| Parkinsonian Disorders |
C0242422 |
A2M
|
|
|
ADH1C
|
|
|
PARP1
|
17640816 |
|
ALDH1A1
|
25045800 |
|
APOE
|
|
|
APP
|
|
|
ATP1A3
|
15260953 |
|
LYST
|
23436631, 11857544, 25519961 |
|
CLN3
|
|
|
CP
|
|
|
DCTN1
|
19136952 |
|
DDC
|
16269145 |
|
DRD2
|
15469457, 12476322, 9171869 |
|
EIF4G1
|
|
|
FMR1
|
|
|
FTL
|
|
|
FUS
|
|
|
GBA
|
25881142 |
|
GCH1
|
|
|
GDNF
|
9266731, 12213621 |
|
GLUD2
|
|
|
GNAO1
|
|
|
GRN
|
|
|
GSR
|
22721943 |
|
HFE
|
|
|
KIF5A
|
|
|
MAPT
|
19458322, 10802785 |
|
MECP2
|
|
|
MPO
|
|
|
ND6
|
|
|
NGF
|
19694610 |
|
NOS3
|
|
|
NR4A2
|
|
|
PRKN
|
25640678, 10072423, 10894217, 23046578, 16914382, 26558463, 12764051, 11254447 |
|
PDGFB
|
|
|
PDGFRB
|
|
|
PDYN
|
9930741 |
|
PLAU
|
|
|
PNOC
|
26687234 |
|
POLG
|
17923349 |
|
PPP2R2B
|
|
|
PRKAR1B
|
|
|
PRKCD
|
15681813 |
|
PRL
|
240179 |
|
PRNP
|
|
|
PSEN1
|
|
|
PSEN2
|
|
|
PTS
|
|
|
ATXN2
|
|
|
ATXN8OS
|
|
|
SLC6A3
|
|
|
SLC18A2
|
16269145 |
|
SLC20A2
|
|
|
SNCB
|
|
|
SNCA
|
23295396, 26558463, 26687234, 27324791, 27026137, 20464527, 22319455, 26075822, 23046578 |
|
SORL1
|
|
|
TBP
|
|
|
TH
|
11246459, 8817341 |
|
UBTF
|
|
|
VCP
|
|
|
PLA2G6
|
|
|
PRKRA
|
18243799 |
|
ALDH1A2
|
25045800 |
|
SYNJ1
|
|
|
SQSTM1
|
|
|
XPR1
|
|
|
SNCAIP
|
|
|
DNAJC6
|
|
|
AP5Z1
|
|
|
ATP6AP2
|
|
|
ABCA7
|
|
|
TOMM40
|
|
|
PDE10A
|
|
|
AFG3L2
|
|
|
WDR45
|
|
|
PARK7
|
26558463, 23046578 |
|
VPS13A
|
|
|
ATP13A2
|
23046578 |
|
TARDBP
|
|
|
SLC39A14
|
|
|
FBXO7
|
|
|
CHMP2B
|
|
|
COQ2
|
|
|
HTRA2
|
26558463 |
|
TBK1
|
|
|
TREM2
|
|
|
TMEM106B
|
|
|
TRPM7
|
|
|
VPS13C
|
|
|
SLC30A10
|
26220508 |
|
VPS35
|
|
|
JPH3
|
|
|
MYORG
|
|
|
TBC1D24
|
27541164 |
|
PINK1
|
11254447, 26558463, 15349871, 24441527, 24792327, 23046578 |
|
PANK2
|
|
|
DNAJC5
|
|
|
COASY
|
|
|
C19orf12
|
|
|
RAB39B
|
|
|
LRRK2
|
25017139, 23046578, 26558463 |
|
C9orf72
|
|
|
TMEM240
|
|
|
PTRHD1
|
29143421 |
|
CHCHD10
|
|
| PARKINSON DISEASE, MITOCHONDRIAL (disorder) |
C1838867 |
ADH1B
|
|
|
ADH1C
|
|
|
TRNK
|
|
|
TRNT
|
|
|
FMC1
|
29371327 |
| Autosomal Dominant Juvenile Parkinson Disease |
C0752097 |
PARP1
|
17640816 |
|
ALDH1A1
|
25045800 |
|
ATP1A3
|
15260953 |
|
DCTN1
|
19136952 |
|
DDC
|
16269145 |
|
DRD2
|
12476322, 15469457, 9171869 |
|
GBA
|
25881142 |
|
GDNF
|
9266731, 12213621 |
|
GSR
|
22721943 |
|
MAPT
|
19458322, 10802785 |
|
NGF
|
19694610 |
|
PRKN
|
12764051, 11254447, 10072423, 26558463, 23046578, 10894217, 25640678, 16914382 |
|
PDYN
|
9930741 |
|
PNOC
|
26687234 |
|
POLG
|
17923349 |
|
PRKCD
|
15681813 |
|
PRL
|
240179 |
|
SLC18A2
|
16269145 |
|
SNCA
|
26687234, 26558463, 27324791, 22319455, 26075822, 23046578, 20464527, 23295396, 27026137 |
|
TH
|
11246459, 8817341 |
|
PRKRA
|
18243799 |
|
ALDH1A2
|
25045800 |
|
PARK7
|
26558463, 23046578 |
|
ATP13A2
|
23046578 |
|
HTRA2
|
26558463 |
|
SLC30A10
|
26220508 |
|
PINK1
|
15349871, 24792327, 26558463, 11254447, 23046578, 24441527 |
|
LRRK2
|
23046578, 26558463, 25017139 |
| PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE |
C1868675 |
PARP1
|
17640816 |
|
ALDH1A1
|
25045800 |
|
ATP1A3
|
15260953 |
|
DCTN1
|
19136952 |
|
DDC
|
16269145 |
|
DRD2
|
15469457, 12476322, 9171869 |
|
GBA
|
25881142 |
|
GDNF
|
9266731, 12213621 |
|
GSR
|
22721943 |
|
MAPT
|
19458322, 10802785 |
|
NGF
|
19694610 |
|
PRKN
|
19205068, 17095157, 23751051, 19801972, 9560156, 12764051, 15090472, 12112109, 20798600, 25815004, 19229105, 10939576, 16914382, 21996382, 10072423, 26188007, 12114481, 12629236, 19636047, 11254447, 12764050, 20604804, 25939424, 22777964, 16049031, 12397156, 25640678, 11431533, 12116199, 15390068, 27534820, 11590439, 16476817, 20404107, 18486522, 25877876, 10894217, 18973255, 10888878, 27206984, 20558392, 15584030, 24167364, 10824074, 15970950, 26631732, 15606901, 24647965, 26274610, 16769863, 11558785, 11179010, 17766365, 17360614, 12925569, 22956510, 23046578, 18211709, 16643317, 23770917, 21694720, 16227559, 23818421, 20889486, 12056932, 23275044, 16339143, 20889974, 25907632, 26558463, 21376232, 21348451, 9731209, 18519021, 26683220, 11163284, 14519684, 24831986, 11487568, 12891670, 11971093, 12362318, 12730996 |
|
PDYN
|
9930741 |
|
PNOC
|
26687234 |
|
PODXL
|
26864383 |
|
POLG
|
17923349 |
|
PRKCD
|
15681813 |
|
PRL
|
240179 |
|
SLC18A2
|
16269145 |
|
SNCA
|
23046578, 22319455, 26687234, 26558463, 23295396, 27324791, 20464527, 27026137, 26075822 |
|
TH
|
11246459, 8817341 |
|
PRKRA
|
18243799 |
|
ALDH1A2
|
25045800 |
|
PARK7
|
23046578, 26558463 |
|
ATP13A2
|
23046578 |
|
HTRA2
|
26558463 |
|
SLC30A10
|
26220508 |
|
PINK1
|
11254447, 26558463, 15349871, 24441527, 23046578, 24792327 |
|
LRRK2
|
26558463, 25017139, 23046578 |
|
PACRG
|
|
| Parkinson Disease, Secondary Vascular |
C0751414 |
BCHE
|
30410011 |
|
CNR2
|
27317300 |
|
GDNF
|
19909981 |
|
NOS2
|
25634431 |
|
PRKN
|
15993444 |
|
ABCB1
|
26457621 |
|
PON1
|
26457621 |
|
RGS2
|
18347610 |
|
SHH
|
11771942 |
|
TFAM
|
28595911 |
|
ATP13A2
|
22285144 |
|
FMC1
|
29371327 |
| Young onset Parkinson disease |
C4275179 |
PRKN
|
25939424, 16049031, 26836416, 19801972, 27182553, 22555654, 25815004, 15390068, 14519684, 10072423, 12891670, 25591737, 25907632, 23531835, 19636047, 26855076, 19162522, 27294386 |
| PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder) |
C1850100 |
SNCA
|
23526723 |
|
FBXO7
|
19038853, 25029497, 25085748, 23933751, 18513678 |
| PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY (disorder) |
C1854182 |
SNCA
|
|
| PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) |
C1868595 |
SNCA
|
9197268, 14755719, 9462735, 23427326, 24936070, 23457019, 25561023 |
| PARKINSON DISEASE 5, AUTOSOMAL DOMINANT |
C3150899 |
UCHL1
|
12705903, 10048490, 9774100, 12408865 |
| PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE |
C2751842 |
PLA2G6
|
18799783, 29903433, 18570303, 20886109, 16783378, 26633545 |
| PARKINSON DISEASE 19B, EARLY-ONSET |
C4310802 |
DNAJC6
|
26703368, 22563501, 23211418 |
| PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET |
C1853445 |
PARK7
|
12953260, 17846173, 14607841, 12446870, 15254937, 15365989, 23792957, 12851414, 14713311, 22523093, 28348719, 19229105, 23847046 |
| PARKINSON DISEASE 8 (disorder) |
C1846862 |
LRRK2
|
15541308, 27111571, 15680456, 28720718, 23395371, 30635421, 16251215, 21850687, 26251043, 15925109, 15880653, 16333314, 15680457, 29212815, 15680455, 15852371, 21658387, 16240353, 22956510, 28202711, 16157908, 28395804, 16172858, 16269541, 15726496, 15732108, 15541309, 15811454, 16250030, 17114044, 16272164, 16272257, 23241745, 16533964, 16321986, 29125462, 16247070, 22575234, 16157909, 30398148, 16298482, 18986508, 18213618, 25201882, 16157901, 21538529, 29127255, 16102999, 28395802, 24565865, 26824392, 16750377, 21494637, 15929036 |
| Parkinson Disease |
C0030567 |
ADARB2
|
25475535 |
|
AIF1
|
19276553 |
|
APOE
|
30957308 |
|
BDNF
|
19276553 |
|
BST1
|
21292315, 28892059, 25064009, 22451204, 27182965, 19915576, 22438815 |
|
CA8
|
27182965 |
|
CDH8
|
21812969 |
|
CNTN1
|
24842889 |
|
COL5A2
|
26227905 |
|
COL13A1
|
23793441 |
|
COL19A1
|
25475535 |
|
CP
|
25758665, 19159062 |
|
CRHR1
|
24842889, 22438815, 21738487 |
|
CTSB
|
28892059 |
|
CYP2D6
|
14991823, 15174030 |
|
CYP2E1
|
16510128 |
|
CYP17A1
|
19915575 |
|
DGKQ
|
22451204, 21738487, 22438815 |
|
BRINP1
|
20070850 |
|
DDC
|
2969953, 11445284 |
|
NQO1
|
17188257 |
|
DLG2
|
28892059, 25064009, 28011712 |
|
DRD1
|
8558425 |
|
DRD2
|
8558425 |
|
EDN1
|
19276553 |
|
ENO2
|
30236862 |
|
FBP1
|
18353766 |
|
FCER2
|
25475535 |
|
FGB
|
23233872 |
|
GAK
|
20711177, 27182965, 18985386, 22438815, 21258085 |
|
GBA
|
25064009, 20947659, 27182965 |
|
GCH1
|
27182965, 25064009, 28892059 |
|
GDNF
|
16324109, 11031079 |
|
GFAP
|
19276553 |
|
GPX1
|
15824117 |
|
GSTA4
|
16510128 |
|
GSTM1
|
17449559 |
|
GSTP1
|
17190945, 23721876 |
|
HBG1
|
25475535 |
|
HFE
|
16824219 |
|
HGF
|
16791285 |
|
HLA-DRA
|
20711177, 24511991 |
|
HLA-DRB1
|
27182965 |
|
HLA-DRB5
|
27713094 |
|
HMOX1
|
21318773 |
|
HSPA1A
|
15585408 |
|
HSPA9
|
16565515 |
|
IGF1R
|
19276553 |
|
IGF2
|
19276553 |
|
IGF2R
|
19276553 |
|
IL6
|
21318773 |
|
INS
|
19276553 |
|
INSR
|
19276553 |
|
ITIH1
|
28892059 |
|
ITPKB
|
28892059 |
|
KCNJ4
|
18619942 |
|
LMNA
|
24842889 |
|
MAG
|
19276553 |
|
MAOA
|
17449559 |
|
MAOB
|
21318773 |
|
MAP2
|
30236862 |
|
MAPT
|
20711177, 22438815, 19915575, 21044948, 24842889, 28892059, 21738487, 25064009 |
|
MAP3K5
|
21815648 |
|
MTHFR
|
30726997 |
|
MX2
|
25663231 |
|
CEACAM6
|
25475535 |
|
NGF
|
19276553 |
|
NOS1
|
26383258 |
|
NSF
|
21738487, 19915575, 20711177, 21812969, 22438815 |
|
PAM
|
28892059 |
|
PRKN
|
15198987, 22841634, 15882845, 12588799, 23628791, 25631236, 22043175, 28284907, 19946270, 24582596, 16573651, 25149416, 17010972 |
|
ABCB1
|
20558393 |
|
NECTIN2
|
25475535 |
|
RIT2
|
27182965, 21738487, 25064009, 28892059, 22451204 |
|
RPL6
|
18353766 |
|
RPL23A
|
18353766 |
|
RPS8
|
18353766 |
|
RREB1
|
17052657 |
|
SCN2A
|
28892059 |
|
SH3GL2
|
22451204, 27182965, 28892059 |
|
SLC6A3
|
16963468, 16112329, 9763484, 19590691 |
|
SLC18A2
|
16112329 |
|
SNCA
|
21738487, 12732244, 24511991, 20711177, 22355530, 18841091, 17690948, 18322262, 25149416, 25064009, 21044948, 19915576, 21245015, 12885775, 21084426, 21292315, 14535945, 20664293, 22110584, 17131421, 25475535, 20070850, 21892157, 25106480, 28011712, 24833599, 22438815, 22166454, 22451204, 30957308, 19915575, 25631236, 28892059, 11535288, 22185909, 22043175, 12151787, 15099020, 18353766, 27182965, 24509835 |
|
SOD1
|
15824117, 16353238, 21318773 |
|
SOD2
|
17188257, 18353766, 25279756 |
|
SREBF1
|
21738487 |
|
TALDO1
|
23233872 |
|
TH
|
30236862 |
|
TNF
|
21318773 |
|
TPM1
|
27402877 |
|
TRPM2
|
27957685 |
|
WNT3
|
24511991, 21812969, 22451204, 21738487 |
|
ZNF165
|
28892059 |
|
ZP3
|
25663231 |
|
GPR65
|
28892059 |
|
ITGA8
|
28892059, 22438815 |
|
GBF1
|
28892059 |
|
HIP1R
|
22438815 |
|
RPL14
|
18353766 |
|
MTA1
|
27044752 |
|
MAP4K4
|
28892059 |
|
BAG5
|
28348719 |
|
TCL1B
|
25475535 |
|
ZNF646
|
22451204 |
|
TBC1D5
|
28892059 |
|
CTIF
|
17052657 |
|
PLEKHM1
|
22438815, 20070850, 21738487, 19915575 |
|
DNM1L
|
28215578 |
|
FRY
|
22438815 |
|
LHFPL2
|
27402877 |
|
TNK2
|
|
|
BCKDK
|
25064009, 28892059 |
|
GPNMB
|
25064009, 28892059 |
|
RAI1
|
21738487 |
|
PPARGC1A
|
30236862 |
|
PARK7
|
20423725, 25149416, 22898350, 17010972, 23037695, 22043175, 15784737, 20800516, 23792957 |
|
INPP5F
|
28892059, 25064009 |
|
MMRN1
|
22438815 |
|
ATP13A2
|
23628791, 21060012, 28137957, 25149416 |
|
CNTNAP2
|
25475535 |
|
LAMP3
|
21738487 |
|
STK39
|
22438815 |
|
TMEM230
|
27270108 |
|
CTNNA3
|
17052657 |
|
IP6K2
|
28892059 |
|
SYT17
|
27182965, 28892059 |
|
DCUN1D1
|
21738487 |
|
DDIT4
|
17005863 |
|
CNNM2
|
19915575 |
|
VPS13C
|
26942284 |
|
WBP1L
|
19915575 |
|
PLPPR1
|
30338293 |
|
NCAPG2
|
25475535 |
|
PIP4P2
|
17052657 |
|
SLC30A10
|
25149416 |
|
VPS35
|
25149416 |
|
BIN3
|
28892059 |
|
SLC50A1
|
22451204 |
|
MCCC1
|
21738487, 22438815, 21292315, 28011712, 22451204, 28892059, 25064009 |
|
SIPA1L2
|
28892059, 25064009 |
|
DNAJC1
|
17052657 |
|
NUCKS1
|
22438815, 19915575 |
|
PINK1
|
21366594, 22043175, 17010972, 24374061, 25149416 |
|
CCDC82
|
23793441 |
|
RABEP2
|
24842889 |
|
KCNIP4
|
25663231 |
|
CAB39L
|
28892059 |
|
TMEM175
|
25064009, 21738487, 21292315, 22438815, 30957308, 28892059 |
|
CCDC62
|
22451204, 28892059, 27182965, 21292315, 25064009 |
|
SLC45A3
|
22438815 |
|
NDUFAF2
|
27182965, 28892059 |
|
ADAMTSL1
|
17052657 |
|
TPTE2
|
21812969 |
|
SLC2A13
|
19915576, 22451204, 22438815, 28011712, 24842889 |
|
AGAP1
|
28892059 |
|
BORCS7
|
19915575 |
|
LRRK2
|
25631236, 28892059, 27182965, 21738487, 25149416, 21292315, 22438815, 19915576, 20205471, 23472874, 17388990, 25064009, 19915575, 22451204, 22043175, 24842889, 25475535, 23017109, 23628791 |
|
KLHDC1
|
27402877 |
|
TCEANC2
|
25663231 |
|
SLC2A14
|
25475535 |
|
LINC02210
|
22438815, 19915575, 21292315, 21738487, 22451204, 21044948, 24842889, 27182965 |
|
PM20D1
|
22438815, 19915575 |
|
CNKSR3
|
22451204 |
|
TMEM229B
|
25064009, 28892059 |
|
MDGA2
|
26227905 |
|
SPPL2C
|
22438815, 21738487, 19915575, 24842889 |
|
SPTSSB
|
28892059 |
|
STH
|
22438815 |
|
SLC41A1
|
21738487, 22438815 |
|
KANSL1
|
24842889, 21738487, 19915575, 22438815 |
|
RPA2P1
|
26227905 |
|
PRSS53
|
22451204 |
|
TMC3
|
23793441 |
|
TMPRSS9
|
25064009, 28892059 |
|
TPTE2P6
|
17052657 |
|
DRAXIN
|
25475535 |
|
LINC01121
|
20711177 |
|
MIR181C
|
28770951 |
|
UNC13C
|
17052657 |
|
TYW1B
|
17052657 |
|
DPY19L2P3
|
17052657 |
|
CASC16
|
28892059 |
|
SNCA-AS1
|
22438815 |
|
MAPT-AS1
|
21738487, 22438815, 24842889, 19915575 |
|
ZSCAN16-AS1
|
28892059 |
|
FAM47E
|
21738487, 27182965, 28892059, 19915575, 25064009 |
|
CCNT2-AS1
|
25064009, 21292315, 22451204, 28892059 |
|
MAPT-IT1
|
21738487 |
|
PARK16
|
19915576, 19915575 |
|
BORCS7-ASMT
|
19915575 |
|
FAM47E-STBD1
|
28892059, 27182965, 19915575, 21738487, 25064009 |
|
DSCAS
|
21812969 |
|
TMC3-AS1
|
23793441 |
|
LINC02224
|
26227905 |
|
LINC02210-CRHR1
|
21738487, 21044948, 27182965, 19915575, 22438815, 22451204, 24842889, 21292315 |
|
LINC02471
|
22438815, 24842889 |
|
LINC02451
|
27182965 |
|
LRRK2-DT
|
24842889, 22438815, 25064009, 28892059 |
| PARKINSON DISEASE, LATE-ONSET |
C3160718 |
ADH1C
|
|
|
GBA
|
27717005, 29400127, 27779773 |
|
GLUD2
|
|
|
MAPT
|
|
|
ATXN3
|
|
|
NR4A2
|
|
|
PRKN
|
19966284, 12629236, 29311685, 12730996 |
|
ATXN2
|
|
|
ATXN8OS
|
|
|
TBP
|
|
|
SNCAIP
|
|
|
DNAJC13
|
25393719, 24218364 |
|
TMEM230
|
27270108 |
|
LRRK2
|
27111571 |
| PARKINSON DISEASE 18 |
C3280271 |
EIF4G1
|
26740508, 25368108, 21907011 |
| PARKINSON DISEASE 20, EARLY-ONSET |
C3809824 |
SYNJ1
|
23804563, 27435091, 27869329, 23804577, 25316601, 27496670 |
| PARKINSON DISEASE 19A, JUVENILE-ONSET |
C3809811 |
DNAJC6
|
26528954, 23211418, 26703368, 22563501 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
C1853833 |
PARK7
|
|
|
PINK1
|
15349870, 16401616, 18524835, 17579517, 16632486, 17960343, 16009891, 22043288, 22956510, 23303188, 16207217, 27003823, 17030667, 18785233, 15824318, 24652937, 21996382, 15349860, 20558144, 20798600, 15087508, 21421046, 16482571, 15970950, 19229105, 15505171, 16966503, 15596610, 16207731, 17055324, 24475098, 16257123, 15955953, 18286320, 24784582, 18359116 |
| PARKINSON DISEASE 22, AUTOSOMAL DOMINANT |
C4225238 |
CHCHD2
|
25662902, 26067110 |
| PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET |
C4225186 |
VPS13C
|
28862745, 26942284 |
| PARKINSON DISEASE 17 |
C3280133 |
VPS35
|
21763482, 24819384, 24854799, 23395371, 21763483, 22517097, 23408866, 24980502 |
| Young-onset Parkinson disease |
2828 |
SYNJ1
|
|
|
SNCA
|
|
|
PINK1
|
|
|
UCHL1
|
|
|
HTRA2
|
|
|
PODXL
|
|
|
LRRK2
|
|
|
PRKN
|
|
|
PARK7
|
|
|
VPS13C
|
|
|
DNAJC6
|
|
| NON RARE IN EUROPE: Parkinson disease |
319705 |
GBA
|
|
| Secondary Parkinson Disease |
C0030569 |
BCHE
|
30410011 |
|
CNR2
|
27317300 |
|
GDNF
|
19909981 |
|
NOS2
|
25634431 |
|
PRKN
|
15993444 |
|
ABCB1
|
26457621 |
|
PON1
|
26457621 |
|
RGS2
|
18347610 |
|
SHH
|
11771942 |
|
TFAM
|
28595911 |
|
ATP13A2
|
22285144 |
|
FMC1
|
29371327 |
