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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.030 None 1.000 3 2011 2012
CUI: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion 		disease Disease or Syndrome 88 14 0.010 None 1.000 1 2019 2019
CUI: C1391732
Disease: Cancer cachexia
Cancer cachexia 		disease Neoplastic Process 110 1 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: 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: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		phenotype Finding 32 5 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: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C1836843
Disease: Progressive inability to walk
Progressive inability to walk 		phenotype Finding 10 3 0.100 None 0
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction 		phenotype Finding 16 0.100 None 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype Finding 67 4 0.100 None 0
CUI: C1856507
Disease: Bulbar signs
Bulbar signs 		phenotype Finding 33 1 0.100 None 0
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		phenotype Finding 17 8 0.100 None 0
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: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2018 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2018 2018
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 146 349 0.010 None 1.000 1 2017 2017
CUI: C1863351
Disease: Calvarial hyperostosis
Calvarial hyperostosis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 10 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: C1318485
Disease: Liver regeneration disorder
Liver regeneration disorder 		phenotype Digestive System Diseases Disease or Syndrome 346 0.020 None 1.000 2 2012 2018
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.010 None 1.000 1 2012 2012