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 NCT02627664

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Prospective Study of Dysarthria, Swallowing Disorders and Respiratory in Parkinson's Disease

The investigators prospectively enrolled 64 early PD patients (less than 3 years after the first symptom) in order to prospectively assess the natural history of non-dopaminergic symptoms.

NCT02627664 Parkinson's Disease
MeSH:Deglutition Disorders Parkinson Disease Dysarthria
HPO:Dysarthria Dysphagia Oral-pharyngeal dysphagia Spastic dysarthria

1 Interventions

Name: observational study

Description: natural history of non dopaminergic signs
Type: Other
Group Labels: 1

observational study


Primary Outcomes

Description: BECD (French battery of clinical evaluation of the dysarthria) is a validated scale for qualitative assessment of dysarthria severity in neurological disorders, especially PD

Measure: dysarthria severity assessed by the BECD scale

Time: 2 years

Secondary Outcomes

Description: pulmonary function tests include spirometry with standard spirometer and maximal inspiratory and expiratory flow volume curves . At least 3 reproductible F-V curves are necessary. Values of FCV, FEV, peak expiratory flow, peak inspiratory flow, forced expiratory flow, SNIP were measured 12 hours after last levodopa intake (off drug)

Measure: respiratory insufficiency detection

Time: 2 years

Description: 150 mL glass of water test video fluoroscopy of swallow in off drug condition face and profile incidences: qualitative analysis of oral, pharyngeal, aspiration if necessary blindly assessed by 2 ENT experts in PD

Measure: swallowing function

Time: 2 years

Description: SWS test rhythmic tests for differens imposed frequencies (upper lower limb and facial) kinematic analysis of gait parameters by VICON (oxford metrics)

Measure: gait axial function (freezing)

Time: 2 years

Measure: Mattis scale

Time: 2 years

Measure: LARS scale

Time: 2 years

Measure: MADRS scale

Time: 2 years

Measure: PAS scale

Time: 2 years

Measure: MoCA

Time: 2 years

Description: To evaluate of cognitive and profile correlation to the polymorphisms of COMT (catechol-O-methyltransferase: Val158Met COMT) of MAPT H1 / H2 (microtubule associated tau protein) and ApoE (Apolipoprotein-E-ε2, 3, 4 )

Measure: Genetic Polymorphisme

Time: 2 years

Time Perspective: Prospective

Other


There is one SNP

SNPs


1 V158M

To evaluate of cognitive and profile correlation to the polymorphisms of COMT (catechol-O-methyltransferase: Val158Met COMT) of MAPT H1 / H2 (microtubule associated tau protein) and ApoE (Apolipoprotein-E-ε2, 3, 4 ). --- Val158Met ---



HPO Nodes


HPO:
HP:0001260: Dysarthria
Genes 723
PMPCA CA8 KCTD7 PRKRA PRDM8 CAMTA1 NDUFA10 DCC DYNC1I2 KCNA1 SPR PGM3 SLC13A3 CAPN1 TBC1D23 LIMK1 COX10 UBTF POLG GBA2 PRNP C12ORF65 FTL MECR GJB1 SOS2 COX15 GBA2 SLC30A10 ALS2 SLC2A1 MAPT HS6ST1 MARS2 TMEM106B TARS1 KLC2 TTR VPS13D WWOX TRNE SPG7 C19ORF12 SYNJ1 SLC9A1 NPC1 ITPR1 VAMP1 NUS1 ATXN2 AP4E1 C9ORF72 CSTB TDP1 LZTR1 CCDC141 IFRD1 SYNE1 ZFYVE26 FEZF1 ADH1C AUH NKX6-2 ELN SYT14 KCNC3 NFASC GDAP2 SPAST SLC44A1 GTF2E2 CHCHD10 SETX COASY TUBB4A PMPCA SEC31A GTF2I TUBB3 SELENOI MLH3 NUP62 PDGFB HPCA ATXN8 PLA2G6 DCTN1 IRF2BPL FAN1 DAB1 UROC1 PDYN RYR1 ATXN8 MSH2 DEGS1 TWNK PTPN11 SIL1 NOTCH2NLC ADAR MAG WDR73 VCP RARS1 SCN1A TTBK2 BRAF ARX BCS1L ELOVL5 MAP2K1 JAM2 ARSA TREX1 MATR3 FUS ATCAY HSD17B4 GLRX5 PRNP PLP1 ALDH18A1 GPT2 NDUFAF5 COASY HESX1 SOS1 CHD3 ERCC4 ABCA2 CP PSAP PANK2 NDUFV1 SLC2A1 ATXN2 MYORG MICOS13 SLC20A2 FMR1 LMNB1 ATP1A3 FLRT3 TWNK TBC1D24 ATXN7 PLP1 THG1L ZBTB11 AP4M1 PRKCG CACNB4 SCARB2 THPO AMACR TGFBR2 MED13L MYOT ELOVL4 POLG NDUFA13 LIPT1 SELENOI CHMP2B C12ORF65 CACNA1A RNASEH1 COQ2 PRRT2 MRAS AP4B1 NOTCH3 DUSP6 SCARB2 ATXN8OS XPR1 KIF1C VCP TOP3A NR4A2 TK2 SPG7 ELOVL1 ATXN1 PSAP SPG11 GFM2 GPAA1 MAPT DMXL2 NEK1 VAMP1 TPP1 CACNA1G PNKD COA7 FXN GBA2 WFS1 TARDBP SRPX2 ATXN10 SPG11 ATXN3 NDUFA9 SLC6A1 ATP1A3 TMEM240 MTPAP FBXO7 NDUFS7 TTBK2 WDR11 SPG21 GJA1 PGM3 WDR81 INPP5K PANK2 RAF1 SLC18A2 CP ITPR1 EIF2B1 UBQLN2 CYP27A1 PIK3CA OPA3 SLC17A5 CAMTA1 RRAS2 PUS3 SIL1 RAI1 NARS2 RERE SNORD118 BIN1 ALDH18A1 TRAPPC11 RANBP2 NDUFS7 TBK1 SQSTM1 ALDH3A2 RNU12 HTRA1 TWNK AARS2 RPIA KRAS MRE11 RFX5 SEMA3A LYRM7 SURF1 COLQ DCX GALC SRPX2 RRM2B AAAS XRCC1 FA2H DCTN1 ZC4H2 PCGF2 PEX6 TGM6 LRP12 JAK2 GOSR2 VWA3B BIN1 PEX2 TIMM8A GJC2 EIF2AK2 TK2 CPLX1 MTFMT PLP1 NDUFS3 HMGCL KCNC3 STAC3 ELOVL4 CIITA BEAN1 HSD17B10 GJC2 MAPT GPT2 SPART NDUFA12 TTN NDUFA9 SLC1A3 PLD3 SOX10 PLA2G6 NHLRC1 XK KRAS TECPR2 HEXB NKX2-1 ERCC8 NDUFA4 FBXL3 PSEN1 FLRT1 GCLC POLG GSS FGF14 C19ORF12 GFM2 MAPT STUB1 CHCHD10 CYP7B1 NDUFV2 ATP1A3 SNCAIP COQ2 PACS1 CWF19L1 ATP7B CCDC141 ADCY5 ENTPD1 SLC25A4 SURF1 COX15 REEP1 CTC1 NDUFA2 KCNA1 GJA1 AFG3L2 AFG3L2 AP2M1 MLH1 B4GALNT1 POLR3A SPEG PRNP SPART DDHD2 MAN2B1 PSAP MME POLR3A KRAS C9ORF72 TMEM240 SPTBN2 TREX1 ERLIN1 ATP13A2 NF2 SACS NDUFAF6 SDHA PFN1 PPP2R2B DDHD2 HMBS POLR3B RUBCN EIF2B5 CACNA1A RTTN FA2H TDP1 PRNP CCDC88C PPP1R15B FGF8 SLC2A1 CCDC88C GRID2 GLUD2 B4GALNT1 HPRT1 CHRNA1 ACBD5 SMS RTTN VAMP1 NDUFS1 BMPR1A FBLN1 TBCE PANK2 KCND3 PMS1 ZNF592 AP4B1 CLIP2 KLC2 RNASEH1 NDUFS2 GRM1 CACNA1A FUS RFXAP ADCY5 POLG SPG11 NDUFS8 TBK1 SPG7 FXN BAZ1B SNCA SERPINI1 ATM TBC1D24 RFC1 MMUT ALS2 GJB1 GCDH SNAP25 CSF1R ANO10 TBCE PDGFRB CACNB4 TTC19 RRM2B RFC2 ELOVL5 ERCC2 ARSA ERCC5 EBF3 PRKCG RAB3GAP2 TBP TANGO2 TBC1D24 ARX SOD1 REPS1 ANOS1 SLC2A1 ATP13A2 ADA2 ABCB7 MARS2 PLEKHG4 GLE1 ATXN7 FGFR1 PDGFB ADPRS KCND3 ADGRG1 ATXN3 PRPS1 ERCC3 AR EPM2A NSMF TTPA HPCA PNKP ATCAY ALDH18A1 PDHA1 CHRNE EEF2 NRAS ABHD12 CLN5 NPC2 PNPLA8 GALT MAP2K2 DARS2 JPH3 KMT2B TGM6 GJC2 PEX10 DCAF17 PI4KA ALDH18A1 MPLKIP EPCAM FIG4 SUFU GRM1 REEP1 ALDH18A1 ALS2 NONO GJB1 ITPR1 NDUFAF5 GRIN2A PEX10 FOXP2 MATR3 ATP13A2 SACS SPTBN2 NKX2-1 CBL SCO2 GPAA1 ECHS1 WWOX EZH2 THAP1 NDUFS4 NUTM2B-AS1 DMXL2 ATP2B3 SLC19A3 EIF2B2 NSUN2 POLG2 MTTP PRNP RRAS MTPAP PSAP ATP8A2 SQSTM1 NDUFAF6 WAC SLC18A2 PDE8B ENTPD1 TOR1A SDHA NDNF FGF17 PRDM8 ERLIN2 WFS1 FOXRED1 ATXN3 VCP SLC19A3 RFXANK WIPI2 PIK3R5 RUBCN SLC35A1 CSTB ATM GFPT1 GRHL3 PROK2 SYT14 IL17RD RASA2 SLC30A10 CARS1 TWNK RNF216 RPS20 GBA PRICKLE1 ATXN10 OPTN RIT1 NKX6-2 EIF2B4 KCTD7 RFC1 ALS2 POLR3B PRICKLE1 AP4S1 KISS1R SLC19A3 AFG3L2 PANK2 UBA5 SPG11 KCTD17 TARDBP GTF2IRD1 ATP1A3 CACNA1A SCN8A PRKRA AFG3L2 DNAJB6 ATP1A2 ERCC2 NDUFS8 ATP2B3 ATL1 DNAJC6 SAMD9L VAPB ATXN8OS ZFYVE26 THAP1 PLA2G6 SQSTM1 EIF2B3 MME FA2H UBB SEMA4A RAB39B CYP7B1 VPS13A DCAF17 ATN1 TECPR2 NOP56 VPS13A FAT2 PROKR2 PIEZO2 XRCC4 ARSA NEFH STUB1 SPRY4 KCNA1 ATXN3 TACO1 CLN3 PET100 MAPT CTSF CACNA2D2 ATXN2 POLG TRIM37 FGF14 KIF1C FARS2 OPA3 STUB1 PCNA NOP56 DRD3 COQ2 TBP NOTCH3 PEX16 MSH6 ALS2 SLC16A2 ANO10 ATXN1 TACR3 ATXN8OS MPL ERLIN1 DARS2 SYNE1 POLG PDE8B PDE10A CACNA1G FMR1 GLRX5 ATP7B ALS2 CHD7 APTX CWF19L1 NDUFAF2 LMNB1 A2ML1 ERCC3 CACNA1A HACE1 VLDLR PABPN1 NKX2-1 TPP1 FAM126A NUBPL RARS1 AR CISD2 ERLIN2 RRM2B RNF113A PDYN ATP6 HOXB1 ARSA ATP13A2 TBL2 NOTCH2NLC CAPN1 COQ2 CHRNA1 ATP13A2 SIGMAR1 GSN MRE11 DMPK GAN C19ORF12 HEPACAM GTF2H5 PMS2 SLC52A2 BEAN1 PUM1 CHD2 PRPH PDE10A ATP1A2 EEF2 GNS KCNA4
Protein Mutations 0
SNP 0
HP:0002015: Dysphagia
Genes 588
COL7A1 ZIC2 PRKRA HLA-DQA1 ND4 SLC1A4 GRHL3 COL7A1 NODAL DNAJC13 ECM1 TBC1D23 UBTF POLG NEB GBA2 PRNP COL7A1 NUP62 FTL RHBDF2 MECR NTRK1 SIX3 SDHC TYMP SNCA ALS2 MAPT HLA-DRB1 CHMP1A NDUFS1 TAF1 DKK1 EXOSC9 SERPING1 SPG7 SYNJ1 ATP1A3 NPC1 FGF8 VAMP1 ATXN2 TPM2 TP63 FBXL4 ZFYVE26 KY ACTA1 DISP1 GAS1 ADH1C CDC73 ACTB FOXH1 MECP2 NECTIN1 SYT14 SCN4A TP63 GDAP2 SLC44A1 NEB TRNL1 KLHL41 CHCHD10 RYR1 POLG CCR6 SETX TUBB6 DLL1 SIX3 CARMIL2 SEC31A ASPA NUP62 ATXN8 SDHC PLA2G6 DCTN1 IRF2BPL DAB1 ATXN8 MFF FOXH1 ATP6 CDON TAF1 SLC52A2 LAMB2 KLHL41 ADAR VCP GAS1 PAX7 TIMM8A NEB MATR3 HGSNAT SEMA3E TPM2 SPECC1L KIF5A NEUROD2 GNAO1 RLIM NODAL ACTA1 VAMP1 ACTG2 SHH DISP1 KLHL40 PMP22 SCN4A ND6 PSAP HLA-B PANK2 KIT GLI2 PYGM ATXN2 MYORG RERE ACTA1 DISP1 LMNB1 NF1 TWNK DMPK ATXN7 PLP1 FGF8 CARS2 TDGF1 POLG DNAJB6 CHMP2B PRPS1 DCX C12ORF65 GLI2 FGF8 CDON KLHL40 CACNA1A NCAPG2 RNASEH1 YY1 TRAPPC12 MYO9A NOTCH3 LINGO1 GAS1 SCARB2 ATXN8OS MSX1 ANKRD11 TOP3A NR4A2 TK2 SPG7 SURF1 FGFR1 HLA-DRB1 ATXN1 NDUFAF2 ND1 OPA1 ZEB2 SLC9A6 NEK1 VAMP1 GBA CACNA1G PNKD DGUOK TARDBP SRPX2 ATN1 TGIF1 APP GBA ATXN3 ACOX1 NDUFA9 SHH ATP1A3 TTBK2 IDH2 SPG21 PANK2 CDON PLAA STAG2 STXBP1 PLEC SIX3 UBQLN2 LBR CYP27A1 NGLY1 SCN4A PUS3 RAI1 LAMA2 TRNV QDPR PYROXD1 KIT SIK1 CHD7 DGUOK PLAA ZIC2 CHRND PUF60 TBK1 SQSTM1 CDH1 FGF8 SELENON MYOT SHH DLX4 COLQ SON SLC25A22 GALC CNTNAP2 SLC6A9 RRM2B STAG2 XRCC1 ZC4H2 CHRND TGM6 HTT NODAL LRP12 RRM2B NOS1 PTCH1 DLL1 TIMM8A ZIC2 WARS2 LMX1B ASAH1 ASAH1 TK2 ADD3 SLC2A3 GAS1 KCNC3 PIK3R5 TRIP4 IRX5 NDUFAF3 MAPT NEU1 FTL MFF PLEC DYRK1A FLCN PLA2G6 CDON DNM1L PIGA FLAD1 PSEN1 POLG IRF5 CCN2 FBXO7 CAV1 PTCH1 TPM3 MEGF10 MAPT GLI2 GLI2 MYH7 CHCHD10 SIX3 CYP7B1 SLC25A1 ATP1A3 SNCAIP ATP7B NDUFA6 SLC25A4 PTS REEP1 EPRS1 COL13A1 SDHA ND3 SMC1A AFG3L2 SCN3A IDH1 B4GALNT1 POLR3A GMPPA KIT SPART SCN4A CHAT ARX DDHD2 TUBB4A GIGYF2 GNAQ POLR3A C9ORF72 SLC18A3 NODAL NF2 SMC1A SACS GRHL2 SDHD PFN1 DDHD2 HMBS POLR3B CAVIN1 SDHB FA2H ADNP NRXN1 CCR6 GLUD2 HPRT1 CHRNA1 SLC5A7 SCO2 VAMP1 PTS PANK2 KCND3 SLC52A3 PDGFRA VARS1 RNASEH1 GRM1 GEMIN4 CACNA1A FERMT1 FUS GCH1 SNCA POLG SPG11 TBK1 MAPT SPG7 FXN SNCA BMP4 PLXND1 ALS2 GCDH KLHL41 GBA IRF5 SLC9A6 TPM3 RRM2B SIX3 SPG21 IRF6 TDGF1 EBF3 PRKCG TBP TANGO2 MRPS28 GRIN2D SOD1 REPS1 KAT6B ATXN7 DLG1 CDON ADGRG1 ATXN3 AR UBB PTCH1 HPCA KMT2A CHRNE NPC2 CLCN1 TK2 PDP1 MACF1 CHRNE CAV1 MYPN ZIC2 PI4KA ALDH18A1 LRRK2 ACOX1 FIG4 TDGF1 REEP1 ALS2 NONO FOXH1 GJB1 DYSF MATR3 ATP13A2 MYMK VPS35 EIF4G1 NUTM2B-AS1 FGF8 ACTA1 SLC19A3 GABRD POLG2 REV3L KCNAB2 TGIF1 CRLF1 WAC VAC14 ACTA1 PIGN NDUFB8 NDUFS3 ERLIN2 WFS1 ND5 PTCH1 FOXH1 IKZF1 ATXN3 GRM7 AGRN TDGF1 GFPT1 SYT14 MMP1 COLQ SNAP25 SHH MGME1 TWNK ZIC2 GLI2 CRYAB MID1 SKI ADCY6 MED17 GBA SDHB ATXN10 OPTN GAS1 POLR3B RERE MAP2K2 NDUFS2 ERLIN2 PANK2 TGIF1 CDC73 KBTBD13 NEB TARDBP LIFR PRKRA AFG3L2 BRAF DNAJB6 SETX SLC5A7 CNTNAP1 MAPT PTCH1 CHAT FOXH1 KCNK9 VAPB ATXN8OS TAF1 ITGB4 SQSTM1 GBA TGIF1 VPS13A NOP56 VPS13A NGLY1 CTNS NEFH STUB1 SLC52A3 ATXN3 MAPT FRG1 ASCC1 TDGF1 GUCY1A1 FARS2 TRNW DLL1 STUB1 CCN2 SHH PCNA NOP56 TGIF1 TBP NOTCH3 PEX16 TRNK YARS2 TBCD ATP7A ALS2 FGFR1 MYO9A ATXN1 MYH8 ATXN8OS HLA-DQB1 KCNK9 ND2 POLG PDE8B ARHGAP29 MMP1 CACNA1G FMR1 HTT LMNB1 KLHL7 SETBP1 SDHC UBTF DISP1 PABPN1 TANGO2 MYOT TUBB4A LMOD3 RARS1 ERLIN2 RRM2B NODAL COL7A1 SYT2 ATP6 QDPR HOXB1 DLL1 COQ2 POLR3A CHRNA1 DMPK C19ORF12 IRF6 NECTIN1 TPM3 TRAPPC12 MSX1 KIAA0319L DLL1 COQ4 PRDM16 TPM3 MPZ SDHB PRPH ZEB2 GNS DISP1
Protein Mutations 1
V158M
SNP 0