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: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2
disease Disease or Syndrome 1 8 0.700 None 1.000 3 8 2016 2018
CUI: C1840404
Disease: Hyperostosis Cranialis Interna
Hyperostosis Cranialis Interna
phenotype Musculoskeletal Diseases Finding 2 1 0.400 None 1.000 1 1 2018 2018
CUI: C0035228
Disease: Respiratory Hypersensitivity
Respiratory Hypersensitivity
phenotype Respiratory Tract Diseases; Immune System Diseases Pathologic Function 23 0.300 None 1.000 1 2007 2007
CUI: C0677050
Disease: Manganese Poisoning
Manganese Poisoning
disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 16 0.300 None 1.000 1 2017 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.120 None 1.000 2 2018 2018
CUI: C0238651
Disease: Ankle clonus
Ankle clonus
phenotype Finding 32 5 0.100 None 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0
CUI: C2242577
Disease: Oromandibular dystonia
Oromandibular dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 0.100 None 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 147 10 0.100 None 0
CUI: C0233565
Disease: Bradykinesia
Bradykinesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 133 16 0.100 None 0
CUI: C0231698
Disease: Gait, Scissors
Gait, Scissors
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 12 1 0.100 None 0
CUI: C0040822
Disease: Tremor
Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease Musculoskeletal Diseases Finding 210 32 0.100 None 0
CUI: C1863351
Disease: Calvarial hyperostosis
Calvarial hyperostosis
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 10 0.100 None 0
CUI: C1836843
Disease: Progressive inability to walk
Progressive inability to walk
phenotype Finding 10 3 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction
phenotype Finding 16 0.100 None 0
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly
phenotype Finding 67 4 0.100 None 0
CUI: C0813217
Disease: Expressionless face
Expressionless face
phenotype Nervous System Diseases Finding 31 1 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 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: C1856507
Disease: Bulbar signs
Bulbar signs
phenotype Finding 33 1 0.100 None 0
CUI: C0040264
Disease: Tinnitus
Tinnitus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 103 14 0.100 None 0