Gene Panel Examiner and Universal Gene ID Mapper

Input HGNC Approved Gene Symbols, Refseq Gene Symbols, Entrez Gene IDs, Ensembl Gene IDs, Refseq Accession, OMIM, UniProt, CCDS, VEGA, or UCSC IDs

File name prefix:   

*Note: Input can be a mixture of IDs from different sources. This tool maps them to HGNC genes by searching against each of these sources: HGNC Approved Gene Symbols and IDs, Refseq Gene Symbols, Entrez Gene IDs, Ensembl Gene IDs, Refseq Accession, OMIM, UniProt, CCDS, VEGA, or UCSC IDs (HGNC version 2017-08-10).

*Note: HGNC Approved Gene Symbols and Ensembl Gene IDs are the only fully supported input due to complexity in mapping of different gene ID systems. It is recommended that the users first map own input to them using this tool iteratively, or 3rd party tool.



Please save the BED (GRCh37, p13) file for the genes at Samplename6.bed , full data at Samplename6.tab.txt

BED file preview:


Your input genes (38):
POLG, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY

Genes matched to HGNC approved symbols (38):
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, POLG
Genes without position information from Ensembl GRCh37_p13 or UCSC RefGene (hg19):

Input entries not matched in HGNC yet: .
Further COMPARE with your original gene list to find any not matched.

Per gene details
1. MT-TF Portal Exome E ENSG00000210049 G GTR H LSDB OMIM N

Variants: 18(18) LSDB, HGMD: , ClinVar: 7
Gene region M:577..647

HGNC Gene: MT-TF, mitochondrially encoded tRNA phenylalanine; Alias_symbol: trnF; Previous_Symbols: MTTF; ensembl_gene_id; ENSG00000210049; Refseq accession: ; OMIM ID: 590070; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

Mitochondrial Disease: MELAS SYNDROME, MERRF
2. MT-RNR1 Portal Exome E ENSG00000211459 G GTR H LSDB OMIM N

Variants: 108(108) LSDB, HGMD: , ClinVar: 49
Gene region M:648..1601

HGNC Gene: MT-RNR1, mitochondrially encoded 12S RNA; Alias_symbol: 12S; Previous_Symbols: MTRNR1; ensembl_gene_id; ENSG00000211459; Refseq accession: ; OMIM ID: 561000; CCDS_ids: ; VEGA_ids: ; uniprot_ids: A0A0C5B5G6

Mitochondrial Disease: 500008, 580000
3. MT-TV Portal Exome E ENSG00000210077 G GTR H LSDB OMIM N

Variants: 12(12) LSDB, HGMD: , ClinVar: 5
Gene region M:1602..1670

HGNC Gene: MT-TV, mitochondrially encoded tRNA valine; Alias_symbol: trnV; Previous_Symbols: MTTV; ensembl_gene_id; ENSG00000210077; Refseq accession: ; OMIM ID: 590105; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

4. MT-RNR2 Portal Exome E ENSG00000210082 G GTR H LSDB OMIM N

Variants: 104(104) LSDB, HGMD: , ClinVar: 6
Gene region M:1671..3229

HGNC Gene: MT-RNR2, mitochondrially encoded 16S RNA; Alias_symbol: HN|16S; Previous_Symbols: MTRNR2; ensembl_gene_id; ENSG00000210082; Refseq accession: NC_012920; OMIM ID: 561010; CCDS_ids: ; VEGA_ids: ; uniprot_ids: Q8IVG9

Mitochondrial Disease: 515000
5. MT-TL1 Portal Exome E ENSG00000209082 G GTR H LSDB OMIM N

Variants: 34(34) LSDB, HGMD: , ClinVar: 14
Gene region M:3230..3304

HGNC Gene: MT-TL1, mitochondrially encoded tRNA leucine 1 (UUA/G); Alias_symbol: TRNL1; Previous_Symbols: MTTL1; ensembl_gene_id; ENSG00000209082; Refseq accession: ; OMIM ID: 590050; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

Mitochondrial Disease: 220110, CVS, KSS, MELAS SYNDROME, MERRF, MIDD
6. MT-ND1 Portal Exome E ENSG00000198888 G GTR H LSDB OMIM N

Variants: 87(87) LSDB, HGMD: , ClinVar: 41
Gene region M:3307..4262

HGNC Gene: MT-ND1, mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1; Alias_symbol: ND1|NAD1; Previous_Symbols: MTND1; ensembl_gene_id; ENSG00000198888; Refseq accession: YP_003024026; OMIM ID: 516000; CCDS_ids: ; VEGA_ids: ; uniprot_ids: P03886

Mitochondrial Disease: 252010, 500008, LDYT, LHON, MELAS SYNDROME
7. MT-TI Portal Exome E ENSG00000210100 G GTR H LSDB OMIM N

Variants: 22(22) LSDB, HGMD: , ClinVar: 12
Gene region M:4263..4331

HGNC Gene: MT-TI, mitochondrially encoded tRNA isoleucine; Alias_symbol: trnI; Previous_Symbols: MTTI; ensembl_gene_id; ENSG00000210100; Refseq accession: ; OMIM ID: 590045; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

Mitochondrial Disease: 500005, 500008
8. MT-TQ Portal Exome E ENSG00000210107 G GTR H LSDB OMIM N

Variants: 16(16) LSDB, HGMD: , ClinVar: 5
Gene region M:4329..4400

HGNC Gene: MT-TQ, mitochondrially encoded tRNA glutamine; Alias_symbol: trnQ; Previous_Symbols: MTTQ; ensembl_gene_id; ENSG00000210107; Refseq accession: ; OMIM ID: 590030; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

Mitochondrial Disease: MELAS SYNDROME
9. MT-TM Portal Exome E ENSG00000210112 G GTR H LSDB OMIM N

Variants: 8(8) LSDB, HGMD: , ClinVar: 1
Gene region M:4402..4469

HGNC Gene: MT-TM, mitochondrially encoded tRNA methionine; Alias_symbol: trnM; Previous_Symbols: MTTM; ensembl_gene_id; ENSG00000210112; Refseq accession: ; OMIM ID: 590065; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

Mitochondrial Disease: CPEO,CPEO Plus
10. MT-ND2 Portal Exome E ENSG00000198763 G GTR H LSDB OMIM N

Variants: 49(49) LSDB, HGMD: , ClinVar: 16
Gene region M:4470..5511

HGNC Gene: MT-ND2, mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2; Alias_symbol: ND2|NAD2; Previous_Symbols: MTND2; ensembl_gene_id; ENSG00000198763; Refseq accession: YP_003024027; OMIM ID: 516001; CCDS_ids: ; VEGA_ids: ; uniprot_ids: P03891

Mitochondrial Disease: 252010, LHON
11. MT-TW Portal Exome E ENSG00000210117 G GTR H LSDB OMIM N

Variants: 16(16) LSDB, HGMD: , ClinVar: 9
Gene region M:5512..5579

HGNC Gene: MT-TW, mitochondrially encoded tRNA tryptophan; Alias_symbol: trnW; Previous_Symbols: MTTW; ensembl_gene_id; ENSG00000210117; Refseq accession: ; OMIM ID: 590095; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

Mitochondrial Disease: CPEO,CPEO Plus, LS
12. MT-TA Portal Exome E ENSG00000210127 G GTR H LSDB OMIM N

Variants: 6(6) LSDB, HGMD: , ClinVar: 4
Gene region M:5587..5655

HGNC Gene: MT-TA, mitochondrially encoded tRNA alanine; Alias_symbol: trnA; Previous_Symbols: MTTA; ensembl_gene_id; ENSG00000210127; Refseq accession: ; OMIM ID: 590000; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

Mitochondrial Disease: CPEO,CPEO Plus
13. MT-TN Portal Exome E ENSG00000210135 G GTR H LSDB OMIM N

Variants: 7(7) LSDB, HGMD: , ClinVar: 3
Gene region M:5657..5729

HGNC Gene: MT-TN, mitochondrially encoded tRNA asparagine; Alias_symbol: trnN; Previous_Symbols: MTTN; ensembl_gene_id; ENSG00000210135; Refseq accession: ; OMIM ID: 590010; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

Mitochondrial Disease: 220110, 252010
14. MT-TC Portal Exome E ENSG00000210140 G GTR H LSDB OMIM N

Variants: 10(10) LSDB, HGMD: , ClinVar: 2
Gene region M:5761..5826

HGNC Gene: MT-TC, mitochondrially encoded tRNA cysteine; Alias_symbol: trnC; Previous_Symbols: MTTC; ensembl_gene_id; ENSG00000210140; Refseq accession: ; OMIM ID: 590020; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

Mitochondrial Disease: MELAS SYNDROME
15. MT-TY Portal Exome E ENSG00000210144 G GTR H LSDB OMIM N

Variants: 5(5) LSDB, HGMD: , ClinVar: 4
Gene region M:5826..5891

HGNC Gene: MT-TY, mitochondrially encoded tRNA tyrosine; Alias_symbol: trnY; Previous_Symbols: MTTY; ensembl_gene_id; ENSG00000210144; Refseq accession: ; OMIM ID: 590100; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

16. MT-CO1 Portal Exome E ENSG00000198804 G GTR H LSDB OMIM N

Variants: 82(82) LSDB, HGMD: , ClinVar: 22
Gene region M:5904..7445

HGNC Gene: MT-CO1, mitochondrially encoded cytochrome c oxidase I; Alias_symbol: COX1|COI; Previous_Symbols: MTCO1; ensembl_gene_id; ENSG00000198804; Refseq accession: YP_003024028; OMIM ID: 516030; CCDS_ids: ; VEGA_ids: ; uniprot_ids: P00395

Mitochondrial Disease: 220110, 550500, 580000
17. MT-TS1 Portal Exome E ENSG00000210151 G GTR H LSDB OMIM N

Variants: 23(23) LSDB, HGMD: , ClinVar: 17
Gene region M:7446..7514

HGNC Gene: MT-TS1, mitochondrially encoded tRNA serine 1 (UCN); Alias_symbol: TRNS1; Previous_Symbols: MTTS1; ensembl_gene_id; ENSG00000210151; Refseq accession: ; OMIM ID: 590080; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

Mitochondrial Disease: 500008, MELAS SYNDROME, MERRF
18. MT-TD Portal Exome E ENSG00000210154 G GTR H LSDB OMIM N

Variants: 8(8) LSDB, HGMD: , ClinVar: 1
Gene region M:7518..7585

HGNC Gene: MT-TD, mitochondrially encoded tRNA aspartic acid; Alias_symbol: trnD; Previous_Symbols: MTTD; ensembl_gene_id; ENSG00000210154; Refseq accession: ; OMIM ID: 590015; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

19. MT-CO2 Portal Exome E ENSG00000198712 G GTR H LSDB OMIM N

Variants: 36(36) LSDB, HGMD: , ClinVar: 13
Gene region M:7586..8269

HGNC Gene: MT-CO2, mitochondrially encoded cytochrome c oxidase II; Alias_symbol: COX2|CO2; Previous_Symbols: MTCO2; ensembl_gene_id; ENSG00000198712; Refseq accession: YP_003024029; OMIM ID: 516040; CCDS_ids: ; VEGA_ids: ; uniprot_ids: P00403

Mitochondrial Disease: 220110
20. MT-TK Portal Exome E ENSG00000210156 G GTR H LSDB OMIM N

Variants: 23(23) LSDB, HGMD: , ClinVar: 7
Gene region M:8295..8364

HGNC Gene: MT-TK, mitochondrially encoded tRNA lysine; Alias_symbol: trnK; Previous_Symbols: MERRF|MTTK; ensembl_gene_id; ENSG00000210156; Refseq accession: ; OMIM ID: 590060; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

Mitochondrial Disease: 556500, LS, MELAS SYNDROME, MERRF, MIDD, MTDPS1
21. MT-ATP8 Portal Exome E ENSG00000228253 G GTR H LSDB OMIM N

Variants: 12(12) LSDB, HGMD: , ClinVar: 5
Gene region M:8366..8572

HGNC Gene: MT-ATP8, mitochondrially encoded ATP synthase 8; Alias_symbol: ATP8|A6L; Previous_Symbols: MTATP8; ensembl_gene_id; ENSG00000228253; Refseq accession: YP_003024030; OMIM ID: 516070; CCDS_ids: ; VEGA_ids: ; uniprot_ids: P03928

22. MT-ATP6 Portal Exome E ENSG00000198899 G GTR H LSDB OMIM N

Variants: 66(66) LSDB, HGMD: , ClinVar: 29
Gene region M:8527..9207

HGNC Gene: MT-ATP6, mitochondrially encoded ATP synthase 6; Alias_symbol: ATP6|ATPase-6|Su6m; Previous_Symbols: MTATP6|RP; ensembl_gene_id; ENSG00000198899; Refseq accession: YP_003024031; OMIM ID: 516060; CCDS_ids: ; VEGA_ids: ; uniprot_ids: P00846

Mitochondrial Disease: 500003, LHON, LS, MTATP6, NARP SYNDROME
23. MT-CO3 Portal Exome E ENSG00000198938 G GTR H LSDB OMIM N

Variants: 54(54) LSDB, HGMD: , ClinVar: 17
Gene region M:9207..9990

HGNC Gene: MT-CO3, mitochondrially encoded cytochrome c oxidase III; Alias_symbol: COX3|COIII|CO3; Previous_Symbols: MTCO3; ensembl_gene_id; ENSG00000198938; Refseq accession: YP_003024032; OMIM ID: 516050; CCDS_ids: ; VEGA_ids: ; uniprot_ids: P00414

Mitochondrial Disease: 220110, LHON
24. MT-TG Portal Exome E ENSG00000210164 G GTR H LSDB OMIM N

Variants: 10(10) LSDB, HGMD: , ClinVar: 4
Gene region M:9991..10058

HGNC Gene: MT-TG, mitochondrially encoded tRNA glycine; Alias_symbol: trnG; Previous_Symbols: MTTG; ensembl_gene_id; ENSG00000210164; Refseq accession: ; OMIM ID: 590035; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

25. MT-ND3 Portal Exome E ENSG00000198840 G GTR H LSDB OMIM N

Variants: 24(24) LSDB, HGMD: , ClinVar: 10
Gene region M:10059..10404

HGNC Gene: MT-ND3, mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3; Alias_symbol: ND3|NAD3; Previous_Symbols: MTND3; ensembl_gene_id; ENSG00000198840; Refseq accession: YP_003024033; OMIM ID: 516002; CCDS_ids: ; VEGA_ids: ; uniprot_ids: P03897

Mitochondrial Disease: 252010, LDYT
26. MT-TR Portal Exome E ENSG00000210174 G GTR H LSDB OMIM N

Variants: 7(7) LSDB, HGMD: , ClinVar: 2
Gene region M:10405..10469

HGNC Gene: MT-TR, mitochondrially encoded tRNA arginine; Alias_symbol: trnR; Previous_Symbols: MTTR; ensembl_gene_id; ENSG00000210174; Refseq accession: ; OMIM ID: 590005; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

27. MT-ND4L Portal Exome E ENSG00000212907 G GTR H LSDB OMIM N

Variants: 22(22) LSDB, HGMD: , ClinVar: 4
Gene region M:10470..10766

HGNC Gene: MT-ND4L, mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L; Alias_symbol: ND4L|NAD4L; Previous_Symbols: MTND4L; ensembl_gene_id; ENSG00000212907; Refseq accession: YP_003024034; OMIM ID: 516004; CCDS_ids: ; VEGA_ids: ; uniprot_ids: P03901

28. MT-ND4 Portal Exome E ENSG00000198886 G GTR H LSDB OMIM N

Variants: 73(73) LSDB, HGMD: , ClinVar: 16
Gene region M:10760..12137

HGNC Gene: MT-ND4, mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4; Alias_symbol: ND4|NAD4; Previous_Symbols: MTND4|LHON; ensembl_gene_id; ENSG00000198886; Refseq accession: YP_003024035; OMIM ID: 516003; CCDS_ids: ; VEGA_ids: ; uniprot_ids: P03905

Mitochondrial Disease: 252010, LDYT, LHON, MELAS SYNDROME
29. MT-TH Portal Exome E ENSG00000210176 G GTR H LSDB OMIM N

Variants: 9(9) LSDB, HGMD: , ClinVar: 6
Gene region M:12138..12206

HGNC Gene: MT-TH, mitochondrially encoded tRNA histidine; Alias_symbol: trnH; Previous_Symbols: MTTH; ensembl_gene_id; ENSG00000210176; Refseq accession: ; OMIM ID: 590040; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

Mitochondrial Disease: 500008, MELAS SYNDROME, MERRF
30. MT-TS2 Portal Exome E ENSG00000210184 G GTR H LSDB OMIM N

Variants: 11(11) LSDB, HGMD: , ClinVar: 3
Gene region M:12207..12265

HGNC Gene: MT-TS2, mitochondrially encoded tRNA serine 2 (AGU/C); Alias_symbol: TRNS2|RP8; Previous_Symbols: MTTS2; ensembl_gene_id; ENSG00000210184; Refseq accession: ; OMIM ID: 590085; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

Mitochondrial Disease: 500004, MELAS SYNDROME, MERRF
31. MT-TL2 Portal Exome E ENSG00000210191 G GTR H LSDB OMIM N

Variants: 14(14) LSDB, HGMD: , ClinVar: 5
Gene region M:12266..12336

HGNC Gene: MT-TL2, mitochondrially encoded tRNA leucine 2 (CUN); Alias_symbol: TRNL2; Previous_Symbols: MTTL2; ensembl_gene_id; ENSG00000210191; Refseq accession: ; OMIM ID: 590055; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

Mitochondrial Disease: CPEO,CPEO Plus
32. MT-ND5 Portal Exome E ENSG00000198786 G GTR H LSDB OMIM N

Variants: 135(135) LSDB, HGMD: , ClinVar: 28
Gene region M:12337..14148

HGNC Gene: MT-ND5, mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5; Alias_symbol: ND5|NAD5; Previous_Symbols: MTND5; ensembl_gene_id; ENSG00000198786; Refseq accession: YP_003024036; OMIM ID: 516005; CCDS_ids: ; VEGA_ids: ; uniprot_ids: P03915

Mitochondrial Disease: LHON, MELAS SYNDROME, MERRF
33. MT-ND6 Portal Exome E ENSG00000198695 G GTR H LSDB OMIM N

Variants: 43(43) LSDB, HGMD: , ClinVar: 21
Gene region M:14149..14673

HGNC Gene: MT-ND6, mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6; Alias_symbol: NAD6|ND6; Previous_Symbols: MTND6; ensembl_gene_id; ENSG00000198695; Refseq accession: YP_003024037; OMIM ID: 516006; CCDS_ids: ; VEGA_ids: ; uniprot_ids: P03923

Mitochondrial Disease: 553000, LDYT, LHON, MELAS SYNDROME
34. MT-TE Portal Exome E ENSG00000210194 G GTR H LSDB OMIM N

Variants: 12(12) LSDB, HGMD: , ClinVar: 6
Gene region M:14674..14742

HGNC Gene: MT-TE, mitochondrially encoded tRNA glutamic acid; Alias_symbol: trnE; Previous_Symbols: MTTE; ensembl_gene_id; ENSG00000210194; Refseq accession: ; OMIM ID: 590025; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

Mitochondrial Disease: 500002, MIDD, MMIT
35. MT-CYB Portal Exome E ENSG00000198727 G GTR H LSDB OMIM N

Variants: 90(90) LSDB, HGMD: , ClinVar: 84
Gene region M:14747..15887

HGNC Gene: MT-CYB, mitochondrially encoded cytochrome b; Alias_symbol: COB|CYTB|UQCR3; Previous_Symbols: MTCYB; ensembl_gene_id; ENSG00000198727; Refseq accession: YP_003024038; OMIM ID: 516020; CCDS_ids: ; VEGA_ids: ; uniprot_ids: P00156

Mitochondrial Disease: 500000, 601665, LHON, MTCYB
36. MT-TT Portal Exome E ENSG00000210195 G GTR H LSDB OMIM N

Variants: 21(21) LSDB, HGMD: , ClinVar: 6
Gene region M:15888..15953

HGNC Gene: MT-TT, mitochondrially encoded tRNA threonine; Alias_symbol: trnT; Previous_Symbols: MTTT|LIMM; ensembl_gene_id; ENSG00000210195; Refseq accession: ; OMIM ID: 590090; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

37. MT-TP Portal Exome E ENSG00000210196 G GTR H LSDB OMIM N

Variants: 9(9) LSDB, HGMD: , ClinVar: 3
Gene region M:15956..16023

HGNC Gene: MT-TP, mitochondrially encoded tRNA proline; Alias_symbol: trnP; Previous_Symbols: MTTP; ensembl_gene_id; ENSG00000210196; Refseq accession: ; OMIM ID: 590075; CCDS_ids: ; VEGA_ids: ; uniprot_ids:

38. POLG Portal Exome E ENSG00000140521 G GTR H LSDB OMIM N

Variants: 210(209) LSDB, HGMD: 277, ClinVar: 464
Gene region 15:89859534..89878092

HGNC Gene: POLG, DNA polymerase gamma, catalytic subunit; Alias_symbol: POLG1|POLGA; Previous_Symbols: ; ensembl_gene_id; ENSG00000140521; Refseq accession: NM_002693; OMIM ID: 174763; CCDS_ids: CCDS10350; VEGA_ids: OTTHUMG00000149646; uniprot_ids: P54098

Mitochondrial Disease: 258450, MTDPS1, MTDPS4A, MTDPS4B, PEOA1, SANDOOMIM 258450; MeSH: C1850303; Progressive external ophthalmoplegia, autosomal recessive, 258450 OMIM 157640; MeSH: C1834846; Progressive external ophthalmoplegia, autosomal dominant, 157640; PEOA1 OMIM 607459; MeSH: C1843851; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; SANDO OMIM 613662; MeSH: C3150914; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; MTDPS4B OMIM 203700; MeSH: C0205710; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; MTDPS4A



Per gene details in table of one row per gene :
SNGeneGene_other_linksGene DescriptionHGMDClinVarDisease
1. MT-TF Portal Exome E ENSG00000210049 G GTR H LSDB OMIM N 7Mitochondrial Disease: MELAS SYNDROME, MERRF
2. MT-RNR1 Portal Exome E ENSG00000211459 G GTR H LSDB OMIM N 49Mitochondrial Disease: 500008, 580000
3. MT-TV Portal Exome E ENSG00000210077 G GTR H LSDB OMIM N 5
4. MT-RNR2 Portal Exome E ENSG00000210082 G GTR H LSDB OMIM N 6Mitochondrial Disease: 515000
5. MT-TL1 Portal Exome E ENSG00000209082 G GTR H LSDB OMIM N 14Mitochondrial Disease: 220110, CVS, KSS, MELAS SYNDROME, MERRF, MIDD
6. MT-ND1 Portal Exome E ENSG00000198888 G GTR H LSDB OMIM N 41Mitochondrial Disease: 252010, 500008, LDYT, LHON, MELAS SYNDROME
7. MT-TI Portal Exome E ENSG00000210100 G GTR H LSDB OMIM N 12Mitochondrial Disease: 500005, 500008
8. MT-TQ Portal Exome E ENSG00000210107 G GTR H LSDB OMIM N 5Mitochondrial Disease: MELAS SYNDROME
9. MT-TM Portal Exome E ENSG00000210112 G GTR H LSDB OMIM N 1Mitochondrial Disease: CPEO,CPEO Plus
10. MT-ND2 Portal Exome E ENSG00000198763 G GTR H LSDB OMIM N 16Mitochondrial Disease: 252010, LHON
11. MT-TW Portal Exome E ENSG00000210117 G GTR H LSDB OMIM N 9Mitochondrial Disease: CPEO,CPEO Plus, LS
12. MT-TA Portal Exome E ENSG00000210127 G GTR H LSDB OMIM N 4Mitochondrial Disease: CPEO,CPEO Plus
13. MT-TN Portal Exome E ENSG00000210135 G GTR H LSDB OMIM N 3Mitochondrial Disease: 220110, 252010
14. MT-TC Portal Exome E ENSG00000210140 G GTR H LSDB OMIM N 2Mitochondrial Disease: MELAS SYNDROME
15. MT-TY Portal Exome E ENSG00000210144 G GTR H LSDB OMIM N 4
16. MT-CO1 Portal Exome E ENSG00000198804 G GTR H LSDB OMIM N 22Mitochondrial Disease: 220110, 550500, 580000
17. MT-TS1 Portal Exome E ENSG00000210151 G GTR H LSDB OMIM N 17Mitochondrial Disease: 500008, MELAS SYNDROME, MERRF
18. MT-TD Portal Exome E ENSG00000210154 G GTR H LSDB OMIM N 1
19. MT-CO2 Portal Exome E ENSG00000198712 G GTR H LSDB OMIM N 13Mitochondrial Disease: 220110
20. MT-TK Portal Exome E ENSG00000210156 G GTR H LSDB OMIM N 7Mitochondrial Disease: 556500, LS, MELAS SYNDROME, MERRF, MIDD, MTDPS1
21. MT-ATP8 Portal Exome E ENSG00000228253 G GTR H LSDB OMIM N 5
22. MT-ATP6 Portal Exome E ENSG00000198899 G GTR H LSDB OMIM N 29Mitochondrial Disease: 500003, LHON, LS, MTATP6, NARP SYNDROME
23. MT-CO3 Portal Exome E ENSG00000198938 G GTR H LSDB OMIM N 17Mitochondrial Disease: 220110, LHON
24. MT-TG Portal Exome E ENSG00000210164 G GTR H LSDB OMIM N 4
25. MT-ND3 Portal Exome E ENSG00000198840 G GTR H LSDB OMIM N 10Mitochondrial Disease: 252010, LDYT
26. MT-TR Portal Exome E ENSG00000210174 G GTR H LSDB OMIM N 2
27. MT-ND4L Portal Exome E ENSG00000212907 G GTR H LSDB OMIM N 4
28. MT-ND4 Portal Exome E ENSG00000198886 G GTR H LSDB OMIM N 16Mitochondrial Disease: 252010, LDYT, LHON, MELAS SYNDROME
29. MT-TH Portal Exome E ENSG00000210176 G GTR H LSDB OMIM N 6Mitochondrial Disease: 500008, MELAS SYNDROME, MERRF
30. MT-TS2 Portal Exome E ENSG00000210184 G GTR H LSDB OMIM N 3Mitochondrial Disease: 500004, MELAS SYNDROME, MERRF
31. MT-TL2 Portal Exome E ENSG00000210191 G GTR H LSDB OMIM N 5Mitochondrial Disease: CPEO,CPEO Plus
32. MT-ND5 Portal Exome E ENSG00000198786 G GTR H LSDB OMIM N 28Mitochondrial Disease: LHON, MELAS SYNDROME, MERRF
33. MT-ND6 Portal Exome E ENSG00000198695 G GTR H LSDB OMIM N 21Mitochondrial Disease: 553000, LDYT, LHON, MELAS SYNDROME
34. MT-TE Portal Exome E ENSG00000210194 G GTR H LSDB OMIM N 6Mitochondrial Disease: 500002, MIDD, MMIT
35. MT-CYB Portal Exome E ENSG00000198727 G GTR H LSDB OMIM N 84Mitochondrial Disease: 500000, 601665, LHON, MTCYB
36. MT-TT Portal Exome E ENSG00000210195 G GTR H LSDB OMIM N 6
37. MT-TP Portal Exome E ENSG00000210196 G GTR H LSDB OMIM N 3
38. POLG Portal Exome E ENSG00000140521 G GTR H LSDB OMIM N 277464Mitochondrial Disease: 258450, MTDPS1, MTDPS4A, MTDPS4B, PEOA1, SANDOOMIM 258450; MeSH: C1850303; Progressive external ophthalmoplegia, autosomal recessive, 258450 OMIM 157640; MeSH: C1834846; Progressive external ophthalmoplegia, autosomal dominant, 157640; PEOA1 OMIM 607459; MeSH: C1843851; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; SANDO OMIM 613662; MeSH: C3150914; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; MTDPS4B OMIM 203700; MeSH: C0205710; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; MTDPS4A