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.
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
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
disease Disease or Syndrome 1 0.820 None 1.000 7 2005 2013
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: 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: C1867327
Disease: RETINAL ARTERIES, TORTUOSITY OF
RETINAL ARTERIES, TORTUOSITY OF
phenotype Finding 1 1 0.700 None 1.000 1 1 2014 2014
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
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
disease Finding 2 2 0.600 None 1.000 2 2 2007 2012
Walker-Warburg congenital muscular dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 21 43 0.520 None 1.000 2 2011 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: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.500 strong 1.000 15 1 2006 2020
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
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: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group Nervous System Diseases Disease or Syndrome 189 17 0.480 None 0.889 9 2007 2019
CUI: C0018965
Disease: Hematuria
Hematuria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 235 31 0.420 strong 1.000 4 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: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.420 None 1.000 2 2013 2016
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: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 62 6 0.400 strong 1.000 11 2007 2020
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: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity
phenotype Finding 20 1 0.400 strong 1.000 3 2007 2010
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.400 strong 1.000 1 1 2007 2007
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 512 264 0.400 strong 1.000 1 2007 2007
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 122 78 0.400 None 0
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.370 strong 1.000 8 2007 2020