Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
![]() ![]() | Charcot-Marie-Tooth disease axonal type 2K | GDAP1* | Gdap1* | 1 model | Alliance of Genome Resources | ||
Charcot-Marie-Tooth disease axonal type 2O | DYNC1H1* | Dync1h1* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease axonal type 2P | LRSAM1* | Lrsam1* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease axonal type 2Q | DHTKD1* | Dhtkd1* | 2 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease axonal type 2S | IGHMBP2* | Ighmbp2* | 2 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease axonal type 2Z | MORC2* | Morc2a*, Morc2b | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease dominant intermediate C | YARS1* | Yars1* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease recessive intermediate D | COX6A1* | Cox6a1* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 1A | PMP22* | Pmp22* | 6 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 1B | MPZ* | Mpz* | 10 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 1C | LITAF* | Litaf* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 1E | PMP22* | Pmp22* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 2A1 | KIF1B* | Kif1b* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 2A2A | MFN2* | Mfn2* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 2B | RAB7A* | Rab7* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 2B1 | LMNA* | Lmna* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 2D | GARS1* | Gars1* | 4 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 2E | NEFL* | Nefl* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 3 | MPZ* | Mpz* | 3 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 3 | PMP22* | Pmp22* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 4B1 | MTMR2* | Mtmr2* | 2 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 4B2 | SBF2* | Sbf2* | 2 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 4B3 | SBF1* | Sbf1* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 4C | SH3TC2* | Sh3tc2* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 4D | NDRG1* | Ndrg1* | 2 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 4E | EGR2* | Egr2* | 2 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 4H | FGD4* | Fgd4* | 1 model | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease type 4J | FIG4* | Fig4* | 2 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease X-linked dominant 1 | GJB1* | Gjb1* | 4 models | Alliance of Genome Resources | |||
congenital central hypoventilation syndrome | PHOX2B* | Phox2b* | 2 models | Alliance of Genome Resources | |||
congenital myasthenic syndrome 10 | DOK7* | Dok7* | 1 model | Alliance of Genome Resources | |||
congenital myasthenic syndrome 11 | RAPSN* | Rapsn* | 1 model | Alliance of Genome Resources | |||
congenital myasthenic syndrome 12 | GFPT1* | Gfpt1* | 1 model | Alliance of Genome Resources | |||
congenital myasthenic syndrome 19 | COL13A1* | Col13a1* | 1 model | Alliance of Genome Resources | |||
congenital myasthenic syndrome 3A | CHRND* | Chrnd* | 1 model | Alliance of Genome Resources | |||
congenital myasthenic syndrome 4A | CHRNE* | Chrne* | 2 models | Alliance of Genome Resources | |||
congenital myasthenic syndrome 4C | CHRNE* | Chrne* | 1 model | Alliance of Genome Resources | |||
congenital myasthenic syndrome 5 | COLQ* | Colq* | 1 model | Alliance of Genome Resources | |||
congenital myasthenic syndrome 6 | CHAT* | Chat* | 2 models | Alliance of Genome Resources | |||
congenital myasthenic syndrome 8 | AGRN* | Agrn* | 1 model | Alliance of Genome Resources | |||
congenital myasthenic syndrome 9 | MUSK* | Musk* | 3 models | Alliance of Genome Resources | |||
congenital nystagmus 1 | FRMD7* | Frmd7* | 2 models | Alliance of Genome Resources | |||
Duane retraction syndrome | CHN1* | Chn1* | 1 model | Alliance of Genome Resources | |||
Duane retraction syndrome | MAFB* | Mafb* | 2 models | Alliance of Genome Resources | |||
familial episodic pain syndrome 3 | SCN11A* | Scn11a* | 1 model | Alliance of Genome Resources | |||
giant axonal neuropathy 1 | GAN* | Gan* | 2 models | Alliance of Genome Resources | |||
hereditary neuropathy with liability to pressure palsies | PMP22* | Pmp22* | 3 models | Alliance of Genome Resources | |||
hereditary sensory and autonomic neuropathy type 6 | DST* | Dst* | 1 model | Alliance of Genome Resources | |||
hereditary sensory neuropathy | NTRK1* | Ntrk1* | 2 models | Alliance of Genome Resources | |||
Leber hereditary optic neuropathy | ND6* | mt-Nd6* | 1 model | Alliance of Genome Resources | |||
optic atrophy | OPA1* | Opa1* | 3 models | Alliance of Genome Resources | |||
Riley-Day syndrome | ELP1* | Elp1* | 5 models | Alliance of Genome Resources | |||
![]() | Charcot-Marie-Tooth disease intermediate type | CFAP276 | Cfap276* | 2 models | Alliance of Genome Resources | ||
Charcot-Marie-Tooth disease type 6 | SLC25A46 | Slc25a46* | 1 model | Alliance of Genome Resources | |||
congenital central hypoventilation syndrome | TLX3 | Tlx3* | 1 model | Alliance of Genome Resources | |||
congenital fibrosis of the extraocular muscles | KIF21A | Kif21a* | 3 models | Alliance of Genome Resources | |||
congenital fibrosis of the extraocular muscles | TUBB3 | Tubb3* | 1 model | Alliance of Genome Resources | |||
congenital nystagmus | AHR | Ahr* | 1 model | Alliance of Genome Resources | |||
Guillain-Barre syndrome | CD86 | Cd86* | 1 model | Alliance of Genome Resources | |||
Guillain-Barre syndrome | AIRE | Aire* | 1 model | Alliance of Genome Resources | |||
hereditary sensory neuropathy | DST | Dst* | 1 model | Alliance of Genome Resources | |||
hereditary sensory neuropathy | SCN11A | Scn11a* | 1 model | Alliance of Genome Resources | |||
Lambert-Eaton myasthenic syndrome | CACNA1A | Cacna1a* | 1 model | Alliance of Genome Resources | |||
motor peripheral neuropathy | STMN2 | Stmn2* | 2 models | Alliance of Genome Resources | |||
motor peripheral neuropathy | SLC12A6 | Slc12a6* | 1 model | Alliance of Genome Resources | |||
neuroblastoma | LIN28B | Lin28b* | 1 model | Alliance of Genome Resources | |||
neuromuscular disease | NEMF | Nemf* | 3 models | Alliance of Genome Resources | |||
neuropathy | NEMF | Nemf* | 3 models | Alliance of Genome Resources | |||
neuropathy | MPZ | Mpz* | 2 models | Alliance of Genome Resources | |||
neuropathy | STMN2 | Stmn2* | 1 model | Alliance of Genome Resources | |||
optic atrophy | RPL24 | Rpl24* | 1 model | Alliance of Genome Resources | |||
trigeminal neuralgia | GABRG1 | Gabrg1* | 1 model | Alliance of Genome Resources | |||
![]() | anterior ischemic optic neuropathy | NOS3* | Nos3 | Alliance of Genome Resources | |||
anterior ischemic optic neuropathy | ND1* | mt-Nd1 | Alliance of Genome Resources | ||||
anterior ischemic optic neuropathy | CSF3* | Csf3 | Alliance of Genome Resources | ||||
autosomal recessive congenital nystagmus | ROBO1* | Robo1 | Alliance of Genome Resources | ||||
bilateral optic nerve hypoplasia | PAX6* | Pax6 | Alliance of Genome Resources | ||||
brachial plexus neuritis | SEPTIN9* | Septin9 | Alliance of Genome Resources | ||||
Brody myopathy | ATP2A1* | Atp2a1 | Alliance of Genome Resources | ||||
carpal tunnel syndrome 1 | TTR* | Ttr | Alliance of Genome Resources | ||||
carpal tunnel syndrome 2 | COMP* | Comp | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | GDAP1* | Gdap1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | FBLN5* | Fbln5 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | CADM3* | Cadm3 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | MFN2* | Mfn2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | JAG1* | Jag1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | ITPR3* | Itpr3 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | SLC12A6* | Slc12a6 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | POLR3B* | Polr3b | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | PMP22* | Pmp22 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | NRG1* | Nrg1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | NEFL* | Nefl | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease | MPZ* | Mpz | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2C | TRPV4* | Trpv4 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2C | GDAP1* | Gdap1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2CC | NEFH* | Nefh | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2F | HSPB1* | Hspb1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2K | JPH1* | Jph1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2L | HSPB8* | Hspb8 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2N | AARS1* | Aars1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2T | MME* | Mme | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2U | MARS1* | Mars1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2V | NAGLU* | Naglu | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease, axonal type 2W | HARS1* | Hars1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease axonal type 2X | SPG11* | Spg11 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease dominant intermediate A | GBF1* | Gbf1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease dominant intermediate B | DNM2* | Dnm2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease dominant intermediate D | MPZ* | Mpz | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease dominant intermediate E | INF2* | Inf2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease dominant intermediate F | GNB4* | Gnb4 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease dominant intermediate G | NEFL* | Nefl | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease recessive intermediate A | GDAP1* | Gdap1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease recessive intermediate B | KARS1* | Kars1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease recessive intermediate C | PLEKHG5* | Plekhg5 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 1D | EGR2* | Egr2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 1F | NEFL* | Nefl | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 1G | PMP2* | Pmp2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 2A2B | MFN2* | Mfn2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 2B2 | PNKP* | Pnkp | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 2DD | ATP1A1* | Atp1a1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 2EE | MPV17* | Mpv17 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 2I | MPZ* | Mpz | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 2J | MPZ* | Mpz | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 2R | TRIM2* | Trim2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 2Y | VCP* | Vcp | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 3 | EGR2* | Egr2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 3 | PRX* | Prx | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 4A | GDAP1* | Gdap1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 4F | PRX* | Prx | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 4G | HK1* | Hk1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 4K | SURF1* | Surf1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease type 6 | MFN2* | Mfn2 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease X-linked dominant 6 | PDK3* | Pdk3 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease X-linked recessive 4 | AIFM1* | Aifm1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease X-linked recessive 5 | PRPS1* | Prps1 | Alliance of Genome Resources | ||||
congenital central hypoventilation syndrome | BDNF* | Bdnf | Alliance of Genome Resources | ||||
congenital central hypoventilation syndrome | LBX1* | Lbx1 | Alliance of Genome Resources | ||||
congenital central hypoventilation syndrome | MYO1H* | Myo1h | Alliance of Genome Resources | ||||
congenital fibrosis of the extraocular muscles 1 | KIF21A* | Kif21a | Alliance of Genome Resources | ||||
congenital fibrosis of the extraocular muscles 2 | PHOX2A* | Phox2a | Alliance of Genome Resources | ||||
congenital fibrosis of the extraocular muscles 3A | TUBB3* | Tubb3 | Alliance of Genome Resources | ||||
congenital fibrosis of the extraocular muscles 5 | COL25A1* | Col25a1 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome | SYT2* | Syt2 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome | CHRNE* | Chrne | Alliance of Genome Resources | ||||
congenital myasthenic syndrome | MYO9A* | Myo9a | Alliance of Genome Resources | ||||
congenital myasthenic syndrome | SLC25A1* | Slc25a1 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome | VAMP1* | Vamp1 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 13 | DPAGT1* | Dpagt1 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 14 | ALG2* | Alg2 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 15 | ALG14* | Alg14 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 16 | SCN4A* | Scn4a | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 17 | LRP4* | Lrp4 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 18 | SNAP25* | Snap25 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 1A | CHRNA1* | Chrna1 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 1A | CAST* | Cast | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 1B | CHRNA1* | Chrna1 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 20 | SLC5A7* | Slc5a7 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 21 | SLC18A3* | Slc18a3 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 22 | PREPL* | Prepl | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 2A | CHRNB1* | Chrnb1 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 2C | CHRNB1* | Chrnb1 | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 3B | CHRND* | Chrnd | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 3C | CHRND* | Chrnd | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 4B | CHRNE* | Chrne | Alliance of Genome Resources | ||||
congenital myasthenic syndrome 7 | SYT2* | Syt2 | Alliance of Genome Resources | ||||
congenital nystagmus | ROBO1* | Robo1 | Alliance of Genome Resources | ||||
congenital nystagmus | PAX6* | Pax6 | Alliance of Genome Resources | ||||
congenital nystagmus | MYO7A* | Myo7a | Alliance of Genome Resources | ||||
congenital nystagmus 6 | GPR143* | Gpr143 | Alliance of Genome Resources | ||||
diabetic neuropathy | PGF* | Pgf | Alliance of Genome Resources | ||||
diabetic neuropathy | TLR4* | Tlr4 | Alliance of Genome Resources | ||||
diabetic neuropathy | UCP2* | Ucp2 | Alliance of Genome Resources | ||||
diabetic neuropathy | UCP3* | Ucp3 | Alliance of Genome Resources | ||||
diabetic neuropathy | EPO* | Epo | Alliance of Genome Resources | ||||
diabetic neuropathy | ALDH2* | Aldh2 | Alliance of Genome Resources | ||||
diabetic neuropathy | AKR1B1* | Akr1b1 | Alliance of Genome Resources | ||||
diabetic neuropathy | ADRA2B* | Adra2b | Alliance of Genome Resources | ||||
diabetic neuropathy | VEGFA* | Vegfa | Alliance of Genome Resources | ||||
diabetic neuropathy | FGF2* | Fgf2 | Alliance of Genome Resources | ||||
diabetic neuropathy | FTO* | Fto | Alliance of Genome Resources | ||||
diabetic neuropathy | GHRL* | Ghrl | Alliance of Genome Resources | ||||
diabetic neuropathy | HGF* | Hgf | Alliance of Genome Resources | ||||
diabetic neuropathy | IFNG* | Ifng | Alliance of Genome Resources | ||||
Duane retraction syndrome | SALL4* | Sall4 | Alliance of Genome Resources | ||||
erythromelalgia | SCN9A* | Scn9a | Alliance of Genome Resources | ||||
familial episodic pain syndrome 1 | TRPA1* | Trpa1 | Alliance of Genome Resources | ||||
familial episodic pain syndrome 2 | SCN10A* | Scn10a | Alliance of Genome Resources | ||||
giant axonal neuropathy 2 | DCAF8* | Dcaf8 | Alliance of Genome Resources | ||||
Guillain-Barre syndrome | PMP22* | Pmp22 | Alliance of Genome Resources | ||||
hereditary sensory and autonomic neuropathy type 1A | SPTLC1* | Sptlc1 | Alliance of Genome Resources | ||||
hereditary sensory and autonomic neuropathy type 1C | SPTLC2* | Sptlc2 | Alliance of Genome Resources | ||||
hereditary sensory and autonomic neuropathy type 2A | WNK1* | Wnk1 | Alliance of Genome Resources | ||||
hereditary sensory and autonomic neuropathy type 2B | RETREG1* | Retreg1 | Alliance of Genome Resources | ||||
hereditary sensory and autonomic neuropathy type 5 | NGF* | Ngf | 2 models | Alliance of Genome Resources | |||
hereditary sensory and autonomic neuropathy type 7 | SCN11A* | Scn11a | Alliance of Genome Resources | ||||
hereditary sensory and autonomic neuropathy type 8 | PRDM12* | Prdm12 | Alliance of Genome Resources | ||||
hereditary sensory neuropathy | WNK1* | Wnk1 | Alliance of Genome Resources | ||||
hereditary sensory neuropathy | KIF1A* | Kif1a | Alliance of Genome Resources | ||||
hereditary sensory neuropathy | DNMT1* | Dnmt1 | Alliance of Genome Resources | ||||
hereditary sensory neuropathy type 1D | ATL1* | Atl1 | Alliance of Genome Resources | ||||
hereditary sensory neuropathy type 1E | DNMT1* | Dnmt1 | Alliance of Genome Resources | ||||
hereditary sensory neuropathy type 1F | ATL3* | Atl3 | Alliance of Genome Resources | ||||
hereditary sensory neuropathy type 2C | KIF1A* | Kif1a | Alliance of Genome Resources | ||||
hereditary sensory neuropathy type 4 | NTRK1* | Ntrk1 | Alliance of Genome Resources | ||||
Lambert-Eaton myasthenic syndrome | CACNA1B* | Cacna1b | Alliance of Genome Resources | ||||
Lambert-Eaton myasthenic syndrome | CHRM1* | Chrm1 | Alliance of Genome Resources | ||||
Leber hereditary optic neuropathy | ND1* | mt-Nd1 | Alliance of Genome Resources | ||||
Leber hereditary optic neuropathy | TP53* | Trp53 | Alliance of Genome Resources | ||||
Leber hereditary optic neuropathy | SOD2* | Sod2 | Alliance of Genome Resources | ||||
Leber hereditary optic neuropathy | RPGRIP1* | Rpgrip1 | Alliance of Genome Resources | ||||
Leber hereditary optic neuropathy | RDH12* | Rdh12 | Alliance of Genome Resources | ||||
Leber hereditary optic neuropathy | PARL* | Parl | Alliance of Genome Resources | ||||
Leber hereditary optic neuropathy | ND5* | mt-Nd5 | Alliance of Genome Resources | ||||
Leber hereditary optic neuropathy | ND4L* | mt-Nd4l | Alliance of Genome Resources | ||||
Leber hereditary optic neuropathy | ND4* | mt-Nd4 | Alliance of Genome Resources | ||||
Leber hereditary optic neuropathy | ND3* | mt-Nd3 | Alliance of Genome Resources | ||||
Leber hereditary optic neuropathy | ND2* | mt-Nd2 | Alliance of Genome Resources | ||||
Leber hereditary optic neuropathy | EPHX1* | Ephx1 | Alliance of Genome Resources | ||||
Leber hereditary optic neuropathy | ATP6* | Atp6-ps, mt-Atp6 | Alliance of Genome Resources | ||||
malignant peripheral nerve sheath tumor | KDM4B* | Kdm4b | Alliance of Genome Resources | ||||
motor peripheral neuropathy | EGR2* | Egr2 | Alliance of Genome Resources | ||||
neuroblastoma | KIF1B* | Kif1b | Alliance of Genome Resources | ||||
neuroblastoma | IGF1R* | Igf1r | Alliance of Genome Resources | ||||
neuroblastoma | CHAF1A* | Chaf1a | Alliance of Genome Resources | ||||
neuroblastoma | NSD1* | Nsd1 | Alliance of Genome Resources | ||||
neuroblastoma | PECAM1* | Pecam1 | Alliance of Genome Resources | ||||
neuroblastoma | PHOX2B* | Phox2b | Alliance of Genome Resources | ||||
neuroblastoma | NME1* | Nme1 | Alliance of Genome Resources | ||||
neuroblastoma | CDKN2A* | Cdkn2a | Alliance of Genome Resources | ||||
neuroblastoma | ARID1B* | Arid1b | Alliance of Genome Resources | ||||
neuroblastoma | ARID1A* | Arid1a | Alliance of Genome Resources | ||||
neurofibrosarcoma | MXI1* | Mxi1 | Alliance of Genome Resources | ||||
neuromuscular disease | GPI* | Gpi1 | Alliance of Genome Resources | ||||
neuromyelitis optica | AQP4* | Aqp4 | Alliance of Genome Resources | ||||
neuromyelitis optica | HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5 | H2-Eb1, H2-Eb2 | Alliance of Genome Resources | ||||
neuromyelitis optica | HLA-DQB1*, HLA-DQB2 | H2-Ab1 | Alliance of Genome Resources | ||||
neuropathy | CTSS* | Ctss | Alliance of Genome Resources | ||||
non-arteritic anterior ischemic optic neuropathy | F5* | F5 | Alliance of Genome Resources | ||||
non-arteritic anterior ischemic optic neuropathy | ACE* | Ace | Alliance of Genome Resources | ||||
non-arteritic anterior ischemic optic neuropathy | GP1BA* | Gp1ba | Alliance of Genome Resources | ||||
non-arteritic anterior ischemic optic neuropathy | ITGB3* | Itgb3 | Alliance of Genome Resources | ||||
non-arteritic anterior ischemic optic neuropathy | MTHFR* | Mthfr | Alliance of Genome Resources | ||||
optic atrophy | MIEF1* | Mief1 | Alliance of Genome Resources | ||||
optic atrophy | WFS1* | Wfs1 | Alliance of Genome Resources | ||||
optic atrophy | MCAT* | Mcat | Alliance of Genome Resources | ||||
optic atrophy | MECR* | Mecr | Alliance of Genome Resources | ||||
optic atrophy | SSBP1* | Ssbp1 | Alliance of Genome Resources | ||||
optic atrophy 1 | WFS1* | Wfs1 | Alliance of Genome Resources | ||||
optic atrophy 1 | OPA1* | Opa1 | Alliance of Genome Resources | ||||
optic atrophy 10 | RTN4IP1* | Rtn4ip1 | Alliance of Genome Resources | ||||
optic atrophy 11 | YME1L1* | Yme1l1 | Alliance of Genome Resources | ||||
optic atrophy 12 | AFG3L2* | Afg3l2 | Alliance of Genome Resources | ||||
optic atrophy 3 | OPA3* | Opa3 | Alliance of Genome Resources | ||||
optic atrophy 5 | DNM1L* | Dnm1l | Alliance of Genome Resources | ||||
optic atrophy 7 | TMEM126A* | Tmem126a | Alliance of Genome Resources | ||||
optic atrophy 9 | ACO2* | Aco2 | Alliance of Genome Resources | ||||
optic nerve disease | EDN1* | Edn1 | Alliance of Genome Resources | ||||
optic nerve glioma | NF1* | Nf1 | Alliance of Genome Resources | ||||
optic neuritis | GSTM1*, GSTM5 | Gstm1, Gstm2, Gstm3, Gstm6 | Alliance of Genome Resources | ||||
optic neuritis | SOD2* | Sod2 | Alliance of Genome Resources | ||||
optic neuritis | MOG* | Mog | Alliance of Genome Resources | ||||
optic neuritis | HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5 | H2-Eb1, H2-Eb2 | Alliance of Genome Resources | ||||
optic neuritis | HLA-DQB1*, HLA-DQB2 | H2-Ab1 | Alliance of Genome Resources | ||||
optic neuritis | GSTT1* | Gstt1 | Alliance of Genome Resources | ||||
optic neuritis | CAT* | Cat | Alliance of Genome Resources | ||||
optic neuritis | AQP4* | Aqp4 | Alliance of Genome Resources | ||||
paramyotonia congenita of Von Eulenburg | SCN4A* | Scn4a | Alliance of Genome Resources | ||||
paroxysmal extreme pain disorder | SCN9A* | Scn9a | Alliance of Genome Resources | ||||
peripheral nervous system disease | GSTT1* | Gstt1 | Alliance of Genome Resources | ||||
peripheral nervous system disease | GSTP1* | Gstp1, Gstp2, Gstp3, Gstp-ps | Alliance of Genome Resources | ||||
peripheral nervous system disease | ND1* | mt-Nd1 | Alliance of Genome Resources | ||||
peripheral nervous system neoplasm | PTEN* | Pten | Alliance of Genome Resources | ||||
plexiform neurofibroma | NF1* | Nf1 | Alliance of Genome Resources | ||||
polyneuropathy | SOD3* | Sod3 | Alliance of Genome Resources | ||||
polyneuropathy | SOD2* | Sod2 | Alliance of Genome Resources | ||||
polyneuropathy | HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5 | H2-Eb1, H2-Eb2 | Alliance of Genome Resources | ||||
polyneuropathy | FCGR3A*, FCGR3B | Fcgr4 | Alliance of Genome Resources | ||||
polyneuropathy due to drug | ERCC6* | Ercc6 | Alliance of Genome Resources | ||||
polyneuropathy due to drug | ERCC4* | Ercc4 | Alliance of Genome Resources | ||||
sciatic neuropathy | SERPINF1* | Serpinf1 | Alliance of Genome Resources | ||||
sciatic neuropathy | SOD1* | Sod1 | Alliance of Genome Resources | ||||
sciatic neuropathy | IL1RN* | Il1rn | Alliance of Genome Resources | ||||
sciatic neuropathy | HGF* | Hgf | Alliance of Genome Resources | ||||
sciatic neuropathy | LRP1* | Lrp1 | Alliance of Genome Resources | ||||
X-linked deafness 5 | AIFM1* | Aifm1 | Alliance of Genome Resources |
Transgenes and other genome features developed in mice to model this disease.
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Disease Term | Transgenes and Other Genome Features | Mouse Models | |
Charcot-Marie-Tooth disease axonal type 2F | Tg(Thy1-HSPB1*S135F)#Lvdb | 1 model | |
Charcot-Marie-Tooth disease type 1A | Tg(PMP22)C61Clh | 1 model | |
Charcot-Marie-Tooth disease type 1A | Tg(PMP22)C22Clh | 1 model | |
Charcot-Marie-Tooth disease type 1A | Tg(PMP22)C3Fbas | 1 model | |
Charcot-Marie-Tooth disease type 1A | Tg(Pmp22)247Ueli | 1 model | |
Charcot-Marie-Tooth disease type 1A | Tg(tetO/CMV-Pmp22)JP18Clh | 1 model | |
Charcot-Marie-Tooth disease type 1A | Tg(Pmp22)My41Clh | 1 model | |
Charcot-Marie-Tooth disease type 1B | Tg(Mpz*S63X)31Mes | 2 models | |
Charcot-Marie-Tooth disease type 1B | Tg(Mpz*S63X)30Mes | 1 model | |
Charcot-Marie-Tooth disease type 1B | Tg(Mpz)88.4Mfel | 1 model | |
Charcot-Marie-Tooth disease type 1B | Tg(Mpz)88.2Mfel | 1 model | |
Charcot-Marie-Tooth disease type 1B | Tg(Mpz)88.1Mfel | 1 model | |
Charcot-Marie-Tooth disease type 1C | Tg(CMV-LITAF*W116G)#Lli | 1 model | |
Charcot-Marie-Tooth disease type 2A2A | Tg(Eno2-MFN2*R94Q)L87Ugfm | 1 model | |
Charcot-Marie-Tooth disease type 2A2A | Tg(Mnx1-Mfn2*T105M,-EGFP)1Dcc | 1 model | |
Charcot-Marie-Tooth disease type 2A2A | Tg(Eno2-MFN2*R94Q)L51Ugfm | 2 models | |
Charcot-Marie-Tooth disease type 2E | Tg(NEFL*E397K)#Milg | 1 model | |
Charcot-Marie-Tooth disease type 2E | Tg(tetO-NEFL)173.2Jpj | 1 model | |
Charcot-Marie-Tooth disease type 3 | Tg(Mpz*S63C)32Mes | 1 model | |
Charcot-Marie-Tooth disease type 3 | Tg(Mpz*S63C)33Mes | 1 model | |
Charcot-Marie-Tooth disease type 4J | Tg(ACTB-Fig4*I41T)705Mm | 1 model | |
congenital myasthenic syndrome 3A | Tg(Ckm-Chrnd*S262T)40Cgz | 1 model | |
congenital myasthenic syndrome 4A | Tg(Ckm-Chrne*L269F)5Cgz | 1 model | |
hereditary sensory neuropathy | Tg(CAG-SPTLC1*C133W)8EAmcc | 1 model | |
Leber hereditary optic neuropathy | Tg(LONP1-mt-ND4*,-mCherry*)#Jguy | 1 model | |
neuroblastoma | Tg(rTH-Tag)20Dmc | 1 model | |
neuroblastoma | Tg(Th-MYCN)41Waw | 14 models | |
neuroblastoma | Tg(tetO-TAg)2-5Hiwa | 1 model | |
neuroblastoma | Tg(CAG-Alk*F1174L,-luc)60Jhsc | 3 models | |
neuroblastoma | Tg(OMP-SV40T)13Bse | 1 model | |
neuropathy | Tg(Mpz)80.2Wra | 1 model |