Source: BEFREE ×
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: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		disease Male Urogenital Diseases Congenital Abnormality 27 28 0.010 None 1.000 1 2002 2002
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 509 12 0.010 None 1.000 1 2009 2009
CUI: C0278987
Disease: Metastatic non-small cell lung cancer
Metastatic non-small cell lung cancer 		disease Neoplasms Neoplastic Process 106 11 0.010 None 1.000 1 2019 2019
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma 		disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 2014 2014
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 150 6 0.010 None 1.000 1 2020 2020
CUI: C0268397
Disease: Amyloidosis, Primary Cutaneous
Amyloidosis, Primary Cutaneous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 9 10 0.010 None 1.000 1 2016 2016
CUI: C0267952
Disease: Fibrosis of pancreas
Fibrosis of pancreas 		disease Digestive System Diseases Disease or Syndrome 53 0.010 None 1.000 1 1999 1999
CUI: C0266913
Disease: Hyperplastic gingivitis
Hyperplastic gingivitis 		disease Stomatognathic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 56 3 0.010 None 1.000 1 2019 2019
CUI: C0265979
Disease: Fibrous Hamartoma of Infancy
Fibrous Hamartoma of Infancy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 3 0.010 None 1.000 1 2018 2018
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2010 2010
CUI: C0242670
Disease: Persistent Vegetative State
Persistent Vegetative State 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 15 0.010 None 1.000 1 2018 2018
CUI: C0238790
Disease: bone destruction
bone destruction 		disease Disease or Syndrome 234 3 0.010 None 1.000 1 2004 2004
CUI: C0235753
Disease: Congenital hemangioma
Congenital hemangioma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Neoplastic Process 5 0.010 None 1.000 1 2008 2008
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 407 90 0.010 None 1.000 1 2017 2017
CUI: C0279637
Disease: Anal carcinoma
Anal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 41 0.010 None 1.000 1 2018 2018
CUI: C0279681
Disease: Bladder Squamous Cell Carcinoma
Bladder Squamous Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 13 0.010 None < 0.001 1 2013 2013
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2274 203 0.010 None 1.000 1 2017 2017
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans 		disease Neoplasms Neoplastic Process 78 0.010 None 1.000 1 2018 2018
CUI: C0376618
Disease: Endotoxemia
Endotoxemia 		phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 332 5 0.010 None 1.000 1 2018 2018
CUI: C0376544
Disease: Hematopoietic Neoplasms
Hematopoietic Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 320 2 0.010 None 1.000 1 2019 2019
CUI: C0346957
Disease: Disseminated Malignant Neoplasm
Disseminated Malignant Neoplasm 		phenotype Neoplasms Neoplastic Process 232 4 0.010 None 1.000 1 2017 2017
CUI: C0345958
Disease: Large cell carcinoma of lung
Large cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 36 0.010 None 1.000 1 1992 1992
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1459 269 0.010 None 1.000 1 2009 2009
CUI: C0340968
Disease: Deficiency of pyruvate kinase
Deficiency of pyruvate kinase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 10 4 0.010 None 1.000 1 2001 2001