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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.100 None 1.000 1 1 2016 2016
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: 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: 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: 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: 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: 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: 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: 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
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: C0344262
Disease: Anterior lenticonus
Anterior lenticonus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 3 0.100 None 0
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: 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: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.020 None 1.000 2 2013 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: C0242528
Disease: Azotemia
Azotemia 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 9 0.100 None 0
CUI: C0238157
Disease: Benign hematuria
Benign hematuria 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 0.020 None 1.000 2 2001 2002
CUI: C0243038
Disease: Carcinoma, Lewis Lung
Carcinoma, Lewis Lung 		disease Neoplasms Neoplastic Process; Experimental Model of Disease 188 0.010 None 1.000 1 2005 2005
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR 		disease Eye Diseases Disease or Syndrome 125 27 0.100 None 0
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness 		phenotype Clinical Attribute 35 61 0.100 None 1.000 1 1 2018 2018
CUI: C0544008
Disease: Chandler syndrome
Chandler syndrome 		disease Eye Diseases Disease or Syndrome 6 10 0.010 None 1.000 1 2012 2012
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2016 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 0.160 None 0.833 6 1 2002 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