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.
Polycystic Kidney, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 280 35 1.000 definitive 0.984 312 18 1994 2020
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 15 41 0.970 None 1.000 36 33 1995 2019
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 276 54 0.700 definitive 0.963 54 4 1996 2019
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 39 134 0.300 None 0.867 15 1996 2019
Polycystic Kidney, Type 1 Autosomal Dominant Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 10 2 0.300 None 1.000 6 2002 2019
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: 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: 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: C0042373
Disease: Vascular Diseases
Vascular Diseases
group Cardiovascular Diseases Disease or Syndrome 688 40 0.300 None 1.000 1 2014 2014
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.300 limited 0
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases
group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 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: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.200 None 1.000 14 1995 2019
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
Autosomal Recessive Polycystic Kidney Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 69 317 0.170 None 0.857 7 2 1994 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.170 None 1.000 7 1 1996 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.130 None 1.000 3 1 2003 2016
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome 38 17 0.130 None 1.000 3 1 1996 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.120 None 1.000 3 1 2017 2019
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 153 18 0.100 None 0.882 17 2003 2020
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.100 None 1.000 14 1995 2019
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.100 None 1.000 14 1995 2020
CUI: C3887499
Disease: Renal cyst
Renal cyst
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 170 17 0.100 None 1.000 12 1 1999 2019