SNPMiner Trials by Shray Alag


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Report for SNP rs2269273

Developed by Shray Alag, 2020.
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 Multiple Sclerosis Spasticity Procedure: lumbar puncture and blood withdrawal 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 1098
MICOS13 VPS11 SLC1A4 HEPACAM GLB1 SLC6A8 MICOS13 SYNJ1 LMAN2L NKX6-2 ERLIN1 SLC13A5 B4GAT1 REEP2 XPA RAB3GAP1 RNASEH2C CLP1 MAG OSTM1 NEFL CC2D2A PON1 ECHS1 SACS CLTC COASY SLC2A1 NDUFS7 ATRX NDUFV2 ADSL BOLA3 WASHC5 UCHL1 MTFMT SLC1A2 MED25 SLC2A1 TRAK1 SLC13A5 CHMP1A SCN8A CACNA1G RNASEH2A RAB3GAP2 MCCC2 REEP2 HLA-DRB1 WWOX DHPS RAD50 ATP2B3 AUH CNPY3 ATP7A IREB2 KIF1A NUP62 MTHFS SIGMAR1 PAFAH1B1 WDR45 GJA1 DNMT1 SDHB ERCC3 HLA-DQB1 GAN DYNC1I2 NT5C2 NEK1 PNPLA6 RPIA RNF113A SETBP1 ZC3H14 ANK3 SLC35A2 L2HGDH PIGQ GATAD2B BCOR UCHL1 REEP1 TRNW MECP2 OCLN CACNA1B C9ORF72 POMGNT1 UNC13A ALDH18A1 TRAPPC12 KIF5A TIMM50 MAG PAX3 TREX1 ARX AGA SEPSECS SERAC1 DDX3X CASK NALCN ERCC2 ALDH18A1 VPS13C EXOSC9 COL4A2 BCS1L DSTYK ARSA PLP1 LAMB1 SLC39A14 FA2H PEX7 MTPAP NDUFV1 DDHD2 TRAPPC9 FAR1 COPB2 RAB18 PHGDH WDR45B ALDH18A1 ARSA ERBB4 TAF1 TBC1D20 ROGDI MED23 OPA1 NTNG1 TOE1 ABHD12 USP8 SDHA ATXN8OS NEXMIF ERCC4 ATAD3A EEF1A2 KCNB1 ACAT1 GTF2IRD1 ND5 CLPB SDHD LIAS ZFYVE26 NPC1 CTC1 AP4B1 CCNF SLC2A3 HACE1 RARS1 PSAP PLA2G6 TTC19 ALS2 NTRK2 TUBB4A SPG11 KIF2A SELENOI MACF1 GRIN2B CLTC PRDM8 KIF1A EXTL3 SPG7 TREM2 CYP2U1 GALC CLIP2 KLC2 PIGP ZFYVE27 SIL1 DNMT1 ZFYVE26 C19ORF12 SOD1 ERCC3 TSEN54 FRRS1L GJC2 TRMT5 UBA5 ATP13A2 TAF2 L1CAM PDHX KDM5B ERLIN2 ADAR MRPS34 VCP PEX19 IFIH1 PLA2G6 TARDBP PGAP1 MLC1 NKX6-2 ERCC2 OTUD6B TPK1 GNAO1 MAN1B1 OPA3 UGP2 PARS2 IQSEC1 ATRX EZH2 DNAJC6 IRF2BPL VPS53 MAPT GALC SDHD TRAPPC12 RAB18 LMNB1 NAGA HMGCL SIX6 DDB2 ERLIN2 SPART SLC2A1 NDUFA10 BCS1L TRNL1 GLRB TANGO2 KCNA1 ERCC6 ND3 EIF2B1 KIDINS220 FUS SPG7 CCT5 ELOVL4 SNCA MTFMT SOX10 ND6 FA2H KIDINS220 HUWE1 ARX KCNA1 FGF12 NDUFAF3 NIPA1 SLC13A5 CCDC88C NDUFA4 FTL CRBN GDAP2 EIF2S3 ABCC8 CYB5R3 PGAP1 SCN1B GJB1 NUS1 BCL11B AP5Z1 KCNA2 ERCC4 ATP6AP2 TRNF L2HGDH WASHC5 DNM1L OPA3 AMACR NR2F1 RTN2 MTO1 HSPD1 TRIT1 ASAH1 DCTN1 ERLIN1 DNM1 SOX4 CYB5R3 ASNS RAB3GAP1 EIF2B3 RTTN SCN3A DAO STXBP1 NDUFB8 AIFM1 SLC1A4 GBA2 POLG MAPK8IP3 SETBP1 BEAN1 POLA1 UBTF ERCC5 RPS6KA3 REEP1 NDUFA13 ERLIN2 GRIN1 ZNF335 SYNJ1 ISCA1 GCDH SPATA5 TUBB3 KCNT1 MRPS22 PLA2G6 HNRNPA1 SLC18A2 B4GALNT1 SNCA ARSA IBA57 SPG11 GALC SLC45A1 ALDH18A1 AP4M1 ND1 LAGE3 PODXL GLE1 NACC1 DCX SCN2A SPAST ABCD1 PEX3 NAGA TRMT10A COASY PDCD1 LRRK2 RNASEH2B UBA5 GBA ADAR MAN2B1 IKBKG PPT1 HMGCL POLR3B MARS2 AFG3L2 SLC30A10 MED17 PEX6 MECP2 FXN BCOR CNTNAP1 TPI1 ATXN8 KCNQ2 SPR SDHAF1 DDHD1 AFG3L2 IKBKG ANXA11 COX10 FBXO7 MFN2 ADAT3 VPS37A ATP6V0A2 WDR48 COG2 BCL11B GBA2 WDR45 HTRA2 BAZ1B CYFIP2 GRM1 EIF2B5 NDUFS4 PRDM8 CAPN1 CYP7B1 TOE1 ATXN3 PCYT2 C12ORF4 EARS2 L1CAM ARX UBTF CACNA1G COA8 CLPB EPRS1 CASK SIGMAR1 TYROBP CPT1C ENTPD1 GLYCTK BSCL2 TREM2 TNIK TACO1 PINK1 BSCL2 ADAT3 B4GALNT1 GBA VAMP1 KLC2 ERCC3 TARDBP PQBP1 MED25 POLR3B ATAD1 TBK1 VWA3B SLC2A1 MECR FMN2 NDUFV2 L1CAM APC TRNP ROGDI HSPD1 ACP2 WDR26 RNU4ATAC CACNA1E SLC30A10 NDUFA6 PTS RTTN ATM SLC33A1 SURF1 AP4S1 L1CAM TIMM50 TBCE RETREG1 STXBP1 SLC52A2 FIG4 ALS2 RLIM KIF1C ALS2 KANK1 GBA PNPLA6 TSEN15 SPART IBA57 L1CAM SETX ERCC2 CHCHD10 PDHA1 SLC25A15 CNTNAP2 PAX3 TBCE RPGRIP1L OTUD6B JAM3 RANBP2 HIKESHI KCNA4 PNKP ATP6 CHP1 B3GALNT2 NDST1 PRPS1 KIF11 SACS NDUFS2 ND4 OPA1 KDM5C PEX10 FLRT1 ELOVL4 DHCR24 DLD TRNK VCP TBCD FRRS1L GRIN2B COLGALT1 TRAPPC4 AFG3L2 NACC1 ATXN7 SLC25A22 WDR73 ATP6V1E1 MARS1 RNASEH2A NDUFA13 SUMF1 POLR1C KCNA1 TRNV PSAP GABRA5 C12ORF65 ARL6IP1 ATXN1 PSAP TMX2 C12ORF65 PLP1 CACNA1D ANKLE2 GM2A TDP1 IFIH1 SCN3A ALS2 MCOLN1 EXOSC8 RNASET2 MCCC2 AARS1 NDE1 CPT1C SCN1B GBE1 PLAA CLIC2 DSTYK PHACTR1 SLC16A2 OSGEP SNX14 PFN1 HACE1 HEPACAM NDUFS1 TMEM231 LIMK1 LIPT1 MARS2 MPLKIP SUCLA2 EIF2B4 PSAP GPHN NARS2 ATXN8OS SURF1 ARX MYO5A NOTCH3 SPTAN1 NUBPL ELN NDUFS8 CNKSR2 NADK2 GSS AARS2 PNPLA8 SLC1A2 VPS13C ECHS1 ADAM22 MED13L PNP PRPH PPARGC1A CLIC2 KMT2B BICD2 C19ORF12 SYNJ1 ADD3 ELP2 ALG11 UFM1 ZNF592 TRAK1 XPC PPP3CA PET100 SLC17A5 AP4E1 NDUFAF2 PHGDH TELO2 KIF1A EML1 HSD17B10 PRNP SLC33A1 TAF2 HPRT1 ATXN3 RARS2 DENND5A GABRA2 SCO2 NDUFS2 SLC25A22 CLIP1 CACNA1G TMTC3 KDM5C SPG11 TBCD OPTN ZC4H2 TSEN2 GBE1 CAMK2A MAN2B1 LIPT2 UFC1 GJC2 L1CAM ANK3 UBAP1 WWOX SOX2 FTL NTNG2 NADK2 UNC80 PEX1 PIGN FBXO31 GFM2 MED25 CKAP2L PNPLA6 PRUNE1 RERE KIF5A MBOAT7 COL4A1 FOXRED1 TBP UBQLN2 GALC KY SQSTM1 SYNE1 RNASEH2B STAMBP GLRX5 DHDDS FARS2 TFG PFN1 STUB1 TECPR2 PEX16 ARX SLC2A1 ARSA PEX11B SLC19A3 TBC1D23 CACNA1A ALS2 DARS2 TFG PEX5 GPT2 AP5Z1 RFC2 DMXL2 INPP5K SLC6A5 SDHAF1 C12ORF65 SIL1 GABRG2 MCCC1 TUBA1A FAR1 GTPBP2 GJA1 PRRT2 PEX12 MOCS2 DCTN1 IDUA DHCR24 MCCC1 GABRB2 FOXP1 STN1 GCDH ARNT2 RAB3GAP2 NDUFAF5 NDUFA12 FRMPD4 SDHA ATXN2 TXN2 NECAP1 SZT2 ISCA2 LYRM7 DDHD2 SLC25A15 FBLN1 FUCA1 MECP2 VPS11 NEFH TCF20 GRIA3 ARX AARS1 WDR62 TBC1D20 PRSS12 SPG7 GUF1 SCYL1 AP4B1 AUTS2 PSAP SOD1 ENTPD1 STXBP1 EPM2A YWHAG SLC39A14 CLP1 NAA10 RAB11B RSRC1 ARSI ST3GAL3 TIMM8A HSPD1 KCNA2 TARS1 CARS2 COX15 TCTN2 ASPA CYP2U1 OCLN FBXO7 CHMP2B SMPD1 MFF CFAP410 ATP6 PLP1 ARG1 RNASEH2C POLR3A PYCR2 MTPAP CDKL5 TRNW TUSC3 KCNJ6 ERCC2 GPT2 PPP1R15B CCDC88C AIMP1 NDUFA2 AP1S2 AMPD2 ALDH3A2 DHDDS RAB27A TMEM67 ATP6AP2 GPHN CLCN4 DDX3X HPRT1 NT5C2 EDC3 NIPA1 ATL1 ALDH18A1 NEUROD2 IARS1 PEX3 NSUN2 COG2 MECP2 EPHA4 SNORD118 SLC2A1 PYCR2 ARX HCN1 NDUFA9 SLC25A12 SON TPRKB SYNGAP1 AFG3L2 MFSD2A OPA1 GBA NALCN NDUFAF6 NEFH CTSD ATP6V1A NUP62 FGFR1 RANBP2 ATXN3 DDHD1 CRADD CTNNA2 ACTL6B POLR3A ALG11 CSF1R ASPA C19ORF12 TREX1 PON2 PARS2 LINS1 SURF1 VPS13D RAB3GAP2 ATP6V1A INPP5K GTF2H5 BSCL2 ARX RFT1 PANK2 PEX26 PHGDH HTT HSD17B4 TUBG1 GNAO1 TUFM WARS2 BSCL2 ACTL6B ZFR AUH FUS ALDH3A2 ATXN3 EDNRB NTRK2 SAMHD1 SLC2A1 ITM2B GRIN1 SNX14 CNOT1 HTT TP53RK MATR3 PON3 PRNP GTF2E2 ATRX TRNI AGTPBP1 CASK LINGO1 MECP2 CTNNB1 AP4S1 CTNNB1 NPC2 SELENOI DCPS GPAA1 TAF1 RARS1 CDKL5 HTRA1 CAPN1 GLT8D1 NDUFAF5 ALS2 RUSC2 ATP6 KIF5C CYP27A1 PCLO PIGC CYB5A PEX13 UGDH GABBR2 PIGA ACP5 CYP7B1 POLR3A GAN SARS1 ATP13A2 SPG21 RTN2 PMPCB CCT5 GAD1 ERCC5 PARK7 EXOSC3 CC2D1A AMPD2 TAF15 KCNJ6 TRIM8 ATL1 EIF2B2 ATXN2 KIF1C MOCS1 REPS1 PNP SLC19A3 PEX2 AP3B2 FARS2 CYFIP2 PANK2 EZR PSAT1 KATNB1 STXBP1 PUM1 NDUFAF4 NUS1 GPAA1 SAMHD1 SYNE1 TYROBP NSUN2 PANK2 ERCC5 TRNL1 AIMP1 ATP6V1A SCN2A GRIN2D CSF1R TTR CLCN4 PANK2 SDHA GRIK2 GTF2I XPA LMX1B LIPT1 DEGS1 GJC2 FLNA NUP214 PPP1R15B GM2A PNPLA6 STXBP1 PGAP1 THOC2 UNC80 OPHN1 PMPCA GFAP DARS2 AMPD2 SPTBN2 PEX6 PSEN1 AP4M1 PCDH12 ATP13A2 EZH2 ITM2B IBA57 NHLRC1 SOX10 TSEN54 SCYL1 ARV1 ACER3 PRPH ATAD3A COX15 PQBP1 ARG1 FOXG1 CACNA1D GRIA4 ATXN10 VAMP1 DARS1 TUBB3 ARX CRLF1 GLRX5 ATXN8 C19ORF12 PLCB1 SCYL2 NSD1 SPG21 SDHA PRKN WDR4 CYP27A1 SPTBN2 GOT2 KRAS SPAST PPP3CA NDUFS3 AP4E1 NDUFS4 GFM1 GABRB2 HNMT ANG DNAJC19 ARL6IP1 VAPB SIK1 METTL23 WASHC4 TBL2 PEX14 OPA1 SUZ12 ANG LMNB1 FA2H TUBGCP2 GLRA1 ND2 PEX16 GBA2 STUB1 SPG11 DYNC1H1 NDE1 WWOX PSAT1 TECR TELO2 IDUA WASHC4 ARF1 UBA5 PLA2G6 MRE11 SPATA5 EED WDR73 TRNK AP1S2 DNAJC6 FUCA1 CIT FDX2
Protein Mutations 0