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: C0549493
Disease: Alveolitis
Alveolitis 		disease Skin and Connective Tissue Diseases; Respiratory Tract Diseases Disease or Syndrome 63 0.010 None 1.000 1 2018 2018
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 118 20 0.010 None 1.000 1 2000 2000
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 11 0.010 None 1.000 1 2006 2006
CUI: C1846343
Disease: Bartter syndrome, type 3
Bartter syndrome, type 3 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 9 10 0.010 None 1.000 1 2000 2000
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2019 2019
CUI: C0085581
Disease: Restrictive lung disease
Restrictive lung disease 		disease Respiratory Tract Diseases Disease or Syndrome 13 0.010 None 1.000 1 1998 1998
CUI: C0032584
Disease: polyps
polyps 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 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 2013 2013
CUI: C0042963
Disease: Vomiting
Vomiting 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 303 23 0.010 None 1.000 1 2018 2018
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		disease Male Urogenital Diseases Disease or Syndrome 770 91 0.010 None 1.000 1 2019 2019
CUI: C0745744
Disease: End Stage Liver Disease
End Stage Liver Disease 		disease Digestive System Diseases Disease or Syndrome 80 3 0.010 None 1.000 1 2017 2017
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 37 0.010 None 1.000 1 2019 2019
CUI: C0156147
Disease: Crohn's disease of large bowel
Crohn's disease of large bowel 		disease Digestive System Diseases Disease or Syndrome 96 1 0.010 None 1.000 1 2003 2003
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		group Respiratory Tract Diseases Disease or Syndrome 319 144 0.010 None 1.000 1 2013 2013
CUI: C0398794
Disease: Hypopigmentation-immunodeficiency disease
Hypopigmentation-immunodeficiency disease 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 14 3 0.010 None 1.000 1 2006 2006
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2018 2018
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 117 13 0.010 None 1.000 1 2019 2019
CUI: C3484357
Disease: HERMANSKY-PUDLAK SYNDROME 4
HERMANSKY-PUDLAK SYNDROME 4 		disease Disease or Syndrome 2 9 0.010 None 1.000 1 2018 2018
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 41 14 0.010 None 1.000 1 1999 1999
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2018 2018
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2006 2006
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 47 8 0.010 None 1.000 1 2000 2000
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.010 None 1.000 1 2009 2009
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 803 63 0.010 None 1.000 1 2016 2016
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 2019 2019