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: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.100 None 1.000 12 3 2004 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2011 2011
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction 		phenotype Finding 16 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.100 None 0 1
CUI: C0342162
Disease: Compensated hypothyroidism
Compensated hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 7 1 0.100 None 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C1846347
Disease: Renal salt wasting
Renal salt wasting 		phenotype Finding 22 0.100 None 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 246 0.100 None 0 1
CUI: C0240928
Disease: Salt craving
Salt craving 		phenotype Mental Disorders Sign or Symptom 3 0.100 None 0
CUI: C0240783
Disease: Increased circulating renin level
Increased circulating renin level 		phenotype Finding 10 0.100 None 0
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 49 7 0.100 None 0
CUI: C0234376
Disease: Action Tremor
Action Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 95 2 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C2748576
Disease: Renal sodium wasting
Renal sodium wasting 		phenotype Finding 1 0.100 None 0
CUI: C4552839
Disease: Hypomagnesemia, CTCAE
Hypomagnesemia, CTCAE 		phenotype Finding 21 0.100 None 0
CUI: C1846348
Disease: Renal potassium wasting
Renal potassium wasting 		phenotype Finding 6 1 0.100 None 0
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: C0740898
Disease: Hypokalemic metabolic alkalosis
Hypokalemic metabolic alkalosis 		disease Disease or Syndrome 10 3 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1862050
Disease: Cochlear malformation
Cochlear malformation 		phenotype Finding 5 0.100 None 0
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 68 17 0.100 None 0
CUI: C2676974
Disease: Hypoplasia of the cochlea
Hypoplasia of the cochlea 		phenotype Finding 7 0.100 None 0