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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 2
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Accession:DOID:0050539 term browser browse the term
Definition:A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. (DO)
Synonyms:exact_synonym: Charcot-Marie-Tooth disease, type II;   Charcot-Marie-Tooth, type 2;   HMSN II;   HMSN type II;   Hereditary Motor and Sensory Neuropathy Type II;   hereditary motor and sensory neuropathy Guadalajara neuronal type;   hereditary motor and sensory neuropathy Okinawa type;   hereditary motor and sensory neuropathy type 2
 primary_id: RDO:9002805
 xref: GARD:12431;   ORDO:64746
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:8554872
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 JBrowse link 2 187,964,100 188,022,847 RGD:8554872
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:8554872
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:8554872
G Cog4 component of oligomeric golgi complex 4 JBrowse link 19 43,358,057 43,391,828 RGD:8554872
G Col12a1 collagen type XII alpha 1 chain JBrowse link 8 87,042,820 87,150,701 RGD:8554872
G Ddx19a DEAD-box helicase 19A JBrowse link 19 43,251,510 43,271,865 RGD:8554872
G Ddx19b DEAD-box helicase 19B JBrowse link 19 43,217,199 43,246,196 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Fcsk fucose kinase JBrowse link 19 43,338,146 43,357,826 RGD:8554872
G Gars glycyl-tRNA synthetase JBrowse link 4 85,235,122 85,276,085 RGD:8554872
G Hspb1 heat shock protein family B (small) member 1 JBrowse link 12 23,839,390 23,841,051 RGD:8554872
G Hspb8 heat shock protein family B (small) member 8 JBrowse link 12 45,905,371 45,920,014 RGD:8554872
G Il34 interleukin 34 JBrowse link 19 40,855,537 40,905,007 RGD:8554872
G Khdc4 KH domain containing 4, pre-mRNA splicing factor JBrowse link 2 188,051,657 188,080,280 RGD:8554872
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:8554872
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 JBrowse link 2 187,911,530 187,914,930 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:8554872
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
G Mex3a mex-3 RNA binding family member A JBrowse link 2 187,893,678 187,902,546 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
G Pmf1 polyamine-modulated factor 1 JBrowse link 2 187,751,770 187,771,933 RGD:8554872
G Rab25 RAB25, member RAS oncogene family JBrowse link 2 187,903,301 187,909,398 RGD:8554872
G Rab7a RAB7A, member RAS oncogene family JBrowse link 4 119,910,461 119,963,065 RGD:8554872
G Rit1 Ras-like without CAAX 1 JBrowse link 2 188,087,486 188,099,444 RGD:8554872
G Rxfp4 relaxin family peptide/INSL5 receptor 4 JBrowse link 2 188,026,531 188,027,685 RGD:8554872
G Sema4a semaphorin 4A JBrowse link 2 187,799,568 187,823,014 RGD:8554872
G Sf3b3 splicing factor 3b, subunit 3 JBrowse link 19 43,392,071 43,429,582 RGD:8554872
G Slc25a44 solute carrier family 25, member 44 JBrowse link 2 187,772,013 187,786,829 RGD:8554872
G Ssr2 signal sequence receptor subunit 2 JBrowse link 2 187,951,316 187,960,067 RGD:8554872
G St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 JBrowse link 19 43,273,251 43,324,265 RGD:8554872
G Tfg trafficking from ER to golgi regulator JBrowse link 11 46,180,189 46,206,723 RGD:13592920
RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
G Ubqln4 ubiquilin 4 JBrowse link 2 187,915,701 187,931,035 RGD:8554872
Charcot-Marie-Tooth disease axonal type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:12738395
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2CC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nefh neurofilament heavy JBrowse link 14 85,181,572 85,191,557 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease axonal type 2F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspb1 heat shock protein family B (small) member 1 JBrowse link 12 23,839,390 23,841,051 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eloc elongin C JBrowse link 5 2,042,991 2,059,357 RGD:8554872
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:7240710
RGD:8554872
RGD:12738397
RGD:12738396
G Jph1 junctophilin 1 JBrowse link 5 1,417,414 1,511,754 RGD:7240710
RGD:8554872
G Ly96 lymphocyte antigen 96 JBrowse link 5 1,972,212 1,989,448 RGD:8554872
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:8554872
G Ube2w ubiquitin-conjugating enzyme E2W JBrowse link 5 29,798,845 29,812,777 RGD:8554872
Charcot-Marie-Tooth disease axonal type 2L term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspb8 heat shock protein family B (small) member 8 JBrowse link 12 45,905,371 45,920,014 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2N term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:7240710
RGD:8554872
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma JBrowse link 6 134,804,128 134,941,912 RGD:8554872
Charcot-Marie-Tooth disease axonal type 2P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2Q term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 JBrowse link 17 76,306,585 76,358,058 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2S term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ighmbp2 immunoglobulin mu DNA binding protein 2 JBrowse link 1 218,509,274 218,531,922 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2T term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 9 82,436,453 82,444,669 RGD:8554872
G Mme membrane metallo-endopeptidase JBrowse link 2 153,799,203 153,880,910 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease axonal type 2U term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mars1 methionyl-tRNA synthetase 1 JBrowse link 7 70,585,011 70,602,425 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Naglu N-acetyl-alpha-glucosaminidase JBrowse link 10 88,979,363 88,986,879 RGD:8554872
RGD:7240710
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:8554872
Charcot-Marie-Tooth disease axonal type 2X term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spg11 SPG11 vesicle trafficking associated, spatacsin JBrowse link 3 113,999,600 114,064,438 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2Z term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Morc2 MORC family CW-type zinc finger 2 JBrowse link 14 83,889,138 83,930,263 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 2A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:7240710
RGD:8554872
RGD:12738406
Charcot-Marie-Tooth disease type 2A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:12738379
RGD:8554872
RGD:11554173
Charcot-Marie-Tooth disease type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acad9 acyl-CoA dehydrogenase family, member 9 JBrowse link 2 122,782,051 122,806,166 RGD:8554872
G LOC100362908 hCG20001-like JBrowse link 4 119,572,669 119,626,852 RGD:8554872
G Rab7a RAB7A, member RAS oncogene family JBrowse link 4 119,910,461 119,963,065 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 2B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:1358482
RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 2B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gars glycyl-tRNA synthetase JBrowse link 4 85,235,122 85,276,085 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 2E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:7240710
RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:8554872
Charcot-Marie-Tooth disease type 2I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 2R term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trim2 tripartite motif-containing 2 JBrowse link 2 183,145,096 183,223,819 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 2Y term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:8554872
Charcot-Marie-Tooth disease, axonal type 2W term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hars1 histidyl-tRNA synthetase 1 JBrowse link 18 29,611,545 29,629,087 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease, Axonal, Type 2DD term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 2 204,003,742 204,032,023 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease, Axonal, Type 2EE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease, Type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:1601408
distal hereditary motor neuronopathy type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspb8 heat shock protein family B (small) member 8 JBrowse link 12 45,905,371 45,920,014 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      musculoskeletal system disease 4281
        neuromuscular disease 1521
          Charcot-Marie-Tooth disease 317
            Charcot-Marie-Tooth disease type 2 62
              Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2K 1
              Charcot-Marie-Tooth Disease, Axonal, Type 2DD 1
              Charcot-Marie-Tooth Disease, Axonal, Type 2EE 1
              Charcot-Marie-Tooth Disease, Type 2A 1
              Charcot-Marie-Tooth disease axonal type 2C 2
              Charcot-Marie-Tooth disease axonal type 2CC 1
              Charcot-Marie-Tooth disease axonal type 2F 1
              Charcot-Marie-Tooth disease axonal type 2H 0
              Charcot-Marie-Tooth disease axonal type 2K 6
              Charcot-Marie-Tooth disease axonal type 2L 1
              Charcot-Marie-Tooth disease axonal type 2N 1
              Charcot-Marie-Tooth disease axonal type 2O 2
              Charcot-Marie-Tooth disease axonal type 2P 1
              Charcot-Marie-Tooth disease axonal type 2Q 1
              Charcot-Marie-Tooth disease axonal type 2S 1
              Charcot-Marie-Tooth disease axonal type 2T 2
              Charcot-Marie-Tooth disease axonal type 2U 1
              Charcot-Marie-Tooth disease axonal type 2V 3
              Charcot-Marie-Tooth disease axonal type 2X 1
              Charcot-Marie-Tooth disease axonal type 2Z 1
              Charcot-Marie-Tooth disease type 2A1 1
              Charcot-Marie-Tooth disease type 2A2 + 1
              Charcot-Marie-Tooth disease type 2B 3
              Charcot-Marie-Tooth disease type 2B1 1
              Charcot-Marie-Tooth disease type 2B2 1
              Charcot-Marie-Tooth disease type 2D 1
              Charcot-Marie-Tooth disease type 2E 2
              Charcot-Marie-Tooth disease type 2I 1
              Charcot-Marie-Tooth disease type 2J 1
              Charcot-Marie-Tooth disease type 2R 1
              Charcot-Marie-Tooth disease type 2Y 1
              Charcot-Marie-Tooth disease, axonal type 2W 1
              distal hereditary motor neuronopathy type 2A 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        central nervous system disease 8101
          neurodegenerative disease 2692
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 456
                Charcot-Marie-Tooth disease 317
                  Charcot-Marie-Tooth disease type 2 62
                    Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2K 1
                    Charcot-Marie-Tooth Disease, Axonal, Type 2DD 1
                    Charcot-Marie-Tooth Disease, Axonal, Type 2EE 1
                    Charcot-Marie-Tooth Disease, Type 2A 1
                    Charcot-Marie-Tooth disease axonal type 2C 2
                    Charcot-Marie-Tooth disease axonal type 2CC 1
                    Charcot-Marie-Tooth disease axonal type 2F 1
                    Charcot-Marie-Tooth disease axonal type 2H 0
                    Charcot-Marie-Tooth disease axonal type 2K 6
                    Charcot-Marie-Tooth disease axonal type 2L 1
                    Charcot-Marie-Tooth disease axonal type 2N 1
                    Charcot-Marie-Tooth disease axonal type 2O 2
                    Charcot-Marie-Tooth disease axonal type 2P 1
                    Charcot-Marie-Tooth disease axonal type 2Q 1
                    Charcot-Marie-Tooth disease axonal type 2S 1
                    Charcot-Marie-Tooth disease axonal type 2T 2
                    Charcot-Marie-Tooth disease axonal type 2U 1
                    Charcot-Marie-Tooth disease axonal type 2V 3
                    Charcot-Marie-Tooth disease axonal type 2X 1
                    Charcot-Marie-Tooth disease axonal type 2Z 1
                    Charcot-Marie-Tooth disease type 2A1 1
                    Charcot-Marie-Tooth disease type 2A2 + 1
                    Charcot-Marie-Tooth disease type 2B 3
                    Charcot-Marie-Tooth disease type 2B1 1
                    Charcot-Marie-Tooth disease type 2B2 1
                    Charcot-Marie-Tooth disease type 2D 1
                    Charcot-Marie-Tooth disease type 2E 2
                    Charcot-Marie-Tooth disease type 2I 1
                    Charcot-Marie-Tooth disease type 2J 1
                    Charcot-Marie-Tooth disease type 2R 1
                    Charcot-Marie-Tooth disease type 2Y 1
                    Charcot-Marie-Tooth disease, axonal type 2W 1
                    distal hereditary motor neuronopathy type 2A 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.