DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Alagille Syndrome 1 ×

Variant: rs1555827653 ×

Results per page

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

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1555827653

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

CausalMutation

CLINVAR

Jagged1 (JAG1): Structure, expression, and disease associations.

26548814

2016

dbSNP:

rs1555827653

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

CausalMutation

CLINVAR

Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.

25676721

2015

dbSNP:

rs1555827653

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

CausalMutation

CLINVAR

JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.

26076142

2015

dbSNP:

rs1555827653

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

CausalMutation

CLINVAR

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.

10220506

1999