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: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases
group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.300 limited 0
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.300 limited 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 None 0
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection
disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 237 21 0.100 None 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 121 11 0.100 None 0 1
CUI: C0700225
Disease: Serum creatinine raised
Serum creatinine raised
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 27 2 0.100 None 0
CUI: C1840375
Disease: Elevated diastolic blood pressure
Elevated diastolic blood pressure
phenotype Cardiovascular Diseases Finding 14 1 0.100 None 0 1
CUI: C1840374
Disease: Elevated systolic blood pressure
Elevated systolic blood pressure
phenotype Cardiovascular Diseases Finding 14 1 0.100 None 0 1
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.300 None 1.000 1 2014 2014
Degenerative Diseases, Central Nervous System
group Nervous System Diseases Disease or Syndrome 43 0.300 None 1.000 1 2014 2014
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C0751733
Disease: Degenerative Diseases, Spinal Cord
Degenerative Diseases, Spinal Cord
group Nervous System Diseases Disease or Syndrome 40 0.300 None 1.000 1 2014 2014
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
group Cardiovascular Diseases Disease or Syndrome 688 40 0.300 None 1.000 1 2014 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.300 None 1.000 1 2014 2014
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 185 3 0.200 None 1.000 1 2002 2002
CUI: C0394006
Disease: Dysequilibrium syndrome
Dysequilibrium syndrome
disease Nervous System Diseases Disease or Syndrome 20 1 0.010 None 1.000 1 2010 2010
Malignant neoplasm of gastrointestinal tract
disease Digestive System Diseases; Neoplasms Neoplastic Process 423 55 0.010 None 1.000 1 2010 2010
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2018 2018
Congenital contractural arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.010 None 1.000 1 2019 2019
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors
group Neoplasms Neoplastic Process 491 20 0.010 None 1.000 1 2008 2008
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
disease Neoplasms Neoplastic Process 877 43 0.010 None 1.000 1 2019 2019
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 803 63 0.010 None 1.000 1 2014 2014
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 15 24 0.010 None 1.000 1 2014 2014
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2019 2019
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 570 1 0.010 None 1.000 1 2006 2006