JAG1, jagged canonical Notch ligand 1, 182

N. diseases: 420; N. variants: 63
Disease: Alagille Syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 CausalMutation disease CLINVAR Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families. 9585603 1998
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 CausalMutation disease CLINVAR Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome. 25676721 2015
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 CausalMutation disease CLINVAR Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome. 24748328 2014
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 CausalMutation disease CLINVAR Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. 15712272 2005
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 CausalMutation disease CLINVAR Jagged1 (JAG1): Structure, expression, and disease associations. 26548814 2016
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 CausalMutation disease CLINVAR Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. 10220506 1999
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 CausalMutation disease CLINVAR Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. 16575836 2006
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 CausalMutation disease CLINVAR JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome. 26076142 2015
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 CausalMutation disease CLINVAR Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features. 22488849 2012
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 CausalMutation disease CLINVAR Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. 9207788 1997
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 CausalMutation disease CLINVAR Jagged-1 mutation analysis in Italian Alagille syndrome patients. 10533065 1999
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 CausalMutation disease CLINVAR Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome. 22487239 2012
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 CausalMutation disease CLINVAR DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. 12442286 2002