Disease Term Disease ID Gene Symbol Classification References Source
Movement Disorders C0026650 KDM5C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15586325, 16541399, 17320160, 17468742, 18203167, 18697827, 19826449, 23999528, 24583395, 25666439, 26919706, 27421841 -
KIF1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21376300, 21487076, 21820098, 22258533, 25265257, 25585697, 26125038, 26354034, 26410750, 26486474, 27034427, 28332297, 28362824, 28708278, 28835676 -
KMT2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2738900, 7583381, 7802037, 8361504, 8634439, 12453418, 20541448, 20711175, 22077973, 22197486, 22795537, 23457195, 24886118, 25186178, 25574841, 25724810, 25810209, 25929198, 26795593, 27759909, 27777327, 28359930 -
KMT2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10409430, 16540515, 19344873, 21892160, 23426673, 25405613, 27320412, 27839873, 27992417 -
KMT2D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3067577, 9285441, 12482968, 14608645, 14699623, 16603732, 20711175, 21280141, 21658225, 21671394, 22126750, 22304445, 23320472, 25972376, 26049589, 26194542, 26898171, 27568880, 27573763, 27778401, 27991736, 28256057, 28295206, 28884889, 28884922 -
LAMA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2591971, 6795355, 9151674, 10607917, 15102706, 19553699, 19854944, 20048158, 21937992, 23161681, 23263632, 24013853, 25105227, 27095636 -
LETM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LRRK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15541309, 16102999, 16157901, 17200152, 18213618, 24243757, 25330418, 28103901 -
LYST Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MAN2B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7307317, 9758606, 12816222, 18651971, 22161967, 26048034 -
MCCC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MCCC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MECP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8177735, 10508514, 11035019, 11058114, 11227330, 12615169, 15057977, 15558314, 16169931, 16832102, 17236109, 17267601, 17351020, 18337588, 21154482, 23421866, 24399845, 24458799, 27354166 -
MED13L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 5167861, 14638541, 23403903, 24267886, 24781760, 24896178, 25137640, 25167861, 25356899, 25712080, 25758992, 27899622, 28371282, 28588821, 28645799, 29159987 -
MEF2C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17959722, 18579729, 19471318, 19592390, 20513142, 22495311, 22498567, 22670137, 23389741, 27255693 -
MICU1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24336167 -
MMACHC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16311595, 16714133, 19370762, 21748409, 25398587, 26283149, 26658511 -
MPZ Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9595994, 10071056, 10406984, 10553995, 10764043, 11080237, 11835375, 14638973, 15004559, 17663472, 19293842, 21840889, 23290023, 26310628 -
MRPS22 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17873122, 21189481, 25663021, 27159321, 28752220 -
MYO5A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ND5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NDUFAF6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18614015, 26741492, 27466185 -
NELFA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NFIA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10518556, 17530927, 19058033, 19763616, 20673863, 22301465, 22542183, 24098143, 24267886, 24462883, 24657733, 27081522 -
NGLY1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11562482, 12711318, 17088551, 22581936, 24651605, 27388694 -
NKX2-1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7635972, 11854319, 12891678, 15289765, 19336474, 21292530, 22832740, 23911641, 24714694, 24930029, 26196025, 28677170 -
NPC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9425535, 10521297, 12974729, 15459971, 19744920, 20525256, 22572546 -
NRG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22226049 -
NSD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NTNG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NUBPL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10214753, 12805096, 15576045, 18497740, 19336460, 19752196, 20818383, 21766414, 22072591, 22499348, 22826544, 22972949, 23553477, 23828044 -
OFD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10892847, 15466260, 16311594, 16783569, 18546297, 19396822, 19800048, 19876934, 22353940, 22619378, 23033313, 24884629, 25238977, 27081566 -
OGDH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
OPA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12566046, 14644237, 14961560, 16158427, 20157015, 22857269, 23384603, 23387428, 26385429, 26561570, 27150940, 27656661, 28841713 -
OPRM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20298714 -
PAX6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PDE6A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26321862, 26496393 -
PDHA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7887408, 10679936, 15384102, 21914562, 23021068, 25526709, 26008863, 26944031, 27144126, 27896109 -
PDYN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20298714 -
PGAP3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17314402, 22265715, 24439110, 26077850, 28390064 -
PIGN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10574991, 18635593, 21493957, 24253414, 24852103, 25920937, 26364997, 26394714, 26419326, 26879448, 27038415 -
PLPBP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PMM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9140401, 10527672, 10602363, 10854097, 11343337, 15844218, 24498599, 26014514, 26488408, 26805780, 28373276, 28425223 -
PMPCA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9700204, 11020385, 22495024, 25808372, 26657514, 27148589 -
PNKP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7165045, 10446192, 20118933, 23224214, 24965255, 25728773, 27165045, 27232581 -
POGZ Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9862965, 22495311, 22542183, 23375656, 24267886, 24463507, 24896178, 25533962, 25694107, 26739615, 26942287, 27148570, 28480548 -
POLR3H Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22405087, 25351951, 26992325, 28545339 -
PPT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PRNP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7699395, 7902972, 8250529, 9669700, 10408557, 10541874, 10963679, 11709001, 12420099, 12451207, 15824374, 15883322, 16391566, 16769939, 16831973, 20216075, 21911696, 23518043, 28778873, 28987186 -
PRRT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23126439 -