Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.100 None 0 1
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.310 None 1.000 1 2019 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.300 None 1.000 1 2006 2006
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 0.300 None 1.000 1 2013 2013
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 0.300 None 1.000 1 2013 2013
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 312 119 0.300 None 1.000 1 2006 2006
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.300 None 1.000 1 2006 2006
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 59 14 0.110 None 1.000 1 2013 2013
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 2013 2013
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 2013 2013
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
Meningioma, benign, no ICD-O subtype 		disease Neoplasms; Nervous System Diseases Neoplastic Process 404 30 0.010 None 1.000 1 2018 2018
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		disease Neoplasms Neoplastic Process 504 42 0.010 None 1.000 1 2019 2019
CUI: C1827293
Disease: Carcinoma of urinary bladder, invasive
Carcinoma of urinary bladder, invasive 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 287 14 0.010 None 1.000 1 2013 2013
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.010 None < 0.001 1 2017 2017
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30 0.010 None 1.000 1 2018 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.010 None 1.000 1 2013 2013
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.010 None 1.000 1 2011 2011
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2014 2014
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.010 None 1.000 1 2013 2013
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 208 93 0.010 None 1.000 1 2019 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1143 75 0.010 None 1.000 1 2018 2018
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2016 2016
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2018 2018
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None 1.000 1 2013 2013
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2013 2013