×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
CausalMutation
disease
CLINVAR
Jagged1 (JAG1): Structure, expression, and disease associations.
26548814
2016
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
GeneticVariation
disease
BEFREE
Verify the involvement of JAG1 variants in the pathogenesis of congenital thyroid defects and the frequency of unexplained hypothyroidism in a series of ALGS1 patients.
26760175
2016
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
CausalMutation
disease
CLINVAR
Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.
25676721
2015
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
CausalMutation
disease
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
CausalMutation
disease
CLINVAR
JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.
26076142
2015
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
CausalMutation
disease
CLINVAR
Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.
24748328
2014
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
Biomarker
disease
GENOMICS_ENGLAND
Clinical utility gene card for: Alagille Syndrome (ALGS).
23881058
2014
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
GeneticVariation
disease
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
0.710
Biomarker
disease
GENOMICS_ENGLAND
Moyamoya vascular pattern in Alagille syndrome.
22759690
2012
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
Biomarker
disease
GENOMICS_ENGLAND
Renal anomalies in Alagille syndrome: a disease-defining feature.
22105858
2012
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
GeneticVariation
disease
CLINVAR
Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome.
22487239
2012
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
CausalMutation
disease
CLINVAR
Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.
22488849
2012
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
CausalMutation
disease
CLINVAR
Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome.
22487239
2012
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
Biomarker
disease
CTD_human
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.
21532573
2011
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
GeneticVariation
disease
UNIPROT
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
20437614
2010
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
GeneticVariation
disease
UNIPROT
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
16575836
2006
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
CausalMutation
disease
CLINVAR
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
16575836
2006
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
CausalMutation
disease
CLINVAR
Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.
15712272
2005
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
GeneticVariation
disease
UNIPROT
Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.
15712272
2005
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
GeneticVariation
disease
UNIPROT
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.
12497640
2003
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
CausalMutation
disease
CLINVAR
DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.
12442286
2002
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
GeneticVariation
disease
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
0.710
GeneticVariation
disease
UNIPROT
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
11180599
2001
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
GeneticVariation
disease
UNIPROT
Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.
11157803
2001
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.710
GeneticVariation
disease
UNIPROT
Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.
11139247
2001