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: C1865276
Disease: Global glomerulosclerosis
Global glomerulosclerosis 		phenotype Finding 2 1 0.100 None 0 1
CUI: C1840376
Disease: Elevated mean arterial pressure
Elevated mean arterial pressure 		phenotype Cardiovascular Diseases Finding 10 1 0.100 None 0 1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0 1
CUI: C0239937
Disease: Microscopic hematuria
Microscopic hematuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 15 4 0.100 None 0 3
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0
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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.100 None 0 2
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 92 15 0.100 None 0
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 194 18 0.100 None 0
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 64 5 0.100 None 0 1
CUI: C1408258
Disease: Kidney damage
Kidney damage 		phenotype Finding 5 6 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: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.100 None 0 1
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C0445347
Disease: Thickening of glomerular basement membrane
Thickening of glomerular basement membrane 		phenotype Finding 7 0.100 None 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: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		phenotype Finding 65 0.100 None 0
CUI: C0392163
Disease: Corneal erosion
Corneal erosion 		disease Infections; Eye Diseases Disease or Syndrome 33 1 0.100 None 0
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype Diagnostic Procedure 84 0.300 strong 0
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality 105 104 0.010 None 1.000 1 1992 1992
CUI: C0178664
Disease: Glomerulosclerosis (disorder)
Glomerulosclerosis (disorder) 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 221 3 0.010 None 1.000 1 1993 1993
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: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 198 59 0.010 None 1.000 1 1996 1996
CUI: C0027697
Disease: Nephritis
Nephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 296 40 0.150 None 1.000 5 2 1990 1997
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.410 strong 1.000 2 1 1995 1997