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
     autosomal recessive limb-girdle muscular dystrophy type 2A CAPN3* Capn3* 3 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2B DYSF* Dysf* 5 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2C SGCG* Sgcg* 2 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2D SGCA* Sgca* 3 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2E SGCB* Sgcb* 2 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2F SGCD* Sgcd* 3 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2G TCAP* Tcap* 1 model Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2H TRIM32* Trim32* 2 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2I FKRP* Fkrp* 4 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2J TTN* Ttn* 3 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2L ANO5* Ano5* 1 model Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2P DAG1* Dag1* 1 model Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2U CRPPA* Crppa* 1 model Alliance of Genome Resources
Becker muscular dystrophy DMD* Dmd* 1 model Alliance of Genome Resources
Bethlem myopathy COL6A1* Col6a1* 1 model Alliance of Genome Resources
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 merosin-deficient muscular dystrophy 1A LAMA2* Lama2* 10 models Alliance of Genome Resources
congenital muscular dystrophy due to integrin alpha-7 deficiency ITGA7* Itga7* 1 model Alliance of Genome Resources
congenital muscular dystrophy due to LMNA mutation LMNA* Lmna* 1 model 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 MAFB* Mafb* 2 models Alliance of Genome Resources
Duane retraction syndrome CHN1* Chn1* 1 model Alliance of Genome Resources
Duchenne muscular dystrophy DMD* Dmd* 30 models Alliance of Genome Resources
Emery-Dreifuss muscular dystrophy LMNA* Lmna* 2 models Alliance of Genome Resources
familial episodic pain syndrome 3 SCN11A* Scn11a* 1 model Alliance of Genome Resources
Fukuyama congenital muscular dystrophy FKTN* Fktn* 6 models 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
megaconial type congenital muscular dystrophy CHKB* Chkb* 1 model Alliance of Genome Resources
muscular dystrophy FKRP* Fkrp* 1 model Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 POMT1* Pomt1* 1 model Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B5 FKRP* Fkrp* 1 model Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B6 LARGE1* Large1* 1 model Alliance of Genome Resources
myotonic dystrophy type 1 DMPK* Dmpk* 2 models Alliance of Genome Resources
optic atrophy OPA1* Opa1* 3 models Alliance of Genome Resources
rigid spine muscular dystrophy 1 SELENON* Selenon* 1 model Alliance of Genome Resources
Riley-Day syndrome ELP1* Elp1* 5 models Alliance of Genome Resources
tibial muscular dystrophy TTN* Ttn* 1 model Alliance of Genome Resources
Walker-Warburg syndrome POMGNT1* Pomgnt1* 2 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 TUBB3 Tubb3* 1 model Alliance of Genome Resources
congenital fibrosis of the extraocular muscles KIF21A Kif21a* 3 models Alliance of Genome Resources
congenital muscular dystrophy COL6A3 Col6a3* 1 model Alliance of Genome Resources
congenital nystagmus AHR Ahr* 1 model Alliance of Genome Resources
distal myopathy DNAJB4 Dnajb4* 2 models Alliance of Genome Resources
distal myopathy DYSF Dysf* 4 models Alliance of Genome Resources
Duchenne muscular dystrophy CTSS Ctss* 1 model Alliance of Genome Resources
Emery-Dreifuss muscular dystrophy ZMPSTE24 Zmpste24* 1 model Alliance of Genome Resources
Emery-Dreifuss muscular dystrophy SYNE1 Syne1* 1 model Alliance of Genome Resources
facioscapulohumeral muscular dystrophy FAT1 Fat1* 3 models Alliance of Genome Resources
facioscapulohumeral muscular dystrophy LARGE1 Large1* 1 model Alliance of Genome Resources
Guillain-Barre syndrome AIRE Aire* 1 model Alliance of Genome Resources
Guillain-Barre syndrome CD86 Cd86* 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
limb-girdle muscular dystrophy SGCG Sgcg* 1 model Alliance of Genome Resources
motor peripheral neuropathy SLC12A6 Slc12a6* 1 model Alliance of Genome Resources
motor peripheral neuropathy STMN2 Stmn2* 2 models Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 B4GAT1 B4gat1* 1 model Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 LARGE1 Large1* 3 models Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 POMGNT1 Pomgnt1* 1 model Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 FKTN Fktn* 3 models Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 FKRP Fkrp* 2 models Alliance of Genome Resources
myotonic disease MBNL1 Mbnl1* 2 models Alliance of Genome Resources
neuroblastoma LIN28B Lin28b* 1 model Alliance of Genome Resources
neuromuscular disease NEMF Nemf* 3 models Alliance of Genome Resources
neuropathy STMN2 Stmn2* 1 model Alliance of Genome Resources
neuropathy MPZ Mpz* 2 models Alliance of Genome Resources
neuropathy NEMF Nemf* 3 models Alliance of Genome Resources
optic atrophy RPL24 Rpl24* 1 model Alliance of Genome Resources
scapuloperoneal myopathy FHL1 Fhl1* 1 model Alliance of Genome Resources
trigeminal neuralgia GABRG1 Gabrg1* 1 model Alliance of Genome Resources
Ullrich congenital muscular dystrophy COL6A1 Col6a1* 1 model Alliance of Genome Resources
Ullrich congenital muscular dystrophy COL6A3 Col6a3* 1 model Alliance of Genome Resources
Walker-Warburg syndrome COL4A1 Col4a1* 1 model Alliance of Genome Resources
     anterior ischemic optic neuropathy CSF3* Csf3   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
autosomal dominant Emery-Dreifuss muscular dystrophy 2 LMNA* Lmna   Alliance of Genome Resources
autosomal dominant Emery-Dreifuss muscular dystrophy 4 SYNE1* Syne1   Alliance of Genome Resources
autosomal dominant Emery-Dreifuss muscular dystrophy 5 SYNE2* Syne2   Alliance of Genome Resources
autosomal dominant Emery-Dreifuss muscular dystrophy 7 TMEM43* Tmem43   Alliance of Genome Resources
autosomal dominant limb-girdle muscular dystrophy CAPN3* Capn3   Alliance of Genome Resources
autosomal dominant limb-girdle muscular dystrophy type 1 DNAJB6* Dnajb6   Alliance of Genome Resources
autosomal dominant limb-girdle muscular dystrophy type 2 TNPO3* Tnpo3   Alliance of Genome Resources
autosomal dominant limb-girdle muscular dystrophy type 3 HNRNPDL* Hnrnpdl   Alliance of Genome Resources
autosomal recessive congenital nystagmus ROBO1* Robo1   Alliance of Genome Resources
autosomal recessive Emery-Dreifuss muscular dystrophy 3 LMNA* Lmna   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy POPDC3* Popdc3   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy JAG2* Jag2   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy HMGCR* Hmgcr   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy LAMA2* Lama2   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy POMT2* Pomt2   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2D DAG1* Dag1   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2K POMT1* Pomt1   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2L FKTN* Fktn   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2M FKTN* Fktn   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2N POMT2* Pomt2   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2O POMGNT1* Pomgnt1   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2Q PLEC* Plec   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2S TRAPPC11* Trappc11   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2T GMPPB* Gmppb   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2W LIMS2* Lims2   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2X POPDC1* Bves   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2Y TOR1AIP1* Tor1aip1   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2Z POGLUT1* Poglut1   Alliance of Genome Resources
Bethlem myopathy COL12A1* Col12a1   Alliance of Genome Resources
Bethlem myopathy COL6A2* Col6a2   Alliance of Genome Resources
Bethlem myopathy COL6A3* Col6a3   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 FBLN5* Fbln5   Alliance of Genome Resources
Charcot-Marie-Tooth disease GDAP1* Gdap1   Alliance of Genome Resources
Charcot-Marie-Tooth disease ITPR3* Itpr3   Alliance of Genome Resources
Charcot-Marie-Tooth disease JAG1* Jag1   Alliance of Genome Resources
Charcot-Marie-Tooth disease MFN2* Mfn2   Alliance of Genome Resources
Charcot-Marie-Tooth disease NEFL* Nefl   Alliance of Genome Resources
Charcot-Marie-Tooth disease PMP22* Pmp22   Alliance of Genome Resources
Charcot-Marie-Tooth disease MPZ* Mpz   Alliance of Genome Resources
Charcot-Marie-Tooth disease NRG1* Nrg1   Alliance of Genome Resources
Charcot-Marie-Tooth disease CADM3* Cadm3   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 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 PRX* Prx   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 3 EGR2* Egr2   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 LBX1* Lbx1   Alliance of Genome Resources
congenital central hypoventilation syndrome BDNF* Bdnf   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 muscular dystrophy-dystroglycanopathy A14 GMPPB* Gmppb   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy A7 CRPPA* Crppa   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A1 POMT1* Pomt1   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A10 RXYLT1* Rxylt1   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A11 B3GALNT2* B3galnt2   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A12 POMK* Pomk   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A13 B4GAT1* B4gat1   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A2 POMT2* Pomt2   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A3 POMGNT1* Pomgnt1   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A5 FKRP* Fkrp   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A6 LARGE1* Large1   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A8 POMGNT2* Pomgnt2   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A9 DAG1* Dag1   Alliance of Genome Resources
congenital muscular dystrophy with cataracts and intellectual disability INPP5K* Inpp5k   Alliance of Genome Resources
congenital myasthenic syndrome SLC25A1* Slc25a1   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 SYT2* Syt2   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 CAST* Cast   Alliance of Genome Resources
congenital myasthenic syndrome 1A CHRNA1* Chrna1   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 MYO7A* Myo7a   Alliance of Genome Resources
congenital nystagmus ROBO1* Robo1   Alliance of Genome Resources
congenital nystagmus PAX6* Pax6   Alliance of Genome Resources
congenital nystagmus 6 GPR143* Gpr143   Alliance of Genome Resources
diabetic neuropathy GHRL* Ghrl   Alliance of Genome Resources
diabetic neuropathy ADRA2B* Adra2b   Alliance of Genome Resources
diabetic neuropathy AKR1B1* Akr1b1   Alliance of Genome Resources
diabetic neuropathy ALDH2* Aldh2   Alliance of Genome Resources
diabetic neuropathy EPO* Epo   Alliance of Genome Resources
diabetic neuropathy FGF2* Fgf2   Alliance of Genome Resources
diabetic neuropathy FTO* Fto   Alliance of Genome Resources
diabetic neuropathy HGF* Hgf   Alliance of Genome Resources
diabetic neuropathy IFNG* Ifng   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 VEGFA* Vegfa   Alliance of Genome Resources
distal myopathy LDB3* Ldb3   Alliance of Genome Resources
distal myopathy 1 MYH7* Myh7   Alliance of Genome Resources
distal myopathy 3 HNRNPA1*, HNRNPA1L2 Hnrnpa1, Hnrnpa1l2-ps2   Alliance of Genome Resources
distal myopathy 4 FLNC* Flnc   Alliance of Genome Resources
distal myopathy Tateyama type CAV3* Cav3   Alliance of Genome Resources
distal myopathy with anterior tibial onset DYSF* Dysf   Alliance of Genome Resources
distal myopathy with rimmed vacuoles SQSTM1* Sqstm1   Alliance of Genome Resources
Duane retraction syndrome SALL4* Sall4   Alliance of Genome Resources
Duchenne muscular dystrophy DAG1* Dag1   Alliance of Genome Resources
Duchenne muscular dystrophy ITGA7* Itga7 1 model Alliance of Genome Resources
Emery-Dreifuss muscular dystrophy EMD* Emd   Alliance of Genome Resources
erythromelalgia SCN9A* Scn9a   Alliance of Genome Resources
facioscapulohumeral muscular dystrophy 2 SMCHD1* Smchd1   Alliance of Genome Resources
facioscapulohumeral muscular dystrophy 3 LRIF1* Lrif1   Alliance of Genome Resources
facioscapulohumeral muscular dystrophy 4 DNMT3B* Dnmt3b   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 DNMT1* Dnmt1   Alliance of Genome Resources
hereditary sensory neuropathy KIF1A* Kif1a   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 CHRM1* Chrm1   Alliance of Genome Resources
Lambert-Eaton myasthenic syndrome CACNA1B* Cacna1b   Alliance of Genome Resources
Leber hereditary optic neuropathy ND4* mt-Nd4   Alliance of Genome Resources
Leber hereditary optic neuropathy ATP6* Atp6-ps, mt-Atp6   Alliance of Genome Resources
Leber hereditary optic neuropathy EPHX1* Ephx1   Alliance of Genome Resources
Leber hereditary optic neuropathy ND1* mt-Nd1   Alliance of Genome Resources
Leber hereditary optic neuropathy ND2* mt-Nd2   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 ND3* mt-Nd3   Alliance of Genome Resources
limb-girdle muscular dystrophy FKRP* Fkrp   Alliance of Genome Resources
malignant peripheral nerve sheath tumor KDM4B* Kdm4b   Alliance of Genome Resources
Miyoshi muscular dystrophy 1 DYSF* Dysf   Alliance of Genome Resources
Miyoshi muscular dystrophy 3 ANO5* Ano5   Alliance of Genome Resources
motor peripheral neuropathy EGR2* Egr2   Alliance of Genome Resources
muscular dystrophy LAMA2* Lama2   Alliance of Genome Resources
muscular dystrophy FKTN* Fktn   Alliance of Genome Resources
muscular dystrophy DYSF* Dysf   Alliance of Genome Resources
muscular dystrophy COL6A3* Col6a3   Alliance of Genome Resources
muscular dystrophy CHKB* Chkb   Alliance of Genome Resources
muscular dystrophy CAV3* Cav3   Alliance of Genome Resources
muscular dystrophy CAPN3* Capn3   Alliance of Genome Resources
muscular dystrophy TRIM32* Trim32   Alliance of Genome Resources
muscular dystrophy SYNE1* Syne1   Alliance of Genome Resources
muscular dystrophy SGCD* Sgcd   Alliance of Genome Resources
muscular dystrophy SGCB* Sgcb   Alliance of Genome Resources
muscular dystrophy SGCA* Sgca   Alliance of Genome Resources
muscular dystrophy POMT2* Pomt2   Alliance of Genome Resources
muscular dystrophy POMT1* Pomt1   Alliance of Genome Resources
muscular dystrophy POMGNT1* Pomgnt1   Alliance of Genome Resources
muscular dystrophy MYOT* Myot   Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy GMPPB* Gmppb   Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B14 GMPPB* Gmppb   Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B15 DPM3* Dpm3   Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B2 POMT2* Pomt2   Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B3 POMGNT1* Pomgnt1   Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B4 FKTN* Fktn   Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type C12 POMK* Pomk   Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type C8 POMGNT2* Pomgnt2   Alliance of Genome Resources
myotonic dystrophy type 2 CNBP* Cnbp   Alliance of Genome Resources
neuroblastoma ARID1B* Arid1b   Alliance of Genome Resources
neuroblastoma CDKN2A* Cdkn2a   Alliance of Genome Resources
neuroblastoma CHAF1A* Chaf1a   Alliance of Genome Resources
neuroblastoma IGF1R* Igf1r   Alliance of Genome Resources
neuroblastoma KIF1B* Kif1b   Alliance of Genome Resources
neuroblastoma NME1* Nme1   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 ARID1A* Arid1a   Alliance of Genome Resources
neurofibrosarcoma MXI1* Mxi1   Alliance of Genome Resources
neuromuscular disease GPI* Gpi1   Alliance of Genome Resources
neuromyelitis optica HLA-DQB1*, HLA-DQB2 H2-Ab1   Alliance of Genome Resources
neuromyelitis optica HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5 H2-Eb1, H2-Eb2   Alliance of Genome Resources
neuromyelitis optica AQP4* Aqp4   Alliance of Genome Resources
neuropathy CTSS* Ctss   Alliance of Genome Resources
non-arteritic anterior ischemic optic neuropathy MTHFR* Mthfr   Alliance of Genome Resources
non-arteritic anterior ischemic optic neuropathy ITGB3* Itgb3   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
oculopharyngeal muscular dystrophy PABPN1* Pabpn1 1 model Alliance of Genome Resources
optic atrophy SSBP1* Ssbp1   Alliance of Genome Resources
optic atrophy MECR* Mecr   Alliance of Genome Resources
optic atrophy MCAT* Mcat   Alliance of Genome Resources
optic atrophy WFS1* Wfs1   Alliance of Genome Resources
optic atrophy MIEF1* Mief1   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 HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5 H2-Eb1, H2-Eb2   Alliance of Genome Resources
optic neuritis AQP4* Aqp4   Alliance of Genome Resources
optic neuritis CAT* Cat   Alliance of Genome Resources
optic neuritis GSTM1*, GSTM5 Gstm1, Gstm2, Gstm3, Gstm6   Alliance of Genome Resources
optic neuritis GSTT1* Gstt1   Alliance of Genome Resources
optic neuritis MOG* Mog   Alliance of Genome Resources
optic neuritis SOD2* Sod2   Alliance of Genome Resources
optic neuritis HLA-DQB1*, HLA-DQB2 H2-Ab1   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 ND1* mt-Nd1   Alliance of Genome Resources
peripheral nervous system disease GSTP1* Gstp1, Gstp2, Gstp3, Gstp-ps   Alliance of Genome Resources
peripheral nervous system disease GSTT1* Gstt1   Alliance of Genome Resources
peripheral nervous system neoplasm PTEN* Pten   Alliance of Genome Resources
plexiform neurofibroma NF1* Nf1   Alliance of Genome Resources
polyneuropathy SOD2* Sod2   Alliance of Genome Resources
polyneuropathy FCGR3A*, FCGR3B Fcgr4   Alliance of Genome Resources
polyneuropathy SOD3* Sod3   Alliance of Genome Resources
polyneuropathy HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5 H2-Eb1, H2-Eb2   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 HGF* Hgf   Alliance of Genome Resources
sciatic neuropathy SOD1* Sod1   Alliance of Genome Resources
sciatic neuropathy SERPINF1* Serpinf1   Alliance of Genome Resources
sciatic neuropathy LRP1* Lrp1   Alliance of Genome Resources
sciatic neuropathy IL1RN* Il1rn   Alliance of Genome Resources
Ullrich congenital muscular dystrophy 1A COL6A1* Col6a1   Alliance of Genome Resources
Ullrich congenital muscular dystrophy 1B COL6A2* Col6a2   Alliance of Genome Resources
Ullrich congenital muscular dystrophy 1C COL6A3* Col6a3   Alliance of Genome Resources
Ullrich congenital muscular dystrophy 2 COL12A1* Col12a1   Alliance of Genome Resources
Walker-Warburg syndrome POMT1* Pomt1   Alliance of Genome Resources
Walker-Warburg syndrome FKRP* Fkrp   Alliance of Genome Resources
Walker-Warburg syndrome FKTN* Fktn   Alliance of Genome Resources
Walker-Warburg syndrome POMT2* Pomt2   Alliance of Genome Resources
X-linked deafness 5 AIFM1* Aifm1   Alliance of Genome Resources
X-linked Emery-Dreifuss muscular dystrophy 1 EMD* Emd   Alliance of Genome Resources
X-linked Emery-Dreifuss muscular dystrophy 6 FHL1* Fhl1   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
  autosomal dominant limb-girdle muscular dystrophy type 1 Tg(Ckm-DNAJB6_ib*F93L)#Ccwe 1 model
  Charcot-Marie-Tooth disease axonal type 2F Tg(Thy1-HSPB1*S135F)#Lvdb 1 model
  Charcot-Marie-Tooth disease type 1A Tg(Pmp22)247Ueli 1 model
  Charcot-Marie-Tooth disease type 1A Tg(PMP22)C3Fbas 1 model
  Charcot-Marie-Tooth disease type 1A Tg(PMP22)C22Clh 1 model
  Charcot-Marie-Tooth disease type 1A Tg(PMP22)C61Clh 1 model
  Charcot-Marie-Tooth disease type 1A Tg(Pmp22)My41Clh 1 model
  Charcot-Marie-Tooth disease type 1A Tg(tetO/CMV-Pmp22)JP18Clh 1 model
  Charcot-Marie-Tooth disease type 1B Tg(Mpz)88.4Mfel 1 model
  Charcot-Marie-Tooth disease type 1B Tg(Mpz)88.1Mfel 1 model
  Charcot-Marie-Tooth disease type 1B Tg(Mpz)88.2Mfel 1 model
  Charcot-Marie-Tooth disease type 1B Tg(Mpz*S63X)30Mes 1 model
  Charcot-Marie-Tooth disease type 1B Tg(Mpz*S63X)31Mes 2 models
  Charcot-Marie-Tooth disease type 1C Tg(CMV-LITAF*W116G)#Lli 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 2A2A Tg(Eno2-MFN2*R94Q)L87Ugfm 1 model
  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
  Duchenne muscular dystrophy Tg(ACTA1-Ctss)1Jmol 1 model
  facioscapulohumeral muscular dystrophy Tg(ACTA1-FRG1)highRotu 1 model
  facioscapulohumeral muscular dystrophy Tg(ACTA1-FRG1)medRotu 1 model
  hereditary sensory neuropathy Tg(CAG-SPTLC1*C133W)8EAmcc 1 model
  Leber hereditary optic neuropathy Tg(LONP1-mt-ND4*,-mCherry*)#Jguy 1 model
  limb-girdle muscular dystrophy Tg(Ckm-Sgcg)4Mcn 1 model
  myotonic dystrophy type 1 Tg(HSA*LR)32aCath 1 model
  myotonic dystrophy type 1 Tg(DMWD,DMPK*,SIX5)1177Ggo 1 model
  myotonic dystrophy type 1 Tg(DMWD,DMPK*,SIX5)328Ggo 1 model
  myotonic dystrophy type 1 Tg(DMPK/tetO-EGFP/DMPK)5-313Masm 1 model
  myotonic dystrophy type 1 Tg(HSA*LR)32bCath 1 model
  myotonic dystrophy type 1 Tg(HSA*LR)41Cath 1 model
  myotonic dystrophy type 1 Tg(tetO-CUGBP1)3413Coop 1 model
  myotonic dystrophy type 1 Tg(DM15)26Bew 1 model
  myotonic dystrophy type 1 Tg(Ckm-CUGBP1)1039Coop 1 model
  myotonic dystrophy type 1 Tg(CAG-DMPK*)1323Coop 2 models
  myotonic dystrophy type 1 Tg(HSA*LR)21Cath 1 model
  myotonic dystrophy type 1 Tg(HSA*LR)20aCath 1 model
  myotonic dystrophy type 1 Tg(HSA*LR)20bCath 1 model
  neuroblastoma Tg(Th-MYCN)41Waw 14 models
  neuroblastoma Tg(rTH-Tag)20Dmc 1 model
  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
  oculopharyngeal muscular dystrophy Tg(ACTA1-PABPN1*A17)1Drub 1 model