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: C3151295
Disease: HYPOMAGNESEMIA 6, RENAL
HYPOMAGNESEMIA 6, RENAL 		disease Disease or Syndrome 1 2 0.700 strong 1.000 2 2 2011 2016
CUI: C4225333
Disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 		disease Disease or Syndrome 1 3 0.700 strong 1.000 2 3 2014 2016
CUI: C0037768
Disease: Spasmophilia
Spasmophilia 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
CUI: C0270224
Disease: Tetany, Neonatal
Tetany, Neonatal 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
CUI: C0917812
Disease: Tetanilla
Tetanilla 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
CUI: C4510731
Disease: Familial primary hypomagnesemia with normocalciuria and normocalcemia
Familial primary hypomagnesemia with normocalciuria and normocalcemia 		disease Disease or Syndrome 2 0.300 None 1.000 1 2011 2011
CUI: C2673443
Disease: Hypermagnesiuria
Hypermagnesiuria 		phenotype Finding 6 1 0.100 None 0
CUI: C4552839
Disease: Hypomagnesemia, CTCAE
Hypomagnesemia, CTCAE 		phenotype Finding 21 0.100 None 0
CUI: C0039621
Disease: Tetany
Tetany 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Finding 24 1 0.300 None 1.000 1 2012 2012
CUI: C1842247
Disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 25 35 0.100 None 1.000 1 1 2013 2013
CUI: C1306341
Disease: Mental handicap
Mental handicap 		disease Mental or Behavioral Dysfunction 26 1 0.010 None 1.000 1 2014 2014
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype Finding 27 21 0.100 None 0
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 32 2 0.100 None 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		phenotype Finding 49 1 0.100 None 0
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		phenotype Diagnostic Procedure 54 95 0.100 None 1.000 3 2 2009 2013
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 58 11 0.140 None 1.000 4 1 2011 2019
CUI: C0022333
Disease: Jacksonian Seizure
Jacksonian Seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2012 2012
CUI: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 102 0.300 None 1.000 1 2012 2012
CUI: C0422852
Disease: Seizures, Auditory
Seizures, Auditory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 102 0.300 None 1.000 1 2012 2012
CUI: C0422853
Disease: Olfactory seizure
Olfactory seizure 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2012 2012
CUI: C0422854
Disease: Gustatory seizure
Gustatory seizure 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 0.300 None 1.000 1 2012 2012
CUI: C0422855
Disease: Vertiginous seizure
Vertiginous seizure 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2012 2012
CUI: C0751056
Disease: Non-epileptic convulsion
Non-epileptic convulsion 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 0.300 None 1.000 1 2012 2012
CUI: C0751110
Disease: Single Seizure
Single Seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2012 2012
CUI: C0751123
Disease: Atonic Absence Seizures
Atonic Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2012 2012