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.
Spastic Paraplegia 42, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 1 0.710 1.000 2 1 2009 2015
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
disease Disease or Syndrome 1 2 0.700 2 2 2005 2012
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 518 42 0.500 strong 1 2012 2012
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 293 1 0.400 1 2012 2012
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 3 2012 2015
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
group Mental Disorders Mental or Behavioral Dysfunction 169 7 0.300 1 2012 2012
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
phenotype Eye Diseases Finding 338 0.300 1 2012 2012
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia
disease Eye Diseases Disease or Syndrome 22 1 0.300 1 2012 2012
Child Development Disorders, Specific
group Mental Disorders Mental or Behavioral Dysfunction 23 0.300 1 2012 2012
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations
phenotype Mental Disorders Mental or Behavioral Dysfunction 23 0.300 1 2012 2012
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 125 21 0.300 limited 0
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.300 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 114 40 0.120 1.000 2 2013 2014
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease Congenital Abnormality 110 60 0.110 1.000 1 2012 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.100 0.857 21 1995 2016
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration
disease Disease or Syndrome 192 0.100 0
CUI: C0270948
Disease: Neurogenic Muscular Atrophy
Neurogenic Muscular Atrophy
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 227 0.100 0
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease Congenital Abnormality 288 7 0.100 0
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin
phenotype Finding 5 0.100 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Disease or Syndrome 337 21 0.100 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 499 33 0.100 0
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration
disease Disease or Syndrome 258 3 0.100 0
CUI: C0231687
Disease: Spastic gait
Spastic gait
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 37 1 0.100 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 144 1 0.100 0
CUI: C0154671
Disease: Degenerative brain disorder
Degenerative brain disorder
group Disease or Syndrome 166 0.100 0