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 NCT00747487

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

A Double-Blind, Randomised, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Patients With Leber's Hereditary Optic Neuropathy

This study is meant to assess the effectiveness of idebenone on visual function measures in patients with Leber's Hereditary Optic Neuropathy over a 6 months period.

NCT00747487 Leber's Hereditary Optic Neuropathy
MeSH:Peripheral Nervous System Diseases Optic Nerve Diseases Optic Atrophy, Hereditary, Leber
HPO:Abnormal peripheral nervous system morphology Leber optic atrophy Peripheral neuropathy Polyneuropathy

2 Interventions

Name: Idebenone

Description: Idebenone 900 mg/day
Type: Drug
Group Labels: 1

1

Name: Placebo

Description: Placebo
Type: Drug
Group Labels: 1

2


Primary Outcomes

Measure: Best recovery of logMAR visual acuity between baseline and Week 24 in either right or left eye

Time: 24 weeks

Secondary Outcomes

Measure: Change in the patient's best logMAR visual acuity between baseline and week 24

Time: 24 weeks

Measure: Change in scotoma area in both eyes

Time: Day -1, Week 4, Week 12, Week 24

Measure: Change in optic nerve fibre layer thickness in both eyes

Time: Day -1, Week 4, Week 12, Week 24

Measure: Colour contrast sensitivity in both eyes (in a subset of patients)

Time: Day -1, Week 4, Week 12, Week 24

Measure: logMAR visual acuity as a continuous variable in both eyes

Time: Screening, Day -1, Week 4, Week 12, Week 24, Week 28

Measure: Clinical Global Impression of Change

Time: Week 4, Week 12 and Week 24

Measure: Change in Health-Related Quality of Life (HRQOL)

Time: Day -1, Week 4, Week 12, Week 24

Measure: Change in self-reported general energy levels

Time: Day -1, Week 4, Week 12, Week 24, Week 28

Measure: Proportion of patients in which visual acuity in the initially least affected eye does not deteriorate to 1.0 log MAR or more ( in LHON patients with eye still less affected than 0.5 logMAR at trial entry)

Time: 24 weeks

Measure: Plasma levels of idebenone matched to measures of efficacy and safety

Time: 24 weeks

Measure: • Best visual acuity at Week 24 (best eye at Week 24) compared to best visual acuity at Baseline (best eye at Baseline)

Time: 24 weeks

Measure: • Count of eyes/ patients for which the visual acuity improves between baseline and week 24

Time: 24 weeks

Purpose: Treatment

Allocation: Randomized

Parallel Assignment


There are 3 SNPs

SNPs


1 G11778A

Inclusion Criteria: - Age > or = 14 years and < 65 years - Impaired visual acuity in at least one eye due to LHON - Onset of visual loss due to LHON lies five years or less prior to Baseline - Confirmation of either G11778A, T14484C or G3460A LHON mtDNA mutations at >60% in blood - No explanation for the visual failure besides LHON - Body weight ≥ 45 kg - Negative urine pregnancy test at Screening and at Baseline (women of childbearing potential). --- G11778A ---

Exclusion Criteria: - Treatment with Coenzyme Q10 or idebenone within 1 month prior to Baseline - Pregnancy and/or breast-feeding - Weekly alcohol intake 35 units (men) or 24 units (women) - Current drug abuse - Clinically significant abnormalities of clinical haematology or biochemistry including, but not limited to, elevations greater than 2 times the upper limit of normal of AST, ALT or creatinine - Participation in another clinical trial of any investigational drug within 3 months prior to Baseline - Other factor that, in the investigator's opinion, excludes the patient from entering the study Inclusion Criteria: - Age > or = 14 years and < 65 years - Impaired visual acuity in at least one eye due to LHON - Onset of visual loss due to LHON lies five years or less prior to Baseline - Confirmation of either G11778A, T14484C or G3460A LHON mtDNA mutations at >60% in blood - No explanation for the visual failure besides LHON - Body weight ≥ 45 kg - Negative urine pregnancy test at Screening and at Baseline (women of childbearing potential). --- G11778A ---


2 G3460A

Inclusion Criteria: - Age > or = 14 years and < 65 years - Impaired visual acuity in at least one eye due to LHON - Onset of visual loss due to LHON lies five years or less prior to Baseline - Confirmation of either G11778A, T14484C or G3460A LHON mtDNA mutations at >60% in blood - No explanation for the visual failure besides LHON - Body weight ≥ 45 kg - Negative urine pregnancy test at Screening and at Baseline (women of childbearing potential). --- G11778A --- --- T14484C --- --- G3460A ---

Exclusion Criteria: - Treatment with Coenzyme Q10 or idebenone within 1 month prior to Baseline - Pregnancy and/or breast-feeding - Weekly alcohol intake 35 units (men) or 24 units (women) - Current drug abuse - Clinically significant abnormalities of clinical haematology or biochemistry including, but not limited to, elevations greater than 2 times the upper limit of normal of AST, ALT or creatinine - Participation in another clinical trial of any investigational drug within 3 months prior to Baseline - Other factor that, in the investigator's opinion, excludes the patient from entering the study Inclusion Criteria: - Age > or = 14 years and < 65 years - Impaired visual acuity in at least one eye due to LHON - Onset of visual loss due to LHON lies five years or less prior to Baseline - Confirmation of either G11778A, T14484C or G3460A LHON mtDNA mutations at >60% in blood - No explanation for the visual failure besides LHON - Body weight ≥ 45 kg - Negative urine pregnancy test at Screening and at Baseline (women of childbearing potential). --- G11778A --- --- T14484C --- --- G3460A ---


3 T14484C

Inclusion Criteria: - Age > or = 14 years and < 65 years - Impaired visual acuity in at least one eye due to LHON - Onset of visual loss due to LHON lies five years or less prior to Baseline - Confirmation of either G11778A, T14484C or G3460A LHON mtDNA mutations at >60% in blood - No explanation for the visual failure besides LHON - Body weight ≥ 45 kg - Negative urine pregnancy test at Screening and at Baseline (women of childbearing potential). --- G11778A --- --- T14484C ---

Exclusion Criteria: - Treatment with Coenzyme Q10 or idebenone within 1 month prior to Baseline - Pregnancy and/or breast-feeding - Weekly alcohol intake 35 units (men) or 24 units (women) - Current drug abuse - Clinically significant abnormalities of clinical haematology or biochemistry including, but not limited to, elevations greater than 2 times the upper limit of normal of AST, ALT or creatinine - Participation in another clinical trial of any investigational drug within 3 months prior to Baseline - Other factor that, in the investigator's opinion, excludes the patient from entering the study Inclusion Criteria: - Age > or = 14 years and < 65 years - Impaired visual acuity in at least one eye due to LHON - Onset of visual loss due to LHON lies five years or less prior to Baseline - Confirmation of either G11778A, T14484C or G3460A LHON mtDNA mutations at >60% in blood - No explanation for the visual failure besides LHON - Body weight ≥ 45 kg - Negative urine pregnancy test at Screening and at Baseline (women of childbearing potential). --- G11778A --- --- T14484C ---



HPO Nodes


HPO:
HP:0000759: Abnormal peripheral nervous system morphology
Genes 1422
ATP7A OPA3 EXT1 SPG11 SNX10 ND4 NDUFA10 VCP PEX5 MYD88 TXN2 SHANK3 PEX1 MTHFR CAPN1 ARL6IP1 CNKSR2 ND2 POLG USP27X NTRK1 GJB1 GAN GBA2 ANGPTL6 PNKP SLC30A10 HSPB3 TARS1 EGR2 GDNF RET TGFB1 SUCLA2 DAXX VPS13D DKK1 TRNE PRKAR1A GFPT1 SPG7 C19ORF12 CHN1 FBXO38 HLA-DPB1 WFS1 TDP1 SLC25A11 MFN2 IFRD1 SYNE1 AP5Z1 VHL FTSJ1 ERCC1 MUSK LTBP3 ACTA1 NFASC SPAST POMT2 GTF2E2 NEB NF1 MPZ GPI CHCHD10 POLG DLST ASXL1 CTLA4 HINT1 TUBB6 COASY HSPB1 PMPCA LYST CUBN ATP6 SELENOI MLH3 MAG GCDH ANKH ATXN8 SDHC REEP1 CTLA4 CFL2 CHRNB1 GNA14 CXORF56 MCM3AP RYR1 NDUFAF4 MSTO1 NAGA RET SLC2A1 ND2 UCHL1 NOTCH2NLC AIP SDHB HERC2 SDHC CHCHD10 VCP SCN1A TRIM2 ARSA TIMM8A COL13A1 KCNJ1 TRNH NEB KIF1B KIF1A PTPN22 PUF60 HADHB DNMT3A SLC46A1 CD59 SUCLA2 SEMA3E DHTKD1 LYST ERCC3 IDUA TWNK TPM2 HSD17B4 SIX1 TTR CDH23 H19 APP MARS1 ALDH18A1 CHRNE COL13A1 CHRNB1 MYF6 KMT2A ERCC4 KLHL40 ANKH OPA1 NDUFV1 LARGE1 MORC2 SELENON COL1A1 NIPA1 NPAP1 VHL ACTA1 DMPK SNORD116-1 SRPX2 MPV17 THPO AMACR TGFBR2 MYOT ALAD GDI1 DLL4 NDUFA13 TFG PEX5 ATAD3A C12ORF65 STXBP1 REEP2 LMNA ATXN8OS HSPD1 SPG7 SURF1 PSAP SNAP29 ERCC2 CALR EDNRB GFM2 MPZ COL4A1 HARS1 DMXL2 VAMP1 TPP1 SALL4 MDH2 DGUOK NIPBL MKRN3 SNORD115-1 SRPX2 MYO1H ACO2 PHF6 ACADS ND5 SH3TC2 SMN1 TPM3 TTBK2 SPG21 MTRR PGM3 GNAS PLEC BAP1 NF1 CYP27A1 DST GALC SMARCB1 PIK3CA SIL1 LAMA2 VPS37A TRNV ATP6 PEX14 CHD7 TCIRG1 HLA-B NARS2 NF1 VCP RNASEH2C CHRND SDHD CAPN3 PLEC GRIA3 SQSTM1 RPIA SELENON LMNA RYR1 SOST SURF1 SDHD GALC SIX5 HMBS TRNW RET LRP12 RRM2B BSCL2 JAK2 ERAP1 TNFRSF1B SLC25A21 MYH14 SMC1A CHRND PRRX1 MTFMT PLP1 ATP6 KCNC3 PIK3R5 TRIP4 RYR1 KCNJ10 BEAN1 SEPTIN9 PRTN3 NDUFAF3 PEX16 TRNF MFF NDN PLD3 DCTN1 DNM1L DNM2 XK TNXB GDAP1 HADHA IL12A LRSAM1 NOD2 POLG CDKN1A RAB7A C19ORF12 TPM3 MYPN SCN11A CYP7B1 NDUFV2 MTHFR ATP7B CHST14 IL23R FRMPD4 SLC12A6 SETX SLC25A4 LRP4 APC MFN2 REEP1 COL13A1 PEX7 XPC ACSL4 CAV1 SNRPN HSD17B4 ND6 HLA-DQB1 REEP1 POLR3A SPEG CHAT GNA11 AIFM1 MME GRN TMEM127 TRPV4 PTDSS1 PHYH HFE ANO5 SPTBN2 TREX1 CYP27A1 SLC18A3 GJA1 DSTYK NF2 SACS SDHAF2 SDHD SPTLC2 POLR3B KIF1A AIFM1 PHOX2B SCN4A CHRNE GDNF CHKB SLC2A1 SMN1 CDKL5 ND4 FKTN IGHMBP2 IDUA TBCE HINT1 FUCA1 DOK7 XPA ZNHIT3 KLC2 RNASEH1 IGHMBP2 SETD5 TPI1 NDUFS2 LITAF SPG11 PEX12 CYP2U1 TBK1 MFN2 COCH NIPA1 SPG7 PTRH2 IBA57 FXN SDHC AGXT RFC1 LRPPRC RELA GCDH KLHL41 RAI1 RMND1 UPF3B PDCD1 TTC19 TRNQ RRM2B SCN9A APC ELOVL5 ERCC2 SPG21 PMM2 CLCN7 PRKCG TBP HSPB8 DCAF8 ND5 SOD1 GNPTAB SEMA3E SIGMAR1 ADA2 VCP SHANK3 ZNF711 PHOX2B HK1 NAGS CDKN1B ADPRS FLI1 JPH1 NLRP3 SLC25A46 ERCC3 AR MPV17 DYNC1H1 PEX19 TXN2 ATL1 CHRNE ABHD12 TMEM127 INS TK2 SLCO2A1 FAH RAI1 GJC2 PEX10 CRLF1 SYNGAP1 PI4KA YARS1 GNAS EPCAM VHL TBL1XR1 PEX6 TMEM106B REEP1 ALDH18A1 DGUOK MGME1 NDUFAF5 SLC25A11 MATR3 SACS RNF168 SCO2 CHRND ND1 NDUFS4 MYD88 PHOX2B DMXL2 DPAGT1 MPL POLG2 GDF6 MTTP PRNP SERPING1 PNPT1 MAX PSAP REV3L SLC12A3 CLTCL1 TUBB3 DDHD1 POLG2 ACTA1 NDUFB8 SDHA TFG PEX1 PEX12 NDRG1 NEFL AARS1 KIF1B DES MEN1 TSC2 CLCNKB BSCL2 PIK3R5 GFPT1 ARSB COLQ BDNF DHX16 SCP2 PIK3CA WARS1 CRYAB ACTA1 RPS20 HSPD1 HLA-DRB1 ATXN10 TFG ALS2 GALC ERCC5 NDUFS2 TFAP2A NGF OPA1 ANO5 SDHA KBTBD13 DYNC1H1 SPG11 NEB TARDBP LIFR PMP2 GLA AEBP1 TRPV4 CLCN7 PRX ZFR ATP1A2 ND4L SETX FKRP TPM2 WDR48 DEAF1 SLC25A15 DNA2 HADHA GABRG2 CCM2 TBC1D20 COL6A3 SNAP29 CRAT SNX10 KIF1A TGFB1 DLST HADH SQSTM1 EXT2 FLII PMP22 NALCN MME FA2H TGFBR3 SPAST CLCN7 GDNF ATN1 EYA1 COL6A1 CEP126 XRCC4 ARSA NEFH PMM2 ATAD3A PPOX COX3 SLC52A3 ATXN3 BSCL2 MPZ PET100 RAB3GAP1 POLG ASCC1 STAT3 PEX26 KIF1C PEX6 OTX2 TRNW DDHD1 PMP22 HNRNPA2B1 RET PNPLA6 PHOX2B PRX SGPL1 NOTCH3 SDHB ABCA1 SMN2 TREX1 MPZ ACER3 TRNK DNMT1 MSH6 ALS2 PMP22 GARS1 GRIN2A TCIRG1 SDHB INSR CACNA1G MEOX1 APTX LMNB1 NF1 CPOX ERCC3 IDUA CACNA1A DNMT3A WAS UBTF EPAS1 KCNQ1OT1 PABPN1 PHYH TPP1 BIN1 TREM2 CISD2 KCNJ11 SYT2 AP1B1 PDYN EDN3 GJA1 ATP13A2 THSD1 CCR1 PMP22 CAPN1 SAR1B TPRKB PRPS1 MFN2 PSEN1 SOST GSN GMPPA GAN SCN10A TPM3 SLC52A2 MOCS2 FBN1 CDKN1B MUSK RTN2 TPM3 MPZ PRPH KIF5A MPZ ARX ERCC2 LMOD3 HLA-DRB1 UNC80 PTPN22 KIF1A CHRNA1 CA2 TRNL1 SOST PEX11B NOTCH2 MID2 DMXL2 FBN1 PRKAR1A ZNF41 POLG RAB39B AIFM1 GSN UBTF ERCC8 NEB GBA2 C12ORF65 DDB2 PDE4D HADHA VHL TYMP HFE ALS2 MYH7 KLC2 RAB18 TTR SCN9A LZTR1 TP53 SERPING1 ND1 RYR1 LYST DMD PNPT1 TPM2 C9ORF72 SOST GDAP1 ZFYVE26 ACTA1 DEAF1 HCFC1 WASHC5 MANBA NEFL NGF ASCL1 RYR1 PMP22 C12ORF65 TRNL1 BMS1 KLHL41 KIF1B LARGE1 RYR1 TNFSF11 SETX TRIM32 BAP1 COX2 LRP4 GMPPB NEFL DCTN1 FAN1 PDK3 SMARCB1 PDYN ATXN8 COX1 MFF MSH2 KLHL41 DHH PMP22 GNB4 DEGS1 ATP6 TWNK TNFSF11 SLC52A2 LMNA LAMB2 ERCC4 KLHL41 GALC MED12 MAG CPLANE1 LIFR USP9X COMP PEX2 ELOVL5 COQ7 PMP22 PWAR1 MATR3 APTX FUS SLC5A7 GDF3 RET APC PPP2R2B PIK3CD AP1S1 BRAF ACTA1 COASY MPZ SEPTIN9 VAMP1 ADSS1 GMPPB PMP22 RAD21 ABCD1 NF1 SCN4A DSE ND6 NAGA PSAP AIP MARS1 ATL3 SLC2A1 ATXN2 KRAS CPOX SLC33A1 FMR1 FGF3 BAG3 HK1 POLG TWNK IDUA SIGMAR1 PMP22 SLC18A3 ARHGEF6 MSTO1 PRKCG DNM2 PSAP PRPS1 AP1S1 CHST14 NF2 BSCL2 TYROBP POLG LIPT1 DNAJB6 PRPS1 TRNS2 TK2 MYOT PIGB SDHB TRNS1 KLHL40 KIF1A MICU1 POMT1 HSPB1 PRRT2 MAT1A CLCN7 IDUA IFIH1 TOP3A ATXN1 SYP CYTB SPG11 SCYL1 GNAS SETX ND1 MYH7 GNE OPA1 PLEKHG5 ZEB2 ATP5F1E LDB3 CACNA1G COA7 COX3 ND5 FXN GBA2 WFS1 ND4 SPG11 MAFB ATXN3 SLC19A2 ND1 SUFU NF2 CTDP1 TSC1 GDAP1 UBA1 LMOD3 TSPAN7 FBLN5 GNAS INPP5K FLVCR1 RETREG1 TCIRG1 UBAC2 MTMR14 RETREG1 COX1 NAGLU RAI1 UBQLN2 NGLY1 IBA57 TPI1 CCT5 PYROXD1 OSMR NEU1 NEFH CDKL5 SMN1 DGUOK MORC2 ALMS1 HDAC8 BIN1 ALDH18A1 SERPING1 DNAJC3 IGF2 ERCC6 POMT1 TWNK TRNK CASR NDUFS7 TBK1 SOST FLVCR1 TWNK KRAS GDAP1 DNAJB2 SUMF1 ABCA1 SURF1 CYTB COLQ MOCS1 SLC5A6 AAAS XRCC1 PEX6 ABCC8 ZC4H2 SOX10 PEX6 C19ORF12 BIN1 MME GJC2 RET CA2 NTRK1 ASAH1 AMPD2 ASAH1 TK2 NDUFS3 CNTNAP1 ELOVL4 CHRNA1 TRAF7 SDHAF2 PNKP PLA2G6 PLEC GJC2 ERCC6 RNASEH2B GBE1 BTNL2 NDUFA12 SDHD TTN NDUFA9 C9ORF72 SLC25A4 MECP2 KNSTRN TYMP KCNJ11 PTCHD1 ALG14 ERCC8 NDUFA4 MTM1 PDK3 OSTM1 FLRT1 GCLC POMT1 POLG SAMHD1 HSPB1 SLC39A14 FGF14 ATAD3A PEX11B MEGF10 GABBR2 MAPT MYH7 MKRN3-AS1 CASR SLC25A1 ERCC4 SALL4 YME1L1 AIFM1 MED25 HLA-DPA1 CHD7 GNAQ COX15 SLC12A3 SCN9A TPM2 NDUFA2 COL12A1 HPGD AR ND3 AFG3L2 CLCF1 SQSTM1 MLH1 B4GALNT1 NALCN GMPPA KIT BTNL2 SPART ACTA1 GFPT1 PSAP KLRC4 CCND1 POLR3A LRP5 HSD3B7 IL12A-AS1 C9ORF72 PEX7 TRPV4 SH3TC2 ATP13A2 SMO PDCD10 PNPLA6 CDKN1B MEN1 ASCL1 NDUFAF6 SIX1 PPP2R2B ARSI PAK3 HMBS SDHB FA2H TDP1 RNF43 FKRP CHRNA1 TCIRG1 TRPM7 SLC5A7 SCO2 AMER1 C11ORF95 GARS1 AARS1 COX6A1 MEN1 NDUFS1 BMPR1A PDGFB ERCC5 GCH1 PMS1 IQSEC2 SLC52A3 DNM2 GRM1 SORD NDUFS2 FKRP CACNA1A FUS ATRX PDSS1 POLG CLP1 FH NDUFS8 SIM1 CD28 MYH14 IARS2 FBN1 SERPINI1 HNRNPA1 PPOX DYNC1H1 ADAR PLXND1 SMCHD1 ND4L GJB1 ATP6 TBCE MTTP SDHA TPM3 DNAJC3 SMARCE1 RET DHH ARSA KY ERCC5 SPEG EBF3 DNASE1L3 LRP5 AP5Z1 TIMMDC1 PLEKHG5 VRK1 SGCD NF1 CDKN2C SIX1 ATL1 PLEKHM1 PRRT2 MTMR2 ATP13A2 HRAS KRIT1 PLEKHG4 GLE1 CTSD ATXN7 ERCC3 SAR1B KCND3 TPM2 ADGRG1 ATXN3 PRPS1 DLG3 B2M TTPA FIG4 PNKP AMACR ALDH18A1 PDHA1 MAGEL2 TBC1D24 RPS6KA3 ALAD EGR2 DNM2 INF2 CRPPA DARS2 LDB3 FGD4 MYPN SH2B3 TBC1D24 MPLKIP AHCY ACOX1 VCP IL10 COX3 VCP SMPD1 ALS2 GJB1 HADHB DOK7 PEX10 CLCN4 SPTBN4 MEN1 COL6A2 MYMK MPZ ECHS1 PEX13 SCN9A MAGEL2 EYA1 ACTA1 NAGA CHCHD10 ENG ATP6 DNMT1 ND6 GCK NTRK1 SDHD ND5 FOXRED1 KIF5A ATXN3 MYPN VCP AGRN SBF1 SCYL1 CDH23 HK1 SLC25A19 IARS2 MEFV ERCC6 WASHC5 SNAP25 RAB3GAP2 SLC30A10 AMER1 WNK1 TERT ND4 MAFA ELP1 TWNK RTN2 ADCY6 SDHC TMPRSS6 TNFRSF11A PRICKLE1 SDHB WIPF1 PRKAR1A GNA11 PEX3 RFC1 CTDP1 NF2 KLHL9 TET2 SLC29A3 AGRN SLC19A3 RNASEH2A GARS1 EYA1 SPRED1 ATP1A1 ALG2 GCLC MPC1 CACNA1A TGM1 FAS AFG3L2 SCN11A LRP5 SLC25A15 SLC5A7 CNTNAP1 CBLIF COL6A2 ERCC2 MAX PDX1 RAPSN PMP22 ATL1 ADAT3 SMC3 COG8 SAMD9L KCNK9 NOD2 STAT4 AGRN ADA2 TTN ATXN8OS ZFYVE26 RAI1 MICU1 MPZ SOX10 SEMA4A SCN4A CYP7B1 VPS13A SLC12A1 ITGB4 AGTR2 IPW VPS13A NGLY1 TTR PIEZO2 SDHB STUB1 TACO1 ALG13 FDX2 TNFRSF11A FRG1 AIFM1 CCND1 TLR4 MAPT ERCC8 GBE1 FGF14 TRNW CHMP2B SDHD CLCN7 EDN3 AKT1 PMP22 CPT1C AK9 SDHD NEB TBCD PWRN1 C12ORF65 TNFRSF1A ND6 MYO9A ATXN1 PEX7 ZFHX2 IL1RAPL1 MPL SUMF1 STX16 C4A MTMR14 GCGR DARS2 SYNE1 CCT5 ND2 POLG MYMK FMR1 NDUFAF2 SLC9A7 ARHGEF10 DAB1 SDHC HACE1 LRP4 CHAMP1 AAAS TRAPPC11 SCN10A NTNG1 GDAP1 FAM126A LMOD3 ELP1 ERLIN2 RRM2B RNF113A MECP2 SLC46A1 HOXB1 ARSA ERCC6 KARS1 EGR2 CHRNA1 CHRNB1 SPTLC1 CDKN2B FLNC SIGMAR1 CHRNE MRE11 RNF170 KIF1B VHL POMT2 IQSEC2 DMPK PEX10 UGT1A1 ZNF81 C19ORF12 ZC4H2 MFN2 GPR101 GTF2H5 PMS2 COA8 SBF2 ARL6IP1 ZEB2 COL3A1 CHRND ABCC8 JAK2 HARS1
Protein Mutations 0
SNP 0
Protein Mutations 3
G11778A G3460A T14484C
SNP 0
HP:0009830: Peripheral neuropathy
Genes 915
ATP7A OPA3 SPG11 ND4 NDUFA10 MYD88 TXN2 SHANK3 PEX1 MTHFR CAPN1 ARL6IP1 ND2 POLG NTRK1 GJB1 GAN GBA2 PNKP SLC30A10 HSPB3 TARS1 EGR2 VPS13D DKK1 TRNE SPG7 HLA-DPB1 WFS1 TDP1 MFN2 IFRD1 SYNE1 AP5Z1 ERCC1 SPAST GTF2E2 GPI POLG CTLA4 HINT1 COASY HSPB1 PMPCA LYST CUBN ATP6 SELENOI MLH3 MAG ATXN8 CTLA4 GNA14 MCM3AP MSTO1 NAGA SLC2A1 ND2 UCHL1 NOTCH2NLC HERC2 SCN1A TRIM2 ARSA TIMM8A KCNJ1 TRNH KIF1A PTPN22 HADHB SLC46A1 CD59 SUCLA2 DHTKD1 LYST ERCC3 TWNK HSD17B4 TTR H19 APP MARS1 ALDH18A1 MYF6 KMT2A ERCC4 OPA1 NDUFV1 MORC2 COL1A1 NIPA1 NPAP1 SNORD116-1 SRPX2 MPV17 THPO AMACR TGFBR2 MYOT ALAD NDUFA13 TFG PEX5 ATAD3A C12ORF65 STXBP1 REEP2 ATXN8OS HSPD1 SPG7 SURF1 PSAP SNAP29 ERCC2 CALR EDNRB MPZ HARS1 DMXL2 VAMP1 TPP1 DGUOK NIPBL MKRN3 SNORD115-1 ACO2 PHF6 ND5 SH3TC2 TTBK2 SPG21 MTRR PGM3 GNAS CYP27A1 DST GALC PIK3CA SIL1 LAMA2 VPS37A TRNV ATP6 HLA-B VCP RNASEH2C GRIA3 RPIA LMNA SURF1 GALC HMBS TRNW RRM2B BSCL2 JAK2 ERAP1 TNFRSF1B MYH14 SMC1A MTFMT PLP1 ATP6 KCNC3 PIK3R5 TRIP4 KCNJ10 BEAN1 SEPTIN9 PRTN3 NDUFAF3 TRNF NDN PLD3 DNM1L DNM2 XK TNXB GDAP1 HADHA IL12A LRSAM1 POLG RAB7A C19ORF12 SCN11A CYP7B1 NDUFV2 MTHFR ATP7B CHST14 IL23R SLC12A6 SETX SLC25A4 MFN2 REEP1 COL13A1 PEX7 XPC CAV1 SNRPN ND6 HLA-DQB1 REEP1 POLR3A CHAT GNA11 AIFM1 MME TRPV4 PHYH HFE SPTBN2 TREX1 CYP27A1 SLC18A3 DSTYK NF2 SACS SPTLC2 POLR3B KIF1A AIFM1 SLC2A1 CDKL5 ND4 IGHMBP2 IDUA TBCE HINT1 FUCA1 XPA KLC2 RNASEH1 SETD5 TPI1 NDUFS2 LITAF SPG11 PEX12 CYP2U1 MFN2 NIPA1 SPG7 IBA57 FXN AGXT RFC1 RELA GCDH RAI1 RMND1 PDCD1 TRNQ RRM2B SCN9A ELOVL5 ERCC2 PMM2 PRKCG TBP HSPB8 DCAF8 ND5 GNPTAB SHANK3 NAGS FLI1 JPH1 NLRP3 SLC25A46 ERCC3 AR MPV17 DYNC1H1 ATL1 ABHD12 INS TK2 SLCO2A1 FAH RAI1 GJC2 PEX10 SYNGAP1 YARS1 GNAS EPCAM PEX6 REEP1 ALDH18A1 DGUOK NDUFAF5 MATR3 SACS RNF168 SCO2 ND1 NDUFS4 MYD88 DMXL2 MPL POLG2 MTTP SERPING1 PSAP SLC12A3 CLTCL1 TUBB3 DDHD1 NDUFB8 SDHA TFG NDRG1 NEFL AARS1 KIF1B MEN1 CLCNKB BSCL2 PIK3R5 ARSB DHX16 SCP2 WARS1 RPS20 HSPD1 HLA-DRB1 TFG ALS2 GALC ERCC5 NDUFS2 NGF OPA1 DYNC1H1 LIFR GLA AEBP1 TRPV4 PRX ZFR ATP1A2 ND4L SETX WDR48 DEAF1 SLC25A15 HADHA GABRG2 TBC1D20 SNAP29 CRAT KIF1A TGFB1 HADH FLII PMP22 MME SPAST ATN1 XRCC4 ARSA PMM2 ATAD3A PPOX COX3 ATXN3 BSCL2 MPZ PET100 RAB3GAP1 POLG ASCC1 STAT3 KIF1C TRNW DDHD1 PMP22 HNRNPA2B1 PNPLA6 PRX SGPL1 NOTCH3 ABCA1 TREX1 MPZ ACER3 TRNK DNMT1 MSH6 ALS2 PMP22 GARS1 GRIN2A INSR CACNA1G APTX CPOX ERCC3 CACNA1A WAS KCNQ1OT1 PHYH TPP1 BIN1 CISD2 KCNJ11 SYT2 AP1B1 PDYN ATP13A2 CCR1 PMP22 CAPN1 SAR1B PRPS1 MFN2 GSN GMPPA GAN SCN10A SLC52A2 FBN1 RTN2 MPZ KIF5A MPZ ERCC2 HLA-DRB1 UNC80 PTPN22 KIF1A TRNL1 NOTCH2 DMXL2 FBN1 POLG AIFM1 GSN UBTF ERCC8 GBA2 C12ORF65 DDB2 PDE4D HADHA TYMP HFE KLC2 RAB18 TTR SCN9A TP53 SERPING1 ND1 RYR1 LYST PNPT1 GDAP1 ZFYVE26 DEAF1 WASHC5 MANBA NEFL NGF PMP22 C12ORF65 TRNL1 SETX COX2 NEFL FAN1 PDK3 PDYN ATXN8 COX1 MFF MSH2 DHH PMP22 GNB4 DEGS1 ATP6 TWNK SLC52A2 GALC MAG LIFR COMP ELOVL5 COQ7 PMP22 PWAR1 MATR3 APTX FUS SLC5A7 PPP2R2B PIK3CD AP1S1 BRAF COASY SEPTIN9 VAMP1 PMP22 RAD21 ABCD1 SCN4A DSE ND6 NAGA PSAP AIP MARS1 ATL3 SLC2A1 ATXN2 KRAS CPOX SLC33A1 FMR1 BAG3 HK1 POLG TWNK PMP22 MSTO1 PRKCG DNM2 PSAP PRPS1 AP1S1 CHST14 BSCL2 POLG LIPT1 PRPS1 TRNS2 MYOT PIGB TRNS1 KIF1A MICU1 HSPB1 PRRT2 IDUA IFIH1 TOP3A ATXN1 CYTB SPG11 SCYL1 GNAS ND1 OPA1 ZEB2 ATP5F1E LDB3 CACNA1G COA7 COX3 ND5 FXN GBA2 WFS1 ND4 SPG11 ATXN3 SLC19A2 ND1 NF2 CTDP1 GDAP1 FBLN5 GNAS INPP5K FLVCR1 RETREG1 UBAC2 RETREG1 COX1 NAGLU RAI1 NGLY1 IBA57 CCT5 NEFH CDKL5 DGUOK MORC2 ALMS1 HDAC8 ALDH18A1 SERPING1 DNAJC3 IGF2 ERCC6 TWNK TRNK CASR NDUFS7 FLVCR1 TWNK KRAS GDAP1 DNAJB2 ABCA1 SURF1 CYTB SLC5A6 AAAS XRCC1 ABCC8 SOX10 PEX6 C19ORF12 MME GJC2 CA2 NTRK1 AMPD2 NDUFS3 ELOVL4 PNKP GJC2 ERCC6 RNASEH2B GBE1 BTNL2 NDUFA12 NDUFA9 KNSTRN TYMP KCNJ11 ERCC8 NDUFA4 PDK3 OSTM1 FLRT1 GCLC POLG SAMHD1 HSPB1 FGF14 ATAD3A PEX11B GABBR2 MAPT MKRN3-AS1 CASR SLC25A1 ERCC4 AIFM1 MED25 HLA-DPA1 COX15 SLC12A3 SCN9A NDUFA2 HPGD AR ND3 AFG3L2 CLCF1 MLH1 B4GALNT1 NALCN GMPPA SPART PSAP KLRC4 CCND1 POLR3A HSD3B7 IL12A-AS1 PEX7 TRPV4 SH3TC2 ATP13A2 PNPLA6 NDUFAF6 PPP2R2B ARSI HMBS FA2H TDP1 SCO2 C11ORF95 GARS1 AARS1 COX6A1 NDUFS1 BMPR1A ERCC5 GCH1 PMS1 SLC52A3 GRM1 SORD NDUFS2 CACNA1A PDSS1 POLG CLP1 NDUFS8 SIM1 CD28 MYH14 IARS2 SERPINI1 HNRNPA1 PPOX DYNC1H1 ADAR ND4L GJB1 ATP6 TBCE DNAJC3 DHH ARSA ERCC5 EBF3 DNASE1L3 AP5Z1 TIMMDC1 PLEKHG5 ATL1 PRRT2 MTMR2 ATP13A2 PLEKHG4 GLE1 CTSD ATXN7 SAR1B KCND3 ATXN3 PRPS1 B2M TTPA FIG4 PNKP AMACR ALDH18A1 PDHA1 MAGEL2 TBC1D24 ALAD EGR2 INF2 DARS2 LDB3 FGD4 SH2B3 TBC1D24 MPLKIP AHCY ACOX1 IL10 COX3 VCP SMPD1 GJB1 HADHB PEX10 SPTBN4 MPZ ECHS1 SCN9A MAGEL2 NAGA CHCHD10 ATP6 DNMT1 ND6 GCK NTRK1 ND5 FOXRED1 KIF5A ATXN3 VCP AGRN SBF1 SCYL1 HK1 SLC25A19 IARS2 MEFV ERCC6 WASHC5 SNAP25 RAB3GAP2 SLC30A10 WNK1 ND4 ELP1 TWNK RTN2 TMPRSS6 PRICKLE1 WIPF1 PRKAR1A GNA11 RFC1 CTDP1 KLHL9 TET2 SLC19A3 RNASEH2A GARS1 ATP1A1 GCLC MPC1 CACNA1A TGM1 FAS AFG3L2 SCN11A SLC25A15 SLC5A7 CBLIF ERCC2 PDX1 ATL1 ADAT3 SMC3 COG8 SAMD9L KCNK9 STAT4 ADA2 ATXN8OS ZFYVE26 RAI1 MICU1 MPZ SOX10 SEMA4A SCN4A CYP7B1 VPS13A SLC12A1 IPW VPS13A NGLY1 TTR PIEZO2 STUB1 TACO1 FDX2 AIFM1 TLR4 GBE1 FGF14 TRNW PMP22 CPT1C TBCD PWRN1 C12ORF65 TNFRSF1A ND6 MYO9A ATXN1 PEX7 ZFHX2 MPL STX16 C4A MTMR14 DARS2 SYNE1 CCT5 ND2 POLG FMR1 NDUFAF2 DAB1 CHAMP1 AAAS TRAPPC11 SCN10A NTNG1 GDAP1 FAM126A ERLIN2 RRM2B RNF113A MECP2 SLC46A1 ARSA KARS1 EGR2 SPTLC1 SIGMAR1 MRE11 RNF170 IQSEC2 DMPK C19ORF12 MFN2 GPR101 GTF2H5 PMS2 COA8 SBF2 ARL6IP1 ZEB2 ABCC8 JAK2 HARS1
Protein Mutations 0
SNP 0