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: C0236665
Disease: Amphetamine withdrawal
Amphetamine withdrawal
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2017 2017
CUI: C4310789
Disease: THROMBOCYTOPENIA 6
THROMBOCYTOPENIA 6
disease Disease or Syndrome 1 1 0.700 strong 1.000 1 1 2016 2016
CUI: C4016406
Disease: COLON CANCER, ADVANCED, SOMATIC
COLON CANCER, ADVANCED, SOMATIC
disease Neoplastic Process 1 1 0.100 None 0 1
Advanced Cutaneous Melanoma of the Extremity
disease Neoplastic Process 2 0.010 None 1.000 1 2014 2014
CUI: C0018194
Disease: Giant Cell Granuloma
Giant Cell Granuloma
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Pathologic Function 4 0.010 None 1.000 1 2006 2006
CUI: C0406352
Disease: Acanthosis palmaris
Acanthosis palmaris
disease Disease or Syndrome 4 0.010 None < 0.001 1 1999 1999
CUI: C3645711
Disease: Congenital Osteopetrosis
Congenital Osteopetrosis
disease Musculoskeletal Diseases Disease or Syndrome 4 0.010 None 1.000 1 1993 1993
CUI: C0410653
Disease: Atlantoaxial instability
Atlantoaxial instability
disease Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C3809715
Disease: Spontaneous, recurrent epistaxis
Spontaneous, recurrent epistaxis
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Sign or Symptom 11 1 0.100 None 0
CUI: C1839783
Disease: Large forehead
Large forehead
phenotype Finding 14 1 0.100 None 0
CUI: C1367536
Disease: Nasopharyngeal Angiofibroma
Nasopharyngeal Angiofibroma
disease Neoplasms Neoplastic Process 17 0.010 None 1.000 1 2018 2018
CUI: C0677950
Disease: Stage IV Colorectal Cancer
Stage IV Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 19 2 0.010 None 1.000 1 2019 2019
CUI: C3146251
Disease: Stage IV Colorectal Cancer AJCC v7
Stage IV Colorectal Cancer AJCC v7
disease Neoplastic Process 19 2 0.010 None 1.000 1 2019 2019
CUI: C0008029
Disease: Cherubism
Cherubism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 22 6 0.010 None 1.000 1 2006 2006
CUI: C4745063
Disease: Biliary Tract Carcinoma
Biliary Tract Carcinoma
disease Neoplastic Process 25 1 0.010 None 1.000 1 2012 2012
CUI: C1860320
Disease: Bone marrow hypercellularity
Bone marrow hypercellularity
phenotype Finding 26 0.100 None 0
Philadelphia chromosome positive chronic myelogenous leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 27 3 0.010 None 1.000 1 2018 2018
CUI: C4048305
Disease: Neuroepithelioma
Neuroepithelioma
disease Neoplastic Process 28 0.010 None 1.000 1 1990 1990
Hereditary nonpolyposis colorectal carcinoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 28 5 0.100 None 0
Familial primary pulmonary hypertension
disease Respiratory Tract Diseases Disease or Syndrome 30 2 0.020 None 1.000 2 2015 2017
CUI: C0344460
Disease: Carcinoma ex pleomorphic adenoma
Carcinoma ex pleomorphic adenoma
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 30 2 0.010 None 1.000 1 2009 2009
CUI: C1266002
Disease: Non-small cell carcinoma
Non-small cell carcinoma
disease Neoplasms Neoplastic Process 33 0.010 None 1.000 1 2011 2011
Platinum-Resistant Ovarian Carcinoma
disease Neoplastic Process 41 0.010 None 1.000 1 2018 2018
CUI: C0334070
Disease: Maturation defect
Maturation defect
phenotype Acquired Abnormality 43 2 0.010 None 1.000 1 2004 2004
Generalized Thyroid Hormone Resistance
disease Endocrine System Diseases Disease or Syndrome 45 34 0.020 None 1.000 2 1998 2014