rs727504412, JAG1

N. diseases: 3
Disease: Alagille Syndrome 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alagille Syndrome 1
CUI: C1956125
Disease: Alagille Syndrome 1
0.700 CausalMutation CLINVAR Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome. 25676721 2015
Alagille Syndrome 1
CUI: C1956125
Disease: Alagille Syndrome 1
0.700 CausalMutation CLINVAR Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features. 22488849 2012
Alagille Syndrome 1
CUI: C1956125
Disease: Alagille Syndrome 1
0.700 CausalMutation CLINVAR Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. 15712272 2005
Alagille Syndrome 1
CUI: C1956125
Disease: Alagille Syndrome 1
0.700 CausalMutation CLINVAR DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. 12442286 2002
Alagille Syndrome 1
CUI: C1956125
Disease: Alagille Syndrome 1
0.700 CausalMutation CLINVAR Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. 9207788 1997