Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Amyotrophic lateral sclerosis |
Amyotrophic Lateral Sclerosis |
rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs371575563, rs1402429085, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087 View all (171 more) |
29566793 |
Cerebellar ataxia |
Progressive cerebellar ataxia |
rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887 |
|
External ophthalmoplegia |
External Ophthalmoplegia |
rs1569484022 |
|
Nystagmus |
Nystagmus, End-Position |
rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896 |
|
Parkinson disease |
PARKINSON DISEASE, LATE-ONSET |
rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 View all (84 more) |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Distal amyotrophy |
Distal amyotrophy |
|
|
ClinVar |
Mental depression |
Mental Depression, Depressive disorder |
|
21717286, 21437988, 8215926, 25139423, 19811945 |
ClinVar |
Peripheral axonal neuropathy |
Peripheral axonal neuropathy |
|
|
ClinVar |
Progressive external ophthalmoplegia |
Chronic progressive external ophthalmoplegia |
|
|
ClinVar |
Ptosis |
Blepharoptosis, Ptosis |
|
|
ClinVar |
Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
AA amyloidosis |
Associate
|
33477953 |
Adenylate Kinase Deficiency Hemolytic Anemia Due To |
Associate
|
10855623 |
Alzheimer Disease |
Inhibit
|
32745980 |
Amyotrophic Lateral Sclerosis |
Associate
|
33541344, 36737438 |
Aphasia Broca |
Associate
|
22023810 |
Apraxia oculomotor Cogan type |
Associate
|
30920184 |
Ataxia |
Associate
|
11804332, 18160752, 30920184, 33106888, 34087977, 37592453 |
Ataxia |
Stimulate
|
20069235 |
Autonomic Nervous System Diseases |
Associate
|
38233440 |
Brain Diseases |
Associate
|
36737438, 39456985 |
Brain Stem Neoplasms |
Associate
|
21372168 |
Carcinoma Renal Cell |
Associate
|
32496656 |
Cerebellar Diseases |
Associate
|
30430184 |
Cognition Disorders |
Associate
|
34087977, 40468428 |
Colorectal Neoplasms |
Associate
|
30942397 |
Diabetic Neuropathies |
Associate
|
14571010 |
Disease |
Associate
|
16040601 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
23382880, 27731380, 38423193 |
Dystonia |
Stimulate
|
29089256 |
Dystonia |
Associate
|
31565539 |
Dystonic Disorders |
Associate
|
31523939 |
Essential Tremor |
Associate
|
31317229, 36607423 |
Eye Neoplasms |
Associate
|
23857626 |
Friedreich Ataxia |
Associate
|
9429138 |
Gait Ataxia |
Associate
|
31565539 |
Genetic Diseases Inborn |
Associate
|
16040601, 23696636, 24981774, 30933216, 31374463, 32643791 |
Huntington Disease |
Associate
|
23887934 |
Immunoglobulin G4 Related Disease |
Associate
|
32745980 |
Learning Disabilities |
Associate
|
30430184 |
Leukemia Lymphocytic Chronic B Cell |
Associate
|
17116127 |
Leukemia Myeloid Acute |
Associate
|
28249600 |
Leukemia Prolymphocytic T Cell |
Associate
|
17116127 |
Lung Neoplasms |
Associate
|
24292675 |
Machado Joseph Disease |
Associate
|
11133357, 11572863, 11572942, 11708990, 12832059, 12938149, 12944474, 18839019, 19935829, 20334689, 20414249, 20865150, 21294677, 21780213, 21795378, 21909428, 22023810, 23382880, 23887934, 23935115, 25369462, 25448680, 25451224, 25590633, 25689313, 25914309, 26266536, 27328712, 27346190, 27346191, 27469193, 27731380, 27847820, 29444500, 29936336, 30455355, 31189928, 31374463, 31378764, 31491691, 31639609, 32205469, 32361312, 32643267, 32643791, 33065068, 33087504, 33106888, 33157084, 33371889, 33477953, 34087977, 34167352, 34535635, 34871736, 35421843, 35952620, 36971114, 37689718, 37866221, 38233440, 38423193, 39603094, 39921113, 39987589, 40152810, 40468428, 7825578, 8279460, 8558567, 8659514, 8900536, 9132496 View all (58 more) |
Machado Joseph Disease |
Stimulate
|
9106530, 9758625 |
Multiple System Atrophy |
Associate
|
29497168 |
Myoclonic Epilepsies Progressive |
Stimulate
|
9758625 |
Neoplasms |
Associate
|
24292675, 30942397 |
Neoplasms |
Stimulate
|
32496656 |
Nerve Degeneration |
Associate
|
27328712, 34535635 |
Neurodegenerative Diseases |
Associate
|
20865150, 27377427, 28939772, 30455355, 32643791 |
Olfaction Disorders |
Stimulate
|
29922950 |
Ophthalmoplegia |
Associate
|
14571010 |
Osteogenesis imperfecta type 3 |
Associate
|
32205289 |
Parkinson Disease |
Associate
|
22023810, 30788857 |
Parkinson Disease Secondary |
Associate
|
22023810 |
Signs and Symptoms |
Associate
|
18685131 |
Spinal Muscular Atrophies of Childhood |
Associate
|
35421843 |
Spinocerebellar Ataxias |
Stimulate
|
11804332, 29316893, 9758625 |
Spinocerebellar Ataxias |
Associate
|
11986402, 20334689, 23857626, 24972706, 29057148, 34565721, 39456985 |
Spinocerebellar Degenerations |
Stimulate
|
37848721 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
33613103 |
Stomach Neoplasms |
Associate
|
26330360 |
Thalassemia Beta+ Silent Allele |
Associate
|
30933216 |
Tongue Diseases |
Associate
|
31565539 |
Tooth Loss |
Associate
|
21372168 |
Tremor |
Associate
|
29057148 |
|