Source: INFERRED

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
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		disease 0.900 None 1.000 0 3 1977 2018
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C1867983
Disease: PORENCEPHALY, FAMILIAL
PORENCEPHALY, FAMILIAL 		disease 0.830 None 1.000 1 1 1977 2016
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C2673195
Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 		disease 0.770 None 0.909 0 18 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 0 0 2013 2019
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C1867327
Disease: RETINAL ARTERIES, TORTUOSITY OF
RETINAL ARTERIES, TORTUOSITY OF 		phenotype 0.700 None 1.000 0 1 2014 2014
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C3281105
Disease: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO 		disease 0.600 None 1.000 0 2 2007 2012
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 2 1 2006 2020
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group 0.480 None 0.889 0 0 2007 2019
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		disease 0.420 None 1.000 0 0 2013 2016
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 0 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 0 0 2007 2017
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C4013035
Disease: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 		disease 0.400 None 1.000 4 2 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 0 1 2007 2007
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		phenotype 0.400 None 0 0
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 0 0 2007 2007
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 0 0 2007 2010
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group 0.340 None 0.750 0 0 2014 2019
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		disease 0.200 None 1.000 0 0 2005 2020
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease 0.140 None 1.000 4 7 2011 2018
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0086543
Disease: Cataract
Cataract 		disease 0.140 None 1.000 0 0 2014 2016
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		disease 0.130 None 1.000 0 0 2013 2019
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		disease 0.120 None 1.000 0 1 2016 2016
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group 0.110 None 1.000 1 1 2017 2019
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease 0.110 None 1.000 0 1 2018 2018