JAG1, jagged canonical Notch ligand 1, 182

N. diseases: 420; N. variants: 63
Disease: Alagille Syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555827653
rs1555827653
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		T 0.700 CausalMutation CLINVAR Jagged1 (JAG1): Structure, expression, and disease associations. 26548814 2016
dbSNP: rs1555827653
rs1555827653
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		T 0.700 CausalMutation CLINVAR Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome. 25676721 2015
dbSNP: rs1555827653
rs1555827653
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		T 0.700 CausalMutation CLINVAR JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome. 26076142 2015
dbSNP: rs1555827653
rs1555827653
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		T 0.700 CausalMutation CLINVAR Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. 10220506 1999