NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554728529
rs1554728529 		1.000 9 136508989 frameshift variant A/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 19 1999 2019
dbSNP: rs1554728529
rs1554728529 		1.000 9 136508989 frameshift variant A/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 19 1999 2019
dbSNP: rs1554728529
rs1554728529 		1.000 9 136508989 frameshift variant A/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 19 1999 2019
dbSNP: rs1057515422
rs1057515422 		1.000 0.080 9 136513049 stop gained G/C snv
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2005 2016
dbSNP: rs1057515423
rs1057515423 		1.000 0.080 9 136506852 stop gained G/T snv
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2005 2016
dbSNP: rs774966208
rs774966208 		1.000 0.080 9 136523014 missense variant C/G;T snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2009 2016
dbSNP: rs1057523819
rs1057523819 		1.000 9 136517800 missense variant C/T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs11574906
rs11574906 		1.000 0.040 9 136501661 intron variant T/A snv 8.5E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1442744764
rs1442744764 		1.000 0.120 9 136496490 missense variant G/A snv 4.2E-06
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1448345366
rs1448345366 		1.000 9 136510689 missense variant G/A snv 4.2E-06 7.0E-06
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs1554727954
rs1554727954 		1.000 9 136505347 missense variant C/T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs1554728424
rs1554728424 		1.000 9 136508276 missense variant C/T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs1554729113
rs1554729113 		1.000 9 136513108 stop gained C/A;T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs1554729443
rs1554729443 		1.000 9 136515368 frameshift variant CA/- delins
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs1554730184
rs1554730184 		1.000 9 136519511 frameshift variant CAGT/GG delins
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs1554730670
rs1554730670 		1.000 9 136523177 stop gained G/A snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs182330532
rs182330532 		1.000 0.040 9 136506782 missense variant G/A snv 3.7E-04 5.7E-04
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs191645600
rs191645600 		1.000 0.040 9 136505728 missense variant G/T snv 5.8E-04 6.0E-04
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs201620358
rs201620358 		1.000 0.080 9 136510659 missense variant G/A snv 1.7E-03 2.2E-03
CUI: C0021828
Disease: Intestinal Atresia
Intestinal Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs557319054
rs557319054 		1.000 0.040 9 136502086 missense variant G/A;T snv 8.1E-06; 1.2E-05
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs587777735
rs587777735 		1.000 9 136519566 splice acceptor variant C/A snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2014 2014
dbSNP: rs587778569
rs587778569 		1.000 9 136505674 stop gained C/A;T snv 2.1E-05 4.2E-05
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs61751489
rs61751489 		1.000 0.040 9 136496886 missense variant C/T snv 3.1E-02 1.8E-02
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs61751543
rs61751543 		1.000 0.080 9 136506781 missense variant C/T snv 1.5E-02 1.6E-02
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs746342893
rs746342893 		1.000 9 136505028 stop gained C/A;T snv 5.1E-05
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2015 2015