RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Parkinsonism |
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Accession: | DOID:0080855
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browse the term
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Definition: | A movement disorder that is characterized by disturbances of balance, gait and posture. (DO) |
Synonyms: | exact_synonym: | Autosomal Dominant Juvenile Parkinsonism; Autosomal Dominant Parkinsonism; Autosomal Recessive Juvenile Parkinson Disease; Autosomal Recessive Parkinsonism; Autosomal Recesssive Juvenile Parkinsonism; Chromosome 6 Linked Autosomal Recessive Parkinsonism; EPDF; Experimental Parkinson Disease; Experimental Parkinsonism; Familial Juvenile Parkinsonism; Familial Parkinson Disease, Autosomal Recessive; Juvenile Parkinson Disease; Juvenile Parkinsonism; Juvenile Parkinsonism, Autosomal Recessive; MPTP Induced Experimental Parkinsonism; PDJ; Parkinsonian Disorders; Parkinsonian Syndrome; Parkinsonian disorder; Ramsay Hunt paralysis syndrome; autosomal dominant juvenile Parkinson disease; experimental Parkinson diseases; parkinsonian diseases; parkinsonian syndromes |
| primary_id: | MESH:D020734 |
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ABAT |
4-aminobutyrate aminotransferase |
treatment |
ISO |
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RGD |
PMID:22634324 |
RGD:9588554 |
NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
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ABCC8 |
ATP binding cassette subfamily C member 8 |
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ISO |
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RGD |
PMID:15857625 |
RGD:1598645 |
NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
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ABCC9 |
ATP binding cassette subfamily C member 9 |
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ISO |
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RGD |
PMID:15857625 |
RGD:1598645 |
NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
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ADCYAP1 |
adenylate cyclase activating polypeptide 1 |
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ISO |
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RGD |
PMID:16888218 |
RGD:2325295 |
NCBI chr18:904,411...912,172
Ensembl chr18:904,871...912,172
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ALDH1A1 |
aldehyde dehydrogenase 1 family member A1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25045800 |
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NCBI chr 9:72,900,671...72,953,053
Ensembl chr 9:72,900,671...73,080,442
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ALDH1A2 |
aldehyde dehydrogenase 1 family member A2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25045800 |
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NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866
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ANG |
angiogenin |
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ISO |
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RGD |
PMID:21091473 |
RGD:6892711 |
NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
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APAF1 |
apoptotic peptidase activating factor 1 |
treatment |
ISO |
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RGD |
PMID:11535810 |
RGD:13503334 |
NCBI chr12:98,645,290...98,735,433
Ensembl chr12:98,645,290...98,735,433
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AQP4 |
aquaporin 4 |
severity |
ISO |
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RGD |
PMID:21255222 |
RGD:5148006 |
NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
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ATP13A2 |
ATPase cation transporting 13A2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23046578 |
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NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
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ATP1A3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15260953 |
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NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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BAD |
BCL2 associated agonist of cell death |
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ISO |
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RGD |
PMID:23251488 |
RGD:10053712 |
NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
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BDNF |
brain derived neurotrophic factor |
treatment |
IDA |
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RGD |
PMID:16018990 |
RGD:8657066 |
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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BECN1 |
beclin 1 |
treatment |
ISO |
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RGD |
PMID:19864570 PMID:25424835 |
RGD:6483312, RGD:11558014 |
NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
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CASP3 |
caspase 3 |
treatment |
ISO |
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RGD |
PMID:28881616 PMID:27016191 PMID:28338241 |
RGD:13503337, RGD:13503339, RGD:13503338 |
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
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CASP9 |
caspase 9 |
treatment |
ISO |
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RGD |
PMID:26612350 |
RGD:13503344 |
NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
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CCL4 |
C-C motif chemokine ligand 4 |
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ISO |
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RGD |
PMID:17258864 |
RGD:5683893 |
NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
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CNR1 |
cannabinoid receptor 1 |
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ISO |
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RGD |
PMID:19414037 |
RGD:2314672 |
NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347
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COMT |
catechol-O-methyltransferase |
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ISO |
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RGD |
PMID:15698633 |
RGD:2289785 |
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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CSF1R |
colony stimulating factor 1 receptor |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism |
ClinVar |
PMID:25741868 |
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NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
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CSF2 |
colony stimulating factor 2 |
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ISO |
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RGD |
PMID:21291297 |
RGD:5131508 |
NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
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CX3CL1 |
C-X3-C motif chemokine ligand 1 |
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ISO |
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RGD |
PMID:19368990 |
RGD:4891964 |
NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
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CX3CR1 |
C-X3-C motif chemokine receptor 1 |
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ISO |
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RGD |
PMID:19368990 |
RGD:4891964 |
NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
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CYP1A1 |
cytochrome P450 family 1 subfamily A member 1 |
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ISO |
mRNA:decreased expression:striatum |
RGD |
PMID:18374908 |
RGD:5147675 |
NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
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DCTN1 |
dynactin subunit 1 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parkinsonism |
CTD ClinVar |
PMID:19136952 PMID:25741868 PMID:28492532 PMID:28518168 PMID:29525180 PMID:32461654 More...
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NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087
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DDC |
dopa decarboxylase |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16269145 |
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NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405
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DRD2 |
dopamine receptor D2 |
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ISO EXP |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:9171869 PMID:12476322 PMID:15469457 PMID:22126770 |
RGD:6907448 |
NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
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DRD3 |
dopamine receptor D3 |
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ISO |
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RGD |
PMID:12535962 |
RGD:1358605 |
NCBI chr 3:114,127,580...114,199,407
Ensembl chr 3:114,127,580...114,199,407
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EGFR |
epidermal growth factor receptor |
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ISO |
protein:decreased expression:striatum |
RGD |
PMID:15857400 |
RGD:2289955 |
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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EN1 |
engrailed homeobox 1 |
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ISO |
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RGD |
PMID:17015829 |
RGD:5687199 |
NCBI chr 2:118,842,171...118,847,648
Ensembl chr 2:118,842,171...118,847,648
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EN2 |
engrailed homeobox 2 |
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ISO |
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RGD |
PMID:17015829 |
RGD:5687199 |
NCBI chr 7:155,458,129...155,464,831
Ensembl chr 7:155,458,129...155,464,831
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ENO2 |
enolase 2 |
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ISO |
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RGD |
PMID:17532790 |
RGD:2293747 |
NCBI chr12:6,914,580...6,923,697
Ensembl chr12:6,913,745...6,923,698
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ESR1 |
estrogen receptor 1 |
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ISO |
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RGD |
PMID:21420980 |
RGD:8553241 |
NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
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FGF2 |
fibroblast growth factor 2 |
treatment |
IDA |
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RGD |
PMID:27228974 |
RGD:13801017 |
NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
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FKBP1A |
FKBP prolyl isomerase 1A |
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ISO |
mRNA, protein:increased expression:brain |
RGD |
PMID:17877381 |
RGD:2302074 |
NCBI chr20:1,368,978...1,393,054
Ensembl chr20:1,368,977...1,393,164
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GAPDH |
glyceraldehyde-3-phosphate dehydrogenase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29886133 |
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NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374
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GBA1 |
glucosylceramidase beta 1 |
severity |
IAGP EXP |
DNA:missense mutations:cds:multiple (human) ClinVar Annotator: match by term: Parkinsonism CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1864608 PMID:1899336 PMID:1972019 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2569551 PMID:2880291 PMID:7981693 PMID:8160756 PMID:8294487 PMID:8929950 PMID:9375849 PMID:10079102 PMID:10649495 PMID:10714667 PMID:10796875 PMID:11336129 PMID:11903352 PMID:12595585 PMID:12791040 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15967693 PMID:16293621 PMID:16967369 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18160183 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18541817 PMID:18987351 PMID:19286695 PMID:20004703 PMID:20301446 PMID:20816920 PMID:20947659 PMID:21106416 PMID:21228398 PMID:21472771 PMID:21700212 PMID:21700325 PMID:21742527 PMID:21745757 PMID:21831682 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22227325 PMID:22451204 PMID:22623374 PMID:22713811 PMID:22820396 PMID:22975760 PMID:23035075 PMID:23225227 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24522292 PMID:25249066 PMID:25333069 PMID:25535748 PMID:25741868 PMID:25881142 PMID:26000814 PMID:26096741 PMID:26117366 PMID:26296077 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27312774 PMID:27717005 PMID:27865684 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28894968 PMID:28947706 PMID:28969384 PMID:29029963 PMID:29471591 PMID:29487000 PMID:29602947 PMID:29625627 PMID:29934114 PMID:29980418 PMID:30146349 PMID:30285649 PMID:30302829 PMID:30456712 PMID:30548430 PMID:30606667 PMID:30662625 PMID:30941926 PMID:31010158 PMID:31130284 PMID:31216804 PMID:31561936 PMID:32014045 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 PMID:20838799 More...
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RGD:5508426 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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GCH1 |
GTP cyclohydrolase 1 |
treatment |
ISO IMP |
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RGD |
PMID:25592335 PMID:15684695 PMID:12451130 PMID:16708545 PMID:23831692 |
RGD:329970292, RGD:1580026, RGD:628489, RGD:401700385, RGD:401700381 |
NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
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GDNF |
glial cell derived neurotrophic factor |
treatment |
ISO EXP IDA |
protein:decreased expression:brain CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:9266731 PMID:12213621 PMID:22186119 PMID:16018990 PMID:21865882 |
RGD:5686884, RGD:8657066, RGD:6218962 |
NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041
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GFRA1 |
GDNF family receptor alpha 1 |
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ISO |
mRNA:altered expression:brain |
RGD |
PMID:21865882 PMID:12210101 |
RGD:6218962, RGD:6218972 |
NCBI chr10:116,056,925...116,274,705
Ensembl chr10:116,056,925...116,276,803
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GFRA2 |
GDNF family receptor alpha 2 |
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ISO |
mRNA:decreased expression:brain |
RGD |
PMID:12210101 |
RGD:6218972 |
NCBI chr 8:21,690,398...21,812,345
Ensembl chr 8:21,690,398...21,812,357
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GJA1 |
gap junction protein alpha 1 |
treatment |
ISO |
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RGD |
PMID:23783886 |
RGD:8662444 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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GNAL |
G protein subunit alpha L |
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ISO |
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RGD |
PMID:22539851 |
RGD:13513924 |
NCBI chr18:11,689,264...11,885,685
Ensembl chr18:11,689,264...11,885,685
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GRM8 |
glutamate metabotropic receptor 8 |
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ISO |
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RGD |
PMID:22546615 |
RGD:6771180 |
NCBI chr 7:126,438,598...127,252,941
Ensembl chr 7:126,438,598...127,253,093
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GRN |
granulin precursor |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism |
ClinVar |
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NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
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GSK3A |
glycogen synthase kinase 3 alpha |
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ISO |
protein:decreased expression:striatum |
RGD |
PMID:18805403 |
RGD:10401814 |
NCBI chr19:42,230,190...42,242,602
Ensembl chr19:42,226,225...42,242,625
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GSR |
glutathione-disulfide reductase |
treatment |
ISO EXP |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:22721943 PMID:20951685 |
RGD:5128840 |
NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
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HMOX1 |
heme oxygenase 1 |
treatment |
ISO |
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RGD |
PMID:24169105 |
RGD:10755712 |
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HSPA1A |
heat shock protein family A (Hsp70) member 1A |
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IMP |
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RGD |
PMID:15585408 |
RGD:5147599 |
NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946
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HSPA9 |
heat shock protein family A (Hsp70) member 9 |
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ISO |
protein:decreased expression:striatum |
RGD |
PMID:21542017 |
RGD:6784518 |
NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
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HTRA2 |
HtrA serine peptidase 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26558463 |
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NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350
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IL1B |
interleukin 1 beta |
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ISO |
protein:increased expression:hypothalamus |
RGD |
PMID:17520785 |
RGD:1626658 |
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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G |
KCNJ11 |
potassium inwardly rectifying channel subfamily J member 11 |
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ISO |
mRNA, protein:increased expression:prefrontal cortex, striatum, hippocampus (rat) |
RGD |
PMID:15857625 |
RGD:1598645 |
NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331
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G |
KCNJ8 |
potassium inwardly rectifying channel subfamily J member 8 |
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ISO |
mRNA, protein:increased expression:striatum, hippocampus (rat) |
RGD |
PMID:15857625 |
RGD:1598645 |
NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600
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LOC106627981 |
GBA recombination region |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism |
ClinVar |
PMID:1864608 PMID:1899336 PMID:1972019 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2569551 PMID:2880291 PMID:7981693 PMID:8160756 PMID:8294487 PMID:8929950 PMID:9375849 PMID:10079102 PMID:10649495 PMID:10714667 PMID:10796875 PMID:11336129 PMID:11903352 PMID:12595585 PMID:12791040 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15967693 PMID:16293621 PMID:16967369 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18160183 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18541817 PMID:18987351 PMID:19286695 PMID:20004703 PMID:20301446 PMID:20816920 PMID:20947659 PMID:21106416 PMID:21228398 PMID:21472771 PMID:21700212 PMID:21700325 PMID:21742527 PMID:21745757 PMID:21831682 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22227325 PMID:22451204 PMID:22623374 PMID:22713811 PMID:22820396 PMID:22975760 PMID:23035075 PMID:23225227 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24522292 PMID:25249066 PMID:25333069 PMID:25535748 PMID:25741868 PMID:26000814 PMID:26096741 PMID:26117366 PMID:26296077 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27312774 PMID:27717005 PMID:27865684 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28894968 PMID:28947706 PMID:28969384 PMID:29029963 PMID:29471591 PMID:29487000 PMID:29602947 PMID:29625627 PMID:29934114 PMID:29980418 PMID:30146349 PMID:30285649 PMID:30302829 PMID:30456712 PMID:30548430 PMID:30606667 PMID:30662625 PMID:30941926 PMID:31010158 PMID:31130284 PMID:31216804 PMID:31561936 PMID:32014045 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 More...
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NCBI chr 1:155,233,639...155,240,092
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G |
LOC111188154 |
RORalpha allelically-responsive CSF1R enhancer |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism |
ClinVar |
PMID:25741868 |
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NCBI chr 5:150,077,995...150,078,215
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G |
LOC129933272 |
ATAC-STARR-seq lymphoblastoid active region 15435 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism |
ClinVar |
PMID:27134041 PMID:27753167 |
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G |
LRRK2 |
leucine rich repeat kinase 2 |
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IMP EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23046578 PMID:25017139 PMID:26558463 PMID:20729864 |
RGD:5508414 |
NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285
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G |
LYN |
LYN proto-oncogene, Src family tyrosine kinase |
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ISO |
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RGD |
PMID:16529858 |
RGD:1581410 |
NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169
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G |
MANF |
mesencephalic astrocyte derived neurotrophic factor |
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IMP |
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RGD |
PMID:19641128 |
RGD:2325813 |
NCBI chr 3:51,385,291...51,389,397
Ensembl chr 3:51,385,291...51,389,397
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G |
MAPT |
microtubule associated protein tau |
treatment |
EXP IAGP ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parkinsonism |
CTD ClinVar RGD |
PMID:10802785 PMID:19458322 PMID:27228974 |
RGD:13801017 |
NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
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G |
MMP3 |
matrix metallopeptidase 3 |
treatment |
ISO |
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RGD |
PMID:22498097 |
RGD:8693688 |
NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
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G |
MMP9 |
matrix metallopeptidase 9 |
treatment |
ISO |
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RGD |
PMID:15075439 |
RGD:13204850 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
mRNA:decreased expression:thalamus |
RGD |
PMID:17148469 |
RGD:2302296 |
NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
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G |
MTOR |
mechanistic target of rapamycin kinase |
treatment |
ISO |
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RGD |
PMID:20089925 |
RGD:10040992 |
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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G |
NDUFS3 |
NADH:ubiquinone oxidoreductase core subunit S3 |
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ISO |
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RGD |
PMID:20403401 |
RGD:13824972 |
NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,562
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G |
NFKB2 |
nuclear factor kappa B subunit 2 |
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ISO |
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RGD |
PMID:18534259 |
RGD:2302392 |
NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
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G |
NGF |
nerve growth factor |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19694610 |
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NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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G |
NOS1 |
nitric oxide synthase 1 |
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ISO |
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RGD |
PMID:23967645 |
RGD:7257596 |
NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
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G |
NR4A2 |
nuclear receptor subfamily 4 group A member 2 |
treatment |
ISO |
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RGD |
PMID:31408200 |
RGD:124713575 |
NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348
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G |
PACRG |
parkin coregulated |
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IAGP |
ClinVar Annotator: match by term: Parkinson Disease, Juvenile |
ClinVar |
|
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NCBI chr 6:162,727,132...163,315,500
Ensembl chr 6:162,727,132...163,315,500
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G |
PARK7 |
Parkinsonism associated deglycase |
treatment |
IMP IAGP EXP ISO |
ClinVar Annotator: match by term: Parkinson Disease, Juvenile CTD Direct Evidence: marker/mechanism protein:decreased expression:brain |
ClinVar CTD RGD |
PMID:23046578 PMID:26558463 PMID:16860563 PMID:22710069 PMID:18373560 PMID:24969022 PMID:22041943 More...
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RGD:1601076, RGD:13463458, RGD:13463452, RGD:13210569, RGD:13462067 |
NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505
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G |
PARP1 |
poly(ADP-ribose) polymerase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17640816 |
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NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
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G |
PDE1B |
phosphodiesterase 1B |
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ISO |
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RGD |
PMID:15305867 |
RGD:2312524 |
NCBI chr12:54,549,601...54,579,239
Ensembl chr12:54,549,601...54,579,239
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G |
PDGFRB |
platelet derived growth factor receptor beta |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism |
ClinVar |
PMID:25741868 |
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NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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G |
PDYN |
prodynorphin |
disease_progression |
EXP ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:striatum |
CTD RGD |
PMID:9930741 PMID:26113400 |
RGD:401851054 |
NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285
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G |
PINK1 |
PTEN induced kinase 1 |
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ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11254447 PMID:15349871 PMID:23046578 PMID:24441527 PMID:24792327 PMID:26558463 PMID:24969022 More...
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RGD:13210569 |
NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511
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G |
PNOC |
prepronociceptin |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26687234 |
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NCBI chr 8:28,316,988...28,343,351
Ensembl chr 8:28,316,986...28,343,355
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G |
POLG |
DNA polymerase gamma, catalytic subunit |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17923349 |
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NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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G |
PPARGC1A |
PPARG coactivator 1 alpha |
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ISO |
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RGD |
PMID:22246294 PMID:21376232 PMID:22040668 |
RGD:6484262, RGD:6484271, RGD:6484267 |
NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
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G |
PRKCD |
protein kinase C delta |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15681813 |
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NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
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G |
PRKN |
parkin RBR E3 ubiquitin protein ligase |
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IAGP EXP |
ClinVar Annotator: match by term: Parkinson Disease, Juvenile ClinVar Annotator: match by term: Juvenile parkinsonism CTD Direct Evidence: marker/mechanism|therapeutic |
ClinVar CTD |
PMID:10072423 PMID:10894217 PMID:11254447 PMID:12629236 PMID:12764050 PMID:12764051 PMID:16227559 PMID:16367892 PMID:16476817 PMID:16914382 PMID:18211709 PMID:18519021 PMID:18973255 PMID:19205068 PMID:19636047 PMID:23046578 PMID:23275044 PMID:24167364 PMID:25640678 PMID:25741868 PMID:25877876 PMID:26274610 PMID:26467025 PMID:26556299 PMID:26558463 PMID:28492532 PMID:30200940 PMID:30994895 PMID:31409571 PMID:32870915 PMID:33045815 PMID:34426522 More...
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NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
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G |
PRKRA |
protein activator of interferon induced protein kinase EIF2AK2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18243799 |
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NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512
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G |
PRL |
prolactin |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:240179 |
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NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826
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G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
mRNA, protein:increased expression:neostriatum |
RGD |
PMID:21376018 PMID:16781689 PMID:15306248 |
RGD:5508224, RGD:5688269, RGD:5688225 |
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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G |
PTRHD1 |
peptidyl-tRNA hydrolase domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism |
ClinVar |
PMID:27134041 PMID:27753167 |
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NCBI chr 2:24,789,728...24,793,391
Ensembl chr 2:24,789,728...24,793,391
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G |
RANBP2 |
RAN binding protein 2 |
severity |
ISO |
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RGD |
PMID:22821000 |
RGD:9835348 |
NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810
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G |
RELA |
RELA proto-oncogene, NF-kB subunit |
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ISO |
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RGD |
PMID:18534259 |
RGD:2302392 |
NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
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G |
RET |
ret proto-oncogene |
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ISO |
mRNA:altered expression:brain |
RGD |
PMID:12210101 |
RGD:6218972 |
NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
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G |
RGS4 |
regulator of G protein signaling 4 |
treatment |
ISO |
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RGD |
PMID:25844489 |
RGD:13524517 |
NCBI chr 1:163,068,871...163,076,802
Ensembl chr 1:163,068,775...163,076,802
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G |
RGS9 |
regulator of G protein signaling 9 |
treatment |
ISO |
protein:decreased expression:striatum |
RGD |
PMID:20561938 PMID:18160641 PMID:21963945 |
RGD:13524532, RGD:13524864, RGD:13524862 |
NCBI chr17:65,137,370...65,227,703
Ensembl chr17:65,100,812...65,227,703
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G |
SHH |
sonic hedgehog signaling molecule |
treatment |
ISO |
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RGD |
PMID:25030123 |
RGD:12859032 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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G |
SLC11A2 |
solute carrier family 11 member 2 |
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ISO |
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RGD |
PMID:19011085 PMID:20125122 PMID:19011085 |
RGD:5688713, RGD:5688715, RGD:5688713 |
NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
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G |
SLC17A8 |
solute carrier family 17 member 8 |
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ISO |
protein:increased expression:substantia nigra pars reticulata, neuron, perikaryon |
RGD |
PMID:17435391 |
RGD:9999153 |
NCBI chr12:100,357,074...100,422,055
Ensembl chr12:100,357,074...100,422,055
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G |
SLC18A2 |
solute carrier family 18 member A2 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16269145 |
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NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430
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G |
SLC30A10 |
solute carrier family 30 member 10 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26220508 |
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NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018
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G |
SLC6A3 |
solute carrier family 6 member 3 |
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ISO |
protein:decreased expression:striatum |
RGD |
PMID:15680936 |
RGD:1625663 |
NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440
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G |
SLC6A4 |
solute carrier family 6 member 4 |
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ISO |
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RGD |
PMID:20447560 |
RGD:4889474 |
NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002
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G |
SNCA |
synuclein alpha |
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ISO EXP |
mRNA:decreased expression:brain CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20464527 PMID:22319455 PMID:23046578 PMID:23295396 PMID:26075822 PMID:26558463 PMID:26687234 PMID:27026137 PMID:27324791 PMID:15499605 PMID:15147505 More...
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RGD:6478799, RGD:6478802 |
NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
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G |
SNCG |
synuclein gamma |
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ISO |
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RGD |
PMID:15147505 |
RGD:6478802 |
NCBI chr10:86,955,759...86,963,258
Ensembl chr10:86,958,599...86,963,258
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G |
SRC |
SRC proto-oncogene, non-receptor tyrosine kinase |
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ISO |
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RGD |
PMID:16529858 |
RGD:1581410 |
NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050
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G |
TBC1D24 |
TBC1 domain family member 24 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism |
ClinVar |
PMID:3402014 PMID:25741868 PMID:27541164 PMID:28492532 PMID:28663785 PMID:29429257 PMID:29933521 PMID:31112829 PMID:33063868 PMID:34020146 More...
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NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
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G |
TFAM |
transcription factor A, mitochondrial |
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ISO |
mRNA:increased expression:striatum |
RGD |
PMID:22040668 |
RGD:6484267 |
NCBI chr10:58,385,410...58,399,220
Ensembl chr10:58,385,345...58,399,220
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G |
TGM6 |
transglutaminase 6 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism |
ClinVar |
PMID:25741868 |
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NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753
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G |
TH |
tyrosine hydroxylase |
susceptibility treatment |
IAGP IMP ISO EXP |
Segawa syndrome,autosomal recessive, OMIM:605407;DNA:missense mutation:exon:p.Q381L protein:decreased expression:striatum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:8817341 PMID:11246459 PMID:7814018 PMID:23831692 PMID:20561938 |
RGD:1601634, RGD:401700381, RGD:13524532 |
NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
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G |
TNF |
tumor necrosis factor |
treatment |
ISO |
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RGD |
PMID:21831964 PMID:28338241 |
RGD:7247422, RGD:13503338 |
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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G |
TNFRSF1B |
TNF receptor superfamily member 1B |
treatment |
IDA |
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RGD |
PMID:21831964 |
RGD:7247422 |
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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G |
TNFRSF9 |
TNF receptor superfamily member 9 |
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IAGP |
ClinVar Annotator: match by term: Parkinson Disease, Juvenile |
ClinVar |
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NCBI chr 1:7,915,871...7,940,839
Ensembl chr 1:7,915,871...7,943,165
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G |
UCN |
urocortin |
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ISO |
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RGD |
PMID:21362449 |
RGD:5508188 |
NCBI chr 2:27,307,400...27,308,445
Ensembl chr 2:27,307,400...27,308,445
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G |
VDAC1 |
voltage dependent anion channel 1 |
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IEP |
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RGD |
PMID:24825319 |
RGD:13504672 |
NCBI chr 5:133,971,871...134,114,540
Ensembl chr 5:133,971,871...134,004,975
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G |
VHL |
von Hippel-Lindau tumor suppressor |
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ISO |
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RGD |
PMID:20302395 |
RGD:2325190 |
NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
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G |
VIP |
vasoactive intestinal peptide |
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ISO |
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RGD |
PMID:15808913 |
RGD:5685601 |
NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765
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G |
PARK7 |
Parkinsonism associated deglycase |
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IAGP |
ClinVar Annotator: match by term: Guam disease |
ClinVar |
PMID:25741868 |
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NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505
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G |
TRPM7 |
transient receptor potential cation channel subfamily M member 7 |
susceptibility no_association |
IAGP EXP |
DNA:mutation:cds: p.T1482I (human) ClinVar Annotator: match by term: Guam disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:25741868 PMID:28492532 PMID:16051700 PMID:19405049 |
RGD:5685005, RGD:5685008 |
NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797
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G |
GBA1 |
glucosylceramidase beta 1 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease |
ClinVar |
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:2117855 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7789963 PMID:7981693 PMID:8160756 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8929950 PMID:9375849 PMID:9554746 PMID:9556036 PMID:10649495 PMID:10714667 PMID:10796875 PMID:11336129 PMID:12482401 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15826241 PMID:16293621 PMID:16967369 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18434642 PMID:18541817 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22388998 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24522292 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25741868 PMID:26096741 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27717005 PMID:27735925 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30941926 PMID:31010158 PMID:31130284 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 More...
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NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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G |
LOC106627981 |
GBA recombination region |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease |
ClinVar |
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:2117855 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7789963 PMID:7981693 PMID:8160756 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8929950 PMID:9375849 PMID:9554746 PMID:9556036 PMID:10649495 PMID:10714667 PMID:10796875 PMID:11336129 PMID:12482401 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15826241 PMID:16293621 PMID:16967369 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18434642 PMID:18541817 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22388998 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24522292 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25741868 PMID:26096741 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27717005 PMID:27735925 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30941926 PMID:31010158 PMID:31130284 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 More...
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NCBI chr 1:155,233,639...155,240,092
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SLC6A3 |
solute carrier family 6 member 3 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 1 |
OMIM ClinVar |
PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 PMID:16212992 PMID:18614672 PMID:19478460 PMID:19590515 PMID:20427663 PMID:21112253 PMID:22279524 PMID:22495311 PMID:23979605 PMID:25313507 PMID:25331903 PMID:25741436 PMID:25741868 PMID:26931468 PMID:28492532 PMID:29559554 More...
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NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440
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AHRR |
aryl hydrocarbon receptor repressor |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:321,714...438,285
Ensembl chr 5:321,714...438,291
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BRD9 |
bromodomain containing 9 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:863,741...892,801
Ensembl chr 5:850,291...892,801
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CEP72 |
centrosomal protein 72 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:612,340...676,616
Ensembl chr 5:612,340...667,168
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CLPTM1L |
CLPTM1 like |
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IAGP |
ClinVar Annotator: match by term: Infantile dystonia-parkinsonism ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099
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EXOC3 |
exocyst complex component 3 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:443,176...467,290
Ensembl chr 5:443,175...471,937
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EXOC3-AS1 |
EXOC3 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:441,835...443,160
Ensembl chr 5:441,498...443,160
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IRX4 |
iroquois homeobox 4 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:1,877,413...1,887,179
Ensembl chr 5:1,877,413...1,887,236
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LPCAT1 |
lysophosphatidylcholine acyltransferase 1 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:1,461,427...1,523,960
Ensembl chr 5:1,456,480...1,523,962
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MRPL36 |
mitochondrial ribosomal protein L36 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:1,798,385...1,801,434
Ensembl chr 5:1,798,385...1,801,366
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NDUFS6 |
NADH:ubiquinone oxidoreductase subunit S6 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048
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NKD2 |
NKD inhibitor of WNT signaling pathway 2 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:1,008,802...1,038,943
Ensembl chr 5:1,008,802...1,038,943
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PDCD6 |
programmed cell death 6 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:271,646...314,974
Ensembl chr 5:271,621...314,974
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SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
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SLC12A7 |
solute carrier family 12 member 7 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:1,050,384...1,155,899
Ensembl chr 5:1,050,384...1,112,063
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SLC6A18 |
solute carrier family 6 member 18 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:1,225,381...1,246,189
Ensembl chr 5:1,225,381...1,246,189
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SLC6A19 |
solute carrier family 6 member 19 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111
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SLC6A3 |
solute carrier family 6 member 3 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar Annotator: match by term: Infantile dystonia-parkinsonism |
CTD ClinVar |
PMID:9536098 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 PMID:16212992 PMID:17576681 PMID:18614672 PMID:19590515 PMID:20427663 PMID:21112253 PMID:22495311 PMID:22514303 PMID:23436987 PMID:23979605 PMID:24613933 PMID:25313507 PMID:25331903 PMID:25741436 PMID:25741868 PMID:25747272 PMID:25774383 PMID:26931468 PMID:27555326 PMID:28263315 PMID:28492532 PMID:29559554 More...
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NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440
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SLC9A3 |
solute carrier family 9 member A3 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449
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TERT |
telomerase reverse transcriptase |
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IAGP |
ClinVar Annotator: match by term: Infantile dystonia-parkinsonism ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TPPP |
tubulin polymerization promoting protein |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:659,862...700,727
Ensembl chr 5:659,862...693,352
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TRIP13 |
thyroid hormone receptor interactor 13 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
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ZDHHC11 |
zinc finger DHHC-type containing 11 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:795,605...860,563
Ensembl chr 5:795,605...858,973
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ZDHHC11B |
zinc finger DHHC-type containing 11B |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
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NCBI chr 5:710,355...784,729
Ensembl chr 5:710,355...784,729
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SLC18A2 |
solute carrier family 18 member A2 |
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IAGP |
ClinVar Annotator: match by term: PARKINSONISM-DYSTONIA, INFANTILE, 2 ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 2 ClinVar Annotator: match by term: Abnormal dense granules |
ClinVar OMIM |
PMID:23363473 PMID:25741868 PMID:26497564 PMID:28492532 PMID:28716265 PMID:32581362 PMID:35002152 PMID:36318270 More...
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NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430
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SLC18A2-AS1 |
SLC18A2 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 2 |
ClinVar |
PMID:25741868 |
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NCBI chr10:117,238,765...117,241,997
Ensembl chr10:117,238,762...117,241,998
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NR4A2 |
nuclear receptor subfamily 4 group A member 2 |
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IAGP |
ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism |
ClinVar OMIM |
PMID:25741868 PMID:29758562 PMID:29770430 PMID:31428396 PMID:31922365 PMID:32366965 PMID:33585677 More...
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NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348
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ATP13A2 |
ATPase cation transporting 13A2 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Parkinson disease 9 ClinVar Annotator: match by term: Kufor-Rakeb syndrome OMIM:606693 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:495089 PMID:9536098 PMID:12169656 PMID:16199547 PMID:16964263 PMID:17485642 PMID:17576681 PMID:18075584 PMID:18075585 PMID:18414213 PMID:19015489 PMID:19085912 PMID:19360675 PMID:19458722 PMID:19705361 PMID:20137506 PMID:20227461 PMID:20683840 PMID:20816920 PMID:20853184 PMID:20976737 PMID:21060012 PMID:21094623 PMID:21542062 PMID:21665991 PMID:21696388 PMID:21714071 PMID:21724849 PMID:22022275 PMID:22296644 PMID:22388936 PMID:22743658 PMID:22768177 PMID:22847264 PMID:22995991 PMID:23499937 PMID:23522931 PMID:24088041 PMID:24399444 PMID:25374329 PMID:25466404 PMID:25741868 PMID:26467025 PMID:26633545 PMID:27165006 PMID:27294386 PMID:28137957 PMID:28492532 PMID:28518168 PMID:29163333 PMID:29606608 PMID:29903538 PMID:29966207 PMID:30232368 PMID:30833663 PMID:30868101 PMID:31771779 PMID:31944623 PMID:31996848 PMID:32461654 PMID:32707456 More...
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NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
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LOC129929540 |
ATAC-STARR-seq lymphoblastoid silent region 339 |
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IAGP |
ClinVar Annotator: match by term: Kufor-Rakeb syndrome |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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ADH1C |
alcohol dehydrogenase 1C (class I), gamma polypeptide |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
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NCBI chr 4:99,336,497...99,352,746
Ensembl chr 4:99,336,497...99,352,746
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ATXN2 |
ataxin 2 |
susceptibility |
EXP IAGP |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
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NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
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ATXN3 |
ataxin 3 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
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NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621
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ATXN8OS |
ATXN8 opposite strand lncRNA |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
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NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738
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DNAJB6 |
DnaJ heat shock protein family (Hsp40) member B6 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:157,337,004...157,417,439
Ensembl chr 7:157,335,381...157,417,439
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DNAJC13 |
DnaJ heat shock protein family (Hsp40) member C13 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:24218364 PMID:25118025 PMID:27270108 |
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NCBI chr 3:132,417,502...132,539,032
Ensembl chr 3:132,417,502...132,539,032
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DTD2 |
D-aminoacyl-tRNA deacylase 2 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,446,036...31,457,506
Ensembl chr14:31,446,036...31,457,506
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EIF4G1 |
eukaryotic translation initiation factor 4 gamma 1 |
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IAGP EXP |
ClinVar Annotator: match by term: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO ClinVar Annotator: match by term: Parkinson disease 18, autosomal dominant, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:21907011 PMID:23408866 PMID:25368108 PMID:25741868 PMID:28492532 |
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NCBI chr 3:184,314,606...184,335,358
Ensembl chr 3:184,314,495...184,335,358
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FGF20 |
fibroblast growth factor 20 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:18252210 PMID:19133659 |
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NCBI chr 8:16,992,181...17,002,345
Ensembl chr 8:16,992,181...17,002,345
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GBA1 |
glucosylceramidase beta 1 |
susceptibility |
IAGP EXP |
ClinVar Annotator: match by term: Parkinson disease, late-onset CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary late onset Parkinson disease |
ClinVar OMIM CTD |
PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7655857 PMID:7789963 PMID:7916532 PMID:7981693 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8280613 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8774051 PMID:8790604 PMID:8889578 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9240741 PMID:9279145 PMID:9375849 PMID:9516376 PMID:9554746 PMID:9556036 PMID:10079102 PMID:10636167 PMID:10649495 PMID:10685993 PMID:10714667 PMID:10744424 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11783951 PMID:11903352 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12587096 PMID:12595585 PMID:12694238 PMID:12734541 PMID:12791040 PMID:12838552 PMID:12972024 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15826241 PMID:15967693 PMID:16061944 PMID:16199547 PMID:16293621 PMID:16967369 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17689991 PMID:17875915 PMID:18022370 PMID:18160183 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20629126 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21384230 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21831682 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22173904 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22227325 PMID:22247978 PMID:22375149 PMID:22387070 PMID:22388998 PMID:22429443 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22961873 PMID:22964618 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23225227 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23430873 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23699752 PMID:23719189 PMID:23811968 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:25084554 PMID:25127542 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25525159 PMID:25535748 PMID:25558695 PMID:25653295 PMID:25741868 PMID:25933391 PMID:25946768 PMID:26000814 PMID:26096741 PMID:26117366 PMID:26296077 PMID:26467025 PMID:26689913 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27682613 PMID:27717005 PMID:27735925 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29091352 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29842932 PMID:29934114 PMID:29980418 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30764785 PMID:30941926 PMID:31010158 PMID:31026225 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32165122 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33334373 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34134921 PMID:34275192 PMID:34649574 PMID:84325327 More...
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NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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G |
GLUD2 |
glutamate dehydrogenase 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Parkinson disease, late-onset CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:19826450 PMID:25741868 |
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NCBI chr X:121,047,610...121,050,094
Ensembl chr X:121,047,610...121,050,094
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G |
GPR33 |
G protein-coupled receptor 33 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,482,875...31,488,039
Ensembl chr14:31,482,875...31,488,039
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G |
GSTP1 |
glutathione S-transferase pi 1 |
susceptibility |
IAGP |
DNA:polymorphism:exon:A>G313 (human) |
RGD |
PMID:17250723 |
RGD:5148021 |
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
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G |
HEATR5A |
HEAT repeat containing 5A |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,291,788...31,420,550
Ensembl chr14:31,291,788...31,420,550
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G |
HEATR5A-DT |
HEATR5A divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,420,758...31,452,883
Ensembl chr14:31,420,286...31,452,883
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G |
HLA-DRA |
major histocompatibility complex, class II, DR alpha |
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IAGP |
DNA:SNP:intron: (rs3129882) (human) |
RGD |
PMID:21791235 |
RGD:5490156 |
NCBI chr 6:32,439,887...32,445,046
Ensembl chr 6:32,439,878...32,445,046
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G |
LOC106627981 |
GBA recombination region |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar Annotator: match by term: Hereditary late onset Parkinson disease |
ClinVar |
PMID:1348297 PMID:1487244 PMID:1558964 PMID:1704891 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7655857 PMID:7789963 PMID:7916532 PMID:7981693 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8280613 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8774051 PMID:8790604 PMID:8889578 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9240741 PMID:9279145 PMID:9375849 PMID:9516376 PMID:9554746 PMID:9556036 PMID:10079102 PMID:10636167 PMID:10649495 PMID:10685993 PMID:10714667 PMID:10744424 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11903352 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12587096 PMID:12595585 PMID:12694238 PMID:12734541 PMID:12791040 PMID:12838552 PMID:12972024 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15826241 PMID:15967693 PMID:16061944 PMID:16293621 PMID:16967369 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17689991 PMID:17875915 PMID:18022370 PMID:18160183 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20629126 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21384230 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21831682 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22173904 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22227325 PMID:22247978 PMID:22375149 PMID:22387070 PMID:22388998 PMID:22429443 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22961873 PMID:22964618 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23225227 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23699752 PMID:23719189 PMID:23811968 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:25084554 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25525159 PMID:25535748 PMID:25558695 PMID:25653295 PMID:25741868 PMID:25933391 PMID:25946768 PMID:26000814 PMID:26096741 PMID:26117366 PMID:26296077 PMID:26467025 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27717005 PMID:27735925 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29091352 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29842932 PMID:29934114 PMID:29980418 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30764785 PMID:30941926 PMID:31010158 PMID:31026225 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32165122 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33334373 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34134921 PMID:34275192 PMID:34649574 PMID:84325327 More...
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NCBI chr 1:155,233,639...155,240,092
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G |
LOC126861911 |
MED14-independent group 3 enhancer GRCh37_chr14:31961704-31962903 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,492,498...31,493,697
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G |
LOC129390617 |
MPRA-validated peak2131 silencer |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,653,210...31,653,410
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G |
LOC129934941 |
ATAC-STARR-seq lymphoblastoid silent region 12016 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:12496759 PMID:15079038 PMID:15184637 PMID:19429166 PMID:24126627 |
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G |
LOC130055450 |
ATAC-STARR-seq lymphoblastoid silent region 5656 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,420,011...31,420,130
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G |
LOC130055451 |
ATAC-STARR-seq lymphoblastoid active region 8232 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,420,241...31,420,290
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G |
LOC130055452 |
ATAC-STARR-seq lymphoblastoid active region 8233 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,420,721...31,420,870
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G |
LOC130055453 |
ATAC-STARR-seq lymphoblastoid active region 8236 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,544,372...31,544,521
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G |
LRRK2 |
leucine rich repeat kinase 2 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:15541309 PMID:15680455 PMID:15680456 PMID:15680457 PMID:15726496 PMID:15732108 PMID:15811455 PMID:15852371 PMID:15929036 PMID:15955629 PMID:16001413 PMID:16102999 PMID:16115731 PMID:16145815 PMID:16157901 PMID:16172858 PMID:16240353 PMID:16269541 PMID:16311269 PMID:16401756 PMID:16436781 PMID:16436782 PMID:16533964 PMID:16728648 PMID:16750377 PMID:16960813 PMID:16966501 PMID:16966502 PMID:17050822 PMID:17060595 PMID:17215492 PMID:17353388 PMID:17938369 PMID:18539534 PMID:18539535 PMID:18704525 PMID:18981379 PMID:18986508 PMID:19020907 PMID:19283415 PMID:20008657 PMID:20197411 PMID:20301387 PMID:21115957 PMID:21280089 PMID:21538529 PMID:21753163 PMID:21850687 PMID:22539006 PMID:22575234 PMID:23075850 PMID:23472874 PMID:24033266 PMID:24148854 PMID:24243757 PMID:24565865 PMID:24660942 PMID:25330418 PMID:25741868 PMID:26062626 PMID:26251043 PMID:26467025 PMID:27111571 PMID:28465860 PMID:28492532 PMID:28639421 PMID:29386392 PMID:29402177 More...
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NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285
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G |
MAPT |
microtubule associated protein tau |
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IAGP EXP |
ClinVar Annotator: match by term: Parkinson disease, late-onset CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary late onset Parkinson disease |
ClinVar OMIM CTD |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
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G |
MGC32805 |
uncharacterized LOC153163 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:12761037 PMID:18366718 PMID:28492532 |
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NCBI chr 5:122,436,497...122,479,087
Ensembl chr 5:122,436,497...122,479,087
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G |
MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:8104867 PMID:15972314 |
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NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
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G |
MT-TT |
mitochondrially encoded tRNA-Thr (ACN) |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953
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G |
NR4A2 |
nuclear receptor subfamily 4 group A member 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Parkinson disease, late-onset CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:12496759 PMID:15079038 PMID:15184637 PMID:19429166 PMID:23066323 PMID:24126627 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348
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G |
NUBPL |
NUBP iron-sulfur cluster assembly factor, mitochondrial |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,561,404...31,861,224
Ensembl chr14:31,489,956...31,861,224
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G |
NUBPL-DT |
NUBPL divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,553,499...31,561,331
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G |
PARK7 |
Parkinsonism associated deglycase |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
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NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505
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G |
PINK1 |
PTEN induced kinase 1 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
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NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511
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G |
PINK1-AS |
PINK1 antisense RNA |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
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NCBI chr 1:20,642,657...20,652,193
Ensembl chr 1:20,642,657...20,652,193
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G |
PODXL |
podocalyxin like |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:26864383 PMID:28492532 |
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NCBI chr 7:131,500,271...131,556,628
Ensembl chr 7:131,500,262...131,558,217
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G |
PSAP |
prosaposin |
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IAGP |
ClinVar Annotator: match by term: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO ClinVar Annotator: match by term: Parkinson disease 24, autosomal dominant, susceptibility to ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar OMIM |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30632081 PMID:31319425 PMID:32180488 PMID:32201884 PMID:33402667 More...
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NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
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G |
SNCAIP |
synuclein alpha interacting protein |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parkinson disease, late-onset |
CTD ClinVar |
PMID:12761037 PMID:18366718 PMID:28492532 |
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NCBI chr 5:122,311,353...122,464,219
Ensembl chr 5:122,311,354...122,464,219
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G |
TBP |
TATA-box binding protein |
susceptibility |
EXP IAGP |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
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NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870
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G |
VPS35 |
VPS35 retromer complex component |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
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NCBI chr16:46,656,132...46,689,178
Ensembl chr16:46,656,132...46,689,518
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G |
AGER |
advanced glycosylation end-product specific receptor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16141792 |
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NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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G |
AIF1 |
allograft inflammatory factor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
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NCBI chr 6:31,615,234...31,617,015
Ensembl chr 6:31,615,217...31,617,021
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G |
ANXA5 |
annexin A5 |
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IEP |
protein:increased expression: plasma |
RGD |
PMID:23576984 |
RGD:10053729 |
NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995
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G |
APOE |
apolipoprotein E |
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IEP |
protein:increased expression:neuron: |
RGD |
PMID:21907175 |
RGD:7771591 |
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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G |
BECN1 |
beclin 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19628769 |
|
NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
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G |
CCR1 |
C-C motif chemokine receptor 1 |
|
IEP |
|
RGD |
PMID:14595653 |
RGD:5688166 |
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
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G |
CHRNA4 |
cholinergic receptor nicotinic alpha 4 subunit |
|
IEP |
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RGD |
PMID:15465084 |
RGD:1358509 |
NCBI chr20:63,343,223...63,361,349
Ensembl chr20:63,343,223...63,378,401
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G |
CHRNA7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
IEP |
|
RGD |
PMID:15465084 |
RGD:1358509 |
NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018
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G |
EDN1 |
endothelin 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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G |
ELK1 |
ETS transcription factor ELK1 |
|
IEP |
|
RGD |
PMID:20126313 |
RGD:7488914 |
NCBI chr X:47,635,520...47,650,604
Ensembl chr X:47,635,521...47,650,604
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G |
ENO2 |
enolase 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30236862 |
|
NCBI chr12:6,914,580...6,923,697
Ensembl chr12:6,913,745...6,923,698
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G |
GBA1 |
glucosylceramidase beta 1 |
susceptibility |
IAGP EXP |
DNA:missense mutations:cds:multiple (human) ClinVar Annotator: match by term: Lewy body dementia ClinVar Annotator: match by term: Diffuse Lewy body disease CTD Direct Evidence: marker/mechanism DNA:missense mutations, frameshift mutation:cds:multiple (human) |
OMIM ClinVar CTD RGD |
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1840477 PMID:1897529 PMID:1899336 PMID:1961718 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7655857 PMID:7789963 PMID:7916532 PMID:7981693 PMID:8081401 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8280613 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8790604 PMID:8829654 PMID:8889578 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9240741 PMID:9279145 PMID:9295080 PMID:9375849 PMID:9497856 PMID:9554746 PMID:9556036 PMID:9683600 PMID:9856561 PMID:10079102 PMID:10352942 PMID:10466427 PMID:10636167 PMID:10649495 PMID:10685993 PMID:10714667 PMID:10744424 PMID:10757640 PMID:10777718 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11783951 PMID:11903352 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12587096 PMID:12595585 PMID:12838552 PMID:12972024 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15276648 PMID:15352589 PMID:15605411 PMID:15826241 PMID:15954102 PMID:15967693 PMID:16061944 PMID:16086325 PMID:16185900 PMID:16185907 PMID:16199547 PMID:16293621 PMID:16967369 PMID:16981045 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17574891 PMID:17620502 PMID:17689991 PMID:17803231 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19394250 PMID:19513999 PMID:19527940 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20004867 PMID:20301446 PMID:20425034 PMID:20432762 PMID:20629126 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20846888 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21056933 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21384230 PMID:21431620 PMID:21445609 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21744338 PMID:21745757 PMID:21779299 PMID:21837367 PMID:21856586 PMID:21982627 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22234757 PMID:22344629 PMID:22375149 PMID:22387070 PMID:22388998 PMID:22451204 PMID:22526844 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22803570 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23430873 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23699752 PMID:23719189 PMID:23757202 PMID:23811968 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24278166 PMID:24434810 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:24904648 PMID:25127542 PMID:25168325 PMID:25249066 PMID:25287185 PMID:25326392 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25525159 PMID:25535748 PMID:25558695 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25933391 PMID:25946768 PMID:26096741 PMID:26117366 PMID:26296077 PMID:26467025 PMID:26689913 PMID:26709268 PMID:26743617 PMID:26792850 PMID:26868973 PMID:26905200 PMID:27008851 PMID:27014572 PMID:27027900 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27153395 PMID:27222815 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27571329 PMID:27632223 PMID:27682613 PMID:27717005 PMID:27735925 PMID:27790088 PMID:27802905 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28034821 PMID:28492532 PMID:28506293 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29091352 PMID:29140481 PMID:29423829 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29656334 PMID:29685539 PMID:29784561 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30328501 PMID:30364808 PMID:30382391 PMID:30456712 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30548430 PMID:30573413 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30764785 PMID:30941926 PMID:30949558 PMID:31010158 PMID:31026225 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31256856 PMID:31561936 PMID:31662221 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32165122 PMID:32618053 PMID:32658388 PMID:32677286 PMID:32714263 PMID:32866938 PMID:32883051 PMID:32888397 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33334373 PMID:33402667 PMID:33473340 PMID:33547828 PMID:33570220 PMID:33589841 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34017912 PMID:34072005 PMID:34073924 PMID:34275192 PMID:34426522 PMID:34649574 PMID:84325327 PMID:20971030 PMID:25933391 More...
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RGD:5508424, RGD:12791014 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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G |
GFAP |
glial fibrillary acidic protein |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
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NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937
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G |
GPR37 |
G protein-coupled receptor 37 |
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IEP |
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RGD |
PMID:14991825 |
RGD:13504666 |
NCBI chr 7:124,743,885...124,765,792
Ensembl chr 7:124,743,885...124,765,792
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G |
IGF1R |
insulin like growth factor 1 receptor |
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IEP EXP IDA |
mRNA:altered expression:brain: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19276553 PMID:19276553 PMID:19276553 |
RGD:5129515, RGD:5129515 |
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
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G |
IGF2 |
insulin like growth factor 2 |
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IEP EXP |
mRNA:decreased expression:frontal cortex CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19276553 PMID:19276553 |
RGD:5129515 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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G |
IGF2R |
insulin like growth factor 2 receptor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
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NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507
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G |
INS |
insulin |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
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NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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G |
INSR |
insulin receptor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
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NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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G |
KLK6 |
kallikrein related peptidase 6 |
|
IAGP |
|
RGD |
PMID:12928483 |
RGD:1358597 |
NCBI chr19:50,958,631...50,969,591
Ensembl chr19:50,958,631...50,969,673
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G |
LOC106627981 |
GBA recombination region |
|
IAGP |
ClinVar Annotator: match by term: Diffuse Lewy body disease ClinVar Annotator: match by term: Lewy body dementia |
ClinVar |
PMID:1301953 PMID:1348297 PMID:1487244 PMID:1558964 PMID:1704891 PMID:1840477 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7655857 PMID:7789963 PMID:7916532 PMID:7981693 PMID:8081401 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8280613 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8790604 PMID:8829654 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9240741 PMID:9279145 PMID:9295080 PMID:9375849 PMID:9497856 PMID:9554746 PMID:9556036 PMID:9683600 PMID:9856561 PMID:10079102 PMID:10352942 PMID:10466427 PMID:10636167 PMID:10649495 PMID:10685993 PMID:10714667 PMID:10744424 PMID:10757640 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11783951 PMID:11903352 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12587096 PMID:12595585 PMID:12838552 PMID:12972024 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15276648 PMID:15352589 PMID:15605411 PMID:15826241 PMID:15954102 PMID:15967693 PMID:16061944 PMID:16086325 PMID:16185900 PMID:16185907 PMID:16293621 PMID:16967369 PMID:16981045 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17574891 PMID:17620502 PMID:17689991 PMID:17803231 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19394250 PMID:19527940 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20004867 PMID:20301446 PMID:20425034 PMID:20432762 PMID:20629126 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20846888 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21056933 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21384230 PMID:21431620 PMID:21445609 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21744338 PMID:21745757 PMID:21779299 PMID:21837367 PMID:21856586 PMID:21982627 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22234757 PMID:22344629 PMID:22375149 PMID:22387070 PMID:22388998 PMID:22451204 PMID:22526844 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23699752 PMID:23719189 PMID:23811968 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24278166 PMID:24434810 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:24904648 PMID:25168325 PMID:25249066 PMID:25287185 PMID:25326392 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25535748 PMID:25558695 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25933391 PMID:25946768 PMID:26096741 PMID:26117366 PMID:26296077 PMID:26467025 PMID:26709268 PMID:26743617 PMID:26792850 PMID:26868973 PMID:26905200 PMID:27008851 PMID:27014572 PMID:27027900 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27153395 PMID:27222815 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27571329 PMID:27632223 PMID:27717005 PMID:27735925 PMID:27790088 PMID:27802905 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28034821 PMID:28492532 PMID:28506293 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29091352 PMID:29140481 PMID:29423829 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29656334 PMID:29685539 PMID:29784561 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30328501 PMID:30364808 PMID:30382391 PMID:30456712 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30548430 PMID:30573413 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30764785 PMID:30941926 PMID:30949558 PMID:31010158 PMID:31026225 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31256856 PMID:31561936 PMID:31662221 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32165122 PMID:32618053 PMID:32658388 PMID:32677286 PMID:32714263 PMID:32866938 PMID:32883051 PMID:32888397 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33334373 PMID:33402667 PMID:33473340 PMID:33547828 PMID:33570220 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34017912 PMID:34072005 PMID:34073924 PMID:34275192 PMID:34426522 PMID:34649574 PMID:84325327 More...
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NCBI chr 1:155,233,639...155,240,092
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G |
LOC129389225 |
MPRA-validated peak5070 silencer |
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IAGP |
ClinVar Annotator: match by term: Lewy body dementia |
ClinVar |
PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 PMID:17251522 PMID:17625105 PMID:18195271 PMID:18852445 PMID:18852448 PMID:18852449 More...
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NCBI chr 4:89,898,305...89,898,505
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G |
MAG |
myelin associated glycoprotein |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
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NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807
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G |
MAP2 |
microtubule associated protein 2 |
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IEP EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30236862 PMID:20024519 |
RGD:6483091 |
NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147
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G |
MMRN1 |
multimerin 1 |
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IAGP |
ClinVar Annotator: match by term: Lewy body dementia |
ClinVar |
PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 PMID:17251522 PMID:17625105 PMID:18195271 PMID:18852445 PMID:18852448 PMID:18852449 More...
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NCBI chr 4:89,879,511...89,954,614
Ensembl chr 4:89,879,532...89,954,629
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G |
NEFL |
neurofilament light chain |
|
IEP |
protein:increased expression:CSF (human) |
RGD |
PMID:29368621 PMID:29391125 |
RGD:127284889, RGD:127285384 |
NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
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G |
NGF |
nerve growth factor |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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G |
NGFR |
nerve growth factor receptor |
|
IEP |
protein:decreased expression:brain |
RGD |
PMID:8347330 |
RGD:10413896 |
NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
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G |
NOS2 |
nitric oxide synthase 2 |
|
IDA |
|
RGD |
PMID:10674474 |
RGD:1358529 |
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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G |
NTRK1 |
neurotrophic receptor tyrosine kinase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
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G |
NTRK2 |
neurotrophic receptor tyrosine kinase 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
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NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
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G |
PCNA |
proliferating cell nuclear antigen |
|
IEP |
protein:increased expression:Hippocampal sub ventricular zone,Subgranular layer: |
RGD |
PMID:20665591 |
RGD:10448971 |
NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626
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G |
PPARGC1A |
PPARG coactivator 1 alpha |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30236862 |
|
NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
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G |
PRKN |
parkin RBR E3 ubiquitin protein ligase |
|
IEP |
|
RGD |
PMID:17467279 |
RGD:10412737 |
NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
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G |
SEPTIN4 |
septin 4 |
|
IEP |
|
RGD |
PMID:12695511 |
RGD:13504670 |
NCBI chr17:58,520,256...58,544,328
Ensembl chr17:58,520,250...58,544,368
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G |
SNCA |
synuclein alpha |
|
IAGP IEP EXP IMP |
ClinVar Annotator: match by term: Lewy body dementia protein:decreased expression:cerebral spinal fluid: CTD Direct Evidence: marker/mechanism protein:increased expression:hippocampus protein:increased expression:cerebrospinal fluid |
ClinVar CTD OMIM RGD |
PMID:9197268 PMID:9499430 PMID:9506559 PMID:9536098 PMID:9827625 PMID:10417297 PMID:11261505 PMID:11376188 PMID:12062037 PMID:14593171 PMID:14755719 PMID:14755720 PMID:15144854 PMID:15451224 PMID:15451225 PMID:15498564 PMID:15632170 PMID:16001411 PMID:16141792 PMID:16199547 PMID:16358335 PMID:17251522 PMID:17489854 PMID:17576681 PMID:17625105 PMID:18195271 PMID:18413475 PMID:18704525 PMID:18852445 PMID:18852448 PMID:18852449 PMID:19139307 PMID:19628769 PMID:19632874 PMID:19833540 PMID:20340137 PMID:21252228 PMID:21559878 PMID:23427326 PMID:23457019 PMID:23674501 PMID:23880019 PMID:24047453 PMID:24313877 PMID:24552873 PMID:24746362 PMID:24752924 PMID:24936070 PMID:25003242 PMID:25268550 PMID:25393002 PMID:25741868 PMID:25892596 PMID:26341711 PMID:26799529 PMID:26858591 PMID:27066564 PMID:27393118 PMID:28492532 PMID:28666710 PMID:29398121 PMID:29771508 PMID:30528390 PMID:30598256 PMID:32786148 PMID:33617693 PMID:20697047 PMID:18625222 PMID:11733371 PMID:10557341 PMID:18577885 More...
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RGD:6478704, RGD:13506723, RGD:6480103, RGD:6480095, RGD:6478792 |
NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
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SNCA-AS1 |
SNCA antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Lewy body dementia |
ClinVar |
PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 PMID:17251522 PMID:17625105 PMID:18195271 PMID:18852445 PMID:18852448 PMID:18852449 More...
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NCBI chr 4:89,836,401...89,841,991
Ensembl chr 4:89,836,408...89,841,978
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SNCB |
synuclein beta |
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IAGP EXP IEP IMP |
DNA:mutations:cds:p.V70M, P123H (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lewy body dementia protein:increased expression:hippocampus |
CTD ClinVar OMIM RGD |
PMID:15365127 PMID:21045828 PMID:25741868 PMID:26332674 PMID:31589614 PMID:33760043 PMID:15365127 PMID:10557341 PMID:15483670 More...
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RGD:6219004, RGD:6480095, RGD:6478800 |
NCBI chr 5:176,620,082...176,630,534
Ensembl chr 5:176,620,082...176,630,556
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SNCG |
synuclein gamma |
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IAGP IEP |
protein:increased expression:hippocampus protein:increased expression:cerebrospinal fluid |
RGD |
PMID:20697047 PMID:10557341 PMID:18577885 |
RGD:6478704, RGD:6480095, RGD:6478792 |
NCBI chr10:86,955,759...86,963,258
Ensembl chr10:86,958,599...86,963,258
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SOD2 |
superoxide dismutase 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16141792 |
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NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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TARDBP |
TAR DNA binding protein |
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IEP |
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RGD |
PMID:20669025 |
RGD:5687180 |
NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528
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TH |
tyrosine hydroxylase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30236862 |
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NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
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VCP |
valosin containing protein |
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IAGP |
ClinVar Annotator: match by term: Lewy body dementia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
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AQP9 |
aquaporin 9 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29566083 |
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NCBI chr15:58,138,169...58,185,911
Ensembl chr15:58,138,169...58,185,911
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IL17A |
interleukin 17A |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31351185 |
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NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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INS |
insulin |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:26364587 |
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NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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A2M |
alpha-2-macroglobulin |
onset |
IEA IAGP |
DNA:polymorphism: :p.I1000V (human) |
GAD RGD |
PMID:15118671 PMID:12133586 |
RGD:1331525, RGD:10046014 |
NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229
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ABCB1 |
ATP binding cassette subfamily B member 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20558393 |
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NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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IEP ISO |
protein:increased phosphorylation:striatum: protein:increased expression:brain: |
RGD |
PMID:20823226 PMID:24412932 PMID:24412932 |
RGD:8693409, RGD:8693592, RGD:8693592 |
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
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ACE |
angiotensin I converting enzyme |
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IEA |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ACHE |
acetylcholinesterase (Cartwright blood group) |
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IEP |
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RGD |
PMID:19474411 |
RGD:5509846 |
NCBI chr 7:100,889,994...100,896,994
Ensembl chr 7:100,889,994...100,896,974
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ADARB2 |
adenosine deaminase RNA specific B2 (inactive) |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
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NCBI chr10:1,177,313...1,737,525
Ensembl chr10:1,177,313...1,737,525
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ADCY5 |
adenylate cyclase 5 |
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ISS |
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 |
MouseDO |
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NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090
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ADH7 |
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide |
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ISS |
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 |
MouseDO |
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NCBI chr 4:99,412,263...99,435,342
Ensembl chr 4:99,412,261...99,435,510
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AFDN |
afadin, adherens junction formation factor |
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IEP |
protein:decreased expression: caudate-putamen, substantia nigra |
RGD |
PMID:23393160 |
RGD:13838733 |
NCBI chr 6:167,826,564...167,972,023
Ensembl chr 6:167,826,893...167,972,023
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AGTR1 |
angiotensin II receptor type 1 |
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IEP |
protein:decreased expression:caudate nucleus,putamen,substantia nigra: |
RGD |
PMID:8666063 |
RGD:10047397 |
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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AIF1 |
allograft inflammatory factor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
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NCBI chr 6:31,615,234...31,617,015
Ensembl chr 6:31,615,217...31,617,021
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AKT1 |
AKT serine/threonine kinase 1 |
no_association |
IAGP IEP |
DNA:SNPs:introns:multiple (human) DNA:SNPs, haplotype:introns:multiple (human) protein:altered expression:brain |
RGD |
PMID:21741444 PMID:18395980 PMID:19800394 |
RGD:5509064, RGD:5509076, RGD:5509074 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
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ALDH2 |
aldehyde dehydrogenase 2 family member |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24491970 |
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NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
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ANG |
angiogenin |
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IAGP |
DNA:mutations:multiple |
RGD |
PMID:22190368 |
RGD:6892707 |
NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
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ANXA5 |
annexin A5 |
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IEP |
protein:decreased expression:cerebrospinal fluid: |
RGD |
PMID:10584677 |
RGD:10053728 |
NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995
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APAF1 |
apoptotic peptidase activating factor 1 |
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IEP |
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RGD |
PMID:24835407 |
RGD:13503333 |
NCBI chr12:98,645,290...98,735,433
Ensembl chr12:98,645,290...98,735,433
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APOA1 |
apolipoprotein A1 |
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IEP |
protein: altered expression: cerebrospinal fluid: 2 different isoforms |
RGD |
PMID:20085559 |
RGD:5508216 |
NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
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APOE |
apolipoprotein E |
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IEP |
protein:increased expression:neuron: |
RGD |
PMID:21907175 |
RGD:7771591 |
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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ARPC3 |
actin related protein 2/3 complex subunit 3 |
treatment |
ISO |
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RGD |
PMID:20713051 |
RGD:11049454 |
NCBI chr12:110,434,823...110,450,337
Ensembl chr12:110,434,823...110,450,422
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ATG7 |
autophagy related 7 |
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ISS |
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 |
MouseDO |
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NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665
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ATM |
ATM serine/threonine kinase |
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IDA |
protein:increased serine phosphorylation:cingulate gyrus |
RGD |
PMID:20502937 |
RGD:10053605 |
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,223,044...108,369,102
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ATP13A2 |
ATPase cation transporting 13A2 |
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IAGP EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23628791 PMID:25149416 PMID:26223426 |
RGD:10450518 |
NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
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AXIN2 |
axin 2 |
ameliorates |
ISO |
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RGD |
PMID:31078578 |
RGD:151356747 |
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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B2M |
beta-2-microglobulin |
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IEP |
protein:increased expression:corpus striatum |
RGD |
PMID:7605592 |
RGD:6482706 |
NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
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BAG5 |
BAG cochaperone 5 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28348719 |
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NCBI chr14:103,556,551...103,562,657
Ensembl chr14:103,556,545...103,562,657
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BDNF |
brain derived neurotrophic factor |
no_association |
IEA EXP IAGP IEP |
CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human) protein:decreased expression:substantia nigra pars compacta: |
CTD RGD |
PMID:19276553 PMID:15118671 PMID:16565926 PMID:10208589 |
RGD:1331525, RGD:10059346, RGD:8657025 |
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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BGLAP |
bone gamma-carboxyglutamate protein |
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IEP |
protein:decreased expression:serum |
RGD |
PMID:16114020 |
RGD:7207224 |
NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317
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BST1 |
bone marrow stromal cell antigen 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19915576 |
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NCBI chr 4:15,703,065...15,774,173
Ensembl chr 4:15,703,065...15,738,313
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CASP3 |
caspase 3 |
treatment |
IDA |
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RGD |
PMID:16505307 |
RGD:13503345 |
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
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CASP9 |
caspase 9 |
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IDA |
protein:increased activity:blood, leukocyte |
RGD |
PMID:16505307 |
RGD:13503345 |
NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
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CAST |
calpastatin |
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IAGP IEP |
DNA:SNP:intron: (rs1559085) (human) protein:decreased expression:substantia nigra, dopaminergic neuron |
RGD |
PMID:20127884 PMID:10722997 |
RGD:5509800, RGD:5683320 |
NCBI chr 5:95,961,429...96,774,683
Ensembl chr 5:96,525,267...96,779,595
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CCK |
cholecystokinin |
no_association |
IAGP |
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RGD |
PMID:10668930 |
RGD:1626086 |
NCBI chr 3:42,257,826...42,266,185
Ensembl chr 3:42,257,825...42,266,185
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CCN2 |
cellular communication network factor 2 |
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ISO |
protein:increased expression:substantia nigra (rat) |
RGD |
PMID:19463894 |
RGD:2314505 |
NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
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G |
CEACAM6 |
CEA cell adhesion molecule 6 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
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NCBI chr19:41,755,530...41,772,211
Ensembl chr19:41,750,977...41,772,211
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G |
CNTNAP2 |
contactin associated protein 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
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NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998
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COL19A1 |
collagen type XIX alpha 1 chain |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
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NCBI chr 6:69,866,556...70,212,468
Ensembl chr 6:69,866,556...70,212,468
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COX10 |
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 |
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ISS |
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 |
MouseDO |
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NCBI chr17:14,069,504...14,208,677
Ensembl chr17:14,069,490...14,231,736
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CP |
ceruloplasmin |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19159062 PMID:25758665 |
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NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
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CRH |
corticotropin releasing hormone |
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IEP |
protein:decreased expression:cerebral cortex (human) |
RGD |
PMID:3502064 |
RGD:5508835 |
NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
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CRIPTO |
cripto, EGF-CFC family member |
treatment |
ISO |
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RGD |
PMID:20641036 |
RGD:11561895 |
NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
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CRP |
C-reactive protein |
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IEP |
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RGD |
PMID:22426659 |
RGD:6482307 |
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CYP1A1 |
cytochrome P450 family 1 subfamily A member 1 |
no_association susceptibility |
IAGP |
DNA:missense mutation:cds:p.I462V (human) DNA:polymorphisms (human) |
RGD |
PMID:11793160 PMID:8872868 PMID:11484167 |
RGD:5147678, RGD:5147681, RGD:5147679 |
NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
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CYP2D6 |
cytochrome P450 family 2 subfamily D member 6 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14991823 PMID:15174030 |
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NCBI chr22:42,126,499...42,130,810
Ensembl chr22:42,126,499...42,130,865
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G |
CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16510128 |
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NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
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DBH |
dopamine beta-hydroxylase |
susceptibility |
IEP IAGP |
protein:increased expression:frontal cortex (human) DNA:snp:5' utr:g.-1021C>T (human) |
RGD |
PMID:19276553 PMID:14991826 |
RGD:5129515, RGD:1358583 |
NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329
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DBN1 |
drebrin 1 |
treatment |
ISO |
levodopainduced; protein:increased expression:striatum: |
RGD |
PMID:23241013 |
RGD:10398811 |
NCBI chr 5:177,456,610...177,473,634
Ensembl chr 5:177,456,608...177,474,401
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DDC |
dopa decarboxylase |
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ISO EXP IMP |
protein:altered expression:arcuate nucleus ((rat) CTD Direct Evidence: therapeutic human gene in a rat model |
CTD RGD |
PMID:2969953 PMID:11445284 PMID:15935614 PMID:12703659 PMID:9853519 |
RGD:5129231, RGD:4139893, RGD:5129121 |
NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405
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DDIT4 |
DNA damage inducible transcript 4 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17005863 |
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NCBI chr10:72,273,924...72,276,036
Ensembl chr10:72,273,919...72,276,036
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G |
DDOST |
dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit |
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IAGP |
ClinVar Annotator: match by term: Parkinson Disease, Recessive |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:20,651,777...20,661,369
Ensembl chr 1:20,651,767...20,661,544
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G |
DDR2 |
discoidin domain receptor tyrosine kinase 2 |
treatment |
ISO |
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RGD |
PMID:28863860 |
RGD:150519888 |
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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G |
DLG1 |
discs large MAGUK scaffold protein 1 |
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ISO |
protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles (rat) |
RGD |
PMID:15703272 |
RGD:2306834 |
NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
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G |
DLG4 |
discs large MAGUK scaffold protein 4 |
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ISO |
protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles (rat) |
RGD |
PMID:15703272 |
RGD:2306834 |
NCBI chr17:7,187,187...7,220,050
Ensembl chr17:7,187,187...7,219,841
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G |
DNAJB6 |
DnaJ heat shock protein family (Hsp40) member B6 |
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IAGP |
ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:157,337,004...157,417,439
Ensembl chr 7:157,335,381...157,417,439
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G |
DNAJC13 |
DnaJ heat shock protein family (Hsp40) member C13 |
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IAGP |
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RGD |
PMID:25701813 |
RGD:10450845 |
NCBI chr 3:132,417,502...132,539,032
Ensembl chr 3:132,417,502...132,539,032
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G |
DNAJC6 |
DnaJ heat shock protein family (Hsp40) member C6 |
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IAGP |
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RGD |
PMID:25639775 |
RGD:10450521 |
NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871
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G |
DNM1L |
dynamin 1 like |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28215578 |
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NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
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G |
DRAXIN |
dorsal inhibitory axon guidance protein |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
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NCBI chr 1:11,686,635...11,725,857
Ensembl chr 1:11,691,710...11,725,857
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G |
DRD1 |
dopamine receptor D1 |
treatment |
ISO EXP |
protein:decreased expression:striatum (rat) CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:8558425 PMID:16365282 PMID:23041629 |
RGD:7248455, RGD:7248595 |
NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
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G |
DRD2 |
dopamine receptor D2 |
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ISO ISS EXP |
protein:increased expression:striatum (rat) CTD Direct Evidence: therapeutic |
MouseDO CTD RGD |
PMID:8558425 PMID:18289173 |
RGD:2311585 |
NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
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G |
DRD3 |
dopamine receptor D3 |
severity |
IEP |
protein:increased expression:blood, lymphocyte mRNA:decreased expression:blood, lymphocyte |
RGD |
PMID:10495037 PMID:8618685 |
RGD:5686418, RGD:5686419 |
NCBI chr 3:114,127,580...114,199,407
Ensembl chr 3:114,127,580...114,199,407
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G |
DRD5 |
dopamine receptor D5 |
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IEP |
protein:increased expression:blood, lymphocyte |
RGD |
PMID:10495037 |
RGD:5686418 |
NCBI chr 4:9,781,634...9,784,009
Ensembl chr 4:9,781,634...9,784,009
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G |
DTD2 |
D-aminoacyl-tRNA deacylase 2 |
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IAGP |
ClinVar Annotator: match by term: Parkinson's disease |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,446,036...31,457,506
Ensembl chr14:31,446,036...31,457,506
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G |
EDN1 |
endothelin 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
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NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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G |
EGF |
epidermal growth factor |
disease_progression |
IEP |
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RGD |
PMID:21520231 |
RGD:10059679 |
NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
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G |
EGFR |
epidermal growth factor receptor |
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IEP |
protein:decreased expression:forebrain |
RGD |
PMID:15857400 |
RGD:2289955 |
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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G |
EIF2AK2 |
eukaryotic translation initiation factor 2 alpha kinase 2 |
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IDA |
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RGD |
PMID:15567511 |
RGD:10395348 |
NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522
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G |
EN1 |
engrailed homeobox 1 |
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IAGP ISS |
DNA:SNP:enhancer: (rs1438852) (human) |
MouseDO RGD |
PMID:19345444 |
RGD:5687197 |
NCBI chr 2:118,842,171...118,847,648
Ensembl chr 2:118,842,171...118,847,648
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G |
ENO2 |
enolase 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30236862 |
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NCBI chr12:6,914,580...6,923,697
Ensembl chr12:6,913,745...6,923,698
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G |
EPHX1 |
epoxide hydrolase 1 |
no_association |
IAGP |
DNA:missense mutation:exon:p.Y113H (human) DNA:missense mutations:exons:p.Y113H (499T>C), p.H139R (578A>G) (human) |
RGD |
PMID:10720475 PMID:11692079 |
RGD:5490167, RGD:5688390 |
NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563
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G |
EPHX2 |
epoxide hydrolase 2 |
no_association |
IAGP |
DNA:missense mutation, insertion:exons:p.R287Q (898G>A), p.S402_R403insR (1246_1247insTCG) (human) |
RGD |
PMID:11692079 |
RGD:5688390 |
NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564
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G |
EPO |
erythropoietin |
treatment |
IMP |
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RGD |
PMID:19727138 |
RGD:10400901 |
NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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G |
ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
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IEP |
protein:decreased expression:forebrain |
RGD |
PMID:15857400 |
RGD:2289955 |
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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G |
ESR2 |
estrogen receptor 2 |
onset |
IAGP |
DNA:polymorphism: :1730A>G(human) |
RGD |
PMID:15219649 |
RGD:5508776 |
NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
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G |
FAS |
Fas cell surface death receptor |
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IEP |
protein:decreased expression:neurones of the substantia nigra pars: |
RGD |
PMID:11054182 |
RGD:12903948 |
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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G |
FASLG |
Fas ligand |
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ISO IEP |
protein:increased expression:substantia nigra pars compacta, striatum (rat) protein:decreased expression:neurones of the substantia nigra pars: |
RGD |
PMID:17959308 PMID:11054182 |
RGD:2290172, RGD:12903948 |
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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G |
FBP1 |
fructose-bisphosphatase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18353766 |
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NCBI chr 9:94,603,133...94,640,263
Ensembl chr 9:94,603,133...94,640,249
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G |
FBXO7 |
F-box protein 7 |
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IAGP |
ClinVar Annotator: match by term: Parkinson Disease, Recessive |
ClinVar RGD |
PMID:26223426 |
RGD:10450518 |
NCBI chr22:32,474,811...32,498,829
Ensembl chr22:32,474,676...32,498,829
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G |
FCER2 |
Fc epsilon receptor II |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
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NCBI chr19:7,688,776...7,702,131
Ensembl chr19:7,688,758...7,702,146
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G |
FEZ1 |
fasciculation and elongation protein zeta 1 |
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ISO |
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RGD |
PMID:23888906 |
RGD:13208826 |
NCBI chr11:125,442,881...125,496,265
Ensembl chr11:125,442,881...125,592,568
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G |
FGB |
fibrinogen beta chain |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23233872 |
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NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
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G |
GAK |
cyclin G associated kinase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20711177 |
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NCBI chr 4:849,277...932,316
Ensembl chr 4:849,276...932,373
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G |
GBA1 |
glucosylceramidase beta 1 |
onset no_association |
IAGP EXP |
DNA:missense mutations:cds:multiple (human) ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.E326K, p.T369M (human) DNA:missense mutation:cds:p.N370S (human) DNA:missense mutations:cds:p.K-26R, p.K186R, p.N370S (human) DNA:mutations:multiple (human) |
ClinVar CTD RGD |
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:2117855 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7789963 PMID:7981693 PMID:8160756 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8929950 PMID:9375849 PMID:9554746 PMID:9556036 PMID:10649495 PMID:10714667 PMID:10796875 PMID:11336129 PMID:12482401 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15826241 PMID:16293621 PMID:16967369 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18434642 PMID:18541817 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22388998 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24522292 PMID:24756352 PMID:25064009 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25741868 PMID:26096741 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27717005 PMID:27735925 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30941926 PMID:31010158 PMID:31130284 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 PMID:21242499 PMID:20947659 PMID:20528910 PMID:19945510 PMID:26223426 PMID:25639775 PMID:24126159 More...
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RGD:5508422, RGD:5508425, RGD:5508427, RGD:5508429, RGD:10450518, RGD:10450521, RGD:12791016 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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G |
GDF5 |
growth differentiation factor 5 |
treatment |
IDA ISO |
mRNA:increased expression:striatum: |
RGD |
PMID:22436046 PMID:24373993 |
RGD:12738227, RGD:12738228 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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G |
GDNF |
glial cell derived neurotrophic factor |
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IEP EXP |
mRNA:increased expression:putamen CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:11031079 PMID:16324109 PMID:16644101 |
RGD:6218968 |
NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041
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G |
GFAP |
glial fibrillary acidic protein |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
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NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937
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G |
GJC2 |
gap junction protein gamma 2 |
treatment |
ISO |
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RGD |
PMID:21561882 |
RGD:13208520 |
NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826
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G |
GPR33 |
G protein-coupled receptor 33 |
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IAGP |
ClinVar Annotator: match by term: Parkinson's disease |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,482,875...31,488,039
Ensembl chr14:31,482,875...31,488,039
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G |
GPR37 |
G protein-coupled receptor 37 |
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IEP |
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RGD |
PMID:14991825 |
RGD:13504666 |
NCBI chr 7:124,743,885...124,765,792
Ensembl chr 7:124,743,885...124,765,792
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G |
GPX1 |
glutathione peroxidase 1 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15824117 |
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NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605
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G |
GRK2 |
G protein-coupled receptor kinase 2 |
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ISO |
Protein: decreased expression: brain |
RGD |
PMID:17996024 |
RGD:5685370 |
NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556
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G |
GRK3 |
G protein-coupled receptor kinase 3 |
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ISO |
protein:decreased expression:caudate putamen (rat) |
RGD |
PMID:17996024 |
RGD:5685370 |
NCBI chr22:25,564,675...25,729,294
Ensembl chr22:25,564,675...25,729,294
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G |
GRK5 |
G protein-coupled receptor kinase 5 |
no_association |
IAGP ISO IEP |
DNA: snps: :rs871196, rs2420616, rs7069375, rs4752293 protein: decreased expression: brain |
RGD |
PMID:21184589 PMID:17996024 PMID:17125886 |
RGD:5688382, RGD:5685370, RGD:5688384 |
NCBI chr10:119,207,571...119,459,745
Ensembl chr10:119,207,571...119,459,745
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G |
GRK6 |
G protein-coupled receptor kinase 6 |
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IMP ISO |
human gene in rat model protein: decreased expression: brain |
RGD |
PMID:22090514 PMID:17996024 |
RGD:5684916, RGD:5685370 |
NCBI chr 5:177,425,523...177,442,891
Ensembl chr 5:177,403,204...177,442,901
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G |
GRN |
granulin precursor |
no_association |
IEP IAGP |
protein:decreased expression:serum DNA:SNP:3' utr:*78C>T (rs5848) (human) |
RGD |
PMID:23398167 PMID:19473366 |
RGD:10401642, RGD:10401644 |
NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
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G |
GSK3B |
glycogen synthase kinase 3 beta |
treatment |
ISO |
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RGD |
PMID:23094836 |
RGD:10045553 |
NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994
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G |
GSTA4 |
glutathione S-transferase alpha 4 |
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ISO EXP |
mRNA:increased expression:striatum (mouse) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16510128 PMID:20964710 |
RGD:5687772 |
NCBI chr 6:52,977,953...52,995,284
Ensembl chr 6:52,977,948...52,995,304
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G |
GSTM1 |
glutathione S-transferase mu 1 |
susceptibility no_association onset |
IAGP EXP |
CTD Direct Evidence: marker/mechanism DNA:deletion:cds (human) |
CTD RGD |
PMID:17449559 PMID:17403576 PMID:10534244 PMID:10720475 |
RGD:5148019, RGD:7488959, RGD:5490167 |
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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G |
GSTO1 |
glutathione S-transferase omega 1 |
susceptibility onset |
IAGP |
DNA:polymorphism:exon:p. A140D (rs4925) (human) |
RGD |
PMID:17194543 PMID:14570706 |
RGD:5490299, RGD:1358651 |
NCBI chr10:104,254,173...104,267,455
Ensembl chr10:104,235,356...104,267,459
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G |
GSTO2 |
glutathione S-transferase omega 2 |
susceptibility onset |
IAGP |
DNA:polymorphism: : -183 A>G (rs2297235)(human) DDNA:polymorphism: : -183 A>G (rs2297235)(human) |
RGD |
PMID:17194543 PMID:14570706 |
RGD:5490299, RGD:1358651 |
NCBI chr10:104,269,184...104,304,950
Ensembl chr10:104,268,873...104,304,950
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G |
GSTP1 |
glutathione S-transferase pi 1 |
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IAGP EXP |
DNA:del: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17190945 PMID:23721876 PMID:9802272 |
RGD:1358669 |
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
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G |
GSTT1 |
glutathione S-transferase theta 1 |
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IAGP |
DNA:deletion: : |
RGD |
PMID:10953187 |
RGD:5490165 |
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G |
HBB |
hemoglobin subunit beta |
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IEP |
protein:decreased expression:brain, mitochondrion |
RGD |
PMID:24333691 |
RGD:10449046 |
NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
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G |
HBG1 |
hemoglobin subunit gamma 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
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NCBI chr11:5,248,269...5,249,857
Ensembl chr11:5,248,269...5,249,857
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G |
HCN3 |
hyperpolarization activated cyclic nucleotide gated potassium channel 3 |
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ISO |
mRNA:increased expression:neuron: |
RGD |
PMID:19320057 |
RGD:9693679 |
NCBI chr 1:155,277,463...155,289,848
Ensembl chr 1:155,277,463...155,289,848
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G |
HEATR5A |
HEAT repeat containing 5A |
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IAGP |
ClinVar Annotator: match by term: Parkinson's disease |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,291,788...31,420,550
Ensembl chr14:31,291,788...31,420,550
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G |
HEATR5A-DT |
HEATR5A divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Parkinson's disease |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,420,758...31,452,883
Ensembl chr14:31,420,286...31,452,883
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G |
HFE |
homeostatic iron regulator |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16824219 |
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NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343
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G |
HGF |
hepatocyte growth factor |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16791285 |
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NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
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G |
HLA-DRA |
major histocompatibility complex, class II, DR alpha |
onset |
IAGP EXP |
DNA:SNP:intron: (rs3129882) (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20711177 PMID:20711177 |
RGD:5490158 |
NCBI chr 6:32,439,887...32,445,046
Ensembl chr 6:32,439,878...32,445,046
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G |
HLA-DRB1 |
major histocompatibility complex, class II, DR beta 1 |
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IAGP |
DNA:polymorphism: :HLA-DRB1*03 (human) |
RGD |
PMID:20462916 |
RGD:5147576 |
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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G |
HLA-DRB5 |
major histocompatibility complex, class II, DR beta 5 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27713094 |
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NCBI chr 6:32,517,353...32,530,287
Ensembl chr 6:32,517,353...32,530,287
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G |
HMGCR |
3-hydroxy-3-methylglutaryl-CoA reductase |
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IMP |
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RGD |
PMID:18184918 |
RGD:5508459 |
NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
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G |
HMOX1 |
heme oxygenase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21318773 |
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NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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G |
HNMT |
histamine N-methyltransferase |
no_association |
IAGP |
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RGD |
PMID:19773194 PMID:17985251 |
RGD:5509775, RGD:5509778 |
NCBI chr 2:137,964,473...138,016,364
Ensembl chr 2:137,964,020...138,016,364
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G |
HSF1 |
heat shock transcription factor 1 |
treatment |
ISO |
protein:decreased expression:midbrain (rat) |
RGD |
PMID:24852355 PMID:24296154 |
RGD:10402545, RGD:10402753 |
NCBI chr 8:144,291,604...144,314,720
Ensembl chr 8:144,291,591...144,314,720
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G |
HSPA1A |
heat shock protein family A (Hsp70) member 1A |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15585408 |
|
NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946
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G |
HSPA4 |
heat shock protein family A (Hsp70) member 4 |
|
ISO |
protein:decreased expression:striatum (rat) |
RGD |
PMID:22186119 |
RGD:5686884 |
NCBI chr 5:133,052,013...133,106,449
Ensembl chr 5:133,052,013...133,106,449
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G |
HSPA8 |
heat shock protein family A (Hsp70) member 8 |
|
IEP ISO IMP |
protein: decreased expression protein: increased expression: brain |
RGD |
PMID:20697033 PMID:17241115 PMID:18704197 |
RGD:6218982, RGD:6480228, RGD:6480203 |
NCBI chr11:123,057,489...123,062,462
Ensembl chr11:123,057,489...123,063,230
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G |
HSPA9 |
heat shock protein family A (Hsp70) member 9 |
disease_progression |
IAGP EXP IEP IDA |
DNA:mutation:cds:A>T476(human) CTD Direct Evidence: marker/mechanism protein:decreased expression:brain DNA:mutations:multiple: |
CTD RGD |
PMID:16565515 PMID:20817635 PMID:16565515 PMID:18219256 PMID:19657588 |
RGD:6784528, RGD:6784531, RGD:6784530, RGD:6784529 |
NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
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G |
HSPD1 |
heat shock protein family D (Hsp60) member 1 |
|
ISO |
|
RGD |
PMID:23943523 |
RGD:10402846 |
NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
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G |
HTR1A |
5-hydroxytryptamine receptor 1A |
|
ISO |
|
RGD |
PMID:20508280 |
RGD:5683633 |
NCBI chr 5:63,957,874...63,962,445
Ensembl chr 5:63,957,874...63,962,507
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G |
HTRA2 |
HtrA serine peptidase 2 |
no_association |
ISO IAGP |
DNA:missense mutation, transversion:cds, intron:p.G26E, g.IVS5+29T>A (human) DNA:missense mutation:cds:p.P143A (human) DNA:missense mutations:cds:p.A141S, p.G399S (human) DNA:missense mutation:cds:p.R404W (human) DNA:missense mutation:cds:p.S276C (mouse) |
RGD |
PMID:15509788 PMID:21338583 PMID:21701785 PMID:18364387 PMID:18401856 PMID:14534547 PMID:15961413 More...
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RGD:5688367, RGD:5688714, RGD:5688395, RGD:5688394, RGD:5688393, RGD:5688392, RGD:5688381 |
NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350
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G |
HTT |
huntingtin |
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IMP |
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RGD |
PMID:26192120 |
RGD:13452383 |
NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957
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G |
IGF1R |
insulin like growth factor 1 receptor |
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ISO EXP IEP |
protein: altered activity CTD Direct Evidence: marker/mechanism mRNA:altered expression:brain: |
CTD RGD |
PMID:19276553 PMID:19703168 PMID:19276553 |
RGD:5686429, RGD:5129515 |
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
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G |
IGF2 |
insulin like growth factor 2 |
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IEP EXP |
mRNA:decreased expression:frontal cortex CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19276553 PMID:19276553 |
RGD:5129515 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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G |
IGF2R |
insulin like growth factor 2 receptor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
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NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507
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G |
IL1B |
interleukin 1 beta |
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IAGP ISO |
|
RGD |
PMID:12070246 PMID:23159314 |
RGD:1358742, RGD:7175549 |
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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G |
IL6 |
interleukin 6 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21318773 |
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NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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G |
INS |
insulin |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
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NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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G |
INSR |
insulin receptor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
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NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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G |
KCNJ4 |
potassium inwardly rectifying channel subfamily J member 4 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18619942 |
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NCBI chr22:38,426,327...38,455,199
Ensembl chr22:38,426,327...38,455,199
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G |
KCNN2 |
potassium calcium-activated channel subfamily N member 2 |
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ISS |
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 |
MouseDO |
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NCBI chr 5:114,055,978...114,496,496
Ensembl chr 5:114,055,926...114,496,500
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G |
KLK6 |
kallikrein related peptidase 6 |
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IAGP |
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RGD |
PMID:12928483 |
RGD:1358597 |
NCBI chr19:50,958,631...50,969,591
Ensembl chr19:50,958,631...50,969,673
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G |
L1CAM |
L1 cell adhesion molecule |
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ISO |
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RGD |
PMID:19995872 |
RGD:6483033 |
NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173
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G |
LEP |
leptin |
treatment |
ISO |
rat protein in a mouse model |
RGD |
PMID:17895242 |
RGD:10053631 |
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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G |
LOC106627981 |
GBA recombination region |
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IAGP |
ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease |
ClinVar |
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:2117855 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7789963 PMID:7981693 PMID:8160756 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8929950 PMID:9375849 PMID:9554746 PMID:9556036 PMID:10649495 PMID:10714667 PMID:10796875 PMID:11336129 PMID:12482401 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15826241 PMID:16293621 PMID:16967369 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18434642 PMID:18541817 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22388998 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24522292 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25741868 PMID:26096741 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27717005 PMID:27735925 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30941926 PMID:31010158 PMID:31130284 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 More...
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NCBI chr 1:155,233,639...155,240,092
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G |
LOC126861911 |
MED14-independent group 3 enhancer GRCh37_chr14:31961704-31962903 |
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IAGP |
ClinVar Annotator: match by term: Parkinson's disease |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,492,498...31,493,697
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G |
LOC129390617 |
MPRA-validated peak2131 silencer |
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IAGP |
ClinVar Annotator: match by term: Parkinson's disease |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,653,210...31,653,410
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G |
LOC130055450 |
ATAC-STARR-seq lymphoblastoid silent region 5656 |
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IAGP |
ClinVar Annotator: match by term: Parkinson's disease |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,420,011...31,420,130
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G |
LOC130055451 |
ATAC-STARR-seq lymphoblastoid active region 8232 |
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IAGP |
ClinVar Annotator: match by term: Parkinson's disease |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,420,241...31,420,290
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G |
LOC130055452 |
ATAC-STARR-seq lymphoblastoid active region 8233 |
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IAGP |
ClinVar Annotator: match by term: Parkinson's disease |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,420,721...31,420,870
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G |
LOC130055453 |
ATAC-STARR-seq lymphoblastoid active region 8236 |
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IAGP |
ClinVar Annotator: match by term: Parkinson's disease |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,544,372...31,544,521
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G |
LRRK2 |
leucine rich repeat kinase 2 |
susceptibility no_association |
IAGP EXP IEP |
DNA:missense mutations:cds:multiple ClinVar Annotator: match by term: Parkinson Disease, Dominant ClinVar Annotator: match by term: Parkinson disease CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.N1437H (c.4309C>A) (human) DNA:mutation: :p.R1441G (human) DNA:missense mutation:cds:p.R1398H (human) DNA:missense mutations:cds:p.R1628P, p.S1647T, p.G2385R (human) DNA:missense mutation:cds:p.G2019S (human) |
ClinVar CTD RGD |
PMID:16172858 PMID:16633828 PMID:17019612 PMID:17388990 PMID:17659642 PMID:18688798 PMID:18704525 PMID:19357115 PMID:19741132 PMID:19800393 PMID:19915575 PMID:19915576 PMID:20186690 PMID:20205471 PMID:20301387 PMID:22043175 PMID:22612223 PMID:23017109 PMID:23472874 PMID:23628791 PMID:24033266 PMID:25027012 PMID:25149416 PMID:25243190 PMID:25475535 PMID:25631236 PMID:25741868 PMID:26467025 PMID:28103901 PMID:28492532 PMID:21989859 PMID:25639775 PMID:26223426 PMID:20720502 PMID:20669305 PMID:20721916 PMID:21159540 PMID:21167764 PMID:21483109 PMID:21954089 More...
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RGD:5508399, RGD:10450521, RGD:10450518, RGD:5508420, RGD:5508416, RGD:5508415, RGD:5508409, RGD:5508408, RGD:5508406, RGD:5508404 |
NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285
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G |
MAG |
myelin associated glycoprotein |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
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NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807
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G |
MAOA |
monoamine oxidase A |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17449559 |
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NCBI chr X:43,655,006...43,746,817
Ensembl chr X:43,654,907...43,746,817
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G |
MAOB |
monoamine oxidase B |
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ISO EXP IAGP |
protein:increased activity:striatum (rat) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21318773 PMID:17417741 PMID:9129714 |
RGD:2316771, RGD:1358484 |
NCBI chr X:43,766,610...43,882,450
Ensembl chr X:43,766,610...43,882,450
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G |
MAP2 |
microtubule associated protein 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30236862 |
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NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147
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G |
MAP3K5 |
mitogen-activated protein kinase kinase kinase 5 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21815648 |
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NCBI chr 6:136,557,046...136,793,091
Ensembl chr 6:136,557,046...136,793,097
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G |
MAPT |
microtubule associated protein tau |
susceptibility |
IAGP EXP |
DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human) ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease CTD Direct Evidence: marker/mechanism DNA:SNP:intron: (rs8070723) (human) DNA:SNPs:intron:g.38276T>A, g.87443G>A (rs242556, rs10514889) (human) DNA:SNPs, haplotypes: :multiple |
ClinVar CTD RGD |
PMID:19915575 PMID:20711177 PMID:25741868 PMID:26467025 PMID:28492532 PMID:19879020 PMID:22221882 PMID:18785640 PMID:18162161 More...
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RGD:8158095, RGD:8158107, RGD:8158106, RGD:8158096 |
NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
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G |
MAPT-AS1 |
MAPT antisense RNA 1 |
susceptibility |
IAGP |
DNA:SNP:intron: (rs17690703) (human) |
RGD |
PMID:22221882 |
RGD:8158107 |
NCBI chr17:45,843,356...45,895,513
Ensembl chr17:45,799,390...45,895,680
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G |
MGC32805 |
uncharacterized LOC153163 |
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IAGP |
ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive |
ClinVar |
PMID:12761037 PMID:18366718 PMID:21344240 PMID:24033266 PMID:28492532 |
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NCBI chr 5:122,436,497...122,479,087
Ensembl chr 5:122,436,497...122,479,087
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G |
MINAR2 |
membrane integral NOTCH2 associated receptor 2 |
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ISS |
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MouseDO |
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NCBI chr 5:129,748,094...129,766,732
Ensembl chr 5:129,748,094...129,766,732
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G |
MIR1-2 |
microRNA 1-2 |
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IEP |
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RGD |
PMID:21295623 |
RGD:10755488 |
NCBI chr18:21,829,004...21,829,088
Ensembl chr18:21,829,004...21,829,088
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G |
MIR106A |
microRNA 106a |
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IEP |
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RGD |
PMID:25553963 |
RGD:10450788 |
NCBI chr X:134,170,198...134,170,278
Ensembl chr X:134,170,198...134,170,278
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G |
MIR132 |
microRNA 132 |
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IEP |
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RGD |
PMID:25553963 |
RGD:10450788 |
NCBI chr17:2,049,908...2,050,008
Ensembl chr17:2,049,908...2,050,008
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G |
MIR155 |
microRNA 155 |
|
ISO |
RNA:increased expression: plasma extracellular vesicle |
RGD |
PMID:32326590 |
RGD:41404531 |
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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G |
MIR181C |
microRNA 181c |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28770951 |
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NCBI chr19:13,874,699...13,874,808
Ensembl chr19:13,874,699...13,874,808
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G |
MIR19B1 |
microRNA 19b-1 |
|
IEP |
|
RGD |
PMID:22003392 |
RGD:10755479 |
NCBI chr13:91,351,192...91,351,278
Ensembl chr13:91,351,192...91,351,278
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G |
MIR21 |
microRNA 21 |
|
ISO |
RNA:increased expression: plasma extracellular vesicle |
RGD |
PMID:32326590 |
RGD:41404531 |
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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G |
MIR210 |
microRNA 210 |
|
ISO |
RNA:increased expression: plasma extracellular vesicle |
RGD |
PMID:32326590 |
RGD:41404531 |
NCBI chr11:568,089...568,198
Ensembl chr11:568,089...568,198
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G |
MIR22 |
microRNA 22 |
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IEP |
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RGD |
PMID:21295623 |
RGD:10755488 |
NCBI chr17:1,713,903...1,713,987
Ensembl chr17:1,713,903...1,713,987
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G |
MIR29B1 |
microRNA 29b-1 |
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IEP |
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RGD |
PMID:22003392 |
RGD:10755479 |
NCBI chr 7:130,877,459...130,877,539
Ensembl chr 7:130,877,459...130,877,539
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G |
MIR301A |
microRNA 301a |
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IEP |
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RGD |
PMID:22003392 |
RGD:10755479 |
NCBI chr17:59,151,136...59,151,221
Ensembl chr17:59,151,136...59,151,221
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G |
MIR34B |
microRNA 34b |
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IEP |
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RGD |
PMID:21558425 |
RGD:10755477 |
NCBI chr11:111,512,938...111,513,021
Ensembl chr11:111,512,938...111,513,021
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G |
MIR34C |
microRNA 34c |
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IEP |
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RGD |
PMID:21558425 |
RGD:10755477 |
NCBI chr11:111,513,439...111,513,515
Ensembl chr11:111,513,439...111,513,515
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G |
MT-ATP6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
susceptibility |
IAGP |
DNA:SNP:cds:m.9055A>G (human) |
RGD |
PMID:12618962 |
RGD:5490292 |
NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
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G |
MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
no_association |
IAGP IEP |
DNA:missense mutation:cds:m.4216T>C (human) mRNA:decreased expression:substantia nigra, neuron |
RGD |
PMID:11022854 PMID:11506395 PMID:16784756 |
RGD:5148018, RGD:8657117, RGD:5508706 |
NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
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G |
MT-ND2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
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IAGP |
DNA:point mutation: :m.5460G>A (human) DNA:missense mutation::m.5460G>A |
RGD |
PMID:8723226 PMID:10737123 |
RGD:2302313, RGD:5507832 |
NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511
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G |
MT-ND3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
|
IAGP ISO |
DNA:polymorphism:exon:m.10398A>G(human) ClinVar Annotator: match by term: Parkinson disease, resistance to protein: decreased activity: brain: MPTP model of Parkinson disease protein: decreased activity: striatum: rotenone model of Parkinson disease |
ClinVar RGD |
PMID:6343397 PMID:17066297 PMID:15975594 PMID:21291942 PMID:21484267 |
RGD:5491206, RGD:5687692, RGD:5687691 |
NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404
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G |
MT-ND4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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IAGP |
DNA:missense mutations: :11253T>C, 12084C>T (human) |
RGD |
PMID:10737123 |
RGD:5507832 |
NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
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G |
MTA1 |
metastasis associated 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27044752 |
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NCBI chr14:105,419,827...105,470,729
Ensembl chr14:105,419,820...105,470,729
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G |
MTHFR |
methylenetetrahydrofolate reductase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30726997 |
|
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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G |
MTRR |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
susceptibility |
IAGP |
DNA:polymorphism: :1049A>G (human) |
RGD |
PMID:21070756 |
RGD:5508183 |
NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025
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G |
NANOG |
Nanog homeobox |
treatment |
ISO |
mouse gene in a rat model;mRNA, protein:increased expression:embryonic stem cell |
RGD |
PMID:24954161 |
RGD:9681444 |
NCBI chr12:7,789,402...7,799,146
Ensembl chr12:7,787,794...7,799,146
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G |
NAT2 |
N-acetyltransferase 2 |
susceptibility |
IAGP |
DNA:polymorphism |
RGD |
PMID:9343502 |
RGD:2303766 |
NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218
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G |
NCAPG2 |
non-SMC condensin II complex subunit G2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
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NCBI chr 7:158,631,169...158,704,804
Ensembl chr 7:158,631,169...158,704,804
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G |
NDUFA13 |
NADH:ubiquinone oxidoreductase subunit A13 |
|
IEP |
|
RGD |
PMID:26605748 |
RGD:13504667 |
NCBI chr19:19,516,225...19,528,198
Ensembl chr19:19,515,736...19,529,054
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G |
NDUFB8 |
NADH:ubiquinone oxidoreductase subunit B8 |
|
IEP |
|
RGD |
PMID:26605748 |
RGD:13504667 |
NCBI chr10:100,523,729...100,529,923
Ensembl chr10:100,523,740...100,530,000
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G |
NDUFS1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
onset |
ISO |
protein:increased oxidation:brain, mitochondrion (mouse) |
RGD |
PMID:21196577 |
RGD:6484690 |
NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509
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G |
NDUFS4 |
NADH:ubiquinone oxidoreductase subunit S4 |
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ISO |
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RGD |
PMID:21383081 |
RGD:6484691 |
NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338
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G |
NDUFV2 |
NADH:ubiquinone oxidoreductase core subunit V2 |
susceptibility |
IAGP |
DNA:polymorphism: :p.A29V |
RGD |
PMID:9570948 |
RGD:2302386 |
NCBI chr18:9,102,699...9,134,341
Ensembl chr18:9,102,630...9,134,345
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G |
NECTIN2 |
nectin cell adhesion molecule 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
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NCBI chr19:44,846,297...44,889,223
Ensembl chr19:44,846,175...44,889,223
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G |
NEDD8 |
NEDD8 ubiquitin like modifier |
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IEP |
|
RGD |
PMID:12533840 |
RGD:1549458 |
NCBI chr14:24,216,857...24,232,367
Ensembl chr14:24,216,857...24,232,367
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G |
NEFL |
neurofilament light chain |
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IEP |
protein:increased expression:CSF (human) |
RGD |
PMID:29391125 |
RGD:127285384 |
NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
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G |
NGF |
nerve growth factor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
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NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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G |
NGFR |
nerve growth factor receptor |
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IEP |
protein:decreased expression:brain |
RGD |
PMID:8347330 |
RGD:10413896 |
NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
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G |
NOS1 |
nitric oxide synthase 1 |
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IEP EXP IAGP |
RNA, protein:increased expression:neutrophil CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:26383258 PMID:11020342 PMID:11809160 |
RGD:5132632, RGD:1358519 |
NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
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G |
NOS2 |
nitric oxide synthase 2 |
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ISO |
protein:increased expression:striatum (mouse) |
RGD |
PMID:21970803 |
RGD:5509573 |
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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G |
NOX1 |
NADPH oxidase 1 |
ameliorates |
ISO |
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RGD |
PMID:23077033 |
RGD:329961565 |
NCBI chr X:100,843,324...100,874,359
Ensembl chr X:100,843,324...100,874,359
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G |
NQO1 |
NAD(P)H quinone dehydrogenase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17188257 |
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NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668
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G |
NQO2 |
N-ribosyldihydronicotinamide:quinone dehydrogenase 2 |
susceptibility |
IAGP |
DNA:deletion:promoter: (human) |
RGD |
PMID:18314446 |
RGD:11073691 |
NCBI chr 6:2,999,894...3,019,755
Ensembl chr 6:2,987,987...3,019,755
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G |
NR4A1 |
nuclear receptor subfamily 4 group A member 1 |
treatment |
ISO |
compared to wild-type and untreated |
RGD |
PMID:29530712 |
RGD:40924655 |
NCBI chr12:52,022,832...52,059,503
Ensembl chr12:52,022,832...52,059,507
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G |
NR4A2 |
nuclear receptor subfamily 4 group A member 2 |
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IAGP ISS |
DNA:insertion:intron:g.7048_7049insG (human) OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive |
MouseDO ClinVar RGD |
PMID:11914402 |
RGD:1358553 |
NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348
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G |
NTSR1 |
neurotensin receptor 1 |
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IEP |
|
RGD |
PMID:7700529 |
RGD:9743906 |
NCBI chr20:62,708,836...62,762,771
Ensembl chr20:62,708,836...62,762,771
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G |
NUBPL |
NUBP iron-sulfur cluster assembly factor, mitochondrial |
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IAGP |
ClinVar Annotator: match by term: Parkinson's disease |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,561,404...31,861,224
Ensembl chr14:31,489,956...31,861,224
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G |
NUBPL-DT |
NUBPL divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Parkinson's disease |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr14:31,553,499...31,561,331
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G |
OGG1 |
8-oxoguanine DNA glycosylase |
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IEP |
protein:increased expression:substantia nigra, neuron |
RGD |
PMID:15841414 |
RGD:8657142 |
NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
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G |
OPTN |
optineurin |
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ISO |
protein:increased expression:substantia nigra (rat) |
RGD |
PMID:27473339 |
RGD:13432580 |
NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308
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G |
ORC6 |
origin recognition complex subunit 6 |
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IAGP |
ClinVar Annotator: match by term: Parkinson Disease, Dominant |
ClinVar |
PMID:25741868 |
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NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394
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G |
PARK7 |
Parkinsonism associated deglycase |
onset |
IAGP EXP ISO |
DNA:missense mutation, deletion: :L166P ClinVar Annotator: match by term: Parkinson Disease, Recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:12953260 PMID:15784737 PMID:17010972 PMID:20423725 PMID:20800516 PMID:20981092 PMID:22043175 PMID:22898350 PMID:23037695 PMID:23792957 PMID:25149416 PMID:26467025 PMID:27884173 PMID:28492532 PMID:12851414 PMID:24157858 PMID:23766857 More...
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RGD:1601073, RGD:12880446, RGD:10450523 |
NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505
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G |
PARP1 |
poly(ADP-ribose) polymerase 1 |
susceptibility no_association |
IAGP |
DNA:polymorphisms:promoter, exon:g.-410C>T, g.845_846dupAC (human) DNA:snps:multiple (human) |
RGD |
PMID:17362997 PMID:21767974 |
RGD:5510024, RGD:5510021 |
NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
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G |
PENK |
proenkephalin |
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ISO |
mRNA:increased expression:striatum: |
RGD |
PMID:11501038 |
RGD:10003114 |
NCBI chr 8:56,440,957...56,446,641
Ensembl chr 8:56,436,674...56,446,671
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G |
PHACTR2 |
phosphatase and actin regulator 2 |
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IAGP |
DNA: snp: intron: rs11155313 |
RGD |
PMID:19429005 |
RGD:6483095 |
NCBI chr 6:143,536,878...143,831,185
Ensembl chr 6:143,536,845...143,831,185
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G |
PINK1 |
PTEN induced kinase 1 |
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IAGP ISO EXP |
ClinVar Annotator: match by term: Parkinson Disease, Recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:17010972 PMID:21366594 PMID:22043175 PMID:24374061 PMID:25149416 PMID:25741868 PMID:28492532 PMID:30734931 PMID:26223426 PMID:25421206 PMID:24157858 PMID:25639775 More...
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RGD:10450518, RGD:11560775, RGD:12880446, RGD:10450521 |
NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511
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G |
PINK1-AS |
PINK1 antisense RNA |
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IAGP |
ClinVar Annotator: match by term: Parkinson Disease, Recessive |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:20,642,657...20,652,193
Ensembl chr 1:20,642,657...20,652,193
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G |
PITX3 |
paired like homeodomain 3 |
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ISO ISS |
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 |
MouseDO RGD |
PMID:18573342 |
RGD:11535079 |
NCBI chr10:102,230,189...102,241,512
Ensembl chr10:102,230,189...102,241,512
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G |
PLA2G6 |
phospholipase A2 group VI |
onset no_association |
IAGP |
DNA:missense muations, nonsense mutation: :p.F72L, p.Q452X, p.R635Q (human) DNA:missense mutation:cds:p.P806R (c.2417C>G) (human) |
RGD |
PMID:20938027 PMID:21368765 |
RGD:6482733, RGD:6482734 |
NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
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G |
POLG |
DNA polymerase gamma, catalytic subunit |
onset |
IAGP |
associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: : associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutation:cds:p.K512M(human) DNA:missense mutations:exons:p.R853W,p.G737R(human) |
RGD |
PMID:15351195 PMID:23865558 PMID:16634032 |
RGD:8694175, RGD:8694203, RGD:8694201 |
NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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G |
PPARGC1A |
PPARG coactivator 1 alpha |
onset |
IAGP ISS EXP IEP |
DNA:SNPs:intron, 3' utr: (rs2970848, rs6821591) (human) CTD Direct Evidence: marker/mechanism |
MouseDO CTD RGD |
PMID:30236862 PMID:21595954 PMID:21376232 |
RGD:6484270, RGD:6484271 |
NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
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G |
PPP1R9B |
protein phosphatase 1 regulatory subunit 9B |
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ISO |
protein:altered localization:striate nucleus (rat) |
RGD |
PMID:18372251 |
RGD:10043801 |
NCBI chr17:50,133,737...50,150,677
Ensembl chr17:50,133,737...50,150,677
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G |
PPP2CA |
protein phosphatase 2 catalytic subunit alpha |
|
IEP |
protein:decreased tyrosine phosphorylation:brain (human) |
RGD |
PMID:24395787 |
RGD:8693390 |
NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,194,035...134,226,073
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G |
PRKN |
parkin RBR E3 ubiquitin protein ligase |
treatment |
IAGP EXP ISO IEP IMP |
DNA:deletions:exons: (human) CTD Direct Evidence: marker/mechanism protein:increased tyrosine-phosphorylation:substantia nigra, striatum, DNA:mutations:multiple (human) |
CTD RGD |
PMID:12588799 PMID:15198987 PMID:15882845 PMID:16573651 PMID:17010972 PMID:19946270 PMID:22043175 PMID:22841634 PMID:23628791 PMID:24582596 PMID:25149416 PMID:25631236 PMID:28284907 PMID:9560156 PMID:28526446 PMID:28583715 PMID:28695462 PMID:25639775 PMID:26223426 PMID:20823226 PMID:16914382 PMID:12629236 More...
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RGD:9693725, RGD:13432567, RGD:13432563, RGD:13432207, RGD:10450521, RGD:10450518, RGD:8693409, RGD:10413859, RGD:737763 |
NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
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G |
PTN |
pleiotrophin |
treatment |
ISO |
|
RGD |
PMID:19615368 |
RGD:10044022 |
NCBI chr 7:137,227,341...137,343,733
Ensembl chr 7:137,227,341...137,343,774
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G |
RPL14 |
ribosomal protein L14 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18353766 |
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NCBI chr 3:40,457,339...40,468,587
Ensembl chr 3:40,457,292...40,468,587
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G |
RPL23A |
ribosomal protein L23a |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18353766 |
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NCBI chr17:28,719,985...28,724,359
Ensembl chr17:28,719,985...28,724,359
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G |
RPL6 |
ribosomal protein L6 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18353766 |
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NCBI chr12:112,405,181...112,418,835
Ensembl chr12:112,405,189...112,418,838
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G |
RPS8 |
ribosomal protein S8 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18353766 |
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NCBI chr 1:44,775,540...44,778,779
Ensembl chr 1:44,775,251...44,778,779
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G |
RRN3 |
RRN3 homolog, RNA polymerase I transcription factor |
|
ISS |
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 |
MouseDO |
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NCBI chr16:15,060,022...15,094,335
Ensembl chr16:15,060,033...15,094,311
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G |
S100B |
S100 calcium binding protein B |
|
ISO IMP |
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RGD |
PMID:21725169 PMID:21402140 |
RGD:5508763, RGD:5508766 |
NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
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G |
SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
|
IEP |
protein:decreased expression:substantia nigra, neuron |
RGD |
PMID:26605748 |
RGD:13504667 |
NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
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G |
SEPTIN14 |
septin 14 |
susceptibility |
IAGP |
DNA:SNPs:promoter:rs10241628, rs11981883, rs77231105 (human) |
RGD |
PMID:27115672 |
RGD:13504669 |
NCBI chr 7:55,793,540...55,862,752
Ensembl chr 7:55,793,540...55,862,755
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G |
SEPTIN4 |
septin 4 |
|
IEP |
|
RGD |
PMID:12695511 |
RGD:13504670 |
NCBI chr17:58,520,256...58,544,328
Ensembl chr17:58,520,250...58,544,368
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G |
SERPINF1 |
serpin family F member 1 |
severity |
IEP |
protein:increased expression:serum, extracellular exosome (human) |
RGD |
PMID:31593110 |
RGD:27226691 |
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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G |
SLC11A2 |
solute carrier family 11 member 2 |
|
IAGP IEP |
DNA:polymorphism:cds:1254T>C(human) |
RGD |
PMID:21777657 PMID:19011085 |
RGD:5688403, RGD:5688713 |
NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
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G |
SLC18A2 |
solute carrier family 18 member A2 |
resistance |
IAGP EXP IEP ISO |
DNA:snps:5' utr:g.-103C>A, g.-74C>T, g.-62G>A (human) CTD Direct Evidence: marker/mechanism protein:decreased expression:putamen, caudate nucleus, striatum (human) mRNA:decreased expression:substantia nigra (rat) |
CTD RGD |
PMID:16112329 PMID:34774656 PMID:16339215 PMID:16421508 PMID:21291984 PMID:16269145 PMID:11463816 More...
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RGD:5131165, RGD:5131167, RGD:5131086, RGD:5129143, RGD:5131163 |
NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430
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G |
SLC2A14 |
solute carrier family 2 member 14 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
|
NCBI chr12:7,812,514...7,891,196
Ensembl chr12:7,812,512...7,891,148
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G |
SLC30A10 |
solute carrier family 30 member 10 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25149416 |
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NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018
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G |
SLC38A2 |
solute carrier family 38 member 2 |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:35728354 |
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NCBI chr12:46,358,188...46,372,773
Ensembl chr12:46,358,188...46,372,773
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G |
SLC6A3 |
solute carrier family 6 member 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9763484 PMID:16112329 PMID:16963468 PMID:19590691 |
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NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440
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G |
SNCA |
synuclein alpha |
|
IMP IAGP EXP IEP IDA |
human gene in a mouse model ClinVar Annotator: match by term: Parkinson Disease, Dominant CTD Direct Evidence: marker/mechanism protein:decreased expression:cerebral spinal fluid: DNA:missense mutation:cds:p.S129A(human) DNA:mutation:cds:G209A(human) DNA:mutation:cds:p.A30P(human) protein:increased expression:astrocyte, oligodendroglial cell |
ClinVar CTD RGD |
PMID:11535288 PMID:12151787 PMID:12732244 PMID:12885775 PMID:14535945 PMID:15099020 PMID:17131421 PMID:17690948 PMID:18322262 PMID:18353766 PMID:18841091 PMID:19915575 PMID:19915576 PMID:20664293 PMID:20711177 PMID:21245015 PMID:21892157 PMID:22043175 PMID:22110584 PMID:22166454 PMID:22185909 PMID:22355530 PMID:23427326 PMID:23457019 PMID:24047453 PMID:24509835 PMID:24752924 PMID:24833599 PMID:24936070 PMID:25064009 PMID:25106480 PMID:25149416 PMID:25393002 PMID:25475535 PMID:25631236 PMID:25741868 PMID:26341711 PMID:28492532 PMID:29398121 PMID:30528390 PMID:10678833 PMID:18625222 PMID:18178617 PMID:9197268 PMID:9462735 PMID:10651022 PMID:17448146 More...
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RGD:1302527, RGD:13506723, RGD:13506646, RGD:6480197, RGD:6480196, RGD:6480094, RGD:6478794 |
NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
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SNCA-AS1 |
SNCA antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Parkinson Disease, Dominant |
ClinVar |
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NCBI chr 4:89,836,401...89,841,991
Ensembl chr 4:89,836,408...89,841,978
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SNCAIP |
synuclein alpha interacting protein |
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IAGP |
ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive ClinVar Annotator: match by term: Parkinson's disease |
ClinVar |
PMID:12761037 PMID:18366718 PMID:21344240 PMID:24033266 PMID:28492532 |
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NCBI chr 5:122,311,353...122,464,219
Ensembl chr 5:122,311,354...122,464,219
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G |
SNCB |
synuclein beta |
onset |
IAGP IEP |
DNA:SNP: :rs1352303(human) protein:increased expression:hippocampus |
RGD |
PMID:17556099 PMID:10557341 |
RGD:6478793, RGD:6480095 |
NCBI chr 5:176,620,082...176,630,534
Ensembl chr 5:176,620,082...176,630,556
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G |
SNCG |
synuclein gamma |
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IEP |
protein:increased expression:hippocampus |
RGD |
PMID:10557341 |
RGD:6480095 |
NCBI chr10:86,955,759...86,963,258
Ensembl chr10:86,958,599...86,963,258
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G |
SOD1 |
superoxide dismutase 1 |
treatment |
IMP EXP |
human gene in a rat model CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:15824117 PMID:16353238 PMID:21318773 PMID:16353238 |
RGD:8655933 |
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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G |
SOD2 |
superoxide dismutase 2 |
susceptibility |
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17188257 PMID:18353766 PMID:25279756 PMID:11161607 |
RGD:13464352 |
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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G |
SPR |
sepiapterin reductase |
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ISS |
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 |
MouseDO |
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NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,382...72,892,158
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G |
SRRM2 |
serine/arginine repetitive matrix 2 |
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IEP |
mRNA:splice variants:substantia nigra, amygdala, peripheral blood mononuclear cell (human) |
RGD |
PMID:20161708 |
RGD:11038728 |
NCBI chr16:2,752,638...2,771,412
Ensembl chr16:2,752,626...2,772,538
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G |
SYNJ1 |
synaptojanin 1 |
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IAGP |
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RGD |
PMID:25639775 |
RGD:10450521 |
NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040
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G |
TALDO1 |
transaldolase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23233872 |
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NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012
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G |
TARDBP |
TAR DNA binding protein |
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IAGP IEP |
DNA:mutation:cds:p.A382T (human) |
RGD |
PMID:21667065 PMID:20551689 |
RGD:5687172, RGD:5687183 |
NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528
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G |
TCL1B |
TCL1 family AKT coactivator B |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
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NCBI chr14:95,686,426...95,692,628
Ensembl chr14:95,686,426...95,692,628
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G |
TCN2 |
transcobalamin 2 |
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IMP |
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RGD |
PMID:20027219 |
RGD:11060125 |
NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271
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G |
TFAM |
transcription factor A, mitochondrial |
susceptibility no_association |
IAGP ISS |
DNA:SNP:intron:IVS4+113A>G (rs2306604) (human) OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 DNA:missense mutation, SNP:exon, intron:p.S12T, IVS4+113A>G (rs1937, rs2306604) (human) DNA:missense mutation:exon:p.S12T (rs1937) (human) |
MouseDO RGD |
PMID:19925850 PMID:17537576 PMID:18248889 |
RGD:14389730, RGD:6771185, RGD:6771184 |
NCBI chr10:58,385,410...58,399,220
Ensembl chr10:58,385,345...58,399,220
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G |
TH |
tyrosine hydroxylase |
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ISO EXP IEP IMP |
CTD Direct Evidence: marker/mechanism protein:decreased expression:striatum (human) human gene in a rat model protein:decreased expression:midbrain, neuron (rat) protein:decreased expression:substantia nigra (mouse) |
CTD RGD |
PMID:30236862 PMID:2573072 PMID:15857400 PMID:9853519 PMID:21376343 PMID:21323909 More...
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RGD:5129120, RGD:2289955, RGD:5129121, RGD:5128607, RGD:5128616 |
NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
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G |
TMEM230 |
transmembrane protein 230 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27270108 |
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NCBI chr20:5,059,116...5,113,076
Ensembl chr20:5,068,232...5,113,103
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G |
TNF |
tumor necrosis factor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21318773 |
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NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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G |
TNFRSF1B |
TNF receptor superfamily member 1B |
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ISO |
mRNA:decreased expression:midbrain, dopaminergic neuron (mouse) |
RGD |
PMID:19780901 |
RGD:5130931 |
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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G |
TNK2 |
tyrosine kinase non receptor 2 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease |
ClinVar |
PMID:23686771 PMID:25741868 PMID:26595808 PMID:28492532 |
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NCBI chr 3:195,863,364...195,908,551
Ensembl chr 3:195,863,364...195,911,945
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G |
TNR |
tenascin R |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease |
ClinVar |
PMID:26122175 PMID:26595808 PMID:28492532 PMID:33278868 |
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NCBI chr 1:175,315,194...175,743,595
Ensembl chr 1:175,315,194...175,743,595
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G |
TRPM2 |
transient receptor potential cation channel subfamily M member 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27957685 |
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NCBI chr21:44,353,621...44,442,644
Ensembl chr21:44,350,163...44,443,081
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G |
UCHL1 |
ubiquitin C-terminal hydrolase L1 |
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IAGP |
ClinVar Annotator: match by term: Parkinson Disease, Dominant |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455
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VDAC1 |
voltage dependent anion channel 1 |
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IEP |
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RGD |
PMID:24825319 |
RGD:13504672 |
NCBI chr 5:133,971,871...134,114,540
Ensembl chr 5:133,971,871...134,004,975
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G |
VDR |
vitamin D receptor |
onset |
IAGP |
DNA:polymorphisms: :rs4334089, rs2853559(human) |
RGD |
PMID:21309754 |
RGD:13217419 |
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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G |
VIP |
vasoactive intestinal peptide |
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IEP |
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RGD |
PMID:19476518 |
RGD:5685606 |
NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765
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G |
VPS13C |
vacuolar protein sorting 13 homolog C |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease |
ClinVar |
PMID:26942284 |
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NCBI chr15:61,852,389...62,060,447
Ensembl chr15:61,852,389...62,060,473
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G |
VPS35 |
VPS35 retromer complex component |
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IAGP ISS EXP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parkinson Disease, Dominant |
MouseDO CTD ClinVar RGD |
PMID:25149416 PMID:25741868 PMID:26223426 PMID:25701813 PMID:25639775 |
RGD:10450518, RGD:10450845, RGD:10450521 |
NCBI chr16:46,656,132...46,689,178
Ensembl chr16:46,656,132...46,689,518
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G |
LOC129389225 |
MPRA-validated peak5070 silencer |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1 |
ClinVar |
PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 PMID:17251522 PMID:17625105 PMID:18195271 PMID:18852445 PMID:18852448 PMID:18852449 More...
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NCBI chr 4:89,898,305...89,898,505
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MMRN1 |
multimerin 1 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1 |
ClinVar |
PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 PMID:17251522 PMID:17625105 PMID:18195271 PMID:18852445 PMID:18852448 PMID:18852449 More...
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NCBI chr 4:89,879,511...89,954,614
Ensembl chr 4:89,879,532...89,954,629
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SNCA |
synuclein alpha |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1 OMIM:168601 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9197268 PMID:9462735 PMID:9499430 PMID:9506559 PMID:9827625 PMID:10417297 PMID:11261505 PMID:11376188 PMID:12062037 PMID:14593171 PMID:14755720 PMID:15144854 PMID:15451224 PMID:15451225 PMID:16358335 PMID:17251522 PMID:17489854 PMID:17625105 PMID:18195271 PMID:18704525 PMID:18852445 PMID:18852448 PMID:18852449 PMID:19632874 PMID:20340137 PMID:20437567 PMID:21252228 PMID:21559878 PMID:23404372 PMID:23427326 PMID:23457019 PMID:23526723 PMID:24047453 PMID:24158904 PMID:24158909 PMID:24313877 PMID:24315198 PMID:24728187 PMID:24746362 PMID:24936070 PMID:24984882 PMID:25268550 PMID:25393002 PMID:25741868 PMID:25892596 PMID:26306801 PMID:26341711 PMID:26799529 PMID:26858591 PMID:27066564 PMID:27393118 PMID:28492532 PMID:29398121 PMID:30528390 PMID:31267130 PMID:33617693 More...
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NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
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G |
SNCA-AS1 |
SNCA antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1 |
ClinVar |
PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 PMID:17251522 PMID:17625105 PMID:18195271 PMID:18852445 PMID:18852448 PMID:18852449 More...
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NCBI chr 4:89,836,401...89,841,991
Ensembl chr 4:89,836,408...89,841,978
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G |
GIGYF2 |
GRB10 interacting GYF protein 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Parkinson disease 11 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:18358451 PMID:18923002 PMID:19250854 PMID:19279319 PMID:19449032 PMID:24033266 PMID:25326637 PMID:25741868 More...
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NCBI chr 2:232,697,331...232,860,605
Ensembl chr 2:232,697,299...232,860,605
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G |
AUP1 |
AUP1 lipid droplet regulating VLDL assembly factor |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease 13 |
ClinVar |
PMID:18401856 PMID:18790661 |
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NCBI chr 2:74,526,652...74,529,706
Ensembl chr 2:74,526,645...74,529,760
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G |
HTRA2 |
HtrA serine peptidase 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Parkinson disease 13, susceptibility to CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to |
ClinVar CTD OMIM |
PMID:15961413 PMID:18364387 PMID:18401856 PMID:18790661 PMID:19118185 PMID:21163861 PMID:21338583 PMID:21701785 PMID:25422467 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350
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LOC129934140 |
ATAC-STARR-seq lymphoblastoid active region 16072 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to |
ClinVar |
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G |
LOC129934143 |
ATAC-STARR-seq lymphoblastoid active region 16075 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to |
ClinVar |
PMID:28492532 |
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G |
LOXL3 |
lysyl oxidase like 3 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease 13 |
ClinVar |
PMID:15961413 PMID:18364387 PMID:18790661 PMID:19118185 PMID:21163861 PMID:25422467 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:74,532,258...74,555,702
Ensembl chr 2:74,532,258...74,555,690
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PLA2G6 |
phospholipase A2 group VI |
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IAGP ISS EXP |
ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET ClinVar Annotator: match by term: Autosomal recessive Parkinson disease 14 OMIM:612953 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:2668131 PMID:16783378 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:18981035 PMID:20186954 PMID:20301718 PMID:20619503 PMID:20669327 PMID:20886109 PMID:20938027 PMID:21368765 PMID:21700586 PMID:21812034 PMID:22213678 PMID:23182313 PMID:24088041 PMID:24745848 PMID:25660576 PMID:25741868 PMID:26001724 PMID:26196026 PMID:26467025 PMID:26633545 PMID:26668131 PMID:26755131 PMID:27268037 PMID:27942883 PMID:28492532 PMID:29395073 PMID:29472584 PMID:29859652 PMID:29913018 PMID:30065071 PMID:30232368 PMID:30302010 PMID:30619057 PMID:32581362 PMID:32707456 PMID:32771225 PMID:32860008 PMID:33279242 PMID:33619735 PMID:34168672 PMID:34272103 PMID:34622992 More...
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NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
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G |
SLC39A14 |
solute carrier family 39 member 14 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36152728 |
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NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
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G |
FBXO7 |
F-box protein 7 |
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IAGP EXP |
ClinVar Annotator: match by term: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome ClinVar Annotator: match by term: Parkinson disease 15 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:9536098 PMID:17576681 PMID:18513678 PMID:19038853 PMID:20603184 PMID:21347293 PMID:23352116 PMID:23933751 PMID:24112787 PMID:25029497 PMID:25085748 PMID:25169713 PMID:25174650 PMID:25741868 PMID:26310625 PMID:26882974 PMID:27294386 PMID:27503909 PMID:28492532 PMID:30502028 More...
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NCBI chr22:32,474,811...32,498,829
Ensembl chr22:32,474,676...32,498,829
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G |
MYLK3 |
myosin light chain kinase 3 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease 17 |
ClinVar |
PMID:28492532 |
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NCBI chr16:46,702,282...46,763,246
Ensembl chr16:46,702,282...46,790,407
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G |
ORC6 |
origin recognition complex subunit 6 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease 17 |
ClinVar |
PMID:28492532 |
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NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394
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G |
VPS35 |
VPS35 retromer complex component |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Parkinson disease 17 OMIM:614203 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:9536098 PMID:17576681 PMID:18342564 PMID:21763482 PMID:21763483 PMID:22517097 PMID:22801713 PMID:22991136 PMID:23125461 PMID:23408866 PMID:25288323 PMID:25533483 PMID:25741868 PMID:26251041 PMID:26321632 PMID:27385586 PMID:28166811 PMID:28492532 PMID:28796472 PMID:28862745 More...
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NCBI chr16:46,656,132...46,689,178
Ensembl chr16:46,656,132...46,689,518
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G |
DNAJC6 |
DnaJ heat shock protein family (Hsp40) member C6 |
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IAGP EXP |
ClinVar Annotator: match by term: Parkinson disease 19a, juvenile-onset ClinVar Annotator: match by term: Juvenile onset Parkinson disease 19A CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parkinson disease 19B, early-onset ClinVar Annotator: match by term: Parkinson disease 19b, early-onset |
ClinVar CTD OMIM |
PMID:2256350 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22563501 PMID:23211418 PMID:24220513 PMID:25640679 PMID:25741868 PMID:26528954 PMID:26703368 PMID:28191889 PMID:28492532 PMID:31737044 PMID:32214227 PMID:32472658 PMID:32662538 PMID:33983693 More...
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NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871
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G |
LOC105378098 |
uncharacterized LOC105378098 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:161,470,977...161,484,045
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G |
LOC121132714 |
Sharpr-MPRA regulatory region 4750 |
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IAGP |
ClinVar Annotator: match by term: Parkinson disease 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:161,356,797...161,357,091
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G |
LOC123881358 |
Sharpr-MPRA regulatory region 5576 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:161,618,837...161,619,131
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G |
LOC126859868 |
MED14-independent group 3 enhancer GRCh37_chr6:162074817-162076016 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:161,653,785...161,654,984
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G |
LOC126859869 |
MED14-independent group 3 enhancer GRCh37_chr6:162484237-162485436 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 |
ClinVar |
PMID:9560156 |
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NCBI chr 6:162,063,205...162,064,404
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G |
LOC126859870 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:162520224-162521423 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 |
ClinVar |
PMID:9560156 |
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NCBI chr 6:162,099,192...162,100,391
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G |
LOC126859871 |
MED14-independent group 3 enhancer GRCh37_chr6:162621359-162622558 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 |
ClinVar |
PMID:7565830 PMID:9560156 PMID:9851438 PMID:10072423 PMID:10319889 PMID:10824074 PMID:10939576 PMID:10983716 PMID:11009195 PMID:11405814 PMID:12975291 PMID:15254940 PMID:16049031 PMID:16086186 PMID:17415800 PMID:18413468 | |