Gene

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
34	Neurofibromatosis;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;

Hepatocellular carcinoma 💬

[1] MET 💬

Cabozantinib 💬

Cabozantinib

[1] 34 💬

Hepatocellular carcinoma 💬

[1] MTOR 💬

Everolimus 💬

Everolimus

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

Hepatocellular carcinoma 💬

[1] MTOR 💬

Sirolimus 💬

Sirolimus

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Hepatocellular carcinoma 💬

[1] MTOR 💬

Temsirolimus 💬

Temsirolimus

[1] 13 💬

Hepatocellular carcinoma 💬

[1] NFE2L2 💬

Omaveloxolone 💬

Omaveloxolone

[1] 18 💬

Hepatocellular carcinoma 💬

[1] NQO1 💬

Warfarin 💬

Warfarin

[11] 6 , 8 , 13, 19, 46, 49, 66, 85, 86, 88, 91 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
19	Lysosomal storage disease;Lysosomal disease;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
88	Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism;
91	Budd-Chiari syndrome;BCS;

Hepatocellular carcinoma 💬

[1] PIK3CA 💬

Alpelisib 💬

Alpelisib

[1] 138 💬

Hepatocellular carcinoma 💬

[3] PIK3CA, PIK3CB, PIK3CD 💬

Name	Full Name
PIK3CA	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
PIK3CB	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta