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: C1868393
Disease: Elevated urinary epinephrine
Elevated urinary epinephrine
phenotype Finding 14 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: 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: C4025626
Disease: Elevated urinary norepinephrine
Elevated urinary norepinephrine
phenotype Finding 15 0.100 None 0
CUI: C0027769
Disease: Nervousness
Nervousness
phenotype Behavior and Behavior Mechanisms Sign or Symptom 6 12 0.100 None 1.000 1 1 2018 2018
CUI: C1387805
Disease: Episodic paroxysmal anxiety
Episodic paroxysmal anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 14 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: C0003076
Disease: Aniridia
Aniridia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 83 29 0.100 None 0
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 247 176 0.010 None 1.000 1 2005 2005
CUI: C0266483
Disease: Pachygyria
Pachygyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 129 8 0.010 None 1.000 1 2019 2019
CUI: C0152132
Disease: Hypertensive Retinopathy
Hypertensive Retinopathy
disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 24 2 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: 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: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2019 2019
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 430 96 0.010 None 1.000 1 2019 2019
CUI: C0086769
Disease: Panic Attacks
Panic Attacks
disease Mental Disorders Mental or Behavioral Dysfunction 59 3 0.100 None 0
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.100 None 1.000 1 7 2017 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 1 2019 2019
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
disease Neoplasms Neoplastic Process 165 36 0.110 None 1.000 1 2019 2019
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease Neoplasms Neoplastic Process 344 186 0.110 None 1.000 1 2019 2019
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal
disease Neoplasms Neoplastic Process 38 5 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: C4022998
Disease: Arachnoid hemangiomatosis
Arachnoid hemangiomatosis
phenotype Neoplasms Finding 15 0.100 None 0