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 NCT00887562

Developed by Shray Alag, 2020-2021.
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 521
ACSF3 SLC25A26 PDHX TRNK PET100 NDUFB11 ND6 NDUFS4 SOD1 TRNL1 COX20 AIFM1 ACADS TRNK NDUFAF4 WARS2 EPG5 TRNC KCNJ5 SCNN1G PUS1 SLC25A4 NDUFAF3 RRM2B TRNS2 ND1 MRPS34 ACSF3 TRNP PDSS2 NDUFA2 CACNA1S ND1 MYO5B SCNN1B HADHA GALT POLG PNPT1 DNM1L SYNJ1 MPV17 PRDX1 NDUFA6 TPK1 TAZ SDHA WNK4 TRNT SLC25A4 NFU1 TKFC GFM2 FDX2 COX1 PNPO SCO2 PMPCA POLG2 MCCC2 POLG TWNK SLC37A4 PDHB HLCS PET100 NDUFV2 NDUFAF5 DLD INS SURF1 TRMU ND4 POLG SERAC1 MLYCD MDH2 MCEE SLC3A1 PC PLPBP TK2 TARS2 PCK1 TRNW FBP1 SLC7A7 HPDL TRNL1 BCS1L MRPS22 TRNF PCCA ISCA1 PLAGL1 GK HSD17B10 TRNW NDUFB8 RRM2B SLC25A19 MTO1 ATP5F1D PHKG2 NDUFAF6 HPD RARS1 WNK1 TRNV RMND1 NDUFAF6 FAH TRNL1 HNF4A SDHA NDUFB10 TRMU AIFM1 OCRL SLC25A4 NDUFA11 NDUFS3 ALDOB ACADVL DPYS C12ORF65 PDSS1 MRPL3 SLC25A10 COX10 HMGCL COX15 NDUFA12 TRNS1 NGLY1 TRNH SLC4A4 COX1 AGXT SDHA NADK2 ALDOB SCO2 ND2 ND5 PDP1 RYR1 NDUFS7 BTD GCDH ND1 OGDH ATP6V1B1 ND4 HTRA2 CPT1A TKFC FOXRED1 MICOS13 ACAT1 TRNF INSR GTPBP3 AUH IL6 UQCRFS1 TRNQ GATM MECP2 AGXT TRNN SLC19A3 DLAT TRNS1 GATA3 SCO1 INS MRPS28 LDHA NEUROG3 GK NDUFB11 COQ9 SUCLA2 TIMM22 COA6 NDUFAF8 KYNU ATPAF2 ND3 ACAD9 TRNK ISCU PDHA1 CYTB FBXL4 TRMT10C LARS1 MMACHC HADHB NDUFS2 NDUFS1 PDP1 MMAA TRNK MRPS14 FARS2 TRNF BCKDHB TUFM ECHS1 NDUFV1 HMGCL SLC4A1 CYP11A1 NDUFS2 FN1 CYP11A1 TRNS2 RNASEH1 TIMMDC1 NDUFA13 PPM1B HNF4A ZFP57 ETHE1 NDUFA4 CARS2 ND1 DLD MARS1 ETHE1 SCNN1B TYMP MPC1 EARS2 NDUFAF3 UQCRC2 DBT ECHS1 COX8A HS6ST2 DGUOK NDUFB9 CUL3 EPG5 ATP5F1E NDUFS4 SLC25A3 TACO1 SHOX GLYCTK CLDN16 POLG2 SCNN1A NDUFS3 LIPT1 FASTKD2 PMPCB TRNI TRNL1 MRPS16 SLC37A4 PNPLA8 ATAD3A TXN2 SLC16A1 PLVAP GYS2 INVS NDUFA11 TRNE TSFM INSR LYRM7 NDUFB9 ADAMTS13 NDUFA10 ND2 PPA2 ACAT2 LYRM4 POLG LCT YARS2 NDUFS8 NDUFB8 NDUFS7 NDUFS6 NDUFS6 MTFMT ETFDH COQ4 SCO2 NDUFS8 DNM1L SDHD BCS1L CTNS NDUFAF5 TIMM50 NR3C2 NDUFS1 PTPN22 CAD TRNW FH NDUFAF5 PYGL RRM2B PDHX UQCC3 NDUFA10 ITGA3 CAMKMT HPD SDHAF1 MCCC1 OXCT1 GTPBP3 TWNK PDHA1 COQ2 TRNT DARS2 SURF1 NDUFAF1 TWNK NDUFA6 TIMM50 TANGO2 GATC POLG ND6 NDUFS2 ND3 SLC25A19 PAX4 MRPL12 MMACHC FOXRED1 NDUFA9 NDUFS3 KCNJ11 NDUFV1 TRNS1 RYR1 FOXRED1 NDUFAF6 SLC4A1 GATB SCNN1G TRNQ PNPO HYMAI GSS TRNS1 NDUFS7 MRPL44 TK2 NDUFA1 NUBPL COX2 COQ2 NDUFA2 TYMP NDUFB3 COX3 RARS2 LONP1 TMEM126B AGK HADH NDUFV2 SUCLG1 FBP1 ACAD9 ITPR3 POLG KYNU SLC12A3 EHHADH NDUFAF3 NDUFAF2 PUS1 TRNW ETFB MTFMT SLC25A4 SLC5A1 CLCNKB ACAT1 IBA57 SLC25A13 SURF1 GOT2 SLC2A2 LRPPRC PHKG2 LIPT2 YARS2 HNF1A NAXE PDHA1 PDHB TRMT5 NDUFAF2 NDUFA13 COQ8A USP18 CHCHD10 SURF1 VPS33B NDUFS1 NDUFA1 C1QBP NDUFV1 HNF1B NOTCH2 G6PC1 WARS2 DGUOK KLHL3 TWNK ATP6V0A4 POLG2 MMAB TMEM126B LIPT1 EIF2AK3 TRNV KCNJ11 CLPB NDUFB10 TWNK DNAJC19 UQCC2 COX14 COQ8A COX2 NDUFS2 BCKDHA WDR35 CARS2 HIBCH ELAC2 PHKA2 CPT1A TMEM70 PCCB NDUFAF4 LARS2 OCRL ND5 ATAD3A AARS2 TRNT1 QRSL1 NDUFA9 NEUROG3 MMUT HSD17B10 CYC1 TRNL2 POLG TRNL1 BCS1L TRNN MRPS7 CTNS JAG1 COX4I1 SLC25A3 NDUFV2 ND5 HSD17B10 GFM1 GFM2 CA5A COX6B1 CA2 PREPL ND6 IVD ACADM BOLA3 ALDH6A1 VIPAS39 NDUFS4 STX3 NARS2 AGK LIAS SFXN4 NDUFAF8 SCNN1A UQCRB HSD3B2 ABCC8 CYP11B2 UQCRQ TXN2 NDUFAF1 SLC25A42 TANGO2 MIPEP NDUFB3 SLC52A1 COX3 CPT2 ATP6 GFER COA8 ETFA MRM2 PDSS2 CTNS IVD CYTB BTD CHCHD10
Protein Mutations 0
SNP 0
HP:0001298: Encephalopathy
Genes 363
GABRB1 CDKL5 ACSF3 ATAD3A DPM2 NAGS EEF1A2 TCF4 ND6 NDUFS4 GALC TRNL1 TREX1 TRNK NDUFAF4 AMT TRNC NECAP1 NDUFA11 TSFM LYRM7 NDUFB9 CNKSR2 D2HGDH TWNK SLC25A1 GABRG2 NECAP1 STAG1 TRNS2 ATP5F1A ITPA ARHGEF9 UGDH CNTNAP2 GABRA1 CACNA1A SLC2A1 MDH1 NBAS AARS1 NDUFS8 GCSH DNM1 STXBP1 AMACR GBA ND1 ATP1A3 NDUFAF2 CPT2 TCF4 NDUFS6 NDUFS6 GABRG2 NRXN1 SLC19A3 KCNT2 ACY1 PNPT1 SYNJ1 CPT2 CPLX1 COQ4 ARHGEF9 AARS1 ADAM22 AP3B2 WWOX GABRB3 DCX SYNJ1 DNM1L NDUFA6 GLDC TIMM50 NDUFS1 SLC13A5 CAD ROGDI NUS1 GRIN1 KCNQ2 NOTCH3 PAFAH1B1 NDUFAF1 COX1 PNPO ATP6V1A MEF2C NADK2 BSCL2 GABBR2 ARV1 HCN1 NDUFA6 TH PIGA ATP5F1A MTHFR CLTC SZT2 ND6 NDUFS2 NDUFV2 NDUFAF5 DLD SIK1 ND3 GABRA5 MST1 MECP2 SLC25A20 GPT2 SERAC1 TK2 MDH2 ACOX1 NDUFS3 FBLN1 SLC1A2 RANBP2 GABRB2 KCNQ5 CACNA1B PCK1 TRNQ PNPO TRNW RNF13 NDUFS7 BCS1L DNM1 NDUFA1 SCN3A COG8 PCCA NUBPL COX15 KMT2E PTPN23 TRIT1 SCN1A COX2 NTRK2 HNRNPU SLC25A12 PACS2 SERPINI1 COQ2 CDK19 TRNW TRAK1 ATP5F1D PLCB1 NDUFB3 COX3 GRIN2D COG8 HADH SUCLG1 COQ5 ACAD9 SYNGAP1 CHD2 CHD2 DENND5A RNASEH2B EEF1A2 NDUFB10 ACTL6B FADD KYNU SH2D1A RNF13 SLC12A3 KCNB1 CYFIP2 NDUFA11 NDUFS3 KCNA2 RINT1 YWHAG UNC80 CACNA2D2 TSEN54 SLC35A2 NTRK2 SLC19A3 TBC1D24 SLC25A13 CLCNKB TRNS1 IBA57 CNPY3 TRNH TBCE COX1 PARS2 SLC22A5 NADK2 LIPT2 NAXE GABRB2 PNKP DOCK7 ND2 PPP3CA NDUFAF2 CLCN4 NRXN1 WDR45 PHACTR1 NDUFS7 PSAP GABRB3 GCDH NDUFV1 TBC1D24 CLP1 ND1 GLUL TBCK ND4 GLS CPT1A FOXRED1 STAT2 DGUOK AP2M1 TRNF CACNA1E SCN2A CCDC88A DALRD3 CYFIP2 KCNA2 FADD TMEM126B WWOX KCNA2 TRNV CLPB TRNQ TRAK1 ARV1 RNASEH2C MAPK10 PIGP UBA5 HTRA1 TRNS1 TRAPPC12 COX2 SLC25A15 CUX2 CHD2 GRIN2B SLC25A15 BSCL2 NDUFB11 COQ9 CARS2 PARS2 HIBCH KCNQ2 GRIN2D SUCLA2 SCN8A CACNA1A NDUFAF8 KYNU TMEM70 PCCB NDUFAF4 SLC25A22 SCN1A ACAD9 SPTAN1 TRNK CYTB GABRA2 ND5 DHDDS ACY1 TGFB1 FBXL4 MMACHC HSD17B10 SLC22A5 CYC1 SLC35A1 SYNGAP1 SIK1 GBA SLC1A2 FCSK HADH TRNL1 UBA5 SZT2 ST3GAL3 SCN1B AP3B2 GUF1 TRNF NUS1 ALMS1 NEUROD2 TUFM NDUFV2 ND5 GNAO1 HMGCL PPP3CA STXBP1 FRRS1L FGF12 BOLA3 TRNS2 DNM1 PRNP TIMMDC1 ETHE1 CARS2 ND1 DLD SLC6A9 ETHE1 LIAS SCN3A NAXD MPC1 ZNHIT3 UGT1A1 TBCD SLC13A5 ATAD1 NDUFAF3 KCNB1 ALG9 GPR35 KCNT1 SCN2A ARX DHDDS CACNA1B NDUFS4 NDUFAF1 RANBP2 NDUFB3 COX3 SCN8A HCN1 ASNS ATP6V1A TBCE GLYCTK SLC6A1 XIAP PMPCB CUX2 FGF12
Protein Mutations 1
A3243G
SNP 0