Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

NOTCH RECEPTOR 1
Synonyms

NOTCH, DROSOPHILA, HOMOLOG OF, 1

NOTCH1

TRANSLOCATION-ASSOCIATED NOTCH HOMOLOG

AORTIC VALVE DISEASE 1

ADAMS-OLIVER SYNDROME 5

TAN1

ID

http://purl.bioontology.org/ontology/OMIM/190198

altLabel

NOTCH, DROSOPHILA, HOMOLOG OF, 1

NOTCH1

TRANSLOCATION-ASSOCIATED NOTCH HOMOLOG

AORTIC VALVE DISEASE 1

ADAMS-OLIVER SYNDROME 5

TAN1

cui

C1334889

C3887892

C4014970

Gene Locus

9q34.3

Gene Symbol

NOTCH1

AOVD1

AOS5

TAN1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/190198.0009

http://purl.bioontology.org/ontology/OMIM/190198.0007

http://purl.bioontology.org/ontology/OMIM/190198.0008

http://purl.bioontology.org/ontology/OMIM/190198.0001

http://purl.bioontology.org/ontology/OMIM/190198.0004

http://purl.bioontology.org/ontology/OMIM/190198.0002

http://purl.bioontology.org/ontology/OMIM/190198.0006

http://purl.bioontology.org/ontology/OMIM/190198.0003

http://purl.bioontology.org/ontology/OMIM/190198.0005

http://purl.bioontology.org/ontology/OMIM/190198.0012

http://purl.bioontology.org/ontology/OMIM/190198.0010

http://purl.bioontology.org/ontology/OMIM/190198.0011

MIMTYPEMEANING

Gene with known sequence

notation

190198

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

NOTCH RECEPTOR 1

tui

T047

T028

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