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: C2748576
Disease: Renal sodium wasting
Renal sodium wasting 		phenotype Finding 1 0.100 None 0
CUI: C0270857
Disease: Epilepsy, Reflex
Epilepsy, Reflex 		disease Nervous System Diseases Disease or Syndrome 3 0.200 None 1.000 1 2019 2019
CUI: C2607947
Disease: Unilateral deafness
Unilateral deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 2010 2010
CUI: C0240928
Disease: Salt craving
Salt craving 		phenotype Mental Disorders Sign or Symptom 3 0.100 None 0
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 4 0.400 disputed 1.000 3 2004 2009
CUI: C1853205
Disease: Glycosylphosphatidylinositol deficiency
Glycosylphosphatidylinositol deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 5 1 0.100 None 0 1
CUI: C1862050
Disease: Cochlear malformation
Cochlear malformation 		phenotype Finding 5 0.100 None 0
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 6 12 1.000 strong 1.000 26 12 1997 2019
CUI: C1846348
Disease: Renal potassium wasting
Renal potassium wasting 		phenotype Finding 6 1 0.100 None 0
CUI: C0342162
Disease: Compensated hypothyroidism
Compensated hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 7 1 0.100 None 0
CUI: C2676974
Disease: Hypoplasia of the cochlea
Hypoplasia of the cochlea 		phenotype Finding 7 0.100 None 0
CUI: C1853666
Disease: Anemia, Diamond-Blackfan, 2
Anemia, Diamond-Blackfan, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2010 2010
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 10 81 0.600 strong 1.000 2 2 1997 2009
CUI: C0085570
Disease: Hypokalemic alkalosis
Hypokalemic alkalosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2011 2011
CUI: C0240783
Disease: Increased circulating renin level
Increased circulating renin level 		phenotype Finding 10 0.100 None 0
CUI: C0740898
Disease: Hypokalemic metabolic alkalosis
Hypokalemic metabolic alkalosis 		disease Disease or Syndrome 10 3 0.100 None 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C0018776
Disease: Hearing Loss, Central
Hearing Loss, Central 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 12 0.200 None 1.000 1 2014 2014
CUI: C0393519
Disease: Cerebellar Ataxia, Early Onset
Cerebellar Ataxia, Early Onset 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2018 2018
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 16 4 0.100 None 0
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction 		phenotype Finding 16 0.100 None 0
CUI: C0014549
Disease: Tonic-Clonic Epilepsy
Tonic-Clonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 19 1 0.200 None 1.000 1 2013 2013
CUI: C4552839
Disease: Hypomagnesemia, CTCAE
Hypomagnesemia, CTCAE 		phenotype Finding 21 0.100 None 0
CUI: C1846347
Disease: Renal salt wasting
Renal salt wasting 		phenotype Finding 22 0.100 None 0
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 27 5 0.010 None 1.000 1 1 2010 2010