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: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 291 5 0.100 None 0
CUI: C0017671
Disease: Glomus Jugulare Tumor
Glomus Jugulare Tumor 		disease Neoplasms Neoplastic Process 5 0.100 None 0
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 391 7 0.100 None 0
CUI: C4025626
Disease: Elevated urinary norepinephrine
Elevated urinary norepinephrine 		phenotype Finding 15 0.100 None 0
CUI: C0016382
Disease: Flushing
Flushing 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 83 9 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0
CUI: C0008031
Disease: Chest Pain
Chest Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 154 7 0.100 None 0
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.100 None 0
CUI: C4293708
Disease: Recurrent paroxysmal headache
Recurrent paroxysmal headache 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 16 0.100 None 0
CUI: C0003564
Disease: Aphonia
Aphonia 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 4 0.100 None 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 0
CUI: C0018965
Disease: Hematuria
Hematuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 235 31 0.100 None 0
CUI: C1868394
Disease: Elevated calcitonin
Elevated calcitonin 		phenotype Finding 17 0.100 None 0
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE 		phenotype Finding 64 0.100 None 0
CUI: C3808022
Disease: Episodic abdominal pain
Episodic abdominal pain 		phenotype Pathological Conditions, Signs and Symptoms Finding 39 3 0.100 None 0
CUI: C0003076
Disease: Aniridia
Aniridia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 83 29 0.100 None 0
CUI: C4022998
Disease: Arachnoid hemangiomatosis
Arachnoid hemangiomatosis 		phenotype Neoplasms Finding 15 0.100 None 0
CUI: C0027497
Disease: Nausea
Nausea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 161 14 0.100 None 0
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 157 9 0.100 None 0
CUI: C0019825
Disease: Hoarseness
Hoarseness 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 84 3 0.100 None 0
CUI: C4023099
Disease: Elevated urinary dopamine
Elevated urinary dopamine 		phenotype Finding 15 0.100 None 0
CUI: C4025594
Disease: Positive regitine blocking test
Positive regitine blocking test 		phenotype Finding 15 0.100 None 0
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 7 0.010 None 1.000 1 1997 1997
CUI: C1838261
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 4
DIABETES MELLITUS, INSULIN-DEPENDENT, 4 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 5 0.010 None 1.000 1 1997 1997
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 1999 1999