Parkinson disease

Disease Term Disease ID Gene Symbol Classification References Source
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT C4225238 CHCHD2 Causal Pathogenic evidence from ClinVar 25662902, 26067110 ClinVar
PARKINSON DISEASE 19A, JUVENILE-ONSET C3809811 DNAJC6 Causal Pathogenic evidence from ClinVar 22563501, 23211418, 26528954, 26703368 ClinVar
PARKINSON DISEASE 19B, EARLY-ONSET C4310802 DNAJC6 Causal Pathogenic evidence from ClinVar 22563501, 23211418, 26703368 ClinVar
Parkinsonian Disorders C0242422 DNAJC6 Causal Pathogenic evidence from ClinVar - ClinVar
LRRK2 Causal Pathogenic evidence from ClinVar 23046578, 25017139, 26558463 ClinVar
MAPT Causal Pathogenic evidence from ClinVar 10802785, 19458322 ClinVar
PARK7 Causal Pathogenic evidence from ClinVar 23046578, 26558463 ClinVar
PINK1 Causal Pathogenic evidence from ClinVar 11254447, 15349871, 23046578, 24441527, 24792327, 26558463 ClinVar
PLA2G6 Causal Pathogenic evidence from ClinVar - ClinVar
PRKN Causal Pathogenic evidence from ClinVar 10072423, 10894217, 11254447, 12764051, 16914382, 23046578, 25640678, 26558463 ClinVar
PTRHD1 Causal Pathogenic evidence from ClinVar 29143421 ClinVar
RAB39B Causal Pathogenic evidence from ClinVar - ClinVar
Young-onset Parkinson disease 2828 DNAJC6 Causal Pathogenic evidence from ClinVar - ClinVar
LRRK2 Causal Pathogenic evidence from ClinVar - ClinVar
PARK7 Causal Pathogenic evidence from ClinVar - ClinVar
PINK1 Causal Pathogenic evidence from ClinVar - ClinVar
PODXL Causal Pathogenic evidence from ClinVar - ClinVar
PRKN Causal Pathogenic evidence from ClinVar - ClinVar
Autosomal Dominant Juvenile Parkinson Disease C0752097 LRRK2 Causal Pathogenic evidence from ClinVar 23046578, 25017139, 26558463 ClinVar
MAPT Causal Pathogenic evidence from ClinVar 10802785, 19458322 ClinVar
PARK7 Causal Pathogenic evidence from ClinVar 23046578, 26558463 ClinVar
PINK1 Causal Pathogenic evidence from ClinVar 11254447, 15349871, 23046578, 24441527, 24792327, 26558463 ClinVar
PRKN Causal Pathogenic evidence from ClinVar 10072423, 10894217, 11254447, 12764051, 16914382, 23046578, 25640678, 26558463 ClinVar
SNCA Causal Pathogenic evidence from ClinVar 20464527, 22319455, 23046578, 23295396, 26075822, 26558463, 26687234, 27026137, 27324791 ClinVar
Parkinson Disease C0030567 LRRK2 Causal Pathogenic evidence from ClinVar 17388990, 19915575, 19915576, 20205471, 21292315, 21738487, 22043175, 22438815, 22451204, 23017109, 23472874, 23628791, 24842889, 25064009, 25149416, 25475535, 25631236, 27182965, 28892059 ClinVar
MAPT Causal Pathogenic evidence from ClinVar 19915575, 20711177, 21044948, 21738487, 22438815, 24842889, 25064009, 28892059 ClinVar
PARK7 Causal Pathogenic evidence from ClinVar 15784737, 17010972, 20423725, 20800516, 22043175, 22898350, 23037695, 23792957, 25149416 ClinVar
PINK1 Causal Pathogenic evidence from ClinVar 17010972, 21366594, 22043175, 24374061, 25149416 ClinVar
PRKN Causal Pathogenic evidence from ClinVar 12588799, 15198987, 15882845, 16573651, 17010972, 19946270, 22043175, 22841634, 23628791, 24582596, 25149416, 25631236, 28284907 ClinVar
SNCA Causal Pathogenic evidence from ClinVar 11535288, 12151787, 12732244, 12885775, 14535945, 15099020, 17131421, 17690948, 18322262, 18353766, 18841091, 19915575, 19915576, 20070850, 20664293, 20711177, 21044948, 21084426, 21245015, 21292315, 21738487, 21892157, 22043175, 22110584, 22166454, 22185909, 22355530, 22438815, 22451204, 24509835, 24511991, 24833599, 25064009, 25106480, 25149416, 25475535, 25631236, 27182965, 28011712, 28892059, 30957308 ClinVar
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE C1868675 LRRK2 Causal Pathogenic evidence from ClinVar 23046578, 25017139, 26558463 ClinVar
MAPT Causal Pathogenic evidence from ClinVar 10802785, 19458322 ClinVar
PARK7 Causal Pathogenic evidence from ClinVar 23046578, 26558463 ClinVar
PINK1 Causal Pathogenic evidence from ClinVar 11254447, 15349871, 23046578, 24441527, 24792327, 26558463 ClinVar
PODXL Causal Pathogenic evidence from ClinVar 26864383 ClinVar
PRKN Causal Pathogenic evidence from ClinVar 9560156, 9731209, 10072423, 10824074, 10888878, 10894217, 10939576, 11163284, 11179010, 11254447, 11431533, 11487568, 11558785, 11590439, 11971093, 12056932, 12112109, 12114481, 12116199, 12362318, 12397156, 12629236, 12730996, 12764050, 12764051, 12891670, 12925569, 14519684, 15090472, 15390068, 15584030, 15606901, 15970950, 16049031, 16227559, 16339143, 16476817, 16643317, 16769863, 16914382, 17095157, 17360614, 17766365, 18211709, 18486522, 18519021, 18973255, 19205068, 19229105, 19636047, 19801972, 20404107, 20558392, 20604804, 20798600, 20889486, 20889974, 21348451, 21376232, 21694720, 21996382, 22777964, 22956510, 23046578, 23275044, 23751051, 23770917, 23818421, 24167364, 24647965, 24831986, 25640678, 25815004, 25877876, 25907632, 25939424, 26188007, 26274610, 26558463, 26631732, 26683220, 27206984, 27534820 ClinVar
SNCA Causal Pathogenic evidence from ClinVar 20464527, 22319455, 23046578, 23295396, 26075822, 26558463, 26687234, 27026137, 27324791 ClinVar
PARKINSON DISEASE 8 (disorder) C1846862 LRRK2 Causal Pathogenic evidence from ClinVar 15541308, 15541309, 15680455, 15680456, 15680457, 15726496, 15732108, 15811454, 15852371, 15880653, 15925109, 15929036, 16102999, 16157901, 16157908, 16157909, 16172858, 16240353, 16247070, 16250030, 16251215, 16269541, 16272164, 16272257, 16298482, 16321986, 16333314, 16533964, 16750377, 17114044, 18213618, 18986508, 21494637, 21538529, 21658387, 21850687, 22575234, 22956510, 23241745, 23395371, 24565865, 25201882, 26251043, 26824392, 27111571, 28202711, 28395802, 28395804, 28720718, 29125462, 29127255, 29212815, 30398148, 30635421 ClinVar
PARKINSON DISEASE, LATE-ONSET C3160718 LRRK2 Causal Pathogenic evidence from ClinVar 27111571 ClinVar
MAPT Causal Pathogenic evidence from ClinVar - ClinVar
PRKN Causal Pathogenic evidence from ClinVar 12629236, 12730996, 19966284, 29311685 ClinVar
Parkinson Disease 6, Autosomal Recessive Early-Onset C1853833 PARK7 Causal Pathogenic evidence from ClinVar - ClinVar
PINK1 Causal Pathogenic evidence from ClinVar 15087508, 15349860, 15349870, 15505171, 15596610, 15824318, 15955953, 15970950, 16009891, 16207217, 16207731, 16257123, 16401616, 16482571, 16632486, 16966503, 17030667, 17055324, 17579517, 17960343, 18286320, 18359116, 18524835, 18785233, 19229105, 20558144, 20798600, 21421046, 21996382, 22043288, 22956510, 23303188, 24475098, 24652937, 24784582, 27003823 ClinVar
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET C1853445 PARK7 Causal Pathogenic evidence from ClinVar 12446870, 12851414, 12953260, 14607841, 14713311, 15254937, 15365989, 17846173, 19229105, 22523093, 23792957, 23847046, 28348719 ClinVar
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE C2751842 PLA2G6 Causal Pathogenic evidence from ClinVar 16783378, 18570303, 18799783, 20886109, 26633545, 29903433 ClinVar
Parkinson Disease, Secondary Vascular C0751414 PRKN Causal Pathogenic evidence from ClinVar 15993444 ClinVar
Secondary Parkinson Disease C0030569 PRKN Causal Pathogenic evidence from ClinVar 15993444 ClinVar
Young onset Parkinson disease C4275179 PRKN Causal Pathogenic evidence from ClinVar 10072423, 12891670, 14519684, 15390068, 16049031, 19162522, 19636047, 19801972, 22555654, 23531835, 25591737, 25815004, 25907632, 25939424, 26836416, 26855076, 27182553, 27294386 ClinVar
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) C1868595 SNCA Causal Pathogenic evidence from ClinVar 9197268, 9462735, 14755719, 23427326, 23457019, 24936070, 25561023 ClinVar
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder) C1850100 SNCA Causal Pathogenic evidence from ClinVar 23526723 ClinVar