DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Alagille Syndrome 1 ×

Variant: rs876661123 ×

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:

rs876661123

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

GeneticVariation

UNIPROT

Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA.

23801938

2013

dbSNP:

rs876661123

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

GeneticVariation

UNIPROT

Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.

20437614

2010

dbSNP:

rs876661123

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

GeneticVariation

UNIPROT

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.

16575836

2006

dbSNP:

rs876661123

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

GeneticVariation

UNIPROT

Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

15712272

2005

dbSNP:

rs876661123

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

GeneticVariation

UNIPROT

Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.

12497640

2003

dbSNP:

rs876661123

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

GeneticVariation

UNIPROT

DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.

12442286

2002

dbSNP:

rs876661123

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

GeneticVariation

UNIPROT

Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.

11157803

2001

dbSNP:

rs876661123

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

GeneticVariation

UNIPROT

Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.

11139247

2001

dbSNP:

rs876661123

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

GeneticVariation

UNIPROT

Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.

11180599

2001

dbSNP:

rs876661123

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

GeneticVariation

UNIPROT

Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.

11058898

2000

dbSNP:

rs876661123

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

GeneticVariation

UNIPROT

Jagged-1 mutation analysis in Italian Alagille syndrome patients.

10533065

1999

dbSNP:

rs876661123

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

GeneticVariation

UNIPROT

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.

10220506

1999

dbSNP:

rs876661123

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

GeneticVariation

UNIPROT

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.

9585603

1998

dbSNP:

rs876661123

JAG1

CUI:	C1956125
Disease:	Alagille Syndrome 1

Alagille Syndrome 1

0.700

GeneticVariation

UNIPROT

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.

9207788

1997