DisGeNET - a database of gene-disease associations

NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64

Disease: Connective Tissue Diseases ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0009782
Disease:	Connective Tissue Diseases

Connective Tissue Diseases

0.400

Biomarker

group

GENOMICS_ENGLAND

Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.

16729972

2006

CUI:	C0009782
Disease:	Connective Tissue Diseases

Connective Tissue Diseases

0.400

GeneticVariation

group

CLINVAR