COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 277; N. variants: 62
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: C0302892
Disease: Congenital porencephaly
Congenital porencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 9 3 0.600 None 1.000 24 2 1977 2020
CUI: C4082173
Disease: Porencephaly
Porencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 3 0.400 None 1.000 23 2 1977 2020
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 34 3 0.200 None 1.000 22 2 2005 2020
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 18 2 1984 2015
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 15 0.900 None 1.000 18 15 1977 2018
CUI: C2673195
Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 3 18 0.770 None 0.909 11 18 2007 2019
CUI: C1867983
Disease: PORENCEPHALY, FAMILIAL
PORENCEPHALY, FAMILIAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 1 0.830 None 1.000 8 1 1977 2016
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.140 None 1.000 8 9 2011 2018
CUI: C1843512
Disease: BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE 		disease Disease or Syndrome 1 0.820 None 1.000 7 2005 2013
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.050 None 1.000 5 3 2013 2018
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 10 6 0.750 strong 1.000 5 2 2013 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 40 23 0.050 None 1.000 5 2006 2015
CUI: C4013035
Disease: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 		disease Disease or Syndrome 1 2 0.400 None 1.000 5 2 2006 2018
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 311 150 0.040 None 0.750 4 1 2006 2014
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.040 None 1.000 4 2 2008 2017
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.140 None 1.000 4 2014 2016
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.310 None 1.000 3 2009 2016
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 0.130 None 1.000 3 2013 2019
CUI: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 22 2 0.030 None 1.000 3 2010 2017
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
Axenfeld anomaly (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 7 3 0.510 strong 1.000 3 2007 2010
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.420 strong 1.000 3 2007 2017
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.030 None 1.000 3 2018 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2 2012 2016
CUI: C2930808
Disease: Familial vascular leukoencephalopathy
Familial vascular leukoencephalopathy 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.500 None 1.000 3 2005 2013
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.420 None 1.000 2 2013 2016