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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2006 2019
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		group Neoplasms Neoplastic Process 569 154 0.020 None 1.000 2 2014 2018
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.020 None 0.500 2 2014 2020
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR 		disease Eye Diseases Disease or Syndrome 125 27 0.020 None 1.000 2 2018 2019
CUI: C0264490
Disease: Acute respiratory failure
Acute respiratory failure 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 78 5 0.020 None 1.000 2 2017 2020
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.120 None 1.000 2 2 2014 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2006 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.020 None 1.000 2 2010 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2009 2009
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2006 2006
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 114 26 0.010 None 1.000 1 2013 2013
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: C0748355
Disease: Acute respiratory distress
Acute respiratory distress 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 147 6 0.010 None 1.000 1 2017 2017
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: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive 		group Respiratory Tract Diseases Disease or Syndrome 104 4 0.010 None 1.000 1 2020 2020
CUI: C0746984
Disease: Obstructive ventilatory defect
Obstructive ventilatory defect 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
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: 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: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 2013 2013
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: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 644 23 0.010 None 1.000 1 2009 2009
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: 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: 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: C4049711
Disease: Lepidic Predominant Adenocarcinoma
Lepidic Predominant Adenocarcinoma 		disease Neoplasms Neoplastic Process 46 0.010 None 1.000 1 2016 2016