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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 4
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Accession:DOID:0050541 term browser browse the term
Definition:A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: Charcot-Marie-Tooth disease, type IV;   Charcot-Marie-Tooth, type 4;   hereditary motor and sensory neuropathy;   hereditary motor and sensory neuropathy 4
 primary_id: RDO:9002807
 xref: GARD:12440;   ORDO:64749
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Charcot-Marie-Tooth disease type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccn4 cellular communication network factor 4 JBrowse link 7 107,695,227 107,723,759 RGD:8554872
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Fgd4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 11 88,699,222 88,796,677 RGD:8554872
G Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 20 45,922,806 46,044,754 RGD:8554872
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:8554872
G Hspb1 heat shock protein family B (small) member 1 JBrowse link 12 23,839,390 23,841,051 RGD:8554872
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 7 106,714,479 107,009,639 RGD:8554872
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:8554872
G Lrrc6 leucine rich repeat containing 6 JBrowse link 7 107,130,402 107,231,507 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 Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Morc2 MORC family CW-type zinc finger 2 JBrowse link 14 83,889,138 83,930,263 RGD:8554872
G Mtmr2 myotubularin related protein 2 JBrowse link 8 12,283,471 12,334,014 RGD:8554872
G Ndrg1 N-myc downstream regulated 1 JBrowse link 7 107,734,326 107,775,701 RGD:8554872
G Phf20l1 PHD finger protein 20-like 1 JBrowse link 7
7
107,406,948
108,613,731
107,445,219
108,759,741
RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
G Prx periaxin JBrowse link 1 84,302,074 84,324,560 RGD:8554872
G Sbf1 SET binding factor 1 JBrowse link 7 130,261,552 130,288,566 RGD:8554872
G Sbf2 SET binding factor 2 JBrowse link 1 174,948,361 175,420,161 RGD:8554872
G Septin9 septin 9 JBrowse link 10 106,208,308 106,340,747 RGD:8554872
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 18 57,286,266 57,403,926 RGD:8554872
G Sla src-like adaptor JBrowse link 7 107,585,055 107,604,950 RGD:8554872
G Tg thyroglobulin JBrowse link 7 107,467,260 107,652,897 RGD:8554872
G Tmem71 transmembrane protein 71 JBrowse link 7 107,264,235 107,392,808 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
Charcot-Marie-Tooth disease type 4A 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:7240710
RGD:8554872
RGD:12738393
RGD:12738391
G Jph1 junctophilin 1 JBrowse link 5 1,417,414 1,511,754 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
Charcot-Marie-Tooth Disease Type 4A, Axonal Form 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:7240710
RGD:8554872
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:11554173
Charcot-Marie-Tooth disease type 4B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtmr2 myotubularin related protein 2 JBrowse link 8 12,283,471 12,334,014 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sbf2 SET binding factor 2 JBrowse link 1 174,948,361 175,420,161 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4B3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sbf1 SET binding factor 1 JBrowse link 7 130,261,552 130,288,566 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 18 57,286,266 57,403,926 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndrg1 N-myc downstream regulated 1 JBrowse link 7 107,734,326 107,775,701 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 4E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Egr2 early growth response 2 JBrowse link 20 22,452,170 22,461,018 RGD:7240710
RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
Charcot-Marie-Tooth disease type 4F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prx periaxin JBrowse link 1 84,302,074 84,324,560 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hk1 hexokinase 1 JBrowse link 20 31,911,460 31,979,780 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgd4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 11 88,699,222 88,796,677 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 20 45,922,806 46,044,754 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      musculoskeletal system disease 5118
        neuromuscular disease 1565
          Charcot-Marie-Tooth disease 320
            Charcot-Marie-Tooth disease type 4 34
              Charcot-Marie-Tooth Disease Type 4A, Axonal Form 2
              Charcot-Marie-Tooth disease type 4A 4
              Charcot-Marie-Tooth disease type 4B1 1
              Charcot-Marie-Tooth disease type 4B2 1
              Charcot-Marie-Tooth disease type 4B3 1
              Charcot-Marie-Tooth disease type 4C 1
              Charcot-Marie-Tooth disease type 4D 1
              Charcot-Marie-Tooth disease type 4E 3
              Charcot-Marie-Tooth disease type 4F 1
              Charcot-Marie-Tooth disease type 4G 1
              Charcot-Marie-Tooth disease type 4H 1
              Charcot-Marie-Tooth disease type 4J 1
              Charcot-Marie-Tooth disease type 4K 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          neurodegenerative disease 2942
            Nervous System Heredodegenerative Disorders 1728
              motor peripheral neuropathy 460
                Charcot-Marie-Tooth disease 320
                  Charcot-Marie-Tooth disease type 4 34
                    Charcot-Marie-Tooth Disease Type 4A, Axonal Form 2
                    Charcot-Marie-Tooth disease type 4A 4
                    Charcot-Marie-Tooth disease type 4B1 1
                    Charcot-Marie-Tooth disease type 4B2 1
                    Charcot-Marie-Tooth disease type 4B3 1
                    Charcot-Marie-Tooth disease type 4C 1
                    Charcot-Marie-Tooth disease type 4D 1
                    Charcot-Marie-Tooth disease type 4E 3
                    Charcot-Marie-Tooth disease type 4F 1
                    Charcot-Marie-Tooth disease type 4G 1
                    Charcot-Marie-Tooth disease type 4H 1
                    Charcot-Marie-Tooth disease type 4J 1
                    Charcot-Marie-Tooth disease type 4K 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.