eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pick disease | ||||
| Disease ID | 187 |
|---|---|
| Disease | pick disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0270707 | kluver-bucy syndrome |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:8) C0026848 | myopathy | 28 C0871189 | psychotic symptoms | 3 C0235946 | cortical atrophy | 2 C0679466 | cognitive deficits | 2 C0235946 | brain atrophy | 1 C0085084 | motor neurone disease | 1 C0497327 | dementia | 1 C0004941 | behavioral symptoms | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:176) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121909329 | 19506019 | 7415 | VCP | umls:C0236642 | BeFree | Therefore, we propose that hIBMPFTD p97/VCP mutants p97(R155P) and p97(A232E) possess structural defects that may compromise the mechanism of p97/VCP activity within large multiprotein complexes. | 0.017915164 | 2009 | VCP | 9 | 35065363 | C | T,G |
| rs121909329 | 18341608 | 7415 | VCP | umls:C0338451 | BeFree | Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling. | 0.019000931 | 2008 | VCP | 9 | 35065363 | C | T,G |
| rs121909329 | 19506019 | 7415 | VCP | umls:C0338451 | BeFree | Therefore, we propose that hIBMPFTD p97/VCP mutants p97(R155P) and p97(A232E) possess structural defects that may compromise the mechanism of p97/VCP activity within large multiprotein complexes. | 0.019000931 | 2009 | VCP | 9 | 35065363 | C | T,G |
| rs121909329 | 18341608 | 7415 | VCP | umls:C0236642 | BeFree | Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling. | 0.017915164 | 2008 | VCP | 9 | 35065363 | C | T,G |
| rs121909330 | 21320982 | 7415 | VCP | umls:C0338451 | BeFree | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family. | 0.019000931 | 2011 | VCP | 9 | 35065364 | G | A |
| rs121909330 | 21320982 | 7415 | VCP | umls:C0236642 | BeFree | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family. | 0.017915164 | 2011 | VCP | 9 | 35065364 | G | A |
| rs121909331 | 19506019 | 7415 | VCP | umls:C0236642 | BeFree | Therefore, we propose that hIBMPFTD p97/VCP mutants p97(R155P) and p97(A232E) possess structural defects that may compromise the mechanism of p97/VCP activity within large multiprotein complexes. | 0.017915164 | 2009 | VCP | 9 | 35064167 | G | T |
| rs121909331 | 19506019 | 7415 | VCP | umls:C0338451 | BeFree | Therefore, we propose that hIBMPFTD p97/VCP mutants p97(R155P) and p97(A232E) possess structural defects that may compromise the mechanism of p97/VCP activity within large multiprotein complexes. | 0.019000931 | 2009 | VCP | 9 | 35064167 | G | T |
| rs140547520 | 24309268 | 5216 | PFN1 | umls:C0338451 | BeFree | Here, we combine a screen of a new cohort of 383 ALS patients with multiple-sequence datasets to refine estimates of the ALS and FTD risk associated with PFN1 E117G. | 0.001085767 | 2014 | PFN1 | 17 | 4945973 | T | C |
| rs140547520 | 24309268 | 5216 | PFN1 | umls:C0236642 | BeFree | Here, we combine a screen of a new cohort of 383 ALS patients with multiple-sequence datasets to refine estimates of the ALS and FTD risk associated with PFN1 E117G. | 0.001085767 | 2014 | PFN1 | 17 | 4945973 | T | C |
| rs143624519 | 23518664 | 4137 | MAPT | umls:C0338451 | BeFree | Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease. | 0.461303288 | 2014 | MAPT | 17 | 45991484 | G | A,T |
| rs143624519 | 23518664 | 4137 | MAPT | umls:C0236642 | BeFree | Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease. | 0.431670586 | 2014 | MAPT | 17 | 45991484 | G | A,T |
| rs1816 | 12112206 | 4137 | MAPT | umls:C0338451 | BeFree | Furthermore, we analyzed some markers located in the common region of linkage (D17S800-D17S791), associated with some cases of familial frontotemporal dementia (FTDP-17), and the SNPs rs1816 and rs937 close to the tau gene, to determine their possible association with sporadic PSP. | 0.461303288 | 2002 | KANSL1 | 17 | 46199252 | A | G |
| rs193026789 | NA | 2896 | GRN | umls:C0338451 | CLINVAR | NA | 0.282117097 | NA | GRN | 17 | 44352047 | C | T |
| rs1990622 | 25096617 | 54664 | TMEM106B | umls:C0338451 | BeFree | Association of TMEM106B rs1990622 marker and frontotemporal dementia: evidence for a recessive effect and meta-analysis. | 0.002171535 | 2016 | NA | 7 | 12244161 | A | G |
| rs1990622 | 24442578 | 2896 | GRN | umls:C0338451 | BeFree | Previous reports have shown that TMEM106B is a genetic modifier of FTLD-TDP caused by progranulin (GRN) mutations, with the major (risk) allele of rs1990622 associating with earlier age at onset of disease. | 0.282117097 | 2013 | NA | 7 | 12244161 | A | G |
| rs1990622 | 25096617 | 54664 | TMEM106B | umls:C0236642 | BeFree | Association of TMEM106B rs1990622 marker and frontotemporal dementia: evidence for a recessive effect and meta-analysis. | 0.001085767 | 2016 | NA | 7 | 12244161 | A | G |
| rs1990622 | 24442578 | 54664 | TMEM106B | umls:C0338451 | BeFree | Previous reports have shown that TMEM106B is a genetic modifier of FTLD-TDP caused by progranulin (GRN) mutations, with the major (risk) allele of rs1990622 associating with earlier age at onset of disease. | 0.002171535 | 2013 | NA | 7 | 12244161 | A | G |
| rs1990622 | 24442578 | 203228 | C9orf72 | umls:C0338451 | BeFree | Intriguingly, the genotype that confers increased risk for developing FTLD-TDP (major, or T, allele of rs1990622) is associated with later age at onset and death in C9orf72 expansion carriers, providing an example of sign epistasis in human neurodegenerative disease. | 0.042887816 | 2013 | NA | 7 | 12244161 | A | G |
| rs302668 | 24943344 | 23682 | RAB38 | umls:C0338451 | GWASCAT | We also identified a potential novel locus at 11q14, encompassing RAB38/CTSC (the transcripts of which are related to lysosomal biology), for the behavioural FTD subtype for which joint analyses showed suggestive association for rs302668 (p=2·44 × 10(-7); 0·814 [0·71-0·92]). | 0.12 | 2014 | RAB38 | 11 | 88143743 | T | C |
| rs3173615 | 23742080 | 2896 | GRN | umls:C0338451 | BeFree | We studied the p.T185S TMEM106B genetic variant previously implicated in frontotemporal dementia with TAR DNA binding protein 43 pathology caused by progranulin mutations. | 0.282117097 | 2013 | TMEM106B | 7 | 12229791 | C | G |
| rs3173615 | 23742080 | 54664 | TMEM106B | umls:C0338451 | BeFree | TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia. | 0.002171535 | 2013 | TMEM106B | 7 | 12229791 | C | G |
| rs3173615 | 23742080 | 54664 | TMEM106B | umls:C0236642 | BeFree | TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia. | 0.001085767 | 2013 | TMEM106B | 7 | 12229791 | C | G |
| rs3173615 | 23742080 | 2896 | GRN | umls:C0236642 | BeFree | We studied the p.T185S TMEM106B genetic variant previously implicated in frontotemporal dementia with TAR DNA binding protein 43 pathology caused by progranulin mutations. | 0.026601303 | 2013 | TMEM106B | 7 | 12229791 | C | G |
| rs367543041 | 21803454 | 23435 | TARDBP | umls:C0236642 | BeFree | In that report, we identified a 53-year-old man carrying a homozygous A382T missense mutation of the TARDBP gene with a complex neurological syndrome including amyotrophic lateral sclerosis, parkinsonian features, motor and vocal tics, and frontotemporal dementia (FTD). | 0.018729489 | 2011 | TARDBP | 1 | 11022553 | G | A,C |
| rs367543041 | 21803454 | 23435 | TARDBP | umls:C0338451 | BeFree | In that report, we identified a 53-year-old man carrying a homozygous A382T missense mutation of the TARDBP gene with a complex neurological syndrome including amyotrophic lateral sclerosis, parkinsonian features, motor and vocal tics, and frontotemporal dementia (FTD). | 0.03474456 | 2011 | TARDBP | 1 | 11022553 | G | A,C |
| rs370140745 | 23885714 | 5663 | PSEN1 | umls:C0338451 | BeFree | Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16). | 0.369077134 | 2013 | MAPT | 17 | 45999485 | G | A |
| rs370140745 | 23885714 | 5663 | PSEN1 | umls:C0236642 | BeFree | Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16). | 0.247610304 | 2013 | MAPT | 17 | 45999485 | G | A |
| rs370140745 | 23885714 | 4137 | MAPT | umls:C0338451 | BeFree | Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16). | 0.461303288 | 2013 | MAPT | 17 | 45999485 | G | A |
| rs4878104 | 22785394 | 1612 | DAPK1 | umls:C0236642 | BeFree | We showed a positive association between rs4878104 and FTD, suggesting a possible implication of the DAPK1 genetic variant in the susceptibility to FTD. | 0.000271442 | 2012 | DAPK1 | 9 | 87578076 | C | T |
| rs4878104 | 22785394 | 1612 | DAPK1 | umls:C0338451 | BeFree | We showed a positive association between rs4878104 and FTD, suggesting a possible implication of the DAPK1 genetic variant in the susceptibility to FTD. | 0.000271442 | 2012 | DAPK1 | 9 | 87578076 | C | T |
| rs5848 | 21047645 | 724029 | MIR659 | umls:C0236642 | BeFree | This is consistent with the finding that miR-659 binding to the high risk T allele of rs5848 may augment translational inhibition of GRN and alter risk of FTD and possibly other dementias. | 0.000542884 | 2011 | GRN | 17 | 44352876 | C | T |
| rs5848 | 19847305 | 23435 | TARDBP | umls:C0338451 | BeFree | A single nucleotide polymorphism (rs5848) located in the 3'- untranslated region of GRN has recently been associated with a risk of frontotemporal lobar degeneration (FTLD) in North American population particularly in pathologically confirmed cases with neural inclusions immunoreactive for ubiquitin and TAR DNA-binding protein 43 (TDP-43), but negative for tau and alpha-synuclein (FTLD-TDP). | 0.03474456 | 2009 | GRN | 17 | 44352876 | C | T |
| rs5848 | 19847305 | 2896 | GRN | umls:C0338451 | BeFree | A single nucleotide polymorphism (rs5848) located in the 3'- untranslated region of GRN has recently been associated with a risk of frontotemporal lobar degeneration (FTLD) in North American population particularly in pathologically confirmed cases with neural inclusions immunoreactive for ubiquitin and TAR DNA-binding protein 43 (TDP-43), but negative for tau and alpha-synuclein (FTLD-TDP). | 0.282117097 | 2009 | GRN | 17 | 44352876 | C | T |
| rs5848 | 21047645 | 724029 | MIR659 | umls:C0338451 | BeFree | This is consistent with the finding that miR-659 binding to the high risk T allele of rs5848 may augment translational inhibition of GRN and alter risk of FTD and possibly other dementias. | 0.000542884 | 2011 | GRN | 17 | 44352876 | C | T |
| rs5848 | 21047645 | 2896 | GRN | umls:C0338451 | BeFree | This is consistent with the finding that miR-659 binding to the high risk T allele of rs5848 may augment translational inhibition of GRN and alter risk of FTD and possibly other dementias. | 0.282117097 | 2011 | GRN | 17 | 44352876 | C | T |
| rs5848 | 19473366 | 2896 | GRN | umls:C0338451 | BeFree | A single nucleotide polymorphism in the 3'-untranslated region of the progranulin gene (GRN; 3'UTR+78C>T; rs5848) was reported to alter the risk for frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U). | 0.282117097 | 2009 | GRN | 17 | 44352876 | C | T |
| rs5848 | 21047645 | 2896 | GRN | umls:C0236642 | BeFree | This is consistent with the finding that miR-659 binding to the high risk T allele of rs5848 may augment translational inhibition of GRN and alter risk of FTD and possibly other dementias. | 0.026601303 | 2011 | GRN | 17 | 44352876 | C | T |
| rs63749817 | NA | 2896 | GRN | umls:C0338451 | CLINVAR | NA | 0.282117097 | NA | GRN | 17 | 44350801 | G | A,C |
| rs63750082 | 23885714 | 5663 | PSEN1 | umls:C0236642 | BeFree | Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16). | 0.247610304 | 2013 | PSEN1 | 14 | 73192712 | G | C,T |
| rs63750082 | 23885714 | 4137 | MAPT | umls:C0338451 | BeFree | Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16). | 0.461303288 | 2013 | PSEN1 | 14 | 73192712 | G | C,T |
| rs63750082 | 23885714 | 5663 | PSEN1 | umls:C0338451 | BeFree | Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16). | 0.369077134 | 2013 | PSEN1 | 14 | 73192712 | G | C,T |
| rs63750092 | NA | 4137 | MAPT | umls:C0338451 | CLINVAR | NA | 0.461303288 | NA | MAPT | 17 | 46014277 | A | T |
| rs63750129 | NA | 4137 | MAPT | umls:C0236642 | CLINVAR | NA | 0.431670586 | NA | MAPT | 17 | 45996612 | A | C |
| rs63750129 | 18490011 | 4137 | MAPT | umls:C0236642 | BeFree | Our strategy was to use the natural tau promoter for expressing the human-tau (htau) gene with two mutations K257T/P301S (double mutant, DM) associated with severe phenotypes of frontotemporal-dementia in humans. | 0.431670586 | 2008 | MAPT | 17 | 45996612 | A | C |
| rs63750129 | 18490011 | 4137 | MAPT | umls:C0338451 | BeFree | Our strategy was to use the natural tau promoter for expressing the human-tau (htau) gene with two mutations K257T/P301S (double mutant, DM) associated with severe phenotypes of frontotemporal-dementia in humans. | 0.461303288 | 2008 | MAPT | 17 | 45996612 | A | C |
| rs63750215 | 16155344 | 4137 | MAPT | umls:C0338451 | BeFree | Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerization from gray matter obtained from patients with AD caused by PSEN2 N141I mutation or frontotemporal dementia with parkinsonism linked to chromosome-17 caused (FTDP-17) by TAU V337M or P301L mutation. | 0.461303288 | 2005 | PSEN2 | 1 | 226885603 | A | T |
| rs63750215 | 16155344 | 5664 | PSEN2 | umls:C0338451 | BeFree | Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerization from gray matter obtained from patients with AD caused by PSEN2 N141I mutation or frontotemporal dementia with parkinsonism linked to chromosome-17 caused (FTDP-17) by TAU V337M or P301L mutation. | 0.003724241 | 2005 | PSEN2 | 1 | 226885603 | A | T |
| rs63750247 | 22072213 | 2896 | GRN | umls:C0236642 | BeFree | The progranulin gene (GRN) g.10325_10331delCTGCTGT (relative to nt1 in NG_007886.1), alias Cys157LysfsX97, has been so far reported only once in a patient with frontotemporal dementia. | 0.026601303 | 2012 | GRN | 17 | 44350447 | CTGCTGT | - |
| rs63750247 | 22072213 | 2896 | GRN | umls:C0338451 | BeFree | The progranulin gene (GRN) g.10325_10331delCTGCTGT (relative to nt1 in NG_007886.1), alias Cys157LysfsX97, has been so far reported only once in a patient with frontotemporal dementia. | 0.282117097 | 2012 | GRN | 17 | 44350447 | CTGCTGT | - |
| rs63750306 | 23489366 | 5663 | PSEN1 | umls:C0236642 | BeFree | The PS-1 M146V mutation was found in the 50-year-old subject (the proband) with family history of early-onset FTD. | 0.247610304 | 2013 | PSEN1 | 14 | 73173663 | A | C,G,T |
| rs63750306 | 23489366 | 5663 | PSEN1 | umls:C0338451 | BeFree | The PS-1 M146V mutation was found in the 50-year-old subject (the proband) with family history of early-onset FTD. | 0.369077134 | 2013 | PSEN1 | 14 | 73173663 | A | C,G,T |
| rs63750349 | 17072625 | 4137 | MAPT | umls:C0236642 | BeFree | Biochemical and pathological characterization of frontotemporal dementia due to a Leu266Val mutation in microtubule-associated protein tau in an African American individual. | 0.431670586 | 2007 | MAPT | 17 | 45996638 | C | G,T |
| rs63750349 | 12509859 | 4137 | MAPT | umls:C0338451 | BeFree | A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology. | 0.461303288 | 2003 | MAPT | 17 | 45996638 | C | G,T |
| rs63750349 | 12509859 | 4137 | MAPT | umls:C0236642 | BeFree | A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology. | 0.431670586 | 2003 | MAPT | 17 | 45996638 | C | G,T |
| rs63750349 | 17072625 | 4137 | MAPT | umls:C0338451 | BeFree | Biochemical and pathological characterization of frontotemporal dementia due to a Leu266Val mutation in microtubule-associated protein tau in an African American individual. | 0.461303288 | 2007 | MAPT | 17 | 45996638 | C | G,T |
| rs63750349 | NA | 4137 | MAPT | umls:C0338451 | CLINVAR | NA | 0.461303288 | NA | MAPT | 17 | 45996638 | C | G,T |
| rs63750376 | 10995239 | 4137 | MAPT | umls:C0338451 | BeFree | We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). | 0.461303288 | 2000 | MAPT | 17 | 45996657 | G | T |
| rs63750376 | NA | 4137 | MAPT | umls:C0338451 | CLINVAR | NA | 0.461303288 | NA | MAPT | 17 | 45996657 | G | T |
| rs63750376 | 10995239 | 4137 | MAPT | umls:C0236642 | BeFree | We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). | 0.431670586 | 2000 | MAPT | 17 | 45996657 | G | T |
| rs63750412 | 17202431 | 3483 | IGFALS | umls:C0338451 | BeFree | A third PGRN sequence variation (R433W) was found in an FTD patient with family history of ALS. | 0.004885954 | 2007 | GRN | 17 | 44352132 | C | T |
| rs63750412 | 17202431 | 3483 | IGFALS | umls:C0236642 | BeFree | A third PGRN sequence variation (R433W) was found in an FTD patient with family history of ALS. | 0.003257302 | 2007 | GRN | 17 | 44352132 | C | T |
| rs63750412 | 17202431 | 6647 | SOD1 | umls:C0236642 | BeFree | A third PGRN sequence variation (R433W) was found in an FTD patient with family history of ALS. | 0.004885954 | 2007 | GRN | 17 | 44352132 | C | T |
| rs63750412 | 17202431 | 6647 | SOD1 | umls:C0338451 | BeFree | A third PGRN sequence variation (R433W) was found in an FTD patient with family history of ALS. | 0.006514605 | 2007 | GRN | 17 | 44352132 | C | T |
| rs63750418 | 23885714 | 5663 | PSEN1 | umls:C0338451 | BeFree | Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16). | 0.369077134 | 2013 | PSEN1 | 14 | 73186877 | T | C |
| rs63750418 | 23885714 | 5663 | PSEN1 | umls:C0236642 | BeFree | Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16). | 0.247610304 | 2013 | PSEN1 | 14 | 73186877 | T | C |
| rs63750418 | 23885714 | 4137 | MAPT | umls:C0338451 | BeFree | Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16). | 0.461303288 | 2013 | PSEN1 | 14 | 73186877 | T | C |
| rs63750424 | 16182262 | 4137 | MAPT | umls:C0236642 | BeFree | Mutant R406W human tau was originally identified in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) and causes a hereditary tauopathy that clinically resembles Alzheimer's disease (AD). | 0.431670586 | 2005 | MAPT | 17 | 46024061 | C | T |
| rs63750424 | 12368474 | 4137 | MAPT | umls:C0338451 | BeFree | The R406W tau mutation found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) causes a hereditary tauopathy clinically resembling Alzheimer's disease. | 0.461303288 | 2002 | MAPT | 17 | 46024061 | C | T |
| rs63750424 | 10995239 | 4137 | MAPT | umls:C0338451 | BeFree | We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). | 0.461303288 | 2000 | MAPT | 17 | 46024061 | C | T |
| rs63750424 | 12368474 | 4137 | MAPT | umls:C0236642 | BeFree | The R406W tau mutation found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) causes a hereditary tauopathy clinically resembling Alzheimer's disease. | 0.431670586 | 2002 | MAPT | 17 | 46024061 | C | T |
| rs63750424 | 12414518 | 4137 | MAPT | umls:C0338451 | BeFree | Conditional expression systems for 4-repeat wild-type (WT) tau or the corresponding mutants V337M and R406W were established in human neuroglioma H4 cells to study the effect of tau mutations on the physicochemical properties of tau, and to develop a cellular model for the formation of filamentous tau characteristic of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and Alzheimer's disease. | 0.461303288 | 2002 | MAPT | 17 | 46024061 | C | T |
| rs63750424 | NA | 4137 | MAPT | umls:C0338451 | CLINVAR | NA | 0.461303288 | NA | MAPT | 17 | 46024061 | C | T |
| rs63750424 | 10995239 | 4137 | MAPT | umls:C0236642 | BeFree | We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). | 0.431670586 | 2000 | MAPT | 17 | 46024061 | C | T |
| rs63750424 | 25377499 | 4137 | MAPT | umls:C0338451 | BeFree | We report the autopsy results of a patient with familial dementia who was diagnosed as having frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) with an R406W mutation in the microtubule-associated protein tau (MAPT) gene. | 0.461303288 | 2014 | MAPT | 17 | 46024061 | C | T |
| rs63750424 | 16182262 | 4137 | MAPT | umls:C0338451 | BeFree | Mutant R406W human tau was originally identified in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) and causes a hereditary tauopathy that clinically resembles Alzheimer's disease (AD). | 0.461303288 | 2005 | MAPT | 17 | 46024061 | C | T |
| rs63750512 | 11193177 | 4137 | MAPT | umls:C0236642 | BeFree | Progress in hereditary tauopathies: a mutation in the Tau gene (G389R) causes a Pick disease-like syndrome. | 0.431670586 | 2000 | MAPT | 17 | 46024010 | G | A,C |
| rs63750512 | 15844669 | 4137 | MAPT | umls:C0236642 | BeFree | Slow wave and rem sleep mechanisms are differently altered in hereditary pick disease associated with the TAU G389R mutation. | 0.431670586 | 2005 | MAPT | 17 | 46024010 | G | A,C |
| rs63750512 | NA | 4137 | MAPT | umls:C0236642 | CLINVAR | NA | 0.431670586 | NA | MAPT | 17 | 46024010 | G | A,C |
| rs63750512 | 15844669 | 4137 | MAPT | umls:C0338451 | BeFree | We report a longitudinal polysomnographic and 18FDG-PET study in a 38-year-old male with FTDP17 carrying the Tau gene mutation G389R. | 0.461303288 | 2005 | MAPT | 17 | 46024010 | G | A,C |
| rs63750570 | NA | 4137 | MAPT | umls:C0338451 | CLINVAR | NA | 0.461303288 | NA | MAPT | 17 | 46018629 | G | A |
| rs63750570 | 25471585 | 4137 | MAPT | umls:C0236642 | BeFree | Here, we address this question using a mouse model expressing the entire human tau gene with an FTD-associated mutation (V337M). | 0.431670586 | 2015 | MAPT | 17 | 46018629 | G | A |
| rs63750570 | 10995239 | 4137 | MAPT | umls:C0236642 | BeFree | We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). | 0.431670586 | 2000 | MAPT | 17 | 46018629 | G | A |
| rs63750570 | 9811325 | 4137 | MAPT | umls:C0338451 | BeFree | The conclusion is that the type and distribution of tau deposits in HFTD1 and HFTD2, the physical structure of filaments, and tau isoform composition in HFTD1 differ from Alzheimer's disease and an FTDP-17 family with a V337M mutation in the tau gene. | 0.461303288 | 1998 | MAPT | 17 | 46018629 | G | A |
| rs63750570 | 16155344 | 5664 | PSEN2 | umls:C0338451 | BeFree | Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerization from gray matter obtained from patients with AD caused by PSEN2 N141I mutation or frontotemporal dementia with parkinsonism linked to chromosome-17 caused (FTDP-17) by TAU V337M or P301L mutation. | 0.003724241 | 2005 | MAPT | 17 | 46018629 | G | A |
| rs63750570 | 10995239 | 4137 | MAPT | umls:C0338451 | BeFree | We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). | 0.461303288 | 2000 | MAPT | 17 | 46018629 | G | A |
| rs63750570 | 12414518 | 4137 | MAPT | umls:C0338451 | BeFree | Conditional expression systems for 4-repeat wild-type (WT) tau or the corresponding mutants V337M and R406W were established in human neuroglioma H4 cells to study the effect of tau mutations on the physicochemical properties of tau, and to develop a cellular model for the formation of filamentous tau characteristic of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and Alzheimer's disease. | 0.461303288 | 2002 | MAPT | 17 | 46018629 | G | A |
| rs63750570 | 25471585 | 4137 | MAPT | umls:C0338451 | BeFree | Here, we address this question using a mouse model expressing the entire human tau gene with an FTD-associated mutation (V337M). | 0.461303288 | 2015 | MAPT | 17 | 46018629 | G | A |
| rs63750570 | 16155344 | 4137 | MAPT | umls:C0338451 | BeFree | Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerization from gray matter obtained from patients with AD caused by PSEN2 N141I mutation or frontotemporal dementia with parkinsonism linked to chromosome-17 caused (FTDP-17) by TAU V337M or P301L mutation. | 0.461303288 | 2005 | MAPT | 17 | 46018629 | G | A |
| rs63750573 | 15047590 | 4137 | MAPT | umls:C0236642 | BeFree | Frontotemporal dementia with Pick-type histology associated with Q336R mutation in the tau gene. | 0.431670586 | 2004 | MAPT | 17 | 46018627 | A | G |
| rs63750573 | 23998300 | 4137 | MAPT | umls:C0236642 | BeFree | We report a case of frontotemporal dementia caused by a novel MAPT mutation (Q351R) with a remarkably long amnestic presentation mimicking familial Alzheimer's disease. | 0.431670586 | 2015 | MAPT | 17 | 46018627 | A | G |
| rs63750573 | 15047590 | 4137 | MAPT | umls:C0338451 | BeFree | Frontotemporal dementia with Pick-type histology associated with Q336R mutation in the tau gene. | 0.461303288 | 2004 | MAPT | 17 | 46018627 | A | G |
| rs63750573 | 23998300 | 4137 | MAPT | umls:C0338451 | BeFree | We report a case of frontotemporal dementia caused by a novel MAPT mutation (Q351R) with a remarkably long amnestic presentation mimicking familial Alzheimer's disease. | 0.461303288 | 2015 | MAPT | 17 | 46018627 | A | G |
| rs63750635 | NA | 4137 | MAPT | umls:C0236642 | CLINVAR | NA | 0.431670586 | NA | MAPT | 17 | 46014286 | C | T |
| rs63750711 | 11117541 | 4137 | MAPT | umls:C0236642 | BeFree | We report on a 55-year old woman with frontotemporal dementia and a family history of FTDP-17 in whom we found a novel E12 (Glu342Val) tau gene mutation, prominent frontotemporal neuron loss, intracytoplasmic tau aggregates, paired helical tau filaments, increased 4R tau messenger RNA, increased 4R tau without E2 or E3 inserts, decreased 4R tau with these inserts, and a 4R:3R tau ratio greater than 1 in gray and white matter. | 0.431670586 | 2000 | MAPT | 17 | 46018645 | A | T |
| rs63750711 | 11117541 | 4137 | MAPT | umls:C0338451 | BeFree | We report on a 55-year old woman with frontotemporal dementia and a family history of FTDP-17 in whom we found a novel E12 (Glu342Val) tau gene mutation, prominent frontotemporal neuron loss, intracytoplasmic tau aggregates, paired helical tau filaments, increased 4R tau messenger RNA, increased 4R tau without E2 or E3 inserts, decreased 4R tau with these inserts, and a 4R:3R tau ratio greater than 1 in gray and white matter. | 0.461303288 | 2000 | MAPT | 17 | 46018645 | A | T |
| rs63750711 | NA | 4137 | MAPT | umls:C0338451 | CLINVAR | NA | 0.461303288 | NA | MAPT | 17 | 46018645 | A | T |
| rs63750756 | 17319286 | 4137 | MAPT | umls:C0236642 | BeFree | We present a case of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) harboring the N279K mutation in the MAPT gene from the family known as pallido-ponto-nigral degeneration (PPND). | 0.431670586 | 2007 | MAPT | 17 | 46010324 | T | G |
| rs63750756 | 17639429 | 4137 | MAPT | umls:C0338451 | BeFree | Here we show that Lrrk2 is closely associated with the tau-positive inclusions in eight members of a family with frontotemporal dementia of the pallido-ponto-nigral degeneration type linked to the chromosome 17 N279K tau mutation (N279K/FTDP-17/PPND). | 0.461303288 | 2007 | MAPT | 17 | 46010324 | T | G |
| rs63750756 | 17639429 | 4137 | MAPT | umls:C0236642 | BeFree | Here we show that Lrrk2 is closely associated with the tau-positive inclusions in eight members of a family with frontotemporal dementia of the pallido-ponto-nigral degeneration type linked to the chromosome 17 N279K tau mutation (N279K/FTDP-17/PPND). | 0.431670586 | 2007 | MAPT | 17 | 46010324 | T | G |
| rs63750756 | 17196872 | 4137 | MAPT | umls:C0236642 | BeFree | The objective of this clinical-pathologic study was to identify biomarkers for a pallidopontonigral degeneration (PPND) kindred of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) harboring the N279K tau mutation. | 0.431670586 | 2007 | MAPT | 17 | 46010324 | T | G |
| rs63750756 | 12492138 | 4137 | MAPT | umls:C0338451 | BeFree | Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17. | 0.461303288 | 2002 | MAPT | 17 | 46010324 | T | G |
| rs63750756 | 21681797 | 4137 | MAPT | umls:C0236642 | BeFree | Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a family of disorders collectively referred to as frontotemporal dementia and parkinsonism linked to chromosome 17. | 0.431670586 | 2011 | MAPT | 17 | 46010324 | T | G |
| rs63750756 | 12492138 | 4137 | MAPT | umls:C0236642 | BeFree | Autonomic function was investigated in five affected and five at-risk members of a single kinship of pallidopontonigral degeneration (PPND), which is a progressive syndrome of parkinsonism and frontotemporal dementia resulting from a mutation in the N279K tau gene on chromosome 17. | 0.431670586 | 2002 | MAPT | 17 | 46010324 | T | G |
| rs63750756 | 10995239 | 4137 | MAPT | umls:C0338451 | BeFree | We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). | 0.461303288 | 2000 | MAPT | 17 | 46010324 | T | G |
| rs63750756 | 17639429 | 120892 | LRRK2 | umls:C0338451 | BeFree | Here we show that Lrrk2 is closely associated with the tau-positive inclusions in eight members of a family with frontotemporal dementia of the pallido-ponto-nigral degeneration type linked to the chromosome 17 N279K tau mutation (N279K/FTDP-17/PPND). | 0.002909916 | 2007 | MAPT | 17 | 46010324 | T | G |
| rs63750756 | 21681797 | 4137 | MAPT | umls:C0338451 | BeFree | Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a family of disorders collectively referred to as frontotemporal dementia and parkinsonism linked to chromosome 17. | 0.461303288 | 2011 | MAPT | 17 | 46010324 | T | G |
| rs63750756 | 12056930 | 4137 | MAPT | umls:C0338451 | BeFree | Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family. | 0.461303288 | 2002 | MAPT | 17 | 46010324 | T | G |
| rs63750756 | NA | 4137 | MAPT | umls:C0338451 | CLINVAR | NA | 0.461303288 | NA | MAPT | 17 | 46010324 | T | G |
| rs63750756 | 10995239 | 4137 | MAPT | umls:C0236642 | BeFree | We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). | 0.431670586 | 2000 | MAPT | 17 | 46010324 | T | G |
| rs63750756 | 17196872 | 4137 | MAPT | umls:C0338451 | BeFree | The objective of this clinical-pathologic study was to identify biomarkers for a pallidopontonigral degeneration (PPND) kindred of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) harboring the N279K tau mutation. | 0.461303288 | 2007 | MAPT | 17 | 46010324 | T | G |
| rs63750756 | 17639429 | 120892 | LRRK2 | umls:C0236642 | BeFree | Here we show that Lrrk2 is closely associated with the tau-positive inclusions in eight members of a family with frontotemporal dementia of the pallido-ponto-nigral degeneration type linked to the chromosome 17 N279K tau mutation (N279K/FTDP-17/PPND). | 0.000542884 | 2007 | MAPT | 17 | 46010324 | T | G |
| rs63750756 | 17319286 | 4137 | MAPT | umls:C0338451 | BeFree | We present a case of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) harboring the N279K mutation in the MAPT gene from the family known as pallido-ponto-nigral degeneration (PPND). | 0.461303288 | 2007 | MAPT | 17 | 46010324 | T | G |
| rs63750869 | 21343707 | 4137 | MAPT | umls:C0236642 | BeFree | MAPT V363I variation in a sporadic case of frontotemporal dementia: variable penetrant mutation or rare polymorphism? | 0.431670586 | 2011 | MAPT | 17 | 46018707 | G | A |
| rs63750869 | 21343707 | 4137 | MAPT | umls:C0338451 | BeFree | MAPT V363I variation in a sporadic case of frontotemporal dementia: variable penetrant mutation or rare polymorphism? | 0.461303288 | 2011 | MAPT | 17 | 46018707 | G | A |
| rs63750905 | 15765246 | 4137 | MAPT | umls:C0236642 | BeFree | Novel G335V mutation in the tau gene associated with early onset familial frontotemporal dementia. | 0.431670586 | 2005 | MAPT | 17 | 46018624 | G | T |
| rs63750905 | 15765246 | 4137 | MAPT | umls:C0338451 | BeFree | Novel G335V mutation in the tau gene associated with early onset familial frontotemporal dementia. | 0.461303288 | 2005 | MAPT | 17 | 46018624 | G | T |
| rs63750912 | NA | 4137 | MAPT | umls:C0338451 | CLINVAR | NA | 0.461303288 | NA | MAPT | 17 | 46010375 | T | C |
| rs63750959 | 11921059 | 4137 | MAPT | umls:C0338451 | UNIPROT | Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. | 0.461303288 | 2002 | MAPT | 17 | 45962351 | G | A,T |
| rs63750959 | 11921059 | 4137 | MAPT | umls:C0236642 | BeFree | Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. | 0.431670586 | 2002 | MAPT | 17 | 45962351 | G | A,T |
| rs63750959 | NA | 4137 | MAPT | umls:C0338451 | CLINVAR | NA | 0.461303288 | NA | MAPT | 17 | 45962351 | G | A,T |
| rs63750959 | 11921059 | 4137 | MAPT | umls:C0338451 | BeFree | Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. | 0.461303288 | 2002 | MAPT | 17 | 45962351 | G | A,T |
| rs63750972 | NA | 4137 | MAPT | umls:C0338451 | CLINVAR | NA | 0.461303288 | NA | MAPT | 17 | 46010416 | C | T |
| rs63751068 | NA | 5663 | PSEN1 | umls:C0236642 | CLINVAR | NA | 0.247610304 | NA | PSEN1 | 14 | 73186920 | G | T |
| rs63751165 | 10208578 | 4137 | MAPT | umls:C0236642 | BeFree | We report a Japanese family with early onset hereditary frontotemporal dementia and a novel missense mutation (Ser305Asn) in the tau gene. | 0.431670586 | 1999 | MAPT | 17 | 46010401 | G | A |
| rs63751165 | NA | 4137 | MAPT | umls:C0338451 | CLINVAR | NA | 0.461303288 | NA | MAPT | 17 | 46010401 | G | A |
| rs63751165 | 10208578 | 4137 | MAPT | umls:C0338451 | BeFree | We report a Japanese family with early onset hereditary frontotemporal dementia and a novel missense mutation (Ser305Asn) in the tau gene. | 0.461303288 | 1999 | MAPT | 17 | 46010401 | G | A |
| rs63751264 | NA | 4137 | MAPT | umls:C0236642 | CLINVAR | NA | 0.431670586 | NA | MAPT | 17 | 46018726 | A | T |
| rs63751273 | 14757934 | 4137 | MAPT | umls:C0338451 | BeFree | Neuropathological and biochemical findings are reported in a patient who had suffered from frontotemporal dementia associated with a P310L mutation in the tau gene and included in the H1 haplotype. | 0.461303288 | 2003 | MAPT | 17 | 46010389 | C | T |
| rs63751273 | 16155344 | 4137 | MAPT | umls:C0338451 | BeFree | Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerization from gray matter obtained from patients with AD caused by PSEN2 N141I mutation or frontotemporal dementia with parkinsonism linked to chromosome-17 caused (FTDP-17) by TAU V337M or P301L mutation. | 0.461303288 | 2005 | MAPT | 17 | 46010389 | C | T |
| rs63751273 | 23885714 | 5663 | PSEN1 | umls:C0338451 | BeFree | Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16). | 0.369077134 | 2013 | MAPT | 17 | 46010389 | C | T |
| rs63751273 | 12111297 | 4137 | MAPT | umls:C0236642 | BeFree | Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17. | 0.431670586 | 2002 | MAPT | 17 | 46010389 | C | T |
| rs63751273 | 22561128 | 4137 | MAPT | umls:C0338451 | BeFree | The P301L mutation is causal for frontotemporal dementia with parkinsonism-17 (FTDP-17), but it has been used for studying memory effects characteristic of AD in transgenic mice. | 0.461303288 | 2012 | MAPT | 17 | 46010389 | C | T |
| rs63751273 | 12111297 | 4137 | MAPT | umls:C0338451 | BeFree | Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17. | 0.461303288 | 2002 | MAPT | 17 | 46010389 | C | T |
| rs63751273 | 23885714 | 4137 | MAPT | umls:C0338451 | BeFree | Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16). | 0.461303288 | 2013 | MAPT | 17 | 46010389 | C | T |
| rs63751273 | 17764851 | 4137 | MAPT | umls:C0338451 | BeFree | We also examined postural sway in mice expressing mutations that mimic frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17) (T-279, P301L or P301L-nitric oxide synthase 2 (NOS2)(-/-) mice) and that demonstrate motor symptoms. | 0.461303288 | 2007 | MAPT | 17 | 46010389 | C | T |
| rs63751273 | 10219785 | 4137 | MAPT | umls:C0236642 | BeFree | We investigated three separate families (designated D, F and G) with frontotemporal dementia that have the same molecular mutation in exon 10 of the tau gene (P301L). | 0.431670586 | 1999 | MAPT | 17 | 46010389 | C | T |
| rs63751273 | 10219785 | 4137 | MAPT | umls:C0338451 | BeFree | We investigated three separate families (designated D, F and G) with frontotemporal dementia that have the same molecular mutation in exon 10 of the tau gene (P301L). | 0.461303288 | 1999 | MAPT | 17 | 46010389 | C | T |
| rs63751273 | 16155344 | 5664 | PSEN2 | umls:C0338451 | BeFree | Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerization from gray matter obtained from patients with AD caused by PSEN2 N141I mutation or frontotemporal dementia with parkinsonism linked to chromosome-17 caused (FTDP-17) by TAU V337M or P301L mutation. | 0.003724241 | 2005 | MAPT | 17 | 46010389 | C | T |
| rs63751273 | NA | 4137 | MAPT | umls:C0338451 | CLINVAR | NA | 0.461303288 | NA | MAPT | 17 | 46010389 | C | T |
| rs63751273 | 23885714 | 5663 | PSEN1 | umls:C0236642 | BeFree | Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16). | 0.247610304 | 2013 | MAPT | 17 | 46010389 | C | T |
| rs63751273 | 17764851 | 4843 | NOS2 | umls:C0338451 | BeFree | We also examined postural sway in mice expressing mutations that mimic frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17) (T-279, P301L or P301L-nitric oxide synthase 2 (NOS2)(-/-) mice) and that demonstrate motor symptoms. | 0.000271442 | 2007 | MAPT | 17 | 46010389 | C | T |
| rs63751273 | 14757934 | 4137 | MAPT | umls:C0236642 | BeFree | Neuropathological and biochemical findings are reported in a patient who had suffered from frontotemporal dementia associated with a P310L mutation in the tau gene and included in the H1 haplotype. | 0.431670586 | 2003 | MAPT | 17 | 46010389 | C | T |
| rs63751273 | 17764851 | 339345 | NANOS2 | umls:C0338451 | BeFree | We also examined postural sway in mice expressing mutations that mimic frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17) (T-279, P301L or P301L-nitric oxide synthase 2 (NOS2)(-/-) mice) and that demonstrate motor symptoms. | 0.000271442 | 2007 | MAPT | 17 | 46010389 | C | T |
| rs63751273 | 15831501 | 4137 | MAPT | umls:C0338451 | BeFree | Significantly, the reduction in mitochondrial complex V levels in the P301L tau mice revealed using proteomics was also confirmed as decreased in human P301L FTDP-17 (frontotemporal dementia with parkinsonism linked to chromosome 17) brains. | 0.461303288 | 2005 | MAPT | 17 | 46010389 | C | T |
| rs63751273 | 10995239 | 4137 | MAPT | umls:C0236642 | BeFree | We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). | 0.431670586 | 2000 | MAPT | 17 | 46010389 | C | T |
| rs63751273 | 10995239 | 4137 | MAPT | umls:C0338451 | BeFree | We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). | 0.461303288 | 2000 | MAPT | 17 | 46010389 | C | T |
| rs63751399 | NA | 5663 | PSEN1 | umls:C0338451 | CLINVAR | NA | 0.369077134 | NA | PSEN1 | 14 | 73171047 | T | C |
| rs63751399 | 15122701 | 5663 | PSEN1 | umls:C0236642 | BeFree | Interestingly, two presenilin 1 (PS1) mutations (Leu113Pro and insArg352) recently have been associated with familial FTD albeit without neuropathological confirmation. | 0.247610304 | 2004 | PSEN1 | 14 | 73171047 | T | C |
| rs63751399 | 15122701 | 5663 | PSEN1 | umls:C0338451 | BeFree | Interestingly, two presenilin 1 (PS1) mutations (Leu113Pro and insArg352) recently have been associated with familial FTD albeit without neuropathological confirmation. | 0.369077134 | 2004 | PSEN1 | 14 | 73171047 | T | C |
| rs63751438 | NA | 4137 | MAPT | umls:C0338451 | CLINVAR | NA | 0.461303288 | NA | MAPT | 17 | 46010388 | C | T |
| rs63751438 | 21212632 | 4137 | MAPT | umls:C0338451 | BeFree | Recent findings, showing the presence of an inflammatory process in the brain of transgenic mice expressing P301S mutated human tau protein, indicate that neuroinflammation may contribute to tau-related degeneration in frontotemporal dementia and parkinsonism linked to chromosome 17 with tau mutations (FTDP-17T). | 0.461303288 | 2011 | MAPT | 17 | 46010388 | C | T |
| rs63751438 | 18490011 | 4137 | MAPT | umls:C0236642 | BeFree | Our strategy was to use the natural tau promoter for expressing the human-tau (htau) gene with two mutations K257T/P301S (double mutant, DM) associated with severe phenotypes of frontotemporal-dementia in humans. | 0.431670586 | 2008 | MAPT | 17 | 46010388 | C | T |
| rs63751438 | 21212632 | 4137 | MAPT | umls:C0236642 | BeFree | Recent findings, showing the presence of an inflammatory process in the brain of transgenic mice expressing P301S mutated human tau protein, indicate that neuroinflammation may contribute to tau-related degeneration in frontotemporal dementia and parkinsonism linked to chromosome 17 with tau mutations (FTDP-17T). | 0.431670586 | 2011 | MAPT | 17 | 46010388 | C | T |
| rs63751438 | 18490011 | 4137 | MAPT | umls:C0338451 | BeFree | Our strategy was to use the natural tau promoter for expressing the human-tau (htau) gene with two mutations K257T/P301S (double mutant, DM) associated with severe phenotypes of frontotemporal-dementia in humans. | 0.461303288 | 2008 | MAPT | 17 | 46010388 | C | T |
| rs63751438 | 17318302 | 4137 | MAPT | umls:C0338451 | BeFree | In 9 patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) with a P301S tau mutation, the predominant phenotype was frontotemporal dementia in 3 and parkinsonism in 6. | 0.461303288 | 2007 | MAPT | 17 | 46010388 | C | T |
| rs63751438 | 17318302 | 4137 | MAPT | umls:C0236642 | BeFree | In 9 patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) with a P301S tau mutation, the predominant phenotype was frontotemporal dementia in 3 and parkinsonism in 6. | 0.431670586 | 2007 | MAPT | 17 | 46010388 | C | T |
| rs74315452 | 22670877 | 6647 | SOD1 | umls:C0338451 | BeFree | Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation. | 0.006514605 | 2012 | SOD1 | 21 | 31667356 | T | C |
| rs74315452 | 22670877 | 6647 | SOD1 | umls:C0236642 | BeFree | Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation. | 0.004885954 | 2012 | SOD1 | 21 | 31667356 | T | C |
| rs75932628 | 23800361 | 54209 | TREM2 | umls:C0236642 | BeFree | TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease. | 0.003257302 | 2013 | TREM2;LOC105375056 | 6 | 41161514 | C | A,T |
| rs75932628 | 24041969 | 54209 | TREM2 | umls:C0236642 | BeFree | Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia. | 0.003257302 | 2013 | TREM2;LOC105375056 | 6 | 41161514 | C | A,T |
| rs75932628 | 25160042 | 54209 | TREM2 | umls:C0236642 | BeFree | R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia. | 0.003257302 | 2014 | TREM2;LOC105375056 | 6 | 41161514 | C | A,T |
| rs75932628 | 23800361 | 54209 | TREM2 | umls:C0338451 | BeFree | TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease. | 0.003257302 | 2013 | TREM2;LOC105375056 | 6 | 41161514 | C | A,T |
| rs75932628 | 25160042 | 54209 | TREM2 | umls:C0338451 | BeFree | R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia. | 0.003257302 | 2014 | TREM2;LOC105375056 | 6 | 41161514 | C | A,T |
| rs75932628 | 24041969 | 54209 | TREM2 | umls:C0338451 | BeFree | Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia. | 0.003257302 | 2013 | TREM2;LOC105375056 | 6 | 41161514 | C | A,T |
| rs794729669 | NA | 2896 | GRN | umls:C0338451 | CLINVAR | NA | 0.282117097 | NA | GRN | 17 | 44350341 | G | C |
| rs794729670 | NA | 2896 | GRN | umls:C0338451 | CLINVAR | NA | 0.282117097 | NA | GRN | 17 | 44351409 | T | G |
| rs794729671 | NA | 2896 | GRN | umls:C0338451 | CLINVAR | NA | 0.282117097 | NA | GRN | 17 | 44352081 | - | T |
| rs794729672 | NA | 2896 | GRN | umls:C0338451 | CLINVAR | NA | 0.282117097 | NA | GRN | 17 | 44349251 | - | C |
| rs80356718 | 23231971 | 23435 | TARDBP | umls:C0338451 | BeFree | The TDP-43 p.N267S substitution has been previously implicated in both amyotrophic lateral sclerosis and behavioral variant frontotemporal dementia. | 0.03474456 | 2013 | TARDBP | 1 | 11022209 | A | G |
| rs80356718 | 23231971 | 23435 | TARDBP | umls:C0236642 | BeFree | The TDP-43 p.N267S substitution has been previously implicated in both amyotrophic lateral sclerosis and behavioral variant frontotemporal dementia. | 0.018729489 | 2013 | TARDBP | 1 | 11022209 | A | G |
| rs80356726 | 23798570 | 23435 | TARDBP | umls:C0236642 | BeFree | Endogenous progesterone levels and frontotemporal dementia: modulation of TDP-43 and Tau levels in vitro and treatment of the A315T TARDBP mouse model. | 0.018729489 | 2014 | TARDBP | 1 | 11022352 | G | A |
| rs80356726 | 23798570 | 23435 | TARDBP | umls:C0338451 | BeFree | Endogenous progesterone levels and frontotemporal dementia: modulation of TDP-43 and Tau levels in vitro and treatment of the A315T TARDBP mouse model. | 0.03474456 | 2014 | TARDBP | 1 | 11022352 | G | A |
| rs937 | 12112206 | 4137 | MAPT | umls:C0338451 | BeFree | Furthermore, we analyzed some markers located in the common region of linkage (D17S800-D17S791), associated with some cases of familial frontotemporal dementia (FTDP-17), and the SNPs rs1816 and rs937 close to the tau gene, to determine their possible association with sporadic PSP. | 0.461303288 | 2002 | NA | NA | NA | NA | NA |
| rs9897526 | 21343707 | 2896 | GRN | umls:C0236642 | BeFree | The V363I variation was associated with frontotemporal dementia only in the proband which was also homozygous for the A allele of the progranulin single-nucleotide polymorphism rs9897526 and for methionine at codon 129 of the prion protein gene. | 0.026601303 | 2011 | GRN | 17 | 44349572 | G | A |
| rs9897526 | 21343707 | 2896 | GRN | umls:C0338451 | BeFree | The V363I variation was associated with frontotemporal dementia only in the proband which was also homozygous for the A allele of the progranulin single-nucleotide polymorphism rs9897526 and for methionine at codon 129 of the prion protein gene. | 0.282117097 | 2011 | GRN | 17 | 44349572 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:77) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 1 | 3591448 | rs12027041 | G | C | rs12027041 | 21087763 | 3.50E-09 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 1 | 65732242 | rs2477786 | C | T | rs2477786 | 21087763 | 2.10E-24 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 1 | 109818530 | rs646776 | C | T | rs646776 | 21087763 | 2.00E-30 | NA | 0.18 | [0.16-0.20] ng/ml decrease | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | rs646776-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 1 | 151372138 | rs7172 | G | A | rs7172 | 21087763 | 3.90E-22 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 1 | 224518354 | rs4653579 | T | C | rs4653579 | 21087763 | 5.30E-26 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 2 | 127860830 | rs754107 | C | G | rs754107 | 21087763 | 1.60E-09 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 3 | 13400275 | rs17038082 | G | A | rs17038082 | 21087763 | 2.30E-15 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 3 | 50224225 | rs12632110 | A | G | rs12632110 | 21087763 | 1.10E-09 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 3 | 125822003 | rs2003334 | C | T | rs2003334 | 21087763 | 4.80E-16 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 3 | 169782204 | rs6804193 | T | C | rs6804193 | 21087763 | 8.20E-09 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 4 | 3318413 | rs2236052 | A | G | rs2236052 | 21087763 | 4.50E-08 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 4 | 3533066 | rs1794429 | C | T | rs1794429 | 21087763 | 3.60E-24 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 4 | 7485775 | rs17828052 | C | T | rs17828052 | 21087763 | 8.60E-16 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 5 | 70927686 | rs277979 | C | A,G,T | rs277979 | 21087763 | 4.90E-14 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 5 | 149915676 | rs2545342 | C | G | rs2545342 | 21087763 | 2.50E-08 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 5 | 172360034 | rs2339745 | G | A | rs2339745 | 21087763 | 7.90E-16 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 5 | 175224905 | rs2434237 | C | A | rs2434237 | 21087763 | 2.50E-17 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 6 | 26458265 | rs6929846 | T | C | rs6929846 | 21087763 | 1.30E-23 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 6 | 32363215 | rs1980493 | T | C | rs1980493 | 24943344 | 1.57E-08 | (All Frontotemporal dementia) | 1.29 | [1.16-1.45] | 1,377 European ancestry behavioural variant cases; 308 European ancestry Semantic dementia cases; 269 European ancestry Progressive nonfluent aphasia cases; 200 European ancestry Frontotremporal dementia with motor neuron disease cases; up to 4,308 European ancestry controls | European(6462) | ALL(6462) | EUR(6462) | ALL(6462) | Frontotemporal dementia | HPOID:0000726 | Dementia | DOID:9255 | frontotemporal dementia | NA | NA | NA | NA | Brain disease | Alzheimer's disease | rs1980493-T | Multicenter Study | Research Support, N.I.H., Extramural |
| 6 | 32429719 | rs9268856 | C | A | rs9268856 | 24943344 | 5.51E-09 | (All Frontotemporal dementia) | 1.24 | [1.16-1.32] | 1,377 European ancestry behavioural variant cases; 308 European ancestry Semantic dementia cases; 269 European ancestry Progressive nonfluent aphasia cases; 200 European ancestry Frontotremporal dementia with motor neuron disease cases; up to 4,308 European ancestry controls | European(6462) | ALL(6462) | EUR(6462) | ALL(6462) | Frontotemporal dementia | HPOID:0000726 | Dementia | DOID:9255 | frontotemporal dementia | NA | NA | NA | NA | Brain disease | Alzheimer's disease | rs9268856-C | Multicenter Study | Research Support, N.I.H., Extramural |
| 6 | 32429719 | rs9268856 | C | A | rs9268856 | 24943344 | 6.00E-09 | (All Frontotemporal dementia) | 1.24 | [1.16-1.32] | 1,377 European ancestry behavioural variant cases; 308 European ancestry Semantic dementia cases; 269 European ancestry Progressive nonfluent aphasia cases; 200 European ancestry Frontotremporal dementia with motor neuron disease cases; up to 4,308 European ancestry controls | European(6462) | ALL(6462) | EUR(6462) | ALL(6462) | Frontotemporal dementia | HPOID:0000726 | Dementia | DOID:9255 | frontotemporal dementia | NA | NA | NA | NA | Brain disease | Alzheimer's disease | rs9268856-C | Multicenter Study | Research Support, N.I.H., Extramural |
| 6 | 32431147 | rs9268877 | A | G | rs9268877 | 24943344 | 1.05E-08 | (All Frontotemporal dementia) | 1.2 | [1.11-1.30] | 1,377 European ancestry behavioural variant cases; 308 European ancestry Semantic dementia cases; 269 European ancestry Progressive nonfluent aphasia cases; 200 European ancestry Frontotremporal dementia with motor neuron disease cases; up to 4,308 European ancestry controls | European(6462) | ALL(6462) | EUR(6462) | ALL(6462) | Frontotemporal dementia | HPOID:0000726 | Dementia | DOID:9255 | frontotemporal dementia | NA | NA | NA | NA | Brain disease | Alzheimer's disease | rs9268877-A | Multicenter Study | Research Support, N.I.H., Extramural |
| 6 | 43168117 | rs9462875 | A | G | rs9462875 | 21087763 | 1.20E-21 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 7 | 6065804 | rs10263017 | G | C | rs10263017 | 21087763 | 1.30E-13 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 7 | 55542890 | rs10281500 | C | G | rs10281500 | 21087763 | 3.20E-21 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 7 | 128580680 | rs3807306 | G | T | rs3807306 | 21087763 | 2.00E-14 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 7 | 157438037 | rs1638021 | T | C | rs1638021 | 21087763 | 1.10E-13 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 8 | 140812347 | rs12679196 | C | T | rs12679196 | 21087763 | 3.10E-16 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 8 | 144599178 | rs7464822 | G | A | rs7464822 | 21087763 | 1.70E-25 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 9 | 96063690 | rs16936752 | T | G | rs16936752 | 21087763 | 1.40E-11 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 9 | 128222340 | rs10986769 | A | G | rs10986769 | 21087763 | 2.80E-10 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 9 | 139924637 | rs13301354 | T | C | rs13301354 | 21087763 | 4.10E-15 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 10 | 3183747 | rs7094698 | A | G | rs7094698 | 21087763 | 4.90E-09 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 10 | 17244048 | rs17381591 | T | C | rs17381591 | 21087763 | 2.90E-20 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 10 | 44869427 | rs266089 | A | G | rs266089 | 21087763 | 5.20E-18 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 10 | 71662783 | rs942576 | G | T | rs942576 | 21087763 | 8.40E-14 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 10 | 101946445 | rs1324694 | C | T | rs1324694 | 21087763 | 2.80E-22 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 11 | 45947464 | rs10838532 | G | C | rs10838532 | 21087763 | 2.10E-18 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 11 | 87876911 | rs302668 | T | C | rs302668 | 24943344 | 2.00E-07 | (Behavioural variant FTD) | 1.23 | [1.09-1.41] | 1,377 European ancestry behavioural variant cases; 308 European ancestry Semantic dementia cases; 269 European ancestry Progressive nonfluent aphasia cases; 200 European ancestry Frontotremporal dementia with motor neuron disease cases; up to 4,308 European ancestry controls | European(6462) | ALL(6462) | EUR(6462) | ALL(6462) | Frontotemporal dementia | HPOID:0000726 | Dementia | DOID:9255 | frontotemporal dementia | NA | NA | NA | NA | Brain disease | Alzheimer's disease | rs302668-T | Multicenter Study | Research Support, N.I.H., Extramural |
| 11 | 87934068 | rs16913634 | G | A | rs16913634 | 24943344 | 8.15E-04 | (Behavioural variant FTD) | 1.25 | [1.14-1.37] | 1,377 European ancestry behavioural variant cases; 308 European ancestry Semantic dementia cases; 269 European ancestry Progressive nonfluent aphasia cases; 200 European ancestry Frontotremporal dementia with motor neuron disease cases; up to 4,308 European ancestry controls | European(6462) | ALL(6462) | EUR(6462) | ALL(6462) | Frontotemporal dementia | HPOID:0000726 | Dementia | DOID:9255 | frontotemporal dementia | NA | NA | NA | NA | Brain disease | Alzheimer's disease | rs16913634-A | Multicenter Study | Research Support, N.I.H., Extramural |
| 12 | 3333578 | rs2011973 | C | T | rs2011973 | 21087763 | 1.40E-16 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 12 | 69980141 | rs484319 | G | C | rs484319 | 21087763 | 7.40E-21 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 12 | 124854903 | rs3782257 | G | A | rs3782257 | 21087763 | 9.30E-21 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 13 | 96672110 | rs541811 | G | C | rs541811 | 21087763 | 8.40E-08 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 13 | 110960943 | rs3809346 | G | A | rs3809346 | 21087763 | 1.00E-16 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 14 | 23623827 | rs1998055 | G | C | rs1998055 | 21087763 | 9.70E-11 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 14 | 51083594 | rs4901043 | T | C | rs4901043 | 21087763 | 8.50E-08 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 14 | 59900020 | rs2774052 | A | G | rs2774052 | 21087763 | 4.80E-17 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 14 | 74969167 | rs2286412 | C | T | rs2286412 | 21087763 | 6.00E-18 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 14 | 93412743 | rs2295394 | G | A | rs2295394 | 21087763 | 1.50E-15 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 15 | 40710723 | rs2075624 | G | A | rs2075624 | 21087763 | 4.60E-17 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 15 | 42160943 | rs4923918 | G | A | rs4923918 | 21087763 | 3.80E-13 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 15 | 74291023 | rs3784562 | G | A | rs3784562 | 21087763 | 4.50E-13 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 15 | 78832792 | rs3813571 | G | T | rs3813571 | 21087763 | 7.20E-30 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 16 | 630902 | rs1045274 | C | G | rs1045274 | 21087763 | 3.00E-26 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 16 | 11097479 | rs9925481 | C | T | rs9925481 | 21087763 | 4.10E-14 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 16 | 16094601 | rs9635480 | A | G | rs9635480 | 21087763 | 2.90E-12 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 16 | 83989936 | rs824400 | C | G | rs824400 | 21087763 | 2.00E-18 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 16 | 85813880 | rs301164 | T | C | rs301164 | 21087763 | 1.10E-14 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 16 | 87638855 | rs2562059 | C | G | rs2562059 | 21087763 | 4.40E-22 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 16 | 89972345 | rs2270461 | T | C | rs2270461 | 21087763 | 2.50E-18 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 17 | 60778932 | rs2251393 | G | A | rs2251393 | 21087763 | 1.20E-14 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 17 | 75350872 | rs367539 | C | T | rs367539 | 21087763 | 5.70E-08 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 18 | 21425936 | rs12373237 | G | A | rs12373237 | 21087763 | 4.30E-12 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 19 | 4929473 | rs2123731 | A | G | rs2123731 | 21087763 | 7.50E-17 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 19 | 10790162 | rs2569512 | T | C | rs2569512 | 21087763 | 5.40E-14 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 19 | 41012190 | rs7258094 | C | T | rs7258094 | 21087763 | 2.80E-16 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 19 | 46267453 | rs16980013 | G | T | rs16980013 | 21087763 | 3.50E-12 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 20 | 23807028 | rs4407312 | A | C | rs4407312 | 21087763 | 5.00E-18 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 20 | 25012155 | rs6138473 | C | T | rs6138473 | 21087763 | 5.30E-15 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 20 | 60584072 | rs2296086 | T | G | rs2296086 | 21087763 | 1.30E-16 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 20 | 61530724 | rs6011456 | T | G | rs6011456 | 21087763 | 2.00E-16 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 21 | 43786371 | rs13051704 | G | C | rs13051704 | 21087763 | 1.00E-14 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 22 | 19978558 | rs2073746 | T | C | rs2073746 | 21087763 | 6.20E-15 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 22 | 21349579 | rs178293 | C | T | rs178293 | 21087763 | 1.10E-16 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 22 | 31533225 | rs5753472 | G | A | rs5753472 | 21087763 | 1.30E-29 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 22 | 50899310 | rs2236030 | G | A | rs2236030 | 21087763 | 6.90E-16 | NA | NA | NA | 533 non-Hispanic white controls | non-Hispanic white(533) | ALL(533) | OTHER(533) | ALL(533) | Progranulin levels | HPOID:0011018 | Abnormality of the cell cycle | DOID:9255 | frontotemporal dementia | NA | NA | EFOID:0004625 | progranulin measurement | Brain disease | Alzheimer's disease | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 187 |
|---|---|
| Disease | pick disease |
| Case | (Waiting for update.) |