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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NCT01141829 (1) NCT04148898 (1) NCT00443612 (1) NCT02081378 (1) NCT00612898 (1) NCT03972943 (1) NCT04667988 (1) NCT04644887 (1) NCT02785952 (1) NCT00708929 (1) NCT03615443 (1) NCT03548220 (1) NCT01756118 (1) NCT03807778 (1) NCT00671138 (1) NCT00749853 (1) NCT01582997 (1) NCT00815321 (1) NCT01398644 (1) NCT03236610 (1) NCT03053297 (1) NCT02590588 (1) NCT02125357 (1) NCT00245986 (1) NCT04505956 (1) NCT01341743 (1) NCT01339442 (1) NCT02833194 (1) NCT02403193 (1) NCT02630212 (1) NCT02408887 (1) NCT00647946 (1) NCT04396860 (1) NCT01237522 (1) NCT02474355 (1) NCT01761968 (1) NCT03731260 (1) NCT04311034 (1) NCT02091141 (1) NCT01063933 (1) NCT03890198 (1) NCT01789060 (1) NCT03168074 (1) NCT03215706 (1) NCT03588273 (1) NCT02387957 (1) NCT01299337 (1) NCT04148066 (1) NCT03046992 (1) NCT02422719 (1) NCT00173446 (1) NCT02754362 (1) NCT03160105 (1) NCT02782403 (1) NCT02838420 (1) NCT01159145 (1) NCT00794885 (1) NCT04410796 (1) NCT04358562 (1) NCT04143607 (1) NCT04306926 (1) NCT01810965 (1) NCT00433862 (1) NCT00949702 (1) NCT01744171 (1) NCT02314143 (1) NCT02713880 (1) NCT02199613 (1) NCT00687518 (1) NCT02923986 (1) NCT04325698 (1) NCT01014546 (1) NCT04568239 (1) NCT01700582 (1) NCT00672035 (1) NCT03115164 (1) NCT01068327 (1) NCT00464113 (1) NCT01933347 (1) NCT03452592 (1) NCT02186301 (1) NCT01120964 (1) NCT01791309 (1) NCT04629209 (1) NCT00644878 (1) NCT02550990 (1) NCT02965378 (1) NCT03842969 (1) NCT03952052 (1) NCT04484142 (1) NCT01396408 (1) NCT01274091 (1) NCT02412943 (1) NCT02117336 (1) NCT04673331 (1) NCT04607421 (1) NCT01861223 (1) NCT00089297 (1) NCT00570583 (1) NCT01245556 (1) NCT03087071 (1) NCT02292732 (1) NCT02034110 (1) NCT03716908 (1)

SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT03514784

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

Road to Discovery for Combination Probiotic BB-12 With LGG (Different Doses) in Treating Autism Spectrum Disorder Disorders

This protocol is a blinded randomized controlled study of the effects of BB-12 with LGG at different doses in 70 healthy children with autism spectrum disorders at lower and higher doses over an 56-day period and a 28- day observation period. The study is being conducted in order to assess safety and tolerability of the probiotic (BB-12 with LGG) at 2 different doses of BB-12 with LGG. Identifying effects on behaviors in healthy children with ASD using SRS-2 and ABC, GI symptoms using GI symptom severity index, and relevant biomarkers of inflammation, microbiota, and metabolites. Primary testing and procedures will be conducted at the University of Texas Health Science Center at Houston and Memorial Hermann. Biomarker identification includes Integrative analysis of plasma metabolome and stool microbiota will be conducted with the collaboration of Dr. Ruth Ann Luna and Dr. Jim Versalovic at Alkek Center for Metagenomics and Microbiome Research, Department of Molecular Virology & Microbiology of Baylor College of Medicine.

NCT03514784 Autism Spectrum Disorder Gastrointestinal Symptoms
MeSH:Disease Autistic Disorder Autism Spectrum Disorder Child Development Disorders, Pervasive
HPO:Autism Autistic behavior

3 Interventions

Name: BB-12 with LGG (Higher Dose)

Description: BB-12 with LGG - Higher Dose (10 billion CFUs)
Type: Drug
Group Labels: 1

BB-12 with LGG (Higher Dose)

Name: Placebo

Description: Maltodextrin
Type: Drug
Group Labels: 1

Placebo

Name: BB-12 with LGG (Lower Dose)

Description: BB-12 with LGG - Lower Dose (1 billion CFUs)
Type: Drug
Group Labels: 1

BB-12 with LGG (Lower Dose)


Primary Outcomes

Description: Adverse events (Safety) will be measured by case report form (survey) that are related to BB-12 with LGG (health-promoting bacteria) or placebo treatment. The symptom grade will detail the severity of adverse events.

Measure: Effects of BB-12+LGG at different doses on adverse events (safety)

Time: 84 days

Secondary Outcomes

Description: Psychological/Behavioral change in irritability and related maladaptive behaviors associated with ASD will be measured by the Aberrant Behavior Checklist (ABC) pre and post treatment

Measure: Effects of BB-12+LGG at different doses on irritability and maladaptive behaviors with Aberrant Behavior Checklist (ABC)

Time: Days 1, 21, 56 and 84

Description: Psychological/Behavioral change in irritability and related maladaptive behaviors associated with ASD will be measured by the and the Social Responsiveness Scale-2 (SRS-2) pre and post treatment.

Measure: Effects of BB-12+LGG at different doses on irritability and maladaptive behaviors measured with the Social Responsiveness Scale-2

Time: Days 1, 21, 56 and 84

Other Outcomes

Description: GI symptoms will be measured by the GI Severity Index.

Measure: Effects of BB-12+LGG at different doses on GI symptoms as measured by GI Symptom Severity Index

Time: Days 1, 21, 56 and 84

Description: Plasma S100A9 will indicate GI and systemic levels of inflammation. S100A9 is a damage-associated molecular pattern molecule (DAMP) released by granulocytes, which is reportedly elevated 2-fold in plasma of children with ASD.

Measure: Effects of BB-12+LGG at different doses on gut inflammation (S1009A)

Time: Days 1, 56 and 84

Description: Biological change in fecal calprotectin levels. FC is a highly accurate fecal marker of inflammation.

Measure: Effects of BB-12+LGG at different doses on gut inflammation (Fecal Calprotectin)

Time: Days 1, 56 and 84

Description: Plasma zonulin, a marker for intestinal permeability ("leaky gut"), which is often associated with inflammation.

Measure: Effects of BB-12+LGG at different doses on gut inflammation (Plasma Zonulin)

Time: Days 1, 56 and 84

Description: IL-8 can be an indicator of gut inflammation; it released from the intestinal epithelial cells during inflammation.

Measure: Effects of BB-12+LGG at different doses on gut inflammation (IL-8)

Time: Days 1, 56 and 84

Description: Using 16S rDNA analysis, this will determine microbial alpha and beta diversity and distribution of the major taxa before and after probiotic treatment.

Measure: Effects of BB-12+LGG at different doses on fecal microbial community

Time: Days 1, 56 and 84

Description: This will determine levels of metabolic markers which are reported to be abnormal in autism: fecal amino acids, ammonia, short chain fatty acids (SCFA), and phenols.

Measure: Effects of BB-12+LGG at different doses on metabolites

Time: Days 1, 56 and 84

Purpose: Treatment

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 S1009A

GI symptoms will be measured by the GI Severity Index.. Effects of BB-12+LGG at different doses on gut inflammation (S1009A). --- S1009A ---



HPO Nodes


HPO:
HP:0000729: Autistic behavior
Genes 701
EZR NTRK2 LHX1 CDKL5 SH2B1 DEAF1 EEF1A2 MAGEL2 KCNA1 CLTC NDUFS4 ALG13 GRIA2 MAGEL2 NDUFAF4 POLA1 DHCR7 NSUN2 AGTR2 ZNF711 GTF2IRD1 SLC9A7 NECAP1 PHF21A FRMPD4 CNKSR2 SATB2 CNNM2 ARID1B ARX GABRG2 ST3GAL3 PGAP2 PUF60 ARVCF MBOAT7 NDUFAF3 SETD5 TBX2 STAG1 CEP85L MED13 RORA YY1 PACS1 RREB1 NAA10 DNM1 STXBP1 OCA2 CTCF STEEP1 ATP1A3 CTNNB1 SNX14 ARX AIMP1 ZIC1 PTEN SVBP AARS1 NDN BCOR GJA5 EPB41L1 AP3B2 DCX LRRK2 GJA8 DMD RAB39B PROKR2 KCNQ5 RTL1 SIM1 PODXL MECP2 CLIP2 SCN1A VPS13C ANKRD11 MAOA NF1 CAMTA1 CEP290 NUS1 MYT1L HIRA CC2D1A SPATA5 GP1BB BRSK2 SVBP ACTL6B SQSTM1 ADNP SEC24C FOXG1 MEF2C CDK8 ELN EXT2 HCN1 THOC2 MBOAT7 CLTC MEF2C SATB2 NDUFV2 NDUFAF5 TLK2 WAC CLCN4 GABRA5 GRIN2B AFF2 KMT2C SEC23B SCN9A CUX1 SON TSC1 DLG4 CHD1 GDI1 SLC1A2 PSEN1 HESX1 PTCHD1 PDE4D GABRB2 CREBBP NPAP1 TUBB3 PDE4D FRRS1L KDM5B TRRAP SCN1A NTRK2 SLC25A12 PACS2 CDK19 KMT2E VAMP2 MED13L INTS1 SCN1B RARS1 USP7 GRN TM4SF20 TANC2 NAGA CHMP2B SYNGAP1 SPECC1L MEG3 GABRA2 STS NEXMIF CHD2 NDUFB10 ACTL6B SNORD115-1 DNAJC21 MADD ZMYND11 SRY SLC35A3 SOX3 CNOT3 MAN1B1 KCNB1 NDUFA11 MKRN3-AS1 NDUFS3 TSPAN7 EEF1A2 NAA15 SLC35C1 CDH15 YWHAG SEMA3E KDM5B ALDH18A1 CACNA2D2 COX10 CACNG2 NAGA FTSJ1 MED13 RSPRY1 CDKL5 SRP54 GABRA5 SMG9 SNRPN STXBP1 HCN1 SCN2A DEAF1 MAPK8IP3 PPM1D DPYD SH2B1 ZNF81 ND2 KIF1A PUF60 CLCN4 PDE4D TAF1 EGF KMT2A TAOK1 PWRN1 SIN3A IPW POU3F3 PPP3CA ARNT2 PNKP FOXRED1 DYNC1H1 CHRNA7 MICOS13 KAT6A AP2M1 CHD8 PAK3 CAMK2A SNRPN DALRD3 KCNA2 ADSL AP1S2 SH2B1 KPTN SNRPN KDM6B ZC3H14 ZBTB20 DCPS HNMT DMXL2 NDUFB11 GABRG2 NLGN4X WDFY3 NDUFAF8 MECP2 HERC2 JAM2 MSTO1 GABRA2 TRPM3 MED23 DHCR7 KDM5C SDHB CAMK2B SYNGAP1 CREBBP DYM UBA5 OCA2 AP2M1 AP3B2 NLGN3 DDX6 AKT1 GALNT2 RAD21 NUS1 PIGV ALMS1 MED25 SYT1 TBR1 KANSL1 LINS1 SBDS WASHC4 SLC35A3 RERE RIMS2 CASK SLC6A8 FGF12 CIC DNM1 PTEN TIMMDC1 FGFR1 GABBR2 KAT8 TUSC3 BCORL1 TREM2 PIGW MAGEL2 SYNGAP1 COG5 DEAF1 ALG13 ACSL4 ND1 TET3 STS MID2 SIK1 TBC1D23 KLLN PINK1 IARS1 OTUD6B VCP SLC13A5 NDUFAF3 FOXG1 FBXW11 ALDH5A1 SLC45A1 GATAD2B PSMD12 DNAJC6 STXBP1 SLC35C1 NDUFS4 UGP2 ASXL3 PWAR1 PPP2R5D TCF4 CTCF SCN8A ASH1L CNKSR2 TSC2 PRKN IQSEC2 NOVA2 IFNG HNF1B NIPBL SMAD4 ALG11 SET NDN TCF20 USP9X MKRN3 CUX2 HECW2 DLL1 SETD2 RAI1 TCF20 TECR TBR1 CDH15 OPHN1 OCA2 PCGF2 FLCN B3GALNT2 SRP54 DYRK1A FMR1 GNB5 NONO AUTS2 MEIS2 PRODH NDUFB9 DLK1 TWNK SCN9A SNCA SLC25A1 IL1RAPL1 APC2 ASH1L ZNF423 CNTNAP2 NDN CACNA1A PIGL NTNG1 TBX1 NSD1 NDUFS8 CACNA1C MBD5 JMJD1C C12ORF4 CREBBP RSRC1 TMEM237 SHANK3 NDUFS6 TMEM231 TMEM106B POMT1 TBX1 FBXO31 NRXN1 MECP2 MAN1B1 PGAP3 TNIK TBL2 SIM1 TBX1 CSNK2B WWOX ATRX SYNJ1 HERC1 DEPDC5 METTL5 TMLHE REV3L EHMT1 STXBP1 SYNGAP1 NEXMIF MTOR FOXP1 CLIP1 RFC2 SARS1 NDUFS1 SLC9A6 TRAPPC9 SNORD116-1 POLR2A NLGN3 GRIN1 ARFGEF2 LIMK1 MED12 PIGL MYT1L SYN1 POLA1 PTCHD1 CRBN EP300 ATP6V1A ZFPM2 ARV1 EP300 NDUFA6 EP300 CDKL5 TBC1D24 HCN1 HTRA2 SZT2 SNX14 NDUFS2 PIGO ND3 MCTP2 BPTF SIN3A NEUROD2 SNRPN SYP WFS1 ZMIZ1 ZNF41 PRSS12 PIGP STEEP1 CACNA1B C9ORF72 TMEM216 TAF1 DOCK7 PRDM16 EDC3 UBE3A RPS23 ACTL6A NDUFS7 MED12 SCN1A NDUFA1 CLCN4 PSMD12 NUBPL PCDH19 SLC6A8 EXT2 FBXW11 FOXP2 USP27X IQSEC2 UBTF PPP2CA PARK7 GRIN1 NDUFB3 TSC2 SYNJ1 CHAMP1 GRIN2D LSS USF3 CHD2 GRIK2 SNRPN RERE NDP OTX2 TCF4 NDST1 MAPT PLXND1 TANC2 SIM1 GABRA1 SKI NLGN1 WAC PIK3CA DPYD POGZ NFIB UBE3A ZMIZ1 WFS1 HDAC4 TSC1 SDHC SETD1B IREB2 DOCK8 RPL10 WDR26 CNTNAP2 MYT1L GABRD PCDH19 SCN2A PPP3CA NDUFAF2 EHMT1 NDUFA13 TRIM8 DMPK RAB11B DOCK3 EHMT1 ANK3 DYRK1A GABRB3 UFD1 NDUFV1 CLP1 HNRNPH2 GTF2I MAGEL2 MECP2 SCN2A STAG2 SHANK3 FMR1 KDM3B GNAQ KMT5B CYFIP2 KCNA2 LMAN2L MED13L TMEM126B NHS FRMPD4 KANSL1 NR2F1 TRAK1 PIGC MAPK10 PIGP UBA5 SETD5 CUX2 CHD2 MED12L SCN1B CARS2 DYRK1A CDKL5 PARS2 PIGY TMEM138 CHD7 SCN8A STXBP1 RNF135 UPF3B SMC1A CDH2 NDN KIRREL3 NDUFAF4 SETD2 SOX2 NALCN GPHN DHDDS OTUD6B METTL23 BCKDK HCFC1 CREBBP SMC3 HIVEP2 ADNP IQSEC1 RAB11A ST3GAL3 SCN1B PGAP1 TRMT1 HIVEP2 SNRPN FTSJ1 RERE PIGG RSPRY1 TBCK SLC25A22 STX1B HDAC8 NEUROD2 HERC2 ZNF462 TCF4 GFM1 ALG13 DLG3 GFM2 EFL1 EP300 C12ORF4 MAGEL2 GABRD FMN2 CC2D2A MAP1B TCF12 IQSEC2 KMT2C DDX3X NLGN4X ADGRV1 MFF MED12L SCN3A SDHD AHDC1 MECP2 GNAO1 BCORL1 NTNG2 KCNT1 BAZ1B TRAPPC4 EXTL3 GAMT COMT CRADD NDUFAF1 USP7 GRIA3 GRIN1 MEIS2 NTNG1 GABRG2 ARHGEF6 GATM ACOX1 AGTPBP1 KCNAB2 SLC6A1 RPS6KA3 PRKAR1A AUTS2 RLIM TRIO PAH UCHL1 PIGQ IL1RAPL1 GRIA3 OCA2 NAA10
Protein Mutations 1
S1009A
SNP 1
rs6971