|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
Biomarker |
GENOMICS_ENGLAND |
Clinical utility gene card for: Alagille Syndrome (ALGS).
|
23881058 |
2014 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
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 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
Biomarker |
GENOMICS_ENGLAND |
Moyamoya vascular pattern in Alagille syndrome.
|
22759690 |
2012 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
Biomarker |
GENOMICS_ENGLAND |
Renal anomalies in Alagille syndrome: a disease-defining feature.
|
22105858 |
2012 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
Biomarker |
CTD_human |
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.
|
21532573 |
2011 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
GeneticVariation |
UNIPROT |
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
|
20437614 |
2010 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
GeneticVariation |
UNIPROT |
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
|
16575836 |
2006 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
GeneticVariation |
UNIPROT |
Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.
|
15712272 |
2005 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
GeneticVariation |
UNIPROT |
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.
|
12497640 |
2003 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
GeneticVariation |
UNIPROT |
DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.
|
12442286 |
2002 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
GeneticVariation |
UNIPROT |
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
|
11180599 |
2001 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
GeneticVariation |
UNIPROT |
Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.
|
11157803 |
2001 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
GeneticVariation |
UNIPROT |
Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.
|
11139247 |
2001 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
GeneticVariation |
UNIPROT |
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.
|
11058898 |
2000 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
GeneticVariation |
UNIPROT |
Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.
|
10220506 |
1999 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
GeneticVariation |
UNIPROT |
Jagged-1 mutation analysis in Italian Alagille syndrome patients.
|
10533065 |
1999 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
GeneticVariation |
UNIPROT |
Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.
|
9585603 |
1998 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
Biomarker |
CTD_human |
Mutations in the human Jagged1 gene are responsible for Alagille syndrome.
|
9207787 |
1997 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
GeneticVariation |
UNIPROT |
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.
|
9207788 |
1997 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
Biomarker |
CTD_human |
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.
|
9207788 |
1997 |
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
Alagille Syndrome 1
|
0.710 |
Biomarker |
GENOMICS_ENGLAND |
|
|
|