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: 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: C1305904
Disease: Familial hematuria
Familial hematuria 		disease Disease or Syndrome 23 7 0.130 None 1.000 3 2 2005 2017
CUI: C0239119
Disease: Lenticonus
Lenticonus 		disease Congenital Abnormality 6 1 0.110 None 1.000 1 1 2010 2010
CUI: C0746984
Disease: Obstructive ventilatory defect
Obstructive ventilatory defect 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2006 2006
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2011 2011
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: C4284120
Disease: Ecstasy related disorders
Ecstasy related disorders 		disease Mental or Behavioral Dysfunction 15 0.010 None 1.000 1 2010 2010
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0 1
CUI: C0445347
Disease: Thickening of glomerular basement membrane
Thickening of glomerular basement membrane 		phenotype Finding 7 0.100 None 0
CUI: C1408258
Disease: Kidney damage
Kidney damage 		phenotype Finding 5 6 0.100 None 0 1
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		phenotype Finding 65 0.100 None 0
CUI: C1865276
Disease: Global glomerulosclerosis
Global glomerulosclerosis 		phenotype Finding 2 1 0.100 None 0 1
CUI: C3278307
Disease: Diffuse glomerular basement membrane lamellation
Diffuse glomerular basement membrane lamellation 		phenotype Finding 3 0.100 None 0
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype Diagnostic Procedure 84 0.300 strong 0
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 59 442 0.300 limited 0
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		group Cardiovascular Diseases Disease or Syndrome 43 2 0.010 None 1.000 1 2010 2010
CUI: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia 		disease Cardiovascular Diseases Disease or Syndrome 47 3 0.010 None 1.000 1 2018 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.100 None 0 2
CUI: C1840376
Disease: Elevated mean arterial pressure
Elevated mean arterial pressure 		phenotype Cardiovascular Diseases Finding 10 1 0.100 None 0 1
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 21 8 0.010 None 1.000 1 1996 1996
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.010 None 1.000 1 2012 2012
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: 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