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2 classes
2011-05-26
21,533,175
Zhai G
2011-04-14
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21533175
Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.
Dehydroepiandrosterone sulphate levels
14,846 European ancestry individuals
NA
Affymetrix, Illumina [~ 2500000] (imputed)
8
hormone measurement
http://www.ebi.ac.uk/efo/EFO_0004730
GCST001038
Genome-wide genotyping array
null
false
NA
false
2009-11-03
19,862,010
Ganesh SK
2009-10-11
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19862010
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
Mean corpuscular hemoglobin
24,167 European ancestry individuals
9,456 European ancestry individuals
Affymetrix, Illumina [~ 2500000] (imputed)
9
mean corpuscular hemoglobin
http://www.ebi.ac.uk/efo/EFO_0004527
GCST000504
Genome-wide genotyping array
null
false
NA
false
2009-11-03
19,862,010
Ganesh SK
2009-10-11
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19862010
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
Hematocrit
24,167 European ancestry individuals
9,456 European ancestry individuals
Affymetrix, Illumina [~ 2500000] (imputed)
8
hematocrit
http://www.ebi.ac.uk/efo/EFO_0004348
GCST000502
Genome-wide genotyping array
null
false
NA
false
2009-11-03
19,862,010
Ganesh SK
2009-10-11
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19862010
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
Mean corpuscular volume
24,167 European ancestry individuals
9,456 European ancestry individuals
Affymetrix, Illumina [~ 2500000] (imputed)
17
erythrocyte volume
http://purl.obolibrary.org/obo/OBA_0003460
GCST000503
Genome-wide genotyping array
null
false
NA
false
2009-11-03
19,862,010
Ganesh SK
2009-10-11
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19862010
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
Hemoglobin
24,167 European ancestry individuals
9,456 European ancestry individuals
Affymetrix, Illumina [~ 2500000] (imputed)
7
hemoglobin measurement
http://www.ebi.ac.uk/efo/EFO_0004509
GCST000499
Genome-wide genotyping array
null
false
NA
false
2009-11-03
19,862,010
Ganesh SK
2009-10-11
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19862010
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
Other erythrocyte phenotypes
24,167 European ancestry individuals
9,456 European ancestry individuals
Affymetrix, Illumina [~ 2500000] (imputed)
4
erythrocyte count, mean corpuscular hemoglobin concentration
http://www.ebi.ac.uk/efo/EFO_0004305, http://www.ebi.ac.uk/efo/EFO_0004528
GCST000500
Genome-wide genotyping array
null
false
NA
false
2008-06-16
18,193,044
Kathiresan S
2008-01-13
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18193044
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
Triglycerides
2,758 European ancestry individuals
18,554 European ancestry individuals
Affymetrix [389878]
9
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000138
Genome-wide genotyping array
null
false
NA
false
2008-06-16
18,193,044
Kathiresan S
2008-01-13
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18193044
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
LDL cholesterol
2,758 European ancestry individuals
18,544 European ancestry individuals
Affymetrix [389878]
7
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000134
Genome-wide genotyping array
null
false
NA
false
2008-06-16
18,193,044
Kathiresan S
2008-01-13
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18193044
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
HDL cholesterol
2,758 European ancestry individuals
18,554 European ancestry individuals
Affymetrix [389878]
6
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000133
Genome-wide genotyping array
null
false
NA
false
2009-11-09
19,838,193
Han JW
2009-10-18
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19838193
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
Systemic lupus erythematosus
1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls
3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls
Illumina [493955]
18
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000507
Genome-wide genotyping array
null
false
NA
false
2010-10-12
20,862,305
Shu XO
2010-09-16
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/20862305
Identification of new genetic risk variants for type 2 diabetes.
Type 2 diabetes
1,019 Chinese ancestry cases, 1,710 Chinese ancestry controls
2,591 European ancestry cases, 3,052 European ancestry controls, 6,184 East Asian cases, 9,853 East Asian controls
Affymetrix [590887]
4
type 2 diabetes mellitus
http://purl.obolibrary.org/obo/MONDO_0005148
GCST000796
Genome-wide genotyping array
null
false
NA
false
2013-04-19
23,326,517
Holliday EG
2013-01-11
PLoS One
www.ncbi.nlm.nih.gov/pubmed/23326517
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
Age-related macular degeneration
3,772 European ancestry cases, 16,033 European ancestry controls
264 Asian ancestry cases, 3,926 Asian ancestry controls
Affymetrix, Illumina [~ 2500000] (imputed)
31
age-related macular degeneration
http://www.ebi.ac.uk/efo/EFO_0001365
GCST001814
Genome-wide genotyping array
null
false
NA
false
2008-09-16
18,193,043
Willer CJ
2008-01-13
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18193043
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
HDL cholesterol
8,656 European ancestry individuals
11,437 European ancestry individuals
Affymetrix, Illumina [~ 2261000] (imputed)
10
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000135
Genome-wide genotyping array
null
false
NA
false
2008-09-16
18,193,043
Willer CJ
2008-01-13
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18193043
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
LDL cholesterol
8,589 European ancestry individuals
12,981 European ancestry individuals
Affymetrix, Illumina [~ 2261000] (imputed)
7
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000132
Genome-wide genotyping array
null
false
NA
false
2008-09-16
18,193,043
Willer CJ
2008-01-13
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18193043
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
Triglycerides
8,684 European ancestry individuals
9,741 European ancestry individuals
Affymetrix, Illumina [~ 2261000] (imputed)
9
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000139
Genome-wide genotyping array
null
false
NA
false
2009-03-30
19,260,139
Polasek O
2009-02-01
Croat Med J
www.ncbi.nlm.nih.gov/pubmed/19260139
Genome-wide association study of anthropometric traits in Korcula Island, Croatia.
Anthropometric traits
898 Korculan (founder/genetic isolate) individuals
NA
Illumina [316730]
13
anthropometric measurement
http://www.ebi.ac.uk/efo/EFO_0004302
GCST000327
Genome-wide genotyping array
null
false
NA
false
2012-03-30
22,365,631
Greenwood TA
2012-02-22
Biol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/22365631
Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.
Temperament (bipolar disorder)
1,263 European ancestry cases, 1,434 European ancestry controls
NA
Affymetrix [703012]
13
behavior trait, personality trait
http://purl.obolibrary.org/obo/OBA_VT0010442, http://www.ebi.ac.uk/efo/EFO_0004365
GCST001419
Genome-wide genotyping array
null
false
NA
false
2008-09-10
17,903,298
Meigs JB
2007-09-19
BMC Med Genet
www.ncbi.nlm.nih.gov/pubmed/17903298
Genome-wide association with diabetes-related traits in the Framingham Heart Study.
Fasting plasma glucose
1,027 individuals
NA
Affymetrix [70897]
6
blood glucose amount
http://purl.obolibrary.org/obo/OBA_VT0000188
GCST000085
Genome-wide genotyping array
null
false
NA
false
2009-09-15
17,903,298
Meigs JB
2007-09-19
BMC Med Genet
www.ncbi.nlm.nih.gov/pubmed/17903298
Genome-wide association with diabetes-related traits in the Framingham Heart Study.
Diabetes (incident)
91 cases, 1,083 controls
NA
Affymetrix [70897]
1
diabetes mellitus
http://www.ebi.ac.uk/efo/EFO_0000400
GCST000108
Genome-wide genotyping array
null
false
NA
false
2008-09-10
17,903,298
Meigs JB
2007-09-19
BMC Med Genet
www.ncbi.nlm.nih.gov/pubmed/17903298
Genome-wide association with diabetes-related traits in the Framingham Heart Study.
Diabetes related insulin traits
Up to 982 individuals
NA
Affymetrix [70897]
4
insulin sensitivity measurement, Insulin resistance, HbA1c measurement, blood insulin amount
http://www.ebi.ac.uk/efo/EFO_0004471, http://purl.obolibrary.org/obo/HP_0000855, http://www.ebi.ac.uk/efo/EFO_0004541, http://purl.obolibrary.org/obo/OBA_VT0001560
GCST000077
Genome-wide genotyping array
null
false
NA
false
2008-12-11
19,043,545
Gieger C
2008-11-28
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/19043545
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
Metabolite levels
284 European ancestry male individuals
NA
Affymetrix [187454]
16
phenylalanine measurement, sphingolipid level, acylcarnitine measurement, carbohydrate measurement, tyrosine measurement, lipid measurement, phospholipid level, lysine in blood amount, serotonin level
http://www.ebi.ac.uk/efo/EFO_0005001, http://purl.obolibrary.org/obo/OBA_1000965, http://www.ebi.ac.uk/efo/EFO_0005059, http://www.ebi.ac.uk/efo/EFO_0004998, http://www.ebi.ac.uk/efo/EFO_0005058, http://www.ebi.ac.uk/efo/EFO_0004529, http://purl.obolibrary.org/obo/OBA_1001011, http://purl.obolibrary.org/obo/OBA_2020005...
GCST000274
Genome-wide genotyping array
null
false
NA
false
2008-06-16
18,193,046
Kooner JS
2008-01-13
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18193046
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
Triglycerides
1,005 European ancestry male individuals, 1,006 Indian Asian ancestry male individuals
6,827 European ancestry individuals, 2,528 Mexican ancestry individuals, 1,181 Indian Asian ancestry female individuals
Perlegen [up to 216774]
4
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000137
Genome-wide genotyping array
null
false
NA
false
2009-03-28
19,259,986
Hattori E
2009-03-02
Am J Med Genet B Neuropsychiatr Genet
www.ncbi.nlm.nih.gov/pubmed/19259986
Preliminary genome-wide association study of bipolar disorder in the Japanese population.
Bipolar disorder
107 Japanese ancestry cases, 107 Japanese ancestry controls
395 Japanese ancestry cases, 409 Japanese ancestry controls
Affymetrix [88671]
0
bipolar disorder
http://purl.obolibrary.org/obo/MONDO_0004985
GCST000350
Genome-wide genotyping array
null
false
NA
false
2012-01-14
22,180,457
Kiyotani K
2011-12-16
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/22180457
A genome-wide association study identifies locus at 10q22 associated with clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients in Japanese.
Response to tamoxifen in breast cancer
240 Japanese ancestry female cases
222 Japanese ancestry female cases
Illumina [470796]
1
response to antineoplastic agent
http://purl.obolibrary.org/obo/GO_0097327
GCST001357
Genome-wide genotyping array
null
false
NA
false
2008-06-16
17,804,836
Plenge RM
2007-09-05
N Engl J Med
www.ncbi.nlm.nih.gov/pubmed/17804836
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.
Rheumatoid arthritis
1,522 European ancestry cases, 1,850 European ancestry controls
1,053 European ancestry cases, 1,858 European ancestry controls
Illumina [297086]
3
rheumatoid arthritis
http://www.ebi.ac.uk/efo/EFO_0000685
GCST000070
Genome-wide genotyping array
null
false
NA
false
2008-11-26
18,978,792
Cooper JD
2008-11-02
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18978792
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
Type 1 diabetes
3,561 European ancestry cases, 4,646 European ancestry controls
6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families
Affymetrix [up to 335565]
14
type 1 diabetes mellitus
http://purl.obolibrary.org/obo/MONDO_0005147
GCST000258
Genome-wide genotyping array
null
false
NA
false
2008-09-12
17,903,300
Fox CS
2007-09-19
BMC Med Genet
www.ncbi.nlm.nih.gov/pubmed/17903300
Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.
Waist circumference
1,079 European ancestry individuals from 310 families
NA
Affymetrix [70897]
2
waist circumference
http://purl.obolibrary.org/obo/OBA_1001085
GCST000084
Genome-wide genotyping array
null
false
NA
false
2008-09-17
17,903,300
Fox CS
2007-09-19
BMC Med Genet
www.ncbi.nlm.nih.gov/pubmed/17903300
Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.
Body mass index
1,341 European ancestry individuals from 310 families
NA
Affymetrix [70897]
3
body mass index
http://www.ebi.ac.uk/efo/EFO_0004340
GCST000090
Genome-wide genotyping array
null
false
NA
false
2008-06-16
17,667,963
Shifman S
2007-07-31
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/17667963
A whole genome association study of neuroticism using DNA pooling.
Neuroticism
1,038 European ancestry cases, 1,016 European ancestry controls
831 European ancestry cases, 702 European ancestry controls
Affymetrix [452574]
1
neurotic disorder
http://www.ebi.ac.uk/efo/EFO_0004257
GCST000063
Genome-wide genotyping array
null
false
NA
false
2009-09-28
17,053,149
Papassotiropoulos A
2006-10-20
Science
www.ncbi.nlm.nih.gov/pubmed/17053149
Common Kibra alleles are associated with human memory performance.
Memory performance
341 European ancestry individuals
662 European ancestry individuals, 18 Hispanic, African American, Native American, and Asian ancestry individuals
Affymetrix [178390]
0
memory performance
http://www.ebi.ac.uk/efo/EFO_0004874
GCST000007
Genome-wide genotyping array
null
false
NA
false
2012-01-28
22,197,932
Paternoster L
2011-12-25
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22197932
Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.
Atopic dermatitis
5,606 European ancestry cases, 20,565 European ancestry controls
5,419 European ancestry cases, 19,833 European ancestry controls
Affymetrix, Illumina [~ 2500000] (imputed)
6
atopic eczema
http://www.ebi.ac.uk/efo/EFO_0000274
GCST001363
Genome-wide genotyping array
null
false
NA
false
2013-04-23
21,418,511
Deelen J
2011-03-21
Aging Cell
www.ncbi.nlm.nih.gov/pubmed/21418511
Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited.
Longevity
403 European ancestry cases, 1,670 European ancestry controls
1,578 European ancestry cases, 1,997 European ancestry controls, 2,168 cases, 3,915 controls
Illumina [516721]
1
life span determination trait
http://purl.obolibrary.org/obo/OBA_VT0005372
GCST001013
Genome-wide genotyping array
null
false
NA
false
2008-06-16
17,827,064
van Es MA
2007-09-07
Lancet Neurol
www.ncbi.nlm.nih.gov/pubmed/17827064
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.
Amyotrophic lateral sclerosis
461 European ancestry cases, 450 European ancestry controls
876 European ancestry cases, 906 European ancestry controls
Illumina [311946]
1
amyotrophic lateral sclerosis
http://purl.obolibrary.org/obo/MONDO_0004976
GCST000072
Genome-wide genotyping array
null
false
NA
false
2009-09-28
17,671,248
Dunckley T
2007-08-01
N Engl J Med
www.ncbi.nlm.nih.gov/pubmed/17671248
Whole-genome analysis of sporadic amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis
386 European ancestry cases, 542 European ancestry controls
901 cases and 1,025 controls of European, Hispanic, Asian, American Indian, Pacific Islander, and other ancestries
Affymetrix, Illumina [776955]
0
amyotrophic lateral sclerosis
http://purl.obolibrary.org/obo/MONDO_0004976
GCST000065
Genome-wide genotyping array
null
false
NA
false
2010-05-11
20,397,748
Liu JZ
2010-04-01
Twin Res Hum Genet
www.ncbi.nlm.nih.gov/pubmed/20397748
Genome-wide association study of height and body mass index in Australian twin families.
Body mass index
11,536 European ancestry individuals
NA
Illumina [559712] (imputed)
2
body mass index
http://www.ebi.ac.uk/efo/EFO_0004340
GCST000642
Genome-wide genotyping array
null
false
NA
false
2010-05-11
20,397,748
Liu JZ
2010-04-01
Twin Res Hum Genet
www.ncbi.nlm.nih.gov/pubmed/20397748
Genome-wide association study of height and body mass index in Australian twin families.
Height
11,536 European ancestry individuals
NA
Illumina [559712] (imputed)
8
body height
http://purl.obolibrary.org/obo/OBA_VT0001253
GCST000644
Genome-wide genotyping array
null
false
NA
false
2011-01-09
21,182,207
Salyakina D
2010-12-01
Autism Res
www.ncbi.nlm.nih.gov/pubmed/21182207
Variants in several genomic regions associated with asperger disorder.
Asperger disorder
848 individuals from 232 families
NA
Illumina [439282] (imputed)
5
Asperger syndrome
http://www.ebi.ac.uk/efo/EFO_0003757
GCST000904
Genome-wide genotyping array
null
false
NA
false
2008-09-15
18,159,244
Hinney A
2007-12-26
PLoS One
www.ncbi.nlm.nih.gov/pubmed/18159244
Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.
Obesity (early onset extreme)
487 European ancestry cases, 442 European ancestry controls
2,269 European ancestry individuals from 644 families
Affymetrix [440794]
1
obesity
http://www.ebi.ac.uk/efo/EFO_0001073
GCST000129
Genome-wide genotyping array
null
false
NA
false
2010-04-12
20,303,064
Houlihan LM
2010-03-18
Am J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/20303064
Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.
Activated partial thromboplastin time
1,431 European ancestry individuals
NA
Illumina [542050]
3
blood coagulation trait
http://purl.obolibrary.org/obo/OBA_VT0002551
GCST000631
Genome-wide genotyping array
null
false
NA
false
2011-12-20
22,116,812
Schrijvers EM
2011-11-23
Stroke
www.ncbi.nlm.nih.gov/pubmed/22116812
Genome-wide association study of vascular dementia.
Vascular dementia
67 European ancestry cases, 5,633 European ancestry controls
256 European ancestry cases, 5,839 European ancestry controls
Illumina [528127]
0
vascular dementia
http://www.ebi.ac.uk/efo/EFO_0004718
GCST001328
Genome-wide genotyping array
null
false
NA
false
2010-06-14
20,463,552
Wu C
2010-06-01
Pharmacogenet Genomics
www.ncbi.nlm.nih.gov/pubmed/20463552
Genome-wide examination of genetic variants associated with response to platinum-based chemotherapy in patients with small-cell lung cancer.
Response to platinum-based chemotherapy in small-cell lung cancer
245 Han Chinese ancestry cases
183 Han Chinese ancestry cases
Affymetrix [265996]
0
trait in response to platinum
http://purl.obolibrary.org/obo/OBA_2040037
GCST000688
Genome-wide genotyping array
null
false
NA
false
2012-09-20
22,807,686
Li S
2012-07-12
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/22807686
GWAS identifies novel susceptibility loci on 6p21.32 and 21q21.3 for hepatocellular carcinoma in chronic hepatitis B virus carriers.
Hepatocellular carcinoma
1,538 Han Chinese ancestry HBV-positive HCC cases, 1,465 Han Chinese ancestry chronic HBV carriers
4,431 Han Chinese ancestry HBV-positive HCC cases, 4,725 Han Chinese ancestry chronic HBV carriers
NR [523663]
3
hepatocellular carcinoma
http://www.ebi.ac.uk/efo/EFO_0000182
GCST001603
Genome-wide genotyping array
null
false
NA
false
2009-12-29
20,031,603
Marroni F
2009-08-01
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/20031603
A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
QT interval
2,325 European ancestry individuals
NA
Illumina [~ 318327]
14
QT interval
http://www.ebi.ac.uk/efo/EFO_0004682
GCST000452
Genome-wide genotyping array
null
false
NA
false
2009-12-29
20,031,603
Marroni F
2009-08-01
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/20031603
A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
RR interval (heart rate)
2,325 European ancestry individuals
NA
Illumina [~ 318327]
20
RR interval
http://www.ebi.ac.uk/efo/EFO_0004831
GCST000451
Genome-wide genotyping array
null
false
NA
false
2008-06-16
17,068,223
Duerr RH
2006-10-26
Science
www.ncbi.nlm.nih.gov/pubmed/17068223
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.
Inflammatory bowel disease
547 European ancestry cases, 548 European ancestry controls
1,151 cases from 595 families, 433 controls
Illumina [308332]
1
inflammatory bowel disease
http://www.ebi.ac.uk/efo/EFO_0003767
GCST000008
Genome-wide genotyping array
null
false
NA
false
2008-06-16
17,690,259
Thorleifsson G
2007-08-09
Science
www.ncbi.nlm.nih.gov/pubmed/17690259
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
Glaucoma (exfoliation)
75 European ancestry cases, 14,474 European ancestry controls
199 European ancestry cases, 198 European ancestry controls
Illumina [304250]
1
exfoliation syndrome
http://www.ebi.ac.uk/efo/EFO_0004235
GCST000067
Genome-wide genotyping array
null
false
NA
false
2010-06-02
20,451,256
Djurovic S
2010-05-05
J Affect Disord
www.ncbi.nlm.nih.gov/pubmed/20451256
A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample.
Bipolar disorder
194 European ancestry bipolar cases, 230 European ancestry schizophrenic cases, 336 European ancestry controls
435 European ancestry bipolar cases, 10,258 European ancestry controls
Affymetrix [up to 620390]
0
bipolar disorder
http://purl.obolibrary.org/obo/MONDO_0004985
GCST000674
Genome-wide genotyping array
null
false
NA
false
2010-09-24
20,708,005
Chalasani N
2010-08-10
Gastroenterology
www.ncbi.nlm.nih.gov/pubmed/20708005
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
Non-alcoholic fatty liver disease histology (lobular)
236 European ancestry cases
NA
Illumina [324623]
13
non-alcoholic fatty liver disease, cirrhosis of liver
http://www.ebi.ac.uk/efo/EFO_0003095, http://www.ebi.ac.uk/efo/EFO_0001422
GCST000766
Genome-wide genotyping array
null
false
NA
false
2010-09-24
20,708,005
Chalasani N
2010-08-10
Gastroenterology
www.ncbi.nlm.nih.gov/pubmed/20708005
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
Non-alcoholic fatty liver disease histology (other)
236 European ancestry cases
NA
Illumina [324623]
16
non-alcoholic fatty liver disease, serum alanine aminotransferase amount, cirrhosis of liver
http://www.ebi.ac.uk/efo/EFO_0003095, http://purl.obolibrary.org/obo/OBA_2050062, http://www.ebi.ac.uk/efo/EFO_0001422
GCST000765
Genome-wide genotyping array
null
false
NA
false
2010-09-24
20,708,005
Chalasani N
2010-08-10
Gastroenterology
www.ncbi.nlm.nih.gov/pubmed/20708005
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
Non-alcoholic fatty liver disease histology (AST)
236 European ancestry cases
NA
Illumina [324623]
6
non-alcoholic fatty liver disease, cirrhosis of liver
http://www.ebi.ac.uk/efo/EFO_0003095, http://www.ebi.ac.uk/efo/EFO_0001422
GCST000767
Genome-wide genotyping array
null
false
NA
false
2009-12-29
20,031,576
Dehghan A
2009-04-01
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/20031576
Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.
Fibrinogen
22,096 European ancestry individuals
17,686 European ancestry female individuals
Affymetrix, Illumina [~ 2661766] (imputed)
4
circulating fibrinogen levels
http://purl.obolibrary.org/obo/OBA_0000061
GCST000366
Genome-wide genotyping array
null
false
NA
false
2013-08-13
23,585,552
Kirin M
2013-04-11
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/23585552
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
Rhegmatogenous retinal detachment
867 European ancestry cases, 1,953 European ancestry controls
1,966 European ancestry cases, 5,918 European ancestry controls
Illumina [299737]
4
rhegmatogenous retinal detachment
http://www.ebi.ac.uk/efo/EFO_0005240
GCST001966
Genome-wide genotyping array
null
false
NA
false
2009-12-01
19,880,490
Tanaka T
2009-10-30
Blood
www.ncbi.nlm.nih.gov/pubmed/19880490
A genome-wide association analysis of serum iron concentrations.
Iron levels
1,919 European ancestry individuals
569 female indiviuals
Illumina [475322]
1
iron biomarker measurement
http://www.ebi.ac.uk/efo/EFO_0004461
GCST000517
Genome-wide genotyping array
null
false
NA
false
2010-10-07
20,852,633
Bolton KL
2010-09-19
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/20852633
Common variants at 19p13 are associated with susceptibility to ovarian cancer.
Ovarian cancer
1,768 European ancestry cases, 2,353 European ancestry controls
8,739 European ancestry cases, 10,831 European ancestry controls
Illumina [540573]
2
ovarian carcinoma
http://www.ebi.ac.uk/efo/EFO_0001075
GCST000800
Genome-wide genotyping array
null
false
NA
false
2013-07-12
23,565,137
Miyashita A
2013-04-02
PLoS One
www.ncbi.nlm.nih.gov/pubmed/23565137
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.
Alzheimer's disease (late onset)
891 Japanese ancestry cases, 844 Japanese ancestry controls
1,224 East Asian ancestry cases, 2,114 East Asian ancestry controls, 11,840 European ancestry cases, 10,931 European ancestry controls
Affymetrix [5877918] (imputed)
2
Alzheimer disease
http://purl.obolibrary.org/obo/MONDO_0004975
GCST001947
Genome-wide genotyping array
null
false
NA
false
2009-12-04
19,893,584
Kim JJ
2009-11-06
J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/19893584
Identification of 15 loci influencing height in a Korean population.
Height
8,842 Korean ancestry individuals
NA
Affymetrix [334546]
15
body height
http://purl.obolibrary.org/obo/OBA_VT0001253
GCST000522
Genome-wide genotyping array
null
false
NA
false
2010-10-06
20,844,546
Adachi S
2010-09-16
J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/20844546
Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population.
Endometriosis
696 Japanese ancestry cases, 825 Japanese ancestry controls
NA
Affymetrix [282838]
2
endometriosis
http://www.ebi.ac.uk/efo/EFO_0001065
GCST000797
Genome-wide genotyping array
null
false
NA
false
2011-06-01
21,540,310
Hofmann S
2011-05-03
Eur Respir J
www.ncbi.nlm.nih.gov/pubmed/21540310
A genome-wide association study reveals evidence of association with sarcoidosis at 6p12.1.
Sarcoidosis
381 European ancestry cases, 392 European ancestry controls
1,582 European ancestry cases, 1,783 European ancestry controls
Affymetrix [97088]
0
sarcoidosis
http://purl.obolibrary.org/obo/MONDO_0019338
GCST001064
Genome-wide genotyping array
null
false
NA
false
2011-06-01
21,507,922
Ramsuran V
2011-05-01
Clin Infect Dis
www.ncbi.nlm.nih.gov/pubmed/21507922
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
Platelet count
115 African ancestry HIV-negative individuals
NA
Illumina [874956]
10
platelet count
http://www.ebi.ac.uk/efo/EFO_0004309
GCST001061
Genome-wide genotyping array
null
false
NA
false
2011-06-01
21,507,922
Ramsuran V
2011-05-01
Clin Infect Dis
www.ncbi.nlm.nih.gov/pubmed/21507922
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
Neutrophil count
115 African ancestry HIV-negative individuals
NA
Illumina [874956]
20
neutrophil count
http://www.ebi.ac.uk/efo/EFO_0004833
GCST001059
Genome-wide genotyping array
null
false
NA
false
2010-07-01
20,541,252
Wang TJ
2010-06-09
Lancet
www.ncbi.nlm.nih.gov/pubmed/20541252
Common genetic determinants of vitamin D insufficiency: a genome-wide association study.
Vitamin D insufficiency
16,125 European ancestry individuals
17,871 European ancestry individuals
Affymetrix, Illumina [up to 2548976] (imputed)
3
vitamin D deficiency
http://www.ebi.ac.uk/efo/EFO_0003762
GCST000697
Genome-wide genotyping array
null
false
NA
false
2009-12-10
19,915,575
Simon-Sanchez J
2009-11-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19915575
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
Parkinson's disease
1,713 European ancestry cases, 3,978 European ancestry controls
3,361 European ancestry cases, 4,573 European ancestry controls
Illumina [463185]
10
Parkinson disease
http://purl.obolibrary.org/obo/MONDO_0005180
GCST000528
Genome-wide genotyping array
null
false
NA
false
2010-11-24
20,947,153
Ueta M
2010-10-12
J Allergy Clin Immunol
www.ncbi.nlm.nih.gov/pubmed/20947153
Association between prostaglandin E receptor 3 polymorphisms and Stevens-Johnson syndrome identified by means of a genome-wide association study.
Stevens-Johnson syndrome
60 Japanese ancestry cases, 300 Japanese ancestry controls
40 cases, 608 controls
Affymetrix [313924]
0
Stevens-Johnson syndrome
http://www.ebi.ac.uk/efo/EFO_0004276
GCST000832
Genome-wide genotyping array
null
false
NA
false
2011-05-28
21,529,783
Heath AC
2011-04-27
Biol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/21529783
A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.
Alcoholism (heaviness of drinking)
2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls
3,393 European ancestry individuals
Illumina [~ 300000]
8
alcohol dependence
http://purl.obolibrary.org/obo/MONDO_0007079
GCST001052
Genome-wide genotyping array
null
false
NA
false
2011-05-28
21,529,783
Heath AC
2011-04-27
Biol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/21529783
A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.
Alcoholism (12-month weekly alcohol consumption)
2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls
3,393 European ancestry individuals
Illumina [~ 300000]
2
alcohol dependence
http://purl.obolibrary.org/obo/MONDO_0007079
GCST001055
Genome-wide genotyping array
null
false
NA
false
2011-05-28
21,529,783
Heath AC
2011-04-27
Biol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/21529783
A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.
Alcoholism (alcohol use disorder factor score)
2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls
3,393 European ancestry individuals
Illumina [~ 300000]
6
alcohol dependence
http://purl.obolibrary.org/obo/MONDO_0007079
GCST001053
Genome-wide genotyping array
null
false
NA
false
2011-05-28
21,529,783
Heath AC
2011-04-27
Biol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/21529783
A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.
Alcoholism (alcohol dependence factor score)
2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls
3,393 European ancestry individuals
Illumina [~ 300000]
6
alcohol dependence
http://purl.obolibrary.org/obo/MONDO_0007079
GCST001054
Genome-wide genotyping array
null
false
NA
false
2013-09-27
23,562,540
Cruchaga C
2013-04-04
Neuron
www.ncbi.nlm.nih.gov/pubmed/23562540
GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
Alzheimer's disease biomarkers
591 European ancestry cases, 687 European ancestry controls
null
Illumina [5815690] (imputed)
6
Alzheimer disease
http://purl.obolibrary.org/obo/MONDO_0004975
GCST001951
Genome-wide genotyping array
null
false
NA
false
2011-04-04
21,326,311
Bhatnagar P
2011-02-17
J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/21326311
Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
F-cell distribution in sickle cell anaemia
440 African American individuals
NA
Illumina [660740]
11
fetal hemoglobin measurement
http://www.ebi.ac.uk/efo/EFO_0004576
GCST000982
Genome-wide genotyping array
null
false
NA
false
2015-05-23
21,326,860
Tsai FJ
2011-02-04
PLoS One
www.ncbi.nlm.nih.gov/pubmed/21326860
Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.
Kawasaki disease
250 Han Chinese ancestry cases, 446 Han Chinese ancestry controls
208 Han Chinese ancestry cases, 366 Han Chinese ancestry controls
Affymetrix [723638]
2
mucocutaneous lymph node syndrome
http://www.ebi.ac.uk/efo/EFO_0004246
GCST000962
Genome-wide genotyping array
null
false
NA
false
2010-10-05
20,825,314
Baratz KH
2010-09-09
N Engl J Med
www.ncbi.nlm.nih.gov/pubmed/20825314
E2-2 protein and Fuchs's corneal dystrophy.
Fuchs's corneal dystrophy
130 European ancestry cases, 260 European ancestry controls
150 cases, 150 controls
Illumina [~ 370000]
2
Fuchs endothelial corneal dystrophy
http://www.orpha.net/ORDO/Orphanet_98974
GCST000790
Genome-wide genotyping array
null
false
NA
false
2010-07-16
20,585,627
Eriksson N
2010-06-24
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/20585627
Web-based, participant-driven studies yield novel genetic associations for common traits.
Hair color
9,126 European ancestry individuals
NA
Illumina [535076]
12
hair color
http://www.ebi.ac.uk/efo/EFO_0003924
GCST000707
Genome-wide genotyping array
null
false
NA
false
2010-07-16
20,585,627
Eriksson N
2010-06-24
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/20585627
Web-based, participant-driven studies yield novel genetic associations for common traits.
Freckling
9,126 European ancestry individuals
NA
Illumina [535076]
4
freckles
http://www.ebi.ac.uk/efo/EFO_0003963
GCST000708
Genome-wide genotyping array
null
false
NA
false
2010-07-16
20,585,627
Eriksson N
2010-06-24
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/20585627
Web-based, participant-driven studies yield novel genetic associations for common traits.
Common traits (Other)
9,126 European ancestry individuals
NA
Illumina [535076]
16
sensory perception of taste, circadian rhythm, functional laterality, hair morphology, personality, braces, sensory perception of smell, Attached earlobe, Astigmatism, Sneeze
http://purl.obolibrary.org/obo/GO_0050909, http://purl.obolibrary.org/obo/GO_0007623, http://www.ebi.ac.uk/efo/EFO_0003889, http://www.ebi.ac.uk/efo/EFO_0005038, http://www.ebi.ac.uk/efo/EFO_0003947, http://www.ebi.ac.uk/efo/EFO_0004291, http://purl.obolibrary.org/obo/GO_0007608, http://purl.obolibrary.org/obo/HP_00099...
GCST000706
Genome-wide genotyping array
null
false
NA
false
2010-07-16
20,585,627
Eriksson N
2010-06-24
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/20585627
Web-based, participant-driven studies yield novel genetic associations for common traits.
Eye color
9,126 European ancestry individuals
NA
Illumina [535076]
8
eye color
http://www.ebi.ac.uk/efo/EFO_0003949
GCST000710
Genome-wide genotyping array
null
false
NA
false
2010-08-11
20,601,957
Uno S
2010-07-04
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/20601957
A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese.
Endometriosis
1,423 Japanese ancestry cases, 1,318 Japanese ancestry controls
484 Japanese ancestry cases, 3,974 Japanese ancestry controls
Illumina [460945]
2
endometriosis
http://www.ebi.ac.uk/efo/EFO_0001065
GCST000721
Genome-wide genotyping array
null
false
NA
false
2011-05-11
21,483,430
Carless MA
2011-04-12
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/21483430
Impact of DISC1 variation on neuroanatomical and neurocognitive phenotypes.
Neuranatomic and neurocognitive phenotypes
857 Mexican American individuals
NA
Illumina [543031]
1
neuroimaging measurement, South Texas Assessment of Neurocognition
http://www.ebi.ac.uk/efo/EFO_0004346, http://www.ebi.ac.uk/efo/EFO_0004785
GCST001037
Genome-wide genotyping array
null
false
NA
false
2010-09-28
20,802,025
Tang W
2010-08-27
Blood
www.ncbi.nlm.nih.gov/pubmed/20802025
Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.
Protein C levels
8,048 European ancestry individuals
1,376 European ancestry individuals
Affymetrix [2461269]
4
protein C measurement
http://www.ebi.ac.uk/efo/EFO_0004633
GCST000780
Genome-wide genotyping array
null
false
NA
false
2010-09-28
20,832,056
Ikeda M
2010-09-08
Biol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/20832056
Genome-wide association study of schizophrenia in a Japanese population.
Schizophrenia
560 Japanese ancestry cases, 548 Japanese ancestry controls
1,511 Japanese ancestry cases, 2,451 Japanese ancestry controls, 479 European ancestry cases, 2,938 European ancestry controls
Affymetrix [297645]
0
schizophrenia
http://purl.obolibrary.org/obo/MONDO_0005090
GCST000788
Genome-wide genotyping array
null
false
NA
false
2009-05-05
19,396,169
Cho YS
2009-04-26
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19396169
A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.
Height
8,842 Korean ancestry individuals
7,861 Korean ancestry individuals
Affymetrix [2156535] (imputed)
5
body height
http://purl.obolibrary.org/obo/OBA_VT0001253
GCST000380
Genome-wide genotyping array
null
false
NA
false
2009-05-05
19,396,169
Cho YS
2009-04-26
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19396169
A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.
Biomedical quantitative traits
8,842 Korean ancestry individuals
7,861 Korean ancestry individuals
Affymetrix [2156535] (imputed)
8
diastolic blood pressure, systolic blood pressure, bone tissue density, waist-hip ratio, body mass index, heart rate
http://www.ebi.ac.uk/efo/EFO_0006336, http://www.ebi.ac.uk/efo/EFO_0006335, http://purl.obolibrary.org/obo/OBA_1000110, http://www.ebi.ac.uk/efo/EFO_0004343, http://www.ebi.ac.uk/efo/EFO_0004340, http://purl.obolibrary.org/obo/OBA_1001087
GCST000381
Genome-wide genotyping array
null
false
NA
false
2009-03-31
19,300,500
Wilk JB
2009-03-20
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/19300500
A genome-wide association study of pulmonary function measures in the Framingham Heart Study.
Pulmonary function
7,691 European ancestry individuals
835 European ancestry individuals
Affymetrix [2540223] (imputed)
1
pulmonary function measurement
http://www.ebi.ac.uk/efo/EFO_0003892
GCST000362
Genome-wide genotyping array
null
false
NA
false
2013-08-30
23,594,818
Ikeda M
2013-04-17
Neuropsychopharmacology
www.ncbi.nlm.nih.gov/pubmed/23594818
Evidence for shared genetic risk between methamphetamine-induced psychosis and schizophrenia.
Psychosis (methamphetamine induced)
193 East Asian ancestry methamphetamine-dependent cases, 41 East Asian ancestry methamphetamine-dependent controls
NA
Affymetrix [244224]
1
methamphetamine-induced psychosis
http://www.ebi.ac.uk/efo/EFO_0005242
GCST001975
Genome-wide genotyping array
null
false
NA
false
2013-08-30
23,594,818
Ikeda M
2013-04-17
Neuropsychopharmacology
www.ncbi.nlm.nih.gov/pubmed/23594818
Evidence for shared genetic risk between methamphetamine-induced psychosis and schizophrenia.
Methamphetamine dependence
236 Japanese ancestry cases, 864 Japanese ancestry controls
NA
Affymetrix [244224]
1
schizophrenia
http://purl.obolibrary.org/obo/MONDO_0005090
GCST001972
Genome-wide genotyping array
null
false
NA
false
2010-09-22
20,711,177
Hamza TH
2010-08-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/20711177
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.
Parkinson's disease
2,000 European ancestry cases, 1,986 European ancestry controls
Up to 1,447 cases, 1,468 controls
Illumina [811597]
4
Parkinson disease
http://purl.obolibrary.org/obo/MONDO_0005180
GCST000772
Genome-wide genotyping array
null
false
NA
false
2009-04-22
19,367,585
Poduslo SE
2009-04-14
Am J Med Genet B Neuropsychiatr Genet
www.ncbi.nlm.nih.gov/pubmed/19367585
A genome screen of successful aging without cognitive decline identifies LRP1B by haplotype analysis.
Aging
89 European ancestry and African American successfully aged individuals, 227 European ancestry Alzheimers cases
NA
Affymetrix [469218]
1
aging
http://www.ebi.ac.uk/efo/EFO_0022597
GCST000378
Genome-wide genotyping array
null
false
NA
false
2008-12-01
18,940,312
Yuan X
2008-10-10
Am J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/18940312
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
Liver enzyme levels
7,751 European ancestry individuals
1,005 European ancestry individuals, 3,669 Asian Indian ancestry individuals
Affymetrix, Illumina [up to 496032]
11
enzyme/coenzyme activity trait
http://purl.obolibrary.org/obo/OBA_VT0005584
GCST000248
Genome-wide genotyping array
null
false
NA
false
2009-06-14
19,483,681
Rapley EA
2009-05-31
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19483681
A genome-wide association study of testicular germ cell tumor.
Testicular germ cell tumor
730 cases, 1,435 controls
571 cases, 1,806 controls
Illumina [307666]
6
testicular carcinoma
http://www.ebi.ac.uk/efo/EFO_0005088
GCST000414
Genome-wide genotyping array
null
false
NA
false
2009-04-02
19,305,409
Pfeufer A
2009-03-22
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19305409
Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
QT interval
15,842 European ancestry individuals
up to 13,602 individuals
Affymetrix, Illumina [2557000] (imputed)
12
QT interval
http://www.ebi.ac.uk/efo/EFO_0004682
GCST000364
Genome-wide genotyping array
null
false
NA
false
2009-06-16
19,488,044
Smith EN
2009-06-02
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/19488044
Genome-wide association study of bipolar disorder in European American and African American individuals.
Bipolar disorder
1,001 European ancestry cases, 1,033 European ancestry controls, 345 African American cases, 670 African American controls
1,550 European ancestry individuals from 250 families, 1,263 European ancestry cases, 431 European ancestry controls
Affymetrix [702044]
1
bipolar disorder
http://purl.obolibrary.org/obo/MONDO_0004985
GCST000417
Genome-wide genotyping array
null
false
NA
false
2009-03-29
19,282,985
Liu YZ
2009-03-13
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/19282985
Genome-wide association analyses identify SPOCK as a key novel gene underlying age at menarche.
Menarche (age at onset)
477 European ancestry females
854 European ancestry siblings, 762 European ancestry female individuals, 1,387 Chinese ancestry female individuals
Affymetrix [379319]
0
age at menarche
http://www.ebi.ac.uk/efo/EFO_0004703
GCST000355
Genome-wide genotyping array
null
false
NA
false
2008-06-16
17,634,449
Samani NJ
2007-07-18
N Engl J Med
www.ncbi.nlm.nih.gov/pubmed/17634449
Genomewide association analysis of coronary artery disease.
Coronary heart disease
1,926 European ancestry cases, 2,938 European ancestry controls
875 European ancestry cases, 1,644 European ancestry controls
Affymetrix [377857]
7
coronary artery disease
http://www.ebi.ac.uk/efo/EFO_0001645
GCST000057
Genome-wide genotyping array
null
false
NA
false
2009-02-06
19,169,254
Nair RP
2009-01-25
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19169254
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.
Psoriasis
1,359 European ancestry cases, 1,400 European ancestry controls
5,048 European ancestry cases, 5,041 European ancestry controls
Perlegen [~ 2500000] (imputed)
8
psoriasis
http://www.ebi.ac.uk/efo/EFO_0000676
GCST000322
Genome-wide genotyping array
null
false
NA
false
2009-03-03
19,151,714
Meyre D
2009-01-18
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19151714
Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.
Obesity
695 European ancestry adult cases, 731 European ancestry adult controls, 685 European ancestry child cases, 685 European ancestry child controls
1,171 European ancestry adult cases, 1,114 European ancestry adult controls, 4,417 European ancestry adults, 896 European ancestry child cases, 1,297 European ancestry child and young adult controls, 5,291 European ancestry children
Illumina [308846]
13
obesity
http://www.ebi.ac.uk/efo/EFO_0001073
GCST000317
Genome-wide genotyping array
null
false
NA
false
2008-06-16
16,252,231
Maraganore DM
2005-09-09
Am J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/16252231
High-resolution whole-genome association study of Parkinson disease.
Parkinson's disease
381 European ancestry cases, 363 European ancestry controls, 62 cases,79 controls, 1 Asian ancestry control from 443 sibships
269 European ancestry cases, 272 European ancestry controls, 62 cases, 60 controls, 1 Asian ancestry case
Perlegen [198345]
1
Parkinson disease
http://purl.obolibrary.org/obo/MONDO_0005180
GCST000002
Genome-wide genotyping array
null
false
NA
false
2011-01-13
21,160,077
Gudmundsson J
2010-12-15
Sci Transl Med
www.ncbi.nlm.nih.gov/pubmed/21160077
Genetic correction of PSA values using sequence variants associated with PSA levels.
Serum prostate-specific antigen levels
7,538 European ancestry individuals
2,373 European ancestry individuals
Illumina [304070]
7
prostate specific antigen amount
http://purl.obolibrary.org/obo/OBA_2050200
GCST000919
Genome-wide genotyping array
null
false
NA
false
2015-05-12
22,013,104
Melka MG
2011-10-19
J Clin Endocrinol Metab
www.ncbi.nlm.nih.gov/pubmed/22013104
Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure.
Obesity-related traits
598 French Canadian founder adolescent individuals
NA
Illumina [530011]
5
body mass index, obesity, fat pad mass
http://www.ebi.ac.uk/efo/EFO_0004340, http://www.ebi.ac.uk/efo/EFO_0001073, http://purl.obolibrary.org/obo/OBA_0004528
GCST001288
Genome-wide genotyping array
null
false
NA
false
2009-01-06
19,023,125
Potkin SG
2008-11-20
Schizophr Bull
www.ncbi.nlm.nih.gov/pubmed/19023125
A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype.
Brain imaging in schizophrenia (dorsolateral prefrontal cortex interaction)
46 European ancestry cases, 60 European ancestry controls, 18 cases, 14 controls
NA
Illumina [302783]
6
schizophrenia, dorsolateral prefrontal cortex functionality attribute
http://purl.obolibrary.org/obo/MONDO_0005090, http://purl.obolibrary.org/obo/OBA_2045277
GCST000271
Genome-wide genotyping array
null
false
NA
true
2008-06-16
17,052,657
Fung HC
2006-09-28
Lancet Neurol
www.ncbi.nlm.nih.gov/pubmed/17052657
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.
Parkinson's disease
267 European ancestry cases, 270 European ancestry controls
NA
Illumina [408803]
3
Parkinson disease
http://purl.obolibrary.org/obo/MONDO_0005180
GCST000005
Genome-wide genotyping array
null
false
NA
false
2010-03-07
20,159,113
Jakkula E
2010-02-12
Am J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/20159113
Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.
Multiple sclerosis
68 Finland founder cases, 136 Finland founder controls
83 Finland founder cases, 365 Finland founder controls 3,285 European ancestry cases, 6,379 European ancestry controls, 1,202 cases, 3,399 controls
Illumina [297343]
2
multiple sclerosis
http://purl.obolibrary.org/obo/MONDO_0005301
GCST000593
Genome-wide genotyping array
null
false
NA
false