ACTN4, actinin alpha 4, 81

N. diseases: 166; N. variants: 10
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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2019 2019
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.010 None 1.000 1 2018 2018
CUI: C0158687
Disease: Congenital malformation of genital organs
Congenital malformation of genital organs 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 8 1 0.010 None 1.000 1 2013 2013
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.010 None 1.000 1 2012 2012
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 281 50 0.500 None 1.000 31 4 2003 2019
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.100 None 1.000 14 2000 2019
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 8 0.800 strong 1.000 12 8 2000 2015
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.100 None 1.000 10 2000 2019
CUI: C4049702
Disease: Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Focal Segmental Glomerulosclerosis, Not Otherwise Specified 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 42 6 0.080 None 1.000 8 2003 2017
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.060 None 0.833 6 2008 2018
CUI: C0027721
Disease: Lipoid nephrosis
Lipoid nephrosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 50 3 0.060 None 1.000 6 2013 2019
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 378 36 0.060 None 1.000 6 2008 2016
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 0.060 None 1.000 6 2002 2019
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 25 0.060 None 0.667 6 2003 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.060 None 1.000 6 2008 2018
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 19 0.060 None 0.667 6 2003 2019
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 197 33 0.050 None 1.000 5 2014 2019
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.050 None 1.000 5 1 1997 2016
CUI: C0078911
Disease: AIDS-Associated Nephropathy
AIDS-Associated Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 45 1 0.050 None 1.000 5 2008 2016
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.050 None 1.000 5 1 1997 2016
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 456 130 0.030 None 1.000 3 2014 2017
CUI: C0451720
Disease: Nephrotic syndrome, focal and segmental glomerular lesions
Nephrotic syndrome, focal and segmental glomerular lesions 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 0.200 None 1.000 3 2003 2007
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 100 54 0.030 None 1.000 3 2012 2017
CUI: C1704321
Disease: Nephrotic Syndrome, Minimal Change
Nephrotic Syndrome, Minimal Change 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 85 10 0.030 None 1.000 3 2013 2017
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 0.030 None 1.000 3 2009 2014