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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Charcot-Marie-Tooth disease intermediate type
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Accession:DOID:0050543 term browser browse the term
Definition:A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. (DO)
Synonyms:narrow_synonym: AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE;   Charcot-Marie-Tooth disease dominant intermediate;   Charcot-Marie-Tooth disease recessive intermediate
 related_synonym: Charcot-Marie-Tooth, intermediate


show annotations for term's descendants           Sort by:
Charcot-Marie-Tooth disease intermediate type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP276 cilia and flagella associated protein 276 ISO MouseDO NCBI chr 1:111,482,675...111,490,533
Ensembl chr 1:110,643,859...110,654,249 		JBrowse link
G CLCN1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease ClinVar PMID:7581380 PMID:7951215 PMID:8533761 PMID:8571958 PMID:17932099 More... NCBI chr 7:135,308,966...135,346,734
Ensembl chr 7:147,801,440...147,836,701 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:25741868 PMID:28492532 NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 PMID:32376792 NCBI chr11:63,991,285...64,028,430
Ensembl chr11:67,294,195...67,331,659 		JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease ClinVar NCBI chr 5:144,412,449...144,490,183
Ensembl chr 5:150,438,976...150,498,354 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:28492532 NCBI chr 1:32,068,202...32,108,664
Ensembl chr 1:33,232,905...33,294,558 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Disease, axonal, type 2GG OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32937143 NCBI chr10:98,849,000...98,986,443
Ensembl chr10:102,316,329...102,452,439 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,120,451...11,125,167
Ensembl chr19:11,832,575...11,835,203 		JBrowse link
G ANGPTL8 angiopoietin like 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,787,457...10,790,090
Ensembl chr19:11,498,069...11,500,400 		JBrowse link
G BEST2 bestrophin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,314,252...12,321,051
Ensembl chr19:13,060,133...13,066,033 		JBrowse link
G C20H19orf38 chromosome 20 C19orf38 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,390,158...10,423,117
Ensembl chr19:11,123,539...11,142,641 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729 		JBrowse link
G CALR calreticulin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416 		JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,424,993...10,476,702
Ensembl chr19:11,144,733...11,195,948 		JBrowse link
G CCDC159 coiled-coil domain containing 159 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,893,751...10,902,271
Ensembl chr19:11,604,405...11,612,516 		JBrowse link
G CNN1 calponin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,084,862...11,096,374
Ensembl chr19:11,796,523...11,807,680 		JBrowse link
G DAND5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,529,830...12,536,052 JBrowse link
G DHPS deoxyhypusine synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,237,882...12,243,903
Ensembl chr19:12,983,106...12,989,193 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,436,898...12,443,530
Ensembl chr19:13,180,073...13,185,650 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia OMIM
ClinVar		 PMID:2734399 PMID:9536098 PMID:15731758 PMID:16199547 PMID:16227997 More... NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220 		JBrowse link
G ECSIT ECSIT signaling integrator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,052,057...11,075,308
Ensembl chr19:11,763,701...11,786,743 		JBrowse link
G ELAVL3 ELAV like RNA binding protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,997,557...11,027,182
Ensembl chr19:11,711,767...11,737,764 		JBrowse link
G ELOF1 elongation factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,099,049...11,105,333 JBrowse link
G EPOR erythropoietin receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,484,607...12,496,160
Ensembl chr19:13,227,193...13,238,244 		JBrowse link
G FBXW9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,250,790...12,259,199
Ensembl chr19:12,996,061...13,003,564 		JBrowse link
G GADD45GIP1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,516,581...12,519,673
Ensembl chr19:13,259,047...13,262,044 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223 		JBrowse link
G GET3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,299,706...12,310,923
Ensembl chr19:13,045,570...13,055,908 		JBrowse link
G HOOK2 hook microtubule tethering protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,325,578...12,340,754
Ensembl chr19:13,070,289...13,082,612 		JBrowse link
G IER2 immediate early response 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,714,804...12,718,213
Ensembl chr19:13,452,239...13,452,910 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974 		JBrowse link
G KANK2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,713,582...10,746,371
Ensembl chr19:11,426,149...11,457,359 		JBrowse link
G KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,446,130...12,449,238
Ensembl chr19:13,188,652...13,191,425 		JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791 		JBrowse link
G LOC100986306 zinc finger protein 563 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,876,162...11,892,400
Ensembl chr19:12,638,203...12,653,371 		JBrowse link
G LOC100986980 zinc finger protein 763 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,525,905...11,529,331
Ensembl chr19:12,283,031...12,296,554 		JBrowse link
G LOC100988443 zinc finger protein 823 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,268,763...11,286,973
Ensembl chr19:11,978,214...11,995,986 		JBrowse link
G LOC100988783 zinc finger protein 441 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,314,513...11,332,116
Ensembl chr19:12,024,203...12,041,081 		JBrowse link
G LOC103785277 zinc finger protein 433 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,563,747...11,585,319
Ensembl chr19:12,332,398...12,353,203 		JBrowse link
G LYL1 LYL1 basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,660,548...12,664,513
Ensembl chr19:13,407,596...13,409,309 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,208,319...12,228,934
Ensembl chr19:12,954,103...12,974,056 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,395,531...12,436,646
Ensembl chr19:13,138,382...13,179,569 		JBrowse link
G NACC1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,679,837...12,704,470
Ensembl chr19:13,412,462...13,439,679 		JBrowse link
G NFIX nuclear factor I X ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,557,020...12,660,316
Ensembl chr19:13,327,690...13,402,406 		JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,967,913...10,982,032
Ensembl chr19:11,678,306...11,693,332 		JBrowse link
G PRDX2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,359,084...12,363,552
Ensembl chr19:13,103,422...13,107,369 		JBrowse link
G PRKCSH PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,981,398...10,997,062
Ensembl chr19:11,693,620...11,707,728 		JBrowse link
G RAB3D RAB3D, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,869,402...10,887,005
Ensembl chr19:11,579,669...11,597,158 		JBrowse link
G RAD23A RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,508,232...12,516,068
Ensembl chr19:13,250,718...13,258,482 		JBrowse link
G RGL3 ral guanine nucleotide dissociation stimulator like 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,932,016...10,966,701
Ensembl chr19:11,652,700...11,685,293 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,363,721...12,375,316
Ensembl chr19:13,112,242...13,119,514 		JBrowse link
G RTBDN retbindin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,387,165...12,397,157
Ensembl chr19:13,129,659...13,139,842 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952 		JBrowse link
G SPC24 SPC24 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,695,488...10,705,849 JBrowse link
G STX10 syntaxin 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,707,389...12,713,681
Ensembl chr19:13,445,784...13,449,422 		JBrowse link
G SWSAP1 SWIM-type zinc finger 7 associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,920,774...10,923,769
Ensembl chr19:11,632,682...11,634,202 		JBrowse link
G SYCE2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,459,646...12,481,833
Ensembl chr19:13,203,595...13,224,052 		JBrowse link
G TIMM29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,482,351...10,483,890 JBrowse link
G TMED1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,386,041...10,389,905
Ensembl chr19:11,107,511...11,111,744 		JBrowse link
G TMEM205 transmembrane protein 205 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,890,020...10,893,608
Ensembl chr19:11,601,256...11,604,203 		JBrowse link
G TNPO2 transportin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,261,026...12,286,571
Ensembl chr19:13,006,110...13,032,317 		JBrowse link
G TRIR telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,293,236...12,297,338
Ensembl chr19:13,038,837...13,046,866 		JBrowse link
G TRMT1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,666,426...12,679,454 JBrowse link
G TSPAN16 tetraspanin 16 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,844,955...10,864,526
Ensembl chr19:11,555,377...11,584,606 		JBrowse link
G WDR83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,231,876...12,237,997
Ensembl chr19:12,976,952...12,983,221 		JBrowse link
G WDR83OS WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,230,204...12,231,881
Ensembl chr19:12,975,314...12,976,896 		JBrowse link
G YIPF2 Yip1 domain family member 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,475,806...10,482,352
Ensembl chr19:11,195,562...11,203,248 		JBrowse link
G ZNF136 zinc finger protein 136 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,752,504...11,796,167
Ensembl chr19:12,490,274...12,516,458
Ensembl chr19:12,490,274...12,516,458 		JBrowse link
G ZNF20 zinc finger protein 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,687,783...11,702,790
Ensembl chr19:12,456,470...12,467,459 		JBrowse link
G ZNF443 zinc finger protein 443 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,991,563...12,021,852 JBrowse link
G ZNF490 zinc finger protein 490 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,138,375...12,173,313
Ensembl chr19:12,889,625...12,919,759 		JBrowse link
G ZNF491 zinc finger protein 491 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,346,661...11,356,232 JBrowse link
G ZNF564 zinc finger protein 564 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,088,249...12,141,600
Ensembl chr19:12,836,581...12,861,815 		JBrowse link
G ZNF625 zinc finger protein 625 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,695,318...11,715,239
Ensembl chr19:12,466,592...12,483,466 		JBrowse link
G ZNF627 zinc finger protein 627 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,121,041...11,165,305
Ensembl chr19:11,853,313...11,875,349 		JBrowse link
G ZNF653 zinc finger protein 653 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,029,561...11,051,967
Ensembl chr19:11,740,585...11,763,707 		JBrowse link
G ZNF709 zinc finger protein 709 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,026,842...12,076,648 JBrowse link
G ZNF791 zinc finger protein 791 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,173,427...12,195,067 JBrowse link
G ZNF878 zinc finger protein 878 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,592,589...11,602,765
Ensembl chr19:12,361,219...12,369,278 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A3GALT2 alpha 1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:32,592,614...32,598,986 JBrowse link
G ADPRS ADP-ribosylserine hydrolase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,354,721...35,360,029
Ensembl chr 1:36,529,051...36,534,235 		JBrowse link
G AGO1 argonaute RISC component 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,148,984...35,196,252
Ensembl chr 1:36,324,733...36,360,832 		JBrowse link
G AGO3 argonaute RISC catalytic component 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,196,371...35,322,220
Ensembl chr 1:36,372,221...36,497,190 		JBrowse link
G AIRIM AFG2 interacting ribosome maturation factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:36,954,580...36,965,289
Ensembl chr 1:38,301,427...38,314,400 		JBrowse link
G AK2 adenylate kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:32,295,668...32,323,681
Ensembl chr 1:33,480,947...33,508,621 		JBrowse link
G AKIRIN1 akirin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:38,269,096...38,283,920
Ensembl chr 1:39,616,036...39,629,300 		JBrowse link
G AKR1A1 aldo-keto reductase family 1 member A1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,853,867...44,871,764
Ensembl chr 1:46,211,859...46,230,072 		JBrowse link
G ARMH1 armadillo like helical domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,977,208...44,028,404
Ensembl chr 1:45,343,447...45,393,811 		JBrowse link
G ARTN artemin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,233,097...43,239,044 JBrowse link
G ATP6V0B ATPase H+ transporting V0 subunit b ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,276,696...43,280,099
Ensembl chr 1:44,647,822...44,651,482 		JBrowse link
G AZIN2 antizyme inhibitor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:32,365,430...32,404,880
Ensembl chr 1:33,550,140...33,589,402 		JBrowse link
G B4GALT2 beta-1,4-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,281,011...43,292,992
Ensembl chr 1:44,652,906...44,664,401 		JBrowse link
G BEST4 bestrophin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,087,062...44,104,995
Ensembl chr 1:45,452,078...45,456,691 		JBrowse link
G BMP8B bone morphogenetic protein 8b ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,047,766...39,079,496 JBrowse link
G BTBD19 BTB domain containing 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,110,664...44,118,397
Ensembl chr 1:45,478,464...45,484,207 		JBrowse link
G C1H1orf122 chromosome 1 C1orf122 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:37,082,486...37,084,170 JBrowse link
G C1H1orf210 chromosome 1 C1orf210 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,583,297...42,587,987
Ensembl chr 1:43,960,676...43,964,384 		JBrowse link
G C1H1orf216 chromosome 1 C1orf216 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,984,297...34,989,601
Ensembl chr 1:36,163,376...36,164,065 		JBrowse link
G C1H1orf50 chromosome 1 C1orf50 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,065,931...42,080,656
Ensembl chr 1:43,443,611...43,452,684 		JBrowse link
G C1H1orf94 chromosome 1 C1orf94 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:33,443,953...33,496,830
Ensembl chr 1:34,637,104...34,678,740 		JBrowse link
G CAP1 cyclase associated actin cytoskeleton regulatory protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,325,715...39,358,365
Ensembl chr 1:40,651,262...40,683,777 		JBrowse link
G CCDC17 coiled-coil domain containing 17 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,921,301...44,926,090
Ensembl chr 1:46,279,879...46,283,930 		JBrowse link
G CCDC24 coiled-coil domain containing 24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,293,426...43,298,371
Ensembl chr 1:44,664,832...44,669,409 		JBrowse link
G CCDC30 coiled-coil domain containing 30 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:41,782,720...41,954,106
Ensembl chr 1:43,200,640...43,332,018 		JBrowse link
G CDC20 cell division cycle 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,660,338...42,664,618
Ensembl chr 1:44,039,971...44,044,497 		JBrowse link
G CDCA8 cell division cycle associated 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:36,965,470...36,982,761
Ensembl chr 1:38,314,597...38,331,625 		JBrowse link
G CFAP144 cilia and flagella associated protein 144 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,446,359...42,455,170
Ensembl chr 1:43,820,716...43,832,236 		JBrowse link
G CFAP57 cilia and flagella associated protein 57 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,470,987...42,556,101
Ensembl chr 1:43,848,369...43,933,279 		JBrowse link
G CITED4 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:40,154,556...40,156,846 JBrowse link
G CLDN19 claudin 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,032,999...42,040,006
Ensembl chr 1:43,408,876...43,417,448 		JBrowse link
G CLSPN claspin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,991,082...35,040,515
Ensembl chr 1:36,182,726...36,218,544 		JBrowse link
G COL8A2 collagen type VIII alpha 2 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,361,336...35,391,173
Ensembl chr 1:36,537,869...36,540,541 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,596,050...39,613,316
Ensembl chr 1:40,918,814...40,935,953 		JBrowse link
G CSF3R colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,730,678...35,747,939
Ensembl chr 1:36,897,153...36,910,612 		JBrowse link
G CSMD2 CUB and Sushi multiple domains 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:32,800,267...33,443,599
Ensembl chr 1:33,989,876...34,625,977 		JBrowse link
G CTPS1 CTP synthase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:40,275,581...40,308,421
Ensembl chr 1:41,592,509...41,624,455 		JBrowse link
G DLGAP3 DLG associated protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,131,692...34,195,856
Ensembl chr 1:35,314,112...35,352,982 		JBrowse link
G DMAP1 DNA methyltransferase 1 associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,516,839...43,524,206
Ensembl chr 1:44,886,307...44,893,598 		JBrowse link
G DNALI1 dynein axonemal light intermediate chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:36,829,963...36,839,898
Ensembl chr 1:38,179,381...38,189,378 		JBrowse link
G DPH2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,271,349...43,275,162
Ensembl chr 1:44,643,142...44,646,545 		JBrowse link
G DYNLT4 dynein light chain Tctex-type 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,110,060...44,111,524
Ensembl chr 1:45,476,034...45,476,705 		JBrowse link
G EBNA1BP2 EBNA1 binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,462,907...42,470,949
Ensembl chr 1:43,839,917...43,848,352 		JBrowse link
G EDN2 endothelin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:40,777,582...40,783,410
Ensembl chr 1:42,092,811...42,098,721 		JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,154,600...44,290,407
Ensembl chr 1:45,525,137...45,650,259 		JBrowse link
G ELOVL1 ELOVL fatty acid elongase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,664,818...42,686,475
Ensembl chr 1:44,044,693...44,048,769 		JBrowse link
G EPHA10 EPH receptor A10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:36,987,683...37,038,611
Ensembl chr 1:38,337,871...38,386,946 		JBrowse link
G ERI3 ERI1 exoribonuclease family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,524,620...43,658,121
Ensembl chr 1:44,894,011...45,027,194 		JBrowse link
G ERMAP erythroblast membrane associated protein (Scianna blood group) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,115,812...42,143,314
Ensembl chr 1:43,505,756...43,520,622 		JBrowse link
G EVA1B eva-1 homolog B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,589,717...35,591,312
Ensembl chr 1:36,753,593...36,754,896 		JBrowse link
G EXO5 exonuclease 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,798,164...39,805,509 JBrowse link
G FHL3 four and a half LIM domains 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:37,270,357...37,279,144
Ensembl chr 1:38,618,231...38,626,543 		JBrowse link
G FNDC5 fibronectin type III domain containing 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:32,152,828...32,161,447
Ensembl chr 1:33,338,886...33,347,284 		JBrowse link
G FOXJ3 forkhead box J3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:41,475,482...41,637,478
Ensembl chr 1:42,855,058...42,992,584 		JBrowse link
G FOXO6 forkhead box O6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:40,659,371...40,681,778 JBrowse link
G GJA4 gap junction protein alpha 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,059,901...34,063,181 JBrowse link
G GJA9 gap junction protein alpha 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:38,146,515...38,159,985
Ensembl chr 1:39,492,609...39,494,156 		JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,048,136...34,053,298 JBrowse link
G GJB4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,027,433...34,029,415
Ensembl chr 1:35,209,877...35,210,677 		JBrowse link
G GJB5 gap junction protein beta 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,022,109...34,025,606
Ensembl chr 1:35,205,953...35,206,774 		JBrowse link
G GNL2 G protein nucleolar 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:36,839,858...36,868,986
Ensembl chr 1:38,189,273...38,218,391 		JBrowse link
G GPBP1L1 GC-rich promoter binding protein 1 like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,928,396...44,987,387
Ensembl chr 1:46,286,565...46,343,891 		JBrowse link
G GRIK3 glutamate ionotropic receptor kainate type subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:36,060,594...36,312,781
Ensembl chr 1:37,415,254...37,651,705 		JBrowse link
G GUCA2A guanylate cyclase activator 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:41,462,047...41,464,122
Ensembl chr 1:42,841,930...42,844,005 		JBrowse link
G GUCA2B guanylate cyclase activator 2B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:41,452,722...41,455,192
Ensembl chr 1:42,832,196...42,835,425 		JBrowse link
G HECTD3 HECT domain E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,306,327...44,315,131
Ensembl chr 1:45,670,302...45,678,916 		JBrowse link
G HEYL hes related family bHLH transcription factor with YRPW motif like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:38,913,549...38,929,798
Ensembl chr 1:40,240,118...40,256,933 		JBrowse link
G HIVEP3 HIVEP zinc finger 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:40,805,355...41,335,290
Ensembl chr 1:42,120,741...42,203,313 		JBrowse link
G HMGB4 high mobility group box 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:33,146,630...33,150,947 JBrowse link
G HPCA hippocalcin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:32,176,465...32,185,133
Ensembl chr 1:33,363,673...33,371,524 		JBrowse link
G HPCAL4 hippocalcin like 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:38,969,006...38,982,080
Ensembl chr 1:40,295,463...40,308,469 		JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,629,560...44,631,394
Ensembl chr 1:45,988,494...45,989,609 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984 		JBrowse link
G HYI hydroxypyruvate isomerase (putative) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,752,555...42,755,643 JBrowse link
G INPP5B inositol polyphosphate-5-phosphatase B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:37,135,442...37,220,721
Ensembl chr 1:38,485,163...38,567,704 		JBrowse link
G IPO13 importin 13 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,248,677...43,269,815
Ensembl chr 1:44,619,894...44,641,197 		JBrowse link
G IPP intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,993,669...45,052,411
Ensembl chr 1:46,351,496...46,408,224 		JBrowse link
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:40,076,552...40,133,913
Ensembl chr 1:41,396,111...41,452,780 		JBrowse link
G KDM4A lysine demethylase 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,949,977...43,005,684
Ensembl chr 1:44,325,624...44,380,163 		JBrowse link
G KIAA0319L KIAA0319 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,701,571...34,825,628
Ensembl chr 1:35,879,029...36,002,516 		JBrowse link
G KIF2C kinesin family member 2C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,042,565...44,070,922
Ensembl chr 1:45,408,734...45,436,844 		JBrowse link
G KLF17 KLF transcription factor 17 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,419,910...43,435,499
Ensembl chr 1:44,791,190...44,802,965 		JBrowse link
G LOC100977537 argonaute RISC component 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,072,045...35,122,418
Ensembl chr 1:36,249,038...36,299,259 		JBrowse link
G LOC100984543 bone morphogenetic protein 8A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:38,776,557...38,815,210 JBrowse link
G LSM10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,660,923...35,665,440
Ensembl chr 1:36,829,540...36,829,911 		JBrowse link
G MACF1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:38,369,021...38,771,911
Ensembl chr 1:39,820,394...40,096,558 		JBrowse link
G MANEAL mannosidase endo-alpha like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:37,068,591...37,075,844 JBrowse link
G MAP7D1 MAP7 domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,421,781...35,446,939
Ensembl chr 1:36,596,960...36,620,540 		JBrowse link
G MAST2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:45,105,098...45,341,903
Ensembl chr 1:46,461,456...46,696,053 		JBrowse link
G MEAF6 MYST/Esa1 associated factor 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:36,761,402...36,783,746
Ensembl chr 1:38,111,937...38,133,360 		JBrowse link
G MED8 mediator complex subunit 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,685,324...42,691,243
Ensembl chr 1:44,063,479...44,068,835 		JBrowse link
G MFSD2A MFSD2 lysolipid transporter A, lysophospholipid ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,244,438...39,259,156
Ensembl chr 1:40,569,706...40,584,438 		JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,802,724...44,811,893
Ensembl chr 1:46,160,364...46,171,662 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492 		JBrowse link
G MRPS15 mitochondrial ribosomal protein S15 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,720,722...35,729,397
Ensembl chr 1:36,886,843...36,895,556 		JBrowse link
G MTF1 metal regulatory transcription factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:37,088,744...37,134,318
Ensembl chr 1:38,438,294...38,482,142 		JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,632,102...44,643,292
Ensembl chr 1:45,990,588...46,002,645 		JBrowse link
G MYCBP MYC binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:38,135,375...38,145,640 JBrowse link
G MYCL MYCL proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,184,883...39,191,413
Ensembl chr 1:40,510,820...40,517,821 		JBrowse link
G NASP nuclear autoantigenic sperm protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,885,433...44,920,159
Ensembl chr 1:46,242,841...46,278,737 		JBrowse link
G NCDN neurochondrin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,825,694...34,834,729
Ensembl chr 1:36,002,890...36,011,889 		JBrowse link
G NDUFS5 NADH:ubiquinone oxidoreductase subunit S5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:38,304,225...38,312,608
Ensembl chr 1:39,651,659...39,659,266 		JBrowse link
G NFYC nuclear transcription factor Y subunit gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,984,716...40,064,464
Ensembl chr 1:41,304,194...41,383,615 		JBrowse link
G NT5C1A 5'-nucleotidase, cytosolic IA ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:38,943,479...38,962,804
Ensembl chr 1:40,275,870...40,289,221 		JBrowse link
G OSCP1 organic solute carrier partner 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,681,787...35,716,220
Ensembl chr 1:36,849,204...36,881,539 		JBrowse link
G OXCT2 3-oxoacid CoA-transferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,060,137...39,062,481 JBrowse link
G P3H1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,046,128...42,065,718
Ensembl chr 1:43,423,900...43,443,336 		JBrowse link
G PABPC4 poly(A) binding protein cytoplasmic 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:38,846,296...38,862,371
Ensembl chr 1:40,172,657...40,188,308 		JBrowse link
G PHC2 polyhomeotic homolog 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:32,609,560...32,717,143
Ensembl chr 1:33,794,950...33,846,913 		JBrowse link
G PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:45,345,946...45,481,031
Ensembl chr 1:46,700,153...46,792,920 		JBrowse link
G PLK3 polo like kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,104,564...44,110,162
Ensembl chr 1:45,470,016...45,476,021 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137 		JBrowse link
G POU3F1 POU class 3 homeobox 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:37,317,800...37,320,004 JBrowse link
G PPCS phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:41,756,403...41,773,430
Ensembl chr 1:43,136,720...43,140,620 		JBrowse link
G PPIE peptidylprolyl isomerase E ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,029,412...39,054,500
Ensembl chr 1:40,355,598...40,380,472 		JBrowse link
G PPIH peptidylprolyl isomerase H ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:41,958,260...41,981,598
Ensembl chr 1:43,336,039...43,353,898 		JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,358,424...39,383,087
Ensembl chr 1:40,683,841...40,708,609 		JBrowse link
G PRDX1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,813,508...44,824,430
Ensembl chr 1:46,171,453...46,182,018 		JBrowse link
G PSMB2 proteasome 20S subunit beta 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,869,524...34,911,852
Ensembl chr 1:36,046,963...36,090,294 		JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,125,693...44,147,462
Ensembl chr 1:45,490,789...45,513,055 		JBrowse link
G PTPRF protein tyrosine phosphatase receptor type F ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,878,344...42,923,539
Ensembl chr 1:44,220,991...44,297,647 		JBrowse link
G RHBDL2 rhomboid like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:38,157,761...38,214,267
Ensembl chr 1:39,503,171...39,543,378 		JBrowse link
G RIMKLA ribosomal modification protein rimK like family member A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:41,680,447...41,722,087
Ensembl chr 1:43,061,769...43,095,443 		JBrowse link
G RIMS3 regulating synaptic membrane exocytosis 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,886,961...39,958,519
Ensembl chr 1:41,239,798...41,278,282 		JBrowse link
G RLF RLF zinc finger ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,448,869...39,528,061
Ensembl chr 1:40,773,638...40,852,218 		JBrowse link
G RNF19B ring finger protein 19B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:32,228,220...32,256,745
Ensembl chr 1:33,414,611...33,441,986 		JBrowse link
G RNF220 ring finger protein 220 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,707,764...43,954,197
Ensembl chr 1:45,083,499...45,319,721 		JBrowse link
G RPS8 ribosomal protein S8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,078,633...44,081,891
Ensembl chr 1:45,444,879...45,448,166 		JBrowse link
G RRAGC Ras related GTP binding C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:38,110,578...38,132,179
Ensembl chr 1:39,456,768...39,478,244 		JBrowse link
G RSPO1 R-spondin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:36,885,176...36,907,821
Ensembl chr 1:38,231,764...38,256,903 		JBrowse link
G S100PBP S100P binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:28492532 NCBI chr 1:32,108,070...32,149,433
Ensembl chr 1:33,295,373...33,335,495 		JBrowse link
G SCMH1 Scm polycomb group protein homolog 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:40,323,101...40,540,236
Ensembl chr 1:41,639,127...41,776,261 		JBrowse link
G SF3A3 splicing factor 3a subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:37,230,553...37,264,167
Ensembl chr 1:38,575,122...38,612,009 		JBrowse link
G SFPQ splicing factor proline and glutamine rich ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,444,105...34,461,012
Ensembl chr 1:35,632,917...35,641,551 		JBrowse link
G SH3D21 SH3 domain containing 21 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,573,553...35,589,034
Ensembl chr 1:36,743,753...36,752,693 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,298,326...43,333,345
Ensembl chr 1:44,664,839...44,704,882 		JBrowse link
G SLFNL1 schlafen like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:40,311,448...40,321,628
Ensembl chr 1:41,627,482...41,637,570 		JBrowse link
G SMAP2 small ArfGAP2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,660,134...39,709,902
Ensembl chr 1:40,983,822...41,031,845 		JBrowse link
G SMIM12 small integral membrane protein 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,121,669...34,126,465
Ensembl chr 1:35,303,890...35,304,168 		JBrowse link
G SNIP1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:36,807,488...36,827,347
Ensembl chr 1:38,155,375...38,176,803 		JBrowse link
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,006,963...43,232,968
Ensembl chr 1:44,409,904...44,603,658 		JBrowse link
G STK40 serine/threonine kinase 40 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,607,231...35,653,443
Ensembl chr 1:36,775,581...36,821,654 		JBrowse link
G SVBP small vasohibin binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,105,405...42,115,721
Ensembl chr 1:43,482,870...43,492,577 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,691,292...42,754,046
Ensembl chr 1:44,068,998...44,129,456 		JBrowse link
G TEKT2 tektin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,350,168...35,354,378
Ensembl chr 1:36,524,686...36,528,586 		JBrowse link
G TESK2 testis associated actin remodelling kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,646,716...44,794,419
Ensembl chr 1:46,005,185...46,118,811 		JBrowse link
G TFAP2E transcription factor AP-2 epsilon ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,838,962...34,863,268
Ensembl chr 1:36,018,681...36,040,059 		JBrowse link
G THRAP3 thyroid hormone receptor associated protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,492,918...35,572,896
Ensembl chr 1:36,719,770...36,741,355 		JBrowse link
G TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,602,333...42,624,471
Ensembl chr 1:43,979,838...44,002,167 		JBrowse link
G TMCO2 transmembrane and coiled-coil domains 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,534,907...39,538,819
Ensembl chr 1:40,858,869...40,862,642 		JBrowse link
G TMEM125 transmembrane protein 125 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,571,400...42,575,429
Ensembl chr 1:43,951,331...43,951,990 		JBrowse link
G TMEM35B transmembrane protein 35B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,246,470...34,250,771
Ensembl chr 1:35,427,479...35,431,307 		JBrowse link
G TMEM53 transmembrane protein 53 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,955,734...43,977,107
Ensembl chr 1:45,305,359...45,343,109 		JBrowse link
G TMEM54 transmembrane protein 54 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:32,185,082...32,191,891
Ensembl chr 1:33,371,471...33,378,391 		JBrowse link
G TMEM69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,987,380...44,993,900
Ensembl chr 1:46,345,285...46,351,530 		JBrowse link
G TOE1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,642,812...44,646,808
Ensembl chr 1:46,000,713...46,005,279 		JBrowse link
G TRAPPC3 trafficking protein particle complex subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,402,394...35,415,312
Ensembl chr 1:36,577,114...36,590,226 		JBrowse link
G TRIM62 tripartite motif containing 62 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:32,429,824...32,467,185
Ensembl chr 1:33,614,555...33,650,859 		JBrowse link
G TRIT1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,130,198...39,173,238
Ensembl chr 1:40,456,432...40,499,187 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828 		JBrowse link
G UROD uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,315,912...44,319,356
Ensembl chr 1:45,679,744...45,683,185 		JBrowse link
G UTP11 UTP11 small subunit processome component ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:37,286,274...37,297,368
Ensembl chr 1:38,633,935...38,645,068 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C OMIM
ClinVar		 PMID:3034524 PMID:9536098 PMID:14606043 PMID:16199547 PMID:16429158 More... NCBI chr 1:32,068,202...32,108,664
Ensembl chr 1:33,232,905...33,294,558 		JBrowse link
G YBX1 Y-box binding protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:41,982,365...42,002,430
Ensembl chr 1:43,360,052...43,380,313 		JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:37,077,653...37,082,929 JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:36,743,341...36,753,261
Ensembl chr 1:38,093,917...38,103,556 		JBrowse link
G ZFP69 ZFP69 zinc finger protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,767,402...39,786,090
Ensembl chr 1:41,089,353...41,108,690 		JBrowse link
G ZFP69B ZFP69 zinc finger protein B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,736,604...39,750,288
Ensembl chr 1:41,059,175...41,072,659 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,545,264...39,589,721
Ensembl chr 1:40,869,076...40,912,747 		JBrowse link
G ZMYM1 zinc finger MYM-type containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,345,439...34,383,605
Ensembl chr 1:35,536,527...35,563,423 		JBrowse link
G ZMYM4 zinc finger MYM-type containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,535,627...34,690,333
Ensembl chr 1:35,771,826...35,868,117 		JBrowse link
G ZMYM6 zinc finger MYM-type containing 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,251,912...34,296,627
Ensembl chr 1:35,432,919...35,478,126 		JBrowse link
G ZMYND12 zinc finger MYND-type containing 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:41,725,736...41,756,324
Ensembl chr 1:43,110,890...43,136,487 		JBrowse link
G ZNF362 zinc finger protein 362 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:32,412,726...32,586,712
Ensembl chr 1:33,741,628...33,770,353 		JBrowse link
G ZNF684 zinc finger protein 684 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,824,037...39,841,025
Ensembl chr 1:41,145,020...41,162,094 		JBrowse link
G ZNF691 zinc finger protein 691 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,144,932...42,150,839
Ensembl chr 1:43,526,359...43,527,485 		JBrowse link
G ZSCAN20 zinc finger and SCAN domain containing 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:32,758,663...32,787,745
Ensembl chr 1:33,943,212...33,967,134 		JBrowse link
G ZSWIM5 zinc finger SWIM-type containing 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,320,200...44,507,023
Ensembl chr 1:45,686,060...45,867,309 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate d OMIM
ClinVar		 PMID:7505151 PMID:7527371 PMID:7581451 PMID:8664899 PMID:8816708 More... NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate D ClinVar PMID:16987171 PMID:25741868 PMID:28492532 PMID:34008892 NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INF2 inverted formin 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate E OMIM
ClinVar		 PMID:6054293 PMID:20023659 PMID:20803156 PMID:21258034 PMID:21866090 More... NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNB4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate F OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23434117 PMID:25741868 More... NCBI chr 3:176,428,475...176,483,905
Ensembl chr 3:184,601,229...184,630,913 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate G OMIM
ClinVar		 PMID:12477167 PMID:12566280 PMID:14733962 PMID:17052987 PMID:19158810 More... NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694 		JBrowse link
Charcot-Marie-Tooth disease recessive intermediate A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate A ClinVar PMID:25326637 PMID:28492532 NCBI chr17:69,890,817...69,928,342
Ensembl chr17:75,445,923...75,479,571 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate A OMIM
ClinVar		 PMID:11743580 PMID:12499475 PMID:12566285 PMID:14561495 PMID:16172208 More... NCBI chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346 		JBrowse link
Charcot-Marie-Tooth disease recessive intermediate B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B OMIM
ClinVar		 PMID:20920668 PMID:23596069 PMID:24033266 PMID:25356970 PMID:25741868 More... NCBI chr16:56,196,867...56,216,909
Ensembl chr16:75,545,002...75,565,043 		JBrowse link
Charcot-Marie-Tooth disease recessive intermediate C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate C OMIM
ClinVar		 PMID:16199547 PMID:17564964 PMID:23777631 PMID:23844677 PMID:25741868 More... NCBI chr 1:5,228,681...5,259,554
Ensembl chr 1:6,481,782...6,535,643 		JBrowse link
Charcot-Marie-Tooth disease recessive intermediate D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103783978 cytochrome c oxidase subunit 6A1, mitochondrial ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate D OMIM
ClinVar		 PMID:25152455 PMID:25741868 PMID:26302975 PMID:28492532 NCBI chr12:118,019,493...118,022,152
Ensembl chr12:121,393,917...121,396,561 		JBrowse link
Charcot-Marie-Tooth Disease, Dominant Intermediate 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate 1 ClinVar PMID:2734399 PMID:16227997 PMID:17008356 PMID:17636067 PMID:17825552 More... NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478 		JBrowse link
Charcot-Marie-Tooth Disease, Dominant Intermediate 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate 3 ClinVar PMID:7527371 PMID:8664899 PMID:8816708 PMID:9187667 PMID:9888385 More... NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7805
        neuromuscular disease 3026
          Charcot-Marie-Tooth disease 667
            Charcot-Marie-Tooth disease intermediate type 268
              Charcot-Marie-Tooth Disease, Dominant Intermediate 1 1
              Charcot-Marie-Tooth Disease, Dominant Intermediate 2 0
              Charcot-Marie-Tooth Disease, Dominant Intermediate 3 1
              Charcot-Marie-Tooth disease dominant intermediate A 1
              Charcot-Marie-Tooth disease dominant intermediate B + 74
              Charcot-Marie-Tooth disease dominant intermediate C 179
              Charcot-Marie-Tooth disease dominant intermediate D 2
              Charcot-Marie-Tooth disease dominant intermediate E 1
              Charcot-Marie-Tooth disease dominant intermediate F 1
              Charcot-Marie-Tooth disease dominant intermediate G 1
              Charcot-Marie-Tooth disease recessive intermediate A 2
              Charcot-Marie-Tooth disease recessive intermediate B 1
              Charcot-Marie-Tooth disease recessive intermediate C 1
              Charcot-Marie-Tooth disease recessive intermediate D 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          neurodegenerative disease 4736
            Nervous System Heredodegenerative Disorders 3270
              motor peripheral neuropathy 1213
                Charcot-Marie-Tooth disease 667
                  Charcot-Marie-Tooth disease intermediate type 268
                    Charcot-Marie-Tooth Disease, Dominant Intermediate 1 1
                    Charcot-Marie-Tooth Disease, Dominant Intermediate 2 0
                    Charcot-Marie-Tooth Disease, Dominant Intermediate 3 1
                    Charcot-Marie-Tooth disease dominant intermediate A 1
                    Charcot-Marie-Tooth disease dominant intermediate B + 74
                    Charcot-Marie-Tooth disease dominant intermediate C 179
                    Charcot-Marie-Tooth disease dominant intermediate D 2
                    Charcot-Marie-Tooth disease dominant intermediate E 1
                    Charcot-Marie-Tooth disease dominant intermediate F 1
                    Charcot-Marie-Tooth disease dominant intermediate G 1
                    Charcot-Marie-Tooth disease recessive intermediate A 2
                    Charcot-Marie-Tooth disease recessive intermediate B 1
                    Charcot-Marie-Tooth disease recessive intermediate C 1
                    Charcot-Marie-Tooth disease recessive intermediate D 1
paths to the root