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: C0028841
Disease: Ocular Hypotension
Ocular Hypotension 		disease Eye Diseases Disease or Syndrome 22 1 0.010 None 1.000 1 2012 2012
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		disease Neoplasms; Eye Diseases Neoplastic Process 376 22 0.010 None 1.000 1 2019 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2019 2019
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 58 146 0.010 None 1.000 1 2017 2017
CUI: C0338908
Disease: Mixed anxiety and depressive disorder
Mixed anxiety and depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 146 13 0.010 None 1.000 1 2019 2019
CUI: C0349251
Disease: Behavioral syndrome associated with physiological disturbance and physical factors
Behavioral syndrome associated with physiological disturbance and physical factors 		disease Mental Disorders Mental or Behavioral Dysfunction 8 2 0.010 None 1.000 1 2019 2019
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 117 12 0.010 None 1.000 1 2017 2017
CUI: C0423319
Disease: Atrophic iris
Atrophic iris 		disease Eye Diseases Disease or Syndrome 9 0.010 None 1.000 1 2002 2002
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2019 2019
CUI: C0427032
Disease: Ankle stiff
Ankle stiff 		phenotype Sign or Symptom 2 0.010 None 1.000 1 2020 2020
CUI: C0156259
Disease: Hypertrophy of kidney
Hypertrophy of kidney 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 0.010 None 1.000 1 2018 2018
CUI: C0154823
Disease: Retinal defect
Retinal defect 		phenotype Eye Diseases Anatomical Abnormality 13 0.010 None 1.000 1 2017 2017
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.010 None < 0.001 1 2002 2002
CUI: C0031099
Disease: Periodontitis
Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 682 116 0.010 None 1.000 1 2020 2020
CUI: C0032285
Disease: Pneumonia
Pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.010 None 1.000 1 2019 2019
CUI: C0034902
Disease: Pure Red-Cell Aplasia
Pure Red-Cell Aplasia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 49 7 0.010 None 1.000 1 2018 2018
CUI: C0035455
Disease: Rhinitis
Rhinitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 178 20 0.010 None 1.000 1 2017 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.010 None 1.000 1 2012 2012
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.010 None 1.000 1 2017 2017
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.010 None 1.000 1 2018 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2019 2019
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 484 110 0.010 None 1.000 1 2017 2017
CUI: C0595936
Disease: Aqueous Humor Disorders
Aqueous Humor Disorders 		disease Eye Diseases Disease or Syndrome 85 1 0.010 None 1.000 1 2014 2014
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		phenotype Disease or Syndrome 328 0.010 None 1.000 1 2018 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2003 2003