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: 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 2012 2012
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: C0702266
Disease: Basophilia
Basophilia 		disease Disease or Syndrome 12 0.010 None 1.000 1 1991 1991
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 86 163 0.010 None 1.000 1 2013 2013
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: C1855681
Disease: Nephronophthisis, familial juvenile
Nephronophthisis, familial juvenile 		disease Disease or Syndrome 17 0.010 None 1.000 1 2010 2010
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: 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
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: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 63 2 0.100 None 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.100 None 0
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.100 None 0
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: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.100 None 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease Respiratory Tract Diseases Disease or Syndrome 319 23 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: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 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: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype Finding 77 11 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: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 0.100 None 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		phenotype Finding 49 2 0.100 None 0