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: C0158683
Disease: Polycystic liver disease
Polycystic liver disease
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome 38 17 0.700 None 1.000 14 2004 2016
POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS
disease Disease or Syndrome 1 1 0.400 None 1.000 1 1 2004 2004
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 0.320 None 1.000 3 2011 2019
CUI: C1567435
Disease: Polycystic Kidney - body part
Polycystic Kidney - body part
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 54 1 0.300 None 1.000 1 2011 2011
CUI: C0267834
Disease: Liver cyst
Liver cyst
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome 26 5 0.140 None 1.000 4 2006 2019
CUI: C0741494
Disease: Elevated total bilirubin
Elevated total bilirubin
phenotype Finding 17 1 0.100 None 0
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 0.100 None 0 2
CUI: C4025751
Disease: Abnormality of the pancreas
Abnormality of the pancreas
disease Anatomical Abnormality 13 1 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 305 22 0.100 None 0
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 46 4 0.100 None 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 122 24 0.100 None 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
disease Digestive System Diseases Disease or Syndrome 446 52 0.100 None 0
CUI: C0004604
Disease: Back Pain
Back Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 110 10 0.100 None 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.100 None 0
CUI: C4255088
Disease: Isolated polycystic liver disease
Isolated polycystic liver disease
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome 7 1 0.030 None 1.000 3 2011 2016
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 0.020 None 1.000 2 2014 2019
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 855 24 0.010 None 1.000 1 2013 2013
Hereditary Nonpolyposis Colorectal Cancer
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 174 1331 0.010 None 1.000 1 2013 2013
Autosomal dominant retinitis pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.010 None 1.000 1 2009 2009
CUI: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2004 2004
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 103 65 0.010 None 1.000 1 2013 2013