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.
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 4 143 0.800 None 1.000 35 81 1994 2017
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: C1567741
Disease: Alport Syndrome
Alport Syndrome
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 51 314 0.700 strong 0.982 57 2 1986 2020
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 0.600 strong 1.000 24 4 2001 2018
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 0.600 strong 1.000 14 1 1994 2019
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
disease Disease or Syndrome 3 43 0.600 None 1.000 7 24 1997 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: 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: 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: 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: 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 0.320 strong 1.000 2 2007 2017
CUI: C2931861
Disease: Hemorrhagic hereditary nephritis
Hemorrhagic 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 2 0.300 None 1.000 1 2003 2003
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 53 0.300 None 1.000 1 2015 2015
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment
phenotype Diagnostic Procedure 84 0.300 strong 0
CUI: C0848548
Disease: hypertensive nephropathy
hypertensive nephropathy
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 55 8 0.300 strong 0
CUI: C2931253
Disease: Alport syndrome, dominant type
Alport syndrome, dominant 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 2 0.300 None 0
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: 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: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.110 None 1.000 1 1 2003 2003
CUI: C0027697
Disease: Nephritis
Nephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 296 40 0.110 None 1.000 1 1995 1995
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: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 10 2003 2016
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 2 2 2017 2018
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness
phenotype Clinical Attribute 35 61 0.100 None 1.000 1 1 2018 2018