RGD DISEASE ONTOLOGY - ANNOTATIONS |
|
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.
|
Term: | Parkinsonism |
|
Accession: | DOID:0080855
|
browse the term
|
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 |
|
|
|
G |
Abat |
4-aminobutyrate aminotransferase |
treatment |
IEP |
|
RGD |
PMID:22634324 |
RGD:9588554 |
NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
|
|
G |
Abcc8 |
ATP binding cassette subfamily C member 8 |
|
IEP |
|
RGD |
PMID:15857625 |
RGD:1598645 |
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
|
|
G |
Abcc9 |
ATP binding cassette subfamily C member 9 |
|
IEP |
|
RGD |
PMID:15857625 |
RGD:1598645 |
NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
|
|
G |
Adcyap1 |
adenylate cyclase activating polypeptide 1 |
|
IDA |
|
RGD |
PMID:16888218 |
RGD:2325295 |
NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
|
|
G |
Aldh1a1 |
aldehyde dehydrogenase 1 family, member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25045800 |
|
NCBI chr 1:218,000,470...218,152,962
Ensembl chr 1:218,042,127...218,152,961
|
|
G |
Aldh1a2 |
aldehyde dehydrogenase 1 family, member A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25045800 |
|
NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107
|
|
G |
Ang |
angiogenin |
|
ISO |
|
RGD |
PMID:21091473 |
RGD:6892711 |
NCBI chr15:24,312,711...24,323,361
|
|
G |
Apaf1 |
apoptotic peptidase activating factor 1 |
treatment |
ISO |
|
RGD |
PMID:11535810 |
RGD:13503334 |
NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540
|
|
G |
Aqp4 |
aquaporin 4 |
severity |
ISO |
|
RGD |
PMID:21255222 |
RGD:5148006 |
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
|
|
G |
Atp13a2 |
ATPase cation transporting 13A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23046578 |
|
NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
|
|
G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15260953 |
|
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
|
|
G |
Bad |
BCL2-associated agonist of cell death |
|
IDA |
|
RGD |
PMID:23251488 |
RGD:10053712 |
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
|
|
G |
Bdnf |
brain-derived neurotrophic factor |
treatment |
ISO |
|
RGD |
PMID:16018990 |
RGD:8657066 |
NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615
|
|
G |
Becn1 |
beclin 1 |
treatment |
ISO IEP |
|
RGD |
PMID:19864570 PMID:25424835 |
RGD:6483312, RGD:11558014 |
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
|
|
G |
Casp3 |
caspase 3 |
treatment |
IDA IEP ISO |
|
RGD |
PMID:28881616 PMID:27016191 PMID:28338241 |
RGD:13503337, RGD:13503339, RGD:13503338 |
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
|
|
G |
Casp9 |
caspase 9 |
treatment |
IEP |
|
RGD |
PMID:26612350 |
RGD:13503344 |
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
|
|
G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
|
RGD |
PMID:17258864 |
RGD:5683893 |
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
|
|
G |
Cnr1 |
cannabinoid receptor 1 |
|
IMP |
|
RGD |
PMID:19414037 |
RGD:2314672 |
NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
|
|
G |
Comt |
catechol-O-methyltransferase |
|
IMP |
|
RGD |
PMID:15698633 |
RGD:2289785 |
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
|
|
G |
Csf1r |
colony stimulating factor 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Parkinsonian disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
|
|
G |
Csf2 |
colony stimulating factor 2 |
|
IDA |
|
RGD |
PMID:21291297 |
RGD:5131508 |
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
|
|
G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
IEP |
|
RGD |
PMID:19368990 |
RGD:4891964 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
|
|
G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
IMP |
|
RGD |
PMID:19368990 |
RGD:4891964 |
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
|
|
G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
mRNA:decreased expression:striatum |
RGD |
PMID:18374908 |
RGD:5147675 |
NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
|
|
G |
Dctn1 |
dynactin subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parkinsonian disorder |
CTD ClinVar |
PMID:19136952 PMID:25741868 PMID:28492532 PMID:28518168 PMID:29525180 PMID:32461654 More...
|
|
NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
|
|
G |
Ddc |
dopa decarboxylase |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16269145 |
|
NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
|
|
G |
Drd2 |
dopamine receptor D2 |
|
IDA ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:9171869 PMID:12476322 PMID:15469457 PMID:22126770 |
RGD:6907448 |
NCBI chr 8:58,605,403...58,669,339
Ensembl chr 8:49,708,927...49,772,875
|
|
G |
Drd3 |
dopamine receptor D3 |
|
IMP |
|
RGD |
PMID:12535962 |
RGD:1358605 |
NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596
|
|
G |
Egfr |
epidermal growth factor receptor |
|
IEP |
protein:decreased expression:striatum |
RGD |
PMID:15857400 |
RGD:2289955 |
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
|
|
G |
En1 |
engrailed homeobox 1 |
|
ISO |
|
RGD |
PMID:17015829 |
RGD:5687199 |
NCBI chr13:31,750,892...31,756,477
Ensembl chr13:31,751,545...31,755,943
|
|
G |
En2 |
engrailed homeobox 2 |
|
ISO |
|
RGD |
PMID:17015829 |
RGD:5687199 |
NCBI chr 4:7,221,096...7,226,943
Ensembl chr 4:7,221,096...7,226,943
|
|
G |
Eno2 |
enolase 2 |
|
IEP |
|
RGD |
PMID:17532790 |
RGD:2293747 |
NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
|
|
G |
Esr1 |
estrogen receptor 1 |
|
IDA |
|
RGD |
PMID:21420980 |
RGD:8553241 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
|
|
G |
Fgf2 |
fibroblast growth factor 2 |
treatment |
ISO |
|
RGD |
PMID:27228974 |
RGD:13801017 |
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
|
|
G |
Fkbp1a |
FKBP prolyl isomerase 1A |
|
IEP |
mRNA, protein:increased expression:brain |
RGD |
PMID:17877381 |
RGD:2302074 |
NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743
|
|
G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29886133 |
|
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
|
|
G |
Gba1 |
glucosylceramidase beta 1 |
severity |
ISO |
DNA:missense mutations:cds:multiple (human) ClinVar Annotator: match by term: Parkinsonian disorder | 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:3353383 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...
|
RGD:5508426 |
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
|
|
G |
Gch1 |
GTP cyclohydrolase 1 |
treatment |
IMP ISO |
|
RGD |
PMID:25592335 PMID:15684695 PMID:12451130 PMID:16708545 PMID:23831692 |
RGD:329970292, RGD:1580026, RGD:628489, RGD:401700385, RGD:401700381 |
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
|
|
G |
Gdnf |
glial cell derived neurotrophic factor |
treatment |
IEP ISO IDA |
protein:decreased expression:brain CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:9266731 PMID:12213621 PMID:22186119 PMID:27286696 PMID:21147986 PMID:29372975 PMID:16018990 PMID:21865882 More...
|
RGD:5686884, RGD:405878071, RGD:405878069, RGD:405878061, RGD:8657066, RGD:6218962 |
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
|
|
G |
Gfra1 |
GDNF family receptor alpha 1 |
|
IMP IEP |
mRNA:altered expression:brain |
RGD |
PMID:21865882 PMID:12210101 |
RGD:6218962, RGD:6218972 |
NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
|
|
G |
Gfra2 |
GDNF family receptor alpha 2 |
|
IEP |
mRNA:decreased expression:brain |
RGD |
PMID:12210101 |
RGD:6218972 |
NCBI chr15:45,941,841...46,033,715
Ensembl chr15:45,941,828...46,033,714
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
treatment |
IDA |
|
RGD |
PMID:23783886 |
RGD:8662444 |
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
|
|
G |
Gnal |
G protein subunit alpha L |
|
ISO |
|
RGD |
PMID:22539851 |
RGD:13513924 |
NCBI chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599
|
|
G |
Grm8 |
glutamate metabotropic receptor 8 |
|
IDA |
|
RGD |
PMID:22546615 |
RGD:6771180 |
NCBI chr 4:55,805,762...56,731,690
Ensembl chr 4:55,805,955...56,730,831
|
|
G |
Grn |
granulin precursor |
|
ISO |
ClinVar Annotator: match by term: Parkinsonian disorder |
ClinVar |
|
|
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
|
|
G |
Gsk3a |
glycogen synthase kinase 3 alpha |
|
IEP |
protein:decreased expression:striatum |
RGD |
PMID:18805403 |
RGD:10401814 |
NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
|
|
G |
Gsr |
glutathione-disulfide reductase |
treatment |
IEP ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:22721943 PMID:20951685 |
RGD:5128840 |
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
|
|
G |
Hmox1 |
heme oxygenase 1 |
treatment |
IEP |
|
RGD |
PMID:24169105 |
RGD:10755712 |
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
|
|
G |
Hspa1a |
heat shock protein family A (Hsp70) member 1A |
|
ISO |
|
RGD |
PMID:15585408 |
RGD:5147599 |
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
|
|
G |
Hspa9 |
heat shock protein family A (Hsp70) member 9 |
|
IEP |
protein:decreased expression:striatum |
RGD |
PMID:21542017 |
RGD:6784518 |
NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
|
|
G |
Htra2 |
HtrA serine peptidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26558463 |
|
NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
|
|
G |
Il1b |
interleukin 1 beta |
|
IMP |
protein:increased expression:hypothalamus |
RGD |
PMID:17520785 |
RGD:1626658 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
|
|
G |
Kcnj11 |
potassium inwardly-rectifying channel, subfamily J, member 11 |
|
IEP |
mRNA, protein:increased expression:prefrontal cortex, striatum, hippocampus (rat) |
RGD |
PMID:15857625 |
RGD:1598645 |
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
|
|
G |
Kcnj8 |
potassium inwardly-rectifying channel, subfamily J, member 8 |
|
IEP |
mRNA, protein:increased expression:striatum, hippocampus (rat) |
RGD |
PMID:15857625 |
RGD:1598645 |
NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603
|
|
G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23046578 PMID:25017139 PMID:26558463 PMID:20729864 |
RGD:5508414 |
NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
|
|
G |
Lyn |
LYN proto-oncogene, Src family tyrosine kinase |
|
IEP |
|
RGD |
PMID:16529858 |
RGD:1581410 |
NCBI chr 5:16,639,512...16,755,501
Ensembl chr 5:16,639,466...16,756,868
|
|
G |
Manf |
mesencephalic astrocyte-derived neurotrophic factor |
|
ISO |
|
RGD |
PMID:19641128 |
RGD:2325813 |
NCBI chr 8:107,500,856...107,551,595
Ensembl chr 8:107,548,352...107,551,438
|
|
G |
Mapk8 |
mitogen-activated protein kinase 8 |
treatment |
IDA |
|
RGD |
PMID:20581854 |
RGD:401965387 |
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
|
|
G |
Mapt |
microtubule-associated protein tau |
treatment |
ISO IDA |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parkinsonian disorder |
CTD ClinVar RGD |
PMID:10802785 PMID:19458322 PMID:27228974 |
RGD:13801017 |
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
|
|
G |
Mmp3 |
matrix metallopeptidase 3 |
treatment |
IEP |
|
RGD |
PMID:22498097 |
RGD:8693688 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO |
|
RGD |
PMID:15075439 |
RGD:13204850 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
|
|
G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism |
ClinVar |
PMID:25741868 PMID:26467025 PMID:26878173 PMID:26898890 PMID:27878467 PMID:28492532 PMID:31159747 PMID:31353207 PMID:33471991 More...
|
|
NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
|
|
G |
Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
|
IEP |
mRNA:decreased expression:thalamus |
RGD |
PMID:17148469 |
RGD:2302296 |
NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
|
|
G |
Mtor |
mechanistic target of rapamycin kinase |
treatment |
ISO |
|
RGD |
PMID:20089925 |
RGD:10040992 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
|
|
G |
Ndufs3 |
NADH:ubiquinone oxidoreductase core subunit S3 |
|
IEP |
|
RGD |
PMID:20403401 |
RGD:13824972 |
NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824
|
|
G |
Nfkb2 |
nuclear factor kappa B subunit 2 |
|
IMP |
|
RGD |
PMID:18534259 |
RGD:2302392 |
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
|
|
G |
Ngf |
nerve growth factor |
treatment |
ISO IEP |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:19694610 PMID:20581854 |
RGD:401965387 |
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
|
|
G |
Ngfr |
nerve growth factor receptor |
treatment |
IEP |
|
RGD |
PMID:20581854 |
RGD:401965387 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
|
|
G |
Nos1 |
nitric oxide synthase 1 |
|
IEP |
|
RGD |
PMID:23967645 |
RGD:7257596 |
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
|
|
G |
Nr4a2 |
nuclear receptor subfamily 4, group A, member 2 |
treatment |
IEP |
|
RGD |
PMID:31408200 |
RGD:124713575 |
NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
|
|
G |
Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
treatment |
IDA |
|
RGD |
PMID:20581854 |
RGD:401965387 |
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
|
|
G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
treatment |
IDA |
|
RGD |
PMID:27019033 |
RGD:596948418 |
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
|
|
G |
Pacrg |
parkin coregulated |
|
ISO |
ClinVar Annotator: match by term: Juvenile parkinsonism |
ClinVar |
|
|
NCBI chr 1:49,882,671...50,305,564
Ensembl chr 1:49,882,630...50,305,430
|
|
G |
Park7 |
Parkinsonism associated deglycase |
treatment |
ISO IEP IMP IDA |
CTD Direct Evidence: marker/mechanism protein:decreased expression:brain |
CTD RGD |
PMID:23046578 PMID:26558463 PMID:16860563 PMID:22710069 PMID:18373560 PMID:24969022 PMID:22041943 More...
|
RGD:1601076, RGD:13463458, RGD:13463452, RGD:13210569, RGD:13462067 |
NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
|
|
G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17640816 |
|
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
|
|
G |
Pde1b |
phosphodiesterase 1B |
|
IEP |
|
RGD |
PMID:15305867 |
RGD:2312524 |
NCBI chr 7:134,627,378...134,654,581
Ensembl chr 7:134,627,322...134,654,580
|
|
G |
Pdgfrb |
platelet derived growth factor receptor beta |
|
ISO |
ClinVar Annotator: match by term: Parkinsonian disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
|
|
G |
Pdyn |
prodynorphin |
disease_progression |
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:striatum |
CTD RGD |
PMID:9930741 PMID:26113400 |
RGD:401851054 |
NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
|
|
G |
Pink1 |
PTEN induced kinase 1 |
|
ISO IMP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11254447 PMID:15349871 PMID:23046578 PMID:24441527 PMID:24792327 PMID:26558463 PMID:24969022 More...
|
RGD:13210569 |
NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
|
|
G |
Pnoc |
prepronociceptin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26687234 |
|
NCBI chr15:39,624,635...39,652,463
Ensembl chr15:39,624,641...39,651,867
|
|
G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17923349 |
|
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
|
|
G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
ISO |
|
RGD |
PMID:22246294 PMID:21376232 PMID:22040668 |
RGD:6484262, RGD:6484271, RGD:6484267 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
|
|
G |
Prkcd |
protein kinase C, delta |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15681813 |
|
NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
|
|
G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic ClinVar Annotator: match by term: Juvenile parkinsonism |
CTD ClinVar |
PMID:10072423 PMID:10824074 PMID:10894217 PMID:11179010 PMID:11254447 PMID:11558785 PMID:11889248 PMID:12114481 PMID:12730996 PMID:12764051 PMID:12891670 PMID:14519684 PMID:15090472 PMID:15390068 PMID:15606901 PMID:15970950 PMID:16049031 PMID:16339143 PMID:16643317 PMID:16714300 PMID:16914382 PMID:17766365 PMID:18485927 PMID:18486522 PMID:18927607 PMID:19162522 PMID:19636047 PMID:19801972 PMID:20404107 PMID:20457763 PMID:20558392 PMID:20604804 PMID:20798600 PMID:21348451 PMID:21694720 PMID:21996382 PMID:22118943 PMID:22555654 PMID:23046578 PMID:23531835 PMID:23751051 PMID:23770917 PMID:23818421 PMID:24082139 PMID:24647965 PMID:24816432 PMID:24831986 PMID:25591737 PMID:25640678 PMID:25741868 PMID:25815004 PMID:25907632 PMID:25939424 PMID:26188007 PMID:26467025 PMID:26556299 PMID:26558463 PMID:26631732 PMID:26683220 PMID:26764160 PMID:26836416 PMID:26855076 PMID:27182553 PMID:27294386 PMID:27534820 PMID:28492532 PMID:29353703 PMID:29530980 PMID:30200940 PMID:30537300 PMID:30609409 PMID:30994895 PMID:31324919 PMID:31409571 PMID:32970363 PMID:33045815 PMID:33497488 PMID:33845304 PMID:35640906 PMID:35747619 PMID:35954270 More...
|
|
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
|
|
G |
Prkra |
protein activator of interferon induced protein kinase EIF2AK2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18243799 |
|
NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347
|
|
G |
Prl |
prolactin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:240179 |
|
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
|
|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO IDA |
mRNA, protein:increased expression:neostriatum |
RGD |
PMID:21376018 PMID:16781689 PMID:15306248 |
RGD:5508224, RGD:5688269, RGD:5688225 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
|
|
G |
Ptrhd1 |
peptidyl-tRNA hydrolase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonian disorder |
ClinVar |
PMID:27134041 PMID:27753167 PMID:29143421 |
|
NCBI chr 6:27,218,417...27,221,805
Ensembl chr 6:27,218,417...27,221,805
|
|
G |
Ranbp2 |
RAN binding protein 2 |
severity |
ISO |
|
RGD |
PMID:22821000 |
RGD:9835348 |
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
|
|
G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
IMP |
|
RGD |
PMID:18534259 |
RGD:2302392 |
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
|
|
G |
Ret |
ret proto-oncogene |
|
IEP |
mRNA:altered expression:brain |
RGD |
PMID:12210101 |
RGD:6218972 |
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
|
|
G |
Rgs4 |
regulator of G-protein signaling 4 |
treatment |
ISO |
|
RGD |
PMID:25844489 |
RGD:13524517 |
NCBI chr13:81,936,775...81,943,103
Ensembl chr13:81,936,775...81,943,068
|
|
G |
Rgs9 |
regulator of G-protein signaling 9 |
treatment |
IEP ISO |
protein:decreased expression:striatum |
RGD |
PMID:20561938 PMID:18160641 PMID:21963945 |
RGD:13524532, RGD:13524864, RGD:13524862 |
NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892
|
|
G |
Shh |
sonic hedgehog signaling molecule |
treatment |
IMP |
|
RGD |
PMID:25030123 |
RGD:12859032 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
|
|
G |
Slc11a2 |
solute carrier family 11 member 2 |
|
ISO IDA IMP |
|
RGD |
PMID:19011085 PMID:20125122 PMID:19011085 |
RGD:5688713, RGD:5688715, RGD:5688713 |
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
|
|
G |
Slc17a8 |
solute carrier family 17 member 8 |
|
IEP |
protein:increased expression:substantia nigra pars reticulata, neuron, perikaryon |
RGD |
PMID:17435391 |
RGD:9999153 |
NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079
|
|
G |
Slc18a2 |
solute carrier family 18 member A2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16269145 |
|
NCBI chr 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325
|
|
G |
Slc30a10 |
solute carrier family 30, member 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26220508 |
|
NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
|
|
G |
Slc6a3 |
solute carrier family 6 member 3 |
|
IEP |
protein:decreased expression:striatum |
RGD |
PMID:15680936 |
RGD:1625663 |
NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
|
|
G |
Slc6a4 |
solute carrier family 6 member 4 |
|
IEP |
|
RGD |
PMID:20447560 |
RGD:4889474 |
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
|
|
G |
Snca |
synuclein alpha |
|
ISO |
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:38016618 PMID:15499605 PMID:15147505 More...
|
RGD:6478799, RGD:6478802 |
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
|
|
G |
Sncg |
synuclein, gamma |
|
ISO |
|
RGD |
PMID:15147505 |
RGD:6478802 |
NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
|
|
G |
Src |
SRC proto-oncogene, non-receptor tyrosine kinase |
|
IDA |
|
RGD |
PMID:16529858 |
RGD:1581410 |
NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
|
|
G |
Tbc1d24 |
TBC1 domain family, member 24 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonian disorder |
ClinVar |
PMID:3402014 PMID:25401298 PMID:25741868 PMID:27281533 PMID:27541164 PMID:28492532 PMID:28663785 PMID:29429257 PMID:29933521 PMID:31112829 PMID:31257402 PMID:33063868 PMID:34020146 More...
|
|
NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
|
|
G |
Tfam |
transcription factor A, mitochondrial |
|
ISO |
mRNA:increased expression:striatum |
RGD |
PMID:22040668 |
RGD:6484267 |
NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
|
|
G |
Tgm6 |
transglutaminase 6 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734
|
|
G |
Th |
tyrosine hydroxylase |
susceptibility treatment |
ISO IEP |
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 chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
|
|
G |
Tnf |
tumor necrosis factor |
treatment |
ISO |
|
RGD |
PMID:21831964 PMID:28338241 |
RGD:7247422, RGD:13503338 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
|
|
G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
treatment |
ISO |
|
RGD |
PMID:21831964 |
RGD:7247422 |
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
|
|
G |
Ucn |
urocortin |
|
IDA |
|
RGD |
PMID:21362449 |
RGD:5508188 |
NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950
|
|
G |
Vdac1 |
voltage-dependent anion channel 1 |
|
ISO |
|
RGD |
PMID:24825319 |
RGD:13504672 |
NCBI chr10:36,532,306...36,559,642
Ensembl chr10:36,532,244...36,559,640
|
|
G |
Vhl |
von Hippel-Lindau tumor suppressor |
|
IDA |
|
RGD |
PMID:20302395 |
RGD:2325190 |
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
|
|
G |
Vip |
vasoactive intestinal peptide |
|
IMP |
|
RGD |
PMID:15808913 |
RGD:5685601 |
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
|
|
|
G |
Park7 |
Parkinsonism associated deglycase |
|
ISO |
ClinVar Annotator: match by term: Guam disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
|
|
G |
Trpm7 |
transient receptor potential cation channel, subfamily M, member 7 |
susceptibility no_association |
ISO |
DNA:mutation:cds: p.T1482I (human) ClinVar Annotator: match by term: Guam disease | ClinVar Annotator: match by term: TRPM7-related condition |
ClinVar OMIM RGD |
PMID:16051700 PMID:19405049 PMID:25741868 PMID:28492532 PMID:16051700 PMID:19405049 More...
|
RGD:5685005, RGD:5685008 |
NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
|
|
|
G |
Gba1 |
glucosylceramidase beta 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease |
ClinVar |
PMID:1348297 PMID:1704891 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1961718 PMID:1971142 PMID:1972019 PMID:2117855 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7789963 PMID:7981693 PMID:8118463 PMID:8160756 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8733893 PMID:8889578 PMID:8929950 PMID:9153297 PMID:9279145 PMID:9375849 PMID:9516376 PMID:9554746 PMID:9556036 PMID:10079102 PMID:10649495 PMID:10685993 PMID:10714667 PMID:10777718 PMID:10796875 PMID:11259172 PMID:11336129 PMID:11783951 PMID:12482401 PMID:12587096 PMID:12595585 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15352589 PMID:15605411 PMID:15826241 PMID:16293621 PMID:16967369 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19394250 PMID:19513999 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21384230 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22375149 PMID:22388998 PMID:22429443 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:23699752 PMID:23719189 PMID:23757202 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24482953 PMID:24522292 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25525159 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25933391 PMID:25946768 PMID:26096741 PMID:26296077 PMID:26467025 PMID:26792850 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:30146349 PMID:30169122 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:31130284 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32035846 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 More...
|
|
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
|
|
G |
Snca |
synuclein alpha |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease |
ClinVar |
PMID:25393002 PMID:28492532 |
|
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
|
|
G |
Sncb |
synuclein, beta |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease |
ClinVar |
PMID:15365127 PMID:21045828 PMID:25741868 PMID:26332674 PMID:31589614 PMID:33760043 More...
|
|
NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
|
|
|
G |
Slc6a3 |
solute carrier family 6 member 3 |
|
ISO |
ClinVar Annotator: match by term: Classic dopamine transporter deficiency syndrome | 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:24613933 PMID:25313507 PMID:25331903 PMID:25741436 PMID:25741868 PMID:26931468 PMID:28492532 PMID:29559554 More...
|
|
NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
|
|
|
G |
Ahrr |
aryl-hydrocarbon receptor repressor |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:28,993,634...29,088,673
Ensembl chr 1:28,993,634...29,088,673
|
|
G |
Brd9 |
bromodomain containing 9 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:29,329,981...29,357,285
Ensembl chr 1:29,329,985...29,357,016
|
|
G |
Cep72 |
centrosomal protein 72 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:29,225,312...29,255,294
Ensembl chr 1:29,225,361...29,255,271
|
|
G |
Clptm1l |
CLPTM1-like |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
|
|
G |
Exoc3 |
exocyst complex component 3 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:29,091,298...29,122,056
Ensembl chr 1:29,091,294...29,122,045
|
|
G |
Irx4 |
iroquois homeobox 4 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549
|
|
G |
Lpcat1 |
lysophosphatidylcholine acyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:29,766,070...29,816,401
Ensembl chr 1:29,766,071...29,816,401
|
|
G |
Mrpl36 |
mitochondrial ribosomal protein L36 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:29,965,481...29,968,896
Ensembl chr 1:29,965,317...29,968,807
|
|
G |
Ndufs6 |
NADH:ubiquinone oxidoreductase subunit S6 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:29,968,833...29,977,423
Ensembl chr 1:29,968,842...29,977,467
|
|
G |
Nkd2 |
NKD inhibitor of WNT signaling pathway 2 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:29,442,898...29,470,839
Ensembl chr 1:29,441,328...29,470,821
|
|
G |
Pdcd6 |
programmed cell death 6 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:28,966,518...28,982,188
Ensembl chr 1:28,966,518...28,982,189
|
|
G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
|
|
G |
Slc12a7 |
solute carrier family 12 member 7 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:29,472,692...29,554,246
Ensembl chr 1:29,472,692...29,554,302
|
|
G |
Slc6a18 |
solute carrier family 6 member 18 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:29,607,288...29,621,925
Ensembl chr 1:29,608,077...29,621,925
|
|
G |
Slc6a19 |
solute carrier family 6 member 19 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962
|
|
G |
Slc6a3 |
solute carrier family 6 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DOPAMINE TRANSPORTER DEFICIENCY SYNDROME | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
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:22279524 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 PMID:34375312 More...
|
|
NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
|
|
G |
Slc9a3 |
solute carrier family 9 member A3 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
|
|
G |
Tert |
telomerase reverse transcriptase |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
|
|
G |
Tppp |
tubulin polymerization promoting protein |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:29,257,111...29,281,134
Ensembl chr 1:29,261,255...29,281,134
|
|
G |
Trip13 |
thyroid hormone receptor interactor 13 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074
|
|
G |
Zdhhc11 |
zinc finger, DHHC-type containing 11 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile |
ClinVar |
PMID:21112253 PMID:28492532 |
|
NCBI chr 1:29,296,334...29,327,227
Ensembl chr 1:29,296,334...29,326,898
|
|
|
G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Young-onset Parkinson disease |
ClinVar |
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:16333314 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:20413974 PMID:21115957 PMID:21280089 PMID:21753163 PMID:21850687 PMID:22539006 PMID:22575234 PMID:23075850 PMID:23472874 PMID:24033266 PMID:24148854 PMID:24243757 PMID:25330418 PMID:25741868 PMID:26062626 PMID:26251043 PMID:26467025 PMID:28465860 PMID:28492532 PMID:28639421 PMID:29309488 PMID:29386392 PMID:29402177 More...
|
|
NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
|
|
G |
Pacrg |
parkin coregulated |
|
ISO |
ClinVar Annotator: match by term: Young-onset Parkinson disease |
ClinVar |
PMID:12707451 PMID:12730996 PMID:15606901 PMID:16643317 PMID:19636047 PMID:20399249 PMID:21348451 PMID:21694720 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 1:49,882,671...50,305,564
Ensembl chr 1:49,882,630...50,305,430
|
|
G |
Park7 |
Parkinsonism associated deglycase |
|
ISO |
ClinVar Annotator: match by term: Young-onset Parkinson disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
|
|
G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: Young-onset Parkinson disease |
ClinVar |
PMID:10072423 PMID:10824074 PMID:11179010 PMID:11558785 PMID:11889248 PMID:11971093 PMID:12114481 PMID:12629236 PMID:12707451 PMID:12730996 PMID:12764050 PMID:12764051 PMID:12781588 PMID:12891670 PMID:14519684 PMID:15090472 PMID:15390068 PMID:15606901 PMID:15970950 PMID:16049031 PMID:16227559 PMID:16339143 PMID:16367892 PMID:16476817 PMID:16643317 PMID:16714300 PMID:17766365 PMID:18211709 PMID:18486522 PMID:18519021 PMID:18785233 PMID:18973255 PMID:19162522 PMID:19205068 PMID:19636047 PMID:19801972 PMID:20301651 PMID:20399249 PMID:20404107 PMID:20457763 PMID:20558392 PMID:20604804 PMID:20798600 PMID:21348451 PMID:21694720 PMID:21996382 PMID:22118943 PMID:22555654 PMID:22956510 PMID:23275044 PMID:23531835 PMID:23751051 PMID:23818421 PMID:23986421 PMID:24082139 PMID:24167364 PMID:24647965 PMID:24831986 PMID:25591737 PMID:25741868 PMID:25815004 PMID:25833766 PMID:25877876 PMID:25907632 PMID:25939424 PMID:26188007 PMID:26274610 PMID:26467025 PMID:26556299 PMID:26683220 PMID:26764160 PMID:26836416 PMID:26855076 PMID:27182553 PMID:27206984 PMID:27294386 PMID:27776828 PMID:28492532 PMID:29353703 PMID:29606608 PMID:29910155 PMID:30099245 PMID:30200940 PMID:30537300 PMID:30609409 PMID:30994895 PMID:31324919 PMID:31409571 PMID:32870915 PMID:32970363 PMID:33045815 PMID:33497488 PMID:33845304 PMID:34426522 PMID:35640906 PMID:35747619 PMID:35954270 More...
|
|
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
|
|
G |
Vps13c |
vacuolar protein sorting 13 homolog C |
|
ISO |
ClinVar Annotator: match by term: Young-onset Parkinson disease |
ClinVar |
PMID:25741868 PMID:26942284 PMID:32623794 PMID:36029130 |
|
NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895
|
|
|
G |
Slc18a2 |
solute carrier family 18 member A2 |
|
ISO |
ClinVar Annotator: match by term: Brain dopamine-serotonin vesicular transport disease | ClinVar Annotator: match by term: SLC18A2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26497564 PMID:26539891 PMID:28492532 PMID:28716265 PMID:31618753 PMID:32581362 PMID:34078222 PMID:35002152 PMID:36318270 More...
|
|
NCBI chr 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325
|
|
|
G |
Nr4a2 |
nuclear receptor subfamily 4, group A, member 2 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | ClinVar Annotator: match by term: NR4A2-related condition |
OMIM ClinVar |
PMID:23066323 PMID:25741868 PMID:28492532 PMID:29758562 PMID:29770430 PMID:31428396 PMID:31922365 PMID:32366965 PMID:33585677 PMID:38440907 More...
|
|
NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
|
|
|
G |
Pacrg |
parkin coregulated |
|
ISO |
ClinVar Annotator: match by term: Juvenile-onset Parkinson disease |
ClinVar |
|
|
NCBI chr 1:49,882,671...50,305,564
Ensembl chr 1:49,882,630...50,305,430
|
|
G |
Park7 |
Parkinsonism associated deglycase |
|
ISO |
ClinVar Annotator: match by term: Juvenile-onset Parkinson disease |
ClinVar |
|
|
NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
|
|
G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: Juvenile-onset Parkinson disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
|
|
G |
Tnfrsf9 |
TNF receptor superfamily member 9 |
|
ISO |
ClinVar Annotator: match by term: Juvenile-onset Parkinson disease |
ClinVar |
|
|
NCBI chr 5:161,381,662...161,408,003
Ensembl chr 5:161,381,662...161,408,000
|
|
|
G |
Atp13a2 |
ATPase cation transporting 13A2 |
|
ISO ISS |
ClinVar Annotator: match by term: Kufor-Rakeb syndrome OMIM:606693 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
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:29913018 PMID:29966207 PMID:30232368 PMID:30746398 PMID:30833663 PMID:30868101 PMID:31771779 PMID:31944623 PMID:31980526 PMID:31996848 PMID:32461654 PMID:32707456 PMID:33049588 PMID:33335927 PMID:34382491 PMID:34475127 PMID:35695987 PMID:35861376 PMID:36065636 PMID:36499080 PMID:36703223 PMID:37080960 PMID:37139776 PMID:38173558 PMID:38249738 More...
|
|
NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
|
|
|
G |
Adh1c |
alcohol dehydrogenase 1C (class I), gamma polypeptide |
susceptibility |
ISO |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar OMIM |
PMID:25741868 |
|
NCBI chr 2:226,797,303...226,808,892
Ensembl chr 2:226,797,303...226,808,892
|
|
G |
Atxn2 |
ataxin 2 |
|
ISO |
|
OMIM |
|
|
NCBI chr12:34,754,132...34,851,175
Ensembl chr12:34,754,137...34,851,479
|
|
G |
Atxn3 |
ataxin 3 |
susceptibility |
ISO |
ClinVar Annotator: match by term: ATXN3-related condition |
ClinVar OMIM |
PMID:24033266 PMID:25741868 PMID:37091313 |
|
NCBI chr 6:121,072,228...121,107,902
Ensembl chr 6:121,074,448...121,107,902
|
|
G |
Dnajb6 |
DnaJ heat shock protein family (Hsp40) member B6 |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:5,452,683...5,556,679
Ensembl chr 4:5,452,683...5,556,659
|
|
G |
Dnajc13 |
DnaJ heat shock protein family (Hsp40) member C13 |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:24218364 PMID:25118025 PMID:27270108 |
|
NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317
|
|
G |
Eif4g1 |
eukaryotic translation initiation factor 4 gamma 1 |
|
ISO |
ClinVar Annotator: match by term: EIF4G1-related condition | ClinVar Annotator: match by term: Parkinson disease 18, autosomal dominant, susceptibility to |
OMIM ClinVar |
PMID:21907011 PMID:23408866 PMID:25368108 PMID:25741868 PMID:28492532 |
|
NCBI chr11:80,221,919...80,241,958
Ensembl chr11:80,221,919...80,241,941
|
|
G |
Fgf20 |
fibroblast growth factor 20 |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:18252210 PMID:19133659 PMID:25741868 |
|
NCBI chr16:52,030,549...52,038,201
Ensembl chr16:52,010,194...52,038,204
|
|
G |
Gba1 |
glucosylceramidase beta 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar OMIM |
PMID:1333717 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1864608 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: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:9295080 PMID:9375849 PMID:9516376 PMID:9554746 PMID:9556036 PMID:9683600 PMID:9856561 PMID:10079102 PMID:10636167 PMID:10649495 PMID:10685993 PMID:10714667 PMID:10744424 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:12694238 PMID:12734541 PMID:12791040 PMID:12838552 PMID:12972024 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15352589 PMID:15605411 PMID:15826241 PMID:15967693 PMID:16061944 PMID:16199547 PMID:16293621 PMID:16967369 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17574891 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:19394250 PMID:19513999 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:23426826 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:24434810 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:24904648 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:26792850 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27027900 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: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:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29842932 PMID:29934114 PMID:29980418 PMID:30146349 PMID:30169122 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30637984 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:32035846 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:34586679 PMID:34649574 PMID:35242582 PMID:35639160 PMID:84325327 More...
|
|
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
|
|
G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:polymorphism:exon:A>G313 (human) |
RGD |
PMID:17250723 |
RGD:5148021 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
|
|
G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
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:16333314 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:20413974 PMID:21115957 PMID:21280089 PMID:21753163 PMID:21850687 PMID:22539006 PMID:22575234 PMID:23075850 PMID:23472874 PMID:24033266 PMID:24148854 PMID:24243757 PMID:24660942 PMID:25330418 PMID:25741868 PMID:26062626 PMID:26251043 PMID:26467025 PMID:27111571 PMID:28465860 PMID:28492532 PMID:28639421 PMID:29309488 PMID:29386392 PMID:29402177 More...
|
|
NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
|
|
G |
Mapt |
microtubule-associated protein tau |
|
ISO |
ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar OMIM |
PMID:2273997 PMID:8673924 PMID:9382467 PMID:9629852 PMID:9641683 PMID:9736786 PMID:9789048 PMID:9824291 PMID:9973279 PMID:10100642 PMID:10214944 PMID:10219785 PMID:10514099 PMID:10627302 PMID:10767321 PMID:10797541 PMID:10820221 PMID:10821687 PMID:10932182 PMID:11013246 PMID:11102510 PMID:11115852 PMID:11117542 PMID:11159174 PMID:11255441 PMID:11278002 PMID:11402146 PMID:11756436 PMID:11889249 PMID:12368474 PMID:12473404 PMID:12876142 PMID:14517953 PMID:15178938 PMID:15178940 PMID:15489396 PMID:15831501 PMID:16495230 PMID:17526496 PMID:18284428 PMID:18587238 PMID:18803694 PMID:18992292 PMID:19304664 PMID:19458322 PMID:19659892 PMID:20301678 PMID:20377816 PMID:20561037 PMID:20634584 PMID:21339331 PMID:21849646 PMID:22022446 PMID:22723997 PMID:22787795 PMID:23105105 PMID:23338682 PMID:23383383 PMID:23727082 PMID:24150109 PMID:25319522 PMID:25592136 PMID:25741868 PMID:25942996 PMID:26028272 PMID:26220942 PMID:26269332 PMID:26467025 PMID:26519432 PMID:27439681 PMID:28268100 PMID:28492532 PMID:30528841 PMID:32843152 More...
|
|
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
|
|
G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:8104867 PMID:15972314 |
|
NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
|
|
G |
Nr4a2 |
nuclear receptor subfamily 4, group A, member 2 |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:12496759 PMID:15079038 PMID:15184637 PMID:19429166 PMID:23066323 PMID:24126627 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
|
|
G |
Park7 |
Parkinsonism associated deglycase |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
|
|
NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
|
|
G |
Pink1 |
PTEN induced kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
|
|
NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
|
|
G |
Podxl |
podocalyxin-like |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:26864383 PMID:28492532 |
|
NCBI chr 4:60,135,124...60,181,829
Ensembl chr 4:60,135,109...60,181,899
|
|
G |
Psap |
prosaposin |
|
ISO |
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:2019586 PMID:9536098 PMID:17576681 PMID:19955343 PMID:25741868 PMID:28492532 PMID:30037697 PMID:30632081 PMID:31319425 PMID:32180488 PMID:32201884 PMID:33402667 More...
|
|
NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
|
|
G |
RT1-Da |
RT1 class II, locus Da |
|
ISO |
DNA:SNP:intron: (rs3129882) (human) |
RGD |
PMID:21791235 |
RGD:5490156 |
NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
|
|
G |
Sncaip |
synuclein, alpha interacting protein |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
PMID:12761037 PMID:18366718 PMID:25741868 PMID:28492532 |
|
NCBI chr18:46,205,846...46,343,932
Ensembl chr18:46,207,152...46,343,929
|
|
G |
Tbp |
TATA box binding protein |
|
ISO |
|
OMIM |
|
|
NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016
|
|
G |
Vps35 |
VPS35 retromer complex component |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease, late-onset |
ClinVar |
|
|
NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618
|
|
|
G |
Ager |
advanced glycosylation end product-specific receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16141792 |
|
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
|
|
G |
Aif1 |
allograft inflammatory factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
|
|
G |
Anxa5 |
annexin A5 |
|
ISO |
protein:increased expression: plasma |
RGD |
PMID:23576984 |
RGD:10053729 |
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
|
|
G |
Apoe |
apolipoprotein E |
|
ISO |
protein:increased expression:neuron: |
RGD |
PMID:21907175 |
RGD:7771591 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
|
|
G |
Becn1 |
beclin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19628769 |
|
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
|
|
G |
Ccr1 |
C-C motif chemokine receptor 1 |
|
ISO |
|
RGD |
PMID:14595653 |
RGD:5688166 |
NCBI chr 8:123,556,286...123,561,841
|
|
G |
Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
|
ISO |
|
RGD |
PMID:15465084 |
RGD:1358509 |
NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
|
|
G |
Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
|
RGD |
PMID:15465084 |
RGD:1358509 |
NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
|
|
G |
Edn1 |
endothelin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
|
|
G |
Elk1 |
ETS transcription factor ELK1 |
|
ISO |
|
RGD |
PMID:20126313 |
RGD:7488914 |
NCBI chr X:1,138,826...1,155,713
Ensembl chr X:1,139,756...1,155,713
|
|
G |
Eno2 |
enolase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30236862 |
|
NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
|
|
G |
Gba1 |
glucosylceramidase beta 1 |
|
ISO |
DNA:missense mutations:cds:multiple (human) ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia CTD Direct Evidence: marker/mechanism DNA:missense mutations, frameshift mutation:cds:multiple (human) |
OMIM ClinVar CTD RGD |
PMID:1301953 PMID:1333717 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1840477 PMID:1864608 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:9516376 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:22429443 PMID:22451204 PMID:22526844 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22803570 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23079555 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:24219755 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:26995357 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:29920646 PMID:29934114 PMID:30146349 PMID:30169122 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:32035846 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:34134921 PMID:34275192 PMID:34426522 PMID:34586679 PMID:34649574 PMID:35242582 PMID:35639160 PMID:37658046 PMID:84325327 PMID:20971030 PMID:25933391 More...
|
RGD:5508424, RGD:12791014 |
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
|
|
G |
Gfap |
glial fibrillary acidic protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
|
|
G |
Gpr37 |
G protein-coupled receptor 37 |
|
ISO |
|
RGD |
PMID:14991825 |
RGD:13504666 |
NCBI chr 4:54,138,860...54,160,927
Ensembl chr 4:54,138,870...54,161,001
|
|
G |
Igf1r |
insulin-like growth factor 1 receptor |
|
ISO |
mRNA:altered expression:brain: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19276553 PMID:19276553 |
RGD:5129515 |
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
|
|
G |
Igf2 |
insulin-like growth factor 2 |
|
ISO |
mRNA:decreased expression:frontal cortex CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19276553 PMID:19276553 |
RGD:5129515 |
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
|
|
G |
Igf2r |
insulin-like growth factor 2 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
|
|
G |
Ins2 |
insulin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
|
|
G |
Insr |
insulin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
|
|
G |
Klk6 |
kallikrein related-peptidase 6 |
|
ISO |
|
RGD |
PMID:12928483 |
RGD:1358597 |
NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121
|
|
G |
Mag |
myelin-associated glycoprotein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656
|
|
G |
Map2 |
microtubule-associated protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30236862 PMID:20024519 |
RGD:6483091 |
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
|
|
G |
Mmrn1 |
multimerin 1 |
|
ISO |
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...
|
|
NCBI chr 4:89,875,408...89,950,814
Ensembl chr 4:89,903,174...89,950,474
|
|
G |
Nefl |
neurofilament light chain |
|
ISO |
protein:increased expression:CSF (human) |
RGD |
PMID:29368621 PMID:29391125 |
RGD:127284889, RGD:127285384 |
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
|
|
G |
Ngf |
nerve growth factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
|
|
G |
Ngfr |
nerve growth factor receptor |
|
ISO |
protein:decreased expression:brain |
RGD |
PMID:8347330 |
RGD:10413896 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
|
|
G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
|
RGD |
PMID:10674474 |
RGD:1358529 |
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
|
|
G |
Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
|
|
G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
|
|
G |
Pcna |
proliferating cell nuclear antigen |
|
ISO |
protein:increased expression:Hippocampal sub ventricular zone,Subgranular layer: |
RGD |
PMID:20665591 |
RGD:10448971 |
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
|
|
G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30236862 |
|
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
|
|
G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
|
ISO |
|
RGD |
PMID:17467279 |
RGD:10412737 |
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
|
|
G |
Septin4 |
septin 4 |
|
ISO |
|
RGD |
PMID:12695511 |
RGD:13504670 |
NCBI chr10:72,366,729...72,390,764
Ensembl chr10:72,366,873...72,390,768
|
|
G |
Snca |
synuclein alpha |
|
ISO |
ClinVar Annotator: match by term: Lewy Body Disease | 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:10482268 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:23669636 PMID:23674501 PMID:23880019 PMID:24047453 PMID:24313877 PMID:24552873 PMID:24746362 PMID:24752924 PMID:24936070 PMID:24984882 PMID:25003242 PMID:25268550 PMID:25393002 PMID:25505181 PMID:25741868 PMID:25892596 PMID:26076669 PMID:26341711 PMID:26799529 PMID:26858591 PMID:27066564 PMID:27393118 PMID:27573854 PMID:28012952 PMID:28416701 PMID:28492532 PMID:28666710 PMID:29233723 PMID:29398121 PMID:29771508 PMID:30423204 PMID:30528390 PMID:30598256 PMID:31980526 PMID:31996268 PMID:32786148 PMID:33617693 PMID:20697047 PMID:18625222 PMID:11733371 PMID:10557341 PMID:18577885 More...
|
RGD:6478704, RGD:13506723, RGD:6480103, RGD:6480095, RGD:6478792 |
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
|
|
G |
Sncb |
synuclein, beta |
|
ISO |
DNA:mutations:cds:p.V70M, P123H (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diffuse Lewy body disease | 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...
|
RGD:6219004, RGD:6480095, RGD:6478800 |
NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
|
|
G |
Sncg |
synuclein, gamma |
|
ISO |
protein:increased expression:hippocampus protein:increased expression:cerebrospinal fluid |
RGD |
PMID:20697047 PMID:10557341 PMID:18577885 |
RGD:6478704, RGD:6480095, RGD:6478792 |
NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16141792 |
|
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
|
|
G |
Tardbp |
TAR DNA binding protein |
|
ISO |
|
RGD |
PMID:20669025 |
RGD:5687180 |
NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
|
|
G |
Th |
tyrosine hydroxylase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30236862 |
|
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
|
|
G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Lewy body dementia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
|
|
|
G |
Aqp9 |
aquaporin 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29566083 |
|
NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
|
|
G |
Il17a |
interleukin 17A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31351185 |
|
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
|
|
G |
Ins2 |
insulin 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:26364587 |
|
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
|
|
|
G |
Ptrhd1 |
peptidyl-tRNA hydrolase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:27134041 PMID:27753167 PMID:29143421 PMID:30398675 PMID:34765690 PMID:34816696 PMID:38286424 More...
|
|
NCBI chr 6:27,218,417...27,221,805
Ensembl chr 6:27,218,417...27,221,805
|
|
|
G |
A2m |
alpha-2-macroglobulin |
onset |
ISO |
DNA:polymorphism: :p.I1000V (human) |
GAD RGD |
PMID:15118671 PMID:12133586 |
RGD:1331525, RGD:10046014 |
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
|
|
G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20558393 |
|
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
|
|
G |
Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
ISO IEP |
protein:increased phosphorylation:striatum: protein:increased expression:brain: |
RGD |
PMID:20823226 PMID:24412932 PMID:24412932 |
RGD:8693409, RGD:8693592, RGD:8693592 |
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
|
|
G |
Ace |
angiotensin I converting enzyme |
|
ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
|
|
G |
Ache |
acetylcholinesterase |
|
ISO |
|
RGD |
PMID:19474411 |
RGD:5509846 |
NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
|
|
G |
Adarb2 |
adenosine deaminase RNA specific B2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
|
NCBI chr17:61,750,437...62,300,984
Ensembl chr17:61,756,067...62,300,831
|
|
G |
Adcy5 |
adenylate cyclase 5 |
|
ISS |
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 |
MouseDO |
|
|
NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
|
|
G |
Adh7 |
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide |
|
ISS |
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 |
MouseDO |
|
|
NCBI chr 2:226,748,724...226,763,183
Ensembl chr 2:226,741,788...226,763,182
|
|
G |
Afdn |
afadin, adherens junction formation factor |
|
ISO |
protein:decreased expression: caudate-putamen, substantia nigra |
RGD |
PMID:23393160 |
RGD:13838733 |
NCBI chr 1:53,905,344...54,034,216
Ensembl chr 1:53,905,373...54,034,216
|
|
G |
Agtr1a |
angiotensin II receptor, type 1a |
|
ISO |
protein:decreased expression:caudate nucleus,putamen,substantia nigra: |
RGD |
PMID:8666063 |
RGD:10047397 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
|
|
G |
Aif1 |
allograft inflammatory factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
|
|
G |
Akt1 |
AKT serine/threonine kinase 1 |
no_association |
ISO |
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 chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
|
|
G |
Aldh2 |
aldehyde dehydrogenase 2 family member |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24491970 |
|
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
|
|
G |
Ang |
angiogenin |
|
ISO |
DNA:mutations:multiple |
RGD |
PMID:22190368 |
RGD:6892707 |
NCBI chr15:24,312,711...24,323,361
|
|
G |
Anxa5 |
annexin A5 |
|
ISO |
protein:decreased expression:cerebrospinal fluid: |
RGD |
PMID:10584677 |
RGD:10053728 |
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
|
|
G |
Apaf1 |
apoptotic peptidase activating factor 1 |
|
ISO |
|
RGD |
PMID:24835407 |
RGD:13503333 |
NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540
|
|
G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
protein: altered expression: cerebrospinal fluid: 2 different isoforms |
RGD |
PMID:20085559 |
RGD:5508216 |
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
|
|
G |
Apoe |
apolipoprotein E |
|
ISO |
protein:increased expression:neuron: |
RGD |
PMID:21907175 |
RGD:7771591 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
|
|
G |
Arpc3 |
actin related protein 2/3 complex, subunit 3 |
treatment |
IDA |
|
RGD |
PMID:20713051 |
RGD:11049454 |
NCBI chr12:34,172,780...34,186,651
Ensembl chr12:34,172,780...34,186,651
|
|
G |
Atg7 |
autophagy related 7 |
|
ISS |
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 |
MouseDO |
|
|
NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
|
|
G |
Atm |
ATM serine/threonine kinase |
|
ISO |
protein:increased serine phosphorylation:cingulate gyrus |
RGD |
PMID:20502937 |
RGD:10053605 |
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
|
|
G |
Atp13a2 |
ATPase cation transporting 13A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23628791 PMID:25149416 PMID:26223426 |
RGD:10450518 |
NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
|
|
G |
Axin2 |
axin 2 |
ameliorates |
IMP |
|
RGD |
PMID:31078578 |
RGD:151356747 |
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
|
|
G |
B2m |
beta-2 microglobulin |
|
ISO |
protein:increased expression:corpus striatum |
RGD |
PMID:7605592 |
RGD:6482706 |
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
|
|
G |
Bag5 |
BAG cochaperone 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28348719 |
|
NCBI chr 6:130,768,467...130,772,122
Ensembl chr 6:130,768,141...130,772,970
|
|
G |
Bdnf |
brain-derived neurotrophic factor |
no_association |
ISO |
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 chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615
|
|
G |
Bglap |
bone gamma-carboxyglutamate protein |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:16114020 |
RGD:7207224 |
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
|
|
G |
Bst1 |
bone marrow stromal cell antigen 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19915576 |
|
NCBI chr14:67,253,706...67,270,203
Ensembl chr14:67,252,998...67,270,180
|
|
G |
Casp3 |
caspase 3 |
treatment |
ISO |
|
RGD |
PMID:16505307 |
RGD:13503345 |
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
|
|
G |
Casp9 |
caspase 9 |
|
ISO |
protein:increased activity:blood, leukocyte |
RGD |
PMID:16505307 |
RGD:13503345 |
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
|
|
G |
Cast |
calpastatin |
|
ISO |
DNA:SNP:intron: (rs1559085) (human) protein:decreased expression:substantia nigra, dopaminergic neuron |
RGD |
PMID:20127884 PMID:10722997 |
RGD:5509800, RGD:5683320 |
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
|
|
G |
Cck |
cholecystokinin |
no_association |
ISO |
|
RGD |
PMID:10668930 PMID:10668930 |
RGD:1626086, RGD:1626086 |
NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
|
|
G |
Ccn2 |
cellular communication network factor 2 |
|
IEP |
protein:increased expression:substantia nigra (rat) |
RGD |
PMID:19463894 |
RGD:2314505 |
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
|
|
G |
Ceacam6 |
CEA cell adhesion molecule 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
|
NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668
|
|
G |
Chrnb3 |
cholinergic receptor nicotinic beta 3 subunit |
susceptibility |
ISO |
DNA:SNP:promoter: c.-57A>G(human) |
RGD |
PMID:24731518 |
RGD:405849280 |
NCBI chr16:64,713,438...64,751,360
Ensembl chr16:64,714,169...64,751,360
|
|
G |
Cntnap2 |
contactin associated protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
|
NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
|
|
G |
Col19a1 |
collagen type XIX alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
|
NCBI chr 9:26,673,916...27,022,139
Ensembl chr 9:26,675,391...27,022,106
|
|
G |
Cox10 |
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 |
|
ISS |
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 |
MouseDO |
|
|
NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667
|
|
G |
Cp |
ceruloplasmin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19159062 PMID:25758665 |
|
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
|
|
G |
Creb1 |
cAMP responsive element binding protein 1 |
|
ISO |
protein:decreased phosphorylation:striatum |
RGD |
PMID:25583483 |
RGD:401960857 |
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
|
|
G |
Crh |
corticotropin releasing hormone |
|
ISO |
protein:decreased expression:cerebral cortex (human) |
RGD |
PMID:3502064 |
RGD:5508835 |
NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
|
|
G |
Cripto |
cripto, EGF-CFC family member |
treatment |
ISO |
|
RGD |
PMID:20641036 |
RGD:11561895 |
NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308
|
|
G |
Crp |
C-reactive protein |
|
ISO |
|
RGD |
PMID:22426659 |
RGD:6482307 |
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
|
|
G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
no_association susceptibility |
ISO |
DNA:missense mutation:cds:p.I462V (human) DNA:polymorphisms (human) |
RGD |
PMID:11793160 PMID:8872868 PMID:11484167 |
RGD:5147678, RGD:5147681, RGD:5147679 |
NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
|
|
G |
Cyp2d4 |
cytochrome P450, family 2, subfamily d, polypeptide 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14991823 PMID:15174030 |
|
NCBI chr 7:115,762,662...115,771,832
Ensembl chr 7:113,881,618...113,891,759
|
|
G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16510128 |
|
NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023
|
|
G |
Dbh |
dopamine beta-hydroxylase |
susceptibility |
ISO |
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 3:30,886,313...30,903,313
Ensembl chr 3:10,488,260...10,505,248
|
|
G |
Dbn1 |
drebrin 1 |
treatment |
IEP |
levodopainduced; protein:increased expression:striatum: |
RGD |
PMID:23241013 |
RGD:10398811 |
NCBI chr17:9,150,608...9,164,982
Ensembl chr17:9,150,659...9,164,984
|
|
G |
Ddc |
dopa decarboxylase |
|
IEP ISO 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 chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
|
|
G |
Ddit4 |
DNA-damage-inducible transcript 4 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17005863 |
|
NCBI chr20:27,891,989...27,894,088
Ensembl chr20:27,891,998...27,894,105
|
|
G |
Ddost |
dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Parkinson Disease, Recessive |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413
|
|
G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
treatment |
ISO |
|
RGD |
PMID:28863860 |
RGD:150519888 |
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
|
|
G |
Dlg1 |
discs large MAGUK scaffold protein 1 |
|
IEP |
protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles |
RGD |
PMID:15703272 |
RGD:2306834 |
NCBI chr11:68,911,883...69,103,230
Ensembl chr11:68,911,883...69,102,689
|
|
G |
Dlg4 |
discs large MAGUK scaffold protein 4 |
|
IEP |
protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles |
RGD |
PMID:15703272 |
RGD:2306834 |
NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
|
|
G |
Dnajb6 |
DnaJ heat shock protein family (Hsp40) member B6 |
|
ISO |
ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:5,452,683...5,556,679
Ensembl chr 4:5,452,683...5,556,659
|
|
G |
Dnajc13 |
DnaJ heat shock protein family (Hsp40) member C13 |
|
ISO |
|
RGD |
PMID:25701813 |
RGD:10450845 |
NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317
|
|
G |
Dnajc6 |
DnaJ heat shock protein family (Hsp40) member C6 |
|
ISO |
|
RGD |
PMID:25639775 |
RGD:10450521 |
NCBI chr 5:116,120,069...116,283,448
Ensembl chr 5:116,119,676...116,283,448
|
|
G |
Dnm1l |
dynamin 1-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28215578 |
|
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
|
|
G |
Draxin |
dorsal inhibitory axon guidance protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
|
NCBI chr 5:158,530,149...158,563,457
Ensembl chr 5:158,530,342...158,564,483
|
|
G |
Drd1 |
dopamine receptor D1 |
treatment |
IEP ISO IDA |
protein:decreased expression:striatum (rat) CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:8558425 PMID:16365282 PMID:23041629 |
RGD:7248455, RGD:7248595 |
NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
|
|
G |
Drd2 |
dopamine receptor D2 |
|
IEP ISS ISO |
protein:increased expression:striatum (rat) CTD Direct Evidence: therapeutic |
MouseDO CTD RGD |
PMID:8558425 PMID:18289173 |
RGD:2311585 |
NCBI chr 8:58,605,403...58,669,339
Ensembl chr 8:49,708,927...49,772,875
|
|
G |
Drd3 |
dopamine receptor D3 |
severity |
ISO |
protein:increased expression:blood, lymphocyte mRNA:decreased expression:blood, lymphocyte |
RGD |
PMID:10495037 PMID:8618685 |
RGD:5686418, RGD:5686419 |
NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596
|
|
G |
Drd5 |
dopamine receptor D5 |
|
ISO |
protein:increased expression:blood, lymphocyte |
RGD |
PMID:10495037 |
RGD:5686418 |
NCBI chr14:72,487,950...72,491,050
Ensembl chr14:72,489,347...72,490,774
|
|
G |
Edn1 |
endothelin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
|
|
G |
Egf |
epidermal growth factor |
disease_progression |
ISO |
|
RGD |
PMID:21520231 |
RGD:10059679 |
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
|
|
G |
Egfr |
epidermal growth factor receptor |
|
ISO |
protein:decreased expression:forebrain |
RGD |
PMID:15857400 |
RGD:2289955 |
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
|
|
G |
Eif2ak2 |
eukaryotic translation initiation factor 2-alpha kinase 2 |
|
ISO |
|
RGD |
PMID:15567511 |
RGD:10395348 |
NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
|
|
G |
En1 |
engrailed homeobox 1 |
|
ISO ISS |
DNA:SNP:enhancer: (rs1438852) (human) |
MouseDO RGD |
PMID:19345444 |
RGD:5687197 |
NCBI chr13:31,750,892...31,756,477
Ensembl chr13:31,751,545...31,755,943
|
|
G |
Eno2 |
enolase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30236862 |
|
NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
|
|
G |
Ephx1 |
epoxide hydrolase 1 |
no_association |
ISO |
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 chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
|
|
G |
Ephx2 |
epoxide hydrolase 2 |
no_association |
ISO |
DNA:missense mutation, insertion:exons:p.R287Q (898G>A), p.S402_R403insR (1246_1247insTCG) (human) |
RGD |
PMID:11692079 |
RGD:5688390 |
NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
|
|
G |
Epo |
erythropoietin |
treatment |
ISO |
|
RGD |
PMID:19727138 |
RGD:10400901 |
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
|
|
G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
|
ISO |
protein:decreased expression:forebrain |
RGD |
PMID:15857400 |
RGD:2289955 |
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
|
|
G |
Esr2 |
estrogen receptor 2 |
onset |
ISO |
DNA:polymorphism: :1730A>G(human) |
RGD |
PMID:15219649 |
RGD:5508776 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
|
|
G |
Fas |
Fas cell surface death receptor |
|
ISO |
protein:decreased expression:neurones of the substantia nigra pars: |
RGD |
PMID:11054182 |
RGD:12903948 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
|
|
G |
Faslg |
Fas ligand |
|
IEP ISO |
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 chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
|
|
G |
Fbp1 |
fructose-bisphosphatase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18353766 |
|
NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071
|
|
G |
Fbxo7 |
F-box protein 7 |
|
ISO |
ClinVar Annotator: match by term: Parkinson Disease, Recessive |
ClinVar RGD |
PMID:25741868 PMID:26223426 |
RGD:10450518 |
NCBI chr 7:17,809,224...17,837,549
Ensembl chr 7:17,809,231...17,837,530
|
|
G |
Fcer2 |
Fc epsilon receptor II |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
|
NCBI chr12:1,742,809...1,754,476
Ensembl chr12:1,742,815...1,754,476
|
|
G |
Fez1 |
fasciculation and elongation protein zeta 1 |
|
IEP |
|
RGD |
PMID:23888906 |
RGD:13208826 |
NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683
|
|
G |
Fgb |
fibrinogen beta chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23233872 |
|
NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
|
|
G |
Gak |
cyclin G associated kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20711177 |
|
NCBI chr14:1,089,853...1,164,098
Ensembl chr14:1,089,866...1,216,398
|
|
G |
Gba1 |
glucosylceramidase beta 1 |
no_association onset |
ISO |
DNA:missense mutations:cds:multiple (human) ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease ClinVar Annotator: match by term: Parkinson Disease, Recessive | ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.K-26R, p.K186R, p.N370S (human) DNA:missense mutation:cds:p.N370S (human) DNA:missense mutations:cds:p.E326K, p.T369M (human) |
ClinVar CTD RGD |
PMID:1348297 PMID:1704891 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1961718 PMID:1971142 PMID:1972019 PMID:2117855 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7789963 PMID:7981693 PMID:8118463 PMID:8160756 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8733893 PMID:8889578 PMID:8929950 PMID:9153297 PMID:9279145 PMID:9375849 PMID:9516376 PMID:9554746 PMID:9556036 PMID:10079102 PMID:10649495 PMID:10685993 PMID:10714667 PMID:10777718 PMID:10796875 PMID:11259172 PMID:11336129 PMID:11783951 PMID:12482401 PMID:12587096 PMID:12595585 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15352589 PMID:15605411 PMID:15826241 PMID:16293621 PMID:16967369 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19394250 PMID:19513999 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21384230 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22375149 PMID:22388998 PMID:22429443 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:23699752 PMID:23719189 PMID:23757202 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24482953 PMID:24522292 PMID:24756352 PMID:25064009 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25525159 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25933391 PMID:25946768 PMID:26096741 PMID:26296077 PMID:26467025 PMID:26792850 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:30146349 PMID:30169122 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:31130284 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32035846 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:21242499 PMID:24126159 PMID:25639775 PMID:26223426 PMID:19945510 PMID:20528910 PMID:20947659 More...
|
RGD:5508422, RGD:12791016, RGD:10450521, RGD:10450518, RGD:5508429, RGD:5508427, RGD:5508425 |
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
|
|
G |
Gdf5 |
growth differentiation factor 5 |
treatment |
ISO IEP |
mRNA:increased expression:striatum: |
RGD |
PMID:22436046 PMID:24373993 |
RGD:12738227, RGD:12738228 |
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
|
|
G |
Gdnf |
glial cell derived neurotrophic factor |
|
ISO |
mRNA:increased expression:putamen CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:11031079 PMID:16324109 PMID:16644101 |
RGD:6218968 |
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
|
|
G |
Gfap |
glial fibrillary acidic protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
|
|
G |
Gjc2 |
gap junction protein, gamma 2 |
treatment |
IEP |
|
RGD |
PMID:21561882 |
RGD:13208520 |
NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
|
|
G |
Gpr37 |
G protein-coupled receptor 37 |
|
ISO |
|
RGD |
PMID:14991825 |
RGD:13504666 |
NCBI chr 4:54,138,860...54,160,927
Ensembl chr 4:54,138,870...54,161,001
|
|
G |
Grk2 |
G protein-coupled receptor kinase 2 |
|
IEP |
Protein: decreased expression: brain |
RGD |
PMID:17996024 |
RGD:5685370 |
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
|
|
G |
Grk3 |
G protein-coupled receptor kinase 3 |
|
IEP |
protein:decreased expression:caudate putamen (rat) |
RGD |
PMID:17996024 |
RGD:5685370 |
NCBI chr12:43,624,778...43,735,375
Ensembl chr12:43,624,897...43,731,262
|
|
G |
Grk5 |
G protein-coupled receptor kinase 5 |
no_association |
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 chr 1:260,028,269...260,223,699
Ensembl chr 1:260,028,242...260,218,701
|
|
G |
Grk6 |
G protein-coupled receptor kinase 6 |
|
ISO IEP |
human gene in rat model protein: decreased expression: brain |
RGD |
PMID:22090514 PMID:17996024 |
RGD:5684916, RGD:5685370 |
NCBI chr17:9,177,018...9,192,813
Ensembl chr17:9,177,019...9,192,644
|
|
G |
Grn |
granulin precursor |
no_association |
ISO |
protein:decreased expression:serum DNA:SNP:3' utr:*78C>T (rs5848) (human) |
RGD |
PMID:23398167 PMID:19473366 |
RGD:10401642, RGD:10401644 |
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
|
|
G |
Gsk3b |
glycogen synthase kinase 3 beta |
treatment |
IDA |
|
RGD |
PMID:23094836 |
RGD:10045553 |
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
|
|
G |
Gsta4 |
glutathione S-transferase alpha 4 |
|
ISO |
mRNA:increased expression:striatum (mouse) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16510128 PMID:20964710 |
RGD:5687772 |
NCBI chr 8:79,066,967...79,084,193
Ensembl chr 8:79,066,934...79,084,182
|
|
G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility no_association onset |
ISO |
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 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
|
|
G |
Gsto1 |
glutathione S-transferase omega 1 |
onset susceptibility |
ISO |
DNA:polymorphism:exon:p. A140D (rs4925) (human) |
RGD |
PMID:14570706 PMID:17194543 |
RGD:1358651, RGD:5490299 |
NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468
|
|
G |
Gsto2 |
glutathione S-transferase omega 2 |
susceptibility onset |
ISO |
DNA:polymorphism: : -183 A>G (rs2297235)(human) DDNA:polymorphism: : -183 A>G (rs2297235)(human) |
RGD |
PMID:17194543 PMID:14570706 |
RGD:5490299, RGD:1358651 |
NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866
|
|
G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
DNA:del: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17190945 PMID:23721876 PMID:9802272 |
RGD:1358669 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
|
|
G |
Gstt1 |
glutathione S-transferase theta 1 |
|
ISO |
DNA:deletion: : |
RGD |
PMID:10953187 |
RGD:5490165 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
|
|
G |
Hbb |
hemoglobin subunit beta |
|
ISO |
protein:decreased expression:brain, mitochondrion |
RGD |
PMID:24333691 |
RGD:10449046 |
NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
|
|
G |
Hbg1 |
hemoglobin subunit gamma 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
|
NCBI chr 1:158,271,871...158,273,426
Ensembl chr 1:158,271,873...158,273,425
|
|
G |
Hcn3 |
hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 |
|
IEP |
mRNA:increased expression:neuron: |
RGD |
PMID:19320057 |
RGD:9693679 |
NCBI chr 2:174,551,861...174,567,459
Ensembl chr 2:174,551,680...174,565,966
|
|
G |
Hfe |
homeostatic iron regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16824219 |
|
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
|
|
G |
Hgf |
hepatocyte growth factor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16791285 |
|
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
|
|
G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
ISO |
|
RGD |
PMID:18184918 |
RGD:5508459 |
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
|
|
G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21318773 |
|
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
|
|
G |
Hnmt |
histamine N-methyltransferase |
no_association |
ISO |
|
RGD |
PMID:19773194 PMID:17985251 |
RGD:5509775, RGD:5509778 |
NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
|
|
G |
Hsf1 |
heat shock transcription factor 1 |
treatment |
IDA IEP |
protein:decreased expression:midbrain (rat) |
RGD |
PMID:24852355 PMID:24296154 |
RGD:10402545, RGD:10402753 |
NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
|
|
G |
Hspa1a |
heat shock protein family A (Hsp70) member 1A |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15585408 |
|
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
|
|
G |
Hspa4 |
heat shock protein family A (Hsp70) member 4 |
|
IEP |
protein:decreased expression:striatum (rat) |
RGD |
PMID:22186119 |
RGD:5686884 |
NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
|
|
G |
Hspa8 |
heat shock protein family A (Hsp70) member 8 |
|
ISO IEP |
protein: decreased expression protein: increased expression: brain |
RGD |
PMID:20697033 PMID:17241115 PMID:18704197 |
RGD:6218982, RGD:6480228, RGD:6480203 |
NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
|
|
G |
Hspa9 |
heat shock protein family A (Hsp70) member 9 |
disease_progression |
ISO |
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 chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
|
|
G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
|
IEP |
|
RGD |
PMID:23943523 |
RGD:10402846 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
|
|
G |
Htr1a |
5-hydroxytryptamine receptor 1A |
|
IMP |
|
RGD |
PMID:20508280 |
RGD:5683633 |
NCBI chr 2:36,693,462...36,698,026
Ensembl chr 2:36,694,174...36,695,442
|
|
G |
Htra2 |
HtrA serine peptidase 2 |
no_association |
ISO |
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...
|
RGD:5688367, RGD:5688714, RGD:5688395, RGD:5688394, RGD:5688393, RGD:5688392, RGD:5688381 |
NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
|
|
G |
Htt |
huntingtin |
|
ISO |
|
RGD |
PMID:26192120 |
RGD:13452383 |
NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070
|
|
G |
Igf1r |
insulin-like growth factor 1 receptor |
|
IMP ISO |
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 chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
|
|
G |
Igf2 |
insulin-like growth factor 2 |
|
ISO |
mRNA:decreased expression:frontal cortex CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19276553 PMID:19276553 |
RGD:5129515 |
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
|
|
G |
Igf2r |
insulin-like growth factor 2 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
|
|
G |
Il1b |
interleukin 1 beta |
|
ISO IDA |
|
RGD |
PMID:12070246 PMID:23159314 |
RGD:1358742, RGD:7175549 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
|
|
G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21318773 |
|
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
|
|
G |
Ins2 |
insulin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
|
|
G |
Insr |
insulin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
|
|
G |
Kcnj4 |
potassium inwardly-rectifying channel, subfamily J, member 4 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18619942 |
|
NCBI chr 7:111,047,097...111,074,151
Ensembl chr 7:111,047,094...111,074,151
|
|
G |
Kcnn2 |
potassium calcium-activated channel subfamily N member 2 |
|
ISS |
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 |
MouseDO |
|
|
NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347
|
|
G |
Klk6 |
kallikrein related-peptidase 6 |
|
ISO |
|
RGD |
PMID:12928483 |
RGD:1358597 |
NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121
|
|
G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
|
RGD |
PMID:19995872 |
RGD:6483033 |
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
|
|
G |
Lep |
leptin |
treatment |
IDA |
rat protein in a mouse model |
RGD |
PMID:17895242 |
RGD:10053631 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
|
|
G |
Lrrk2 |
leucine-rich repeat kinase 2 |
susceptibility no_association |
ISO |
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: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:16333314 PMID:16401756 PMID:16436781 PMID:16436782 PMID:16533964 PMID:16633828 PMID:16728648 PMID:16750377 PMID:16960813 PMID:16966501 PMID:16966502 PMID:17019612 PMID:17050822 PMID:17060595 PMID:17215492 PMID:17353388 PMID:17388990 PMID:17659642 PMID:17938369 PMID:18412265 PMID:18539534 PMID:18539535 PMID:18688798 PMID:18704525 PMID:18716801 PMID:18781329 PMID:18981379 PMID:18986508 PMID:19020907 PMID:19283415 PMID:19357115 PMID:19699188 PMID:19741132 PMID:19800393 PMID:19915575 PMID:19915576 PMID:20008657 PMID:20186690 PMID:20197411 PMID:20205471 PMID:20301387 PMID:20413974 PMID:20642453 PMID:21048939 PMID:21115957 PMID:21280089 PMID:21641848 PMID:21753163 PMID:21850687 PMID:21885347 PMID:21989859 PMID:22043175 PMID:22539006 PMID:22575234 PMID:22612223 PMID:23017109 PMID:23075850 PMID:23472874 PMID:23628791 PMID:24033266 PMID:24148854 PMID:24243757 PMID:25027012 PMID:25149416 PMID:25243190 PMID:25330418 PMID:25475535 PMID:25631236 PMID:25741868 PMID:26062626 PMID:26251043 PMID:26467025 PMID:26930193 PMID:28103901 PMID:28465860 PMID:28492532 PMID:28639421 PMID:29309488 PMID:29386392 PMID:29402177 PMID:30592623 PMID:31731261 PMID:32613234 PMID:21989859 PMID:25639775 PMID:26223426 PMID:20720502 PMID:20669305 PMID:20721916 PMID:21159540 PMID:21167764 PMID:21483109 PMID:21954089 More...
|
RGD:5508399, RGD:10450521, RGD:10450518, RGD:5508420, RGD:5508416, RGD:5508415, RGD:5508409, RGD:5508408, RGD:5508406, RGD:5508404 |
NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
|
|
G |
Mag |
myelin-associated glycoprotein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656
|
|
G |
Maoa |
monoamine oxidase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17449559 |
|
NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593
|
|
G |
Maob |
monoamine oxidase B |
|
IEP ISO |
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:5,907,327...6,010,996
Ensembl chr X:5,907,266...6,011,003
|
|
G |
Map2 |
microtubule-associated protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30236862 |
|
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
|
|
G |
Map3k5 |
mitogen-activated protein kinase kinase kinase 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21815648 |
|
NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800
|
|
G |
Mapk1 |
mitogen activated protein kinase 1 |
|
ISO |
protein:decreased phosphorylation:striatum |
RGD |
PMID:25583483 |
RGD:401960857 |
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616
|
|
G |
Mapk3 |
mitogen activated protein kinase 3 |
|
ISO |
protein:decreased phosphorylation:striatum |
RGD |
PMID:25583483 |
RGD:401960857 |
NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:181,366,637...181,372,863
|
|
G |
Mapt |
microtubule-associated protein tau |
susceptibility |
ISO |
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:2273997 PMID:8673924 PMID:9382467 PMID:9629852 PMID:9641683 PMID:9736786 PMID:9789048 PMID:9824291 PMID:9973279 PMID:10100642 PMID:10214944 PMID:10219785 PMID:10514099 PMID:10627302 PMID:10767321 PMID:10797541 PMID:10820221 PMID:10821687 PMID:10932182 PMID:11013246 PMID:11102510 PMID:11115852 PMID:11117542 PMID:11159174 PMID:11255441 PMID:11278002 PMID:11402146 PMID:11756436 PMID:11889249 PMID:12368474 PMID:12473404 PMID:12876142 PMID:14517953 PMID:15178938 PMID:15178940 PMID:15489396 PMID:15831501 PMID:16495230 PMID:17526496 PMID:18284428 PMID:18587238 PMID:18803694 PMID:18992292 PMID:19304664 PMID:19458322 PMID:19659892 PMID:19915575 PMID:20301678 PMID:20377816 PMID:20561037 PMID:20634584 PMID:20711177 PMID:21339331 PMID:21849646 PMID:22022446 PMID:22723997 PMID:22787795 PMID:23105105 PMID:23338682 PMID:23383383 PMID:23727082 PMID:24150109 PMID:25319522 PMID:25592136 PMID:25741868 PMID:25942996 PMID:26028272 PMID:26220942 PMID:26269332 PMID:26467025 PMID:26519432 PMID:27439681 PMID:28268100 PMID:28492532 PMID:30528841 PMID:32843152 PMID:19879020 PMID:22221882 PMID:18785640 PMID:18162161 More...
|
RGD:8158095, RGD:8158107, RGD:8158106, RGD:8158096 |
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
|
|
G |
Minar2 |
membrane integral NOTCH2 associated receptor 2 |
|
ISS |
|
MouseDO |
|
|
NCBI chr18:52,539,714...52,554,465
Ensembl chr18:52,539,917...52,554,461
|
|
G |
Mir1 |
microRNA 1 |
|
ISO |
|
RGD |
PMID:21295623 |
RGD:10755488 |
NCBI chr18:1,887,537...1,887,623
|
|
G |
Mir106a |
microRNA 106a |
|
ISO |
|
RGD |
PMID:25553963 |
RGD:10450788 |
NCBI chr X:132,422,584...132,422,661
Ensembl chr X:132,422,584...132,422,661
|
|
G |
Mir132 |
microRNA 132 |
|
ISO |
|
RGD |
PMID:25553963 |
RGD:10450788 |
NCBI chr10:60,023,696...60,023,796
Ensembl chr10:60,023,696...60,023,796
|
|
G |
Mir155 |
microRNA 155 |
|
IEP |
RNA:increased expression: plasma extracellular vesicle |
RGD |
PMID:32326590 |
RGD:41404531 |
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718
|
|
G |
Mir181c |
microRNA 181c |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28770951 |
|
NCBI chr19:23,983,523...23,983,628
Ensembl chr19:23,983,523...23,983,628
|
|
G |
Mir19b1 |
microRNA 19b-1 |
|
ISO |
|
RGD |
PMID:22003392 |
RGD:10755479 |
NCBI chr15:92,181,214...92,181,300
Ensembl chr15:92,181,214...92,181,300
|
|
G |
Mir21 |
microRNA 21 |
|
IEP |
RNA:increased expression: plasma extracellular vesicle |
RGD |
PMID:32326590 |
RGD:41404531 |
NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
|
|
G |
Mir210 |
microRNA 210 |
|
IEP |
RNA:increased expression: plasma extracellular vesicle |
RGD |
PMID:32326590 |
RGD:41404531 |
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
|
|
G |
Mir22 |
microRNA 22 |
|
ISO |
|
RGD |
PMID:21295623 |
RGD:10755488 |
NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133
|
|
G |
Mir29b1 |
microRNA 29b-1 |
|
ISO |
|
RGD |
PMID:22003392 |
RGD:10755479 |
NCBI chr 4:59,650,987...59,651,067
Ensembl chr 4:59,650,986...59,651,067
|
|
G |
Mir301a |
microRNA 301a |
|
ISO |
|
RGD |
PMID:22003392 |
RGD:10755479 |
NCBI chr10:71,925,336...71,925,435
Ensembl chr10:71,925,336...71,925,435
|
|
G |
Mir34b |
microRNA 34b |
|
ISO |
|
RGD |
PMID:21558425 |
RGD:10755477 |
NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
|
|
G |
Mir34c |
microRNA 34c |
|
ISO |
|
RGD |
PMID:21558425 |
RGD:10755477 |
NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
|
|
G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
susceptibility |
ISO |
DNA:SNP:cds:m.9055A>G (human) |
RGD |
PMID:12618962 |
RGD:5490292 |
NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
|
|
G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
no_association |
ISO |
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:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
|
|
G |
Mt-nd2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
|
ISO |
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:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
|
|
G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
|
ISO IMP |
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:25741868 PMID:15975594 PMID:21291942 PMID:21484267 More...
|
RGD:5491206, RGD:5687692, RGD:5687691 |
NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
|
|
G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
ISO |
DNA:missense mutations: :11253T>C, 12084C>T (human) |
RGD |
PMID:10737123 |
RGD:5507832 |
NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
|
|
G |
Mta1 |
metastasis associated 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27044752 |
|
NCBI chr 6:132,178,608...132,217,641
Ensembl chr 6:132,178,853...132,217,641
|
|
G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30726997 |
|
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
|
|
G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
susceptibility |
ISO |
DNA:polymorphism: :1049A>G (human) |
RGD |
PMID:21070756 |
RGD:5508183 |
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
|
|
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 chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116
|
|
G |
Nat2 |
N-acetyltransferase 2 |
susceptibility |
ISO |
DNA:polymorphism |
RGD |
PMID:9343502 |
RGD:2303766 |
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
|
|
G |
Ncapg2 |
non-SMC condensin II complex, subunit G2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
|
NCBI chr 6:137,342,449...137,418,083
Ensembl chr 6:137,342,943...137,415,159
|
|
G |
Ndufa13 |
NADH:ubiquinone oxidoreductase subunit A13 |
|
ISO |
|
RGD |
PMID:26605748 |
RGD:13504667 |
NCBI chr16:19,526,633...19,533,567
Ensembl chr16:19,526,565...19,535,726 Ensembl chr 7:19,526,565...19,535,726
|
|
G |
Ndufb8 |
NADH:ubiquinone oxidoreductase subunit B8 |
|
ISO |
|
RGD |
PMID:26605748 |
RGD:13504667 |
NCBI chr 1:243,408,656...243,413,715
Ensembl chr 1:243,408,619...243,413,817
|
|
G |
Ndufs1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
onset |
ISO |
protein:increased oxidation:brain, mitochondrion (mouse) |
RGD |
PMID:21196577 |
RGD:6484690 |
NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893
|
|
G |
Ndufs4 |
NADH:ubiquinone oxidoreductase subunit S4 |
|
ISO |
|
RGD |
PMID:21383081 |
RGD:6484691 |
NCBI chr 2:45,951,327...46,061,829
Ensembl chr 2:45,951,313...46,061,846
|
|
G |
Ndufv2 |
NADH:ubiquinone oxidoreductase core subunit V2 |
susceptibility |
ISO |
DNA:polymorphism: :p.A29V |
RGD |
PMID:9570948 |
RGD:2302386 |
NCBI chr 9:105,690,454...105,710,669
Ensembl chr 9:105,690,455...105,710,713
|
|
G |
Nectin2 |
nectin cell adhesion molecule 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
|
NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
|
|
G |
Nedd8 |
NEDD8 ubiquitin like modifier |
|
ISO |
|
RGD |
PMID:12533840 |
RGD:1549458 |
NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160
|
|
G |
Nefl |
neurofilament light chain |
|
ISO |
protein:increased expression:CSF (human) |
RGD |
PMID:29391125 |
RGD:127285384 |
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
|
|
G |
Ngf |
nerve growth factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276553 |
|
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
|
|
G |
Ngfr |
nerve growth factor receptor |
|
ISO |
protein:decreased expression:brain |
RGD |
PMID:8347330 |
RGD:10413896 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
|
|
G |
Nos1 |
nitric oxide synthase 1 |
|
ISO |
RNA, protein:increased expression:neutrophil CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:26383258 PMID:11020342 PMID:11809160 |
RGD:5132632, RGD:1358519 |
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
|
|
G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
protein:increased expression:striatum (mouse) |
RGD |
PMID:21970803 |
RGD:5509573 |
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
|
|
G |
Nox1 |
NADPH oxidase 1 |
ameliorates |
IMP |
|
RGD |
PMID:23077033 |
RGD:329961565 |
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
|
|
G |
Np4 |
defensin NP-4 precursor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25475535 |
|
NCBI chr16:70,494,607...70,497,261
Ensembl chr16:70,342,529...70,497,202
|
|
G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17188257 |
|
NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557
|
|
G |
Nqo2 |
N-ribosyldihydronicotinamide:quinone dehydrogenase 2 |
susceptibility |
ISO |
DNA:deletion:promoter: (human) |
RGD |
PMID:18314446 |
RGD:11073691 |
NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320
|
|
G |
Nr4a1 |
nuclear receptor subfamily 4, group A, member 1 |
treatment |
IMP |
compared to wild-type and untreated |
RGD |
PMID:29530712 |
RGD:40924655 |
NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
|
|
G |
Nr4a1m1Mcwi |
nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin |
treatment |
IMP |
compared to wild-type and untreated |
RGD |
PMID:29530712 |
RGD:40924655 |
|
|
G |
Nr4a2 |
nuclear receptor subfamily 4, group A, member 2 |
|
ISO ISS |
DNA:insertion:intron:g.7048_7049insG (human) ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive | ClinVar Annotator: match by term: Parkinson's disease OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 |
ClinVar MouseDO RGD |
PMID:23066323 PMID:28492532 PMID:11914402 |
RGD:1358553 |
NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
|
|
G |
Ntsr1 |
neurotensin receptor 1 |
|
ISO |
|
RGD |
PMID:7700529 |
RGD:9743906 |
NCBI chr 3:167,606,215...167,656,371
Ensembl chr 3:167,606,215...167,656,377
|
|
G |
Ogg1 |
8-oxoguanine DNA glycosylase |
|
ISO |
protein:increased expression:substantia nigra, neuron |
RGD |
PMID:15841414 |
RGD:8657142 |
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
|
|
G |
Optn |
optineurin |
|
IEP |
protein:increased expression:substantia nigra (rat) |
RGD |
PMID:27473339 |
RGD:13432580 |
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
|
|
G |
Orc6 |
origin recognition complex, subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Parkinson Disease, Dominant |
ClinVar |
PMID:25741868 |
|
NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662
|
|
G |
Park7 |
Parkinsonism associated deglycase |
onset |
ISO IMP |
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:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:12851414 PMID:24157858 PMID:23766857 More...
|
RGD:1601073, RGD:12880446, RGD:10450523 |
NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
|
|
G |
Park7em1Sage |
parkinson protein 7; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs |
|
IMP |
|
RGD |
PMID:24157858 |
RGD:12880446 |
|
|
G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
susceptibility no_association |
ISO |
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 chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
|
|
G |
Penk |
proenkephalin |
|
IEP |
mRNA:increased expression:striatum: |
RGD |
PMID:11501038 |
RGD:10003114 |
NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129
|
|
G |
Phactr2 |
phosphatase and actin regulator 2 |
|
ISO |
DNA: snp: intron: rs11155313 |
RGD |
PMID:19429005 |
RGD:6483095 |
NCBI chr 1:7,591,254...7,860,431
Ensembl chr 1:7,597,927...7,860,289
|
|
G |
Pink1 |
PTEN induced kinase 1 |
|
ISO IMP |
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...
|
RGD:10450518, RGD:11560775, RGD:12880446, RGD:10450521 |
NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
|
|
G |
Pink1em1Sage |
PTEN induced putative kinase 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs |
|
IMP |
|
RGD |
PMID:24157858 PMID:25421206 |
RGD:12880446, RGD:11560775 |
|
|
G |
Pitx3 |
paired-like homeodomain 3 |
model |
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 chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892
|
|
G |
Pla2g6 |
phospholipase A2 group VI |
onset no_association |
ISO |
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 chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
|
|
G |
Polg |
DNA polymerase gamma, catalytic subunit |
onset |
ISO |
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 chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
|
|
G |
Ppargc1a |
PPARG coactivator 1 alpha |
onset |
ISO ISS |
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 chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
|
|
G |
Ppp1r9b |
protein phosphatase 1, regulatory subunit 9B |
|
IEP |
protein:altered localization:striate nucleus (rat) |
RGD |
PMID:18372251 |
RGD:10043801 |
NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083
|
|
G |
Ppp2ca |
protein phosphatase 2 catalytic subunit alpha |
|
ISO |
protein:decreased tyrosine phosphorylation:brain (human) |
RGD |
PMID:24395787 |
RGD:8693390 |
NCBI chr10:36,358,110...36,377,864
Ensembl chr10:36,358,101...36,377,862
|
|
G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
treatment |
ISO IDA |
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism protein:increased tyrosine-phosphorylation:substantia nigra, striatum, DNA:deletions:exons: (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:12629236 PMID:28526446 PMID:28583715 PMID:28695462 PMID:25639775 PMID:26223426 PMID:20823226 PMID:16914382 PMID:9560156 More...
|
RGD:737763, RGD:13432567, RGD:13432563, RGD:13432207, RGD:10450521, RGD:10450518, RGD:8693409, RGD:10413859, RGD:9693725 |
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
|
|
G |
Ptgis |
prostaglandin I2 synthase |
treatment |
ISO |
human gene in a rat model |
RGD |
PMID:23691265 |
RGD:401959749 |
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
|
|
G |
Ptn |
pleiotrophin |
treatment |
IDA |
|
RGD |
PMID:19615368 |
RGD:10044022 |
NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456
|
|
G |
Rab32 |
RAB32, member RAS oncogene family |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38858457 |
|
NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934
|
|
G |
Rpl14 |
ribosomal protein L14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18353766 |
|
NCBI chr 8:120,286,035...120,289,160
Ensembl chr 8:120,284,645...120,289,064
|
|
G |
Rpl23a |
ribosomal protein L23A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18353766 |
|
NCBI chr10:63,076,660...63,079,346
Ensembl chr10:63,076,066...63,079,346 Ensembl chr15:63,076,066...63,079,346
|
|
G |
Rpl6 |
ribosomal protein L6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18353766 |
|
NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921
|
|
G |
Rps8 |
ribosomal protein S8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18353766 |
|
NCBI chr 5:130,630,362...130,632,932
Ensembl chr 5:130,629,716...130,633,268
|
|
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 |
|
|
NCBI chr10:2,129,949...2,165,381
Ensembl chr10:2,129,978...2,165,663
|
|
G |
RT1-Da |
RT1 class II, locus Da |
onset |
ISO |
DNA:SNP:intron: (rs3129882) (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20711177 PMID:20711177 |
RGD:5490158 |
NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
|
|
G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
ISO |
DNA:polymorphism: :HLA-DRB1*03 (human) |
RGD |
PMID:20462916 |
RGD:5147576 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
|
|
G |
S100b |
S100 calcium binding protein B |
|
ISO |
|
RGD |
PMID:21725169 |
RGD:5508763 |
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
|
|
G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
protein:decreased expression:substantia nigra, neuron |
RGD |
PMID:26605748 |
RGD:13504667 |
NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
|
|
G |
Septin14 |
septin 14 |
susceptibility |
ISO |
DNA:SNPs:promoter:rs10241628, rs11981883, rs77231105 (human) |
RGD |
PMID:27115672 |
RGD:13504669 |
NCBI chr12:26,975,283...27,005,588
Ensembl chr12:26,975,344...26,998,299
|
|
G |
Septin4 |
septin 4 |
|
ISO |
|
RGD |
PMID:12695511 |
RGD:13504670 |
NCBI chr10:72,366,729...72,390,764
Ensembl chr10:72,366,873...72,390,768
|
|
G |
Serpinf1 |
serpin family F member 1 |
severity |
ISO |
protein:increased expression:serum, extracellular exosome (human) |
RGD |
PMID:31593110 |
RGD:27226691 |
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
|
|
G |
Slc11a2 |
solute carrier family 11 member 2 |
|
ISO |
DNA:polymorphism:cds:1254T>C(human) |
RGD |
PMID:21777657 PMID:19011085 |
RGD:5688403, RGD:5688713 |
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
|
|
G |
Slc18a2 |
solute carrier family 18 member A2 |
resistance |
IEP ISO IMP |
mRNA:decreased expression:substantia nigra (rat) CTD Direct Evidence: marker/mechanism protein:decreased expression:putamen, caudate nucleus, striatum (human) DNA:snps:5' utr:g.-103C>A, g.-74C>T, g.-62G>A (human) |
CTD RGD |
PMID:16112329 PMID:34774656 PMID:21291984 PMID:16269145 PMID:16421508 PMID:11463816 PMID:16339215 More...
|
RGD:5131086, RGD:5129143, RGD:5131167, RGD:5131163, RGD:5131165 |
NCBI chr 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325
|
|
G |
Slc30a10 |
solute carrier family 30, member 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25149416 |
|
NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
|
|
G |
Slc38a2 |
solute carrier family 38, member 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:35728354 |
|
NCBI chr 7:127,851,267...127,863,482
Ensembl chr 7:127,851,267...127,863,436
|
|
G |
Slc6a3 |
solute carrier family 6 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9763484 PMID:16112329 PMID:16963468 PMID:19590691 |
|
NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
|
|
G |
Snca |
synuclein alpha |
|
ISO 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:23669636 PMID:24047453 PMID:24509835 PMID:24752924 PMID:24833599 PMID:24936070 PMID:24984882 PMID:25064009 PMID:25106480 PMID:25149416 PMID:25393002 PMID:25475535 PMID:25505181 PMID:25631236 PMID:25741868 PMID:26076669 PMID:26341711 PMID:27573854 PMID:28492532 PMID:29398121 PMID:30528390 PMID:31980526 PMID:31996268 PMID:10678833 PMID:18625222 PMID:18178617 PMID:25639775 PMID:26223426 PMID:26501339 PMID:9197268 PMID:9462735 PMID:10651022 PMID:17448146 PMID:12122208 More...
|
RGD:1302527, RGD:13506723, RGD:13506646, RGD:10450521, RGD:10450518, RGD:10450517, RGD:6480197, RGD:6480196, RGD:6480094, RGD:6478794, RGD:730239 |
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
|
|
G |
Sncaip |
synuclein, alpha interacting protein |
|
ISO |
ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive |
ClinVar |
PMID:12761037 PMID:18366718 PMID:21344240 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr18:46,205,846...46,343,932
Ensembl chr18:46,207,152...46,343,929
|
|
G |
Sncb |
synuclein, beta |
onset |
ISO |
DNA:SNP: :rs1352303(human) protein:increased expression:hippocampus |
RGD |
PMID:17556099 PMID:10557341 |
RGD:6478793, RGD:6480095 |
NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
|
|
G |
Sncg |
synuclein, gamma |
|
ISO |
protein:increased expression:hippocampus |
RGD |
PMID:10557341 |
RGD:6480095 |
NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
|
|
G |
Sod1 |
superoxide dismutase 1 |
treatment |
ISO |
human gene in a rat model CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:16353238 PMID:21318773 PMID:16353238 |
RGD:8655933 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
|
|
G |
Sod2 |
superoxide dismutase 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17188257 PMID:18353766 PMID:25279756 PMID:11161607 |
RGD:13464352 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
|
|
G |
Spr |
sepiapterin reductase |
|
ISS |
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 |
MouseDO |
|
|
NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678
|
|
G |
Srrm2 |
serine/arginine repetitive matrix 2 |
|
ISO |
mRNA:splice variants:substantia nigra, amygdala, peripheral blood mononuclear cell (human) |
RGD |
PMID:20161708 |
RGD:11038728 |
NCBI chr10:12,815,471...12,848,750
Ensembl chr10:12,815,471...12,848,751
|
|
G |
Synj1 |
synaptojanin 1 |
|
ISO |
|
RGD |
PMID:25639775 |
RGD:10450521 |
NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220
|
|
G |
Taldo1 |
transaldolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23233872 |
|
NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
|
|
G |
Tardbp |
TAR DNA binding protein |
|
ISO |
DNA:mutation:cds:p.A382T (human) |
RGD |
PMID:21667065 PMID:20551689 |
RGD:5687172, RGD:5687183 |
NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
|
|
G |
Tcn2 |
transcobalamin 2 |
|
ISO |
|
RGD |
PMID:20027219 |
RGD:11060125 |
NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
|
|
G |
Tfam |
transcription factor A, mitochondrial |
susceptibility no_association |
ISO 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 chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
|
|
G |
Th |
tyrosine hydroxylase |
|
IMP ISO IEP |
CTD Direct Evidence: marker/mechanism human gene in a rat model protein:decreased expression:substantia nigra (mouse) protein:decreased expression:midbrain, neuron (rat) protein:decreased expression:striatum (human) |
CTD RGD |
PMID:30236862 PMID:2573072 PMID:9853519 PMID:21323909 PMID:21376343 PMID:15857400 More...
|
RGD:5129120, RGD:5129121, RGD:5128616, RGD:5128607, RGD:2289955 |
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
|
|
G |
Tmem230 |
transmembrane protein 230 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27270108 |
|
NCBI chr 3:119,473,109...119,497,617
Ensembl chr 3:119,480,735...119,497,614
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21318773 |
|
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
|
|
G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
|
ISO |
mRNA:decreased expression:midbrain, dopaminergic neuron (mouse) |
RGD |
PMID:19780901 |
RGD:5130931 |
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
|
|
G |
Tnk2 |
tyrosine kinase, non-receptor, 2 |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease |
ClinVar |
PMID:23686771 PMID:25741868 PMID:26595808 PMID:28492532 |
|
NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009
|
|
G |
Tnr |
tenascin R |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease |
ClinVar |
PMID:26122175 PMID:26595808 PMID:28492532 PMID:33278868 |
|
NCBI chr13:71,751,714...72,172,731
Ensembl chr13:72,091,585...72,167,641
|
|
G |
Trpm2 |
transient receptor potential cation channel, subfamily M, member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27957685 |
|
NCBI chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181
|
|
G |
Twnk |
twinkle mtDNA helicase |
|
ISS |
|
MouseDO |
|
|
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
|
|
G |
Uchl1 |
ubiquitin C-terminal hydrolase L1 |
|
ISO |
ClinVar Annotator: match by term: Parkinson Disease, Dominant |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590
|
|
G |
Vdac1 |
voltage-dependent anion channel 1 |
|
ISO |
|
RGD |
PMID:24825319 |
RGD:13504672 |
NCBI chr10:36,532,306...36,559,642
Ensembl chr10:36,532,244...36,559,640
|
|
G |
Vdr |
vitamin D receptor |
onset |
ISO |
DNA:polymorphisms: :rs4334089, rs2853559(human) |
RGD |
PMID:21309754 |
RGD:13217419 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
|
|
G |
Vip |
vasoactive intestinal peptide |
|
ISO |
|
RGD |
PMID:19476518 |
RGD:5685606 |
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
|
|
G |
Vps13c |
vacuolar protein sorting 13 homolog C |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease |
ClinVar |
PMID:25741868 PMID:26942284 |
|
NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895
|
|
G |
Vps35 |
VPS35 retromer complex component |
|
ISO ISS |
ClinVar Annotator: match by term: Parkinson Disease, Dominant | ClinVar Annotator: match by term: Parkinson disease CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:25149416 PMID:25741868 PMID:28492532 PMID:26223426 PMID:25701813 PMID:25639775 More...
|
RGD:10450518, RGD:10450845, RGD:10450521 |
NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618
|
|
|
G |
Mmrn1 |
multimerin 1 |
|
ISO |
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...
|
|
NCBI chr 4:89,875,408...89,950,814
Ensembl chr 4:89,903,174...89,950,474
|
|
G |
Snca |
synuclein alpha |
|
ISO ISS |
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1 OMIM:168601 |
OMIM ClinVar MouseDO |
PMID:9197268 PMID:9462735 PMID:9499430 PMID:9506559 PMID:9827625 PMID:10417297 PMID:10482268 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:23669636 PMID:24047453 PMID:24158904 PMID:24158909 PMID:24313877 PMID:24315198 PMID:24728187 PMID:24746362 PMID:24936070 PMID:24984882 PMID:25268550 PMID:25393002 PMID:25505181 PMID:25741868 PMID:25892596 PMID:26076669 PMID:26306801 PMID:26341711 PMID:26799529 PMID:26858591 PMID:27066564 PMID:27393118 PMID:27573854 PMID:28012952 PMID:28416701 PMID:28492532 PMID:28666710 PMID:29233723 PMID:29398121 PMID:30423204 PMID:30528390 PMID:31267130 PMID:31980526 PMID:31996268 PMID:33617693 More...
|
|
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
|
|
|
G |
Gigyf2 |
GRB10 interacting GYF protein 2 |
|
ISO |
ClinVar Annotator: match by term: GIGYF2-related condition | ClinVar Annotator: match by term: Parkinson disease 11, autosomal dominant, susceptibility to CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:18358451 PMID:18923002 PMID:19133664 PMID:19250854 PMID:19279319 PMID:19449032 PMID:19638301 PMID:20060621 PMID:24033266 PMID:25174650 PMID:25326637 PMID:25741868 PMID:26152800 More...
|
|
NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715
|
|
|
G |
Aup1 |
AUP1, lipid droplet regulating VLDL assembly factor |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to |
ClinVar |
PMID:18401856 PMID:18790661 PMID:25741868 |
|
NCBI chr 4:115,560,274...115,563,346
Ensembl chr 4:115,560,261...115,563,346
|
|
G |
Htra2 |
HtrA serine peptidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to |
OMIM CTD ClinVar |
PMID:15961413 PMID:18364387 PMID:18401856 PMID:18790661 PMID:19118185 PMID:21163861 PMID:21338583 PMID:21701785 PMID:25422467 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
|
|
G |
Loxl3 |
lysyl oxidase-like 3 |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to |
ClinVar |
PMID:15961413 PMID:18364387 PMID:18790661 PMID:19118185 PMID:21163861 PMID:25422467 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466
|
|
|
G |
Pla2g6 |
phospholipase A2 group VI |
|
ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive Parkinson disease 14 | ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET OMIM:612953 |
OMIM ClinVar MouseDO |
PMID:2668131 PMID:16783378 PMID:18359254 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:25326635 PMID:25660576 PMID:25741868 PMID:26001724 PMID:26196026 PMID:26467025 PMID:26633545 PMID:26668131 PMID:26755131 PMID:27127721 PMID:27268037 PMID:27378808 PMID:27942883 PMID:28295203 PMID:28492532 PMID:28542792 PMID:28716262 PMID:29395073 PMID:29472584 PMID:29859652 PMID:29913018 PMID:30065071 PMID:30232368 PMID:30302010 PMID:30340910 PMID:30619057 PMID:32183746 PMID:32581362 PMID:32707456 PMID:32771225 PMID:32860008 PMID:33279242 PMID:33619735 PMID:34168672 PMID:34272103 PMID:34520727 PMID:34622992 PMID:35113461 PMID:35861376 PMID:36499697 More...
|
|
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
|
|
G |
Slc39a14 |
solute carrier family 39 member 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36152728 |
|
NCBI chr15:45,376,806...45,423,549
Ensembl chr15:45,376,917...45,423,524
|
|
|
G |
Fbxo7 |
F-box protein 7 |
|
ISO |
ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 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:29174172 PMID:30502028 PMID:31965297 More...
|
|
NCBI chr 7:17,809,224...17,837,549
Ensembl chr 7:17,809,231...17,837,530
|
|
G |
Nf1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease 15 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
|
|
|
G |
Mylk3 |
myosin light chain kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease 17 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:21,685,085...21,743,587
Ensembl chr19:21,691,929...21,742,954
|
|
G |
Orc6 |
origin recognition complex, subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Parkinson disease 17 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662
|
|
G |
Vps35 |
VPS35 retromer complex component |
|
ISO ISS |
ClinVar Annotator: match by term: Parkinson disease 17 | ClinVar Annotator: match by term: VPS35-related condition OMIM:614203 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:17576681 PMID:18342564 PMID:21763482 PMID:21763483 PMID:22154191 PMID:22517097 PMID:22801713 PMID:22991136 PMID:23125461 PMID:23408866 PMID:23411763 PMID:23536430 PMID:24740878 PMID:25288323 PMID:25533483 PMID:25741868 PMID:26251041 PMID:26321632 PMID:27385586 PMID:27964832 PMID:28166811 PMID:28222538 PMID:28492532 PMID:28796472 PMID:28862745 PMID:32613234 PMID:37786555 More...
|
|
NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618
|
|
|
G |
Dnajc6 |
DnaJ heat shock protein family (Hsp40) member C6 |
|
ISO |
ClinVar Annotator: match by term: Juvenile onset Parkinson disease 19A | ClinVar Annotator: match by term: PARK19 | ClinVar Annotator: match by term: Parkinson disease 19B, early-onset |
OMIM ClinVar |
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...
|
|
NCBI chr 5:116,120,069...116,283,448
Ensembl chr 5:116,119,676...116,283,448
|
|
|
G |
Gatad2b |
GATA zinc finger domain containing 2B |
|
ISO |
ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542
|
|
G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Young-onset Parkinson disease |
ClinVar |
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:16333314 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:20413974 PMID:21115957 PMID:21280089 PMID:21753163 PMID:21850687 PMID:22539006 PMID:22575234 PMID:23075850 PMID:23472874 PMID:24033266 PMID:24148854 PMID:24243757 PMID:25330418 PMID:25741868 PMID:26062626 PMID:26251043 PMID:26467025 PMID:28465860 PMID:28492532 PMID:28639421 PMID:29309488 PMID:29386392 PMID:29402177 More...
|
|
NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
|
|
G |
Pacrg |
parkin coregulated |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Parkinson disease, juvenile, type 2 | ClinVar Annotator: match by term: Young-onset Parkinson disease |
ClinVar |
PMID:12116199 PMID:12707451 PMID:12730996 PMID:15606901 PMID:16328510 PMID:16643317 PMID:19162522 PMID:19636047 PMID:20399249 PMID:21348451 PMID:21694720 PMID:21993715 PMID:25741868 PMID:25833766 PMID:26467025 PMID:26683220 PMID:28492532 PMID:33045815 PMID:33150996 PMID:33166806 More...
|
|
NCBI chr 1:49,882,671...50,305,564
Ensembl chr 1:49,882,630...50,305,430
|
|
G |
Park7 |
Parkinsonism associated deglycase |
|
ISO |
ClinVar Annotator: match by term: Young-onset Parkinson disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
|
|
G |
Podxl |
podocalyxin-like |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 |
ClinVar |
PMID:26864383 |
|
NCBI chr 4:60,135,124...60,181,829
Ensembl chr 4:60,135,109...60,181,899
|
|
G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
|
ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Parkinson disease, juvenile, type 2 | ClinVar Annotator: match by term: Young-onset Parkinson disease OMIM:600116 |
OMIM ClinVar MouseDO |
PMID:7565830 PMID:9560156 PMID:9634531 PMID:9731209 PMID:9802278 PMID:9851438 PMID:10072423 PMID:10319889 PMID:10824074 PMID:10894217 PMID:10939576 PMID:10983716 PMID:11009195 PMID:11163284 PMID:11179010 PMID:11222808 PMID:11402119 PMID:11405814 PMID:11487568 PMID:11558785 PMID:11889248 PMID:11971093 PMID:12056932 PMID:12112109 PMID:12114481 PMID:12116199 PMID:12397156 PMID:12446971 PMID:12465088 PMID:12629236 PMID:12707451 PMID:12707457 PMID:12730996 PMID:12764050 PMID:12764051 PMID:12781588 PMID:12891670 PMID:12973932 PMID:12975291 PMID:14519684 PMID:14639672 PMID:15022188 PMID:15090472 PMID:15193026 PMID:15197707 PMID:15254940 PMID:15266615 PMID:15390068 PMID:15606901 PMID:15642853 PMID:15729528 PMID:15816865 PMID:15823482 PMID:15970950 PMID:16049031 PMID:16086186 PMID:16130111 PMID:16227559 PMID:16269266 PMID:16328510 PMID:16339143 PMID:16367892 PMID:16476817 PMID:16500134 PMID:16606767 PMID:16643317 PMID:16714300 PMID:16769863 PMID:16793319 PMID:17095157 PMID:17187375 PMID:17415800 PMID:17766365 PMID:17914726 PMID:18211709 PMID:18413468 PMID:18485927 PMID:18486522 PMID:18514563 PMID:18519021 PMID:18554280 PMID:18685134 PMID:18785233 PMID:18927607 PMID:18951541 PMID:18973255 PMID:19006224 PMID:19087301 PMID:19162522 PMID:19205068 PMID:19339245 PMID:19351622 PMID:19405094 PMID:19636047 PMID:19715670 PMID:19801972 PMID:19891003 PMID:19922375 PMID:19946270 PMID:20301651 PMID:20399249 PMID:20404107 PMID:20457763 PMID:20558392 PMID:20604804 PMID:20643691 PMID:20798600 PMID:21215313 PMID:21322020 PMID:21348451 PMID:21534944 PMID:21625934 PMID:21681106 PMID:21694720 PMID:21993715 PMID:21996382 PMID:22118943 PMID:22233331 PMID:22243833 PMID:22302706 PMID:22523156 PMID:22555654 PMID:22766139 PMID:22777964 PMID:22956510 PMID:22995991 PMID:23275044 PMID:23531835 PMID:23727886 PMID:23751051 PMID:23770917 PMID:23818421 PMID:23835509 PMID:23880019 PMID:23986421 PMID:24033266 PMID:24082139 PMID:24167364 PMID:24375549 PMID:24647965 PMID:24677602 PMID:24816432 PMID:24831986 PMID:25045378 PMID:25174650 PMID:25238391 PMID:25284222 PMID:25558820 PMID:25591737 PMID:25640679 PMID:25741868 PMID:25815004 PMID:25833766 PMID:25877876 PMID:25907632 PMID:25939424 PMID:26116755 PMID:26161729 PMID:26188007 PMID:26274610 PMID:26467025 PMID:26518746 PMID:26556299 PMID:26631732 PMID:26683220 PMID:26764160 PMID:26830385 PMID:26836416 PMID:26855076 PMID:27006626 PMID:27094865 PMID:27177722 PMID:27182553 PMID:27206984 PMID:27294386 PMID:27534820 PMID:27776828 PMID:28492532 PMID:28862745 PMID:29353703 PMID:29530980 PMID:29606608 PMID:29860783 PMID:29910155 PMID:29967542 PMID:30099245 PMID:30200940 PMID:30502028 PMID:30537300 PMID:30609409 PMID:30994895 PMID:31147223 PMID:31182772 PMID:31217084 PMID:31285534 PMID:31324919 PMID:31409571 PMID:31429726 PMID:31660654 PMID:31695088 PMID:31929871 PMID:32214227 PMID:32442813 PMID:32870915 PMID:32970363 PMID:33045815 PMID:33150996 PMID:33166806 PMID:33497488 PMID:33845304 PMID:34426522 PMID:34434164 PMID:35640906 PMID:35747619 PMID:35954270 PMID:37054910 PMID:37750340 PMID:38175148 PMID:38378758 PMID:38767677 PMID:39117722 More...
|
|
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
|
|
G |
Vps13c |
vacuolar protein sorting 13 homolog C |
|
ISO |
ClinVar Annotator: match by term: Young-onset Parkinson disease |
ClinVar |
PMID:25741868 PMID:26942284 PMID:32623794 PMID:36029130 |
|
NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895
|
|
|
G |
Atp5po |
ATP synthase peripheral stalk subunit OSCP |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
|
|
G |
Cfap298 |
cilia and flagella associated protein 298 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
|
|
G |
Clic6 |
chloride intracellular channel 6 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061
|
|
G |
Cryzl1 |
crystallin zeta like 1 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,933,140...30,977,936
Ensembl chr11:30,933,144...30,977,867
|
|
G |
Dnajc28 |
DnaJ heat shock protein family (Hsp40) member C28 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,855,566...30,858,386
Ensembl chr11:30,853,526...30,858,441
|
|
G |
Donson |
DNA replication fork stabilization factor DONSON |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889
|
|
G |
Epcip |
exosomal polycystin 1 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,307,842...30,325,829
Ensembl chr11:30,310,350...30,325,439
|
|
G |
Eva1c |
eva-1 homolog C |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,089,510...30,163,596
Ensembl chr11:30,089,365...30,163,596
|
|
G |
Gart |
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
|
|
G |
Hunk |
hormonally upregulated Neu-associated kinase |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:29,641,122...29,758,392
Ensembl chr11:29,640,775...29,757,526
|
|
G |
Ifnar1 |
interferon alpha and beta receptor subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
|
|
G |
Ifnar2 |
interferon alpha and beta receptor subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124
|
|
G |
Ifngr2 |
interferon gamma receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005
|
|
G |
Il10rb |
interleukin 10 receptor subunit beta |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074
|
|
G |
Itsn1 |
intersectin 1 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645
|
|
G |
Kcne1 |
potassium voltage-gated channel subfamily E regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
|
|
G |
Kcne2 |
potassium voltage-gated channel subfamily E regulatory subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
|
|
G |
Mis18a |
MIS18 kinetochore protein A |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:29,968,030...29,981,058
Ensembl chr11:29,967,701...29,981,062
|
|
G |
Mrap |
melanocortin 2 receptor accessory protein |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024
|
|
G |
Mrps6 |
mitochondrial ribosomal protein S6 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484
|
|
G |
Olig1 |
oligodendrocyte transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521
|
|
G |
Olig2 |
oligodendrocyte transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152
|
|
G |
Paxbp1 |
PAX3 and PAX7 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648
|
|
G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:18414213 PMID:21357833 PMID:21880868 PMID:25741868 PMID:26467025 PMID:28337550 PMID:28492532 PMID:28776642 PMID:32391929 PMID:34426522 PMID:36325100 More...
|
|
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
|
|
G |
Rcan1 |
regulator of calcineurin 1 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
|
|
G |
Runx1 |
RUNX family transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
|
|
G |
Scaf4 |
SR-related CTD-associated factor 4 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153
|
|
G |
Slc5a3 |
solute carrier family 5 member 3 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883
|
|
G |
Smim11 |
small integral membrane protein 11 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002
|
|
G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
|
|
G |
Son |
SON DNA and RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
|
|
G |
Spg11 |
SPG11 vesicle trafficking associated, spatacsin |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:19105190 PMID:20110243 PMID:22154821 PMID:23733235 PMID:25741868 PMID:26556829 PMID:28492532 PMID:31589614 PMID:33059505 More...
|
|
NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
|
|
G |
Synj1 |
synaptojanin 1 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
OMIM ClinVar |
PMID:9536098 PMID:11413010 PMID:16199547 PMID:17576681 PMID:23804563 PMID:23804577 PMID:24609975 PMID:24816432 PMID:25316601 PMID:25741868 PMID:26046367 PMID:26467025 PMID:27393345 PMID:27435091 PMID:27496670 PMID:27869329 PMID:28135719 PMID:28421333 PMID:28492532 PMID:29163333 PMID:31440721 PMID:32707456 PMID:35861376 More...
|
|
NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220
|
|
G |
Tiam1 |
TIAM Rac1 associated GEF 1 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901
|
|
G |
Tmem50b |
transmembrane protein 50B |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,804,835...30,837,675
Ensembl chr11:30,804,837...30,837,661
|
|
G |
Urb1 |
URB1 ribosome biogenesis homolog |
|
ISO |
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363
|
|
|
|