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: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.400 None 1.000 25 2 1998 2019
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.380 None 1.000 10 2001 2014
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 1.000 2 2007 2009
CUI: C0042029
Disease: Urinary tract infection
Urinary tract infection 		group Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 219 14 0.020 None 1.000 2 1997 2017
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.110 None 1.000 2 1 2009 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 1 2003 2003
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.300 moderate 0
CUI: C0033687
Disease: Proteinuria
Proteinuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 239 20 0.410 None 1.000 4 1 2002 2010
CUI: C0001925
Disease: Albuminuria
Albuminuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 76 59 0.300 None 1.000 1 2005 2005
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
CUI: C0011991
Disease: Diarrhea
Diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.110 None 1.000 1 1 1994 1994
CUI: C0015230
Disease: Exanthema
Exanthema 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 251 14 0.010 None 1.000 1 2002 2002
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 166 14 0.010 None 1.000 1 2007 2007
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: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C0003962
Disease: Ascites
Ascites 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 198 7 0.100 None 0 1
CUI: C0013604
Disease: Edema
Edema 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 126 1 0.100 None 0 1
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		phenotype Digestive System Diseases Pathologic Function 121 4 0.100 None 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 181 34 0.100 None 0
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases Finding 127 14 0.100 None 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype Pathological Conditions, Signs and Symptoms Finding 156 0.100 None 0
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: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		phenotype Finding 38 0.100 None 0
CUI: C1839860
Disease: Elevated amniotic fluid alpha-fetoprotein
Elevated amniotic fluid alpha-fetoprotein 		phenotype Finding 4 0.100 None 0