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.
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1 3 0.720 moderate 1.000 6 3 2004 2019
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
disease Disease or Syndrome 1 2 0.710 None 1.000 3 2 2013 2018
CUI: C0004331
Disease: Auriculo-Ventricular Dissociation
Auriculo-Ventricular Dissociation
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 4 0.300 None 1.000 1 2016 2016
CUI: C0264641
Disease: Endocrine hypertension
Endocrine hypertension
disease Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2013 2013
AV Block Second Degree by ECG Finding
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 4 0.100 None 0
CUI: C4023501
Disease: Focal myoclonic seizures
Focal myoclonic seizures
disease Nervous System Diseases Disease or Syndrome 4 0.100 None 0
Second degree atrioventricular block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 5 1 0.100 None 0
CUI: C4021038
Disease: Abnormal circulating renin
Abnormal circulating renin
disease Finding 5 1 0.100 None 0
CUI: C1845206
Disease: Decreased circulating renin level
Decreased circulating renin level
phenotype Finding 9 1 0.100 None 0
EMG: impaired neuromuscular transmission
phenotype Finding 11 0.100 None 0
CUI: C3713420
Disease: Familial Hyperaldosteronism
Familial Hyperaldosteronism
disease Endocrine System Diseases Disease or Syndrome 15 0.030 None 1.000 3 2015 2019
Sleep Initiation and Maintenance Disorders
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 15 26 0.100 None 1.000 1 1 2018 2018
CUI: C0086395
Disease: Hearing Loss, Extreme
Hearing Loss, Extreme
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 20 0.300 None 1.000 1 2004 2004
CUI: C0581883
Disease: Complete Hearing Loss
Complete Hearing Loss
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 20 0.300 None 1.000 1 2004 2004
CUI: C0751068
Disease: Deafness, Acquired
Deafness, Acquired
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 20 0.300 None 1.000 1 2004 2004
CUI: C3665473
Disease: Bilateral Deafness
Bilateral Deafness
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 20 0.300 None 1.000 1 2004 2004
CUI: C4082305
Disease: Deaf Mutism
Deaf Mutism
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 20 0.300 None 1.000 1 2004 2004
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 22 2 0.300 None 1.000 1 2004 2004
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 27 5 0.100 None 0
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction
disease Anatomical Abnormality 28 31 0.100 None 1.000 1 1 2013 2013
CUI: C0013386
Disease: Dyskinesia, Drug-Induced
Dyskinesia, Drug-Induced
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 32 0.200 None 1.000 1 2009 2009
CUI: C1621895
Disease: Adrenal hyperplasia
Adrenal hyperplasia
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Endocrine System Diseases Disease or Syndrome 33 0.100 None 0
CUI: C0205649
Disease: Adenoma, Monomorphic
Adenoma, Monomorphic
disease Neoplasms Neoplastic Process 36 0.300 None 1.000 2 2013 2013
CUI: C0018810
Disease: heart rate
heart rate
phenotype Clinical Attribute 36 103 0.100 None 1.000 1 1 2013 2013
CUI: C0205651
Disease: Adenoma, Trabecular
Adenoma, Trabecular
disease Neoplasms Neoplastic Process 37 0.300 None 1.000 2 2013 2013