RF_ID |
Disease Name |
Species |
RF_Name |
Association |
Condition |
PMID |
1 |
Alzheimer's disease |
human |
5, 10-methylenetetrahydrofolate dehydrogenase gene (MTHFD1) |
RF |
|
20217437 |
2 |
Alzheimer’s Disease |
human |
5-HTT |
RF |
homozygous low activity genotype: ε4 alleles of the ApoE gene |
9106747 |
3 |
Alzheimer's Disease |
human |
5-LO |
RF |
A allele |
20110601 |
4 |
Amyotrophic Lateral Sclerosis |
human |
A90V TDP-43 variant |
RF |
|
18505686 |
5 |
Alzheimer’s Disease |
human |
ABCA7 |
RF |
Calculated by fixed effect model |
29504051 |
5 |
Alzheimer’s Disease |
human |
ABCA7 |
RF |
|
29589097 |
5 |
Alzheimer’s Disease |
human |
ABCA7 |
RF |
|
29589097 |
5 |
Alzheimer’s Disease |
human |
ABCA7 |
RF |
|
29589097 |
5 |
Alzheimer’s Disease |
human |
ABCA7 |
PF |
National Alzheimer’s Coordinating Center (NACC) cohort |
30128317 |
5 |
Alzheimer's disease |
human |
ABCA7 |
RF |
|
26795201 |
5 |
Alzheimer's disease |
human |
ABCA7 |
RF |
with both ApoEε4-carrier and aging being factors enhancing its risk |
24113560 |
6 |
Parkinson's Disease |
human |
ABCB1 |
RF |
|
24572589 |
7 |
Alzheimer’s Disease |
human |
ACE |
RF |
|
11078932 |
7 |
Alzheimer's Disease |
human |
ACE |
RF |
|
21537449 |
7 |
Parkinson's Disease |
human |
ACE |
RF |
|
12084438 |
7 |
Parkinson's Disease |
human |
ACE |
RF |
|
12084438 |
7 |
Alzheimer's Disease |
human |
ACE |
RF |
in subjects aged 73 years and above. |
19539712 |
7 |
Alzheimer's Disease |
human |
ACE |
RF |
in subjects aged 73 years and above. |
19539712 |
8 |
Alzheimer's disease |
human |
ACT |
RF |
especially in Caucasians |
22294107 |
8 |
Alzheimer's disease |
human |
ACT |
RF |
especially in Caucasians |
22294107 |
8 |
Alzheimer's disease |
human |
ACT |
RF |
A allele carriers are associated with increased susceptibility to AD in variant populations |
22272609 |
8 |
Alzheimer's disease |
human |
ACT |
RF |
A allele carriers are associated with increased susceptibility to AD in variant populations |
22272609 |
8 |
Multiple System Atrophy |
human |
ACT |
RF |
|
15907346 |
9 |
Parkinson's Disease |
human |
ADH1B |
RF |
|
30483881 |
10 |
Alzheimer's disease |
human |
ALDH2 |
RF |
dependent on APOE epsilon4 status in Chinese |
18201725 |
11 |
Alzheimer's disease |
human |
ALOX5 |
RF |
|
26944113 |
12 |
Alzheimer's disease |
human |
ANK1 |
RF |
|
26611832 |
13 |
Alzheimer's Disease |
human |
APOC1 |
RF |
using logistic regression、Dataset:FHS(Framingham Heart Study) |
29107063 |
13 |
Alzheimer's Disease |
human |
APOC1 |
RF |
using Cox regression、Dataset:CHS(Cardiovascular Health Study) |
29107063 |
13 |
Alzheimer's Disease |
human |
APOC1 |
RF |
using Cox regression、Dataset:FHS(Framingham Heart Study) |
29107063 |
13 |
Alzheimer's disease |
human |
APOC1 |
RF |
|
30443289 |
13 |
Alzheimer's disease |
human |
APOC1 |
RF |
not in African Americans |
24498013 |
14 |
Alzheimer's Disease |
human |
APOD |
RF |
in APOEε4 (-) subgroup |
23690001 |
15 |
Alzheimer's Disease |
human |
APOE |
RF |
|
22712640 |
15 |
Lewy body dementia |
human |
APOE |
RF |
|
12411758 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
ε4 allele |
29990559 |
15 |
Alzheimer’s Disease |
human |
APOE |
PF |
ε2 allele |
29990559 |
15 |
Alzheimer’s Disease |
human |
APOE |
PF |
ε3 allele |
29990559 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Genotype/Allele: A/A |
29990559 |
15 |
Alzheimer’s Disease |
human |
APOE |
PF |
Genotype/Allele: A/T |
29990559 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Genotype/Allele: A |
29990559 |
15 |
Alzheimer’s Disease |
human |
APOE |
PF |
Genotype/Allele: T |
29990559 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
ε4 allele |
29592889 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
ε4 allele |
30112972 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
ε4 allele; AD all |
29703883 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
ε4 allele; AD without depression |
29703883 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Genotype: ?3/?4; AD all |
29703883 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Genotype: ?3/?4; AD without depression |
29703883 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Genotype: ?4/?4; AD without depression |
29703883 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
PENN cohort; ε2 |
30128317 |
15 |
Alzheimer’s Disease |
human |
APOE |
PF |
PENN cohort; ε4 |
30128317 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
National Alzheimer’s Coordinating Center (NACC) cohort; ε2 |
30128317 |
15 |
Alzheimer’s Disease |
human |
APOE |
PF |
National Alzheimer’s Coordinating Center (NACC) cohort; ε4 |
30128317 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
ε4 allele |
7841371 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
ε2 allele |
7824157 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
ε2 allele |
29562509 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Genotype: ε3/4; adjusted for age and education, and stratified by gender |
30205398 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Genotype: ε4/4; adjusted for age and education, and stratified by gender |
30205398 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Genotype: ε4/-; adjusted for age and education, and stratified by gender |
30205398 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Genotype: ε3/4; adjusted for age and education, and stratified by gender |
30205398 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Genotype: ε4/-; adjusted for age and education, and stratified by gender |
30205398 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Genotype: ε3/4; adjusted for age and education, and stratified by gender |
30205398 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Genotype: ε4/4; adjusted for age and education, and stratified by gender |
30205398 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Genotype: ε4/-; adjusted for age and education, and stratified by gender |
30205398 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
ε4 allele; stronger in women |
30039745 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
ε4 allele |
7977635 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
ε4 allele; associated with homozygosity |
8128961 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
ε4 allele; associated with heterozygosity |
8128961 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
at least one epsilon 4 allele |
8786847 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Genotype: AA |
10213175 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Carrying at least one ε4 allele |
10213175 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Gender: female; Calculated by Step-wise model |
10213175 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Carrying at least one ε4 allele; Calculated by Step-wise model |
10213175 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Gender: female; Calculated by Forced entry model |
10213175 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Carrying at least one ε4 allele; Calculated by Forced entry model |
10213175 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
|
9008509 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
|
8993485 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
|
9811931 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
ε4 allele |
11376902 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
ε4 allele |
12160362 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
|
12095653 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
|
12095653 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
Th1/E47cs polymorphism allele |
12095653 |
15 |
Alzheimer’s Disease |
human |
APOE |
RF |
APOE ε4 |
10912224 |
15 |
Alzheimer's Disease |
human |
APOE |
RF |
using logistic regression、Dataset:CHS( Cardiovascular Health Study) |
29107063 |
15 |
Alzheimer's Disease |
human |
APOE |
RF |
using logistic regression、Dataset:HRS(Health and Retirement Study) |
29107063 |
15 |
Alzheimer's Disease |
human |
APOE |
RF |
using logistic regression、Dataset:LOADFS(Late Onset Alzheimer's Disease Family Study ) |
29107063 |
15 |
Alzheimer's Disease |
human |
APOE |
RF |
using Cox regression、Dataset:CHS(Cardiovascular Health Study) |
29107063 |
15 |
Alzheimer's Disease |
human |
APOE |
RF |
using Cox regression、Dataset:HRS(Health and Retirement Study) |
29107063 |
15 |
Alzheimer's Disease |
human |
APOE |
PF |
APOEε2ε3 |
25673977 |
15 |
Alzheimer's Disease |
human |
APOE |
RF |
APOE ε3ε4 |
25673977 |
15 |
Alzheimer's Disease |
human |
APOE |
RF |
APOE ε4ε4 |
25673977 |
15 |
Alzheimer's Disease |
human |
APOE |
RF |
A/A genotype |
19172988 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
30991302 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
30894904 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
30890475 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
30450407 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
28461186 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
27079723 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
27033052 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
26885125 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
The ε4 allele increases the risk of Alzheimer's disease by 5.114 times |
26835020 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
26738348 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
24326531 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
24281128 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
24045327 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
23887281 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
23871727 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
23871727 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
22311091 |
15 |
Alzheimer's disease |
human |
APOE |
PF |
|
22068907 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
22068907 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
21649613 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
21637534 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
21556001 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
The rate of APOE4 carrier status and the frequency of the ε4 allele were 47% and 27% for LOAD, 50% and 31% for EOAD, |
21552550 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
22737475 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
20682755 |
15 |
Alzheimer's disease |
human and mice |
APOE |
RF |
nutritional imbalance |
20413864 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
20385913 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
20376800 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
20217437 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
18560129 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
18446027 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
lowers age at onset of LOAD significantly |
18416843 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
Individuals with 2 epsilon 4 alleles had a higher risk for AD than subjects with only 1 such allele |
18317248 |
15 |
Alzheimer's disease |
human |
APOE |
PF |
|
18317248 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
18317248 |
15 |
Alzheimer's disease |
human |
APOE |
PF |
|
18317248 |
15 |
Creutzfeldt-Jakob disease |
human |
APOE |
RF |
ε4 allele |
7968026 |
15 |
Creutzfeldt-Jakob disease |
human |
APOE |
RF |
ε4 allele |
7968026 |
15 |
Creutzfeldt-Jakob disease |
human |
APOE |
RF |
ε4 allele |
7968026 |
15 |
Frontotemporal Dementia |
human |
APOE |
RF |
|
23887281 |
15 |
Frontotemporal Lobar Degeneration |
human |
APOE |
RF |
ε4 vs. ε3 allele model |
28487499 |
15 |
Frontotemporal Lobar Degeneration |
human |
APOE |
RF |
ε4 vs. ε2 allele model |
28487499 |
15 |
Frontotemporal Lobar Degeneration |
human |
APOE |
RF |
ε4 vs. ε2+ε3+ε4 allele model |
28487499 |
15 |
Frontotemporal Lobar Degeneration |
human |
APOE |
RF |
ε4 vs. ε2+ε3+ε4 carrier model |
28487499 |
15 |
Frontotemporal Lobar Degeneration |
human |
APOE |
RF |
ε4ε4 vs. ε3ε3 |
28487499 |
15 |
Frontotemporal Lobar Degeneration |
human |
APOE |
RF |
ε3ε4 vs. ε3ε3 |
28487499 |
15 |
Frontotemporal Lobar Degeneration |
human |
APOE |
RF |
ε3ε4+ε4ε4 vs. ε3ε3 |
28487499 |
15 |
Frontotemporal Lobar Degeneration |
human |
APOE |
RF |
ε4ε4 vs. ε3ε3+ε3ε4 |
28487499 |
15 |
Frontotemporal Lobar Degeneration |
human |
APOE |
RF |
ε2ε2 vs. ε3ε3 |
28487499 |
15 |
Frontotemporal Lobar Degeneration |
human |
APOE |
RF |
ε2ε2 vs. ε3ε3+ε3ε2 |
28487499 |
15 |
Frontotemporal Lobar Degeneration |
human |
APOE |
RF |
ε4 allele |
15904995 |
15 |
Frontotemporal Lobar Degeneration |
human |
APOE |
PF |
ε2 allele |
15904995 |
15 |
Frontotemporal Lobar Degeneration |
human |
APOE |
RF |
ε4 allele |
23887281 |
15 |
Lewy body dementia |
human |
APOE |
RF |
|
29263008 |
15 |
Lewy body dementia |
human |
APOE |
RF |
|
24973356 |
15 |
Lewy body dementia |
human |
APOE |
RF |
4 allele |
16956959 |
15 |
Lewy body dementia |
human |
ApoE |
RF |
epsilon 4 allele |
7970234 |
15 |
Lewy body dementia |
human |
APOE |
RF |
The rate of APOE4 carrier status and the frequency of the ε4 allele were 42% and 31% for DLB |
21552550 |
15 |
Alzheimer's Disease |
human |
APOE |
RF |
APOE haplotypes |
24596166 |
15 |
Alzheimer's Disease |
human |
ApoE |
RF |
?4 allele |
23038715 |
15 |
Frontotemporal Dementia |
human |
APOE |
PF |
|
12107813 |
15 |
Frontotemporal Dementia |
human |
APOE |
PF |
|
15904995 |
15 |
Frontotemporal Dementia |
human |
APOE |
RF |
|
15904995 |
15 |
Alzheimer's Disease |
human |
APOE |
RF |
|
19819468 |
15 |
progressive supranuclear palsy |
human |
APOE |
RF |
|
12552038 |
15 |
Frontotemporal Dementia |
human |
APOE |
RF |
|
28888721 |
15 |
Lewy body dementia |
human |
APOE |
PF |
|
30798004 |
16 |
Alzheimer's Disease |
human |
APOE ε2/ε3 |
PF |
|
28846757 |
16 |
Alzheimer's Disease |
human |
APOE ε2/ε3 |
PF |
|
28846757 |
15 |
Alzheimer's Disease |
human |
APOE |
PF |
ε3 allele |
24632849 |
17 |
Alzheimer's Disease |
human |
APOE ε3/ε4 |
RF |
from ages 55 to 85 years |
28846757 |
17 |
Alzheimer's Disease |
human |
APOE ε3/ε4 |
RF |
from ages 55 to 85 years |
28846757 |
15 |
Alzheimer's Disease |
human |
APOE |
RF |
|
29348964 |
15 |
Alzheimer's Disease |
human |
APOE |
RF |
|
25853819 |
15 |
Alzheimer's Disease |
human |
APOE |
RF |
ε4 allele |
24632849 |
15 |
Frontotemporal Dementia |
human |
APOE |
PF |
|
28888721 |
15 |
Lewy body dementia |
human |
APOE |
RF |
|
30798004 |
15 |
Lewy body dementia |
human |
APOE |
RF |
|
27312774 |
15 |
Frontotemporal Dementia |
human |
APOE |
RF |
|
23887281 |
18 |
Alzheimer's Disease |
human |
ApoE ε4/ε3 |
RF |
ε4/ε3 genotype |
24632849 |
19 |
Alzheimer's Disease |
human |
ApoE ε4/ε4 |
RF |
ε4/ε4 genotype |
24632849 |
20 |
Alzheimer’s Disease |
human |
APOE,ACT |
RF |
ACT Genotype: TT; One Copy of ε4 |
8993481 |
20 |
Alzheimer’s Disease |
human |
APOE,ACT |
RF |
ACT Genotype: TT; Two Copies of ε4 |
8993481 |
20 |
Alzheimer’s Disease |
human |
APOE,ACT |
RF |
ACT Genotype: AT; One Copy of ε4 |
8993481 |
20 |
Alzheimer’s Disease |
human |
APOE,ACT |
RF |
ACT Genotype: AT; Two Copies of ε4 |
8993481 |
20 |
Alzheimer’s Disease |
human |
APOE,ACT |
RF |
ACT Genotype: AA; One Copy of ε4 |
8993481 |
20 |
Alzheimer’s Disease |
human |
APOE,ACT |
RF |
ACT Genotype: AA; Two Copies of ε4 |
8993481 |
21 |
Frontotemporal Lobar Degeneration |
human |
APOE,TOMM40 |
RF |
APOE-TOMM40 haplotype: ε4 GAC |
23546992 |
22 |
Amyotrophic Lateral Sclerosis |
human |
APOE-2 |
PF |
|
15657798 |
15 |
Alzheimer's Disease |
human |
APOE |
RF |
|
29307083 |
23 |
Lewy body dementia |
human |
APP |
RF |
|
27312774 |
24 |
Alzheimer's Disease |
human |
Arg972 IRS1 |
RF |
AA genotype |
24589556 |
24 |
Alzheimer's Disease |
human |
Arg972 IRS1 |
RF |
GA genotype |
24589556 |
24 |
Alzheimer's Disease |
human |
Arg972 IRS1 |
RF |
A Allele |
24589556 |
25 |
Alzheimer's Disease |
human |
ASTN2 |
RF |
|
25410587 |
26 |
Amyotrophic Lateral Sclerosis |
human |
ATAXIN2 |
RF |
≥ 31 CAG-repeat length |
22425256 |
27 |
Alzheimer's Disease |
human |
ATP10B |
RF |
|
22950421 |
28 |
Alzheimer's Disease |
human |
ATP7B |
RF |
|
22950421 |
29 |
Alzheimer's Disease |
human |
ATP8B |
RF |
|
22950421 |
30 |
Alzheimer's Disease |
human |
ATP9B |
RF |
|
22950421 |
31 |
Amyotrophic lateral sclerosis |
human |
ATRN |
RF |
|
27455347 |
32 |
Amyotrophic lateral sclerosis |
human |
ATXN1 |
RF |
|
25023141 |
33 |
Amyotrophic lateral sclerosis |
human |
ATXN2 |
RF |
|
30847648 |
33 |
Amyotrophic lateral sclerosis |
human |
ATXN2 |
RF |
|
26208502 |
33 |
Amyotrophic lateral sclerosis |
human |
ATXN2 |
RF |
|
23197749 |
33 |
Amyotrophic Lateral Sclerosis |
human |
ATXN2 |
RF |
ATXN2 polyQ repeat expansions greater than 27 |
21741123 |
33 |
Amyotrophic Lateral Sclerosis |
human |
ATXN2 |
RF |
ATXN2 high-length alleles (≥29 CAG repeats) |
21670397 |
33 |
Amyotrophic Lateral Sclerosis |
human |
ATXN2 |
RF |
ATXN2 high-length alleles (≥29 CAG repeats) |
21670397 |
33 |
Frontotemporal Dementia |
human |
ATXN2 |
RF |
ATXN2 intermediary polyQ expansions |
25098532 |
33 |
Frontotemporal Lobar Degeneration |
human |
ATXN2 |
RF |
ATXN2 intermediary repeat length>=29 |
25098532 |
34 |
Alzheimer's disease |
human |
BACE1 |
RF |
with APOEε4 carrier status |
26550136 |
34 |
Alzheimer's disease |
human |
BACE1 |
RF |
in carrying the ApoE epsilon4 allele |
18182766 |
35 |
Alzheimer's disease |
human |
BACE2 |
RF |
Rheumatoid arthritis (RA) RA-SNPs Association with AD |
21595938 |
36 |
Alzheimer's Disease |
human |
BDNF C270T |
RF |
|
26136901 |
37 |
Alzheimer’s Disease |
human |
BIN1 |
RF |
Calculated by fixed effect model |
29504051 |
37 |
Alzheimer’s Disease |
human |
BIN1 |
RF |
Calculated by random effect model |
29504051 |
37 |
Alzheimer’s Disease |
human |
BIN1 |
RF |
Calculated by fixed effect model |
29504051 |
37 |
Alzheimer’s Disease |
human |
BIN1 |
RF |
Calculated by random effect model |
29504051 |
37 |
Alzheimer’s Disease |
human |
BIN1 |
RF |
Calculated by fixed effect model |
29504051 |
37 |
Alzheimer’s Disease |
human |
BIN1 |
PF |
National Alzheimer’s Coordinating Center (NACC) cohort |
30128317 |
37 |
Alzheimer’s Disease |
human |
BIN1 |
PF |
National Alzheimer’s Coordinating Center (NACC) cohort |
30128317 |
37 |
Alzheimer's disease |
human |
BIN1 |
RF |
|
26768592 |
37 |
Alzheimer's disease |
human |
BIN1 |
RF |
|
26768592 |
38 |
Amyotrophic lateral sclerosis |
human |
BIRC6 |
RF |
|
27455347 |
39 |
Frontotemporal Lobar Degeneration |
human |
C17orf89 |
RF |
Minor allele:C |
26154020 |
40 |
Amyotrophic lateral sclerosis |
human |
C1QTNF7 |
RF |
|
27455347 |
41 |
Alzheimer's Disease |
human |
C282Y HFE |
PF |
|
19429178 |
42 |
Frontotemporal Lobar Degeneration |
human |
C4orf27 |
RF |
Discovery stage |
30739198 |
43 |
Amyotrophic lateral sclerosis |
human |
C7orf57 |
RF |
|
25023141 |
44 |
Amyotrophic lateral sclerosis |
human |
C9orf72 |
RF |
|
25023141 |
44 |
Amyotrophic lateral sclerosis |
human |
C9orf72 |
RF |
|
29528390 |
44 |
Amyotrophic Lateral Sclerosis |
human |
C9orf72 |
RF |
|
20801718 |
44 |
Frontotemporal Lobar Degeneration |
human |
C9orf72 |
RF |
C9orf72 repeat expansions; All FTD patients with mutations had a positive family history for dementia or ALS |
25108559 |
44 |
Parkinson's Disease |
human |
C9ORF72 |
RF |
|
23845100 |
45 |
Alzheimer's Disease |
human |
CALHM1 |
RF |
|
20061624 |
45 |
Creutzfeldt-Jakob disease |
human |
CALHM1 |
RF |
Genotype:GG |
22874670 |
45 |
Creutzfeldt-Jakob disease |
human |
CALHM1 |
PF |
|
22874670 |
46 |
Parkinson's Disease |
human |
CARD15 |
RF |
|
17174426 |
47 |
Parkinson's Disease |
human |
CCDC62/HIP1R |
RF |
|
25818163 |
48 |
Parkinson's Disease |
human |
CCL2 |
RF |
|
30761072 |
48 |
Parkinson's Disease |
human |
CCL2 |
RF |
|
30761072 |
49 |
Parkinson's Disease |
human |
CD14 |
RF |
|
16337421 |
50 |
Parkinson's Disease |
rat |
CD157/BST1 |
RF |
|
24795584 |
51 |
Alzheimer's Disease |
human |
CD163L1 |
RF |
|
29177109 |
52 |
Alzheimer's disease |
human |
CD33 |
PF |
this association was not significant in Asians |
26795201 |
52 |
Alzheimer's disease |
human |
CD33 |
RF |
|
22382309 |
52 |
Alzheimer's disease |
human |
CD33 |
PF |
in APOE e4 carriers |
22167654 |
52 |
Alzheimer's disease |
human |
CD33 |
PF |
in APOE e4 carriers |
22167654 |
53 |
Alzheimer’s Disease |
human |
CD36 |
RF |
Genotype: GG |
30235742 |
53 |
Alzheimer’s Disease |
human |
CD36 |
RF |
Genotype: GG; Adjusting the physiological and biochemical factors, including age, FBG, BMI, SBP, DBP, HDLC [According to univariate analysis, there was a significant deviation (P<0.05)]. |
30235742 |
53 |
Alzheimer’s Disease |
human |
CD36 |
RF |
Genotype: Dominant |
30235742 |
53 |
Alzheimer’s Disease |
human |
CD36 |
RF |
Genotype: Dominant; Adjusting the physiological and biochemical factors, including age, FBG, BMI, SBP, DBP, HDLC [According to univariate analysis, there was a significant deviation (P<0.05)]. |
30235742 |
53 |
Alzheimer’s Disease |
human |
CD36 |
RF |
Genotype: Recessive |
30235742 |
53 |
Alzheimer’s Disease |
human |
CD36 |
PF |
Genotype: GT |
30235742 |
53 |
Alzheimer’s Disease |
human |
CD36 |
PF |
Genotype: GT; Adjusting the physiological and biochemical factors, including age, FBG, BMI, SBP, DBP, HDLC [According to univariate analysis, there was a significant deviation (P<0.05)]. |
30235742 |
53 |
Alzheimer’s Disease |
human |
CD36 |
PF |
Genotype: Dominant |
30235742 |
53 |
Alzheimer’s Disease |
human |
CD36 |
PF |
Genotype: Dominant; Adjusting the physiological and biochemical factors, including age, FBG, BMI, SBP, DBP, HDLC [According to univariate analysis, there was a significant deviation (P<0.05)]. |
30235742 |
54 |
Alzheimer's Disease |
human |
CDK5RAP2 |
RF |
|
29360470 |
54 |
Alzheimer's Disease |
human |
CDK5RAP2 |
PF |
for female AA carriers |
29360470 |
55 |
Frontotemporal Lobar Degeneration |
human |
CEP131 |
RF |
Minor allele:T |
26154020 |
55 |
Frontotemporal Lobar Degeneration |
human |
CEP131 |
RF |
Minor allele:T |
26154020 |
55 |
Frontotemporal Lobar Degeneration |
human |
CEP131 |
RF |
Minor allele:A |
26154020 |
55 |
Frontotemporal Lobar Degeneration |
human |
CEP131 |
RF |
Minor allele:A |
26154020 |
55 |
Frontotemporal Lobar Degeneration |
human |
CEP131 |
RF |
Minor allele:C |
26154020 |
56 |
Alzheimer's disease |
human |
CHAT |
RF |
|
27272392 |
56 |
Alzheimer's disease |
human |
CHAT |
RF |
|
27272392 |
56 |
Alzheimer's disease |
human |
CHAT |
RF |
|
18562794 |
57 |
Lewy body dementia |
human |
CHCHD2 |
RF |
|
26561290 |
57 |
Parkinson's Disease |
human |
CHCHD2 |
RF |
|
27626775 |
58 |
Amyotrophic Lateral Sclerosis |
human |
CHGB |
RF |
|
20007371 |
58 |
Amyotrophic Lateral Sclerosis |
human |
CHGB |
RF |
|
20007371 |
59 |
Alzheimer’s Disease |
human |
CHI3L1 |
PF |
CG+GG |
30223258 |
59 |
Alzheimer’s Disease |
human |
CHI3L1 |
PF |
G allele |
30223258 |
59 |
Alzheimer’s Disease |
human |
CHI3L1 |
RF |
TT |
30223258 |
59 |
Alzheimer’s Disease |
human |
CHI3L1 |
RF |
CT+TT |
30223258 |
59 |
Alzheimer’s Disease |
human |
CHI3L1 |
RF |
T allele |
30223258 |
60 |
Creutzfeldt-Jakob disease |
human |
CHN2 |
RF |
|
22210626 |
61 |
Amyotrophic lateral sclerosis |
human |
CHRNA4 |
RF |
|
22873564 |
62 |
Alzheimer's disease |
human |
chromosome 12q24.22 |
RF |
|
24361131 |
63 |
Multiple System Atrophy |
human |
chromosome 22 |
RF |
|
29187220 |
63 |
Multiple System Atrophy |
human |
chromosome 22 |
RF |
|
29187220 |
64 |
Multiple System Atrophy |
human |
chromosome 4 |
RF |
|
29187220 |
64 |
Multiple System Atrophy |
human |
chromosome 4 |
RF |
|
29187220 |
64 |
Multiple System Atrophy |
human |
chromosome 4 |
RF |
|
29187220 |
64 |
Multiple System Atrophy |
human |
chromosome 4 |
RF |
|
29187220 |
64 |
Multiple System Atrophy |
human |
chromosome 4 |
RF |
|
29187220 |
65 |
Multiple System Atrophy |
human |
chromosome 5 |
RF |
|
29187220 |
65 |
Multiple System Atrophy |
human |
chromosome 5 |
RF |
|
29187220 |
66 |
Alzheimer's disease |
human |
chromosome 9p21.3 |
RF |
|
20427016 |
66 |
Alzheimer's disease |
human |
chromosome 9p21.3 |
RF |
in non-APOE epsilon4 |
20427016 |
66 |
Alzheimer's Disease |
human |
Chromosome 9p21.3 |
RF |
C allele |
19664850 |
67 |
Alzheimer's Disease |
human |
CLECL1 |
RF |
|
29177109 |
68 |
Alzheimer’s Disease |
human |
CLU |
RF |
Calculated by fixed effect model |
29504051 |
68 |
Alzheimer’s Disease |
human |
CLU |
RF |
Calculated by fixed effect model |
29504051 |
68 |
Alzheimer’s Disease |
human |
CLU |
RF |
Calculated by fixed effect model |
29504051 |
68 |
Alzheimer’s Disease |
human |
CLU |
RF |
Calculated by random effect model |
29504051 |
68 |
Alzheimer's disease |
human |
CLU |
RF |
|
26757186 |
68 |
Alzheimer's disease |
human |
CLU |
PF |
|
26757186 |
69 |
Lewy body dementia |
human |
CNTN1 |
RF |
|
29263008 |
70 |
Parkinson's Disease |
human |
COMT |
PF |
not Caucasian populations |
23466833 |
70 |
Parkinson's Disease |
human |
COMT |
PF |
not Caucasian populations |
23466833 |
70 |
Parkinson's Disease |
human |
COMT |
RF |
not Caucasian populations |
23466833 |
70 |
Parkinson's Disease |
human |
COMT |
RF |
|
9503277 |
71 |
Alzheimer's Disease |
human |
COMT Met allele |
RF |
without APOE ε4 allele carriers |
24575113 |
71 |
Alzheimer's Disease |
human |
COMT Met allele |
RF |
without APOE ε4 allele carriers;in men |
24575113 |
72 |
Multiple System Atrophy |
human |
COQ2 |
RF |
|
27123473 |
73 |
Alzheimer's Disease |
human |
COX-2 |
RF |
GG allele |
20110601 |
73 |
Alzheimer's Disease |
human |
COX-2 |
RF |
G allele |
20110601 |
74 |
Alzheimer’s Disease |
human |
CR1 |
RF |
Calculated by fixed effect model |
29504051 |
74 |
Alzheimer’s Disease |
human |
CR1 |
RF |
Calculated by fixed effect model |
29504051 |
74 |
Alzheimer’s Disease |
human |
CR1 |
RF |
Calculated by fixed effect model |
29504051 |
74 |
Alzheimer’s Disease |
human |
CR1 |
PF |
PENN cohort |
30128317 |
74 |
Alzheimer’s Disease |
human |
CR1 |
PF |
National Alzheimer’s Coordinating Center (NACC) cohort |
30128317 |
75 |
Amyotrophic lateral sclerosis |
human |
CREB3L2 |
RF |
|
27455347 |
76 |
Alzheimer’s Disease |
human |
CST3 |
RF |
CST3-A allele; APOE ε4 carrier |
11711204 |
76 |
Alzheimer’s Disease |
human |
CST3 |
RF |
CST3-A allele; Non-APOE ε4 carrier |
11711204 |
76 |
Alzheimer’s Disease |
human |
CST3 |
RF |
Caucasians |
10993992 |
76 |
Frontotemporal Lobar Degeneration |
human |
CST3 |
RF |
negative for the presence of PGRN mutations;haplotype B |
19674067 |
76 |
Frontotemporal Lobar Degeneration |
human |
CST3 |
RF |
negative for the presence of PGRN mutations;AB/BB genotypes |
19674067 |
77 |
Alzheimer's Disease |
human |
CTNNA1 |
RF |
|
29177109 |
78 |
Alzheimer's disease |
human |
CTSD |
RF |
|
24281128 |
78 |
Creutzfeldt-Jakob disease |
human |
CTSD |
RF |
Genotype:CC |
18426579 |
78 |
Creutzfeldt-Jakob disease |
human |
CTSD |
RF |
Genotype:CT |
18426579 |
79 |
Amyotrophic lateral sclerosis |
human |
CX3CR1 |
RF |
|
24806473 |
79 |
Amyotrophic lateral sclerosis |
human |
CX3CR1 |
RF |
|
24806473 |
79 |
Amyotrophic lateral sclerosis |
human |
CX3CR1 |
RF |
|
24806473 |
80 |
Alzheimer's disease |
human |
CYP17A1 |
PF |
in APOE e4 carriers |
26940238 |
80 |
Alzheimer's disease |
human |
CYP17A1 |
RF |
in APOE e4 carriers |
26940238 |
81 |
Alzheimer's disease |
human |
CYP19A1 |
RF |
|
27583919 |
82 |
Alzheimer’s Disease |
human |
CYP2D6 |
RF |
CYP2D6B allele; in the Lewy body variant of AD |
7818242 |
83 |
Alzheimer's Disease |
human |
CYP2J2 |
RF |
total;Allele T |
25796175 |
83 |
Alzheimer's Disease |
human |
CYP2J2 |
RF |
total;Genotype GT + TT |
25796175 |
84 |
Alzheimer’s Disease |
human |
CYP46A1 |
RF |
Overall; Genotype:TC; logistic regression model |
29516283 |
84 |
Alzheimer’s Disease |
human |
CYP46A1 |
RF |
APOE ε4 carrier; Genotype:CC |
29516283 |
84 |
Alzheimer’s Disease |
human |
CYP46A1 |
RF |
Overall; Genotype:TT; dominant mode |
29516283 |
84 |
Alzheimer’s Disease |
human |
CYP46A1 |
RF |
APOE ε4 carrier; Genotype:TT; dominant mode |
29516283 |
84 |
Alzheimer’s Disease |
human |
CYP46A1 |
RF |
APOE ε4 carrier; Genotype:CC; additive model |
29516283 |
84 |
Alzheimer’s Disease |
human |
CYP46A1 |
RF |
APOE ε3/ε4; Genotype:TT; dominant mode |
29516283 |
84 |
Alzheimer’s Disease |
human |
CYP46A1 |
RF |
APOE ε3/ε4; Genotype:CC; additive model |
29516283 |
84 |
Alzheimer's Disease |
human |
CYP46A1 |
RF |
CYP46A1 gene variations |
19286353 |
84 |
Alzheimer's disease |
human |
CYP46A1 |
RF |
|
22528464 |
85 |
Alzheimer's disease |
human |
DAPK1 |
PF |
especially the homozygotes |
21167819 |
85 |
Alzheimer's disease |
human |
DAPK1 |
RF |
|
21167819 |
86 |
Amyotrophic lateral sclerosis |
human |
DCC |
RF |
|
27455347 |
87 |
Frontotemporal Lobar Degeneration |
human |
DCUN1D1 |
RF |
Genotype:GG |
19473369 |
88 |
Parkinson's Disease |
human |
DGCR8 |
RF |
|
24018986 |
88 |
Parkinson's Disease |
human |
DGCR8 |
RF |
|
24018986 |
89 |
Amyotrophic lateral sclerosis |
human |
DISC1 |
RF |
|
25023141 |
90 |
Parkinson's Disease |
human |
DMT1 |
RF |
|
25817364 |
90 |
Parkinson's Disease |
human |
DMT1 |
RF |
|
21777657 |
91 |
Amyotrophic lateral sclerosis |
human |
DPP6 |
RF |
|
25023141 |
91 |
Frontotemporal Lobar Degeneration |
human |
DPP6 |
RF |
Discovery stage |
30739198 |
91 |
Frontotemporal Lobar Degeneration |
human |
DPP6 |
RF |
Discovery stage |
30739198 |
92 |
Amyotrophic lateral sclerosis |
human |
DPYSL3(CRMP4) |
RF |
|
23568759 |
93 |
Alzheimer's Disease |
human |
DR4 |
PF |
the GA genotype |
25207117 |
93 |
Alzheimer's Disease |
human |
DR4 |
RF |
GCA haplotype |
25207117 |
93 |
Alzheimer's Disease |
human |
DR4 |
RF |
GCC haplotype |
25207117 |
93 |
Alzheimer's Disease |
human |
DR4 |
PF |
ACA haplotype |
25207117 |
93 |
Alzheimer's Disease |
human |
DR4 |
PF |
GGC haplotype |
25207117 |
93 |
Alzheimer's Disease |
human |
DR4 |
PF |
GGA haplotype |
25207117 |
94 |
Tourette Syndrome |
human |
DRD2 |
RF |
|
20431429 |
95 |
progressive supranuclear palsy |
human |
DUSP10 |
PF |
Meta-analysis |
29986742 |
96 |
Parkinson's Disease |
human |
DYRK1A |
RF |
especially for males |
27546826 |
97 |
progressive supranuclear palsy |
human |
EIF2AK3 |
PF |
Meta-analysis |
29986742 |
98 |
Parkinson's Disease |
human |
EMTP variation |
RF |
|
30675927 |
99 |
Alzheimer's Disease |
human |
ENST00000414107 |
RF |
|
29027019 |
100 |
Frontotemporal Lobar Degeneration |
human |
ENTHD2 |
RF |
Minor allele:G |
26154020 |
101 |
Amyotrophic lateral sclerosis |
human |
ERp57/PDIA3 |
RF |
|
25913742 |
102 |
Alzheimer's disease |
human |
ESR1 |
RF |
|
20674091 |
102 |
Alzheimer's disease |
human |
ESR1 |
PF |
|
20674091 |
102 |
Alzheimer's disease |
human |
ESR1 |
RF |
|
20674091 |
103 |
Alzheimer's disease |
human |
ESR1 and ESR2 |
RF |
the genetic profile created with the combination of the less represented alleles of these SNPs (expressed as XPAA) |
24052609 |
104 |
Alzheimer's disease |
human |
ESR2 |
RF |
predominantly Caucasian AIMS-defined ancestry |
24326520 |
104 |
Alzheimer's disease |
human |
ESR2 |
RF |
predominantly Caucasian AIMS-defined ancestry |
24326520 |
104 |
Alzheimer's disease |
human |
ESR2 |
RF |
predominantly Caucasian AIMS-defined ancestry |
24326520 |
104 |
Alzheimer's disease |
human |
ESR2 |
RF |
predominantly Caucasian AIMS-defined ancestry |
24326520 |
105 |
Alzheimer's disease |
human |
ESR3 |
PF |
|
24326520 |
106 |
Alzheimer's disease |
human |
EXOC3L2 |
RF |
|
28423615 |
106 |
Alzheimer's disease |
human |
EXOC3L2 |
PF |
|
28423615 |
107 |
Parkinson's Disease |
human |
Famliy history of familial Parkinson's disease |
RF |
|
21059511 |
107 |
Parkinson's Disease |
human |
Famliy history of familial Parkinson's disease |
RF |
|
8771062 |
108 |
Parkinson's Disease |
human |
FGF20 |
RF |
|
26070653 |
108 |
Parkinson's Disease |
human |
FGF20 |
RF |
|
26070653 |
108 |
Parkinson's Disease |
human |
FGF20 |
RF |
|
24942208 |
108 |
Parkinson's Disease |
human |
FGF20 |
RF |
|
22342445 |
108 |
Parkinson's Disease |
human |
FGF20 |
RF |
|
15122513 |
108 |
Parkinson's Disease |
human |
FGF20 |
RF |
|
15122513 |
109 |
Alzheimer's disease |
human |
FRMD4A |
RF |
|
22430674 |
110 |
Amyotrophic lateral sclerosis |
human |
FUS |
RF |
|
28054830 |
111 |
Alzheimer's Disease |
human |
G-308A( TNF-alpha gene) |
RF |
A-allele |
18992723 |
112 |
Alzheimer's Disease |
human |
GAB2 |
RF |
ApoE epsilon4 non-carriers |
19276544 |
112 |
Alzheimer's disease |
human |
GAB2 |
PF |
|
26770425 |
112 |
Alzheimer's disease |
human |
GAB2 |
PF |
|
26770425 |
112 |
Alzheimer's disease |
human |
GAB2 |
RF |
|
21285854 |
112 |
Alzheimer's disease |
human |
GAB2 |
RF |
|
21285854 |
112 |
Alzheimer's disease |
human |
GAB2 |
RF |
|
21285854 |
112 |
Alzheimer's disease |
human |
GAB2 |
RF |
|
21285854 |
112 |
Alzheimer's disease |
human |
GAB2 |
RF |
|
21108942 |
112 |
Alzheimer's disease |
human |
GAB2 |
RF |
a minor genetic determinant of AD |
18272374 |
113 |
Alzheimer's Disease |
human |
GALR3 |
RF |
|
29177109 |
114 |
Amyotrophic lateral sclerosis |
human |
GARS |
RF |
|
30661401 |
115 |
Lewy body dementia |
human |
GBA |
RF |
|
29263008 |
115 |
Lewy body dementia |
human |
GBA |
RF |
|
27723861 |
115 |
Lewy body dementia |
human |
GBA |
RF |
|
27312774 |
115 |
Lewy body dementia |
human |
GBA |
RF |
|
27027900 |
115 |
Parkinson's Disease |
human |
GBA |
RF |
Patients with early-onset were more likely to carry GBA mutations than those with late-onset |
26868973 |
115 |
Parkinson's Disease |
human |
GBA |
RF |
strong risk factors in FPD, especially for autosomal dominant PD |
24126159 |
115 |
Parkinson's Disease |
human |
GBA |
RF |
|
24997549 |
115 |
Parkinson's Disease |
human |
GBA |
RF |
|
22812582 |
115 |
Parkinson's Disease |
human |
GBA |
RF |
|
22387070 |
115 |
Parkinson's Disease |
human |
GBA |
RF |
|
20131388 |
115 |
Parkinson's Disease |
human |
GBA |
RF |
|
17702778 |
115 |
Parkinson's Disease |
human |
GBA |
RF |
|
26000814 |
115 |
Parkinson's Disease |
human |
GBA |
RF |
|
30765263 |
115 |
Parkinson's Disease |
human |
GBA |
RF |
|
30765263 |
115 |
Parkinson's Disease |
human |
GBA |
RF |
|
30765263 |
115 |
Lewy body dementia |
human |
GBA |
RF |
|
18332251 |
116 |
Lewy body dementia |
human |
GBA1 |
RF |
|
23588557 |
116 |
Parkinson's Disease |
human |
GBA1 |
RF |
non-N370S mutations associated with Gaucher disease |
22968580 |
117 |
Alzheimer's Disease |
human |
GCH1 |
RF |
|
29432188 |
117 |
Parkinson's Disease |
human |
GCH1 |
RF |
|
27871051 |
118 |
Parkinson's Disease |
human |
GLIS1 |
RF |
|
22759478 |
119 |
Alzheimer's disease |
human |
GOLPH2 |
RF |
|
22167654 |
119 |
Alzheimer's disease |
human |
GOLPH2 |
RF |
|
22167654 |
120 |
Parkinson's Disease |
human |
GRIN2A |
RF |
taking creatine who also have high levels of caffeine intake |
28320167 |
121 |
Parkinson's Disease |
human |
GRIN2A T allele |
RF |
taking creatine who also have high levels of caffeine intake |
28320167 |
122 |
Alzheimer's disease |
human |
GRN |
RF |
|
26820675 |
122 |
Frontotemporal Lobar Degeneration |
human |
GRN |
RF |
|
24503614 |
122 |
Frontotemporal Lobar Degeneration |
human |
GRN |
RF |
Genotype:TT |
18723524 |
122 |
Frontotemporal Lobar Degeneration |
human |
GRN |
RF |
more common (T) allele |
20154673 |
123 |
Alzheimer's disease |
human |
GSTM1 |
RF |
|
22381228 |
123 |
Alzheimer's Disease |
human |
GSTM1 |
RF |
|
29072550 |
124 |
Alzheimer's disease |
human |
GSTO1 |
RF |
|
22100662 |
125 |
Alzheimer's disease |
human |
GSTP1 |
RF |
mainly in the presence of the apoE 4 allele |
18298341 |
126 |
Alzheimer's Disease |
human |
GSTT1 |
RF |
|
22813660 |
126 |
Alzheimer's Disease |
human |
GSTT1 |
RF |
|
29072550 |
127 |
Alzheimer's disease |
human |
hemochromatosis (HFE) |
RF |
|
27081498 |
128 |
Parkinson's Disease |
human |
HFE |
PF |
Australian PD patients |
12098643 |
128 |
Parkinson's Disease |
human |
HFE |
PF |
Australian PD patients |
12098643 |
128 |
Parkinson's Disease |
human |
HFE |
RF |
|
16824219 |
128 |
Parkinson's Disease |
human |
HFE |
RF |
|
16824219 |
128 |
Amyotrophic Lateral Sclerosis |
human |
HFE |
RF |
Genotype:GC |
20642794 |
128 |
Amyotrophic Lateral Sclerosis |
human |
HFE |
RF |
Genotype:GC/GG |
20642794 |
128 |
Amyotrophic Lateral Sclerosis |
human |
HFE |
RF |
Genotype:G allele frequency |
20642794 |
129 |
Alzheimer’s Disease |
human |
HIF3A |
RF |
eQTL(expression quantitative trait loci) analysis for the five SNPs closely related to AD |
30319691 |
130 |
Alzheimer's Disease |
human |
HLA-A24 |
RF |
|
18936542 |
131 |
Frontotemporal Lobar Degeneration |
human |
HLA-DQA2 |
RF |
Discovery stage |
30739198 |
131 |
Frontotemporal Lobar Degeneration |
human |
HLA-DQA2 |
RF |
Replication stage |
30739198 |
132 |
Parkinson's Disease |
human |
HLA-DRA |
RF |
|
25319953 |
133 |
Amyotrophic Lateral Sclerosis |
human |
HLA-DRA/HLA-DRB5 |
RF |
the AA genotype at rs9268856 |
28131168 |
134 |
Alzheimer's Disease |
human |
HLA-DRB1 |
RF |
under a recessive model in the total sample |
29190991 |
134 |
Alzheimer's Disease |
human |
HLA-DRB1 |
RF |
non-APOE ε4 carriers with rs9271192 genotype CC;additive model |
29190991 |
134 |
Alzheimer's Disease |
human |
HLA-DRB1 |
RF |
non-APOE ε4 carriers with rs9271192 genotype CC;recessive model |
29190991 |
135 |
Frontotemporal Lobar Degeneration |
human |
HMCN1 |
PF |
Discovery stage |
30739198 |
136 |
Frontotemporal Lobar Degeneration |
human |
hnRNP-A1 |
RF |
C/C genotype |
21548758 |
136 |
Frontotemporal Lobar Degeneration |
human |
hnRNP-A1 |
RF |
C/C genotype |
21548758 |
137 |
Alzheimer’s Disease |
human |
HSP70/HSPA1A |
PF |
Genotype: A/C; AD without depression |
29703883 |
138 |
Alzheimer's Disease |
human |
IL-1 beta promoter polymorphism |
RF |
APOE4 presence:No stratified |
18717723 |
138 |
Alzheimer's Disease |
human |
IL-1 beta promoter polymorphism |
RF |
APOE4 presence:APOE4 yes |
18717723 |
138 |
Alzheimer's Disease |
human |
IL-1 beta promoter polymorphism |
RF |
APOE4 presence:APOE4 no |
18717723 |
139 |
Alzheimer's disease |
human |
IL-1 genes cluster |
PF |
|
22498095 |
139 |
Alzheimer's disease |
human |
IL-1 genes cluster |
RF |
|
22498095 |
140 |
Parkinson's Disease |
human |
IL-10 |
RF |
|
21241672 |
140 |
Parkinson's Disease |
human |
IL-10 |
RF |
|
22387064 |
141 |
Alzheimer's Disease |
human |
IL-12A |
PF |
TT genotype |
25037175 |
142 |
Alzheimer's Disease |
human |
IL-12B |
PF |
GG genotype |
25037175 |
142 |
Alzheimer's Disease |
human |
IL-12B |
PF |
GG/GT genotype |
25037175 |
143 |
Parkinson's Disease |
human |
IL-18 |
RF |
|
21241672 |
144 |
Alzheimer's disease |
human |
IL-1B |
RF |
|
26768592 |
144 |
Alzheimer's disease |
human |
IL-1B |
RF |
|
26768592 |
145 |
Alzheimer's disease |
human |
IL-1α |
RF |
|
27014584 |
146 |
Multiple System Atrophy |
human |
IL-1β |
RF |
|
29251119 |
147 |
Frontotemporal Lobar Degeneration |
human |
IMMP2L |
RF |
Discovery stage |
30739198 |
148 |
Alzheimer's disease |
human |
insulin degrading enzyme gene (IDE) |
RF |
|
20880607 |
148 |
Alzheimer's disease |
human |
insulin degrading enzyme gene (IDE) |
RF |
CC genotype was significantly associated with earlier age at onset |
20880607 |
149 |
Amyotrophic Lateral Sclerosis |
human |
Intergenic |
RF |
The estimations using the proposed method (unadjusted estimates) |
19740415 |
149 |
Amyotrophic Lateral Sclerosis |
human |
Intergenic |
RF |
The estimations using the proposed method (adjusted estimates) |
19740415 |
150 |
Amyotrophic Lateral Sclerosis |
human |
Intergenic and SHROOM3 |
RF |
The estimations using the proposed method (unadjusted estimates) |
19740415 |
151 |
Amyotrophic Lateral Sclerosis |
human |
Intergenic and SHROOM4 |
RF |
The estimations using the proposed method (adjusted estimates) |
19740415 |
152 |
Frontotemporal Lobar Degeneration |
human |
IRF2 |
PF |
Discovery stage |
30739198 |
153 |
Alzheimer’s Disease |
human |
ITGA4 |
RF |
Codominant; Genotype/Allele: AG; Univariate analysis |
29769839 |
153 |
Alzheimer’s Disease |
human |
ITGA4 |
RF |
Dominant; Genotype/Allele: AG+GG; Univariate analysis |
29769839 |
153 |
Alzheimer’s Disease |
human |
ITGA4 |
RF |
Dominant; Genotype/Allele: AG+GG; Multivariate analysis |
29769839 |
153 |
Alzheimer’s Disease |
human |
ITGA4 |
RF |
Overdominant; Genotype/Allele: AG; Univariate analysis |
29769839 |
153 |
Alzheimer’s Disease |
human |
ITGA4 |
RF |
Overdominant; Genotype/Allele: AG; Multivariate analysis |
29769839 |
154 |
Amyotrophic lateral sclerosis |
human |
ITPR2 |
RF |
|
25023141 |
155 |
Alzheimer's Disease |
human |
KCNJ15 |
RF |
|
29432188 |
156 |
Alzheimer's disease |
human |
KIBRA |
PF |
|
24190487 |
157 |
Amyotrophic lateral sclerosis |
human |
KIF5A |
RF |
|
27455347 |
158 |
Alzheimer’s Disease |
human |
LCORL |
RF |
|
29860282 |
159 |
Alzheimer's disease |
human |
LDLR |
RF |
|
18065781 |
160 |
Alzheimer's disease |
human |
LHCGR |
PF |
carrying an APOE epsilon4 allele |
18439297 |
161 |
Alzheimer's Disease |
human |
LOC100505811 |
RF |
|
29027019 |
161 |
Alzheimer's Disease |
human |
LOC100505811 |
RF |
|
29027019 |
161 |
Alzheimer's Disease |
human |
LOC100505811 |
RF |
|
29027019 |
161 |
Alzheimer's Disease |
human |
LOC100505811 |
RF |
|
29027019 |
162 |
Frontotemporal Lobar Degeneration |
human |
LOC101927354 |
RF |
Discovery stage |
30739198 |
163 |
Amyotrophic Lateral Sclerosis |
human |
LOC107987057 |
RF |
|
20801718 |
163 |
Amyotrophic Lateral Sclerosis |
human |
LOC107987057 |
RF |
|
20801717 |
163 |
Amyotrophic Lateral Sclerosis |
human |
LOC107987057 |
RF |
In the joint analysis |
20801717 |
164 |
Amyotrophic Lateral Sclerosis |
human |
LOC107987057,LOC112268043 |
RF |
|
20801717 |
164 |
Amyotrophic Lateral Sclerosis |
human |
LOC107987057,LOC112268043 |
RF |
In the joint analysis |
20801717 |
165 |
Amyotrophic Lateral Sclerosis |
human |
LOC112268043,LOC107987057 |
RF |
|
20801718 |
166 |
Frontotemporal Lobar Degeneration |
human |
LOC730100 |
RF |
Minor allele:C |
26154020 |
166 |
Frontotemporal Lobar Degeneration |
human |
LOC730100 |
RF |
Minor allele:G |
26154020 |
166 |
Frontotemporal Lobar Degeneration |
human |
LOC730100 |
RF |
Minor allele:C |
26154020 |
166 |
Frontotemporal Lobar Degeneration |
human |
LOC730100 |
RF |
Minor allele:T |
26154020 |
166 |
Frontotemporal Lobar Degeneration |
human |
LOC730100 |
RF |
Minor allele:C |
26154020 |
166 |
Frontotemporal Lobar Degeneration |
human |
LOC730100 |
RF |
Minor allele:A |
26154020 |
166 |
Frontotemporal Lobar Degeneration |
human |
LOC730100 |
RF |
Minor allele:T |
26154020 |
167 |
Alzheimer's disease |
human |
LRP2 |
RF |
|
20971101 |
168 |
Multiple System Atrophy |
human |
LRRK2 |
RF |
|
29480226 |
168 |
Parkinson's Disease |
human |
LRRK2 |
RF |
especially in early-onset patients |
26234753 |
168 |
Parkinson's Disease |
human |
LRRK2 |
RF |
|
23624603 |
168 |
Parkinson's Disease |
human |
LRRK2 |
PF |
|
23115130 |
168 |
Parkinson's Disease |
human |
LRRK2 |
RF |
|
23115130 |
168 |
Parkinson's Disease |
human |
LRRK2 |
RF |
|
20629711 |
168 |
Parkinson's Disease |
human |
LRRK2 |
RF |
|
21167764 |
168 |
Parkinson's Disease |
human |
LRRK2 |
RF |
|
20673920 |
168 |
Parkinson's Disease |
human |
LRRK2 |
RF |
|
19672984 |
168 |
Parkinson's Disease |
human |
LRRK2 |
RF |
|
18201193 |
168 |
Parkinson's Disease |
human |
LRRK2 |
RF |
|
18716801 |
168 |
Parkinson's Disease |
human |
LRRK2 |
RF |
|
17960808 |
168 |
Parkinson's Disease |
human |
LRRK2 |
RF |
|
17314670 |
168 |
Parkinson's Disease |
human |
LRRK2 |
RF |
|
17019612 |
168 |
Parkinson's Disease |
human |
LRRK2 |
RF |
reater frequency of the G2019S mutation in Jewish than in non-Jewish cases with Parkinson disease |
17050822 |
168 |
Parkinson's Disease |
human |
LRRK2 |
RF |
|
16633828 |
168 |
Parkinson's Disease |
human |
LRRK2 |
RF |
|
19854095 |
168 |
Parkinson's Disease |
human |
LRRK2 |
RF |
|
19699188 |
169 |
Amyotrophic Lateral Sclerosis |
human |
M1(C/C) |
RF |
|
17503480 |
170 |
Amyotrophic Lateral Sclerosis |
human |
M5(A/A) |
PF |
|
17503480 |
171 |
Amyotrophic Lateral Sclerosis |
human |
M6(T/T) |
RF |
|
17503480 |
172 |
Parkinson's Disease |
human |
MAO |
RF |
|
7913737 |
172 |
Parkinson's Disease |
human |
MAO |
RF |
|
7913737 |
173 |
Alzheimer's Disease |
human |
MAPT |
RF |
|
22556362 |
173 |
Frontotemporal Dementia |
human |
MAPT |
RF |
a rare microtubule-associated protein tau (MAPT) sequence variant, c.454G>A (p.A152T) |
23518664 |
173 |
Frontotemporal Dementia |
human |
MAPT |
RF |
|
22556362 |
173 |
Frontotemporal Lobar Degeneration |
human |
MAPT |
RF |
H2H2 vs. H1H2 + H1H1 |
16410051 |
173 |
Frontotemporal Lobar Degeneration |
human |
MAPT |
RF |
|
22556362 |
173 |
progressive supranuclear palsy |
human |
MAPT |
RF |
Meta-analysis |
29986742 |
173 |
progressive supranuclear palsy |
human |
MAPT |
PF |
Meta-analysis |
29986742 |
173 |
Parkinson's Disease |
human |
MAPT |
RF |
|
19912324 |
173 |
Parkinson's Disease |
human |
MAPT |
RF |
|
15627775 |
173 |
Multiple System Atrophy |
human |
MAPT |
RF |
H1 haplotype |
21321341 |
174 |
progressive supranuclear palsy |
human |
MAPT H1c haplotype |
RF |
|
28100725 |
175 |
Frontotemporal Dementia |
human |
MAPT H2 haplotype |
RF |
APOE e4 negatives |
16410051 |
175 |
Frontotemporal Dementia |
human |
MAPT H2 haplotype |
RF |
|
16410051 |
176 |
Frontotemporal Dementia |
human |
MAPT H2H3 genetype |
RF |
APOE e4 negatives |
16410051 |
177 |
Alzheimer's disease |
human |
MC1R |
RF |
|
28059796 |
177 |
Parkinson's Disease |
human |
MC1R |
RF |
|
19194882 |
177 |
Parkinson's Disease |
human |
MC1R |
RF |
|
19194882 |
178 |
Frontotemporal Lobar Degeneration |
human |
MFSD8 |
RF |
|
30382371 |
179 |
Alzheimer's Disease |
human |
microtubule-associated protein tau (MAPT) gene |
PF |
individuals with a GG genotype of rs242557G/A |
29098924 |
180 |
Alzheimer's Disease |
human |
MIEF1 |
RF |
|
29177109 |
181 |
Frontotemporal Lobar Degeneration |
human |
MIR548AP |
RF |
Discovery stage |
30739198 |
182 |
Alzheimer’s Disease |
human |
MLKL |
RF |
MLKL loss-of-function mutation |
29656768 |
183 |
Amyotrophic lateral sclerosis |
human |
MOB3B |
RF |
|
25023141 |
183 |
Amyotrophic Lateral Sclerosis |
human |
MOB3B |
RF |
|
20801718 |
184 |
progressive supranuclear palsy |
human |
MOBP |
PF |
Meta-analysis |
29986742 |
185 |
Alzheimer's Disease |
human |
mosaic aneuploidy in the brain |
RF |
|
24602248 |
186 |
Alzheimer's disease |
human |
MS4A4E |
RF |
|
26770425 |
187 |
Alzheimer’s Disease |
human |
MS4A6A |
RF |
Calculated by fixed effect model |
29504051 |
187 |
Alzheimer’s Disease |
human |
MS4A6A |
RF |
Calculated by fixed effect model |
29504051 |
187 |
Alzheimer’s Disease |
human |
MS4A6A |
RF |
Calculated by fixed effect model |
29504051 |
187 |
Alzheimer's disease |
human |
MS4A6A |
PF |
|
26770425 |
187 |
Alzheimer's disease |
human |
MS4A6A |
RF |
|
22382309 |
188 |
Alzheimer's disease |
human |
MTHFD1L |
RF |
the results were influenced by APOE status |
21741665 |
189 |
Alzheimer's Disease |
human |
MTHFR |
RF |
Genotype CT;P value adjusted for age, gender, educational attainment, and APOE-e4 status |
25359311 |
189 |
Alzheimer's Disease |
human |
MTHFR |
RF |
AA genotype |
23659764 |
189 |
Alzheimer's disease |
human |
MTHFR |
RF |
in APOE?4 or in non-APOE?4 carriers |
28211809 |
189 |
Alzheimer's disease |
human |
MTHFR |
RF |
increased the odds of developing AD by 2.5 |
22015309 |
189 |
Alzheimer's disease |
human |
MTHFR |
RF |
without APOE epsilon4 alleles |
20600372 |
190 |
Amyotrophic Lateral Sclerosis |
human |
MTHFR(T677T) |
RF |
|
22385294 |
191 |
Amyotrophic Lateral Sclerosis |
human |
MTHFR(T677T/A1298A) |
RF |
|
22385294 |
192 |
Alzheimer’s Disease |
human |
MTNR1A |
RF |
|
29982836 |
193 |
Motor Neuron Disease |
human |
NEFH |
RF |
Genotype: SS |
14722583 |
194 |
Amyotrophic lateral sclerosis |
human |
NEK1 |
RF |
|
27455347 |
194 |
Amyotrophic lateral sclerosis |
human |
NEK1 |
RF |
|
27455347 |
194 |
Amyotrophic lateral sclerosis |
human |
NEK1 |
RF |
|
27455347 |
194 |
Amyotrophic lateral sclerosis |
human |
NEK1 |
RF |
|
27455347 |
195 |
Alzheimer's disease |
human |
NEP gene (MME) |
RF |
|
22493749 |
196 |
Alzheimer's disease |
human |
neprilysin (NEP) |
RF |
|
20376800 |
197 |
Alzheimer's disease |
human |
NINJ2 |
PF |
|
21674003 |
197 |
Alzheimer's disease |
human |
NINJ2 |
PF |
|
21674003 |
197 |
Alzheimer's disease |
human |
NINJ2 |
PF |
|
21674003 |
198 |
Amyotrophic Lateral Sclerosis |
human |
NIPA1 |
RF |
|
22378146 |
199 |
Parkinson's Disease |
human |
NOD2 |
RF |
associated with late-onset PD |
23651603 |
200 |
Frontotemporal Lobar Degeneration |
human |
NOS1 |
RF |
T allele |
18042235 |
201 |
Alzheimer's disease |
human |
NOS3 |
RF |
|
20505439 |
201 |
Alzheimer's disease |
human |
NOS3 |
RF |
in the APOE epsilon 4 noncarriers |
18183499 |
201 |
Alzheimer's disease |
human |
NOS3 |
RF |
in the APOE epsilon 4 noncarriers |
18183499 |
201 |
Frontotemporal Lobar Degeneration |
human |
NOS3 |
RF |
|
19087148 |
202 |
Alzheimer's disease |
human |
NQO1 |
PF |
significant difference in the APOE epsilon4 non-carriers |
18253865 |
202 |
Alzheimer's disease |
human |
NQO1 |
RF |
|
18253865 |
203 |
Alzheimer’s Disease |
human |
NT-3 |
RF |
homozygotes or heterozygotes for the mutated type (Glu[-63]) |
9502217 |
204 |
Alzheimer's disease |
human |
NTF-3 |
PF |
in patients lacking the ApoE-?4 allele |
26814132 |
204 |
Alzheimer's disease |
human |
NTF-3 |
RF |
|
24174922 |
204 |
Alzheimer's disease |
human |
NTF-3 |
RF |
|
24174922 |
204 |
Alzheimer's disease |
human |
NTF-3 |
PF |
|
24174922 |
205 |
Frontotemporal Lobar Degeneration |
human |
OLFM1 |
RF |
Discovery stage |
30739198 |
206 |
Parkinson's Disease |
human |
Omi/HTRA2 |
RF |
|
21338583 |
207 |
Alzheimer's disease |
human |
OX2R |
RF |
A allele may be a susceptible factor for AD |
30955315 |
207 |
Alzheimer's disease |
human |
OX2R |
RF |
A allele may be a susceptible factor for AD |
30955315 |
208 |
Alzheimer's disease |
human |
oxidized LDL receptor 1(OLR1) |
RF |
|
21709374 |
208 |
Alzheimer's disease |
human |
oxidized LDL receptor 1(OLR1) |
RF |
|
21709374 |
209 |
Parkinson's Disease |
human |
P2X7 |
RF |
|
23648388 |
210 |
Amyotrophic lateral sclerosis |
human |
P4HB/PDIA1 |
RF |
|
25913742 |
211 |
Parkinson's Disease |
human |
PARK16 |
PF |
|
27174169 |
211 |
Parkinson's Disease |
human |
PARK16 |
RF |
|
27174169 |
211 |
Parkinson's Disease |
human |
PARK16 |
RF |
|
21419001 |
212 |
Parkinson's Disease |
human |
PARK2 |
RF |
|
12056932 |
212 |
Parkinson's Disease |
human |
PARK2 |
RF |
|
24729340 |
212 |
Parkinson's Disease |
human |
PARK2 |
RF |
|
24729340 |
213 |
Parkinson's Disease |
human |
PARKIN |
RF |
|
19636047 |
213 |
Parkinson's Disease |
human |
PARKIN |
RF |
|
10511432 |
213 |
Parkinson's Disease |
human |
PARKIN |
RF |
|
10511432 |
214 |
Tourette Syndrome |
human |
PARP1 |
RF |
CT versus TT |
23576132 |
215 |
Tourette Syndrome |
human |
PARP2 |
PF |
|
23576132 |
216 |
Parkinson's Disease |
human |
PD in first-degree relatives |
RF |
|
11060508 |
217 |
Amyotrophic lateral sclerosis |
human |
PEAK1 |
RF |
|
27455347 |
218 |
Alzheimer's disease |
human |
PEMT |
RF |
|
21881829 |
219 |
Amyotrophic lateral sclerosis |
human |
PFN1 |
RF |
|
24309268 |
220 |
Alzheimer’s Disease |
human |
PICALM |
RF |
PENN cohort |
30128317 |
220 |
Alzheimer’s Disease |
human |
PICALM |
RF |
PENN cohort |
30128317 |
220 |
Alzheimer's Disease |
human |
PICALM |
RF |
Genotype GG;P value adjusted for age, gender, educational attainment, and APOE-e4 status |
25359311 |
221 |
Parkinson's Disease |
human |
PINK1 |
RF |
|
16969854 |
221 |
Parkinson's Disease |
human |
PINK1 |
RF |
|
27807026 |
222 |
Alzheimer's disease |
human |
PLA2G3 |
RF |
|
20930276 |
223 |
Parkinson's Disease |
human |
PLA2G6 |
RF |
|
22213678 |
224 |
Alzheimer's Disease |
human |
PLEKHG5 |
RF |
|
29177109 |
225 |
Alzheimer’s Disease |
human |
PM20D1 |
PF |
in a particular genetic background |
29736028 |
226 |
Hereditary Motor and Sensory Neuropathy |
human |
PMP22 |
RF |
17p11.2 duplication |
9183252 |
226 |
Hereditary Motor and Sensory Neuropathy |
human |
PMP22 |
RF |
17p11.2 duplication |
8179301 |
227 |
Amyotrophic Lateral Sclerosis |
human |
PON1 Q192R(major allele is Q) |
RF |
Recessive (RR vs other) |
16822965 |
227 |
Amyotrophic Lateral Sclerosis |
human |
PON1 Q192R(major allele is Q) |
RF |
Additive |
16822965 |
227 |
Amyotrophic Lateral Sclerosis |
human |
PON1 Q192R(major allele is Q) |
RF |
Dominant (RR and QR vs QQ) |
16822965 |
228 |
Amyotrophic Lateral Sclerosis |
human |
PON2 C311S (major allele is S) |
RF |
Additive |
16822965 |
228 |
Amyotrophic Lateral Sclerosis |
human |
PON2 C311S (major allele is S) |
RF |
Dominant (CC and CS vs SS) |
16822965 |
229 |
Parkinson's Disease |
human |
positive family history of PD |
RF |
|
9778597 |
230 |
Alzheimer's Disease |
human |
presence of one or more APOE ε4 alleles |
RF |
in females |
26343475 |
231 |
Creutzfeldt-Jakob disease |
human |
PRNP |
RF |
APOE?ε4 carriers |
21799773 |
231 |
Creutzfeldt-Jakob disease |
human |
PRNP |
RF |
BACE1?C-allele carriers |
22952813 |
231 |
Creutzfeldt-Jakob disease |
human |
PRNP |
RF |
BACE1?C-allele carriers |
22952813 |
231 |
Creutzfeldt-Jakob disease |
human |
PRNP |
RF |
Codon 129: Val homozygosity |
8707291 |
231 |
Creutzfeldt-Jakob disease |
human |
PRNP |
RF |
|
19081515 |
231 |
Creutzfeldt-Jakob disease |
human |
PRNP |
RF |
|
19081515 |
231 |
Creutzfeldt-Jakob disease |
human |
PRNP |
RF |
|
22210626 |
232 |
Alzheimer’s Disease |
human |
PS-1 |
RF |
|
8930979 |
232 |
Alzheimer’s Disease |
human |
PS-1 |
RF |
|
9298817 |
232 |
Alzheimer’s Disease |
human |
PS-1 |
RF |
APOE ε4 |
10581373 |
233 |
Alzheimer’s Disease |
human |
PS-2 |
RF |
APOE ε4 |
10581373 |
234 |
Alzheimer's Disease |
human |
PSEN1 |
RF |
|
25104557 |
234 |
Lewy body dementia |
human |
PSEN1 |
RF |
|
27312774 |
235 |
Alzheimer's Disease |
human |
PSEN2 |
RF |
|
25104557 |
235 |
Alzheimer's Disease |
human |
PSEN2 |
RF |
|
24927704 |
236 |
Alzheimer’s Disease |
human |
PTK2B |
PF |
National Alzheimer’s Coordinating Center (NACC) cohort |
30128317 |
237 |
Alzheimer’s Disease |
human |
PVRL2 |
RF |
eQTL(expression quantitative trait loci) analysis for the five SNPs closely related to AD |
30319691 |
237 |
Alzheimer’s Disease |
human |
PVRL2 |
RF |
eQTL(expression quantitative trait loci) analysis for the five SNPs closely related to AD |
30319691 |
237 |
Alzheimer’s Disease |
human |
PVRL2 |
RF |
eQTL(expression quantitative trait loci) analysis for the five SNPs closely related to AD |
30319691 |
237 |
Alzheimer's Disease |
human |
PVRL2 |
RF |
using logistic regression、Dataset:CHS( Cardiovascular Health Study) |
29107063 |
237 |
Alzheimer's Disease |
human |
PVRL2 |
RF |
using logistic regression、Dataset:HRS(Health and Retirement Study) |
29107063 |
237 |
Alzheimer's Disease |
human |
PVRL2 |
RF |
using logistic regression、Dataset:LOADFS(Late Onset Alzheimer's Disease Family Study ) |
29107063 |
237 |
Alzheimer's Disease |
human |
PVRL2 |
RF |
using Cox regression、Dataset:CHS(Cardiovascular Health Study) |
29107063 |
238 |
Alzheimer's Disease |
human |
RAB10 |
PF |
|
29183403 |
239 |
Alzheimer's Disease |
human |
RCAN1 |
RF |
|
26497675 |
239 |
Alzheimer's Disease |
human |
RCAN1 |
RF |
|
26497675 |
240 |
Alzheimer's Disease |
human |
reduced DYRK1A expression |
RF |
|
25116835 |
241 |
Alzheimer's disease |
human |
reduced folate carrier gene (RFC1) |
RF |
especially for female individuals |
18258338 |
241 |
Alzheimer's disease |
human |
reduced folate carrier gene (RFC1) |
RF |
especially for female individuals |
18258338 |
242 |
Frontotemporal Lobar Degeneration |
human |
RERG |
PF |
Discovery stage |
30739198 |
243 |
Parkinson's Disease |
human |
Saitohin |
PF |
|
25168738 |
243 |
Parkinson's Disease |
human |
Saitohin |
RF |
|
25168738 |
244 |
Multiple System Atrophy |
human |
SCA1 |
RF |
|
29715545 |
245 |
Multiple System Atrophy |
human |
SCA3 |
RF |
|
17133518 |
246 |
Parkinson's Disease |
human |
SEMA5A |
PF |
|
18950607 |
246 |
Parkinson's Disease |
human |
SEMA5A |
PF |
|
18950607 |
246 |
Parkinson's Disease |
human |
SEMA5A |
RF |
|
18950607 |
246 |
Parkinson's Disease |
human |
SEMA5A |
RF |
|
18950607 |
246 |
Parkinson's Disease |
human |
SEMA5A |
PF |
|
24706317 |
247 |
Alzheimer's disease |
human |
SERPINE1 |
RF |
women were at an increased risk over their male genotype counterparts |
28466654 |
247 |
Alzheimer's disease |
human |
SERPINE1 |
RF |
women were at an increased risk over their male genotype counterparts |
28466654 |
248 |
Alzheimer's disease |
human |
SHARPIN |
RF |
|
31216982 |
249 |
Alzheimer's disease |
human |
SIRT2 |
RF |
APOEε4 noncarriers |
24139700 |
249 |
Alzheimer's disease |
human |
SIRT2 |
RF |
|
24139700 |
250 |
Parkinson's Disease |
human |
SLC6A3 |
RF |
|
24211691 |
250 |
Parkinson's Disease |
human |
SLC6A3 |
RF |
|
24211691 |
250 |
Parkinson's Disease |
human |
SLC6A3 |
RF |
|
24211691 |
250 |
Parkinson's Disease |
human |
SLC6A3 |
RF |
|
24211691 |
250 |
Parkinson's Disease |
human |
SLC6A3 |
PF |
|
24211691 |
251 |
Alzheimer’s Disease |
human |
SLC6A4/5-HTT |
PF |
S allele; AD with depression |
29703883 |
252 |
progressive supranuclear palsy |
human |
SLCO1A2 |
PF |
Meta-analysis |
29986742 |
253 |
Amyotrophic Lateral Sclerosis |
human |
SMN1 |
RF |
one copy |
16931506 |
253 |
Amyotrophic Lateral Sclerosis |
human |
SMN1 |
RF |
three copies |
16931506 |
253 |
Amyotrophic Lateral Sclerosis |
human |
SMN1 |
RF |
one or three copies of SMN1 gene were pooled |
16931506 |
253 |
Amyotrophic Lateral Sclerosis |
human |
SMN1 |
RF |
abnormal SMN1 copy numbers |
19922137 |
254 |
Amyotrophic Lateral Sclerosis |
human |
SMN2 |
RF |
|
22187232 |
255 |
Parkinson's Disease |
human |
SMPD1 |
RF |
|
26169695 |
255 |
Parkinson's Disease |
human |
SMPD1 |
RF |
|
23535491 |
256 |
Lewy body dementia |
human |
SNCA |
PF |
|
29263008 |
256 |
Parkinson's Disease |
human |
SNCA |
RF |
|
27699750 |
256 |
Parkinson's Disease |
human |
SNCA |
RF |
|
22349157 |
256 |
Parkinson's Disease |
human |
SNCA |
RF |
|
18404644 |
256 |
Parkinson's Disease |
human |
SNCA |
RF |
|
18404644 |
257 |
Amyotrophic Lateral Sclerosis |
human |
SOD1 |
RF |
Expression of N19S-SOD1, an SOD1 Mutant |
16035108 |
257 |
Amyotrophic lateral sclerosis |
human |
SOD1 |
RF |
|
24591609 |
258 |
Alzheimer's Disease |
human |
SOD1 gene |
PF |
After Bonferroni correction;recessive model |
25440013 |
258 |
Alzheimer's Disease |
human |
SOD1 gene |
PF |
After Bonferroni correction;additive model |
25440013 |
258 |
Alzheimer's Disease |
human |
SOD1 gene |
PF |
Logistic regression analysis controlled for age, genderand APOE carrier status;recessive model |
25440013 |
258 |
Alzheimer's Disease |
human |
SOD1 gene |
PF |
Logistic regression analysis controlled for age, genderand APOE carrier status;additive model |
25440013 |
259 |
Alzheimer's Disease |
human |
SORL1 |
RF |
with the A allele |
25450149 |
259 |
Alzheimer’s Disease |
human |
SORL1 |
PF |
|
30009200 |
259 |
Alzheimer's Disease |
human |
SORL1 |
RF |
|
26303663 |
259 |
Alzheimer's Disease |
human |
SORL1 |
RF |
when restricting the analysis to the 205 cases with a positive family history |
26303663 |
259 |
Alzheimer's Disease |
human |
SORL1 |
RF |
adjusted for age and gender |
25881907 |
259 |
Alzheimer's Disease |
human |
SORL1 |
RF |
adjusted foe age, gender, APOE 4 |
25881907 |
259 |
Alzheimer's Disease |
human |
SORL1 |
RF |
|
19368828 |
259 |
Alzheimer's disease |
human |
SORL1 |
RF |
|
24486888 |
259 |
Alzheimer's disease |
human |
SORL1 |
PF |
|
18407551 |
260 |
Alzheimer's disease |
human |
SORT1 |
PF |
|
27392867 |
261 |
Amyotrophic Lateral Sclerosis |
human |
SPG4 |
RF |
|
16009903 |
262 |
Amyotrophic lateral sclerosis |
human |
SQSTM1 |
RF |
|
22972638 |
263 |
Alzheimer’s Disease |
human |
SREBF2 |
RF |
significant dual associations with LOAD pathological biomarkers and gene expression levels |
29503034 |
264 |
Alzheimer's Disease |
human |
SRR |
RF |
|
29338921 |
265 |
Alzheimer's disease |
human |
STARD6 |
RF |
in combination with the APOE ε4 allele |
30666118 |
266 |
Alzheimer's disease |
human |
STH |
RF |
especially in caucasian population, late‐onset AD subjects and studies with high quality |
28211174 |
267 |
Parkinson's Disease |
human |
STK39 |
RF |
|
26469904 |
268 |
Amyotrophic lateral sclerosis |
human |
STX12 |
RF |
|
27455347 |
269 |
progressive supranuclear palsy |
human |
STX6 |
PF |
Meta-analysis |
29986742 |
270 |
Alzheimer's disease |
human |
SUMO1 |
RF |
|
27084229 |
271 |
Alzheimer's disease |
human |
SUMO2 |
RF |
|
27084229 |
271 |
Alzheimer's disease |
human |
SUMO2 |
RF |
|
27084229 |
272 |
Amyotrophic lateral sclerosis |
human |
SUN3, HUS1 |
RF |
|
25023141 |
273 |
Alzheimer’s Disease |
human |
SYMPK |
RF |
eQTL(expression quantitative trait loci) analysis for the five SNPs closely related to AD |
30319691 |
274 |
Amyotrophic lateral sclerosis |
human |
TARDBP |
RF |
|
25023141 |
274 |
Frontotemporal Lobar Degeneration |
human |
TARDBP |
RF |
|
18505686 |
274 |
Frontotemporal Lobar Degeneration |
human |
TARDBP |
RF |
heterozygous c.876_878delCAG |
22892647 |
275 |
Frontotemporal Lobar Degeneration |
human |
tau |
RF |
tau Genotype:H1H1;absence of APOE E2 allele |
12056929 |
275 |
Frontotemporal Lobar Degeneration |
human |
tau |
RF |
tau Genotype:H1H2+H2H2;presence of APOE E2 allele |
12056929 |
276 |
progressive supranuclear palsy |
human |
tau A0/A0 genotype |
RF |
|
9708963 |
278 |
Frontotemporal Lobar Degeneration |
human |
tau,APOE |
RF |
tau A3,APOE ε4 |
11303757 |
279 |
Alzheimer's disease |
human |
TFAM |
RF |
|
18430995 |
279 |
Parkinson's Disease |
human |
TFAM |
RF |
|
19925850 |
280 |
Alzheimer's Disease |
human |
TGF-β1 |
RF |
Genotype AC |
26327336 |
280 |
Alzheimer's Disease |
human |
TGF-β1 |
RF |
allele C |
26327336 |
280 |
Alzheimer's Disease |
human |
TGF-β1 |
RF |
Genotype TG |
26327336 |
280 |
Alzheimer's Disease |
human |
TGF-β1 |
RF |
allele G |
26327336 |
280 |
Alzheimer's Disease |
human |
TGF-β1 |
RF |
without the ApoE ε4 allele;AC |
26327336 |
280 |
Alzheimer's Disease |
human |
TGF-β1 |
RF |
without the ApoE ε4allele;C |
26327336 |
280 |
Alzheimer's Disease |
human |
TGF-β1 |
RF |
without the ApoE ε4 allele;TG |
26327336 |
280 |
Alzheimer's Disease |
human |
TGF-β1 |
RF |
without the ApoE ε4 allele;G |
26327336 |
280 |
Alzheimer's Disease |
human |
TGF-β1 |
RF |
AC+ CC vs AA |
26327336 |
281 |
Parkinson's Disease |
human |
TH |
RF |
|
20809526 |
282 |
Alzheimer's Disease |
human |
THBS2 |
RF |
|
29177109 |
283 |
Lewy body dementia |
human |
The apolipoprotein E (APOE) ε4 allele |
RF |
|
21552550 |
284 |
Amyotrophic lateral sclerosis |
human |
TIAM1 |
RF |
|
25023141 |
284 |
Amyotrophic Lateral Sclerosis |
human |
TIAM1 |
RF |
|
20801718 |
285 |
Alzheimer's disease |
human |
TLR2 |
PF |
|
26738351 |
286 |
Alzheimer's disease |
human |
TLR4 |
PF |
when incorporated into a haplotype with rs10759930, the strongest association was detected |
22272615 |
287 |
Alzheimer's disease |
human |
TMEM106B |
RF |
APOE interact |
24166182 |
287 |
Frontotemporal Dementia |
human |
TMEM106B |
PF |
C9ORF72 expansion carriers;Cohort 1 – controls and C9ORF72 repeat expansion carriers (FTD, FTD/MND, and MND, or other diagnosis) |
24385136 |
287 |
Frontotemporal Dementia |
human |
TMEM106B |
PF |
C9ORF72 expansion carriers;Cohort 1 – controls and C9ORF72 repeat expansion carriers (FTD, FTD/MND, and MND, or other diagnosis) |
24385136 |
287 |
Frontotemporal Lobar Degeneration |
human |
TMEM106B |
PF |
GRN carriers |
25085782 |
287 |
Frontotemporal Lobar Degeneration |
human |
TMEM106B |
PF |
for SNPs on chromosomes 1, 8, 10 and 11 genotyped |
21257233 |
287 |
Frontotemporal Lobar Degeneration |
human |
TMEM106B |
RF |
for chromosome 1 SNP association |
21257233 |
287 |
Frontotemporal Lobar Degeneration |
human |
TMEM106B |
RF |
for chromosome 1 SNP association |
21257233 |
287 |
Frontotemporal Lobar Degeneration |
human |
TMEM106B |
RF |
for chromosome 9 SNP association |
21257233 |
287 |
Frontotemporal Lobar Degeneration |
human |
TMEM106B |
RF |
for chromosome 9 SNP association |
21257233 |
287 |
Frontotemporal Lobar Degeneration |
human |
TMEM106B |
RF |
for chromosome 9 SNP association |
21257233 |
287 |
Frontotemporal Lobar Degeneration |
human |
TMEM106B |
RF |
for chromosome 9 SNP association |
21257233 |
287 |
Frontotemporal Lobar Degeneration |
human |
TMEM106B |
RF |
for chromosome 9 SNP association; Denotes the associated SNP’s from the FTLD-TDP GWAS. |
21257233 |
287 |
Frontotemporal Lobar Degeneration |
human |
TMEM106B |
RF |
for chromosome 9 SNP association; Denotes the associated SNP’s from the FTLD-TDP GWAS. |
21257233 |
287 |
Frontotemporal Lobar Degeneration |
human |
TMEM106B |
RF |
for chromosome 9 SNP association; Denotes the associated SNP’s from the FTLD-TDP GWAS;Denotes the associated SNP’s from the ALS GWAS |
21257233 |
287 |
Frontotemporal Lobar Degeneration |
human |
TMEM106B |
RF |
for chromosome 9 SNP association; Denotes the associated SNP’s from the FTLD-TDP GWAS. |
21257233 |
287 |
Frontotemporal Lobar Degeneration |
human |
TMEM106B |
RF |
for chromosome 9 SNP association |
21257233 |
287 |
Frontotemporal Lobar Degeneration |
human |
TMEM106B |
RF |
for chromosome 9 SNP association |
21257233 |
288 |
Alzheimer's disease |
human |
TMP21 |
RF |
|
28233271 |
289 |
Alzheimer's disease |
human |
TNFRSF1A, CDH1, CASP7, LRP1B and TG |
RF |
|
26621834 |
290 |
Alzheimer's disease |
human |
TNF-α |
RF |
in the APOE epsilon4 non-carriers |
18396294 |
290 |
Alzheimer's disease |
human |
TNF-α |
RF |
in the APOE epsilon4 non-carriers |
18396294 |
290 |
Multiple System Atrophy |
human |
TNF-α |
RF |
genotype |
29251119 |
290 |
Multiple System Atrophy |
human |
TNF-α |
RF |
allele |
29251119 |
291 |
Alzheimer's Disease |
human |
TNF-α -308 |
RF |
A vs. G allele |
25647294 |
291 |
Alzheimer's Disease |
human |
TNF-α -308 |
RF |
AA + AG vs. GG (dominant) |
25647294 |
291 |
Alzheimer's Disease |
human |
TNF-α -308 |
RF |
AA vs. AG + GG (recessive) |
25647294 |
291 |
Alzheimer's Disease |
human |
TNF-α -308 |
RF |
AA vs. GG |
25647294 |
291 |
Alzheimer's Disease |
human |
TNF-α -308 |
RF |
AA vs. AG |
25647294 |
292 |
Alzheimer’s Disease |
human |
TOMM40 |
RF |
|
29797398 |
292 |
Alzheimer’s Disease |
human |
TOMM40 |
RF |
|
29797398 |
292 |
Alzheimer's Disease |
human |
TOMM40 |
RF |
using logistic regression、Dataset:CHS( Cardiovascular Health Study) |
29107063 |
292 |
Alzheimer's Disease |
human |
TOMM40 |
RF |
using logistic regression、Dataset:FHS(Framingham Heart Study) |
29107063 |
292 |
Alzheimer's Disease |
human |
TOMM40 |
RF |
using logistic regression、Dataset:HRS(Health and Retirement Study) |
29107063 |
292 |
Alzheimer's Disease |
human |
TOMM40 |
RF |
using logistic regression、Dataset:HRS(Health and Retirement Study) |
29107063 |
292 |
Alzheimer's Disease |
human |
TOMM40 |
RF |
using logistic regression、Dataset:HRS(Health and Retirement Study) |
29107063 |
292 |
Alzheimer's Disease |
human |
TOMM40 |
RF |
using logistic regression、Dataset:LOADFS(Late Onset Alzheimer's Disease Family Study ) |
29107063 |
292 |
Alzheimer's Disease |
human |
TOMM40 |
RF |
using Cox regression、Dataset:CHS(Cardiovascular Health Study) |
29107063 |
292 |
Alzheimer's Disease |
human |
TOMM40 |
RF |
using Cox regression、Dataset:FHS(Framingham Heart Study) |
29107063 |
292 |
Alzheimer's Disease |
human |
TOMM40 |
RF |
using Cox regression、Dataset:HRS(Health and Retirement Study) |
29107063 |
292 |
Alzheimer's Disease |
human |
TOMM40 |
RF |
using Cox regression、Dataset:HRS(Health and Retirement Study) |
29107063 |
292 |
Alzheimer's disease |
human |
TOMM40 |
RF |
|
30443289 |
292 |
Alzheimer's disease |
human |
TOMM40 |
RF |
the association between the Asian and Caucasian groups was significantly different |
26795201 |
292 |
Alzheimer's disease |
human |
TOMM40 |
PF |
the association between the Asian and Caucasian groups was significantly different |
26795201 |
293 |
Alzheimer’s Disease |
human |
TREM2 |
RF |
|
30222607 |
293 |
Alzheimer’s Disease |
human |
TREM2 |
RF |
|
29794134 |
293 |
Alzheimer's Disease |
human |
TREM2 |
RF |
|
26037549 |
293 |
Alzheimer's Disease |
human |
TREM2 |
RF |
|
25936935 |
293 |
Alzheimer's Disease |
human |
TREM2 |
RF |
the T allele of the rs75932628 variant of TREM2 |
25260849 |
293 |
Alzheimer's Disease |
human |
TREM2 |
RF |
|
25160042 |
293 |
Alzheimer's disease |
human |
TREM2 |
RF |
|
24439484 |
293 |
Alzheimer's disease |
human |
TREM2 |
RF |
|
24041969 |
293 |
Alzheimer's disease |
human |
TREM2 |
RF |
|
24041969 |
293 |
Alzheimer's disease |
human |
TREM2 |
RF |
|
23855982 |
293 |
Amyotrophic lateral sclerosis |
human |
TREM2 |
RF |
|
24535663 |
293 |
Frontotemporal Dementia |
human |
TREM2 |
RF |
|
29557178 |
293 |
Frontotemporal Dementia |
human |
TREM2 |
RF |
|
23800361 |
293 |
Frontotemporal Lobar Degeneration |
human |
TREM2 |
RF |
|
24139279 |
293 |
Frontotemporal Lobar Degeneration |
human |
TREM2 |
RF |
A large consanguineous Colombian family segregating autosomal recessive FTLD |
23582655 |
293 |
Frontotemporal Lobar Degeneration |
human |
TREM2 |
RF |
Compound heterozygosity |
29557178 |
293 |
Frontotemporal Lobar Degeneration |
human |
TREM2 |
RF |
|
29557178 |
293 |
Frontotemporal Lobar Degeneration |
human |
TREM2 |
RF |
Compound heterozygosity |
29557178 |
293 |
Frontotemporal Lobar Degeneration |
human |
TREM2 |
RF |
|
29557178 |
293 |
Frontotemporal Lobar Degeneration |
human |
TREM2 |
RF |
Homozygosity |
29557178 |
293 |
Frontotemporal Lobar Degeneration |
human |
TREM2 |
RF |
|
23800361 |
293 |
Frontotemporal Lobar Degeneration |
human |
TREM2 |
RF |
T vs. C |
29322490 |
293 |
Frontotemporal Lobar Degeneration |
human |
TREM2 |
RF |
CT vs. CC |
29322490 |
293 |
Frontotemporal Lobar Degeneration |
human |
TREM2 |
RF |
CT+TT vs. CC |
29322490 |
293 |
Frontotemporal Lobar Degeneration |
human |
TREM2 |
RF |
carrier T vs. C |
29322490 |
293 |
Frontotemporal Lobar Degeneration |
human |
TREM2 |
RF |
T vs. G |
29322490 |
293 |
Frontotemporal Lobar Degeneration |
human |
TREM2 |
RF |
GT vs. GG |
29322490 |
293 |
Frontotemporal Lobar Degeneration |
human |
TREM2 |
RF |
GT+TT vs. GG |
29322490 |
293 |
Frontotemporal Lobar Degeneration |
human |
TREM2 |
RF |
carrier T vs. G |
29322490 |
293 |
Dementia with Lewy bodies |
human |
TREM2 |
RF |
|
28003435 |
293 |
Parkinson's Disease |
human |
TREM2 |
RF |
|
23800361 |
293 |
Alzheimer's Disease |
human |
TREM2 |
RF |
|
23380991 |
294 |
Multiple System Atrophy |
human |
TREM2 p.R47H |
RF |
patients with pathologically confirmed MSA |
30109269 |
294 |
Multiple System Atrophy |
human |
TREM2 p.R47H |
RF |
patients with clinically diagnosed MSA |
30109269 |
294 |
Multiple System Atrophy |
human |
TREM2 p.R47H |
RF |
patients with pathologically confirmed MSA |
30109269 |
294 |
Multiple System Atrophy |
human |
TREM2 p.R47H |
RF |
patients with clinically diagnosed MSA |
30109269 |
295 |
Alzheimer's disease |
human |
TREML2 |
PF |
|
24439484 |
296 |
Alzheimer's disease |
human |
TYROBP |
RF |
|
27658901 |
297 |
Frontotemporal Lobar Degeneration |
human |
UBAP1 |
RF |
Haplotype:TGC |
19217189 |
297 |
Frontotemporal Lobar Degeneration |
human |
UBAP1 |
RF |
Haplotype:TGC |
19217189 |
297 |
Frontotemporal Lobar Degeneration |
human |
UBAP1 |
RF |
Haplotype:GCT |
19217189 |
298 |
Alzheimer's disease |
human |
ubiquilin 1 gene (UBQLN1) |
RF |
This effect was stronger in a group of LOAD patients without APOE4 allele |
18340109 |
299 |
Parkinson's Disease |
human |
UCHL1 |
RF |
|
22839974 |
300 |
Amyotrophic Lateral Sclerosis |
human |
UNC12A |
RF |
|
22118904 |
301 |
Amyotrophic lateral sclerosis |
human |
UNC13A |
RF |
especially in Caucasian and European subjects |
31201598 |
301 |
Amyotrophic Lateral Sclerosis |
human |
UNC13A |
RF |
|
22118904 |
301 |
Frontotemporal Lobar Degeneration |
human |
UNC13A |
RF |
Discovery stage |
30739198 |
301 |
Frontotemporal Lobar Degeneration |
human |
UNC13A |
RF |
Replication stage |
30739198 |
302 |
Amyotrophic lateral sclerosis |
mouse |
VAPB |
RF |
|
23446633 |
302 |
Amyotrophic lateral sclerosis |
zebrafish |
VAPB |
RF |
|
23446633 |
303 |
Frontotemporal Lobar Degeneration |
human |
VEGF |
RF |
A allele |
18729809 |
303 |
Frontotemporal Lobar Degeneration |
human |
VEGF |
RF |
A allele |
18729809 |
303 |
Parkinson's Disease |
human |
VEGF |
RF |
|
27481110 |
304 |
progressive supranuclear palsy |
human |
VEGF haplotypes(AGG) |
RF |
|
20413880 |
305 |
Parkinson's Disease |
human |
VMAT2 |
RF |
|
27137201 |
306 |
Amyotrophic lateral sclerosis |
human |
WDR49 |
RF |
|
27455347 |
307 |
Amyotrophic lateral sclerosis |
human |
ZSCAN5B |
RF |
|
27455347 |
191 |
Amyotrophic Lateral Sclerosis |
Human |
MTHFR(T677T/A1298A) |
RF |
|
22385294 |
52 |
Alzheimer's disease |
human |
CD33 |
RF |
|
31611055 |
903 |
Tourette syndrome (TS) |
human |
CNR 1 |
RF |
|
32753051 |
178 |
Amyotrophic lateral sclerosis |
human |
MFSD8 |
RF |
|
32485802 |
904 |
Parkinson's Disease |
human |
Monoamine?oxidase-B?(MAO-B) |
RF |
levodopa-induced dyskinesia(LID) |
32979926 |
905 |
Tourette syndrome (TS) |
human |
PCNT |
RF |
|
32979926 |
905 |
Tourette syndrome (TS) |
human |
PCNT |
RF |
|
32979926 |
905 |
Tourette syndrome (TS) |
human |
PCNT |
RF |
|
32979926 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
32979926 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
32979926 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
32979926 |
15 |
Alzheimer's disease |
human |
APOE |
RF |
|
32979926 |
27 |
Parkinson's Disease |
human |
ATP10B |
RF |
recessive loss of function mutations |
33177243 |
44 |
Amyotrophic lateral sclerosis |
human |
C9orf72 |
RF |
|
33177243 |
44 |
Amyotrophic lateral sclerosis |
human |
C9orf72 |
RF |
|
33177243 |
906 |
Amyotrophic lateral sclerosis |
human |
CACNA1H |
RF |
|
33177243 |
907 |
Creutzfeldt-Jakob disease |
human |
Cerebroside sulfotransferase (GAL3ST1) |
RF |
|
32870568 |
908 |
Creutzfeldt-Jakob disease |
human |
GAL3ST1 |
RF |
|
32625160 |
909 |
Parkinson's Disease |
human |
GP1BA |
RF |
|
32625160 |
910 |
Parkinson's Disease |
human |
GP6 |
RF |
|
32625160 |
122 |
Frontotemporal Lobar Degeneration |
human |
GRN |
RF |
FTLD with TAR DNA-binding protein (TDP-43) inclusions |
32625160 |
122 |
Frontotemporal dementia |
human |
GRN |
RF |
in CC homozygous patients |
32946420 |
912 |
Alzheimer's disease |
human |
Ig γ marker (GM) allotypes |
RF |
encoded by highly polymorphic IGHG genes on chromosome 14q32 |
33006184 |
913 |
Parkinson's Disease |
human |
ITGB5 |
RF |
|
33006184 |
914 |
Amyotrophic lateral sclerosis |
human |
LRP10 |
RF |
rare, pathogenic variants in LRP10 |
33006184 |
915 |
Parkinson's Disease |
human |
P2RY12 |
RF |
|
32687038 |
231 |
Creutzfeldt-Jakob disease |
human |
PRNP |
RF |
|
33138082 |
916 |
Amyotrophic lateral sclerosis |
human |
SPG7 mutations |
RF |
|
33138082 |
917 |
Creutzfeldt-Jakob disease |
human |
STX6(Syntaxin-6) |
RF |
|
33138082 |
917 |
Creutzfeldt-Jakob disease |
human |
STX6(Syntaxin-6) |
RF |
|
33138082 |
287 |
Frontotemporal Lobar Degeneration |
human |
TMEM106B |
RF |
FTLD with TAR DNA-binding protein (TDP-43) inclusions |
33138082 |
918 |
Frontotemporal dementia |
human |
TP53 |
RF |
|
33138082 |
919 |
Amyotrophic lateral sclerosis |
human |
intermediate-length alleles when present in both alleles |
RF |
Carriership of two intermediate-length alleles was associated with ALS, when the longer allele was ≥ 17 repeats |
33021140 |
919 |
Amyotrophic lateral sclerosis |
human |
intermediate-length alleles when present in both alleles |
RF |
Carriership of two intermediate-length alleles was associated with ALS, when the longer allele was ≥ 21 repeats |
33021140 |