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: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 504 30 0.080 None 1.000 8 2015 2019
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.040 None 1.000 4 2017 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.040 None 1.000 4 2018 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 2002 2017
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 456 65 0.030 None 1.000 3 2015 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.030 None 1.000 3 2012 2019
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 349 50 0.030 None 1.000 3 2015 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.030 None 1.000 3 2012 2019
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 0.020 None 1.000 2 2019 2019
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		disease Neoplasms Neoplastic Process 1543 348 0.020 None 1.000 2 2000 2004
CUI: C0333875
Disease: High-Grade Squamous Intraepithelial Lesions
High-Grade Squamous Intraepithelial Lesions 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 150 8 0.010 None 1.000 1 2019 2019
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 31 3 0.010 None 1.000 1 2019 2019
CUI: C0686377
Disease: CNS metastases
CNS metastases 		phenotype Neoplasms; Nervous System Diseases Neoplastic Process 102 14 0.010 None 1.000 1 2019 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2020 2020
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 317 32 0.010 None 1.000 1 2017 2017
CUI: C1710095
Disease: paranasal sinus and nasal cavity cancer
paranasal sinus and nasal cavity cancer 		disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2008 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2013 2013
CUI: C2242814
Disease: acute sore throat
acute sore throat 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2017 2017
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.010 None 1.000 1 2017 2017
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 28 0.010 None 1.000 1 2020 2020
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 2017 2017
CUI: C4045991
Disease: Perihilar Cholangiocarcinoma
Perihilar Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 41 0.010 None 1.000 1 2018 2018
CUI: C0276535
Disease: AIDS with Kaposi's sarcoma
AIDS with Kaposi's sarcoma 		disease Neoplasms; Infections; Immune System Diseases Neoplastic Process 33 0.010 None 1.000 1 2020 2020
CUI: C0242429
Disease: Sore Throat
Sore Throat 		phenotype Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Sign or Symptom 18 2 0.010 None 1.000 1 2017 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.010 None 1.000 1 2014 2014