COL4A2, collagen type IV alpha 2 chain, 1284

N. diseases: 131; N. variants: 38
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: C3280970
Disease: PORENCEPHALY 2
PORENCEPHALY 2 		disease Disease or Syndrome 1 4 0.600 None 1.000 5 4 2012 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 0.510 None 1.000 1 2012 2012
CUI: C3281105
Disease: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO 		disease Finding 2 2 0.300 None 1.000 1 2012 2012
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 0.300 None 0
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 0
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 0.300 None 0
CUI: C4707565
Disease: Bilateral polymicrogyria
Bilateral polymicrogyria 		disease Congenital Abnormality 3 0.010 None 1.000 1 2018 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 0.100 None 0 1
CUI: C4082173
Disease: Porencephaly
Porencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 3 0.560 strong 0.857 7 2012 2016
CUI: C0302892
Disease: Congenital porencephaly
Congenital porencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 9 3 0.360 None 0.833 6 2012 2016
CUI: C0027706
Disease: Hereditary nephritis
Hereditary nephritis 		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 9 1 0.010 None 1.000 1 2008 2008
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 10 6 0.010 None 1.000 1 2018 2018
CUI: C0221290
Disease: Chondromyxoid fibroma
Chondromyxoid fibroma 		disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2007 2007
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 0.010 None < 0.001 1 2007 2007
CUI: C2938912
Disease: Hyperintensity of cerebral white matter on MRI
Hyperintensity of cerebral white matter on MRI 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 15 1 0.100 None 0 1
CUI: C0026205
Disease: Miosis disorder
Miosis disorder 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 20 1 0.100 None 0 1
CUI: C3178801
Disease: Stroke, Lacunar
Stroke, Lacunar 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 24 11 0.020 None 1.000 2 3 2018 2019
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		disease Nervous System Diseases Disease or Syndrome 24 17 0.010 None 1.000 1 2016 2016
CUI: C1842247
Disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 25 35 0.100 None 1.000 1 1 2013 2013
CUI: C4082172
Disease: Porencephalic cyst
Porencephalic cyst 		disease Disease or Syndrome 28 2 0.100 None 0 1
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 0.160 None 0.833 6 2012 2016
CUI: C0917804
Disease: Arteriovenous Malformations, Cerebral
Arteriovenous Malformations, Cerebral 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 35 6 0.010 None 1.000 1 2020 2020
CUI: C0151699
Disease: Intracranial Hemorrhage
Intracranial Hemorrhage 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 40 2 0.100 None 0 1
CUI: C0018991
Disease: Hemiplegia
Hemiplegia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 41 6 0.100 None 0 1
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		phenotype Nutritional and Metabolic Diseases; Cardiovascular Diseases Pathologic Function 51 205 0.100 None 1.000 1 1 2011 2011