NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
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: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 4 10 0.300 None 1.000 2 2000 2000
Elevated amniotic fluid alpha-fetoprotein
phenotype Finding 4 0.100 None 0
CUI: C3825926
Disease: Nephrotic syndrome in children
Nephrotic syndrome in children
disease Disease or Syndrome 6 1 0.010 None 1.000 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 0.300 None 1.000 1 2008 2008
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 1
CUI: C4524264
Disease: Uncomplicated pyelonephritis
Uncomplicated pyelonephritis
disease Disease or Syndrome 10 0.010 None 1.000 1 1997 1997
CUI: C1849540
Disease: Delayed eruption of permanent teeth
Delayed eruption of permanent teeth
phenotype Finding 10 0.100 None 0
Finnish congenital nephrotic syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 11 178 0.800 None 1.000 67 176 1998 2019
Autosomal dominant tubulointerstitial kidney disease
disease Disease or Syndrome 13 3 0.010 None 1.000 1 2019 2019
Medium-chain acyl-coenzyme A dehydrogenase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 15 114 0.010 None 1.000 1 2001 2001
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy
phenotype Finding 17 1 0.100 None 0
CUI: C4521759
Disease: Tubular Atrophy Assessment
Tubular Atrophy Assessment
phenotype Diagnostic Procedure 17 0.100 None 0
Infantile neuronal ceroid lipofuscinosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 22 4 0.010 None 1.000 1 2001 2001
Diffuse mesangial sclerosis (disorder)
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 22 0.110 None 1.000 1 2005 2005
CUI: C0020639
Disease: Hypoproteinemia
Hypoproteinemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 24 4 0.100 None 0
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: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 9 0.500 None 1.000 56 5 1996 2019
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 53 0.400 None 1.000 4 1 2002 2009
CUI: C1704377
Disease: Bright Disease
Bright Disease
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 0.300 None 1.000 2 2001 2011
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive
phenotype Finding 38 0.100 None 0
CUI: C0004158
Disease: Athetosis
Athetosis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 39 3 0.010 None 1.000 1 2006 2006
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 42 6 0.020 None 1.000 2 2003 2016
CUI: C0848332
Disease: Spots on skin
Spots on skin
phenotype Skin and Connective Tissue Diseases Sign or Symptom 43 0.010 None 1.000 1 2002 2002
CUI: C1510475
Disease: Diverticulosis
Diverticulosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 43 6 0.010 None 1.000 1 2014 2014