SNPMiner Trials by Shray Alag

NCT00511368 (37) NCT00460382 (36) NCT04504071 (35) NCT03783286 (33) NCT04172597 (32) NCT02404233 (29) NCT00959894 (28) NCT00706147 (28) NCT00121017 (28) NCT01685801 (27) NCT04513626 (26) NCT01736761 (26) NCT04495348 (24) NCT02673398 (23) NCT02499978 (22) NCT01605084 (21) NCT04254705 (21) NCT02069834 (21) NCT00939770 (18) NCT01792570 (18) NCT01199939 (18) NCT00356616 (18) NCT02728258 (17) NCT02707601 (17) NCT02770508 (16) NCT00711009 (16) NCT00630864 (16) NCT00491556 (15) NCT04085315 (15) NCT02616029 (15) NCT00830804 (15) NCT01170962 (14) NCT00984152 (14) NCT03953898 (14) NCT00727597 (14) NCT03212274 (14) NCT00337467 (13) NCT00098293 (13) NCT02159599 (13) NCT00424814 (12) NCT04432454 (12) NCT02527096 (12) NCT01849003 (12) NCT03781063 (12) NCT03683524 (11) NCT01614457 (11) NCT00460746 (11) NCT00993148 (11) NCT03061331 (11) NCT02494882 (11) NCT03068312 (11) NCT04453436 (11) NCT01521338 (10) NCT01614470 (10) NCT01423812 (10) NCT00358917 (10) NCT04415268 (10) NCT00511381 (10) NCT03911713 (9) NCT02742519 (9) NCT02725567 (9) NCT03045523 (9) NCT00438152 (9) NCT01102972 (9) NCT02971839 (9) NCT00740064 (9) NCT02605954 (9) NCT00379405 (9) NCT01562847 (9) NCT02616783 (9) NCT04272242 (9) NCT02445053 (9) NCT00242840 (9) NCT02724527 (9) NCT04209465 (9) NCT04585737 (8) NCT02082977 (8) NCT00112775 (8) NCT00383318 (8) NCT03659214 (8) NCT03631732 (8) NCT00118898 (8) NCT01888562 (8) NCT02633189 (8) NCT03565692 (8) NCT03843775 (8) NCT01161576 (8) NCT02167165 (8) NCT00344461 (8) NCT04519398 (7) NCT02154490 (7) NCT03232892 (7) NCT00650832 (7) NCT04549025 (7) NCT00440947 (7) NCT02784639 (7) NCT03572140 (6) NCT01237444 (6) NCT00532168 (6) NCT01102569 (6) NCT04424368 (6) NCT01414985 (6) NCT00525733 (6) NCT02308332 (6) NCT01487265 (6) NCT00049933 (5) NCT02389920 (5) NCT03351699 (5) NCT04197934 (5) NCT02272998 (5) NCT00122590 (5) NCT04204330 (5) NCT02450591 (5) NCT01173029 (5) NCT02675829 (5) NCT02858921 (5) NCT01914484 (5) NCT00187733 (5) NCT02554591 (5) NCT01501604 (5) NCT02716116 (5) NCT01136460 (5) NCT00187655 (5) NCT00350272 (5) NCT00837135 (5) NCT03202862 (5) NCT01707199 (5) NCT03839342 (5) NCT01323010 (4) NCT02248324 (4) NCT01698905 (4) NCT01737359 (4) NCT01306045 (4) NCT02804100 (4) NCT01456676 (4) NCT00588172 (4) NCT03434418 (4) NCT03593993 (4) NCT01804140 (4) NCT02882308 (4) NCT03497767 (4) NCT04106024 (4) NCT02716311 (4) NCT04405674 (4) NCT03599518 (4) NCT01675778 (4) NCT01604122 (4) NCT01297777 (4) NCT04519970 (4) NCT00705679 (4) NCT04147351 (4) NCT04129502 (4) NCT03976856 (4) NCT02335944 (4) NCT03948763 (4) NCT03255083 (4) NCT04002830 (4) NCT02635815 (4) NCT03066206 (4) NCT01331642 (4) NCT00557245 (4) NCT01922583 (4) NCT02893332 (4) NCT03592888 (4) NCT02257424 (4) NCT03874858 (4) NCT00017732 (4) NCT00187720 (4) NCT02593539 (4) NCT01185587 (4) NCT04439292 (4) NCT03884348 (4) NCT01309243 (4) NCT03209063 (4) NCT04160546 (4) NCT03292302 (4) NCT02418234 (4) NCT02535338 (3) NCT02192697 (3) NCT03410043 (3) NCT03845296 (3) NCT02914990 (3) NCT02113813 (3) NCT01532011 (3) NCT04340388 (3) NCT00962533 (3) NCT03856411 (3) NCT04049266 (3) NCT02973763 (3) NCT02926092 (3) NCT00271973 (3) NCT04256941 (3) NCT03812809 (3) NCT02954523 (3) NCT01784068 (3) NCT03446417 (3) NCT02841579 (3) NCT02025114 (3) NCT01288521 (3) NCT01385683 (3) NCT02279004 (3) NCT00998582 (3) NCT03111901 (3) NCT01352715 (3) NCT01619774 (3) NCT01045369 (3) NCT02246998 (3) NCT03969823 (3) NCT00895596 (3) NCT02398929 (3) NCT00724711 (3) NCT04029350 (3) NCT03737994 (3) NCT01443806 (3) NCT02629822 (3) NCT03463525 (3) NCT00710112 (3) NCT03623750 (3) NCT04283955 (3) NCT02743923 (3) NCT01016106 (3) NCT01259089 (3) NCT03971474 (3) NCT02917993 (3) NCT02368990 (3) NCT00279110 (3) NCT02485652 (3) NCT00312169 (3) NCT04541407 (3) NCT02769286 (3) NCT00747487 (3) NCT04267913 (3) NCT01429597 (3) NCT04023617 (3) NCT03790228 (3) NCT01759888 (3) NCT04429152 (3) NCT01810718 (3) NCT02725632 (3) NCT01090011 (3) NCT04544111 (3) NCT02926768 (3) NCT02981108 (3) NCT02459743 (3) NCT00654823 (3) NCT01037127 (3) NCT04439305 (3) NCT01028222 (3) NCT01542411 (3) NCT01031446 (3) NCT02726269 (3) NCT01892644 (3) NCT03260491 (3) NCT01802632 (3) NCT02720094 (3) NCT02630186 (3) NCT01627132 (3) NCT02690675 (3) NCT01013506 (3) NCT04252339 (3) NCT02496663 (3) NCT03386955 (3) NCT03394118 (3) NCT04212702 (3) NCT01754025 (3) NCT01160276 (3) NCT00121979 (3) NCT03228277 (3) NCT04351555 (3) NCT01243346 (3) NCT04510415 (3) NCT02796274 (3) NCT02774005 (3) NCT02064491 (3) NCT04233021 (3) NCT03799601 (3) NCT00260260 (3) NCT02094261 (3) NCT04245085 (3) NCT01282151 (3) NCT03058094 (3) NCT02520778 (3) NCT03161808 (3) NCT04181060 (3) NCT01342679 (3) NCT01443273 (3) NCT01593254 (3) NCT04433481 (3) NCT02529995 (3) NCT03502850 (3) NCT02771314 (3) NCT03823807 (3) NCT03270527 (3) NCT02688881 (3) NCT01005602 (3) NCT02442349 (3) NCT02282267 (2) NCT02684591 (2) NCT03381430 (2) NCT02178397 (2) NCT03608215 (2) NCT02603107 (2) NCT03370770 (2) NCT03322696 (2) NCT00525473 (2) NCT03333343 (2) NCT03127449 (2) NCT01781026 (2) NCT02503722 (2) NCT00975871 (2) NCT03964233 (2) NCT03388099 (2) NCT02317016 (2) NCT03845270 (2) NCT03519958 (2) NCT03918304 (2) NCT02151721 (2) NCT02777658 (2) NCT01016444 (2) NCT02971501 (2) NCT03101254 (2) NCT03178617 (2) NCT01774721 (2) NCT03574753 (2) NCT01357655 (2) NCT01766713 (2) NCT02097225 (2) NCT00658164 (2) NCT03622593 (2) NCT02571036 (2) NCT00834665 (2) NCT00969137 (2) NCT02026011 (2) NCT03622580 (2) NCT03543683 (2) NCT01143493 (2) NCT03671538 (2) NCT04028778 (2) NCT00324961 (2) NCT01915576 (2) NCT02157883 (2) NCT01387022 (2) NCT03864042 (2) NCT03235245 (2) NCT03469960 (2) NCT02795884 (2) NCT00005541 (2) NCT01242813 (2) NCT02906020 (2) NCT03960645 (2) NCT00643058 (2) NCT03443336 (2) NCT02992860 (2) NCT02281760 (2) NCT02201602 (2) NCT04310007 (2) NCT03720665 (2) NCT04309019 (2) NCT00909532 (2) NCT00411944 (2) NCT01604681 (2) NCT01245062 (2) NCT00270231 (2) NCT03256136 (2) NCT03973918 (2) NCT00302692 (2) NCT00125281 (2) NCT02163733 (2) NCT02110407 (2) NCT00475176 (2) NCT03196882 (2) NCT01572818 (2) NCT02556333 (2) NCT04268550 (2) NCT02433717 (2) NCT03428126 (2) NCT01153763 (2) NCT02609776 (2) NCT01420211 (2) NCT03556176 (2) NCT03872440 (2) NCT01405079 (2) NCT03382795 (2) NCT02991950 (2) NCT00013598 (2) NCT03455764 (2) NCT02422628 (2) NCT03831932 (2) NCT03766490 (2) NCT02580474 (2) NCT00499577 (2) NCT02444884 (2) NCT01775943 (2) NCT03544814 (2) NCT01310036 (2) NCT01027663 (2) NCT01928160 (2) NCT01244438 (2) NCT00007150 (2) NCT04462081 (2) NCT02297425 (2) NCT02086071 (2) NCT01050400 (2) NCT03060590 (2) NCT01819428 (2) NCT02709668 (2) NCT02411448 (2) NCT03878719 (2) NCT04479306 (2) NCT03377023 (2) NCT01378026 (2) NCT00226551 (2) NCT03239145 (2) NCT04511533 (2) NCT02191891 (2) NCT04586270 (2) NCT04545710 (2) NCT02120222 (2) NCT02738593 (2) NCT00831272 (2) NCT04469543 (2) NCT00573495 (2) NCT04158544 (2) NCT00904150 (2) NCT02110056 (2) NCT02856893 (2) NCT02110043 (2) NCT02182986 (2) NCT04179890 (2) NCT00063232 (2) NCT02197234 (2) NCT03121235 (2) NCT01532089 (2) NCT03887169 (2) NCT02268864 (2) NCT01963845 (2) NCT00866736 (2) NCT03977194 (2) NCT03991013 (2) NCT02500927 (2) NCT02228382 (2) NCT02689570 (2) NCT01513785 (2) NCT02463435 (2) NCT03351361 (2) NCT04527549 (2) NCT03424759 (2) NCT02197247 (2) NCT02321046 (2) NCT04272034 (2) NCT04027647 (2) NCT02364609 (2) NCT02759835 (2) NCT04349865 (2) NCT00068159 (2) NCT00418015 (2) NCT04310397 (2) NCT03088176 (2) NCT03867175 (2) NCT00339209 (2) NCT00011258 (2) NCT01288430 (2) NCT01616199 (2) NCT03603262 (2) NCT03071705 (2) NCT00969930 (2) NCT00772408 (2) NCT02743468 (2) NCT00277342 (2) NCT04248829 (2) NCT01767454 (2) NCT00933127 (2) NCT03317873 (2) NCT03392246 (2) NCT01909453 (2) NCT03523104 (2) NCT00085917 (2) NCT02507921 (2) NCT03781752 (2) NCT03828422 (2) NCT02193282 (2) NCT03195452 (2) NCT02294487 (2) NCT01325441 (2) NCT02511106 (2) NCT02997501 (2) NCT04184921 (2) NCT00625092 (2) NCT01657786 (2) NCT01415011 (2) NCT02629523 (2) NCT01718847 (2) NCT02818023 (2) NCT00577707 (2) NCT01943422 (2) NCT00116636 (2) NCT01841463 (2) NCT04429542 (2) NCT03865511 (2) NCT01218477 (2) NCT03205267 (2) NCT02881320 (2) NCT01897480 (2) NCT02810990 (2) NCT04189757 (2) NCT01951001 (2) NCT04254939 (2) NCT03207867 (2) NCT00780949 (2) NCT03355768 (2) NCT00817089 (2) NCT02143466 (2) NCT04499053 (2) NCT01907776 (2) NCT00909727 (2) NCT01562028 (2) NCT03737253 (2) NCT00441974 (2) NCT02155465 (2) NCT04586335 (2) NCT00661999 (2) NCT02705339 (2) NCT04006340 (2) NCT04553887 (2) NCT03852290 (2) NCT02183922 (2) NCT03970239 (2) NCT00294372 (2) NCT03250676 (2) NCT03792074 (2) NCT00671892 (2) NCT00689182 (2) NCT00106379 (2) NCT01947023 (2) NCT00509652 (2) NCT03683251 (2) NCT02039986 (2) NCT03515837 (2) NCT04081688 (2) NCT03190005 (2) NCT01584648 (2) NCT02292654 (2) NCT03992456 (2) NCT03133546 (2) NCT01485809 (2) NCT01266967 (2) NCT02909712 (2) NCT00062764 (2) NCT01776684 (2) NCT03042221 (2) NCT01940809 (2) NCT01161537 (2) NCT01154816 (2) NCT01175759 (2) NCT01199731 (2) NCT02788058 (2) NCT03130452 (2) NCT01772732 (2) NCT02631447 (2) NCT02525692 (2) NCT02526537 (2) NCT03513666 (2) NCT02027961 (2) NCT03106779 (2) NCT04106544 (2) NCT04258943 (2) NCT00165984 (2) NCT00977470 (2) NCT02092974 (2) NCT03975231 (2) NCT01998295 (2) NCT03586453 (2) NCT02021305 (2) NCT03135197 (2) NCT00432016 (2) NCT03004625 (2) NCT03851445 (2) NCT04031898 (2) NCT04201418 (2) NCT01911507 (2) NCT03539224 (2) NCT01978236 (2) NCT00866177 (2) NCT00320879 (2) NCT00044304 (2) NCT01999179 (2) NCT00977730 (2) NCT02491775 (2) NCT00212147 (2) NCT02040064 (2) NCT00489385 (2) NCT01713023 (2) NCT04122729 (2) NCT03994393 (2) NCT02438722 (2) NCT02762448 (2) NCT00071903 (2) NCT00626223 (2) NCT01193829 (2) NCT03239340 (2) NCT02991274 (2) NCT02811354 (2) NCT03416530 (2) NCT02522988 (2) NCT00953706 (2) NCT02346955 (2) NCT03795688 (2) NCT02011945 (2) NCT00857675 (2) NCT00028262 (2) NCT02355431 (2) NCT02495233 (2) NCT04575415 (2) NCT03468985 (2) NCT00230087 (2) NCT02017600 (2) NCT04146298 (2) 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NCT01647711 (1) NCT03231722 (1) NCT03576937 (1) NCT04412070 (1) NCT00554866 (1) NCT03151161 (1) NCT01817166 (1) NCT02220855 (1) NCT02512627 (1) NCT04591197 (1) NCT03402048 (1) NCT04500704 (1) NCT02323724 (1) NCT01166126 (1) NCT03029858 (1) NCT04317599 (1) NCT00300573 (1) NCT00809211 (1) NCT01393730 (1) NCT02318368 (1) NCT02228369 (1) NCT01074398 (1) NCT04500717 (1) NCT03134131 (1) NCT01004497 (1) NCT02455167 (1) NCT02073279 (1) NCT02117817 (1) NCT00323687 (1) NCT01605981 (1) NCT01371955 (1) NCT04147767 (1) NCT04144257 (1) NCT03490123 (1) NCT04423185 (1) NCT02625337 (1) NCT03567629 (1) NCT03360929 (1) NCT00109278 (1) NCT04108156 (1) NCT02132598 (1) NCT00542451 (1) NCT01587573 (1) NCT00868465 (1) NCT01494402 (1) NCT00867139 (1) NCT03363139 (1) NCT01936051 (1) NCT02341131 (1) NCT00037076 (1) NCT00582907 (1) NCT02169869 (1) NCT03284684 (1) NCT04204473 (1) NCT01074359 (1) NCT01400191 (1) NCT04530565 (1) NCT03530319 (1) NCT04146402 (1) NCT02658682 (1) NCT04241835 (1) NCT03133234 (1) 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SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT01888926

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Investigating the Plastic Effects of Repetitive Paired Associative Stimulation (rPAS) in Dystonia

Background: - People with dystonia have serious muscle contractions that cause abnormal movements or postures. This significantly affects their daily lives. The common type is called organic. The other type is psychogenic. People with this type have typical symptoms plus some psychological effects. Researchers will look at how rapid transcranial magnetic stimulation (rTMS) of the brain combined with stimulation of a nerve affects the ability to detect sensations. They will compare the responses of people with different types of dystonia. They will also compare the responses of people with dystonia to responses of people without it. This study may help us learn more about the nature of different types of dystonia. Objectives: - To see whether TMS combined with nerve stimulation affects the brain differently in people with different types of dystonia and those without dystonia. Eligibility: - Individuals at least 18 years old, who are right-handed and have dystonia. - Healthy volunteers at least 18 years old. Design: - Participants will have two clinical visits. Each visit will be a few hours long. They can be done on the same day. - Participants will be screened with a medical history and physical exam. - Participants will take several sensory tests. For these tests, electrodes will be placed on their skin. The participants will feel small electric shocks during some of the tests. - Participants will undergo TMS. For 2 minutes, quick electrical currents will pass through a wire coil placed on their head. As this happens, researchers will ask the participants to move certain muscles.

NCT01888926 Dystonia
MeSH:Dystonia Dystonic Disorders
HPO:Dystonia Focal dystonia Limb dystonia Paroxysmal dystonia Writer's cramp


Primary Outcomes

Measure: Change from baseline in the motor evoked potential (MEP) amplitude at S50 after 30 minutes from rPAS (T30).

Time: 30 minutes from rPAS

Time Perspective: Prospective


There is one SNP

SNPs


1 V66M

Outcome Measures Primary outcome variable: Change in MEP amplitudes at T30 from baseline Secondary outcome variables: - Input-output curve parameters (measured at baseline, T0, T30, and T60) - Temporal discrimination threshold (TDT) Exploratory Measures - Short interval intracortical inhibition (SICI), a measure of inhibition in the motor cortex - Influence of Val66Met BDNF polymorphism on the output variables Repeated measures analyses of variance (ANOVA) will be used to investigate the following three factors on the outcome variables: time (four levels: baseline, T0, T30 and T60) and muscle (two levels: APB and FDI) as within-subject factor and group (three levels: organic dystonia, psychogenic dystonia, and healthy controls) as between-subjects factor. --- Val66Met ---



HPO Nodes


HPO:
HP:0001332: Dystonia
Genes 686
LMAN2L ZIC2 TBC1D24 PRKRA RNASEH2A ND4 NDUFA10 VCP PSAP TBP SLC25A22 PIGP RNASEH2C TXN2 NODAL SPR PRRT2 UQCRQ DNAJC13 ECM1 LINS1 TRIT1 COX10 ND2 UBTF NUP62 FTL MECR GRIN1 SIX3 SYT1 STXBP1 COX15 CRADD GRIN2B SNCA PNKP SLC30A10 ADAR SLC2A1 MAPT MARS2 TMEM106B KAT6A NDUFS1 TAF1 VPS13D C19ORF12 ND1 SYT1 SYNJ1 ATP1A3 NPC1 CHN1 ATXN2 AP4E1 PNPT1 CRBN COL6A1 UPB1 MTO1 FBXL4 SYNE1 CDK10 PRKN DISP1 GAS1 ADH1C ACTB ACTA1 LRRK2 AUH FOXH1 NKX6-2 WARS2 DNAJC6 GDAP2 SLC44A1 TRNL1 MAN1B1 SETX COASY DLL1 TUBB4A SIX3 TUBB3 NUP62 GCDH SYNGAP1 PCDH12 C12ORF4 HPCA ATXN8 PLA2G6 IRF2BPL PINK1 FOXG1 PMPCB NDUFAF4 FOXH1 MECP2 WDR45 DEGS1 KCNA1 ZNF142 ATP6 EMC1 SLC2A1 CDON TAF1 ADAR GAS1 ARX BCS1L JAM2 ARSA SYNJ1 TIMM8A HIBCH CHMP2B SUCLA2 GRIA2 COL6A3 GM2A MBOAT7 UFM1 TWIST1 GNAO1 TSFM SPOP POLR1C NODAL NDUFAF5 COASY SHH SDHD DISP1 MECP2 ECHS1 SCN4A ND6 CP PANK2 NDUFV1 TSEN34 COL12A1 GLI2 SLC2A1 SCN2A MYORG SLC20A2 DISP1 ATP1A3 KDM5B COL6A1 TBC1D24 TGFB2 SLC6A8 PLP1 MPV17 SLC2A1 FGF8 AP4M1 KCNQ2 TDGF1 NDUFA13 LIPT1 GLI2 FGF8 STXBP1 CACNA1A GNAL YY1 TRAPPC12 MICU1 AP4B1 CYB5R3 MAT1A HIBCH HTT PDHA1 ATXN8OS SDHA IFIH1 NR4A2 SURF1 FGFR1 ATXN1 PSAP ND1 GFM2 COL4A1 SLC9A6 MAPT DMXL2 WDR73 VAMP1 GBA DNAJC6 DRD5 PNKD DALRD3 GABBR2 COX3 CYB5A C9ORF72 MAFB ATXN3 ACOX1 CASK GAMT NDUFA9 ATP1A3 CIZ1 FBXO7 NDUFS7 TTBK2 GNAS PANK2 CDON PLAA STAG2 SLC18A2 GNAL GNAS CP SIX3 SERAC1 UBQLN2 NGLY1 NSUN2 BCAP31 B3GALNT2 TOR1A EZR VPS37A TRNV GRIK2 QDPR DHDDS RNASEH2C SNORD118 ZIC2 UGDH TRAPPC11 DCPS TBC1D24 NDUFS7 SPR AARS2 RNASET2 ST3GAL3 MRE11 FGF8 POLR1D SLC25A42 SHH CACNA1G SURF1 CYTB SURF1 AP3D1 TH STAG2 FA2H PCGF2 TGM6 KCTD17 HTT NODAL PTCH1 TIMM8A ZIC2 ADAR WARS2 EIF2AK2 SCN8A CC2D1A MTFMT SLC2A3 GAS1 PGAP1 NDUFS3 CNTNAP1 TRAPPC9 KCNC3 PIK3R5 CACNA1A CEP85L ARX NDUFAF3 GJC2 RAB11B RNASEH2B MAPT HTRA2 FTL TECR NDUFA12 ALDH6A1 NDUFA9 PLA2G6 CDON PIGQ NKX2-1 UCHL1 NDUFA4 PARK7 PSEN1 SAMHD1 FBXO7 PTCH1 FRRS1L GFM2 STN1 GABBR2 MAPT DNAJC12 GSX2 GLI2 AUH CKAP2L SLC6A3 CASR NDUFV2 ATP1A3 SNCAIP SALL4 COQ2 ATP7B ADCY5 PARK7 SURF1 PTS COX15 CTC1 NDUFA2 EPRS1 PRRT2 ND6 ND3 SMC1A AFG3L2 AFG3L2 CACNA1B B4GALNT1 POLR3A GRIK2 TOR1A ARX TUBB4A GIGYF2 AIMP1 PSAP RHOBTB2 POLR3A VPS37A PCCA CYP27A1 TRPV4 ATP13A2 COL6A1 NDUFAF6 SDHA PINK1 MRPS34 PPP2R2B POLR3B DHX30 CACNA1A FA2H SLC2A1 GLUD2 B4GALNT1 HPRT1 COL6A3 CDKL5 SCO2 MED25 VAMP1 NDUFS1 NDST1 FBLN1 HINT1 PTS PANK2 GCH1 MCOLN1 AP4B1 PIGC OFD1 NDUFS2 TPI1 ADCY5 GCH1 SNCA ATP1A2 SYNJ1 CYP2U1 NDUFS8 MAPT FXN COL6A3 FBXO31 SNCA RSRC1 DLAT PRSS12 ADAR MMUT VPS13C ND4L GCDH GBA PDGFRB TTC19 SIX3 ARSA TUSC3 TDGF1 PLEKHG2 PRKCG SCN2A TBP TANGO2 COLEC11 GLB1 SLC6A3 PODXL ND5 ARX PRKN PRRT2 SLC39A8 SLC2A1 ATP13A2 MARS2 ACSF3 GLE1 DMXL2 HK1 PDGFB FLI1 CDON ATXN3 JPH3 MYF5 MED23 TRIM8 TTPA TSEN2 HPCA PNKP PDHA1 NPC2 PNPLA8 JPH3 SGCE HNMT KMT2B TGM6 ZIC2 DCAF17 GNAO1 PNKD GNAS LRRK2 SPATA5 GTPBP2 SLC6A8 VAMP2 ALDH18A1 ALS2 FOXH1 NDUFAF5 TAF1 COL6A2 ATP13A2 VPS13C FGFR3 SNCA VPS35 ECHS1 THAP1 NAXD NDUFS4 COQ9 EIF4G1 FGF8 WASHC4 DMXL2 SLC19A3 DNAJC19 PNPT1 PSAP FMN2 SQSTM1 TGIF1 NDUFAF6 ATP6 CHRNA2 SLC18A2 VAC14 NDUFB8 TOR1A SDHA NDUFS3 GRIN1 NEK9 CARS2 IFIH1 ND5 PTCH1 AARS1 FOXRED1 ATXN3 SLC19A3 HACE1 PDHX TDGF1 ATM YY1 CKAP2L SHH SLC30A10 CARS1 ND4 PRRT2 TREX1 SCP2 GM2A GLI2 ANO3 GBA SLC39A14 GAS1 NKX6-2 FOXG1 KCNA1 GNA11 SUOX PRRT2 ANO3 AP4S1 NADK2 NDUFS2 SLC19A3 RNASEH2A AFG3L2 PANK2 TGIF1 BSCL2 FITM2 KCTD17 AGTPBP1 NEUROD2 ATP1A3 COL6A3 CACNA1A PRKRA AFG3L2 SETX IQSEC1 NDUFS8 PTCH1 UBA5 MMADHC SLC45A1 DNAJC6 COL6A3 FOXH1 IREB2 THAP1 TAF1 PLA2G6 MICU1 PRRT2 BSCL2 COL6A2 SIK1 FA2H TCOF1 SDHAF1 RNASEH2B GABRB2 PODXL TGIF1 MDH2 CDKL5 VPS13A STARD7 DCAF17 ATN1 GCH1 VPS13A COL6A1 LIPT2 ARSA CLIP1 ATXN3 EARS2 TACO1 PET100 MAPT COL6A2 ATXN2 KCNQ2 COL12A1 TDGF1 KIF1C TNIK FARS2 ARV1 NDUFA12 TRNW DLL1 COL6A3 METTL23 CACNA1E SHH TGIF1 TBP SCN1B TREX1 ACER3 TRNK SLC30A9 TBCD HSPG2 WDR45 FGFR1 ATXN8OS STX16 ND2 FGFR2 HTT SARS1 APTX KCNMA1 EDC3 PCCB CWF19L1 NDUFAF2 DNM1L HACE1 LIPT1 NADK2 UBTF MMUT DRD2 TANGO2 NKX2-1 GRIN2B COQ8A NTNG1 TUBB4A PNKP NAA10 RARS1 NODAL MECP2 ACTB SGCE DDC ATP6 ARSA DLL1 COQ2 ATP13A2 ZC3H14 HPRT1 MRE11 C19ORF12 ZC4H2 DLD SLC39A14 TRAPPC12 NHLRC2 DLL1 TBC1D24 TH COL6A2 HTRA2 GNAO1 DISP1 TPK1
Protein Mutations 0
SNP 0