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: rs864622061
rs864622061 		1.000 9 136504951 frameshift variant -/A delins 4.9E-06
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2015 2015
dbSNP: rs864622059
rs864622059 		1.000 9 136516000 stop gained -/T delins
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2015 2015
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: rs3124594
rs3124594 		0.882 0.080 9 136501956 intron variant A/G snv 0.59 0.62
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs3124594
rs3124594 		0.882 0.080 9 136501956 intron variant A/G snv 0.59 0.62
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs3124594
rs3124594 		0.882 0.080 9 136501956 intron variant A/G snv 0.59 0.62
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs587777736
rs587777736 		0.882 0.240 9 136517908 missense variant A/G snv
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2014 2014
dbSNP: rs587777736
rs587777736 		0.882 0.240 9 136517908 missense variant A/G snv
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs587777736
rs587777736 		0.882 0.240 9 136517908 missense variant A/G snv
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries 0.700 1.000 1 2014 2014
dbSNP: rs587777736
rs587777736 		0.882 0.240 9 136517908 missense variant A/G snv
CUI: C1855652
Disease: Fetus Small for Gestational Age
Fetus Small for Gestational Age 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2014 2014
dbSNP: rs587777736
rs587777736 		0.882 0.240 9 136517908 missense variant A/G snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.800 1.000 1 2014 2014
dbSNP: rs6563
rs6563 		9 136494732 3 prime UTR variant A/G snv 0.51
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs864622057
rs864622057 		1.000 9 136517848 missense variant A/G snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2015 2015
dbSNP: rs864622060
rs864622060 		1.000 9 136505776 missense variant A/G snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2015 2015
dbSNP: rs1554728034
rs1554728034 		1.000 0.040 9 136505844 frameshift variant ACGAGCGT/- delins
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		Neoplasms 0.700 0
dbSNP: rs864622063
rs864622063 		1.000 9 136499144 frameshift variant AG/- delins
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2015 2015
dbSNP: rs863224901
rs863224901 		1.000 0.080 9 136513108 frameshift variant C/- del
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
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: rs759834538
rs759834538 		0.925 0.120 9 136517294 missense variant C/A snv 1.7E-05
CUI: C0023492
Disease: Leukemia, T-Cell
Leukemia, T-Cell 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs759834538
rs759834538 		0.925 0.120 9 136517294 missense variant C/A snv 1.7E-05
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs759834538
rs759834538 		0.925 0.120 9 136517294 missense variant C/A snv 1.7E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
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: 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