| HDLS1 | H01807 | Hereditary diffuse leukoencephalopathy with spheroids | Neurodegenerative disease |
| AML | H00003 | Acute myeloid leukemia | Cancer |
| EN | H02627 | Epidermal nevus | Congenital malformation |
| MRD42 | H00773 | Autosomal dominant intellectual developmental disorder | Mental and behavioural disorder |
| IMD97 | H00093 | Combined immunodeficiency | Primary immunodeficiency |
| AOA3 | H00848 | Ataxia with ocular apraxia | Nervous system disease |
Network variation - PI3K signaling