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.
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 10 2 0.700 4 2 1997 2018
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
disease Disease or Syndrome 1 4 0.600 3 4 2015 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 2 2015 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 strong 2 2015 2016
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital Abnormality 115 9 0.300 strong 2 2015 2016
CUI: C4302111
Disease: Familial Ménière disease
Familial Ménière disease
disease Disease or Syndrome 124 0.300 limited 1 2017 2017
Sensorineural Hearing Loss (disorder)
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 470 31 0.110 1.000 1 2007 2007
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.110 1.000 1 2016 2016
CUI: C0271514
Disease: Low frequency deafness
Low frequency deafness
disease Disease or Syndrome 4 0.110 1.000 1 2005 2005
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 1 1 2015 2015
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype Finding 538 22 0.100 1 1 2015 2015
Platelet mean volume determination (procedure)
phenotype Laboratory Procedure 176 357 0.100 1 1 2017 2017
CUI: C0424688
Disease: Small head
Small head
phenotype Finding 569 57 0.100 1 1 2015 2015
CUI: C0020517
Disease: Hypersensitivity
Hypersensitivity
group Immune System Diseases Pathologic Function 184 964 0.100 1 1 2017 2017
CUI: C1527347
Disease: Difficulty speaking
Difficulty speaking
phenotype Finding 72 0.100 0
CUI: C1837352
Disease: Childhood onset
Childhood onset
phenotype Finding 49 0.100 0
CUI: C1842138
Disease: Progressive hearing impairment
Progressive hearing impairment
phenotype Finding 11 1 0.100 0
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Finding 75 2 0.100 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
phenotype Pathologic Function 45 0.100 0
CUI: C4280574
Disease: Problems speaking
Problems speaking
phenotype Finding 72 0.100 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease Disease or Syndrome 51 0.100 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 749 36 0.100 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease Congenital Abnormality 186 12 0.100 0
CUI: C0155320
Disease: Blindness, Cortical
Blindness, Cortical
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 46 2 0.100 0
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.100 0