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 NCT00747487

Developed by Shray Alag, 2020-2021.
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 1446
SPG11 TNFSF11 TRNK PRICKLE1 ALDH18A1 MAGEL2 SCN9A PET100 FBXO38 SCN9A GNPTAB PEX3 WASHC5 SCYL1 MAGEL2 CACNA1G SOST SBF1 NDUFAF4 SLC9A7 IARS2 CHAMP1 FRMPD4 NTRK1 NGLY1 NAGA PUF60 DNM2 ND1 FIG4 SDHD EDN3 SLC5A7 KCNJ11 HPGD WASHC5 SPG11 MME OCA2 ALG14 GNA11 ATXN10 DNAJB6 DEGS1 PIK3CD ARSA ATXN3 MAFB LMNA POLG HLA-DPA1 AARS1 RFC1 KCND3 ATP6 POLG CLCF1 DMD ERCC5 CYP27A1 DOK7 SIM1 MYD88 MTTP SIGMAR1 TGM1 ATL1 SDHA DCTN1 CAPN1 TARS1 NF1 NEB AP1S1 LAMB2 PMP22 KARS1 HSPB1 TBK1 PNKP MORC2 FDX2 BRAF PEX10 PMPCA POLG2 HINT1 PIK3CA TBC1D20 TWNK ATN1 MTHFR SMN1 PEX10 ERCC8 HSPB1 HLA-DPB1 VCP CFL2 CHRNA1 GMPPA ATP7A RYR1 CLCN4 SURF1 TRIM32 THSD1 DLST ND6 ALAD ACER3 MEN1 COL6A1 DNMT3A ACOX1 SORD UBQLN2 THPO SLC33A1 NOD2 ATP6 SOST SLC12A6 GRM1 RYR1 AR TRNW NEB GDNF CTLA4 TMEM106B EPAS1 TPP1 SOX10 TTC19 ERCC3 TPM2 CDH23 IGF2 SDHD CHRNE AK9 GNE CAV1 CHRNB1 KCNJ1 MYF6 ERCC2 NDUFAF6 AMACR FAH ARL6IP1 GALC ERCC1 RASA1 ND5 SNORD115-1 NF1 MADD NF1 ERCC8 SDHAF2 PDYN PRKAR1A MKRN3-AS1 LYST PSAP TCIRG1 SDHA MYOT HPDL LIFR ALS2 FAN1 LDB3 FTSJ1 DLL4 COX15 SDHD HRAS XK TTN NGLY1 CDKL5 ATXN1 EGR2 C11ORF95 REEP2 FMR1 ATXN8 FLI1 TRIM2 PDYN LRP5 SCO2 ARSA ERCC2 SDHC MPL PMP22 ALDH18A1 ATXN3 ARL6IP1 ELP1 TPP1 NAGLU KIF1B SOST KMT2A PWRN1 DNM2 IPW GDNF ASCL1 ATXN7 SLC52A2 ND4 TPM2 SLC29A3 PLEKHM1 ELP1 POLG GPR101 BAP1 MAG MPZ GJB1 APP MCM3AP MAX COASY C19ORF12 GDAP1 SMARCB1 SLC19A3 MARS1 MORC2 SLC25A15 MSH6 MAG MME KRAS KCNJ10 PEX13 ERCC8 UNC80 MEFV RET GJC2 HNRNPA2B1 SUCLA2 RNASEH2B MPZ NOTCH3 CCND1 KCNQ1OT1 GJA1 AHCY TRNK LAMA2 REEP1 SNX10 SACS HMBS DMXL2 NTRK1 CYP7B1 CNTNAP1 POMT2 NDUFS2 RYR1 SDHC OCA2 PLP1 NOTCH2 ATXN1 ZFYVE26 ERLIN2 CTLA4 RAD21 SLC5A7 SLC5A6 SCYL1 ALMS1 CHRND VCP ECHS1 AGRN IDUA ND1 PMP2 SETX PTPN22 PEX14 DYNC1H1 SQSTM1 TRNS2 MAGEL2 SYNGAP1 DYNC1H1 DNASE1L3 PSEN1 SPRED1 DNM2 IL12A-AS1 FBN1 TYMP ZNHIT3 CDKN1B KIF1C C12ORF65 GPI TPM3 SPG7 NGF DGUOK STUB1 MTMR2 ATL3 SCN11A TACO1 SQSTM1 MME IDUA BSCL2 CNTNAP1 C19ORF12 SPG11 IL12A CNKSR2 POLG2 SOST PEX7 APC SAR1B SLC18A3 PHYH CLP1 DSE XPC USP9X MKRN3 ARHGEF10 PDCD1 MYH7 SPEG ATAD3A TXN2 MAT1A KIF5A CRYAB GALC DKK1 LIFR RET PSAP GARS1 VAMP1 PMP22 FXN COX6A1 ANKH TWNK VHL GCGR DGUOK PMM2 PLD3 AIFM1 ACTA1 SCN9A GBA2 RAPSN RPIA CHRND ASCL1 TTPA LRP5 APC OPA1 NDN PEX5 ND2 SLC46A1 GBE1 NTNG1 RAI1 MPL SLC30A10 SHANK3 POMT1 C12ORF65 COQ7 SDHC SLC2A1 COL6A2 XPA RRM2B PLEC PEX12 FMR1 SPTLC2 INPP5K CYTB SH3TC2 B2M PNKP MPLKIP PRPS1 NDUFS2 TPI1 WARS1 GNA14 MADD FGF14 HSD17B4 GCDH KLHL41 ADA2 CD59 CHCHD10 MED12 COA7 TPM3 HK1 CTSD DOK7 TWNK CCM2 APC ATP7B DARS2 CLCN7 ERCC3 ATAD3A SPART GCLC RFC1 NEU1 HLA-DQB1 COL6A3 UBA1 PYROXD1 PMS1 TBC1D24 POLG SOD1 LMNA SPG21 ATL1 FAM126A SYP LMNB1 MYOT RNF113A HNRNPK ND1 ELOVL5 MEN1 SEPTIN9 PEX16 SOX10 TRIP4 IQSEC2 KLC2 SDHB CISD2 PNPLA6 POLG DEAF1 DHTKD1 ADGRG1 DNMT3A TK2 MPZ MLH1 PEX6 COLQ EDN3 PEX1 VCP CDKN1B KIF1A TRPV4 SERPINI1 KCNJ10 NDUFA2 GFPT1 TYMP SNX10 RNF168 CHRNB1 COX3 BEAN1 COG8 NDUFV2 IDUA GFPT1 JAK2 POLG HADHB MTTP SERPING1 TMEM127 ARSA PRKCG CLCN7 PLXND1 SLC12A3 GDAP1 B4GALNT1 TTBK2 HSPB1 ACTA1 NDUFAF3 PLEKHG5 ALG2 NDUFAF2 SPTBN2 ERLIN2 PEX6 PEX2 PEX10 KIF1B WFS1 SIX5 PMP22 FA2H LRP4 TSC1 STX16 CLCNKB PIGB REEP1 SURF1 PMP22 UBTF MYO1H FBLN5 SIX1 HMBS PIK3CA ABCC8 ACTA1 SEMA4A RTN2 TUBB6 DMPK PSAP ERCC5 ZFHX2 SURF1 TFAP2A STAT3 PIK3R5 RET ZFYVE26 PRRX1 PDE4D KBTBD13 MGME1 DHX16 VCP ERCC3 SHANK3 TCIRG1 POLR3A TDP1 ZFR CACNA1A ATP1A1 PI4KA MYH7 ERCC6 MYPN GRIN2A SLC18A3 RAB18 RYR1 REEP1 FBN1 BDNF ATP13A2 AP1S1 SACS GCH1 SBF2 DNMT1 MDH2 HADHA DDHD1 FUS RAI1 HFE HNRNPK NDUFS2 SMN1 CDKL5 HSPB8 ENG CHRNE ZEB2 MAX ATP6 SMC1A EYA1 RNF43 SELENON ATXN8OS VPS13D NEFH NALCN ATAD3A ND4 ATXN3 SLC52A3 PMP22 AR VCP SMC3 YME1L1 PNKP PDX1 PEX19 PDK3 GBA2 CD28 NFASC POLG PEX5 KY PRNP ADA2 FRG1 YARS1 HNRNPA1 TPM3 PHOX2B KLHL9 MSTO1 OPA3 ADAR MTRR KIF1A HDAC8 MLH3 CHD7 SH3TC2 COMP GALC PMP22 COL4A1 SRPX2 PRRT2 TNFRSF11A EYA1 FH GDAP1 SETX KIF1A EGR2 MAPT MFN2 GDF6 TFG NF1 DNAJC3 SCN1A CASR GFPT1 NARS2 HSD3B7 VHL H19 TREM2 IFRD1 LRP12 SNAP29 PEX11B SPG7 BSCL2 SLC12A1 BIN1 C9ORF72 DAB1 WFS1 SELENOI ASAH1 SNAP25 GNAS GDNF ALS2 MYPN VHL TGFBR3 PABPN1 ADSS1 PRPS1 DMXL2 MAPT LRP5 LITAF AAAS SPTBN4 GCLC MICU1 SDHB SETX PRPH NGF RPS6KA3 SELENON TRPV4 SERPING1 BTNL2 ABCD1 NALCN ATXN8OS ASCC1 SLC39A14 ACTA1 CHRNA1 ND6 PEX6 ALG13 COX20 BAG3 UCHL1 MEN1 AIFM1 ACADS CPLANE1 AGTR2 ZNF711 GJB1 GSN ERCC6 PRPS1 NEB DDB2 PHF6 SDHD RET RRM2B FKRP PPOX NEFL PTDSS1 CHRNE LMNA GJC2 ATP13A2 RAB3GAP2 TTR AARS1 SH2B3 AMACR BTNL2 HADHA RYR1 NEB MFN2 MEGF10 ARX PNPT1 GAN C9ORF72 ACTA1 MFN2 ANKH HINT1 MPZ NDN HSPD1 LARGE1 PLOD1 PLEC MPV17 PSAP RAB39B SDHB LMOD3 TGFBR2 COX3 CPT1C ABHD12 MICU1 NEFL SPAST SCN4A NTRK1 RET BMS1 KLHL41 FKRP CCT5 SGCD TCIRG1 CYP27A1 DST PMM2 TPM2 BAP1 MEN1 COX1 IGHMBP2 HSD17B4 MUSK TIMM8A LARGE1 GABRG2 FUCA1 POLG MYD88 ARSB PEX6 FBN1 ND4L DCTN1 SCN11A SEPTIN9 PHOX2B FLVCR1 ND2 PMS2 KLHL41 LRSAM1 ND4 IGHMBP2 POLG BIN1 CYP7B1 CHKB COLQ TTR KLHL41 PPOX SUMF1 SPEG GDI1 CA2 PTCHD1 RETREG1 TK2 TBL1XR1 NPAP1 NOTCH2NLC APTX HPDL MEOX1 LTBP3 ZC4H2 DAXX EDNRB PLA2G6 FGD4 PRKCG KRAS KNSTRN CYTB AP1B1 AP5Z1 PHOX2B ACTA1 CHRND NF1 SLC5A7 SLC30A10 SMN2 COL13A1 SPTLC1 CHST14 TRNV RMND1 PIEZO2 SLC2A1 CAPN1 CYP2U1 MARS1 SLC12A3 MFN2 SLC52A3 MATR3 GALC PDCD10 AIFM1 FGF3 COL13A1 TPRKB GMPPB SLC25A4 IDUA KIT CHRNB1 GSN PNPT1 TSPAN7 KCNC3 SDHB SEMA3E AIP C12ORF65 PDSS1 PRTN3 TFG VPS13A SMARCB1 NAGA CLCN7 NOD2 NDUFA12 TRNS1 SDHD TRNH KLHL40 SIGMAR1 AMPD2 GMPPA ABCD1 ATP1A2 SNRPN TGFB1 SALL4 MOCS1 DARS2 COASY SMN1 DEAF1 TREX1 ZNF81 ND4L ND5 IFIH1 MATR3 DES DNM1L AFG3L2 SLC25A11 MTM1 GCDH UGT1A1 PRPS1 ND1 NEFH SALL4 ABCA1 SLC19A2 ND5 SUFU NF2 PMP22 LMOD3 AAAS PAK3 SIL1 SLC25A4 ZEB2 CHN1 C4A GLE1 ACO2 MYH7 KIF1A TRNQ EYA1 CTDP1 RAI1 VPS37A COL1A1 ATP6 SNRPN SLC25A19 AGXT SDHAF2 PNPLA6 VCP TNFSF11 TBC1D24 OSMR SLC25A15 DNMT1 TPM3 ATXN8 MFF BIN1 XRCC4 SERPING1 ADCY6 ERCC2 SYNE1 ND3 ARSI MSTO1 PDHA1 C9ORF72 TNFRSF11A SUMF1 GLA POLR3B RTN2 MPZ MSH2 ASXL1 CHRND GDF3 MMACHC CUBN HADHB GDAP1 CACNA1A AMER1 CAPN3 ELOVL5 TBCD PTPN22 KIF1B RELA SDHB TRNF NLRP3 TRPV4 SCN4A NDUFV1 SCN4A TRAF7 GJC2 PLEC EXT2 RNASEH2A NDUFA13 GABBR2 SDHB TTN NDUFA4 ATRX REEP1 ACSL4 IDUA CHCHD10 ABCC8 MID2 TYROBP GMPPB MPZ DNAJB2 KLC2 MPC1 PEX7 POLR3A IBA57 LZTR1 C19ORF12 ANO5 STXBP1 ATP5F1E PWAR1 SCP2 AGRN ALAD ERCC4 ATP6 TNXB TBCE TSC2 POLG NDUFS3 PHYH NIPBL WNK1 TPM2 LIPT1 NDN SLCO2A1 DNM2 SLC25A21 TRNL1 IDS SPG21 C12ORF65 VCP OTX2 PPP2R2B NAGS OCA2 MYMK ARSA RPS20 SQSTM1 KLHL40 AP5Z1 CACNA1G FLVCR1 PIK3R5 LYST FA2H SMO INSR CDKN2C NDUFA10 ND2 AFG3L2 ADAT3 PEX7 PSAP PDK3 CPOX CPOX IL1RAPL1 PEX11B FGF14 PTRH2 ADPRS PLEKHG5 POMT2 KIF1B GJA1 CRLF1 CLCN7 TRPM7 NDUFB8 BSCL2 CDH23 NDUFS7 PDGFB AEBP1 ERCC6 COL6A2 EPCAM MECP2 VPS13A SCO2 IL10 CEP126 NDUFS8 PRKAR1A FKTN ATXN2 REV3L TARDBP GCK SPG11 WIPF1 GNA11 NF2 TGFB1 SDHD DCAF8 NDUFAF5 TNFRSF1B TBK1 ATXN3 RNASEH1 SNORD116-1 RNASEH2C ELOVL4 SAMD9L VAMP1 TRNW GBA2 GJB1 SGPL1 ND4 NF1 RRM2B KRIT1 TPM3 GARS1 SOST SMARCE1 TWNK ERCC4 SMPD1 MPV17 MPZ EXT1 CDKN2B SIX1 CCND1 SPAST CRAT DLST CLCN7 SLC2A1 ATP13A2 DNA2 NEFL PPP2R2B KIF1A SEMA3E GBE1 SRPX2 IDS MED25 FLNC OPA1 ZNF41 MYH14 FXN NDRG1 FOXRED1 DDHD1 FLRT1 STEEP1 SPG7 OPA1 JPH1 MTMR14 HSPB3 FKRP SDHC TFG DNAJC3 SAR1B KCNJ11 MYPN TK2 CALR SCN10A PRRT2 ALDH18A1 ERCC2 SUCLA2 MFN2 COA3 EGR2 IL23R COX2 PRX ABCA1 IARS2 HADHA CHRNE USP27X ND6 XRCC1 ACTA1 UBTF KCNK9 RAI1 PEX12 HADH SCN9A ALDH18A1 SNRPN SIX1 ACTA1 DMPK ZC4H2 TRNE COL3A1 AIFM1 SDHC TIMMDC1 PGM3 HARS1 VHL HFE TRNW SLC46A1 MTFMT CHAT MANBA IBA57 CHST14 SLC25A46 TLR4 TUBB3 APTX TBCE RAB7A SLC25A1 HACE1 RAB3GAP1 ANO5 LRPPRC VRK1 TERT MPZ DSTYK HOXB1 KIF5A SDHA TMPRSS6 TBP AIFM1 WAS CASR PEX26 NIPA1 MOCS2 CHCHD10 NF2 NF2 TCIRG1 COX3 LRP4 NDUFS1 TOP3A SAMHD1 TP53 GDAP1 PMP22 DPAGT1 TNFRSF1A MAGEL2 EBF3 CACNA1A DGUOK STAT4 TWNK MUSK HK1 BSCL2 MYO9A GTF2H5 TMEM127 RYR1 COL13A1 GNAS TWNK AMER1 SETD5 CCR1 HK1 UBAC2 PRX NIPA1 AIP BMPR1A CHD7 FAS ITGB4 UPF3B LRP4 MTHFR NDN COL12A1 ALS2 RNF170 CHMP2B NDUFA9 HCFC1 SYNE1 SMCHD1 CBLIF SNAP29 VHL ERAP1 ERCC6 PLEKHG4 TRNL1 RET INF2 GRN MYH14 TDP1 JAK2 SDHB SNRPN DYNC1H1 PHOX2B PRPS1 AKT1 LYST DMXL2 COCH TPM2 AGRN NEB MYMK GNB4 HERC2 ND5 SDHD SYT2 MAFA DLG3 GNAQ GFM2 CDKN1B GNAS DHH KLRC4 MTMR14 COX1 CA2 ND6 GAN PRKAR1A MAGEL2 NDUFS4 MRE11 IQSEC2 HLA-DRB1 HLA-DRB1 MFF NF1 SLC52A2 RETREG1 TRAPPC11 WDR48 TPI1 SCN10A MECP2 LMOD3 MPZ GTF2E2 CHRNA1 ERCC4 CRPPA ATL1 PMP22 CTDP1 PLP1 PMP22 CDKN1A TXN2 POMT1 GRIA3 NAGA SLC25A11 GNAS RET POMT1 FLII PEX1 ARHGEF6 ATP6 LDB3 ERCC3 COA8 CLTCL1 C19ORF12 HSPD1 CCT5 SETX GARS1 ANGPTL6 ERCC5 OSTM1 ASAH1 INS HLA-B TET2 HARS1 DHH
Protein Mutations 0
SNP 0
Protein Mutations 3
G11778A G3460A T14484C
SNP 0
HP:0009830: Peripheral neuropathy
Genes 938
SPG11 TRNK PRICKLE1 ALDH18A1 MAGEL2 SCN9A PET100 SCN9A GNPTAB WASHC5 SCYL1 MAGEL2 CACNA1G SBF1 IARS2 CHAMP1 NTRK1 NGLY1 NAGA DNM2 ND1 FIG4 KCNJ11 HPGD WASHC5 SPG11 MME OCA2 GNA11 DEGS1 PIK3CD ARSA ATXN3 LMNA POLG HLA-DPA1 AARS1 RFC1 KCND3 ATP6 POLG CLCF1 ERCC5 CYP27A1 SIM1 MYD88 TGM1 ATL1 SDHA CAPN1 TARS1 NF1 AP1S1 KARS1 HSPB1 PNKP MORC2 FDX2 BRAF PEX10 PMPCA HINT1 PIK3CA TBC1D20 TWNK ATN1 MTHFR PEX10 HSPB1 HLA-DPB1 GMPPA ATP7A SURF1 ND6 ALAD ACER3 ACOX1 SORD THPO SLC33A1 ATP6 SLC12A6 GRM1 AR TRNW CTLA4 TPP1 SOX10 ERCC3 IGF2 CAV1 KCNJ1 MYF6 ERCC2 NDUFAF6 AMACR FAH ARL6IP1 GALC ERCC1 RASA1 ND5 SNORD115-1 MADD ERCC8 PDYN MKRN3-AS1 LYST PSAP MYOT HPDL LIFR ALS2 FAN1 LDB3 COX15 XK NGLY1 CDKL5 ATXN1 EGR2 C11ORF95 REEP2 FMR1 ATXN8 FLI1 TRIM2 PDYN SCO2 ARSA ERCC2 MPL PMP22 ALDH18A1 ATXN3 ARL6IP1 ELP1 TPP1 NAGLU KMT2A PWRN1 IPW ATXN7 SLC52A2 ND4 POLG GPR101 MAG GJB1 APP MCM3AP COASY C19ORF12 GDAP1 SLC19A3 MARS1 MORC2 SLC25A15 MSH6 MAG MME KRAS KCNJ10 ERCC8 UNC80 MEFV GJC2 HNRNPA2B1 SUCLA2 RNASEH2B MPZ NOTCH3 KCNQ1OT1 AHCY TRNK LAMA2 REEP1 SACS HMBS DMXL2 NTRK1 CYP7B1 NDUFS2 OCA2 PLP1 NOTCH2 ATXN1 ZFYVE26 ERLIN2 CTLA4 RAD21 SLC5A7 SLC5A6 SCYL1 ALMS1 VCP ECHS1 IDUA ND1 SETX PTPN22 DYNC1H1 TRNS2 MAGEL2 SYNGAP1 DYNC1H1 DNASE1L3 DNM2 IL12A-AS1 FBN1 TYMP KIF1C C12ORF65 GPI SPG7 NGF DGUOK STUB1 MTMR2 ATL3 SCN11A TACO1 MME IDUA BSCL2 IL12A POLG2 PEX7 SAR1B SLC18A3 PHYH CLP1 DSE XPC MKRN3 PDCD1 ATAD3A KIF5A GALC DKK1 LIFR PSAP GARS1 VAMP1 PMP22 FXN COX6A1 TWNK DGUOK PMM2 PLD3 AIFM1 SCN9A GBA2 RPIA TTPA OPA1 NDN PEX5 ND2 SLC46A1 GBE1 NTNG1 RAI1 MPL SLC30A10 SHANK3 C12ORF65 COQ7 SLC2A1 XPA RRM2B PEX12 FMR1 SPTLC2 INPP5K CYTB SH3TC2 B2M PNKP MPLKIP PRPS1 NDUFS2 TPI1 WARS1 GNA14 MADD FGF14 HSD17B4 GCDH CD59 CHCHD10 COA7 HK1 CTSD TWNK ATP7B DARS2 ERCC3 ATAD3A SPART GCLC RFC1 HLA-DQB1 PMS1 TBC1D24 POLG SPG21 ATL1 FAM126A MYOT RNF113A HNRNPK ND1 ELOVL5 SEPTIN9 SOX10 TRIP4 IQSEC2 KLC2 CISD2 PNPLA6 POLG DEAF1 DHTKD1 TK2 MPZ MLH1 PEX6 PEX1 KIF1A TRPV4 SERPINI1 KCNJ10 NDUFA2 TYMP RNF168 COX3 BEAN1 COG8 NDUFV2 JAK2 POLG HADHB MTTP SERPING1 ARSA PRKCG SLC12A3 GDAP1 B4GALNT1 TTBK2 HSPB1 NDUFAF3 NDUFAF2 SPTBN2 ERLIN2 KIF1B WFS1 PMP22 STX16 CLCNKB PIGB REEP1 SURF1 PMP22 FBLN5 HMBS ABCC8 SEMA4A RTN2 DMPK PSAP ERCC5 ZFHX2 SURF1 STAT3 PIK3R5 ZFYVE26 PDE4D DHX16 SHANK3 POLR3A TDP1 ZFR CACNA1A ATP1A1 ERCC6 GRIN2A RAB18 FBN1 ATP13A2 AP1S1 SACS GCH1 SBF2 DNMT1 HADHA DDHD1 RAI1 HFE HNRNPK NDUFS2 CDKL5 HSPB8 ZEB2 ATP6 SMC1A ATXN8OS VPS13D ATAD3A ND4 ATXN3 SLC52A3 PMP22 AR SMC3 PNKP PDX1 PDK3 GBA2 CD28 POLG ADA2 YARS1 HNRNPA1 KLHL9 MSTO1 OPA3 ADAR MTRR KIF1A HDAC8 MLH3 SH3TC2 COMP GALC PMP22 SRPX2 PRRT2 GDAP1 KIF1A EGR2 MAPT MFN2 TFG DNAJC3 SCN1A CASR HSD3B7 H19 IFRD1 SNAP29 SPG7 BSCL2 SLC12A1 BIN1 DAB1 WFS1 SELENOI SNAP25 GNAS PRPS1 DMXL2 LITAF AAAS SPTBN4 GCLC MICU1 SETX NGF TRPV4 SERPING1 BTNL2 ABCD1 NALCN ATXN8OS ASCC1 ND6 COX20 BAG3 UCHL1 MEN1 AIFM1 GJB1 GSN ERCC6 PRPS1 DDB2 PHF6 RRM2B PPOX NEFL GJC2 ATP13A2 RAB3GAP2 TTR AARS1 SH2B3 AMACR HADHA RYR1 MFN2 PNPT1 GAN MFN2 HINT1 MPZ NDN HSPD1 PLOD1 MPV17 PSAP TGFBR2 COX3 CPT1C ABHD12 MICU1 NEFL SPAST SCN4A NTRK1 CCT5 CYP27A1 DST PMM2 COX1 IGHMBP2 TIMM8A GABRG2 FUCA1 POLG MYD88 ARSB PEX6 ND4L SCN11A SEPTIN9 FLVCR1 ND2 PMS2 LRSAM1 ND4 POLG CYP7B1 TTR PPOX CA2 RETREG1 NPAP1 NOTCH2NLC APTX EDNRB FGD4 PRKCG KRAS KNSTRN CYTB AP1B1 AP5Z1 SLC5A7 SLC30A10 SPTLC1 CHST14 TRNV RMND1 PIEZO2 SLC2A1 CAPN1 CYP2U1 MARS1 SLC12A3 MFN2 MATR3 GALC AIFM1 SLC25A4 GSN KCNC3 C12ORF65 PDSS1 PRTN3 TFG VPS13A NAGA NDUFA12 TRNS1 TRNH AMPD2 GMPPA ABCD1 ATP1A2 SNRPN DARS2 COASY DEAF1 TREX1 ND4L ND5 IFIH1 MATR3 DNM1L AFG3L2 PRPS1 ND1 NEFH ABCA1 SLC19A2 ND5 NF2 PMP22 AAAS SIL1 ZEB2 C4A GLE1 ACO2 KIF1A TRNQ CTDP1 RAI1 VPS37A COL1A1 ATP6 SNRPN SLC25A19 AGXT PNPLA6 VCP TBC1D24 SLC25A15 DNMT1 ATXN8 MFF XRCC4 SERPING1 ERCC2 SYNE1 ND3 ARSI MSTO1 PDHA1 GLA POLR3B RTN2 MSH2 CUBN HADHB GDAP1 CACNA1A ELOVL5 TBCD PTPN22 RELA TRNF NLRP3 TRPV4 SCN4A NDUFV1 GJC2 RNASEH2A NDUFA13 GABBR2 NDUFA4 REEP1 ABCC8 MPZ DNAJB2 KLC2 MPC1 PEX7 POLR3A IBA57 C19ORF12 STXBP1 ATP5F1E PWAR1 SCP2 AGRN ALAD ERCC4 ATP6 TNXB TBCE POLG NDUFS3 PHYH NIPBL WNK1 LIPT1 NDN SLCO2A1 TRNL1 IDS C12ORF65 VCP PPP2R2B NAGS OCA2 ARSA RPS20 AP5Z1 CACNA1G FLVCR1 PIK3R5 LYST FA2H INSR NDUFA10 ND2 AFG3L2 ADAT3 PEX7 PSAP PDK3 CPOX CPOX PEX11B FGF14 PLEKHG5 NDUFB8 BSCL2 NDUFS7 AEBP1 ERCC6 EPCAM VPS13A SCO2 IL10 NDUFS8 PRKAR1A ATXN2 GCK SPG11 WIPF1 GNA11 TGFB1 DCAF8 NDUFAF5 TNFRSF1B ATXN3 RNASEH1 SNORD116-1 RNASEH2C ELOVL4 SAMD9L VAMP1 TRNW GBA2 GJB1 SGPL1 ND4 RRM2B GARS1 TWNK ERCC4 SMPD1 MPV17 MPZ CCND1 SPAST CRAT SLC2A1 ATP13A2 NEFL PPP2R2B KIF1A GBE1 IDS MED25 OPA1 MYH14 FXN NDRG1 FOXRED1 DDHD1 FLRT1 SPG7 OPA1 JPH1 HSPB3 TFG DNAJC3 SAR1B KCNJ11 CALR SCN10A PRRT2 ALDH18A1 ERCC2 MFN2 COA3 EGR2 IL23R COX2 PRX ABCA1 IARS2 HADHA ND6 XRCC1 UBTF KCNK9 RAI1 HADH SCN9A ALDH18A1 SNRPN TRNE AIFM1 TIMMDC1 PGM3 HARS1 HFE TRNW SLC46A1 MTFMT CHAT MANBA IBA57 CHST14 SLC25A46 TLR4 TUBB3 APTX TBCE RAB7A SLC25A1 RAB3GAP1 MPZ DSTYK KIF5A TMPRSS6 TBP AIFM1 WAS CASR NIPA1 NF2 COX3 NDUFS1 TOP3A SAMHD1 TP53 GDAP1 PMP22 TNFRSF1A MAGEL2 EBF3 CACNA1A DGUOK STAT4 TWNK HK1 BSCL2 MYO9A GTF2H5 COL13A1 GNAS TWNK SETD5 CCR1 UBAC2 PRX NIPA1 AIP BMPR1A FAS MTHFR NDN RNF170 NDUFA9 SYNE1 CBLIF SNAP29 ERAP1 PLEKHG4 TRNL1 INF2 MYH14 TDP1 JAK2 SNRPN DYNC1H1 PRPS1 LYST DMXL2 GNB4 HERC2 ND5 SYT2 GNAS DHH KLRC4 MTMR14 COX1 ND6 GAN MAGEL2 NDUFS4 MRE11 HLA-DRB1 HLA-DRB1 SLC52A2 RETREG1 TRAPPC11 WDR48 SCN10A MECP2 MPZ GTF2E2 ATL1 PMP22 CTDP1 PLP1 PMP22 TXN2 GRIA3 NAGA GNAS FLII ATP6 LDB3 ERCC3 COA8 CLTCL1 C19ORF12 HSPD1 CCT5 SETX GARS1 ERCC5 OSTM1 INS HLA-B TET2 HARS1 DHH
Protein Mutations 0
SNP 0