Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
Porencephaly, Type 1, Autosomal Dominant
disease 0.900 None 1.000 8 0 1977 2018
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
disease 0.820 None 1.000 1 0 2005 2013
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
disease 0.770 None 0.909 6 0 2007 2019
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0266484
Disease: Schizencephaly
Schizencephaly
disease 0.750 strong 1.000 1 0 2013 2019
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
disease 0.600 None 1.000 1 0 2007 2012
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
Axenfeld anomaly (disorder)
disease 0.510 strong 1.000 1 0 2007 2010
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group 0.500 strong 1.000 1 0 2006 2020
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0018965
Disease: Hematuria
Hematuria
phenotype 0.420 strong 1.000 3 0 2007 2010
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.420 strong 1.000 1 0 2007 2017
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity
phenotype 0.400 strong 1.000 3 0 2007 2010
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group 0.400 strong 1.000 1 0 2007 2007
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
group 0.400 strong 1.000 1 0 2007 2020
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
disease 0.400 None 1.000 1 0 2006 2018
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2007 2007
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.370 strong 1.000 1 0 2007 2020
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype 0.320 strong 1.000 1 0 2007 2017
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.320 strong 1.000 0 0 2014 2019
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0497327
Disease: Dementia
Dementia
disease 0.310 strong 1.000 1 0 2007 2016
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.300 strong 1.000 1 0 2007 2007
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 strong 0 0
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0