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: 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: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell 		disease Neoplasms Neoplastic Process 49 0.300 None 1.000 1 2013 2013
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: C1384514
Disease: Conn Syndrome
Conn Syndrome 		disease Endocrine System Diseases Disease or Syndrome 82 25 0.310 None 1.000 2 2013 2015
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 84 6 0.310 None 1.000 2 2013 2015
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: C0850703
Disease: Frequent falls
Frequent falls 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 94 4 0.100 None 0
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: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype Finding 100 26 0.100 None 0
CUI: C0009777
Disease: Conn Adenoma
Conn Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 107 5 0.080 None 1.000 8 2015 2016
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 136 23 0.010 None 1.000 1 2017 2017
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 143 14 0.100 None 0
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: 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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 246 0.100 None 0 1
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C0205647
Disease: Follicular adenoma
Follicular adenoma 		disease Neoplasms Neoplastic Process 183 5 0.300 None 1.000 1 2013 2013
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 1
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: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 281 46 0.010 None 1.000 1 2016 2016
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0 1
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0011334
Disease: Dental caries
Dental caries 		disease Stomatognathic Diseases Disease or Syndrome 330 126 0.100 None 0 1
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0