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: C0549523
Disease: Oropharynx (excludes nasopharynx)
Oropharynx (excludes nasopharynx) 		disease Disease or Syndrome 94 5 0.010 None 1.000 1 2020 2020
CUI: C1333071
Disease: Chordoma of clivus
Chordoma of clivus 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 3 0.010 None 1.000 1 2020 2020
CUI: C0009806
Disease: Constipation
Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 424 57 0.010 None 1.000 1 2020 2020
CUI: C0748968
Disease: Moderately differentiated squamous cell carcinoma
Moderately differentiated squamous cell carcinoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2020 2020
CUI: C1527390
Disease: Neoplasms, Intracranial
Neoplasms, Intracranial 		group Neoplasms; Nervous System Diseases Neoplastic Process 157 4 0.010 None 1.000 1 2020 2020
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.010 None 1.000 1 2020 2020
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.130 None 0.667 3 1 2019 2019
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1370 20 0.010 None 1.000 1 2019 2019
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.010 None 1.000 1 2019 2019
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 473 37 0.110 None 1.000 1 1 2019 2019
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.010 None 1.000 1 2019 2019
CUI: C0206695
Disease: Carcinoma, Neuroendocrine
Carcinoma, Neuroendocrine 		disease Neoplasms Neoplastic Process 182 7 0.010 None 1.000 1 2019 2019
CUI: C0855040
Disease: Epithelioid sarcoma non-metastatic
Epithelioid sarcoma non-metastatic 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2019 2019
CUI: C1334271
Disease: Intraventricular Meningioma
Intraventricular Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 16 0.010 None 1.000 1 2019 2019
CUI: C0333516
Disease: Tumor necrosis
Tumor necrosis 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 350 1 0.010 None 1.000 1 2019 2019
CUI: C2987252
Disease: Esophageal Spindle Cell Carcinoma
Esophageal Spindle Cell Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 15 0.010 None 1.000 1 2019 2019
CUI: C1334358
Disease: Lacrimal Gland Carcinoma
Lacrimal Gland Carcinoma 		disease Neoplastic Process 2 0.010 None < 0.001 1 2019 2019
CUI: C0206717
Disease: Olfactory Neuroblastoma
Olfactory Neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 38 0.010 None 1.000 1 2019 2019
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated 		disease Neoplasms Neoplastic Process 95 0.010 None 1.000 1 2019 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.010 None 1.000 1 2019 2019
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 420 12 0.010 None < 0.001 1 2019 2019
CUI: C0334121
Disease: Inflammatory Myofibroblastic Tumor
Inflammatory Myofibroblastic Tumor 		disease Pathological Conditions, Signs and Symptoms Neoplastic Process 92 2 0.010 None 1.000 1 2019 2019
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 75 16 0.010 None 1.000 1 2019 2019
CUI: C1265996
Disease: Large cell neuroendocrine carcinoma
Large cell neuroendocrine carcinoma 		disease Neoplasms Neoplastic Process 91 3 0.010 None 1.000 1 2019 2019
CUI: C0275524
Disease: Coinfection
Coinfection 		phenotype Infections Disease or Syndrome 252 11 0.010 None < 0.001 1 2019 2019