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: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		disease Anatomical Abnormality 11 8 0.100 None 0 1
CUI: C0234376
Disease: Action Tremor
Action Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 95 2 0.100 None 0
CUI: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1183 103 0.310 None 1.000 1 2013 2013
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell 		disease Neoplasms Neoplastic Process 49 0.300 None 1.000 1 2013 2013
CUI: C0205648
Disease: Adenoma, Microcystic
Adenoma, Microcystic 		disease Neoplasms Neoplastic Process 45 0.300 None 1.000 1 2013 2013
CUI: C0205649
Disease: Adenoma, Monomorphic
Adenoma, Monomorphic 		disease Neoplasms Neoplastic Process 36 0.300 None 1.000 1 2013 2013
CUI: C0205651
Disease: Adenoma, Trabecular
Adenoma, Trabecular 		disease Neoplasms Neoplastic Process 37 0.300 None 1.000 1 2013 2013
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 156 9 0.010 None 1.000 1 2016 2016
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms 		group Neoplasms; Endocrine System Diseases Neoplastic Process 94 0.010 None 1.000 1 2015 2015
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 281 46 0.010 None 1.000 1 2016 2016
CUI: C1706762
Disease: Aldosterone-Producing Adrenal Cortex Adenoma
Aldosterone-Producing Adrenal Cortex Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 2 6 0.100 None 0 3
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2020 2020
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.120 None 0.500 2 2013 2016
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.010 None 1.000 1 1983 1983
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 68 13 0.100 None 0
CUI: C0234366
Disease: Ataxic
Ataxic 		phenotype Sign or Symptom 15 4 0.010 None 1.000 1 2017 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2002 2007
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.070 None 0.857 7 1997 2018
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.100 None 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype Finding 100 26 0.100 None 0
CUI: C0233844
Disease: Clumsiness
Clumsiness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Sign or Symptom 48 3 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C0852975
Disease: Congenital cerebellar ataxia
Congenital cerebellar ataxia 		disease Disease or Syndrome 8 2 0.010 None 1.000 1 1 2015 2015
CUI: C0009777
Disease: Conn Adenoma
Conn Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 107 5 0.080 None 1.000 8 2015 2016