Excel File Text File *Disease is associated/modeled with this Gene or a homolog. More...
      Disease Term Human Homologs Mouse Homologs Mouse Models Homology Source
     cytochrome-c oxidase deficiency disease SCO1* Sco1* 1 model Alliance of Genome Resources
cytochrome-c oxidase deficiency disease SCO2* Sco2* 1 model Alliance of Genome Resources
deafness-dystonia-optic neuronopathy syndrome TIMM8A* Timm8a1* 1 model Alliance of Genome Resources
ethylmalonic encephalopathy ETHE1* Ethe1* 1 model Alliance of Genome Resources
GRACILE syndrome BCS1L* Bcs1l* 1 model Alliance of Genome Resources
Leigh disease NDUFS4* Ndufs4* 3 models Alliance of Genome Resources
Leigh disease SURF1* Surf1* 1 model Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 1 BCS1L* Bcs1l* 1 model Alliance of Genome Resources
mitochondrial DNA depletion syndrome 2 TK2* Tk2* 1 model Alliance of Genome Resources
mitochondrial DNA depletion syndrome 5 SUCLA2* Sucla2* 1 model Alliance of Genome Resources
mitochondrial DNA depletion syndrome 7 TWNK* Twnk* 1 model Alliance of Genome Resources
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency ECHS1* Echs1* 1 model Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 20 ACAD9* Acad9* 2 models Alliance of Genome Resources
primary coenzyme Q10 deficiency 4 COQ8A* Coq8a* 1 model Alliance of Genome Resources
     coenzyme Q10 deficiency disease PDSS2 Pdss2* 1 model Alliance of Genome Resources
coenzyme Q10 deficiency disease COQ9 Coq9* 1 model Alliance of Genome Resources
combined oxidative phosphorylation deficiency MTO1 Mto1* 1 model Alliance of Genome Resources
cytochrome-c oxidase deficiency disease COX10 Cox10* 1 model Alliance of Genome Resources
Leigh disease SOD2 Sod2* 1 model Alliance of Genome Resources
Leigh disease SDHC Sdhc* 1 model Alliance of Genome Resources
Leigh disease PARL Parl* 2 models Alliance of Genome Resources
mitochondrial complex I deficiency NDUFS4 Ndufs4* 1 model Alliance of Genome Resources
mitochondrial complex I deficiency NDUFS6 Ndufs6* 1 model Alliance of Genome Resources
mitochondrial complex I deficiency AIFM1 Aifm1* 2 models Alliance of Genome Resources
mitochondrial complex I deficiency NDUFA1 Ndufa1* 1 model Alliance of Genome Resources
mitochondrial DNA depletion syndrome TWNK Twnk* 1 model Alliance of Genome Resources
mitochondrial DNA depletion syndrome 3 MPV17 Mpv17* 1 model Alliance of Genome Resources
mitochondrial metabolism disease UQCRFS1, UQCRFS1P1 Uqcrfs1* 1 model Alliance of Genome Resources
mitochondrial metabolism disease TRNK mt-Tk* 1 model Alliance of Genome Resources
     Alpers-Huttenlocher syndrome POLG* Polg   Alliance of Genome Resources
combined oxidative phosphorylation deficiency MRPL39* Mrpl39   Alliance of Genome Resources
combined oxidative phosphorylation deficiency TEFM* Tefm   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 1 GFM1* Gfm1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 10 MTO1* Mto1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 11 RMND1* Rmnd1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 12 EARS2* Ears2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 13 PNPT1* Pnpt1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 14 FARS2* Fars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 15 MTFMT* Mtfmt   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 16 MRPL44* Mrpl44   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 17 ELAC2* Elac2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 18 SFXN4* Sfxn4   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 19 LYRM4* Lyrm4   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 2 MRPS16* Mrps16   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 20 VARS2* Vars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 21 TARS2* Tars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 22 ATP5F1A* Atp5f1a   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 23 GTPBP3* Gtpbp3   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 24 NARS2* Nars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 25 MARS2* Mars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 26 TRMT5* Trmt5   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 27 CARS2* Cars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 28 SLC25A26* Slc25a26   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 29 TXN2* Txn2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 3 TSFM* Tsfm   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 30 TRMT10C* Trmt10c   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 31 MIPEP* Mipep   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 32 MRPS34* Mrps34   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 33 C1QBP* C1qbp   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 34 MRPS7* Mrps7   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 35 TRIT1* Trit1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 36 MRPS2* Mrps2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 37 MICOS13* Micos13   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 38 MRPS14* Mrps14   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 39 GFM2* Gfm2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 4 TUFM* Tufm   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 40 QRSL1* Qrsl1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 41 GATB* Gatb   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 42 GATC* Gatc   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 43 TIMM22* Timm22   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 44 FASTKD2* Fastkd2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 45 MRPL12* Mrpl12   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 46 MRPS23* Mrps23   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 47 MRPS28* Mrps28   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 48 NSUN3* Nsun3   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 49 MIEF2* Mief2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 5 MRPS22* Mrps22   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 50 MRPS25* Mrps25   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 51 PTCD3* Ptcd3   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 52 NFS1* Nfs1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 53 C2orf69* 1700066M21Rik   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 54 PRORP* Prorp   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 55 POLRMT* Polrmt   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 56 TAMM41* Tamm41   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 57 CRLS1* Crls1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 6 AIFM1* Aifm1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 7 MTRFR* Mtrfr   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 8 AARS2* Aars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 9 MRPL3* Mrpl3   Alliance of Genome Resources
French Canadian Leigh disease LRPPRC* Lrpprc   Alliance of Genome Resources
Leigh disease NDUFS2* Ndufs2   Alliance of Genome Resources
Leigh disease COX15* Cox15   Alliance of Genome Resources
Leigh disease LRPPRC* Lrpprc   Alliance of Genome Resources
Leigh disease ND3* mt-Nd3   Alliance of Genome Resources
Leigh disease ND5* mt-Nd5   Alliance of Genome Resources
Leigh disease ND6* mt-Nd6   Alliance of Genome Resources
Leigh disease SDHA* Sdha   Alliance of Genome Resources
mitochondrial complex I deficiency NDUFS1* Ndufs1   Alliance of Genome Resources
mitochondrial complex II deficiency SDHA* Sdha   Alliance of Genome Resources
mitochondrial complex II deficiency SDHB* Sdhb   Alliance of Genome Resources
mitochondrial complex II deficiency SDHAF1* Sdhaf1   Alliance of Genome Resources
mitochondrial complex II deficiency SDHD* Sdhd   Alliance of Genome Resources
mitochondrial complex III deficiency UQCRH*, UQCRHL Uqcrh   Alliance of Genome Resources
mitochondrial complex III deficiency UQCRFS1*, UQCRFS1P1 Uqcrfs1   Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 2 TTC19* Ttc19   Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 3 UQCRB* Uqcrb   Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 4 UQCRQ* Uqcrq   Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 5 UQCRC2* Uqcrc2   Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 6 CYC1* Cyc1   Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 7 UQCC2* Uqcc2   Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 8 LYRM7* Lyrm7   Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 9 UQCC3* Uqcc3   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 1 SURF1* Surf1   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 10 COX14* Cox14   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 11 COX20* Cox20   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 12 PET100* Pet100   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 13 COA6* Coa6   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 14 COA3* Coa3   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 15 COX8A* Cox8a   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 16 COX4I1* Cox4i1   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 17 COA8* Coa8   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 18 COX6A2* Cox6a2   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 19 PET117* Pet117   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 2 SCO2* Sco2   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 20 COX5A* Cox5a   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 21 COXFA4* Coxfa4   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 22 COX16* Cox16   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 23 COX11* Cox11   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 3 COX10* Cox10   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 4 SCO1* Sco1   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 6 COX15* Cox15   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 7 COX6B1* Cox6b1   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 8 TACO1* Taco1   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 9 COA5* Coa5   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 1 ATPAF2* Atpaf2   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 2 TMEM70* Tmem70   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ATP5F1E*, ATP5F1EP2 Atp5f1e   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A ATP5F1A* Atp5f1a   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B ATP5F1A* Atp5f1a   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 5 ATP5F1D* Atp5f1d   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 6 ATP5MK* Atp5mk   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 7 ATP5PO* Atp5po   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 1 TYMP* Tymp 1 model Alliance of Genome Resources
mitochondrial DNA depletion syndrome 11 MGME1* Mgme1   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 12a SLC25A4* Slc25a4   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 12b SLC25A4* Slc25a4   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 13 FBXL4* Fbxl4   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 14 OPA1* Opa1   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 15 TFAM* Tfam   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 16 POLG2* Polg2   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 16B POLG2* Polg2   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 17 MRM2* Mrm2   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 18 SLC25A21* Slc25a21   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 19 SLC25A10* Slc25a10   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 20 LIG3* Lig3   Alliance of Genome Resources
mitochondrial DNA depletion syndrome-21 GUK1* Guk1   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 3 DGUOK* Dguok   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 4b POLG* Polg   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 6 MPV17* Mpv17   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 8a RRM2B* Rrm2b   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 8b RRM2B* Rrm2b   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 9 SUCLG1* Suclg1   Alliance of Genome Resources
mitochondrial metabolism disease HADHB* Hadhb   Alliance of Genome Resources
mitochondrial metabolism disease MCCC2* Mccc2   Alliance of Genome Resources
mitochondrial metabolism disease DGUOK* Dguok   Alliance of Genome Resources
mitochondrial pyruvate carrier deficiency MPC1* Mpc1   Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome GCSH* Gcsh   Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 1 NFU1* Nfu1   Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 2 BOLA3* Bola3   Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 3 IBA57* Iba57   Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 4 ISCA2* Isca2   Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 5 ISCA1* AK157302, Isca1   Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 6 PMPCB* Pmpcb   Alliance of Genome Resources
NARP syndrome ATP6* mt-Atp6   Alliance of Genome Resources
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities SHMT2* Shmt2   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency NDUFB7* Ndufb7   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency NDUFA8* Ndufa8   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency NDUFC2*, NDUFC2-KCTD14 Ndufc2   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 1 NDUFS4* Ndufs4   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 10 NDUFAF2* Ndufaf2   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 11 NDUFAF1* Ndufaf1   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 12 NDUFA1* Ndufa1   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 13 NDUFA2* Ndufa2   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 14 NDUFA11* Ndufa11   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 15 NDUFAF4* Ndufaf4   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 16 NDUFAF5* Ndufaf5   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 17 NDUFAF6* Ndufaf6   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 18 NDUFAF3* Ndufaf3   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 19 FOXRED1* Foxred1   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 2 NDUFS8* Ndufs8   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 21 NUBPL* Nubpl   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 22 NDUFA10* Ndufa10   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 23 NDUFA12* Ndufa12   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 24 NDUFB9* Ndufb9   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 25 NDUFB3* Ndufb3   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 26 NDUFA9* Ndufa9   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 27 MTFMT* Mtfmt   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 28 NDUFA13* Ndufa13   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 29 TMEM126B* Tmem126b   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 3 NDUFS7* Ndufs7   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 30 NDUFB11* Ndufb11, Ndufb11b   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 31 TIMMDC1* Timmdc1   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 32 NDUFB8* Ndufb8   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 33 NDUFA6* Ndufa6   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 34 NDUFAF8* Ndufaf8   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 35 NDUFB10* Ndufb10   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 4 NDUFV1* Ndufv1   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 5 NDUFS1* Ndufs1   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 6 NDUFS2* Ndufs2   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 7 NDUFV2* Ndufv2   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 8 NDUFS3* Ndufs3   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 9 NDUFS6* Ndufs6   Alliance of Genome Resources
primary coenzyme Q10 deficiency 1 COQ2* Coq2   Alliance of Genome Resources
primary coenzyme Q10 deficiency 2 PDSS1* Pdss1   Alliance of Genome Resources
primary coenzyme Q10 deficiency 3 PDSS2* Pdss2   Alliance of Genome Resources
primary coenzyme Q10 deficiency 5 COQ9* Coq9   Alliance of Genome Resources
primary coenzyme Q10 deficiency 6 COQ6* Coq6   Alliance of Genome Resources
primary coenzyme Q10 deficiency 7 COQ4* Coq4   Alliance of Genome Resources
primary coenzyme Q10 deficiency 8 COQ7* Coq7   Alliance of Genome Resources
primary coenzyme Q10 deficiency 9 COQ5* Coq5   Alliance of Genome Resources
Sengers syndrome AGK* Agk   Alliance of Genome Resources
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis POLG* Polg   Alliance of Genome Resources

 
Transgenes and other genome features developed in mice to model this disease.
     Disease Term Transgenes and Other Genome Features Mouse Models
  Leigh disease Tg(ATP6*)#aJguy 1 model