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: C0236053
Disease: Mucosal ulcer
Mucosal ulcer
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 15 0.010 None 1.000 1 2016 2016
Clear-cell metastatic renal cell carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 260 11 0.010 None 1.000 1 2004 2004
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism
disease Endocrine System Diseases Disease or Syndrome 111 14 0.010 None 1.000 1 2013 2013
CUI: C0206653
Disease: Angiomyoma
Angiomyoma
disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2018 2018
CUI: C2931352
Disease: Familial renal cell carcinoma
Familial renal cell carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 9 0.010 None 1.000 1 2015 2015
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia
disease Infections; Nervous System Diseases Disease or Syndrome 25 16 0.010 None 1.000 1 2017 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None < 0.001 1 2019 2019
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 2017 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 144 114 0.010 None 1.000 1 2013 2013
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 281 46 0.010 None 1.000 1 2017 2017
Well Differentiated Pancreatic Endocrine Tumor
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 117 3 0.010 None 1.000 1 2015 2015
CUI: C0206734
Disease: Hemangioblastoma
Hemangioblastoma
disease Neoplasms Neoplastic Process 79 9 0.010 None 1.000 1 2019 2019
CUI: C0235222
Disease: Diastolic hypertension
Diastolic hypertension
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 21 1 0.010 None 1.000 1 1996 1996
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities
disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2017 2017
CUI: C1332851
Disease: Cardiac Paraganglioma
Cardiac Paraganglioma
disease Neoplasms; Cardiovascular Diseases Neoplastic Process 2 0.010 None 1.000 1 2018 2018
CUI: C0018552
Disease: Hamartoma
Hamartoma
disease Neoplasms Neoplastic Process 91 8 0.010 None 1.000 1 2019 2019
CUI: C1334699
Disease: Mesenchymal Cell Neoplasm
Mesenchymal Cell Neoplasm
disease Neoplasms Neoplastic Process 55 0.010 None 1.000 1 2018 2018
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors
group Neoplasms Neoplastic Process 491 20 0.010 None 1.000 1 2010 2010
CUI: C0018809
Disease: Heart Neoplasm
Heart Neoplasm
disease Neoplasms; Cardiovascular Diseases Neoplastic Process 17 0.010 None 1.000 1 2004 2004
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.010 None 1.000 1 2018 2018
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
disease Neoplasms Neoplastic Process 413 14 0.010 None 1.000 1 2005 2005
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1447 291 0.010 None 1.000 1 2014 2014
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
group Neoplasms Neoplastic Process 569 154 0.010 None 1.000 1 2005 2005
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 20 48 0.010 None 1.000 1 2016 2016
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 289 55 0.010 None 1.000 1 2018 2018