Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs196941
rs196941
Entrez Id: 2081
Gene Symbol: ERN1
ERN1
CUI: C0010346
Disease:
Crohn Disease 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs196941
rs196941
Entrez Id: 2081
Gene Symbol: ERN1
ERN1
CUI: C0009324
Disease:
Ulcerative Colitis 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs196941
rs196941
Entrez Id: 2081
Gene Symbol: ERN1
ERN1
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs196941
rs196941
Entrez Id: 2081
Gene Symbol: ERN1
ERN1
CUI: C0033860
Disease:
Psoriasis 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs196941
rs196941
Entrez Id: 2081
Gene Symbol: ERN1
ERN1
CUI: C0008313
Disease:
Cholangitis, Sclerosing 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs1279653488
rs1279653488
Entrez Id: 2081
Gene Symbol: ERN1
ERN1
CUI: C1335177
Disease:
Ovarian Serous Adenocarcinoma 		0.700 GeneticVariation UNIPROT
dbSNP: rs1397145500
rs1397145500
Entrez Id: 2081
Gene Symbol: ERN1
ERN1
CUI: C0279702
Disease:
Conventional (Clear Cell) Renal Cell Carcinoma 		0.700 GeneticVariation UNIPROT
dbSNP: rs146710304
rs146710304
Entrez Id: 2081
Gene Symbol: ERN1
ERN1
CUI: C0278701
Disease:
Gastric Adenocarcinoma 		0.700 GeneticVariation UNIPROT
dbSNP: rs186305118
rs186305118
Entrez Id: 2081
Gene Symbol: ERN1
ERN1
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		0.700 GeneticVariation UNIPROT
dbSNP: rs199650082
rs199650082
Entrez Id: 2081
Gene Symbol: ERN1
ERN1
CUI: C0235833
Disease:
Congenital diaphragmatic hernia 		0.010 GeneticVariation BEFREE We identified a missense SNP rs199650082 (2756G→A, R919Q, p = 1.4 × 10<sup>-6</sup>, odds ratio [OR] = 18.2, 95% confidence interval [CI] = 7.1-46.9) in an endoplasmic reticulum to the nucleus signaling-1 (ERN1) gene on chromosome 17 to be associated with DIH in the ARV-only cohort. 28388302 2017