Source: GWASCAT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 GeneticVariation GWASCAT Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk. 22137330

2013

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation GWASCAT Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. 23872634

2013

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation GWASCAT Brugada syndrome is a rare cardiac arrhythmia disorder, causally related to SCN5A mutations in around 20% of cases. 23872634

2013

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 GeneticVariation GWASCAT Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. 19081515

2009

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.900 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.900 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.900 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2017

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
0.900 GeneticVariation GWASCAT Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. 28869590

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0017638
Disease: Glioma
Glioma
0.900 GeneticVariation GWASCAT Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 28346443

2017

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.900 GeneticVariation GWASCAT Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. 27702942

2017

Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
Diabetes Mellitus, Insulin-Dependent
0.900 GeneticVariation GWASCAT Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. 25936594

2016

Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
Diabetes Mellitus, Insulin-Dependent
0.900 GeneticVariation GWASCAT Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. 25751624

2015

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.900 GeneticVariation GWASCAT Although RET is a well-established risk factor, a recent genome-wide association study (GWAS) of HSCR has identified NRG1 as an additional susceptibility locus. 25310821

2015

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.900 GeneticVariation GWASCAT In further subgroup analysis, the RET-CSGALNACT2-RASGEF1A genomic region was observed to have different significance levels among subgroups: short-segment (S-HSCR, corrP = 1.71×10(-5)), long-segment (L-HSCR, corrP = 6.66×10(-4)), and total colonic aganglionosis (TCA, corrP>0.05). 25310821

2015

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
0.900 GeneticVariation GWASCAT Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. 24509480

2014

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.900 GeneticVariation GWASCAT A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. 22936669

2013

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.900 GeneticVariation GWASCAT In all, the 16 replicated and newly discovered loci, in addition to the three coding NOD2 variants, accounted for 11.2% of the total genetic variance for CD risk in the AJ population. 22412388

2012

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.900 GeneticVariation GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233

2012

Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
Diabetes Mellitus, Insulin-Dependent
0.900 GeneticVariation GWASCAT Eleven of 52 non-MHC T1D loci showed evidence of association with at least one autoantibody at a false discovery rate of 16%: 16p11/IL27-IA-2A, 2q24/IFIH1-IA-2A and PCA, 2q32/STAT4-TPOA, 10p15/IL2RA-GADA, 6q15/BACH2-TPOA, 21q22/UBASH3A-TPOA, 1p13/PTPN22-TPOA, 2q33/CTLA4-TPOA, 4q27/IL2/TPOA, 15q14/RASGRP1/TPOA, and 12q24/SH2B3-GADA and TPOA. 21829393

2011

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
0.900 GeneticVariation GWASCAT In the combined analysis, we identified common genetic variants at six loci (GRB14, ST6GAL1, VPS26A, HMG20A, AP3S2 and HNF4A) newly associated with T2D (P = 4.1 × 10(-8) to P = 1.9 × 10(-11)). 21874001

2011

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.900 GeneticVariation GWASCAT Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. 20570966

2010

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.900 GeneticVariation GWASCAT Among the 116,161 single-nucleotide polymorphisms tested, an association with the known CD susceptibility gene NOD2, the 5q31 haplotype, and the recently reported CD locus at 5p13.1 was confirmed. 17684544

2010

Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
Diabetes Mellitus, Insulin-Dependent
0.900 GeneticVariation GWASCAT Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480

2010

Entrez Id: 6622
Gene Symbol: SNCA
SNCA
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation GWASCAT Association to PD at SNCA was replicated in the Japanese GWAS, confirming this as a major risk locus across populations. 19915575

2010

Entrez Id: 6622
Gene Symbol: SNCA
SNCA
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation GWASCAT Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. 20070850

2010