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: C4225234
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn 		disease Disease or Syndrome 3 5 0.010 None 1.000 1 2019 2019
CUI: C1735368
Disease: Acute dystonia
Acute dystonia 		phenotype Sign or Symptom 4 0.010 None 1.000 1 2018 2018
CUI: C4021624
Disease: Osteosclerosis of the base of the skull
Osteosclerosis of the base of the skull 		phenotype Finding 4 0.100 None 0
CUI: C1865871
Disease: HEMANGIOMA, CAPILLARY INFANTILE
HEMANGIOMA, CAPILLARY INFANTILE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 7 5 0.010 None 1.000 1 2018 2018
CUI: C1836843
Disease: Progressive inability to walk
Progressive inability to walk 		phenotype Finding 10 3 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: C0231698
Disease: Gait, Scissors
Gait, Scissors 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 12 1 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: C2938912
Disease: Hyperintensity of cerebral white matter on MRI
Hyperintensity of cerebral white matter on MRI 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 15 1 0.100 None 0
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: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction 		phenotype Finding 16 0.100 None 0
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		phenotype Finding 17 8 0.100 None 0
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: C0813217
Disease: Expressionless face
Expressionless face 		phenotype Nervous System Diseases Finding 31 1 0.100 None 0
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		phenotype Finding 32 5 0.100 None 0
CUI: C1856507
Disease: Bulbar signs
Bulbar signs 		phenotype Finding 33 1 0.100 None 0
CUI: C0020492
Disease: Hyperostosis
Hyperostosis 		disease Musculoskeletal Diseases Disease or Syndrome 50 3 0.010 None 1.000 1 2018 2018
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		phenotype Nervous System Diseases Sign or Symptom 60 12 0.100 None 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype Finding 67 4 0.100 None 0
CUI: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion 		disease Disease or Syndrome 88 14 0.010 None 1.000 1 2019 2019
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
CUI: C1391732
Disease: Cancer cachexia
Cancer cachexia 		disease Neoplastic Process 110 1 0.010 None 1.000 1 2019 2019
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 133 16 0.100 None 0