COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
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: C0431709
Disease: Adult type polycystic kidney disease type 1
Adult type polycystic kidney disease type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 1 0.010 None 1.000 1 1997 1997
CUI: C4022832
Disease: Mild proteinuria
Mild proteinuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 1 1 0.100 None 0 1
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		disease Disease or Syndrome 2 450 0.900 strong 1.000 64 450 1991 2017
CUI: C4024984
Disease: Diffuse leiomyomatosis
Diffuse leiomyomatosis 		disease Neoplasms Neoplastic Process 2 0.170 None 1.000 7 1993 2017
CUI: C1839884
Disease: Leiomyomatosis, esophageal and vulval, with nephropathy
Leiomyomatosis, esophageal and vulval, with nephropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 2 0.320 None 1.000 3 1992 2013
CUI: C0477728
Disease: Hereditary nephropathy
Hereditary nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C0746984
Disease: Obstructive ventilatory defect
Obstructive ventilatory defect 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C1865276
Disease: Global glomerulosclerosis
Global glomerulosclerosis 		phenotype Finding 2 1 0.100 None 0 1
CUI: C0344262
Disease: Anterior lenticonus
Anterior lenticonus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 3 0.110 None 1.000 1 2003 2003
CUI: C1739392
Disease: Thin glomerular basement membrane disease
Thin glomerular basement membrane disease 		disease Disease or Syndrome 3 0.010 None 1.000 1 2002 2002
CUI: C3278307
Disease: Diffuse glomerular basement membrane lamellation
Diffuse glomerular basement membrane lamellation 		phenotype Finding 3 0.100 None 0
CUI: C0038604
Disease: Subungual exostoses
Subungual exostoses 		disease Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Neoplastic Process 4 0.010 None 1.000 1 2006 2006
CUI: C0086533
Disease: Leiomyoma, Epithelioid
Leiomyoma, Epithelioid 		disease Neoplasms Neoplastic Process 4 0.300 None 1.000 1 2006 2006
CUI: C2931857
Disease: Double cortex
Double cortex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2009 2009
CUI: C4021775
Disease: High-frequency sensorineural hearing impairment
High-frequency sensorineural hearing impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2007 2007
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 0.300 strong 1.000 1 2003 2003
CUI: C1408258
Disease: Kidney damage
Kidney damage 		phenotype Finding 5 6 0.100 None 0 1
CUI: C0239119
Disease: Lenticonus
Lenticonus 		disease Congenital Abnormality 6 1 0.110 None 1.000 1 1 2010 2010
CUI: C1336117
Disease: Stage IA Lung Adenocarcinoma AJCC v7
Stage IA Lung Adenocarcinoma AJCC v7 		disease Neoplastic Process 7 3 0.010 None 1.000 1 2017 2017
CUI: C0445347
Disease: Thickening of glomerular basement membrane
Thickening of glomerular basement membrane 		phenotype Finding 7 0.100 None 0
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 0.310 strong 1.000 2 2003 2005
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 0.100 None 1.000 16 1 1996 2015
CUI: C2609059
Disease: Antisynthetase syndrome
Antisynthetase syndrome 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2001 2001
CUI: C1840376
Disease: Elevated mean arterial pressure
Elevated mean arterial pressure 		phenotype Cardiovascular Diseases Finding 10 1 0.100 None 0 1
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 0.340 strong 1.000 5 1 2003 2014