DisGeNET - a database of gene-disease associations

rs1554728424, NOTCH1

N. diseases: 1

Disease: ADAMS-OLIVER SYNDROME 5 ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

ADAMS-OLIVER SYNDROME 5

CUI:	C4014970
Disease:	ADAMS-OLIVER SYNDROME 5

0.700

CausalMutation

CLINVAR

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

2018