Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease dominant intermediate C
go back to main search page
Accession:DOID:0110199 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35. (DO)
Synonyms:exact_synonym: CMTDIC;   Charcot-Marie-Tooth neuropathy, dominant intermediate C;   DI-CMTC;   autosomal dominant intermediate Charcot-Marie-Tooth disease type C
 primary_id: MESH:C564257
 alt_id: OMIM:608323;   RDO:0013282
 xref: ORDO:100045
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Charcot-Marie-Tooth disease dominant intermediate C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A3galt2 alpha 1,3-galactosyltransferase 2 JBrowse link 5 146,933,592 146,945,882 RGD:8554872
G Adprhl2 ADP-ribosylhydrolase like 2 JBrowse link 5 144,336,312 144,341,586 RGD:8554872
G Ago1 argonaute RISC component 1 JBrowse link 5 144,444,390 144,479,430 RGD:8554872
G Ago3 argonaute RISC catalytic component 3 JBrowse link 5 144,355,792 144,436,509 RGD:8554872
G Ago4 argonaute RISC component 4 JBrowse link 5 144,501,875 144,557,165 RGD:8554872
G Ak2 adenylate kinase 2 JBrowse link 5 147,185,474 147,204,050 RGD:8554872
G Akirin1 akirin 1 JBrowse link 5 141,415,226 141,430,627 RGD:8554872
G Akr1a1 aldo-keto reductase family 1 member A1 JBrowse link 5 135,482,068 135,498,693 RGD:8554872
G Armh1 armadillo-like helical domain containing 1 JBrowse link 5 136,073,056 136,112,344 RGD:8554872
G Artn artemin JBrowse link 5 136,759,717 136,765,036 RGD:8554872
G Atp6v0b ATPase H+ transporting V0 subunit B JBrowse link 5 136,718,352 136,719,868 RGD:8554872
G Azin2 antizyme inhibitor 2 JBrowse link 5 147,120,128 147,148,576 RGD:8554872
G B4galt2 beta-1,4-galactosyltransferase 2 JBrowse link 5 136,707,510 136,717,345 RGD:8554872
G Best4 bestrophin 4 JBrowse link 5 136,013,978 136,017,742 RGD:8554872
G Bmp8a bone morphogenetic protein 8a JBrowse link 5 141,007,462 141,033,511 RGD:8554872
G Btbd19 BTB domain containing 19 JBrowse link 5 135,988,549 135,994,985 RGD:8554872
G Cap1 cyclase associated actin cytoskeleton regulatory protein 1 JBrowse link 5 140,559,195 140,585,494 RGD:8554872
G Ccdc17 coiled-coil domain containing 17 JBrowse link 5 135,440,276 135,445,794 RGD:8554872
G Ccdc24 coiled-coil domain containing 24 JBrowse link 5 136,691,655 136,707,197 RGD:8554872
G Ccdc30 coiled-coil domain containing 30 JBrowse link 5 138,364,211 138,462,922 RGD:8554872
G Cdc20 cell division cycle 20 JBrowse link 5 137,260,728 137,264,931 RGD:8554872
G Cdca8 cell division cycle associated 8 JBrowse link 5 142,911,310 142,933,536 RGD:8554872
G Cfap57 cilia and flagella associated protein 57 JBrowse link 5
5
137,383,065
137,652,118
137,458,594
137,670,067
RGD:8554872
G Cited4 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4 JBrowse link 5 139,597,731 139,598,622 RGD:8554872
G Cldn19 claudin 19 JBrowse link 5 138,300,692 138,307,982 RGD:8554872
G Clspn claspin JBrowse link 5 144,577,670 144,617,507 RGD:8554872
G Col8a2 collagen type VIII alpha 2 chain JBrowse link 5 144,308,527 144,335,142 RGD:8554872
G Col9a2 collagen type IX alpha 2 chain JBrowse link 5 139,962,684 139,979,865 RGD:8554872
G Csf3r colony stimulating factor 3 receptor JBrowse link 5 144,031,353 144,051,966 RGD:8554872
G Csmd2 CUB and Sushi multiple domains 2 JBrowse link 5 146,091,167 146,743,436 RGD:8554872
G Ctps1 CTP synthase 1 JBrowse link 5 139,475,934 139,505,065 RGD:8554872
G Dlgap3 DLG associated protein 3 JBrowse link 5 145,234,757 145,304,536 RGD:8554872
G Dmap1 DNA methyltransferase 1-associated protein 1 JBrowse link 5 136,533,791 136,541,795 RGD:8554872
G Dnali1 dynein, axonemal, light intermediate chain 1 JBrowse link 5 143,053,365 143,062,203 RGD:8554872
G Dph2 diphthamide biosynthesis 2 JBrowse link 5 136,723,398 136,726,358 RGD:8554872
G Ebna1bp2 EBNA1 binding protein 2 JBrowse link 5 137,458,692 137,463,255 RGD:8554872
G Edn2 endothelin 2 JBrowse link 5 139,098,472 139,106,396 RGD:8554872
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma JBrowse link 5 135,882,946 135,949,276 RGD:8554872
G Elovl1 ELOVL fatty acid elongase 1 JBrowse link 5 137,255,868 137,260,486 RGD:8554872
G Epha10 EPH receptor A10 JBrowse link 5 142,875,171 142,910,537 RGD:8554872
G Eri3 ERI1 exoribonuclease family member 3 JBrowse link 5 136,406,009 136,533,408 RGD:8554872
G Ermap erythroblast membrane associated protein (Scianna blood group) JBrowse link 5 138,227,168 138,240,509 RGD:8554872
G Eva1b eva-1 homolog B JBrowse link 5 144,160,026 144,161,421 RGD:8554872
G Exo5 exonuclease 5 JBrowse link 5 139,849,930 139,853,247 RGD:8554872
G Fam183a family with sequence similarity 183 member A JBrowse link 10 44,736,547 44,746,907 RGD:8554872
G Fhl3 four and a half LIM domains 3 JBrowse link 5 142,688,962 142,696,330 RGD:8554872
G Fndc5 fibronectin type III domain containing 5 JBrowse link 5 147,323,240 147,330,266 RGD:8554872
G Foxj3 forkhead box J3 JBrowse link 5 138,587,968 138,676,948 RGD:8554872
G Foxo6 forkhead box O6 JBrowse link 5 139,208,153 139,227,288 RGD:8554872
G Gja4 gap junction protein, alpha 4 JBrowse link 5 145,374,688 145,377,221 RGD:8554872
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:8554872
G Gjb4 gap junction protein, beta 4 JBrowse link 5 145,416,343 145,421,122 RGD:8554872
G Gjb5 gap junction protein, beta 5 JBrowse link 5 145,422,034 145,440,558 RGD:8554872
G Gnl2 G protein nucleolar 2 JBrowse link 5 143,027,970 143,053,418 RGD:8554872
G Gpbp1l1 GC-rich promoter binding protein 1-like 1 JBrowse link 5 135,398,926 135,439,772 RGD:8554872
G Grik3 glutamate ionotropic receptor kainate type subunit 3 JBrowse link 5 143,500,441 143,715,546 RGD:8554872
G Guca2a guanylate cyclase activator 2A JBrowse link 5 138,685,634 138,687,476 RGD:8554872
G Guca2b guanylate cyclase activator 2B JBrowse link 5 138,695,591 138,697,641 RGD:8554872
G Hectd3 HECT domain E3 ubiquitin protein ligase 3 JBrowse link 5 135,860,578 135,870,535 RGD:8554872
G Heyl hes-related family bHLH transcription factor with YRPW motif-like JBrowse link 5 140,923,914 140,940,905 RGD:8554872
G Hivep3 human immunodeficiency virus type I enhancer binding protein 3 JBrowse link 5 138,774,501 139,077,403 RGD:8554872
G Hmgb4 high-mobility group box 4 JBrowse link 5 146,445,545 146,446,227 RGD:8554872
G Hpca hippocalcin JBrowse link 5 147,295,124 147,305,757 RGD:8554872
G Hpcal4 hippocalcin-like 4 JBrowse link 5 140,870,127 140,882,242 RGD:8554872
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like JBrowse link 5 135,675,826 135,677,432 RGD:8554872
G Hyi hydroxypyruvate isomerase JBrowse link 5 137,189,440 137,192,125 RGD:8554872
G Inpp5b inositol polyphosphate-5-phosphatase B JBrowse link 5 142,731,767 142,796,305 RGD:8554872
G Ipo13 importin 13 JBrowse link 5 136,728,744 136,749,187 RGD:8554872
G Ipp intracisternal A particle-promoted polypeptide JBrowse link 5 135,351,767 135,390,363 RGD:8554872
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 5 139,625,783 139,677,300 RGD:8554872
G Kdm4a lysine demethylase 4A JBrowse link 5 136,967,650 137,014,402 RGD:8554872
G Kif2c kinesin family member 2C JBrowse link 5 136,027,923 136,053,268 RGD:8554872
G Klf17 Kruppel-like factor 17 JBrowse link 5 136,602,472 136,610,058 RGD:8554872
G LOC100294508 dyslexia susceptibility 2-like JBrowse link 5 144,779,306 144,872,271 RGD:8554872
G LOC100361083 hypothetical LOC100361083 JBrowse link 5 141,096,801 141,100,963 RGD:8554872
G LOC100912566 UPF0500 protein C1orf216 homolog JBrowse link 5 146,320,693 146,342,159 RGD:8554872
G LOC682102 hypothetical protein LOC682102 JBrowse link 5 146,023,695 146,069,623 RGD:8554872
G Lsm10 LSM10, U7 small nuclear RNA associated JBrowse link 5 144,106,339 144,108,703 RGD:8554872
G Macf1 microtubule-actin crosslinking factor 1 JBrowse link 5 141,039,455 141,363,524 RGD:8554872
G Maneal mannosidase, endo-alpha-like JBrowse link 5 142,850,139 142,857,292 RGD:8554872
G Map7d1 MAP7 domain containing 1 JBrowse link 5 144,250,416 144,274,981 RGD:8554872
G Mast2 microtubule associated serine/threonine kinase 2 JBrowse link 5 135,149,336 135,285,337 RGD:8554872
G Meaf6 MYST/Esa1-associated factor 6 JBrowse link 5 143,081,298 143,103,225 RGD:8554872
G Mfsd2a major facilitator superfamily domain containing 2A JBrowse link 5 140,642,865 140,657,759 RGD:8554872
G Mir30c1 microRNA 30c-1 JBrowse link 5 139,699,877 139,699,965 RGD:8554872
G Mmachc metabolism of cobalamin associated C JBrowse link 5 135,555,587 135,561,723 RGD:8554872
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link 5 137,268,412 137,282,032 RGD:8554872
G Mrps15 mitochondrial ribosomal protein S15 JBrowse link 5 144,054,452 144,065,045 RGD:8554872
G Mtf1 metal-regulatory transcription factor 1 JBrowse link 5 142,797,340 142,843,896 RGD:8554872
G Mutyh mutY DNA glycosylase JBrowse link 5 135,663,328 135,675,348 RGD:8554872
G Mycbp Myc binding protein JBrowse link 5 141,560,192 141,567,399 RGD:8554872
G Mycl MYCL proto-oncogene, bHLH transcription factor JBrowse link 5 140,691,947 140,698,837 RGD:8554872
G Nasp nuclear autoantigenic sperm protein JBrowse link 5 135,446,485 135,472,113 RGD:8554872
G Ncdn neurochondrin JBrowse link 5 144,769,452 144,779,271 RGD:8554872
G Ndufs5 NADH:ubiquinone oxidoreductase subunit S5 JBrowse link 5 141,390,577 141,405,507 RGD:8554872
G Nfyc nuclear transcription factor Y subunit gamma JBrowse link 5 139,687,442 139,760,154 RGD:8554872
G Nt5c1a 5'-nucleotidase, cytosolic IA JBrowse link 5 140,888,862 140,909,322 RGD:8554872
G Oscp1 organic solute carrier partner 1 JBrowse link 5 144,067,391 144,099,693 RGD:8554872
G Oxct2b 3-oxoacid CoA transferase 2B JBrowse link 5 140,813,957 140,815,711 RGD:8554872
G P3h1 prolyl 3-hydroxylase 1 JBrowse link 5 138,279,597 138,294,280 RGD:8554872
G Pabpc4 poly(A) binding protein, cytoplasmic 4 JBrowse link 5 140,978,893 140,994,732 RGD:8554872
G Phc2 polyhomeotic homolog 2 JBrowse link 5 146,832,552 146,931,444 RGD:8554872
G Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 JBrowse link 5 135,069,972 135,145,633 RGD:8554872
G Plk3 polo-like kinase 3 JBrowse link 5 135,997,725 136,002,900 RGD:8554872
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
G Pou3f1 POU class 3 homeobox 1 JBrowse link 5 142,643,599 142,646,580 RGD:8554872
G Ppcs phosphopantothenoylcysteine synthetase JBrowse link 5 138,466,298 138,470,108 RGD:8554872
G Ppie peptidylprolyl isomerase E JBrowse link 5 140,822,141 140,835,244 RGD:8554872
G Ppih peptidylprolyl isomerase H JBrowse link 5 138,343,934 138,361,743 RGD:8554872
G Ppt1 palmitoyl-protein thioesterase 1 JBrowse link 5 140,538,260 140,558,163 RGD:8554872
G Prdx1 peroxiredoxin 1 JBrowse link 5 135,536,413 135,551,986 RGD:8554872
G Psmb2 proteasome 20S subunit beta 2 JBrowse link 5 144,702,004 144,734,220 RGD:8554872
G Ptch2 patched 2 JBrowse link 5 135,962,252 135,983,816 RGD:8554872
G Ptprf protein tyrosine phosphatase, receptor type, F JBrowse link 5 137,036,936 137,112,930 RGD:8554872
G RGD1305347 similar to RIKEN cDNA 2610528J11 JBrowse link 5 137,356,777 137,360,636 RGD:8554872
G RGD1559909 RGD1559909 JBrowse link 5 142,844,079 142,845,116 RGD:8554872
G RGD1560436 similar to hypothetical protein FLJ20508 JBrowse link 5 142,933,619 142,940,807 RGD:8554872
G RGD1564804 similar to chromosome 1 open reading frame 50 JBrowse link 5 138,274,907 138,279,285 RGD:8554872
G Rhbdl2 rhomboid like 2 JBrowse link 5 141,462,579 141,511,893 RGD:8554872
G Rimkla ribosomal modification protein rimK-like family member A JBrowse link 5 138,518,559 138,545,577 RGD:8554872
G Rims3 regulating synaptic membrane exocytosis 3 JBrowse link 5 139,790,395 139,819,014 RGD:8554872
G Rlf rearranged L-myc fusion JBrowse link 5 140,107,144 140,162,698 RGD:8554872
G Rnf19b ring finger protein 19B JBrowse link 5 147,246,032 147,270,892 RGD:8554872
G Rnf220 ring finger protein 220 JBrowse link 5 136,129,457 136,351,752 RGD:8554872
G Rps8 ribosomal protein S8 JBrowse link 5 136,020,941 136,023,511 RGD:8554872
G Rragc Ras-related GTP binding C JBrowse link 5 141,572,536 141,590,784 RGD:8554872
G Rspo1 R-spondin 1 JBrowse link 5 142,986,526 143,007,847 RGD:8554872
G S100pbp S100P binding protein JBrowse link 5 147,333,890 147,375,151 RGD:8554872
G Scmh1 Scm polycomb group protein homolog 1 JBrowse link 5 139,379,256 139,466,805 RGD:8554872
G Sf3a3 splicing factor 3a, subunit 3 JBrowse link 5 142,702,721 142,722,350 RGD:8554872
G Sfpq splicing factor proline and glutamine rich JBrowse link 5 145,079,803 145,088,517 RGD:8554872
G Sh3d21 SH3 domain containing 21 JBrowse link 5 144,161,881 144,178,161 RGD:8554872
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:8554872
G Slc6a9 solute carrier family 6 member 9 JBrowse link 5 136,669,674 136,703,702 RGD:8554872
G Slfnl1 schlafen-like 1 JBrowse link 5 139,467,933 139,473,599 RGD:8554872
G Smap2 small ArfGAP2 JBrowse link 5 139,885,321 139,931,366 RGD:8554872
G Smim12 small integral membrane protein 12 JBrowse link 5 145,311,317 145,315,185 RGD:8554872
G Snip1 Smad nuclear interacting protein 1 JBrowse link 15 19,275,273 19,282,753 RGD:8554872
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:8554872
G Stk40 serine/threonine kinase 40 JBrowse link 5 144,112,612 144,150,653 RGD:8554872
G Svbp small vasohibin binding protein JBrowse link 5 138,245,639 138,251,353 RGD:8554872
G Szt2 SZT2 subunit of KICSTOR complex JBrowse link 5 137,192,120 137,238,384 RGD:8554872
G Tctex1d4 Tctex1 domain containing 4 JBrowse link 5 135,995,128 135,997,807 RGD:8554872
G Tekt2 tektin 2 JBrowse link 5 144,341,955 144,345,500 RGD:8554872
G Tesk2 testis associated actin remodelling kinase 2 JBrowse link 5 135,574,172 135,659,842 RGD:8554872
G Tfap2e transcription factor AP-2 epsilon JBrowse link 5 144,740,950 144,761,787 RGD:8554872
G Thrap3 thyroid hormone receptor associated protein 3 JBrowse link 5 144,178,248 144,221,318 RGD:8554872
G Tie1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 JBrowse link 5 137,294,544 137,321,116 RGD:8554872
G Tmco2 transmembrane and coiled-coil domains 2 JBrowse link 5 140,019,871 140,024,458 RGD:8554872
G Tmem125 transmembrane protein 125 JBrowse link 5 137,371,825 137,373,229 RGD:8554872
G Tmem35b transmembrane protein 35B JBrowse link 5 145,188,323 145,191,953 RGD:8554872
G Tmem53 transmembrane protein 53 JBrowse link 5 136,112,417 136,127,976 RGD:8554872
G Tmem54 transmembrane protein 54 JBrowse link 5 147,288,700 147,295,191 RGD:8554872
G Tmem69 transmembrane protein 69 JBrowse link 5 135,394,013 135,397,591 RGD:8554872
G Toe1 target of EGR1, exonuclease JBrowse link 5 135,659,733 135,663,299 RGD:8554872
G Trappc3 trafficking protein particle complex 3 JBrowse link 5 144,281,720 144,295,306 RGD:8554872
G Trim62 tripartite motif-containing 62 JBrowse link 5 147,068,725 147,099,024 RGD:8554872
G Trit1 tRNA isopentenyltransferase 1 JBrowse link 5 140,711,943 140,756,893 RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
G Urod uroporphyrinogen decarboxylase JBrowse link 5 135,855,429 135,859,515 RGD:8554872
G Utp11 UTP11, small subunit processome component JBrowse link 5 142,666,288 142,681,173 RGD:8554872
G Yars1 tyrosyl-tRNA synthetase 1 JBrowse link 5 147,375,350 147,403,578 RGD:7240710
RGD:8554872
G Ybx1 Y box binding protein 1 JBrowse link 5 138,319,754 138,336,721 RGD:8554872
G Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing JBrowse link 5 142,845,265 142,850,110 RGD:8554872
G Zc3h12a zinc finger CCCH type containing 12A JBrowse link 5 143,111,342 143,120,131 RGD:8554872
G Zfp362 zinc finger protein 362 JBrowse link 5 146,951,195 146,985,450 RGD:8554872
G Zfp69 zinc finger protein 69 JBrowse link 5 139,856,457 139,871,896 RGD:8554872
G Zfp691 zinc finger protein 691 JBrowse link 5 138,217,841 138,222,534 RGD:8554872
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:8554872
G Zmym1 zinc finger MYM-type containing 1 JBrowse link 5 145,106,518 145,123,869 RGD:8554872
G Zmym4 zinc finger MYM-type containing 4 JBrowse link 5 144,878,212 144,996,431 RGD:8554872
G Zmym6 zinc finger MYM-type containing 6 JBrowse link 5 145,138,667 145,186,285 RGD:8554872
G Zmynd12 zinc finger, MYND-type containing 12 JBrowse link 5 138,470,165 138,505,928 RGD:8554872
G Zscan20 zinc finger and SCAN domain containing 20 JBrowse link 5 146,760,822 146,788,945 RGD:8554872
G Zswim5 zinc finger, SWIM-type containing 5 JBrowse link 5 135,735,825 135,854,525 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        neuromuscular disease 1520
          Charcot-Marie-Tooth disease 318
            Charcot-Marie-Tooth disease intermediate type 185
              Charcot-Marie-Tooth disease dominant intermediate C 175
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 457
                Charcot-Marie-Tooth disease 318
                  Charcot-Marie-Tooth disease intermediate type 185
                    Charcot-Marie-Tooth disease dominant intermediate C 175
paths to the root

NHLBI Logo

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