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: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 477 75 0.010 None 1.000 1 2019 2019
CUI: C0279068
Disease: Childhood Solid Neoplasm
Childhood Solid Neoplasm 		phenotype Neoplastic Process 169 3 0.010 None 1.000 1 2017 2017
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		disease Neoplasms Neoplastic Process 747 117 0.010 None 1.000 1 2002 2002
CUI: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma 		disease Neoplasms Neoplastic Process 38 6 0.010 None 1.000 1 2018 2018
CUI: C0278652
Disease: Childhood Craniopharyngioma
Childhood Craniopharyngioma 		disease Neoplasms Neoplastic Process 38 6 0.010 None 1.000 1 2018 2018
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 28 8 0.010 None 1.000 1 2019 2019
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 17 17 0.010 None 1.000 1 1991 1991
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 33 19 0.010 None 1.000 1 2020 2020
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 21 1 0.010 None 1.000 1 2001 2001
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		disease Male Urogenital Diseases; Mental Disorders Disease or Syndrome 177 25 0.010 None 1.000 1 2017 2017
CUI: C0235592
Disease: Cervical lymphadenopathy
Cervical lymphadenopathy 		disease Hemic and Lymphatic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2019 2019
CUI: C0231796
Disease: respiratory abnormalities
respiratory abnormalities 		phenotype Respiratory Tract Diseases Sign or Symptom 7 1 0.010 None 1.000 1 2019 2019
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2021 320 0.010 None 1.000 1 2018 2018
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 2019 2019
CUI: C0280099
Disease: Adult Solid Neoplasm
Adult Solid Neoplasm 		group Neoplastic Process 163 3 0.010 None 1.000 1 2017 2017
CUI: C0431366
Disease: Congenital malformation of corpus callosum
Congenital malformation of corpus callosum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 9 0.010 None 1.000 1 2018 2018
CUI: C0409952
Disease: Idiopathic osteoarthritis
Idiopathic osteoarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 63 12 0.010 None 1.000 1 2006 2006
CUI: C0376620
Disease: Pouchitis
Pouchitis 		disease Digestive System Diseases Disease or Syndrome 37 10 0.010 None 1.000 1 2019 2019
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 820 47 0.010 None 1.000 1 1997 1997
CUI: C0348374
Disease: Malignant Central Nervous System Neoplasm
Malignant Central Nervous System Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 19 0.010 None 1.000 1 2018 2018
CUI: C0346627
Disease: Intestinal Cancer
Intestinal Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 81 0.010 None 1.000 1 2017 2017
CUI: C0342953
Disease: Organ dysfunction syndrome
Organ dysfunction syndrome 		disease Disease or Syndrome 17 6 0.010 None 1.000 1 2017 2017
CUI: C0338078
Disease: Non-Functioning Pituitary Gland Neoplasm
Non-Functioning Pituitary Gland Neoplasm 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 53 2 0.010 None 1.000 1 2019 2019
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 106 33 0.010 None 1.000 1 2013 2013
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1873 266 0.010 None 1.000 1 2019 2019