SNPMiner Trials by Shray Alag

rs12979860 (38) rs6971 (31) rs9939609 (11) rs6265 (11) rs738409 (11) rs7903146 (8) rs4680 (8) rs8099917 (8) rs11200638 (6) rs429358 (6) rs10490924 (6) rs7412 (6) rs16969968 (5) rs25531 (5) rs1801133 (5) rs1800497 (5) rs1799971 (4) rs4244285 (4) rs2832407 (4) rs1045642 (4) rs1544410 (4) rs10033464 (3) rs1761667 (3) rs6166 (3) rs1042713 (3) rs2023239 (3) rs1051730 (3) rs174537 (3) rs1006737 (3) rs2230199 (3) rs1128503 (3) rs2231142 (3) rs10455872 (3) rs6313 (3) rs1061170 (3) rs776746 (3) rs4588 (3) rs2069514 (2) rs1799963 (2) rs9332739 (2) rs2032582 (2) rs3745274 (2) rs6295 (2) rs12936231 (2) rs6280 (2) rs7103572 (2) rs35599367 (2) rs13266634 (2) rs1410996 (2) rs6025 (2) rs4129267 (2) rs70991108 (2) rs174547 (2) rs1127354 (2) rs362331 (2) rs53576 (2) rs35705950 (2) rs641153 (2) rs1695 (2) rs2234246 (2) rs10741657 (2) rs1800955 (2) rs2106261 (2) rs4149056 (2) rs2234237 (2) rs362307 (2) rs3808607 (2) rs1828591 (2) rs1800470 (2) rs1024611 (2) rs12785878 (2) rs3751143 (2) rs762551 (2) 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rs1786378374 (1) rs13376333 (1) rs17070145 (1) rs17561 (1) rs34489327 (1) rs7571842 (1) rs11133360 (1) rs2235321 (1) rs678849 (1) rs8069645 (1) rs35059413 (1) rs6454674 (1) rs2853884 (1) rs737865 (1) rs183489969 (1) rs7333181 (1) rs1143623 (1) rs71647871 (1) rs4149032 (1) rs17037122 (1) rs1062613 (1) rs2516513 (1) rs1048661 (1) rs11126727 (1) rs11568821 (1) rs1049524 (1) rs11568820 (1) rs1049522 (1) rs172378 (1) rs10994133 (1) rs924607 (1) rs2488457 (1) rs1143633 (1) rs11039155 (1) rs1143634 (1) rs2464266 (1) rs396991 (1) rs562696473 (1) rs11126731 (1) rs8105790 (1) rs10509681 (1) rs12041331 (1) rs1805010 (1) rs6013897 (1) rs16139 (1) rs2234693 (1) rs35652124 (1) rs4693608 (1) rs961360700 (1) rs2305948 (1) rs4343 (1) rs5743844 (1) rs4883263 (1) rs10033900 (1) rs4883264 (1) rs2243250 (1) rs2241193 (1) rs17614942 (1) rs2383206 (1) rs1800592 (1) rs613872 (1) rs4803217 (1) rs11031006 (1) rs1047768 (1) rs12208357 (1) rs4488809 (1) rs1800588 (1) rs2227902 (1) rs1549339 (1) rs3184504 (1) 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rs2062305 (1) rs3828057 (1) rs3790515 (1) rs11687951 (1) rs1800896 (1) rs254093 (1) rs4994 (1) rs4633 (1) rs1885988 (1) rs11099592 (1) rs6843082 (1) rs17611 (1) rs2228171 (1) rs1042173 (1) rs41432149 (1) rs926198 (1) rs12992677 (1) rs2305619 (1) rs1800888 (1) rs61729512 (1) rs2266782 (1) rs1653624 (1) rs664393 (1) rs2246704 (1) rs11959427 (1) rs4848306 (1) rs3765467 (1) rs2246709 (1) rs2089760 (1) rs2180439 (1) rs2242447 (1) rs2981582 (1) rs12654788 (1) rs5275 (1) rs1053230 (1) rs1906591 (1) rs2010963 (1) rs11102930 (1) rs2601126 (1) rs2854116 (1) rs2854117 (1) rs16944 (1) rs17778257 (1) rs16942 (1) rs1801282 (1) rs5751876 (1) rs762251 (1) rs3803662 (1) rs10264272 (1) rs28399433 (1) rs230561 (1) rs12654778 (1) rs4364254 (1) rs10177833 (1) rs2238071 (1) rs1801275 (1) rs10766197 (1) rs704010 (1) rs10937405 (1) rs2228480 (1) rs9526240 (1) rs17570669 (1) rs10407022 (1) rs4612666 (1) rs6746030 (1) rs889312 (1) rs243866 (1) rs2740565 (1) rs1558902 (1) rs8192620 (1) rs10865801 (1) rs58542926 (1) rs3789604 (1) rs1801260 (1) rs2273773 (1) rs10757274 (1) rs573112 (1) rs2244613 (1) rs10757278 (1) rs6330 (1) rs1056892 (1) rs11931074 (1) rs2075252 (1) rs1297860 (1) rs28459296 (1) rs2380205 (1) rs780094s (1) rs9557195 (1) rs11045585 (1) rs1801253 (1) rs1801132 (1) rs11569562 (1) rs2104772 (1) rs15524 (1) rs2854275 (1) rs2066842 (1) rs12255372 (1) rs6323 (1) rs1057910 (1) rs1051375 (1) rs544684689 (1) rs2234237r25r (1) rs6318 (1) rs9826 (1) rs7120118 (1) rs12356193 (1) rs8111699 (1) rs7270101 (1) rs17042171 (1) rs1062033 (1) rs553668 (1) rs185670819 (1) rs1405655 (1) rs6311 (1) rs518147 (1) rs10401969 (1) rs4516035 (1) rs33996649 (1) rs10276036 (1) rs1465952 (1) rs2232618 (1) rs549927573 (1) rs41308230 (1) rs2293152 (1) rs2237060 (1) rs5215 (1) rs4820059 (1) rs12329760 (1) rs12676 (1) rs11083519 (1) rs16874954 (1) rs35597368 (1) rs1799983 (1) rs5573 (1) rs2229774 (1) rs2731886 (1) rs5574 (1) rs2302616 (1) rs12221497 (1) rs4973768 (1) rs5569 (1) rs2032892 (1) rs13281615 (1) rs4820268 (1) rs10079250 (1) rs1799750 (1) rs9366637 (1) rs4148738 (1) rs10456542 (1) rs25648 (1) rs9984723 (1) rs766996587 (1) rs2398162 (1) rs7291050 (1) rs1011970 (1) rs4253728 (1) rs12143842 (1)

SNPMiner SNPMiner Trials (Home Page)


Report for SNP rs4869675

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

There is one clinical trial.

Clinical Trials


1 Clinical Relevance of miR-142-3p as Potential Biomarker of Synaptopathy in Multiple Sclerosis

Inflammatory synaptopathy is a prominent pathogenic mechanism in multiple sclerosis (MS) and in its mouse model, which can cause excitotoxic damage by long-lasting excessive synaptic excitation and, consequentially, drives disease progression by leading to motor and cognitive deficits. As synaptopathy occurs early during the disease course and is potentially reversible, it represents an appealing therapeutic target in MS. Although reliable biomarkers of MS synaptopathy are still missing, recent researches highlighted miR-142-3p as a possible candidate. Indeed, miR-142-3p has been described to promote the IL-1beta-dependent synaptopathy by downregulating GLAST/EAAT1, a crucial glial transporter involved in glutamate homeostasis. Furthermore, mir-142-3p has been suggested as a putative negative MS prognostic factor and a target of current MS disease modifying therapies. The hypothesis of this study is that miR-142-3p represents a good biomarker for excitotoxic synaptopathy to predict MS course, and, possibly, treatment efficacy at individual level, including both pharmacological strategies and non-pharmacological interventions, like therapeutic transcranial magnetic stimulation (TMS) to ameliorate MS spasticity. To this aim, the role of miR-142-3p in MS synaptopathy, its potential impact on the efficacy of disease-modifying treatments currently used in MS therapy as well as the influence of genetic variants (SNPs) of miR-142-3p and GLAST/EAAT1 coding genes on the responsiveness to therapeutic TMS, will be further investigated in the study. By validating miR-142-3p as potential biomarker of synaptopathy, it is expect to improve MS prognosis and personalized therapies. Patients with MS, who will undergo neurological assessment, conventional brain MRI scan, and CSF and blood withdrawal for diagnostic and clinical reasons at the Neurology Unit of IRCCS INM-Neuromed will be enrolled in the study. Neurophysiological, biochemical and genetic parameters together with lower limb spasticity will be evaluated. Subjects, who will undergo blood sampling and/or lumbar puncture for clinical suspicions, later on not confirmed, will be recruited as control group. A subgroup of MS patients showing lower limb spasticity will be included in a two-week repetitive TMS stimulation protocol (iTBS) to correlate the patient responsiveness to this non-pharmacological treatment with MS-significant SNPs of both miR-142-3p and GLAST/EAAT1 coding genes.

NCT03999788
Conditions
  1. Multiple Sclerosis
  2. Spasticity
Interventions
  1. Procedure: lumbar puncture and blood withdrawal
  2. Procedure: Intermittent theta burst stimulation (iTBS) therapeutic protocol for spasticity
MeSH:Muscle Spasticity Multiple Sclerosis Sclerosis
HPO:Spasticity

The following SNPs in MIR142 gene coding for miR-142-3p: rs550842646, rs377637047, rs562696473, rs529802001, rs547987105, rs573562920, rs544684689 and rs549927573, and in SLC1A3 gene coding for GLAST/EAAT1: rs137852620, rs2032892, rs2562582, rs4869675, rs4869676, rs2269272, rs2269273, rs1049522, rs1049524 and rs2731886, will be analyzed.

Primary Outcomes

Description: Quantification of CSF levels of miR-142-3p by qPCR analysis. Relative quantification will be performed by 2^(-ddCt) method.

Measure: CSF concentration of miR-142-3p

Time: T0 (enrollment); MS patients vs Control subjects

Description: Quantification of CSF inflammatory molecules (TNF, IL-1β, IL-6, IL-17, IFN-γ, IL1ra, IL-22, IL-2, IL-2ra, IL-10, IL-4, IL-5, IL-13, IL-12p40, IL-8) by Luminex multiplex assays; neurofilaments, beta amyloid, tau proteins and growth factors (like NGF, PDGF and BDNF) by Luminex multiplex assays. Data will be expressed as pg/ml.

Measure: CSF concentration of soluble molecules

Time: T0 (enrollment); MS patients vs Control subjects

Description: Clinical disability will be certified by a qualified neurologist through the Progression Index (PI) calculated as EDSS combined with disease duration (EDSS/disease duration). Disease duration is estimated as the number of years from onset to the most recent assessment of disability and EDSS scale ranging from 0 to 10 in 0.5 unit increments that represent higher levels of disability.

Measure: Clinical disability assessment by Progression Index calculation for correlation analysis with CSF-miR-142-3p levels

Time: Changes from T0 (enrollment) to T12 (12 months), T24 (24 months), T36 (36 months), T48 (48 months), T60 (60 months) and T72 (72 months) of follow-up

Description: The Multiple Sclerosis Functional Composite (MSFC) is a three-part composite clinical measure. Three variables were recommended as primary measures: Timed 25-Foot walk; 9-Hole Peg Test; and Paced Auditory Serial Addition Test (PASAT- 3"). The results from each of these three tests are transformed into Z-scores and averaged to yield a composite score for each patient at each time point. There are 3 components: the average scores from the four trials on the 9-HPT; the average scores of two 25-Foot Timed Walk trials; the number correct from the PASAT-3. The scores for these three dimensions are combined to create a single score that can be used to detect change over time. This is done by creating Z-scores for each component. MSFC Score = {Zarm, average + Zleg, average + Zcognitive} / 3.0 (Where Zxxx =Z-score) Increased scores represent deterioration in the 9-HPT and the 25-Foot Timed Walk, whereas decreased scores represent deterioration in the PASAT-3.

Measure: Clinical disability assessment by MSFC calculation for correlation analysis with CSF-miR-142-3p levels

Time: Changes from T0 (enrollment) to T12 (12 months), T24 (24 months), T36 (36 months), T48 (48 months), T60 (60 months) and T72 (72 months) of follow-up

Description: By conventional MRI (1.5 Tesla) the following parameters will be evaluated: dual-echo proton density, FLAIR, T1-WI, T2-WI, and contrast-enhanced T1-WI after intravenous gadolinium (Gd) infusion (0.2 ml/kg). A new Gd+ lesion is defined as a typical area of hyperintense signal on postcontrast T1-WI. A new or newly enlarging lesion on T2-WI is defined as a rounded or oval lesion arising from an area previously considered as normal appearing brain tissue and/or showing an identifiable increase in size from a previously stable-appearing lesion. An active scan is defined as showing any new, enlarging or recurrent lesion(s) on postcontrast T1- and T2-WI.

Measure: Neuroradiological assessment for correlation analysis with CSF-miR-142-3p levels

Time: Changes from T0 (enrollment) to T12 (12 months), T24 (24 months), T36 (36 months), T48 (48 months), T60 (60 months) and T72 (72 months) of follow-up

Description: To assess synaptic excitability by SICI, ICF and LICI, motor thresholds will be calculated at rest as the lowest stimulus intensity able to evoke MEPs of about 50uV in 5 out of 10 consecutive trials (cts), and during a slight voluntary contraction of the target muscle (20-30% of the max voluntary contraction) as the lowest intensity able to evoke MEPs > 100uV in 5 out of 10 cts. The mean peak-to-peak amplitude of the conditioned MEP (cMEP), at each interstimulus interval (ISI), will be expressed as a percentage of the mean peak-to-peak amplitude of the test MEP (tMEP). PAS-induced LTP-like plasticity will be expressed as changes of the average MEPs size at each time point after PAS compared to the average baseline MEPs size. Before PAS, 25 MEPs, evoked by single TMS pulses over the APB motor hot spot set at an intensity to obtain MEPs size of about 1mV peak-to-peak, will be collected. The same stimulus intensity will be used to obtain 25 MEPs 0', 30' and 60' after PAS.

Measure: Neurophysiological assessments for correlation analysis with CSF-miR-142-3p levels

Time: Changes from T0 (enrollment) to T12 (12 months), T24 (24 months), T36 (36 months), T48 (48 months), T60 (60 months) and T72 (72 months) of follow-up

Description: To investigate miR-142-3p association with synaptopathy-driven disease progression (measured in terms of clinical or radiological changes and TMS variables), multivariable generalized linear models (GLM) will be applied considering miR level in the CSF as an independent variable adjusting for demographical, clinical, neuroradiological, neurophysiological, biochemical factors and treatments. In the case of unsuccessful identification, Principal Component Analysis (PCA) will be performed to evaluate the miR contribution with other molecules in the CSF (as cytokines, chemokines, growth factors, neurofilaments, beta amyloid and tau protein) to synaptopathy-driven disease progression to reduce the number of variable examined and increase the power of multivariate analysis. Statistical correlations will be repeated on the identified PCA components including miR-142-3p as part of the component. The significance level is established at p<0.05.

Measure: Statistical correlation of miR-142-3p levels in MS CSF with disease and neurophysiological parameters

Time: T0 (enrollment), T12 (12 months), T24 (24 months), T36 (36 months), T48 (48 months), T60 (60 months) and T72 (72 months).

Secondary Outcomes

Description: miR-142-3p levels in the CSF will be assessed at T0, as reported above. The responsiveness to the DMT, who MS patients underwent as part of their clinical routine, will be evaluated according to clinical and neuroradiological parameters considered in the primary outcomes. Changes in such parameters will be evaluated at different time points during a six-year follow-up (T12-T0; T24-T0, T24-T12, etc). Both univariable and multivariable approaches and stratification of patients based on DMT treatment will be performed.The significance level is established at p<0.05.

Measure: Statistical correlation of miR-142-3p levels in MS CSF with patient's responsiveness to disease modifying therapies (DMTs).

Time: Time Frame: T0 (enrollment); Changes from T0 (enrollment) to T12 (12 months), T24 (24 months), T36 (36 months), T48 (48 months), T60 (60 months) and T72 (72 months) of follow-up

Description: Genetic screening will be performed on peripheral blood withdrawn from MS patients at T0. The following SNPs in MIR142 gene coding for miR-142-3p: rs550842646, rs377637047, rs562696473, rs529802001, rs547987105, rs573562920, rs544684689 and rs549927573, and in SLC1A3 gene coding for GLAST/EAAT1: rs137852620, rs2032892, rs2562582, rs4869675, rs4869676, rs2269272, rs2269273, rs1049522, rs1049524 and rs2731886, will be analyzed. Univariable and multivariable correlations of minor allele presence of each screened SNP with clinical, neuroradiological and neurophysiological parameters, detected in the primary outcomes (T0, T12, T24, T36, T48, T60, T72), will allow the identification of SNPs relevant to disease progression. The significance level is established at p<0.05.

Measure: Genotyping of SNPs in SLC1A3 and MIR-142 genes for correlation analysis with disease parameters

Time: Time Frame: T0 (enrollment); Changes from T0 (enrollment) to T12 (12 months), T24 (24 months), T36 (36 months), T48 (48 months), T60 (60 months) and T72 (72 months) of follow-up

Description: Lower limb spasticity will be evaluated in all recruited MS patients at T0 and during 6-year-follow-up. A subgroup of MS patients with lower-limb spastic symptoms and carrying SNPs in in SLC1A3 and MIR-142 genes relevant to disease progression will undergo therapeutic iTBS protocol daily for two weeks (interventional substudy) and spasticity will be assessed also immediately before the beginning (W0) and after 2 weeks at the end of the protocol (W2). The H/M amplitude ratio of the Soleus H reflex will be evaluated by EMG recordings as an index of spinal excitability. Compound motor action potentials (cMAPs) and H reflex will be evoked by electrical stimulation of the tibial nerve. The maximum amplitudes of the H reflex (H) and CMAP (M) potentials will be measured from peak to peak and H/M ratio was calculated by dividing the maximal amplitude of H wave by that of M wave.

Measure: Lower limb spasticity assessment by H/M amplitude ratio for the therapeutic TMS substudy

Time: Changes from T0 (enrollment) to T12 (12 months), T24 (24 months), T36 (36 months), T48 (48 months), T60 (60 months) and T72 (72 months) of follow-up; Changes from the starting day (W0) to the end of the 2-week iTBS protocol (W2).

Description: Lower limb spasticity will be evaluated in all recruited MS patients at T0 and during 6-year-follow-up. A subgroup of MS patients with lower-limb spastic symptoms and carrying SNPs in in SLC1A3 and MIR-142 genes relevant to disease progression will undergo therapeutic iTBS protocol daily for two weeks (interventional substudy) and spasticity will be assessed also immediately before the beginning (W0) and after 2 weeks at the end of the protocol (W2). The Modified Ashworth Scale (MAS) assesses resistance during passive soft-tissue stretching ranging from 0 to 4 score.

Measure: Lower limb spasticity assessment by MAS score for the therapeutic TMS substudy

Time: Changes from T0 (enrollment) to T12 (12 months), T24 (24 months), T36 (36 months), T48 (48 months), T60 (60 months) and T72 (72 months) of follow-up; Changes from the starting day (W0) to the end of the 2-week iTBS protocol (W2).

Description: Minor allele presence of each screened SNP in SLC1A3 and MIR-142, identified at T0 as relevant to disease progression (see above), will be correlated with changes in spasticity parameters (the H/M amplitude ratio of the Soleus H reflex and MAS score) upon the iTBS treatment (W2-W0). The significance level is established at p<0.05.

Measure: Statistical correlation of response to iTBS treatment with MS-significant SNPs of both SLC1A3 and MIR-142.

Time: T0 (enrollment); Changes from the starting day (W0) to the end of the 2-week iTBS protocol (W2).


HPO Nodes


HP:0001257: Spasticity
Genes 1257
EZR SPG11 SLC6A5 PDHX TRNK EEF1A2 SLC16A2 ALDH18A1 PET100 TIMM8A KCNA1 CLTC PEX3 WASHC5 SCYL1 TREX1 IARS1 GRIA2 CACNA1G SLC2A1 NDUFAF4 GTF2IRD1 WASHC4 KIF2A CNKSR2 POLR1C PHGDH PSAT1 ST3GAL3 ND1 NAA10 FDXR WASHC5 MTPAP STXBP1 TUBB4A ITM2B REPS1 DEGS1 ARSA ATXN3 DDHD2 AIMP1 AP4B1 PLP1 SPATA5 SETBP1 RPS6KA3 SVBP AARS1 ADAM22 STN1 LRRK2 CYP27A1 DCTN1 NDUFA6 FOXH1 L2HGDH TBC1D20 VPS13C TPK1 NACC1 ATL1 SDHA CAPN1 TARS1 OPA3 KCNQ2 GLRX5 TCTN2 PHGDH SPATA5 BRSK2 VAPB MYO5A GFM2 FDX2 RAB18 PMPCA TYROBP HCN1 NUP62 TBC1D20 NSD1 FARS2 MBOAT7 PIGA MTHFR KIF5C ERCC8 DLD GSX2 L1CAM VPS11 FOXH1 GABRA5 FAR1 SURF1 VPS53 GRIN2B ADD3 MCCC2 GPT2 SERAC1 CUX1 ATP6V0A2 ACER3 TRMT10A ARX SLC1A2 PANK2 SLC33A1 GAS1 GJA1 B4GAT1 TUBB3 SOX10 PHGDH TTC19 ERCC3 ACP2 KDM5B ISCA1 CDON IRF2BPL MTO1 ATP6V1E1 ERCC2 DISP1 PRPH NDUFAF6 PPP1R15B GABRA2 AMACR ARL6IP1 GALC SDHA MED25 ACTL6B PRDM8 SIL1 MAN1B1 KCNB1 RTTN GRIN2B PSAP SLC18A2 FA2H EEF1A2 HPDL CDH15 TDGF1 ALS2 KDM5B SLC25A10 SLC2A1 HMGCL CACNG2 NTRK2 RAB3GAP2 RFT1 COX15 PCDH12 APC2 SLC35A2 GLI2 CNPY3 FGF8 CDKL5 ANK3 NEFH CSF1R SDHA REEP2 ATXN8 MAPK8IP3 SCO2 ARSA ERCC2 SOX2 WDR4 TAF2 CLCN4 ALDH18A1 AP4B1 ATXN3 ARL6IP1 RAD50 TAF1 GTPBP2 CYB5R3 STXBP1 POU3F3 PPP3CA ANG INTS8 PNKP CACNA1E AUH SCN2A PAX3 NT5C2 CCDC88C DISP1 STAG2 LMX1B KRAS KCNA2 MAG ADSL SIX3 AP1S2 PEX7 COASY L1CAM C19ORF12 ZC3H14 DCPS SLC19A3 DCX L1CAM MARS2 SLC25A15 MAG PEX13 BSCL2 UNC80 GK GJC2 VCP SUCLA2 RNASEH2B ZIC2 GABRA2 REEP1 SACS TRPM3 MED23 CTNNA2 FGF8 CYP7B1 CASK EIF2B3 NPC1 SHH CNTNAP1 GRM1 NDUFS2 SYNGAP1 WWOX SPART UBA5 CCDC88C HSPD1 PLP1 NODAL ATXN1 ZFYVE26 ERLIN2 GUF1 DAO HTT ZIC2 ZFYVE27 COG2 NPC2 SLC5A6 EZH2 SCYL1 MED25 TUFM ADAT3 ECHS1 DLL1 LINS1 ERLIN1 RERE FLNA CASK DHDDS FRRS1L SLC6A8 PEX14 DYNC1H1 FGF12 PQBP1 DEAF1 PLA2G6 EPM2A EED SIK1 TBC1D23 PINK1 SNORD118 IARS1 EPHA4 CHCHD10 CIT SLC13A5 KIF1C C12ORF65 FOXG1 MAN2B1 PTCH1 ARX SPG7 STUB1 L1CAM NDUFS4 UGP2 GLI2 RANBP2 SLC2A1 TACO1 ATXN10 TAF15 BSCL2 BCOR C19ORF12 SPG11 PRKN KMT2B SCYL2 ALG11 SET CLP1 XPC PMPCB ELP2 TRNI PDCD1 L1CAM ACP5 PNPLA8 EXOSC9 ATAD3A TECR FBXO7 KIF5A GALC ALDH3A2 EIF2B5 LMNB1 GLE1 PSAP TACO1 PLP1 ATP2B3 ALDH18A1 LYRM7 SIGMAR1 GBA2 ODC1 ASH1L RPIA HPRT1 TARDBP OPA1 ATP6AP2 CACNA1A SLC2A1 WDR73 GBE1 NTNG1 DHPS CTNNB1 GBA MBD5 SLC30A10 RSRC1 CHP1 ERLIN2 C12ORF65 PNP PTS OCLN SLC2A1 XPA PON2 UFC1 TNIK WWOX KATNB1 ATRX SYNJ1 STAMBP INPP5K EZH2 GBA MTPAP SPTBN2 MPLKIP STXBP1 SYNGAP1 PPP1R15B CLIP1 TBP TSEN54 TIMM50 AGA TPI1 HSD17B4 LIMK1 PDHX ZNF592 SDHAF1 MCCC1 DARS1 CTSD DARS2 ERCC3 TAF2 ATAD3A SPART GLI2 KANK1 STUB1 EIF2B4 GNAO1 HLA-DQB1 MCCC1 RAB3GAP2 CDKL5 TIMM50 RNASEH2A TANGO2 SNX14 SOD1 SPG21 ATL1 C9ORF72 FARS2 PLP1 NSUN2 ARX DNMT1 LMNB1 RNF113A PRSS12 FBLN1 PEX16 NDE1 SOX10 AP4M1 KLC2 TAF1 GSS PNPLA6 ERCC2 PLA2G6 SLC39A14 TUBB3 CLCN4 ADGRG1 NEU1 MFSD2A HEPACAM PEX6 KIF1A FOXH1 NDUFA2 CYB5R3 PARK7 GRIN1 PLCB1 BEAN1 GLRB NT5C2 RARS2 GRIN2D HNRNPA1 MECP2 NDUFV2 IDUA AMPD2 MCOLN1 ARSA BCL11B NDST1 MACF1 B4GALNT1 TGIF1 SETBP1 NDUFAF3 NDUFAF2 B4GALNT1 ERLIN2 UNC80 PEX2 PEX10 KY WDR45B RNU4ATAC FA2H ADARB1 ERCC6 IBA57 GOT2 UBTF DOCK8 VPS37A CNTNAP2 GABRB2 CLIC2 RTN2 TRMT5 GAS1 TRIM8 RAB11B FIG4 PSAP ERCC5 SURF1 ZFYVE26 GLT8D1 SLC1A4 ASAH1 COLGALT1 DNAJC6 GBA MECP2 POLR3A TDP1 ATRX ZFR PI4KA RUSC2 MED13L LIPT1 PTCH1 NR2F1 MRE11 TRAK1 ANG RAB18 DNAJC19 TDGF1 COL4A2 ATP13A2 ANXA11 SACS SEPSECS TRAPPC12 KIF11 MSL3 DDHD1 TSEN2 NDUFS2 TGIF1 STXBP1 ZEB2 UBQLN2 L1CAM ATXN8OS MAPT VPS13D SPTAN1 NEFH NALCN GPHN ATAD3A PQBP1 TELO2 METTL23 ATXN3 AFG3L2 PAX3 HSD17B10 TP53RK GLRA1 TDGF1 PEX19 IQSEC1 GBA2 PEX5 PRNP RAB11A DLL1 PGAP1 MICOS13 HIVEP2 SHH CYP2U1 SIX3 ADAR TSEN15 GALC TCF4 COL4A1 STAG2 NEK1 GFM1 TREM2 PGAP1 ATRX KIF1A SLC39A14 BOLA3 C12ORF4 TFG PPARGC1A SQSTM1 DDX3X NARS2 MED12L SOD1 PEX11B SPG7 LIAS SCN3A GLB1 PQBP1 PLP1 SELENOI AFG3L2 ALS2 DLL1 EXTL3 PLA2G6 EXOSC3 FUS ARX OSTM1 SMPD1 ATP6V1A MRM2 NODAL AGTPBP1 OPA1 RAB27A L2HGDH SETX ISCA2 PRPH AUTS2 CLPB UCHL1 KCNA1 ABCD1 NALCN MTHFS ATXN8OS TGIF1 PIGU WDR45 INPP5K PEX6 SOD1 PCYT2 NODAL UCHL1 NSUN2 TRAPPC4 WARS2 NDE1 NECAP1 POLR3B DDB2 CASK PUM1 SHH ARX GABRG2 RLIM HACE1 OSGEP POMGNT1 MRPS34 EIF2S3 ZNF335 ARX TRNP GJC2 ATP13A2 RAB3GAP2 TTR AARS2 AARS1 SPTBN2 KCNJ6 CTNNB1 SNX14 CACNA1G HUWE1 AIMP1 GAN SYNJ1 ERCC6 PSAT1 RAB3GAP1 BCOR EPB41L1 HSPD1 PSAP FGF8 GAS1 KCNQ5 PRPS1 CPT1C PODXL ABHD12 CLIP2 SPAST GPAA1 AP4S1 SLC13A5 CCT5 CC2D1A CYP27A1 PAFAH1B1 DLL1 PEX3 SIX3 FOXG1 TELO2 ELN IKBKG FUCA1 MCCC2 KIDINS220 THOC2 CLTC DCTN1 PET100 PSEN1 ND4 SOX4 CKAP2L AP4M1 CYP7B1 CDON SON ADAR RARS1 ACTL6B SDHAF1 RANBP2 GABRB2 RETREG1 TARDBP MATR3 SPG11 HPDL GFAP GJA1 BCS1L MRPS22 FRRS1L SCN3A OPHN1 TRNF ZC4H2 EDNRB PLA2G6 NTRK2 SLC25A12 PNPLA6 AP5Z1 ARX CDK19 OPA3 SLC30A10 RARS1 SHH ITM2B TRNV NUS1 COQ5 SLC2A1 CAPN1 ZIC2 CYP2U1 DENND5A MARS1 TRNL1 ROGDI PFN1 GALC RNF13 TPRKB SLC17A5 ZMYND11 DISP1 TOE1 NAGA IDUA ARG1 CTC1 MED25 GBA TMTC3 FOXH1 AP4E1 YWHAG IKBKG PNP ARX TSEN54 NAGA NDUFA12 SIGMAR1 GABRA5 AMPD2 ABCD1 AP4S1 MOCS1 DSTYK DARS2 NADK2 COASY TREX1 GRIA4 FGFR1 FTL ND5 IFIH1 KIF1A DNM1L ATP6AP2 PHACTR1 AFG3L2 RNASET2 TAOK1 FBXO7 JAM3 GCDH ALS2 WDR73 DYNC1H1 MICOS13 ACAT1 WDR62 CAMK2A SIL1 CNOT1 DALRD3 PANK2 SPR ZEB2 CCNF MECP2 ATP6 HTRA1 HNMT GRIN2B PLP1 SLC25A15 DMXL2 DNMT1 ATXN8 EPRS1 MFF ASPA MECP2 PLP1 SYNE1 ND3 ARSI PDHA1 TREM2 SUMF1 TMEM231 POLR3B GM2A RTN2 KDM5C MED17 CAMK2B MAN2B1 SCN1B TBCD AP3B2 ERBB4 TRNK PPT1 PTCH1 THOC2 GPAA1 VPS13C NUS1 KCNA1 NDUFV1 HMGCL WASHC4 UBA5 SATB2 PEX16 USP8 GLRX5 GJC2 ACP5 TRAPPC12 RNASEH2A CIC DNM1 ODC1 POLR3A GPT2 NDUFA13 GABBR2 TUSC3 NDUFA4 CARS2 ERCC1 REEP1 PLAA CLTC CDON TYROBP CHMP2B PAFAH1B1 KLC2 OTUD6B EARS2 TBCD WDR26 POLR3A IBA57 ECHS1 SNCA COX8A PYCR2 SLC45A1 GATAD2B C19ORF12 DNAJC6 STXBP1 NACC1 SLC1A4 NUP214 ERCC4 TMX2 SCN8A ASNS TBCE GLYCTK NOVA2 OCLN OPTN EIF2AK2 NDUFS3 LIPT1 LAMB1 TCF20 COG2 ERCC5 TRNL1 PANK2 SPG21 FGFR1 C12ORF65 MARS2 B3GALNT2 ARSA ALG11 LINGO1 DDHD2 ARNT2 L1CAM AP5Z1 CACNA1G NUBPL FA2H CPT1C PIGN NDUFA10 ND2 SLC13A5 NHLRC1 AFG3L2 UFM1 ADAT3 SNCA UNC13A PSAP TBK1 PFN1 ATM UGDH NKX6-2 CRLF1 SELENOI FGFR1 NDUFB8 ARG1 VAMP1 NDUFS7 EML1 ATP6V1A FBXO31 VCP TBL2 CSNK2B NDUFS8 COPB2 METTL5 PANK2 ATXN2 SPG11 SDHD NDUFAF5 GRIN1 NEXMIF FOXP1 RFC2 FUCA1 ATXN3 SDHB SARS1 TRAPPC9 RNASEH2C ELOVL4 VAMP1 TRNW ROGDI VWA3B GBA2 NDUFAF5 GJB1 GRIN1 NOTCH3 BICD2 FIG4 TUBG1 POLA1 SIX3 CRBN ATP6V1A ERCC4 PRUNE1 NADK2 BSCL2 ARV1 CACNA1D HTRA2 SPAST SZT2 SLC2A1 SAMHD1 ATP13A2 PNPLA6 NEFL NEUROD2 KIF1A CDON GBE1 SRPX2 PIGP FXN NUP62 DDX3X FOXRED1 DDHD1 ALS2 FLRT1 SLC33A1 SPG7 OPA1 CACNA1B BCL11B TFG EDC3 EIF2B2 ATAD1 HEPACAM ZIC2 PRRT2 ALDH18A1 ERCC2 CFAP410 MFN2 PTPN23 TRIT1 TUBGCP2 UBTF ENTPD1 TRAK1 POLG SYNJ1 CHAMP1 TUBA1A PEX12 KCNJ6 PON1 GAD1 ALDH18A1 FGF8 GRIK2 RNASEH2B CAMK2A ZC4H2 ASPA CYFIP2 PRDM8 ATXN2 TRNW SMC1A KDM5C MTFMT PRNP RTTN SDHD SLC19A3 HIKESHI TDGF1 IBA57 SEC31A SIX6 TBCE HACE1 RAB3GAP1 PARS2 PTCH1 IREB2 LIPT2 DSTYK KIF5A MYT1L GLI2 AMPD2 GAS1 CSF1R PPP3CA CACNA1D NDUFA13 PEX26 WDR45 NIPA1 LAGE3 AP4E1 MOCS2 ANK3 NDUFS1 SAMHD1 ATP7A TGIF1 CLP1 ARX MLC1 PCLO GTF2I WARS2 ABCC8 SCN2A ERLIN1 ELOVL4 BSCL2 CYFIP2 KCNA2 LMAN2L FRMPD4 WWOX GTF2H5 IFIH1 CLPB CYB5A ALDH3A2 OPA1 PIGC HPRT1 RNASEH2C REEP2 UBA5 EIF2B1 NIPA1 SCN1B KIF1C PARS2 ARF1 KCNA4 KIRREL3 ALS2 EXOSC8 PON3 DHDDS OTUD6B NDUFA9 SYNE1 DHCR24 TECPR2 GPHN NKX6-2 AUH ERCC6 SLC1A2 PMPCA RALGAPA1 GDAP2 ENTPD1 PNPLA6 LYST GBA SLC25A22 PGAP1 AIFM1 XPA NDUFV2 MECR APC ATXN7 HSD17B10 PPP3CA GFM2 ERCC8 STXBP1 ND6 GAN FAR1 KIDINS220 FMN2 NDUFS4 HLA-DRB1 MFF CHMP1A UBAP1 SLC52A2 WDR48 GM2A MECP2 GNAO1 NODAL NTNG2 GTF2E2 ATP6 KCNT1 BAZ1B ERCC4 MTFMT ALS2 VPS11 PLP1 PYCR2 TXN2 CRADD FUS GRIA3 GRIN1 PEX1 CLIC2 ATP6 DHCR24 ERCC3 DYNC1I2 COA8 C19ORF12 HSPD1 TOE1 TMEM67 CCT5 AP1S2 ERCC5 SUZ12 NEU1 PIGQ DISP1 ANKLE2 SDHA
Protein Mutations 0