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 NCT00887562

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

A Phase IIa Double-Blind, Randomized, Placebo-Controlled, Dose-Finding Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-like Episodes

The purpose of this study is to compare the efficacy of two (2) different doses of idebenone with that of a placebo over a one month period on cerebral lactate concentration as measured by magnetic resonance spectroscopy.

NCT00887562 MELAS Syndrome
MeSH:MELAS Syndrome Brain Diseases Acidosis Acidosis, Lactic
HPO:Acidosis Encephalopathy Lactic acidosis Metabolic acidosis

3 Interventions

Name: Idebenone

Description: 900 mg/day for 1 month
Type: Drug
Group Labels: 1

Idebenone 900 mg/day

Name: Idebenone

Description: 2250 mg/day for 1 month
Type: Drug
Group Labels: 1

Idebenone 2250 mg/day

Name: Placebo

Description: Placebo - No idebenone
Type: Other
Group Labels: 1

placebo


Primary Outcomes

Description: To compare the efficacy of 1 month treatment with 2 different doses of idebenone with that of placebo on cerebral lactate concentration as measured by magnetic resonance spectroscopy (MRS)

Measure: Mean Change in Cerebral Lactate Concentration (as Measured by Magnetic Resonance Spectroscopy)

Time: Up to 4 weeks from baseline

Secondary Outcomes

Description: To compare the efficacy of 1 month treatment with 2 different doses of idebenone with that of placebo on venous lactate concentration

Measure: Mean Change in Venous Lactate Concentration

Time: Up to 4 weeks from baseline

Description: To assess changes following 1 month treatment with 2 different doses of idebenone with that of placebo in fatigue as assessed by the Fatigue Severity Scale (FSS). Scale score minimum is 9 (least fatigue) and maximum is 63 (maximum fatigue). Scores of 36 or less indicate possibility that patient may not be suffering from fatigue, while scores 36 and over suggest suffering from fatigue

Measure: Mean Change in Score on the Fatigue Severity Scale (FSS)

Time: Baseline and Week 4

Purpose: Treatment

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 A3243G

Inclusion Criteria: - Diagnosis of MELAS with confirmed A3243G mtDNA mutation, or evidence of central nervous system involvement (cognitive problems, migraines, memory loss) - Cerebral lactate level equal to or greater than 5.0 i.u. at baseline - Patients at least 8 and < 65 years of age at baseline - Patients with a body weight > 37 kg/82 lbs at baseline - Stable co-medication/vitamins/supplements within 1 month prior to baseline - Patients who in the opinion of the investigator are able to comply with the requirements of the study, including swallowing the study medication - Negative urine pregnancy test at screening and baseline (female patients of childbearing potential) Exclusion Criteria: - Contraindication to MRS (e.g. --- A3243G ---

metal implant, claustrophobia) - Stroke like event within 2 months prior to baseline - Treatment with idebenone at any dose, or coenzyme Q10 at doses above 100mg/d within 1 month prior to baseline - Inadequate contraception use - Pregnancy and/or breast-feeding - Clinically significant abnormalities of clinical hematology or biochemistry including, but not limited to, elevations greater than 1.5 times the upper limit of normal of aspartate aminotransferase (AST), alanine aminotransferase (ALT) or creatinine - Current abuse of drugs or alcohol - Participation in a trial of another investigational drug within the last month - Other factor that, in the investigator's opinion, excludes the patient from entering the study Inclusion Criteria: - Diagnosis of MELAS with confirmed A3243G mtDNA mutation, or evidence of central nervous system involvement (cognitive problems, migraines, memory loss) - Cerebral lactate level equal to or greater than 5.0 i.u. at baseline - Patients at least 8 and < 65 years of age at baseline - Patients with a body weight > 37 kg/82 lbs at baseline - Stable co-medication/vitamins/supplements within 1 month prior to baseline - Patients who in the opinion of the investigator are able to comply with the requirements of the study, including swallowing the study medication - Negative urine pregnancy test at screening and baseline (female patients of childbearing potential) Exclusion Criteria: - Contraindication to MRS (e.g. --- A3243G ---

Given that there is no effective treatment for MELAS, the investigators propose a Phase II proof of concept trial of idebenone to study its preliminary efficacy in patients with MELAS and the A3243G mtDNA mutation, and to study its safety and tolerability in this patient group. --- A3243G ---

The investigators propose to evaluate 21 patients with the A3243G mitochondrial DNA mutation and MELAS (defined by a history of either seizures or stroke). --- A3243G ---



HPO Nodes


HPO:
HP:0001941: Acidosis
Genes 514
IVD ND4 TRNT NDUFA10 CA2 TRNL1 GYS2 MMUT NDUFS6 TXN2 ACADM PUS1 UQCRQ COX10 POLG C12ORF65 USP18 PAX4 YARS2 AGK NDUFA2 COX15 TYMP TIMM50 NOTCH2 MCCC2 SLC37A4 NDUFS1 SLC25A19 FOXRED1 AGXT RYR1 SLC5A1 ELAC2 PNPT1 ATP6V1B1 COX3 CYTB MTO1 FBXL4 ATP5F1D TUFM AUH BTD WARS2 OCRL TRNL1 TRNT1 NDUFS6 SCNN1B KLHL3 SLC25A4 COX2 PMPCA EIF2AK3 BTD PLPBP MCCC1 GCDH CACNA1S UQCRB ITPR3 NDUFA1 NDUFA11 PMPCB G6PC NDUFAF4 MECP2 DLD STX3 ATP6 TWNK PET100 PUS1 GTPBP3 SLC25A4 PREPL COQ2 CHCHD10 EPG5 BCS1L HIBCH TRNH FBP1 TRNP UQCRC2 IL6 HADHB MMAA SUCLA2 SCO1 TWNK NDUFV2 SCNN1A EPG5 TSFM ISCU GFM1 DPYS MIPEP NDUFAF5 ND1 HPD SDHD ECHS1 TRNI ND6 GATB SLC16A1 UQCRFS1 TRMT10C NDUFV1 GATA3 CPT1A HNF4A TRNE COA6 POLG TWNK NDUFAF3 SLC2A2 NDUFS4 MPV17 CARS2 COX14 WNK1 HPD INSR NDUFA13 LIPT1 CYTB FH ATAD3A TRNS2 TK2 TRNS1 RNASEH1 COQ2 HLCS INVS SLC25A3 PDHA1 SDHA RARS2 MRPL44 SURF1 PLAGL1 JAG1 ND3 TACO1 ND1 TRNK ZFP57 GFM2 TARS2 PDSS2 ATP5F1E RRM2B CLDN16 ND4 TMEM126B POLG SLC25A26 ACADS ND5 NDUFAF1 NDUFA9 ATPAF2 DBT NDUFS7 COX6B1 ATP6V0A4 SCNN1A ETFDH OCRL COX1 SERAC1 NDUFA1 ETFA ND6 SLC25A19 PRDX1 CYC1 TRNV SFXN4 CTNS NDUFA6 CUL3 NARS2 SLC3A1 DGUOK MMACHC TIMMDC1 NDUFA10 BCS1L INS TRNK TRNK NDUFS7 TWNK ADAMTS13 SLC25A42 LCT SURF1 LYRM7 SURF1 TRNW BCKDHB RRM2B KCNJ5 TAZ WARS2 COQ8A TK2 HYMAI MTFMT GTPBP3 NDUFS3 HMGCL NDUFA11 HSD17B10 NDUFAF3 TRNF NEUROG3 SLC4A1 HTRA2 NDUFB11 TIMM22 PDSS2 KYNU NDUFA12 ALDH6A1 HNF1B ABCC8 FN1 VIPAS39 NDUFA9 TRMU ND2 TYMP MARS1 NAXE HADHA NR3C2 NDUFA4 SCNN1G POLG ACADVL NUBPL POLG GSS NEUROG3 GFM2 CYP11B2 NDUFV2 TRNL1 AIFM1 LDHA COX1 BOLA3 NDUFA6 SLC25A4 SURF1 C1QBP COX15 CLPB NDUFA2 NDUFAF8 ND3 SOD1 VPS33B TRMT5 TRMU HSD3B2 TRNN PNPO AIFM1 MRPL3 UQCC2 PCCA ACAT1 SHOX NDUFB3 COA3 SCNN1G NDUFAF6 SDHA DNM1L MRPS34 NDUFB8 ACAT1 MRPS7 SLC4A1 SLC25A10 GATM NDUFV1 SCO2 NDUFS1 NDUFS7 INS CYP11A1 MTFMT ALDOB NDUFS2 NFU1 PDSS1 GK NDUFS8 LARS1 AGXT DLAT NDUFS2 COX20 SLC25A4 TIMM50 LRPPRC PYGL RMND1 PPM1B AGK CYP11A1 ETFB TRNQ TRNQ RRM2B CA5A SYNJ1 LIAS MRPS16 TMEM70 HNF1A ND1 KCNJ11 NDUFAF6 PNPO FASTKD2 TANGO2 MRPS28 NDUFS3 TRNS1 TRNF MLYCD NDUFAF2 MRPS22 ACSF3 CPT2 TKFC ETHE1 SCO2 TXN2 PDHA1 SLC25A13 PNPLA8 SLC7A7 DARS2 PDP1 FAH TRNL2 NDUFS8 NDUFAF4 FOXRED1 COX3 DGUOK NDUFAF5 QRSL1 FARS2 SCO2 NDUFB10 ND1 ECHS1 NDUFS4 NDUFS4 COQ9 COX8A MMAB DNAJC19 POLG2 ACAD9 SLC12A3 SLC25A3 CPT1A NDUFB9 NDUFAF6 PHKG2 POLG2 NDUFB8 SDHA PLVAP NDUFS3 TRNW NDUFV1 CARS2 COA8 ND5 FBP1 FOXRED1 TRNS2 PDHX SUCLG1 CAD POLG2 CLCNKB OGDH TRNL1 KYNU RYR1 NDUFB11 COX10 COX2 TKFC TWNK WDR35 NDUFS1 LYRM4 HNF4A NDUFS2 GFER SLC19A3 TRNV ACAD9 WNK4 NDUFV2 UQCC3 MPC1 NDUFB3 PPA2 NDUFAF8 TRNF PHKA2 HS6ST2 MRPS14 TRNS1 SLC4A4 MRPL12 BCS1L HADH SDHAF1 PHKG2 NDUFS2 MDH2 LARS2 SLC37A4 NDUFAF5 NGLY1 LIPT2 OXCT1 CTNS ATAD3A EARS2 TACO1 BCKDHA PET100 TMEM126B FDX2 POLG ISCA1 PDHB KCNJ11 ETHE1 TRNN TRNW TRNW GLYCTK MRM2 TRNC TRNL1 NDUFAF3 IBA57 TRNK YARS2 AARS2 ND6 MYO5B ACSF3 EHHADH INSR CAMKMT ND2 POLG IVD NDUFA13 PCCB NDUFAF2 PC PTPN22 TRNT DNM1L BCS1L NDUFAF1 LIPT1 NADK2 ND5 TANGO2 MICOS13 COQ8A SCNN1B SLC52A1 RARS1 MCEE ACAT2 NDUFB9 GOT2 DLD GATC HMGCL COA8 ALDOB PCK1 GALT COQ4 CHCHD10 ITGA3 TRNS1 TPK1
Protein Mutations 0
SNP 0
HP:0001298: Encephalopathy
Genes 361
SCN3A CACNA1B AP2M1 TBC1D24 KCNA2 ARX PNPO TRNL1 NDUFS6 SCN1B NRXN1 DPM2 CNPY3 RNASEH2C PCCA TRIT1 SCN8A SPTAN1 NDUFB3 EEF1A2 GRIN1 DNM1L ACTL6B PRNP KMT2E KCNA2 TIMM50 PARS2 NRXN1 CDK19 PTPN23 GABRG2 NDUFV1 CHD2 SYNJ1 GBA ATP1A3 SLC35A2 PIGA NDUFS7 FBLN1 TBCE NUS1 PNPT1 RINT1 CPLX1 ZNHIT3 WWOX COX3 CYTB FBXL4 ATP5F1D TUFM SYNGAP1 PPP3CA SCN1A SERPINI1 GPR35 NDUFS2 D2HGDH SIK1 TBCE SLC25A1 FRRS1L FADD NDUFS6 DOCK7 TRNQ TRNQ FCSK SYNJ1 LIAS COX2 RANBP2 SLC25A20 AP3B2 ATAD1 GLS CACNA1A TMEM70 NECAP1 ND1 GCDH SYNGAP1 PNPO GABRB2 FGF12 ATP5F1A GRIN2D NDUFS3 NDUFA1 NDUFA11 PMPCB TRNF NDUFAF2 NDUFAF4 SLC2A1 GABRA2 TCF4 SLC13A5 DLD ACSF3 TRAK1 EEF1A2 NAGS ETHE1 CLCN4 TRAK1 AMACR SCN3A PARS2 HIBCH TRNH PHACTR1 SUCLA2 NDUFS8 NDUFAF4 GNAO1 NDUFV2 FOXRED1 NEUROD2 AMT SLC22A5 XIAP ACOX1 TSFM CUX2 COX3 CYFIP2 RNF13 GPT2 ST3GAL3 DGUOK CACNA1B ND1 CPT2 NDUFB10 ND1 GABBR2 NDUFS4 UBA5 NAXD HCN1 COQ9 NTRK2 GUF1 SLC19A3 ACY1 TBCD SCN2A ACAD9 SLC12A3 UGT1A1 CPT1A SZT2 ADAM22 SLC13A5 CLP1 NDUFAF3 GABRB1 NDUFS4 NDUFS3 GABRB3 TRNW CARS2 PSAP GABRA5 KCNQ2 CARS2 NBAS AARS1 TRNS2 SLC19A3 DCX SUCLG1 CAD CLCNKB ATAD3A TRNS2 TRNS1 SLC35A1 HADH KYNU COQ2 NOTCH3 COX2 CPT2 TREX1 ROGDI TK2 MECP2 NDUFAF2 ND3 TRNK DHDDS GABRB3 NDUFS1 SH2D1A GALC GBA NADK2 DNM1 TRNV ACAD9 UNC80 NDUFV2 ND4 CDKL5 TMEM126B BSCL2 ACY1 WWOX MPC1 ND5 NDUFB3 ARHGEF9 ARHGEF9 NDUFAF1 CACNA1A PACS2 SLC6A1 NDUFS7 KCNB1 SLC25A15 FADD CCDC88A GRIN2D NUS1 KCNA2 SCN8A NDUFAF8 SLC25A15 DNM1 FGF12 CYFIP2 COX1 SERAC1 UBA5 DALRD3 SCN1A DENND5A YWHAG ND6 PAFAH1B1 COG8 STAG1 MST1 CYC1 HADH MAPK10 SIK1 BSCL2 NDUFA6 ATP6V1A DHDDS CNKSR2 RNASEH2B GABRB2 MDH2 ALMS1 TIMMDC1 UGDH BCS1L NDUFAF5 LIPT2 TWNK PLCB1 TRNK RANBP2 GABRG2 COX15 SZT2 HTRA1 CUX2 CHD2 GLUL PNKP COG8 CACNA2D2 KCNQ2 LYRM7 ARV1 ASNS ETHE1 STXBP1 SLC25A22 CNTNAP2 SLC6A9 ARV1 TRNW GLYCTK TH TRNC CACNA1E SLC1A2 IBA57 CLTC PIGP TBCK ND6 WDR45 STAT2 HMGCL HNRNPU KCNQ5 KCNT1 GLDC NDUFA11 SLC25A13 MEF2C SLC25A12 SLC25A22 AP3B2 TCF4 NTRK2 TRNF KCNB1 PCCB NDUFB11 GCSH KYNU NDUFAF1 DNM1 ND2 NADK2 ND5 NAXE GRIN2B ATP6V1A ATP5F1A SLC1A2 HCN1 NUBPL ALG9 SCN2A NDUFB9 KCNT2 TSEN54 MTHFR AARS1 DLD GABRA1 TRNL1 TRAPPC12 NECAP1 PCK1 COX1 TGFB1 TBC1D24 BOLA3 NDUFA6 COQ4 STXBP1 CHD2 ITPA CLPB TRNS1 RNF13 SLC22A5 MDH1 PPP3CA
Protein Mutations 1
A3243G
SNP 0