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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;   ICD9CM:356.0;   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 AARS1 alanyl-tRNA synthetase 1 JBrowse link 16 70,252,295 70,289,509 RGD:8554872
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 JBrowse link 1 155,946,839 155,991,262 RGD:8554872
G BGLAP bone gamma-carboxyglutamate protein JBrowse link 1 156,242,184 156,243,317 RGD:8554872
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 11 62,690,262 62,709,619 RGD:8554872
G COG4 component of oligomeric golgi complex 4 JBrowse link 16 70,480,567 70,523,554 RGD:8554872
G COL12A1 collagen type XII alpha 1 chain JBrowse link 6 75,084,326 75,206,262 RGD:8554872
G DDX19A DEAD-box helicase 19A JBrowse link 16 70,346,829 70,373,383 RGD:8554872
G DDX19B DEAD-box helicase 19B JBrowse link 16 70,289,767 70,335,305 RGD:8554872
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 101,964,573 102,056,443 RGD:8554872
G FCSK fucose kinase JBrowse link 16 70,454,590 70,480,274 RGD:8554872
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 7 30,594,735 30,634,033 RGD:8554872
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) JBrowse link 11 62,690,262 62,727,384 RGD:8554872
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 7 76,302,673 76,304,292 RGD:8554872
G HSPB8 heat shock protein family B (small) member 8 JBrowse link 12 119,178,931 119,194,746 RGD:8554872
G IL34 interleukin 34 JBrowse link 16 70,579,895 70,660,682 RGD:8554872
G KHDC4 KH domain containing 4, pre-mRNA splicing factor JBrowse link 1 155,913,045 155,934,413 RGD:8554872
G KIF1B kinesin family member 1B JBrowse link 1 10,210,570 10,381,603 RGD:8554872
G LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 JBrowse link 1 156,054,782 156,058,506 RGD:8554872
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:8554872
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 127,451,486 127,503,501 RGD:8554872
G MED25 mediator complex subunit 25 JBrowse link 19 49,818,279 49,840,384 RGD:8554872
G MEX3A mex-3 RNA binding family member A JBrowse link 1 156,072,013 156,082,465 RGD:8554872
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:8554872
G MIR4497 microRNA 4497 JBrowse link 12 109,833,348 109,833,436 RGD:8554872
G MIR6738 microRNA 6738 JBrowse link 1 155,951,273 155,951,336 RGD:8554872
G MIR6800 microRNA 6800 JBrowse link 19 49,832,018 49,832,099 RGD:8554872
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,934,717 11,975,537 RGD:8554872
G PMF1 polyamine modulated factor 1 JBrowse link 1 156,212,988 156,240,077 RGD:8554872
G PMF1-BGLAP PMF1-BGLAP readthrough JBrowse link 1 156,212,988 156,243,332 RGD:8554872
G RAB25 RAB25, member RAS oncogene family JBrowse link 1 156,061,160 156,070,504 RGD:8554872
G RAB7A RAB7A, member RAS oncogene family JBrowse link 3 128,726,183 128,814,798 RGD:8554872
G RIT1 Ras like without CAAX 1 JBrowse link 1 155,897,808 155,911,349 RGD:8554872
G RXFP4 relaxin family peptide/INSL5 receptor 4 JBrowse link 1 155,941,638 155,943,087 RGD:8554872
G SCARNA4 small Cajal body-specific RNA 4 JBrowse link 1 155,925,958 155,926,086 RGD:8554872
G SEMA4A semaphorin 4A JBrowse link 1 156,149,672 156,177,751 RGD:8554872
G SF3B3 splicing factor 3b subunit 3 JBrowse link 16 70,523,816 70,577,668 RGD:8554872
G SLC25A44 solute carrier family 25 member 44 JBrowse link 1 156,193,932 156,212,796 RGD:8554872
G SNORA80E small nucleolar RNA, H/ACA box 80E JBrowse link 1 155,919,909 155,920,042 RGD:8554872
G SNORD111 small nucleolar RNA, C/D box 111 JBrowse link 16 70,538,005 70,538,098 RGD:8554872
G SNORD111B small nucleolar RNA, C/D box 111B JBrowse link 16 70,529,499 70,529,599 RGD:8554872
G SSR2 signal sequence receptor subunit 2 JBrowse link 1 156,009,048 156,020,951 RGD:8554872
G ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 JBrowse link 16 70,375,977 70,439,100 RGD:8554872
G TFG trafficking from ER to golgi regulator JBrowse link 3 100,709,290 100,748,967 RGD:13592920
RGD:8554872
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 109,783,087 109,833,398 RGD:8554872
G UBQLN4 ubiquilin 4 JBrowse link 1 156,033,129 156,053,798 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 8 74,350,383 74,488,872 RGD:12738395
G NEFH neurofilament heavy JBrowse link 22 29,480,218 29,491,390 RGD:8554872
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 109,783,087 109,833,398 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 22 29,480,218 29,491,390 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 7 76,302,673 76,304,292 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease axonal type 2K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELOC elongin C JBrowse link 8 73,945,119 73,972,287 RGD:8554872
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 8 74,350,383 74,488,872 RGD:12738396
RGD:8554872
RGD:7240710
RGD:12738397
G JPH1 junctophilin 1 JBrowse link 8 74,234,700 74,321,540 RGD:7240710
RGD:8554872
G LINC01617 long intergenic non-protein coding RNA 1617 JBrowse link 8 73,878,982 73,883,074 RGD:8554872
G LY96 lymphocyte antigen 96 JBrowse link 8 73,991,275 74,099,807 RGD:8554872
G TMEM70 transmembrane protein 70 JBrowse link 8 73,976,142 73,982,783 RGD:8554872
G UBE2W ubiquitin conjugating enzyme E2 W JBrowse link 8 73,780,096 73,878,862 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 12 119,178,931 119,194,746 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease axonal type 2N term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS1 alanyl-tRNA synthetase 1 JBrowse link 16 70,252,295 70,289,509 RGD:8554872
RGD:7240710
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 14 101,964,573 102,056,443 RGD:8554872
RGD:7240710
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma JBrowse link 14 101,760,573 101,927,992 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 9 127,451,486 127,503,501 RGD:8554872
RGD:7240710
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 10 12,068,954 12,123,221 RGD:8554872
RGD:7240710
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 11 68,903,855 68,940,601 RGD:8554872
RGD:7240710
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 2 219,279,366 219,286,895 RGD:8554872
G MME membrane metalloendopeptidase JBrowse link 3 155,024,124 155,183,729 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 12 57,488,068 57,516,655 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease axonal type 2V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:8554872
G NAGLU N-acetyl-alpha-glucosaminidase JBrowse link 17 42,534,238 42,544,449 RGD:8554872
RGD:7240710
G NEFL neurofilament light JBrowse link 8 24,950,955 24,956,612 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 15 44,562,696 44,663,678 RGD:8554872
RGD:7240710
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 22 30,925,130 30,968,774 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 2A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIF1B kinesin family member 1B JBrowse link 1 10,210,570 10,381,603 RGD:12738406
RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease Type 2A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:12738379
RGD:8554872
RGD:11554173
Charcot-Marie-Tooth disease type 2A2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 2A2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:8554872
RGD:7240710
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 3 128,879,490 128,913,114 RGD:8554872
G CFAP92 cilia and flagella associated protein 92 (putative) JBrowse link 3 128,909,873 129,032,431 RGD:8554872
G MIR12124 microRNA 12124 JBrowse link 3 128,846,808 128,846,908 RGD:8554872
G RAB7A RAB7A, member RAS oncogene family JBrowse link 3 128,726,183 128,814,798 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 1 156,082,546 156,140,089 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 19 49,818,279 49,840,384 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 7 30,594,735 30,634,033 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 2DD term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 1 116,372,986 116,410,259 RGD:8554872
RGD:7240710
G ATP1A1-AS1 ATP1A1 antisense RNA 1 JBrowse link 1 116,392,865 116,418,622 RGD:8554872
Charcot-Marie-Tooth disease type 2E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEFL neurofilament light JBrowse link 8 24,950,955 24,956,612 RGD:8554872
RGD:7240710
G PMP22 peripheral myelin protein 22 JBrowse link 17 15,229,777 15,265,326 RGD:8554872
Charcot-Marie-Tooth disease type 2EE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPV17 mitochondrial inner membrane protein MPV17 JBrowse link 2 27,309,492 27,323,097 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 2I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 1 161,303,594 161,309,969 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 1 161,303,594 161,309,969 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 2R term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRIM2 tripartite motif containing 2 JBrowse link 4 153,152,163 153,339,317 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 2Y term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VCP valosin containing protein JBrowse link 9 35,056,064 35,072,668 RGD:8554872
RGD:7240710
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 5 140,673,904 140,691,727 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 1 11,980,181 12,013,515 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 12 119,178,931 119,194,746 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16528
    disease of anatomical entity 15508
      musculoskeletal system disease 5222
        neuromuscular disease 1661
          Charcot-Marie-Tooth disease 348
            Charcot-Marie-Tooth disease type 2 74
              Charcot-Marie-Tooth Disease, Type 2A + 2
              Charcot-Marie-Tooth disease axonal type 2C 3
              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 7
              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 2B 4
              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 2DD 2
              Charcot-Marie-Tooth disease type 2E 2
              Charcot-Marie-Tooth disease type 2EE 1
              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 16528
    disease of anatomical entity 15508
      nervous system disease 11782
        central nervous system disease 9927
          neurodegenerative disease 3190
            Nervous System Heredodegenerative Disorders 1980
              motor peripheral neuropathy 500
                Charcot-Marie-Tooth disease 348
                  Charcot-Marie-Tooth disease type 2 74
                    Charcot-Marie-Tooth Disease, Type 2A + 2
                    Charcot-Marie-Tooth disease axonal type 2C 3
                    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 7
                    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 2B 4
                    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 2DD 2
                    Charcot-Marie-Tooth disease type 2E 2
                    Charcot-Marie-Tooth disease type 2EE 1
                    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.