Source: ALL

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 GWASDB Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. 19081515

2009

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 GeneticVariation GWASDB Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk. 22137330

2013

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.900 GeneticVariation GWASDB Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756

2008

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.900 GeneticVariation GWASDB Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463

2010

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.900 GeneticVariation GWASDB Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 18587394

2008

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.900 GeneticVariation GWASDB 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 GWASDB 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: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.900 GeneticVariation GWASDB A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. 17068223

2006

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

2012

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.900 GeneticVariation GWASDB 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 GWASDB 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 GWASDB Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300

2007

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.900 GeneticVariation GWASDB A proportion of these were replicated in two independent German Caucasian samples, including the established CD loci NOD2 and IBD5. 17804789

2007

Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
Diabetes Mellitus, Insulin-Dependent
0.900 GeneticVariation GWASDB A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. 21980299

2012

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

2010

Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
Diabetes Mellitus, Insulin-Dependent
0.900 GeneticVariation GWASDB 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: 26191
Gene Symbol: PTPN22
PTPN22
Diabetes Mellitus, Insulin-Dependent
0.900 GeneticVariation GWASDB Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. 17554260

2007

Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
Diabetes Mellitus, Insulin-Dependent
0.900 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
0.900 GeneticVariation GWASDB Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. 23300278

2013

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

2014

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
0.900 GeneticVariation GWASDB 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: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.900 GeneticVariation GWASDB RET is a well-established susceptibility locus, although existing evidence strongly suggests additional loci contributing to sporadic HSCR. 19196962

2009

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.900 GeneticVariation GWASDB Age at the onset of motor symptoms in Huntington disease (HD) is determined largely by the length of a CAG repeat expansion in HTT but is also influenced by other genetic factors. 22387017

2012

Entrez Id: 6622
Gene Symbol: SNCA
SNCA
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation GWASDB Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. 22438815

2012

Entrez Id: 6622
Gene Symbol: SNCA
SNCA
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation GWASDB SNCA_ rs356220 was associated with both Sporadic-PD (OR = 1.37, P = 1 × 10(-9)) and Familial-PD (OR = 1.40, P = 2 × 10(-5)). 24511991

2014