NPHS2, NPHS2 stomatin family member, podocin, 7827

N. diseases: 86; N. variants: 67
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: C4016901
Disease: NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO
NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO 		phenotype Finding 2 2 0.100 None 0 2
CUI: C1567743
Disease: Alport Syndrome, Autosomal Dominant
Alport Syndrome, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 5 0.300 limited 1.000 1 2015 2015
CUI: C0403398
Disease: Steroid-dependent nephrotic syndrome
Steroid-dependent nephrotic syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 0.010 None 1.000 1 2007 2007
CUI: C3825926
Disease: Nephrotic syndrome in children
Nephrotic syndrome in children 		disease Disease or Syndrome 6 1 0.010 None 1.000 1 1 2015 2015
CUI: C1704320
Disease: Glomerulonephritis, Minimal Change
Glomerulonephritis, Minimal Change 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 7 0.010 None 1.000 1 2009 2009
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 7 13 0.010 None 1.000 1 2008 2008
CUI: C0445118
Disease: Nephrotic range proteinuria
Nephrotic range proteinuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 7 7 0.100 None 0 2
CUI: C0268732
Disease: Nephritic syndrome
Nephritic syndrome 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 8 0.020 None 1.000 2 2007 2009
CUI: C1567744
Disease: Alport Syndrome, Autosomal Recessive
Alport Syndrome, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 8 2 0.300 limited 1.000 1 2015 2015
CUI: C0241908
Disease: Hematuria, Benign Familial
Hematuria, Benign Familial 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 11 22 0.300 limited 1.000 1 2015 2015
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 11 178 0.010 None 1.000 1 2002 2002
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 12 9 0.020 None 1.000 2 2 2008 2012
CUI: C1567742
Disease: Alport Syndrome, X-Linked
Alport Syndrome, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 13 8 0.300 limited 1.000 1 2015 2015
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 2019 2019
CUI: C4054325
Disease: Obesity Related Glomerulopathy
Obesity Related Glomerulopathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 16 0.010 None 1.000 1 2018 2018
CUI: C1709661
Disease: Primary Focal Segmental Glomerulosclerosis
Primary Focal Segmental Glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 18 0.020 None 1.000 2 2006 2007
CUI: C1737225
Disease: Mesangioproliferative glomerulonephritis
Mesangioproliferative glomerulonephritis 		disease Disease or Syndrome 21 0.010 None 1.000 1 2004 2004
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 22 0.040 None 1.000 4 2004 2010
CUI: C1305904
Disease: Familial hematuria
Familial hematuria 		disease Disease or Syndrome 23 7 0.020 None 1.000 2 1 2012 2018
CUI: C0086432
Disease: Hyalinosis, Segmental Glomerular
Hyalinosis, Segmental Glomerular 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 28 0.300 None 1.000 1 2005 2005
CUI: C2721603
Disease: Henoch-Schonlein purpura nephritis
Henoch-Schonlein purpura nephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 29 6 0.010 None 1.000 1 2007 2007
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 53 0.610 None 1.000 60 50 2000 2018
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 9 0.100 None 1.000 12 1 2003 2018
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 36 11 0.020 None 1.000 2 1 2013 2014
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		phenotype Finding 38 0.100 None 0