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) NCT04681820 (15) NCT01170962 (14) NCT00984152 (14) NCT03953898 (14) NCT00727597 (14) NCT03212274 (14) NCT01369199 (13) NCT00337467 (13) NCT00098293 (13) NCT01368497 (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) NCT02725567 (10) NCT01614470 (10) NCT01423812 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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) NCT04625647 (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) NCT03058094 (3) NCT01282151 (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) NCT02684591 (2) NCT02282267 (2) NCT03381430 (2) NCT02178397 (2) NCT03608215 (2) NCT02603107 (2) NCT03370770 (2) NCT03322696 (2) NCT03333343 (2) NCT00525473 (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) NCT00969137 (2) NCT00834665 (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) NCT04687241 (2) NCT00005541 (2) NCT01242813 (2) NCT03960645 (2) NCT00643058 (2) NCT03443336 (2) NCT02992860 (2) NCT02281760 (2) NCT02201602 (2) NCT04310007 (2) NCT04309019 (2) NCT03720665 (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) NCT04622072 (2) NCT04479306 (2) NCT03377023 (2) NCT01378026 (2) NCT03239145 (2) NCT04511533 (2) NCT00226551 (2) NCT02191891 (2) NCT04586270 (2) NCT04669535 (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) NCT03991013 (2) NCT02500927 (2) NCT04657991 (2) NCT02228382 (2) NCT02689570 (2) NCT01513785 (2) NCT02463435 (2) NCT03351361 (2) NCT04527549 (2) NCT03424759 (2) NCT02197247 (2) NCT02321046 (2) NCT04272034 (2) NCT04646824 (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) NCT04657289 (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) NCT04429542 (2) NCT01841463 (2) NCT03865511 (2) NCT03205267 (2) NCT01218477 (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) NCT04645225 (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) NCT04644315 (2) NCT02909712 (2) NCT00062764 (2) NCT01776684 (2) NCT03042221 (2) NCT01940809 (2) NCT04675008 (2) NCT01161537 (2) NCT01154816 (2) NCT01175759 (2) NCT01199731 (2) NCT02788058 (2) NCT03130452 (2) NCT04687423 (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) NCT03586453 (2) NCT01998295 (2) NCT02021305 (2) NCT03135197 (2) NCT00432016 (2) NCT04636437 (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) 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NCT03678506 (1) NCT02146365 (1) NCT04310943 (1) NCT02619955 (1) NCT02934139 (1) NCT00400387 (1) NCT00375219 (1) NCT00149305 (1) NCT03520946 (1) NCT02787447 (1) NCT04501614 (1) NCT03166631 (1) NCT04213313 (1) NCT02078531 (1) NCT02349048 (1) NCT02981784 (1) NCT04636593 (1) 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) NCT04500717 (1) NCT01074398 (1) NCT03134131 (1) NCT02455167 (1) NCT01004497 (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) 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SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT03206112

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

Loss of Depotentiation in Focal Dystonia

Background Focal dystonia is a brain disorder. It affects a muscle or muscles in a specific part of the body. Researchers think it may be related to excessive training or practice. They want to know more about how much training might trigger focal dystonia. Objectives: To study why people develop focal dystonia. To study how brain plasticity changes with focal dystonia. Eligibility: People at least 18 years of age with focal dystonia. Healthy volunteers the same age are also needed. Design: Participants will be screened with a physical exam and questions. They may have blood and urine tests. Participants will have up to 3 testing visits. Participants will have small electrodes stuck on the skin on the hands or arms. Muscle activity will be recorded. Participants will have transcranial magnetic stimulation (TMS). A wire coil will be placed onto the scalp. A brief electrical current will pass through the coil. The current will create a magnetic field that affects brain activity. Participants may be asked to tense certain muscles or do simple actions during TMS. A nerve at the wrist will get weak electrical stimulation. The stimulation may be paired with TMS for very short times. Participants will receive repeated magnetic pulses. Participants will receive a total of 150 pulses during a 10-second period. An entire testing visit will last about 3 hours. ...

NCT03206112 Focal Dystonia Healthy Volunteers
MeSH:Dystonia Dystonic Disorders
HPO:Dystonia Focal dystonia Limb dystonia Paroxysmal dystonia Writer's cramp

3 Interventions

Name: PAS25

Description: We will record surface electromyography from the target abductor pollicis brevis muscle and adjacent first dorsal interosseous and abductor digiti minimi muscles.
Type: Other
Group Labels: 2

Focal Dystonia Healthy Volunteers

Name: PAS10

Description: We will record surface electromyography from the target abductor pollicis brevis muscle and adjacent first dorsal interosseous and abductor digiti minimi muscles. TBS is a special form of
Type: Other
Group Labels: 2

Focal Dystonia Healthy Volunteers

Name: PAS25-cTBS150

Description: We will record surface electromyography from the target abductor pollicis brevis muscle and adjacent first dorsal interosseous and abductor digiti minimi muscles.
Type: Other
Group Labels: 2

Focal Dystonia Healthy Volunteers


Primary Outcomes

Description: compare MEP amplitude in patients with that in healthy volunteers to identify whether depotentiation is weaker in focal dystonia

Measure: MEP amplitude immediately after the PAS25-cTBS150 (depotentiation) protocol

Time: throughout

Secondary Outcomes

Description: MEP amplitudes at other time points after the PAS25-cTBS150 procedure

Measure: MEP amplitudes

Time: throughout

Time Perspective: Cross-Sectional

Case-Control


There is one SNP

SNPs


1 V66M

The Val66Met single nucleotide polymorphism is related to abnormal cortical plasticity. --- Val66Met ---



HPO Nodes


HPO:
HP:0001332: Dystonia
Genes 735
EZR TGIF1 ACSF3 PDHX WDR45 TRNK PET100 TIMM8A KCNA1 CLTC TREX1 HSPG2 NODAL TOR1A COX20 ACTB GRIA2 SLC2A1 NDUFAF4 VPS35 TRAPPC11 NSUN2 DHX30 WARS2 SLC20A2 NHLRC2 SHH TUBB4A PRKRA ARX COL6A2 NGLY1 ST3GAL3 HACE1 STARD7 ND1 NR4A2 MRPS34 CEP85L YY1 DCAF17 ARX ATP13A2 MYORG AARS2 AARS1 TUBB4A GNA11 DEGS1 ATP1A3 ARSA ATXN3 MAFB CACNA1G ATXN8OS AP4B1 PNPT1 AIMP1 PLP1 DNM1L HINT1 EPB41L1 SLC30A9 STN1 NKX2-1 PURA MPV17 LRRK2 PSAP FGF8 CYP27A1 GAS1 COL6A1 KCNQ5 GBA COX3 PODXL FOXH1 MICU1 SCN4A VPS13C TPK1 SDHA MRPS25 KCNQ2 CC2D1A SPATA5 BRSK2 PNKD ATP1A3 TBC1D24 GFM2 DLL1 GRIK2 SIX3 FOXG1 TIMM8A NUP62 GCH1 MBOAT7 TH ATN1 ND4L PSEN1 GSX2 FOXH1 SURF1 PRRT2 GRIN2B ND4 CKAP2L AP4M1 PDGFB PTS NDUFS8 COL12A1 SERAC1 CDON TAF1 CUX1 MDH2 ACER3 ADAR COL6A1 UBQLN2 PANK2 GAS1 MAPT DNAJC6 ADCY5 TUBB3 SPG11 GLB1 SLC2A1 HPDL COL6A2 TTC19 FRRS1L KDM5B PRRT2 PCCA FGFR2 POLR1D DALRD3 CYTB CDON SCN8A ARX IRF2BPL VAMP2 MTO1 SLC30A10 NDUFAF6 RARS1 SHH DISP1 ADAR DDC TRNV SQSTM1 NDUFAF6 SYNGAP1 SLC2A1 ZIC2 CYP2U1 SDHA ND5 ZMYND11 DISP1 MAN1B1 COL6A2 ATP1A3 EMC1 CTC1 GRIN2B PSAP SLC18A2 FA2H PNPT1 FOXH1 EEF1A2 AP4E1 KCNC3 CDH15 TDGF1 KDM5B ADH1C VPS13A CACNG2 SLC6A3 COX15 NDUFA12 PCDH12 TBC1D24 CWF19L1 GLI2 FGF8 CDKL5 ATXN1 THAP1 ATP13A2 AP4S1 SDHA NADK2 COASY ATXN8 FLI1 MMADHC TREX1 ECM1 ATXN2 SCO2 ATXN2 FGFR1 ARSA FTL DCAF17 ND5 IFIH1 KIF1A AP4B1 ATXN3 NDUFS7 TAF1 AFG3L2 PODXL RNASET2 COL12A1 GTPBP2 TAOK1 FBXO7 CYB5R3 GCDH AP3D1 PPP3CA ALS2 SALL4 WDR73 HTRA2 CDK10 PNKP DYNC1H1 CACNA1E AUH CAMK2A DISP1 PANK2 SPR STAG2 CHN1 COL6A3 QDPR GLE1 SIX3 MYF5 VPS37A MECP2 COASY ZC3H14 DCPS SLC19A3 DLAT HTT HNMT MARS2 SLC2A3 GRIN2B PLP1 BSCL2 DMXL2 COQ9 GJC2 EPRS1 KCNQ2 SUCLA2 RNASEH2B ZIC2 MECP2 SLC44A1 KCNA1 TH ND3 JAM2 PDHA1 POLR3B GM2A ADCY5 TRPM3 FBXL4 MED23 FGF8 TCOF1 NPC1 SHH CNTNAP1 NDUFS2 CAMK2B NDUFS1 UBA5 CACNA1A TBCD DRD2 NDUFA12 NODAL PLEKHG2 PTCH1 HTT ZIC2 VPS13C NPC2 PRRT2 MED25 CP SYT1 ECHS1 HTT DLL1 LINS1 NDUFV1 WASHC4 TGM6 SETX CASK SLC6A8 TRAPPC12 TUBB4A RNASEH2A CIZ1 CIC CKAP2L TWIST1 NDUFA13 GABBR2 TUSC3 NDUFA4 DEAF1 CACNA1A CARS2 PLAA DLD PLA2G6 CDON SIK1 ANO3 PINK1 SNORD118 EARS2 KIF1C POLR3A FOXG1 ECHS1 PSAP SNCA SCN2A PTCH1 SLC45A1 ARX C19ORF12 DNAJC6 STXBP1 CACNA1A GLI2 SLC6A3 TACO1 SCP2 SNCA JPH3 ATP6 C19ORF12 KCNMA1 MMUT PRKN EIF2AK2 CARS1 ACTB NDUFS3 KMT2B LIPT1 SET PMPCB TRNL1 PANK2 FGFR1 MARS2 PPP2R2B PNPLA8 TECR SGCE FBXO7 GCH1 MAT1A PCGF2 DNAJC13 COQ2 B3GALNT2 ARSA PSAP TACO1 PIK3R5 FA2H TSFM MAPT NDUFA10 ND2 AFG3L2 UFM1 SNCA CHMP2B ZNF142 ACTA1 SIGMAR1 TGM6 ASH1L HPRT1 TTPA UPB1 UGDH VAC14 MAPT NKX6-2 SLC2A1 SYT1 ND2 NTNG1 SPOP NDUFB8 GBA MBD5 MMUT SLC30A10 RSRC1 VAMP1 NDUFS7 FBXO31 SLC19A3 HIBCH PTS SLC2A1 COL6A2 TOR1A VPS13A TNIK PDGFRB CSNK2B BCAP31 ATP13A2 NDUFS8 PANK2 MAPT PARK7 SDHD ATP1A2 DNAJC12 NDUFAF5 GRIN1 PNKP SYNJ1 DRD5 STXBP1 SYNGAP1 CLIP1 ATXN3 COLEC11 TBP SARS1 CPLX1 SLC9A6 TRAPPC9 TPI1 RNASEH2C VAMP1 COL6A3 NDUFAF5 GCDH ND4 GRIN1 SNCA SDHAF1 PDHA1 ATP7B SIX3 CRBN GLI2 NADK2 PRRT2 BSCL2 GNAO1 COL6A3 ATM CDKL5 RNASEH2A TANGO2 HTRA2 SLC2A1 RHOBTB2 FARS2 SLC18A2 NEUROD2 GNAL CDON NDUFA9 NDUFS3 ND1 PRSS12 FBLN1 COL6A1 PIGP FXN NUP62 SLC39A8 FOXRED1 FTL GABBR2 TAF1 TSEN34 EDC3 PLA2G6 SLC39A14 ZIC2 PRRT2 ALDH18A1 KCTD17 GBA TRIT1 SLC6A8 FOXH1 NDUFA2 OFD1 ND6 NEK9 UBTF PARK7 GRIN1 SYNJ1 CHAMP1 EIF4G1 LONP1 TGFB2 NDUFV2 LRRK2 FGF8 GRIK2 RNASEH2B MCOLN1 ARSA PRKCG NDST1 ZC4H2 B4GALNT1 TTBK2 TGIF1 ANO3 NDUFAF3 NDUFAF2 PRRT2 B4GALNT1 TRNW SMC1A MTFMT FA2H SLC19A3 TDGF1 STX16 GIGYF2 SURF1 APTX ATP1A3 DLAT CHRNA2 UBTF HACE1 SUOX PTCH1 GNAL IREB2 LIPT2 DOCK8 B3GALT6 ATP1A3 VPS37A PRKN GABRB2 MYT1L GLI2 PDHA1 KCTD17 GLUD2 GAS1 TBP GAS1 COQ8A TRIM8 CASR WDR45 RAB11B PNKD SURF1 NDUFS1 SAMHD1 COQ2 TBC1D24 TGIF1 TMEM106B DNAJC6 ADAR WARS2 SCN2A CACNA1A FITM2 POLR3A TBC1D24 LMAN2L LIPT1 PTCH1 IFIH1 MRE11 CYB5A PIGC ARV1 RNASEH2C GNAS DNAJC19 TDGF1 PRKRA ATP13A2 SGCE GCH1 HK1 TRAPPC12 TSEN2 NDUFS2 COL6A3 SCN1B HPCA HIBCH TGIF1 STXBP1 KIRREL3 PCCB MAPT VPS13D METTL23 ATXN3 NDUFA9 AFG3L2 SYNE1 VCP HSD17B10 PNKP HPCA NKX6-2 COL6A3 TDGF1 AUH IQSEC1 C9ORF72 RAB11A DLL1 PGAP1 GDAP2 TBC1D24 HIVEP2 SHH SIX3 SNCAIP DMXL2 SLC25A22 ADAR POLR1C CP YY1 TCF4 COL4A1 MECR GNAO1 STAG2 TBP HPRT1 GFM2 GNAS ND6 SLC39A14 FGFR3 MAPT ALDH6A1 C12ORF4 FMN2 NDUFS4 MRE11 PINK1 COL6A3 MED12L TOR1A NKX2-1 GM2A MECP2 THAP1 GNAO1 NAXD NODAL GNAS SYNJ1 AFG3L2 ALS2 ATP6 DLL1 UQCRQ GAMT PLA2G6 DHDDS CACNA1B TXN2 CRADD DMXL2 FUS SLC25A42 KAT6A TANGO2 GRIN1 ATP6 MICU1 JPH3 ACOX1 NODAL AGTPBP1 TAF1 SETX COL6A1 SPR TRPV4 UCHL1 PIGQ DISP1 ATXN8OS NAA10
Protein Mutations 0
SNP 0