COL4A3, collagen type IV alpha 3 chain, 1285

N. diseases: 119; N. variants: 129
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: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 4 143 0.800 None 1.000 35 81 1994 2017
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 0.800 None 1.000 24 1994 2017
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 0.800 None 1.000 15 11 1996 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 0.857 14 2 1995 2019
CUI: C0018965
Disease: Hematuria
Hematuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 235 31 0.200 None 0.917 12 2 1995 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 10 2003 2016
CUI: C0027706
Disease: Hereditary nephritis
Hereditary nephritis 		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 9 1 0.390 None 1.000 10 1989 2018
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 281 50 0.090 None 0.889 9 1 2008 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 0.080 None 0.875 8 1 2002 2019
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 23 38 0.070 None 1.000 7 1 2003 2016
CUI: C4746547
Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT 		disease Disease or Syndrome 3 43 0.600 None 1.000 7 24 1997 2019
CUI: C1859726
Disease: ARTERIAL TORTUOSITY SYNDROME
ARTERIAL TORTUOSITY SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 37 23 0.060 None 1.000 6 1 2003 2016
CUI: C2931254
Disease: Alport syndrome, recessive type
Alport syndrome, recessive type 		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 3 0.500 None 1.000 6 1996 2014
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 0.160 None 0.833 6 1 2002 2019
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 0.530 None 1.000 5 1997 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.050 None 1.000 5 2009 2019
CUI: C1519670
Disease: Tumor Angiogenesis
Tumor Angiogenesis 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 822 5 0.050 None 1.000 5 2003 2018
CUI: C1305904
Disease: Familial hematuria
Familial hematuria 		disease Disease or Syndrome 23 7 0.050 None 1.000 5 1 2005 2018
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 391 7 0.340 None 1.000 5 1995 2005
CUI: C0403529
Disease: Anti-Glomerular Basement Membrane Disease
Anti-Glomerular Basement Membrane Disease 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 32 3 0.050 None 1.000 5 1993 2019
CUI: C0022578
Disease: Keratoconus
Keratoconus 		disease Eye Diseases Disease or Syndrome 269 83 0.030 None 0.333 3 1 2009 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.030 None 1.000 3 2003 2017
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 0.030 None 1.000 3 2015 2018
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 378 36 0.030 None 1.000 3 1 2003 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 0.030 None 1.000 3 2015 2018