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: C0268540
Disease: HHH syndrome
HHH syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 8 21 0.010 None 1.000 1 2019 2019
CUI: C0392477
Disease: Congenital flat foot
Congenital flat foot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 2 0.010 None 1.000 1 2005 2005
CUI: C0393556
Disease: Complicated hereditary spastic paraplegia
Complicated hereditary spastic paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2018 2018
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None 1.000 1 2010 2010
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.010 None 1.000 1 2015 2015
CUI: C3642346
Disease: Luminal B Breast Carcinoma
Luminal B Breast Carcinoma 		disease Neoplastic Process 103 7 0.010 None 1.000 1 2018 2018
CUI: C3665335
Disease: Cutis laxa, autosomal recessive
Cutis laxa, autosomal recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 17 1 0.010 None 1.000 1 2014 2014
CUI: C3665464
Disease: Dementia due to Alzheimer's disease (disorder)
Dementia due to Alzheimer's disease (disorder) 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 35 1 0.010 None 1.000 1 2011 2011
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Acquired Abnormality 17 1 0.010 None 1.000 1 2000 2000
CUI: C2931356
Disease: Spastic paraplegia type 5A, recessive
Spastic paraplegia type 5A, recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2018 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2018 2018
CUI: C0264133
Disease: Acquired flat foot
Acquired flat foot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 4 0.010 None 1.000 1 2005 2005
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.010 None 1.000 1 2014 2014
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2014 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2020 2020
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.010 None 1.000 1 2014 2014
CUI: C0033300
Disease: Progeria
Progeria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 118 41 0.010 None 1.000 1 2014 2014
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 2003 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2015 2015
CUI: C0234535
Disease: Clonic Seizures
Clonic Seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 122 0.010 None 1.000 1 2005 2005
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2016 2016
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.010 None 1.000 1 2018 2018
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.010 None 1.000 1 2000 2000
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None 1.000 1 2018 2018
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		disease Congenital Abnormality 25 3 0.010 None 1.000 1 2014 2014