Charcot-Marie-Tooth disease dominant intermediate C - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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 dominant intermediate C	go back to main search page
Accession:	DOID:0110199	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
	xref:	ORDO:100045

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Genes (176)

Charcot-Marie-Tooth disease dominant intermediate C

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha 1,3-galactosyltransferase 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr 2:68,117,648...68,138,610
Ensembl chr 2:68,118,413...68,138,095

G

ADP-ribosylserine hydrolase

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,116,516...6,122,330
Ensembl chr15:6,116,500...6,123,798

G

argonaute RISC component 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,258,359...6,294,911
Ensembl chr15:6,263,882...6,295,338

G

argonaute RISC catalytic component 3

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,133,303...6,253,032
Ensembl chr15:6,145,895...6,253,085

G

argonaute RISC component 4

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,325,899...6,351,748
Ensembl chr15:6,329,413...6,356,676

G

AFG2 interacting ribosome maturation factor

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,810,059...4,816,223
Ensembl chr15:4,810,068...4,832,822

G

adenylate kinase 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr 2:68,342,769...68,371,769
Ensembl chr 2:68,350,057...68,371,090

G

akirin 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:3,759,559...3,771,651
Ensembl chr15:3,763,374...3,771,551

G

aldo-keto reductase family 1 member A1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:14,792,398...14,808,805
Ensembl chr15:14,742,012...14,808,592

G

armadillo like helical domain containing 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,590,451...15,640,089
Ensembl chr15:15,590,447...15,640,321

G

artemin

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

G

ATPase H+ transporting V0 subunit b

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,282,490...16,285,776
Ensembl chr15:16,282,684...16,285,731

G

antizyme inhibitor 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr 2:68,288,554...68,323,710
Ensembl chr 2:68,286,195...68,323,710

G

beta-1,4-galactosyltransferase 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,272,051...16,281,028
Ensembl chr15:16,255,986...16,281,165

G

bestrophin 4

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,535,179...15,539,047
Ensembl chr15:15,535,186...15,538,526

G

BTB domain containing 19

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,511,430...15,516,611
Ensembl chr15:15,512,018...15,516,013

G

chromosome 15 C1orf122 homolog

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,723,244...4,724,512
Ensembl chr15:4,723,616...4,724,386

G

chromosome 15 C1orf210 homolog

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,880,339...16,884,584
Ensembl chr15:16,882,241...16,884,387

G

chromosome 15 C1orf216 homolog

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,443,334...6,448,284
Ensembl chr15:6,445,942...6,446,628

G

chromosome 15 C1orf50 homolog

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:595,391...603,176
Ensembl chr15:595,309...603,237

G

chromosome 15 C1orf94 homolog

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:7,654,546...7,691,562

G

cyclase associated actin cytoskeleton regulatory protein 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,886,661...2,913,975

G

coiled-coil domain containing 17

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:14,735,383...14,740,146
Ensembl chr15:14,736,440...14,739,977

G

coiled-coil domain containing 24

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,267,994...16,269,499

G

coiled-coil domain containing 30

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:691,771...759,443
Ensembl chr15:691,780...810,110

G

cell division cycle 20

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,803,204...16,806,935
Ensembl chr15:16,803,204...16,806,919

G

cell division cycle associated 8

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,796,980...4,809,914
Ensembl chr15:4,798,197...4,809,658

G

cilia and flagella associated protein 144

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,990,826...17,000,220

G

cilia and flagella associated protein 57

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,903,470...16,977,825
Ensembl chr15:16,903,470...16,977,408

G

Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

G

claudin 19

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:626,721...631,643
Ensembl chr15:627,035...631,789

G

claspin

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,400,084...6,430,295
Ensembl chr15:6,400,062...6,430,279

G

collagen type VIII alpha 2 chain

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,095,872...6,115,538
Ensembl chr15:6,095,728...6,115,538

G

collagen type IX alpha 2 chain

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,615,428...2,661,552
Ensembl chr15:2,646,982...2,661,552

G

colony stimulating factor 3 receptor

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:5,818,985...5,832,455
Ensembl chr15:5,822,025...5,831,882

G

CUB and Sushi multiple domains 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:7,753,901...8,191,506

G

CTP synthase 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,067,767...2,093,014
Ensembl chr15:2,067,763...2,093,014

G

DLG associated protein 3

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:7,058,367...7,123,604
Ensembl chr15:7,058,749...7,115,034

G

DNA methyltransferase 1 associated protein 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,077,164...16,085,666
Ensembl chr15:16,077,206...16,085,687

G

dynein axonemal light intermediate chain 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,916,747...4,922,893
Ensembl chr15:4,916,756...4,922,813

G

diphthamide biosynthesis 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,287,300...16,291,079
Ensembl chr15:16,288,370...16,291,032

G

dynein light chain Tctex-type 4

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,516,950...15,519,137
Ensembl chr15:15,518,369...15,519,028

G

EBNA1 binding protein 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,977,855...16,986,208
Ensembl chr15:16,977,850...16,985,927

G

endothelin 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:1,647,966...1,654,272
Ensembl chr15:1,648,077...1,654,272

G

eukaryotic translation initiation factor 2B subunit gamma

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,337,421...15,481,427
Ensembl chr15:15,337,483...15,481,425

G

ELOVL fatty acid elongase 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,798,305...16,803,071
Ensembl chr15:16,798,370...16,802,899

G

EPH receptor A10

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,756,136...4,789,494

G

ERI1 exoribonuclease family member 3

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,948,986...16,076,804
Ensembl chr15:15,948,932...16,076,529

G

erythroblast membrane associated protein

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:527,726...543,364
Ensembl chr15:526,067...543,638

G

eva-1 homolog B

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:5,939,279...5,940,890
Ensembl chr15:5,938,642...5,941,636

G

exonuclease 5

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,497,292...2,502,776

G

four and a half LIM domains 3

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,588,101...4,590,994
Ensembl chr15:4,582,483...4,590,435

G

fibronectin type III domain containing 5

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr 2:68,485,941...68,493,491
Ensembl chr 2:68,485,935...68,492,606

G

forkhead box J3

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:941,301...1,081,389
Ensembl chr15:941,274...1,078,563

G

forkhead box O6

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:1,760,034...1,772,224

G

gap junction protein alpha 4

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:7,167,665...7,170,388

G

gap junction protein alpha 9

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:3,862,418...3,864,296
Ensembl chr15:3,862,418...3,864,480

G

gap junction protein beta 3

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:7,175,010...7,177,145

G

gap junction protein beta 4

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:7,193,183...7,195,586

G

gap junction protein beta 5

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:7,196,720...7,199,652

G

G protein nucleolar 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,890,318...4,915,229
Ensembl chr15:4,890,358...4,917,152

G

GC-rich promoter binding protein 1 like 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:14,672,628...14,734,045
Ensembl chr15:14,701,923...14,734,056

G

glutamate ionotropic receptor kainate type subunit 3

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:5,331,746...5,550,975
Ensembl chr15:5,331,717...5,549,181

G

guanylate cyclase activator 2A

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:1,090,109...1,091,277
Ensembl chr15:1,090,109...1,091,375

G

guanylate cyclase activator 2B

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:1,094,283...1,096,605
Ensembl chr15:1,094,276...1,096,688

G

HECT domain E3 ubiquitin protein ligase 3

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,319,264...15,328,034
Ensembl chr15:15,319,259...15,327,085

G

hes related family bHLH transcription factor with YRPW motif like

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:3,242,738...3,257,275
Ensembl chr15:3,235,611...3,303,445

G

HIVEP zinc finger 3

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:1,302,964...1,626,834
Ensembl chr15:1,464,865...1,623,027

G

high mobility group box 4

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:7,915,066...7,915,803
Ensembl chr15:7,915,096...7,915,920

G

hippocalcin

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr 2:68,464,631...68,473,661
Ensembl chr 2:68,465,280...68,473,310

G

hippocalcin like 4

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:3,196,653...3,205,191
Ensembl chr15:3,194,653...3,201,425

G

4-hydroxyphenylpyruvate dioxygenase like

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,019,273...15,028,932
Ensembl chr15:15,027,472...15,028,671

G

heat shock protein family B (small) member 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576

G

hydroxypyruvate isomerase (putative)

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,726,441...16,729,070
Ensembl chr15:16,726,274...16,729,062

G

inositol polyphosphate-5-phosphatase B

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,627,536...4,678,611
Ensembl chr15:4,628,278...4,678,574

G

importin 13

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,293,293...16,313,841
Ensembl chr15:16,293,293...16,313,571

G

intracisternal A particle-promoted polypeptide

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:14,621,969...14,669,728
Ensembl chr15:14,621,600...14,669,561

G

potassium voltage-gated channel subfamily Q member 4

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,203,938...2,257,152
Ensembl chr15:2,205,276...2,242,093

G

lysine demethylase 4A

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,521,760...16,570,965
Ensembl chr15:16,521,700...16,571,000

G

KIAA0319 like

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,583,519...6,674,868
Ensembl chr15:6,583,488...6,675,579

G

kinesin family member 2C

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,558,024...15,579,371
Ensembl chr15:15,558,021...15,579,217

G

KLF transcription factor 17

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,147,898...16,160,548
Ensembl chr15:16,148,857...16,160,462

G

bone morphogenetic protein 8B

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:3,325,155...3,357,888

G

phosphatidylinositol 3-kinase regulatory subunit gamma

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:14,222,059...14,357,200
Ensembl chr15:14,235,824...14,353,832

G

zinc finger protein 684

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,476,742...2,502,729
Ensembl chr15:2,477,400...2,503,684

G

transmembrane protein 125

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,890,613...16,897,298
Ensembl chr15:16,893,406...16,894,053

G

LSM10, U7 small nuclear RNA associated

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:5,886,029...5,888,859
Ensembl chr15:5,887,948...5,888,319

G

microtubule actin crosslinking factor 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:3,361,887...3,703,891
Ensembl chr15:3,362,867...3,573,325

G

mannosidase endo-alpha like

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,729,209...4,733,832
Ensembl chr15:4,730,355...4,734,568

G

MAP7 domain containing 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,046,055...6,068,701
Ensembl chr15:6,046,269...6,068,652

G

microtubule associated serine/threonine kinase 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:14,361,225...14,569,502
Ensembl chr15:14,361,281...14,569,878

G

MYST/Esa1 associated factor 6

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,944,059...4,971,573
Ensembl chr15:4,943,430...4,964,391

G

mediator complex subunit 8

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,780,514...16,786,013

G

MFSD2 lysolipid transporter A, lysophospholipid

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,966,433...2,979,030
Ensembl chr15:2,966,461...2,978,968

G

microRNA mir-30c-1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,280,050...2,280,110
Ensembl chr15:2,280,039...2,280,121

G

metabolism of cobalamin associated C

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:14,857,236...14,863,211
Ensembl chr15:14,857,231...14,863,113

G

MPL proto-oncogene, thrombopoietin receptor

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350

G

mitochondrial ribosomal protein S15

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:5,836,267...5,841,581
Ensembl chr15:5,836,348...5,841,087

G

metal regulatory transcription factor 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,679,945...4,723,111
Ensembl chr15:4,680,372...4,717,561

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,018,345...15,026,539
Ensembl chr15:14,906,543...15,026,539

G

MYC binding protein

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:3,865,175...3,870,938
Ensembl chr15:3,865,175...3,870,984

G

MYCL proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,975,757...3,019,313
Ensembl chr15:3,006,409...3,013,381

G

nuclear autoantigenic sperm protein

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:14,742,008...14,782,186
Ensembl chr15:14,742,012...14,808,592

G

neurochondrin

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,573,936...6,583,168
Ensembl chr15:6,574,614...6,583,109

G

NADH:ubiquinone oxidoreductase subunit S5

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:3,741,863...3,748,973
Ensembl chr15:3,741,867...3,821,625

G

nuclear transcription factor Y subunit gamma

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,268,050...2,334,939
Ensembl chr15:2,268,102...2,318,605

G

5'-nucleotidase, cytosolic IA

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:3,209,771...3,230,104
Ensembl chr15:3,209,869...3,222,983

G

organic solute carrier partner 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:5,857,122...5,876,457
Ensembl chr15:5,852,139...5,876,450

G

prolyl 3-hydroxylase 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:603,436...621,839
Ensembl chr15:603,329...621,568

G

polyhomeotic homolog 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr 2:67,993,587...68,115,307
Ensembl chr 2:67,993,366...68,115,324

G

polo like kinase 3

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,519,042...15,523,960
Ensembl chr15:15,519,026...15,524,230

G

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161

G

POU class 3 homeobox 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,547,868...4,549,469
Ensembl chr15:4,547,920...4,549,469

G

phosphopantothenoylcysteine synthetase

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:813,435...817,732
Ensembl chr15:813,870...816,825

G

peptidylprolyl isomerase E

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:3,156,067...3,173,028
Ensembl chr15:3,153,628...3,172,988

G

peptidylprolyl isomerase H

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:671,323...689,627
Ensembl chr15:671,324...689,544

G

palmitoyl-protein thioesterase 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,815,428...2,886,474
Ensembl chr15:2,859,979...2,894,425

G

peroxiredoxin 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:14,834,009...14,855,665
Ensembl chr15:14,838,652...14,862,971

G

proteasome 20S subunit beta 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,511,281...6,544,859
Ensembl chr15:6,511,325...6,544,857

G

patched 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,488,357...15,503,748
Ensembl chr15:15,487,639...15,503,234

G

protein tyrosine phosphatase receptor type F

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,590,908...16,666,673
Ensembl chr15:16,591,308...16,666,673

G

rhomboid like 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:3,805,257...3,854,983
Ensembl chr15:3,804,777...3,854,612

G

ribosomal modification protein rimK like family member A

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:853,705...888,721
Ensembl chr15:856,719...889,138

G

regulating synaptic membrane exocytosis 3

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,353,876...2,391,742
Ensembl chr15:2,353,693...2,404,431

G

RLF zinc finger

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,723,511...2,815,305
Ensembl chr15:2,723,272...2,815,540

G

ring finger protein 19B

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr 2:68,413,020...68,435,216
Ensembl chr 2:68,413,108...68,434,526

G

ring finger protein 220

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,664,025...15,898,564
Ensembl chr15:15,664,876...15,891,748

G

ribosomal protein S8

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,542,569...15,545,285
Ensembl chr15:15,542,580...15,545,163

G

Ras related GTP binding C

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:3,875,193...3,892,501
Ensembl chr15:3,874,116...3,892,504

G

R-spondin 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,857,887...4,876,077
Ensembl chr15:4,856,853...4,876,800

G

S100P binding protein

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

PMID:9536098 PMID:16199547 PMID:17576681 PMID:28492532

NCBI chr 2:68,495,783...68,535,847
Ensembl chr 2:68,496,880...68,535,609

G

Scm polycomb group protein homolog 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:1,917,503...2,056,325
Ensembl chr15:1,917,509...2,058,904

G

splicing factor 3a subunit 3

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,595,812...4,620,565

G

splicing factor proline and glutamine rich

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,879,955...6,896,309
Ensembl chr15:6,880,065...6,888,004

G

SH3 domain containing 21

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:5,941,581...5,954,878
Ensembl chr15:5,934,095...5,954,355

G

solute carrier family 2 member 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140

G

solute carrier family 6 member 9

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,235,342...16,267,161
Ensembl chr15:16,235,482...16,267,933

G

schlafen like 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,060,354...2,065,698
Ensembl chr15:2,061,707...2,065,698

G

small ArfGAP2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,568,287...2,614,963
Ensembl chr15:2,569,439...2,618,636

G

small integral membrane protein 12

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:7,121,532...7,126,450
Ensembl chr15:7,121,189...7,126,450

G

Smad nuclear interacting protein 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,924,035...4,934,565
Ensembl chr15:4,924,178...4,933,724

G

ST3 beta-galactoside alpha-2,3-sialyltransferase 3

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,324,752...16,434,256
Ensembl chr15:16,324,899...16,401,616

G

serine/threonine kinase 40

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:5,894,125...5,934,461
Ensembl chr15:5,894,933...5,932,791

G

small vasohibin binding protein

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:551,514...558,528
Ensembl chr15:551,873...558,475

G

SZT2 subunit of KICSTOR complex

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,729,068...16,780,549
Ensembl chr15:16,728,758...16,780,325

G

tektin 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,122,855...6,126,411
Ensembl chr15:6,122,859...6,126,617

G

testis associated actin remodelling kinase 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:14,871,104...15,014,896
Ensembl chr15:14,906,543...15,026,539

G

transcription factor AP-2 epsilon

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,552,255...6,556,863

G

thyroid hormone receptor associated protein 3

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:5,955,469...6,022,442
Ensembl chr15:5,956,316...6,021,875

G

tyrosine kinase with immunoglobulin like and EGF like domains 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:16,838,267...16,857,004
Ensembl chr15:16,838,582...16,856,946

G

transmembrane and coiled-coil domains 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,714,751...2,717,545
Ensembl chr15:2,714,744...2,717,434

G

transmembrane protein 53

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,640,232...15,661,829
Ensembl chr15:15,640,342...15,678,994

G

transmembrane protein 54

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr 2:68,458,489...68,464,684
Ensembl chr 2:68,458,179...68,465,185

G

transmembrane protein 69

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:14,666,926...14,671,839
Ensembl chr15:14,667,231...14,671,622

G

target of EGR1, exonuclease

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,014,790...15,018,285
Ensembl chr15:15,015,098...15,018,276

G

trafficking protein particle complex subunit 3

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,069,003...6,085,709
Ensembl chr15:6,074,486...6,085,423

G

tripartite motif containing 62

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr 2:68,247,138...68,265,530
Ensembl chr 2:68,247,139...68,264,754

G

tRNA isopentenyltransferase 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:3,013,928...3,071,029
Ensembl chr15:3,013,666...3,071,034

G

tetraspanin 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245

G

uroporphyrinogen decarboxylase

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,313,808...15,317,130
Ensembl chr15:15,312,674...15,320,010

G

UTP11 small subunit processome component

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,569,002...4,579,065
Ensembl chr15:4,568,202...4,579,023

G

tyrosyl-tRNA synthetase 1

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

PMID:3034524 PMID:9536098 PMID:14606043 PMID:16199547 PMID:16429158 More...

NCBI chr 2:68,535,402...68,566,197
Ensembl chr 2:68,535,447...68,565,439

G

Y-box binding protein 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:646,301...666,347
Ensembl chr15:646,584...666,329

G

yrdC N6-threonylcarbamoyltransferase domain containing

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,724,468...4,728,659
Ensembl chr15:4,723,716...4,728,000

G

zinc finger CCCH-type containing 12A

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:4,972,369...4,984,218
Ensembl chr15:4,972,956...4,980,371

G

ZFP69 zinc finger protein B

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,535,969...2,547,614
Ensembl chr15:2,512,402...2,547,699

G

ZFP69 zinc finger protein B

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,510,760...2,526,715
Ensembl chr15:2,512,402...2,547,699

G

zinc metallopeptidase STE24

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:2,669,546...2,708,480
Ensembl chr15:2,670,326...2,709,160

G

zinc finger MYM-type containing 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,918,292...6,946,293
Ensembl chr15:6,918,589...6,937,638

G

zinc finger MYM-type containing 4

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,677,596...6,800,579
Ensembl chr15:6,691,008...6,827,949

G

zinc finger MYM-type containing 6

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:6,965,362...7,006,314
Ensembl chr15:6,933,847...7,006,188

G

zinc finger MYND-type containing 12

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:817,339...842,089
Ensembl chr15:817,384...842,087

G

zinc finger protein 362

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr 2:68,142,574...68,182,938
Ensembl chr 2:68,142,342...68,168,440

G

zinc finger protein 691

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:519,467...524,757
Ensembl chr15:520,091...520,954

G

zinc finger and SCAN domain containing 20

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr 2:67,939,840...67,959,524
Ensembl chr 2:67,939,744...67,953,209

G

zinc finger SWIM-type containing 5

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C

NCBI chr15:15,109,965...15,312,935
Ensembl chr15:15,110,030...15,311,045

Term paths to the root

Path 1
Term	Annotations
disease	15603
disease of anatomical entity	15182
musculoskeletal system disease	7777
neuromuscular disease	3025
Charcot-Marie-Tooth disease	645
Charcot-Marie-Tooth disease intermediate type	254
Charcot-Marie-Tooth disease dominant intermediate C	176
Path 2
Term	Annotations
disease	15603
disease of anatomical entity	15182
nervous system disease	13239
central nervous system disease	11877
neurodegenerative disease	4723
Nervous System Heredodegenerative Disorders	3239
motor peripheral neuropathy	1186
Charcot-Marie-Tooth disease	645
Charcot-Marie-Tooth disease intermediate type	254
Charcot-Marie-Tooth disease dominant intermediate C	176

paths to the root