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: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2015 2015
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Finding 17 12 0.100 None 0
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior
phenotype Behavior and Behavior Mechanisms Finding 19 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: C0278592
Disease: Adult Angiosarcoma
Adult Angiosarcoma
disease Neoplasms Neoplastic Process 101 1 0.010 None 1.000 1 2016 2016
Adult Epithelioid Hemangioendothelioma
disease Neoplasms Neoplastic Process 26 0.100 None 0.917 12 2011 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2011 2011
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
phenotype Behavior and Behavior Mechanisms Individual Behavior 176 22 0.100 None 0
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.010 None 1.000 1 1 2016 2016
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 164 139 0.100 None 1.000 1 1 2016 2016
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 31 54 0.100 None 1.000 1 1 2016 2016
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
disease Disease or Syndrome 27 67 0.100 None 1.000 1 1 2016 2016
Amyotrophic Lateral Sclerosis, Sporadic
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 173 90 0.110 None 1.000 1 1 2016 2016
CUI: C0345907
Disease: Angiosarcoma of liver
Angiosarcoma of liver
disease Digestive System Diseases; Neoplasms; Cardiovascular Diseases Neoplastic Process 11 1 0.010 None 1.000 1 2020 2020
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 985 59 0.010 None 1.000 1 2005 2005
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.020 None 1.000 2 2012 2014
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0
Autosomal dominant compelling helio ophthalmic outburst syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 26 54 0.100 None 1.000 1 1 2016 2016
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 2 2019 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2018 2018
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 31 7 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 133 13 0.100 None 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose
phenotype Finding 123 13 0.100 None 0
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2011 2011