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: C3812396
Disease: Chronic idiopathic pulmonary fibrosis
Chronic idiopathic pulmonary fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 11 0.010 None 1.000 1 2001 2001
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 0.060 None 1.000 6 1 2011 2016
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 0.960 75 3 1992 2020
CUI: C4284120
Disease: Ecstasy related disorders
Ecstasy related disorders 		disease Mental or Behavioral Dysfunction 15 0.010 None 1.000 1 2010 2010
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: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 10 0.010 None 1.000 1 2013 2013
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 11 0.010 None 1.000 1 2013 2013
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 20 24 0.100 None 1.000 17 2 1998 2020
CUI: C0206654
Disease: Leiomyomatosis
Leiomyomatosis 		disease Neoplasms Neoplastic Process 21 0.060 None 0.667 6 1992 2013
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: 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 0.100 None 0.900 10 1 2005 2019
CUI: C1305904
Disease: Familial hematuria
Familial hematuria 		disease Disease or Syndrome 23 7 0.130 None 1.000 3 2 2005 2017
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 29 15 0.010 None 1.000 1 2010 2010
CUI: C0392163
Disease: Corneal erosion
Corneal erosion 		disease Infections; Eye Diseases Disease or Syndrome 33 1 0.100 None 0
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 2006 2016
CUI: C1442903
Disease: Exostoses
Exostoses 		phenotype Musculoskeletal Diseases Disease or Syndrome 37 0.010 None 1.000 1 2006 2006
CUI: C4049702
Disease: Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Focal Segmental Glomerulosclerosis, Not Otherwise Specified 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 42 6 0.300 strong 1.000 1 2017 2017
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		group Cardiovascular Diseases Disease or Syndrome 43 2 0.010 None 1.000 1 2010 2010
CUI: C4049711
Disease: Lepidic Predominant Adenocarcinoma
Lepidic Predominant Adenocarcinoma 		disease Neoplasms Neoplastic Process 46 0.010 None 1.000 1 2016 2016
CUI: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia 		disease Cardiovascular Diseases Disease or Syndrome 47 3 0.010 None 1.000 1 2018 2018
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 definitive 0.977 130 310 1990 2020
CUI: C1701940
Disease: Pneumonia, Ventilator-Associated
Pneumonia, Ventilator-Associated 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 56 3 0.010 None 1.000 1 2019 2019
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: C0340044
Disease: Acute exacerbation of chronic obstructive airways disease
Acute exacerbation of chronic obstructive airways disease 		phenotype Respiratory Tract Diseases Disease or Syndrome 63 1 0.010 None 1.000 1 2020 2020
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia 		disease Respiratory Tract Diseases Disease or Syndrome 64 2 0.010 None 1.000 1 2020 2020