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.
Respiratory Distress Syndrome, Adult
disease Respiratory Tract Diseases Disease or Syndrome 434 60 0.300 None 1.000 1 2014 2014
Platelet Component Distribution Width Measurement
phenotype Laboratory Procedure 134 200 0.100 None 1.000 1 1 2016 2016
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2016 2016
CUI: C0521670
Disease: Cranial nerve compression
Cranial nerve compression
disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 19 0.100 None 0
CUI: C1387805
Disease: Episodic paroxysmal anxiety
Episodic paroxysmal anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 14 0.100 None 0
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
disease Neoplasms Neoplastic Process 19 7 0.100 None 0
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal
disease Neoplasms Neoplastic Process 38 5 0.100 None 0
CUI: C0751559
Disease: Pulsatile Tinnitus
Pulsatile Tinnitus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 23 0.100 None 0
CUI: C0178664
Disease: Glomerulosclerosis (disorder)
Glomerulosclerosis (disorder)
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 221 3 0.100 None 0
CUI: C0522357
Disease: Vertigo, Paroxysmal
Vertigo, Paroxysmal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 16 0.100 None 0
CUI: C0730303
Disease: Capillary hemangioma of retina
Capillary hemangioma of retina
disease Neoplasms; Cardiovascular Diseases Neoplastic Process 15 1 0.100 None 0
CUI: C1527344
Disease: Dysphonia
Dysphonia
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Mental or Behavioral Dysfunction 77 4 0.100 None 0
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.100 None 0
CUI: C1868393
Disease: Elevated urinary epinephrine
Elevated urinary epinephrine
phenotype Finding 14 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
Elevated circulating catecholamine level
phenotype Finding 3 0.100 None 0
CUI: C4025626
Disease: Elevated urinary norepinephrine
Elevated urinary norepinephrine
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: C4023099
Disease: Elevated urinary dopamine
Elevated urinary dopamine
phenotype Finding 15 0.100 None 0
CUI: C4022998
Disease: Arachnoid hemangiomatosis
Arachnoid hemangiomatosis
phenotype Neoplasms Finding 15 0.100 None 0
CUI: C1857171
Disease: Episodic hyperhidrosis
Episodic hyperhidrosis
phenotype Skin and Connective Tissue Diseases Finding 20 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: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE
phenotype Finding 64 0.100 None 0
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 122 78 0.100 None 0