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: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16
disease Disease or Syndrome 1 5 0.600 1 5 2013 2013
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 0.510 strong 1.000 2 2008 2013
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Digestive System Diseases Disease or Syndrome 544 31 0.400 1 2013 2013
Polycystic Kidney, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 160 71 0.310 1.000 2 1997 2002
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 12 12 0.300 1 2002 2002
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 48 2 0.300 1 2013 2013
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; Disease or Syndrome 7 0.300 1 2002 2002
CUI: C0037221
Disease: Situs Inversus
Situs Inversus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 83 5 0.300 1 2013 2013
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Digestive System Diseases Disease or Syndrome 682 71 0.300 1 2013 2013
CUI: C0022679
Disease: Cystic kidney
Cystic kidney
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 89 6 0.300 1 2013 2013
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 8 6 0.300 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 180 1 0.300 strong 0
CUI: C1855681
Disease: Nephronophthisis, familial juvenile
Nephronophthisis, familial juvenile
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 15 4 0.300 0
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
disease Disease or Syndrome 30 9 0.200 0
CUI: C1853444
Disease: Heterotaxy, Visceral, 3, Autosomal
Heterotaxy, Visceral, 3, Autosomal
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 29 0.200 0
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL
disease Disease or Syndrome 30 4 0.200 0
CUI: C3151057
Disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 4, AUTOSOMAL
disease Disease or Syndrome 29 2 0.200 0
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 30 12 0.200 0
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL
disease Disease or Syndrome 30 2 0.200 0
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 123 19 0.120 1.000 2 2008 2016
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease Disease or Syndrome 63 40 0.120 1.000 2 2013 2014
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 369 1022 0.100 1 1 2017 2017
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index
phenotype Finding 369 1022 0.100 1 1 2017 2017
CUI: C1839604
Disease: Renal failure in adulthood
Renal failure in adulthood
phenotype Finding 95 2 0.100 0
CUI: C1567435
Disease: Polycystic Kidney - body part
Polycystic Kidney - body part
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 52 0.100 0