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 NCT02627664

Developed by Shray Alag, 2020-2021.
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 721
SPG11 NOTCH2NLC PRICKLE1 SLC16A2 ALDH18A1 PET100 TIMM8A FEZF1 GRID2 TOR1A COX20 CACNA1G SLC2A1 TRAPPC11 TECPR2 GTF2IRD1 GJB1 SLC20A2 POLR3B PUM1 RASA2 PRKRA NUTM2B-AS1 OPTN NR4A2 WDR11 CHRNE ANO10 DCAF17 ARX GJC2 PACS1 ATP13A2 MYORG TTR AARS2 MTPAP MME TUBB4A STUB1 ATXN10 SPTBN2 REPS1 DEGS1 ARSA ATXN3 POLG DDHD2 TBC1D24 DAB1 ATXN8OS AP4B1 GAN C9ORF72 CSTB RFC1 RIT1 KCND3 NKX2-1 PSAP FLRT3 GBA TGFBR2 KCNA1 ABHD12 CLIP2 SPAST GPAA1 ATL1 SDHA CAPN1 TARS1 CAMTA1 OPA3 NUS1 TBK1 GLRX5 CYP27A1 PNKD ATP1A3 TREX1 TBC1D24 GFM2 PEX10 PMPCA ELN PIK3CA POLG NUP62 TWNK ATN1 PEX10 DCTN1 RUBCN PSEN1 RYR1 GNS PMS2 SURF1 ITPR1 POLG AP4M1 PDGFB NDUFS8 GPT2 BIN1 CYP7B1 RRAS2 ADAR SLC9A1 RARS1 UBQLN2 PANK2 THPO RANBP2 ATCAY KRAS TK2 GJA1 SUFU AR ADCY5 NOTCH2NLC TUBB3 TPP1 TTC19 GJA1 ZC4H2 ABCB7 PRKCG KRAS ARX CLN3 IRF2BPL OPA3 MED13L FGFR1 SLC30A10 CBL NDUFAF6 RARS1 ERCC2 RUBCN MAP2K2 PUS3 UROC1 PIEZO2 SQSTM1 NDUFAF6 SLC2A1 COQ2 PPP1R15B CAPN1 AMACR CHD2 SDHA CNOT1 PFN1 EEF2 MATR3 SNAP25 GALC PRDM8 SIL1 RNF216 SLC17A5 PDYN SPRY4 SLC25A4 ATP1A3 DNAJB6 CTC1 RTTN PSAP GSN SLC18A2 FA2H MYOT AP4E1 KCNC3 SCARB2 ALS2 C12ORF65 FAN1 CACNA2D2 ADH1C VPS13A PDE8B COX15 NDUFA12 XK CWF19L1 ATXN1 THAP1 ATP13A2 ATP1A2 RRAS AP4S1 FGF17 DARS2 COASY FMR1 SLC13A3 ATXN8 PDYN ATXN2 ATXN2 ARSA FTL DCAF17 NKX2-1 MATR3 ALDH18A1 AP4B1 ATXN3 NDUFS7 TRIM37 TPP1 AFG3L2 GRIN2A ATXN7 SOS2 KCND3 AP2M1 AUH AAAS FGF8 SIL1 CCDC88C POLG KRAS PANK2 SPR MAG GLE1 GJB1 COASY HTRA1 SLC19A3 DCX MRAS VCP MARS2 MSH6 ACBD5 MME ERCC8 PLP1 GJC2 ATXN8 BIN1 XRCC4 VAMP1 SLC44A1 NOTCH3 PLP1 ZBTB11 SYNE1 JAM2 PDHA1 C9ORF72 REEP1 SACS BEAN1 HMBS POLR3B ADCY5 MSH2 FAT2 CAMTA1 CYP7B1 EIF2B3 NPC1 HS6ST1 GRM1 SYT14 NDUFS2 CACNA1A SLC35A1 WWOX SPART CCDC88C CACNA1A MAN2B1 NOP56 ELOVL5 ATXN1 ZFYVE26 ERLIN2 GPAA1 NPC2 EZH2 PCNA KCNA1 CP ECHS1 NDUFV1 ERLIN1 HMGCL UBA5 TGM6 RERE RFXAP PEX16 GLRX5 GJC2 SQSTM1 RNASEH1 GPT2 NDUFA13 ATCAY TTN NDUFA4 FBXL3 REEP1 GRM1 CHD7 CCDC141 PLA2G6 CHCHD10 EPM2A SOS1 TBC1D23 SNORD118 PDE8B TMEM240 KLC2 KIF1C POLR3A WIPI2 SPG7 EEF2 C19ORF12 STUB1 CACNA1A CLN5 TACO1 ATXN10 SNCA C19ORF12 TACR3 TBCE SPG11 ANO10 MMUT POLG2 EIF2AK2 CARS1 POLG THG1L NDUFS3 VAPB KMT2B LIPT1 PANK2 CHMP2B C12ORF65 MARS2 PPP2R2B RAI1 PNPLA8 SPEG FBXO7 PCGF2 COQ2 ARSA DDHD2 ALDH3A2 BRAF RPS20 EIF2B5 LMNB1 SQSTM1 PSAP TACO1 CACNA1G FXN NUBPL FA2H NONO ATP2B3 ALDH18A1 LYRM7 MAPT CSTB WFS1 NDUFA10 NHLRC1 AFG3L2 PLD3 PSAP FGF14 GBA2 TGM6 SCARB2 ATM RPIA ADPRS HPRT1 TARDBP TTPA PRNP PDE10A NSMF MAPT NKX6-2 SLC2A1 WDR73 SELENOI PGM3 MPL SLC30A10 VAMP1 KCTD7 NDUFS7 GALT SLC19A3 SLC2A1 EPCAM VPS13A SCO2 TBL2 PDGFRB TTBK2 RRM2B ATP13A2 NDUFS8 PANK2 ATXN2 MAPT TARDBP RFXANK FMR1 INPP5K SPG11 MTPAP NDUFAF5 PNKP MPLKIP SYNJ1 TBK1 CWF19L1 PRPS1 RFC2 ATXN3 DCTN1 RNASEH1 CPLX1 NOP56 ELOVL4 SAMD9L VAMP1 VWA3B GBA2 NDUFAF5 GJB1 FGF14 HSD17B4 GCDH ADA2 RRM2B LIMK1 ZNF592 NOTCH3 COA7 XPR1 TWNK ATP7B DARS2 ERCC3 SPART ERCC4 RFC1 STUB1 EIF2B4 RAB3GAP2 ATM PMS1 TANGO2 SOD1 SPG21 HESX1 ATP13A2 FARS2 KCTD7 FAM126A SLC18A2 TK2 SOX10 GOSR2 NSUN2 TMEM240 SRPX2 LMNB1 RNF113A NDUFA9 KISS1R ELOVL5 FBLN1 FXN FOXRED1 ALS2 FTL FLRT1 SPG7 RAF1 KLC2 MAP2K1 HEXB RAB39B CISD2 GSS EIF2B2 PLA2G6 VLDLR ADGRG1 GRHL3 ALDH18A1 ERCC2 SCN8A STAC3 MLH1 HEPACAM PEX6 COLQ SERPINI1 COQ2 CACNB4 NDUFA2 GFPT1 SRPX2 FOXP2 XRCC1 ATP2B3 UBTF ENTPD1 PTPN11 BEAN1 NDUFV2 ALDH18A1 POLG MTTP ARSA PRKCG TRNE B4GALNT1 TTBK2 WAC PGM3 NDUFAF2 ATP1A2 DCC IL17RD PRDM8 B4GALNT1 SPTBN2 RRM2B MTFMT PRNP RTTN FA2H SLC19A3 RFX5 SEC31A APTX ATP1A3 UBB CCDC141 DLAT TBCE SEMA3A A2ML1 HACE1 ELOVL4 PRNP ATP1A3 HOXB1 KCTD17 SEMA4A GLUD2 CSF1R TBP NRAS DMPK FIG4 PRICKLE1 NF2 ANOS1 SMS PDGFB PRNP PIK3R5 NDUFS1 TOP3A ZFYVE26 COQ2 TMEM106B VCP DNAJC6 GTF2I EBF3 CACNA1A DRD3 ERLIN1 POLR3A TDP1 TWNK CACNA1A PI4KA GTF2H5 MRE11 TWNK SLC1A3 CIITA PRKRA ATP13A2 SACS EIF2B1 FUS HPCA KIF1C BMPR1A KCNA4 ATXN8OS NEK1 MAPT PROK2 VPS13D CTSF NEFH ALS2 DUSP6 ATP8A2 ATXN3 NDUFA9 AFG3L2 SYNE1 TECPR2 HSD17B10 CHD3 HPCA PDE10A NKX6-2 SYT14 PLEKHG4 GBA2 NFASC PMPCA PRNP GDAP2 CA8 MICOS13 TBC1D24 TDP1 ENTPD1 JAK2 SNCAIP DMXL2 WDR81 MLH3 ITPR1 CP MECR WWOX PRRT2 ATXN7 NDNF HSD17B10 TBP GFM2 ABCA2 MAPT PROKR2 NDUFS4 LZTR1 MRE11 SCN1A NARS2 ATP7B SLC52A2 IFRD1 LRP12 NKX2-1 SPG7 THAP1 WFS1 PLP1 SELENOI GTF2E2 AR CHRNA1 AFG3L2 ALS2 ATP6 PEX2 BAZ1B RNU12 ALS2 PABPN1 ELOVL1 PLA2G6 PLP1 DMXL2 VCP GCLC ERCC3 DYNC1I2 JPH3 ITPR1 C19ORF12 SLC6A1 PRPH SETX ERCC5 KCNC3 KCNA1 ABCD1 CHCHD10 ATXN8OS CACNB4 MVK
Protein Mutations 0
SNP 0
HP:0002015: Dysphagia
Genes 639
TGIF1 ASCC1 PIGN NOS1 TRNK TIMM8A CLTC COL7A1 NODAL CACNA1G VPS35 KCNK9 CAVIN1 KAT6B PRPS1 NEB POLR3B COL7A1 SDHD SHH TUBB4A KIT PRKRA NTRK1 NGLY1 RLIM RRM2B NUTM2B-AS1 OPTN IKZF1 SPECC1L ND1 NR4A2 CAV1 CHRNE YY1 SLC5A7 MYORG STUB1 ATXN10 DNAJB6 REPS1 ATP1A3 NDUFAF2 ATXN3 DDHD2 DAB1 NEB MEGF10 NODAL ATXN8OS GUCY1A1 ACTA1 ARHGAP29 EPB41L1 DCX VARS1 PLEC FGF8 GAS1 KCNQ5 GBA NDUFA6 FOXH1 IRF6 SCN4A MSX1 ANKRD11 CHRND NEB MRPS25 LAMB2 KLHL41 TBK1 CCR6 BRSK2 CYP27A1 PNKD IRF5 QDPR TPM2 ADNP DLL1 SIX3 MYO9A TIMM8A POLG NUP62 GCH1 SATB2 DCTN1 PSEN1 GMPPA GNS FOXH1 GRIN2B ND4 ADD3 PTS CDON TAF1 CUX1 COLQ SON KLHL41 ADAR ACOX1 UBQLN2 PANK2 GAS1 CRLF1 MAPT TK2 MYOT AR NEB KMT2A SPG11 MYH8 SPECC1L TPM2 CCR6 SCN3A KDM5B ZC4H2 CDON RELN ACTA1 CHRND IRF2BPL SLC5A7 RARS1 SHH DISP1 SCN4A TRNV PUS3 KIT ZIC2 PYGM PFN1 SLC52A3 MATR3 GALC ZMYND11 DISP1 CHRNE MAP2K2 SLC25A4 KIT SHH DNAJB6 NCAPG2 FOXH1 EEF1A2 HPDL KCNC3 CDH15 LIFR TDGF1 ALS2 ADH1C VPS13A CACNG2 NGLY1 GLI2 FGF8 ATXN1 GAS1 KLHL40 ATXN8 SCN4A ECM1 ATXN2 SCO2 FGFR1 CAV1 SDHC FTL NECTIN1 ND5 KIF1A MATR3 IDH2 PUF60 PDP1 ATXN3 DNM1L UBE3A TAF1 AFG3L2 TAOK1 FBXO7 STXBP1 TDGF1 ATXN7 SLC52A2 PPP3CA ALS2 KCND3 DYNC1H1 ZIC2 UBB CAMK2A POLG DISP1 PANK2 ZEB2 STAG2 LMX1B QDPR SIX3 GJB1 SIX3 MRPS28 SLC2A3 PDGFRA PLP1 TPM3 ATXN8 EPRS1 GRIN2D FLAD1 MFF ZIC2 ASPA VAMP1 SLC44A1 NOTCH3 ADCY6 SLC25A22 ND3 POLR3A LAMA2 C9ORF72 REEP1 SACS NECTIN1 HMBS POLR3B TRPM3 FBXL4 FGF8 CYP7B1 NPC1 MED17 SHH GRM1 SYT14 CAMK2B CACNA1A DLG1 SIK1 NDUFS1 LBR CACNA1A NOP56 TBCD NODAL ATXN1 ZFYVE26 KIF5A ERLIN2 PTCH1 HTT ZIC2 SDHA SLC9A6 NPC2 PCNA SCN4A CDC73 HTT DLL1 SETX PEX16 TRAPPC12 TUBB4A SQSTM1 CIC ATP7A RNASEH1 MMP1 DEAF1 REEP1 PLAA PLA2G6 CDON CHCHD10 SLC6A9 TBC1D23 PDE8B PTCH1 TYMP POLR3A CCN2 HLA-DRB1 SNCA PTCH1 ARX TPM3 MGME1 SPG7 HLA-DQA1 C19ORF12 DGUOK STUB1 UBE3A FGF8 GLI2 SLC1A4 GLI2 AGRN BRAF SNCA CNTNAP1 POLG2 POLG ACTB VAPB APP SET SLC18A3 DLX4 SDHB TRNL1 PANK2 SPG21 FGFR1 MYH7 MYOT CHMP2B C12ORF65 RAI1 FERMT1 EXOSC9 MYMK FLCN DNAJC13 COQ2 CRYAB DKK1 LINGO1 DDHD2 LMNB1 SQSTM1 KLHL40 RHBDF2 VAMP1 CACNA1G PIK3R5 FA2H NONO ALDH18A1 MAPT WFS1 PIGA ND2 AFG3L2 DGUOK MID1 PSAP SIGMAR1 GBA2 TGM6 SCARB2 ASH1L HPRT1 TARDBP CNTNAP2 VAC14 KIAA0319L MAPT YARS2 NDUFB8 GBA MBD5 COL7A1 VAMP1 NRXN1 SLC19A3 PTS SDHC GEMIN4 COQ4 VPS13A CSNK2B RRM2B ATP13A2 PANK2 ATXN2 REV3L MAPT TARDBP FMR1 SPG11 CTNS SYNJ1 TBK1 STXBP1 SYNGAP1 ATXN3 RNASEH1 SLC9A6 NOP56 TP63 VAMP1 PLAA MADD GCDH KLHL41 SNCA RRM2B PAX7 CCN2 NOTCH3 TPM3 TWNK ATP7B SIX3 SPART TP63 GLI2 GNAO1 PYROXD1 TANGO2 SOD1 SPG21 IDH1 FARS2 MSX1 TK2 ATN1 SEMA3E CDON SRPX2 LMNB1 NDUFA9 NDUFS3 GRHL3 TGIF1 FXN NUP62 SMC1A ALS2 FTL TRIP4 SPG7 OPA1 TAF1 PRDM16 POLG UBE3A MYPN PLA2G6 ZIC2 ADGRG1 GBA TK2 DISP1 COLQ FOXH1 GFPT1 NF1 XRCC1 ACTA1 UBTF KCNK9 GRIN1 CHAMP1 EIF4G1 LRRK2 FGF8 ACTA1 RERE POLG DMPK PRKCG PLXND1 MACF1 SKI B4GALNT1 TTBK2 TGIF1 HLA-DQB1 WAC SETBP1 MAPT ACTA1 NDUFAF3 ERLIN2 RRM2B TRNW SMC1A KY CDON HLA-B CHAT TDGF1 DYSF SEC31A GIGYF2 ATP1A3 PMP22 UBTF SLC25A1 PTCH1 DOCK8 PRNP MPZ ATP1A3 HOXB1 FOXH1 MYT1L GLI2 GABRD GLUD2 TUBB6 GAS1 TBP GAS1 DMPK FIG4 NF2 DYRK1A SURF1 TOP3A TGIF1 KBTBD13 CARMIL2 VCP GBA MECP2 WARS2 EBF3 POLR3A TWNK HGSNAT PI4KA GNAQ MYO9A PTCH1 COL13A1 RYR1 KLHL7 TDGF1 PRKRA TRAPPC12 PLEC FUS NDUFS2 CARS2 TGIF1 ZEB2 KIRREL3 SELENON ATXN8OS NEK1 NEFH ALS2 ATXN3 SLC52A3 HSD17B10 HPCA TDGF1 SYT14 POLG CDC73 RAB11A DLL1 FRG1 GDAP2 HLA-DRB1 SDHB HIVEP2 SHH TPM3 SIX3 GBA SNCAIP RERE CHD7 NEUROD2 ERLIN2 TCF4 MECR GRHL2 STAG2 SYT2 ATXN7 TBP ND6 MMP1 MAPT MFF CHMP1A DLL1 MED12L LRP12 SPG7 LMOD3 NODAL GRM7 ACTG2 ASAH1 SNAP25 CHRNA1 ALS2 ATP6 DLL1 PABPN1 FUS TANGO2 MID1 GRIN1 ATP6 CDH1 SDHB BMP4 CLCN1 IRF6 ACOX1 IRF5 NODAL KCNAB2 SDHC PRPH SETX SERPING1 NEU1 CHAT ABCD1 IRX5 CHCHD10 ASAH1 ITGB4 OCA2 DISP1 ATXN8OS
Protein Mutations 1
V158M
SNP 0