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: 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: 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: 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: C1280768
Disease: Axenfeld syndrome
Axenfeld syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 0.300 None 1.000 2 2007 2010
CUI: C2675650
Disease: Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
Brain Small Vessel Disease With Axenfeld-Rieger Anomaly 		disease Disease or Syndrome 1 0.300 None 1.000 2 2006 2007
CUI: C0599949
Disease: Arterial Stiffness
Arterial Stiffness 		phenotype Physiologic Function 1 1 0.100 None 1.000 1 1 2009 2009
CUI: C1867327
Disease: RETINAL ARTERIES, TORTUOSITY OF
RETINAL ARTERIES, TORTUOSITY OF 		phenotype Finding 1 1 0.700 None 1.000 1 1 2014 2014
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: 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: C3698507
Disease: Post-traumatic Porencephaly
Post-traumatic Porencephaly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Acquired Abnormality 2 0.500 None 1.000 4 1977 2013
CUI: C3281105
Disease: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO 		disease Finding 2 2 0.600 None 1.000 2 2 2007 2012
CUI: C4082301
Disease: Developmental Porencephaly
Developmental Porencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 2 0.300 None 1.000 2 1977 2013
CUI: C0221011
Disease: Malignant Atrophic Papulosis
Malignant Atrophic Papulosis 		disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2013 2013
CUI: C0270173
Disease: TORCH syndrome
TORCH syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C0392550
Disease: Hemiplegia, Infantile
Hemiplegia, Infantile 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2012 2012
CUI: C1263853
Disease: Paralytic stroke
Paralytic stroke 		disease Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
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: C2678503
Disease: AXENFELD-RIEGER SYNDROME, TYPE 3
AXENFELD-RIEGER SYNDROME, TYPE 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 27 0.300 None 1.000 2 2007 2010
CUI: C0242183
Disease: Jaundice, Hemolytic
Jaundice, Hemolytic 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 0.010 None 1.000 1 2016 2016
CUI: C2931870
Disease: Familial schizencephaly
Familial schizencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2015 2015
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: C1838577
Disease: Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 7 11 0.020 None 1.000 2 2011 2012
CUI: C3714873
Disease: Axenfeld-Rieger Syndrome, Type 1
Axenfeld-Rieger Syndrome, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 15 0.300 None 1.000 2 2007 2010
CUI: C0395887
Disease: Tympanosclerosis
Tympanosclerosis 		disease Otorhinolaryngologic Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2017 2017
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