INVS, inversin, 27130

N. diseases: 74; N. variants: 14
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: C1865880
Disease: Hyperkalemic metabolic acidosis
Hyperkalemic metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Finding 1 0.100 None 0
CUI: C1849765
Disease: Absence of renal corticomedullary differentiation
Absence of renal corticomedullary differentiation 		phenotype Finding 3 0.100 None 0
CUI: C0266239
Disease: Congenital anomaly of bile ducts
Congenital anomaly of bile ducts 		group Digestive System Diseases Congenital Abnormality 4 0.010 None < 0.001 1 2002 2002
CUI: C1868139
Disease: Medullary cystic kidney disease 1
Medullary cystic kidney disease 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 0.020 None 1.000 2 2000 2001
CUI: C1865877
Disease: Renal cortical microcysts
Renal cortical microcysts 		phenotype Finding 5 0.100 None 0
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 9 0.010 None 1.000 1 2002 2002
CUI: C0702266
Disease: Basophilia
Basophilia 		disease Disease or Syndrome 12 0.010 None 1.000 1 1991 1991
CUI: C3275899
Disease: Hyperechogenic kidneys
Hyperechogenic kidneys 		phenotype Finding 12 2 0.100 None 0
CUI: C4511620
Disease: Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease 		disease Disease or Syndrome 13 3 0.010 None 1.000 1 2002 2002
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 7 0.960 None 1.000 16 5 1993 2020
CUI: C1855681
Disease: Nephronophthisis, familial juvenile
Nephronophthisis, familial juvenile 		disease Disease or Syndrome 17 0.010 None 1.000 1 2010 2010
CUI: C4551979
Disease: Nephronophthisis 1
Nephronophthisis 1 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 18 6 0.020 None 1.000 2 2002 2010
CUI: C0238304
Disease: Chronic interstitial nephritis
Chronic interstitial nephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 18 1 0.100 None 0
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 20 1 0.500 strong 1.000 3 2003 2012
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency 		phenotype Cardiovascular Diseases Pathologic Function 22 2 0.100 None 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		disease Anatomical Abnormality 22 1 0.100 None 0
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney 		phenotype Finding 27 2 0.100 None 0
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: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 31 0.010 None 1.000 1 2008 2008
CUI: C0020461
Disease: Hyperkalemia
Hyperkalemia 		phenotype Nutritional and Metabolic Diseases Finding 32 1 0.100 None 0
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		disease Nervous System Diseases Disease or Syndrome 44 6 0.020 None 1.000 2 2008 2009
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 46 4 0.010 None 1.000 1 2018 2018
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		phenotype Finding 49 2 0.100 None 0
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 50 0.010 None 1.000 1 2008 2008
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 53 38 0.010 None 1.000 1 2013 2013