Charcot-Marie-Tooth disease type 4 - Ontology Report

PMID:9536098 PMID:12687498 PMID:15304601 PMID:16199547 PMID:17576681 More...

NCBI chr11:9,839,142...9,929,263
Ensembl chr11:9,839,143...9,929,263

AFG1 like ATPase

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624780:13,769,419...14,031,477
Ensembl chrNW_004624780:13,771,341...14,038,146

AFG1 like ATPase

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:65,341,306...65,559,829
Ensembl chr13:65,331,879...65,531,108

AFG1 like ATPase

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:74,367,421...74,590,766
Ensembl chr 1:74,367,617...74,591,853

AFG1 like ATPase

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:4,553,758...4,755,126
Ensembl chrNW_004936564:4,553,732...4,757,616

AFG1 like ATPase

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:65,312,922...65,516,207
Ensembl chr12:65,313,140...65,515,992

AFG1 like ATPase

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:106,097,263...106,326,453
Ensembl chr 6:109,956,916...110,367,328

AFG1 like ATPase

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:33,386,568...33,617,721
Ensembl chrNW_004955411:33,386,098...33,617,721

AFG1 like ATPase

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:45,798,344...45,967,997
Ensembl chr20:45,798,349...45,967,906

AFG1 like ATPase

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:42,188,577...42,354,561
Ensembl chr10:42,188,581...42,354,561

AFG1 like ATPase

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:108,295,054...108,526,001
Ensembl chr 6:108,294,991...108,526,796

adenylate kinase 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624805:30,647...163,314
Ensembl chrNW_004624805:30,555...159,236

adenylate kinase 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:64,187,376...64,379,458
Ensembl chr13:64,196,413...64,379,460

adenylate kinase 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:75,558,009...75,693,415

adenylate kinase 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:5,610,445...5,727,782

adenylate kinase 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:66,381,215...66,508,559
Ensembl chr12:66,389,190...66,500,273

adenylate kinase 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:107,296,088...107,495,623
Ensembl chr 6:111,344,834...111,539,932

adenylate kinase 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955402:704...128,521
Ensembl chrNW_004955402:665...124,777

adenylate kinase 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:44,724,494...44,941,135
Ensembl chr20:44,724,496...44,941,136

adenylate kinase 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:41,179,433...41,309,565
Ensembl chr10:41,179,976...41,310,530

adenylate kinase 9

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:109,492,855...109,691,202
Ensembl chr 6:109,492,855...109,691,217

armadillo repeat containing 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624916:104,856...219,341
Ensembl chrNW_004624916:104,119...219,359

armadillo repeat containing 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:64,877,181...65,098,517
Ensembl chr13:64,876,837...65,098,116

armadillo repeat containing 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:74,923,824...75,081,742
Ensembl chr 1:74,923,868...75,043,060

armadillo repeat containing 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:5,061,340...5,179,371

armadillo repeat containing 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:65,829,110...65,933,378
Ensembl chr12:65,824,672...65,933,098

armadillo repeat containing 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:106,650,907...106,777,544
Ensembl chr 6:110,701,552...110,826,937

armadillo repeat containing 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:33,921,459...34,021,375

armadillo repeat containing 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:45,395,859...45,501,808
Ensembl chr20:45,394,127...45,504,819

armadillo repeat containing 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:41,784,284...41,894,383
Ensembl chr10:41,790,986...41,894,438

armadillo repeat containing 2

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:108,848,422...109,053,040
Ensembl chr 6:108,848,416...108,974,476

BEN domain containing 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624780:15,184,494...15,221,419
Ensembl chrNW_004624780:15,184,450...15,224,493

BEN domain containing 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:66,742,254...66,789,178
Ensembl chr13:66,759,013...66,785,670

BEN domain containing 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:73,184,745...73,224,663
Ensembl chr 1:73,184,753...73,241,022

BEN domain containing 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:3,495,020...3,513,684
Ensembl chrNW_004936564:3,496,392...3,513,671

BEN domain containing 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:64,302,403...64,324,396
Ensembl chr12:64,306,140...64,322,725

BEN domain containing 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:104,875,201...104,926,926
Ensembl chr 6:108,745,993...108,778,116

BEN domain containing 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:32,346,573...32,384,796
Ensembl chrNW_004955411:32,345,577...32,384,796

BEN domain containing 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:46,980,246...47,017,059
Ensembl chr20:46,979,831...47,014,671

BEN domain containing 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:43,355,130...43,391,413
Ensembl chr10:43,354,827...43,391,392

BEN domain containing 3

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:107,065,182...107,115,515
Ensembl chr 6:107,065,182...107,115,515

cellular communication network factor 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624735:22,789,784...22,819,527
Ensembl chrNW_004624735:22,788,475...22,819,648

cellular communication network factor 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:127,620,635...127,658,132
Ensembl chr 8:127,642,598...127,661,462

cellular communication network factor 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 4:8,078,163...8,110,906
Ensembl chr 4:8,079,755...8,110,700

cellular communication network factor 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936470:16,110,492...16,134,065
Ensembl chrNW_004936470:16,110,497...16,134,065

cellular communication network factor 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:29,648,720...29,683,822
Ensembl chr13:29,648,639...29,679,732

cellular communication network factor 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:129,842,580...129,884,528
Ensembl chr 8:132,818,397...132,858,861

cellular communication network factor 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955461:7,748,399...7,780,359
Ensembl chrNW_004955461:7,748,005...7,780,427

cellular communication network factor 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 7:98,645,238...98,677,253
Ensembl chr 7:98,645,182...98,677,248

cellular communication network factor 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr15:66,763,337...66,795,050
Ensembl chr15:66,763,169...66,795,050

cellular communication network factor 4

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:133,191,039...133,231,690
Ensembl chr 8:133,191,039...133,231,690

CD164 molecule

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624916:643,145...656,266

CD164 molecule

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:64,482,079...64,498,540
Ensembl chr13:64,481,790...64,499,135

CD164 molecule

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:75,441,568...75,458,140
Ensembl chr 1:75,441,575...75,458,145

CD164 molecule

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:5,510,718...5,522,637

CD164 molecule

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:66,295,444...66,309,691
Ensembl chr12:66,297,248...66,310,186

CD164 molecule

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:107,169,540...107,185,815
Ensembl chr 6:111,218,303...111,234,203

CD164 molecule

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:34,423,727...34,439,295

CD164 molecule

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:45,024,051...45,035,628
Ensembl chr20:45,023,973...45,035,634

CD164 antigen

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:41,395,496...41,407,038
Ensembl chr10:41,395,410...41,407,044

CD164 molecule

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:109,366,514...109,382,467
Ensembl chr 6:109,366,514...109,382,467

centrosomal protein 57 like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624916:333,369...407,633
Ensembl chrNW_004624916:379,522...404,186

centrosomal protein 57 like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:64,700,812...64,755,742
Ensembl chr13:64,702,595...64,718,542

centrosomal protein 57 like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:75,170,989...75,228,210
Ensembl chr 1:75,171,061...75,227,022

centrosomal protein 57 like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:5,292,214...5,335,112
Ensembl chrNW_004936564:5,299,512...5,337,844

centrosomal protein 57 like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:66,058,098...66,133,632
Ensembl chr12:66,058,418...66,127,027

centrosomal protein 57 like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:106,896,158...106,965,644
Ensembl chr 6:110,980,433...111,015,188

centrosomal protein 57 like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:34,140,830...34,213,086
Ensembl chrNW_004955411:34,187,569...34,212,182

centrosomal protein 57-like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:45,238,039...45,294,575
Ensembl chr20:45,238,044...45,294,540

centrosomal protein 57-like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:41,594,836...41,686,413
Ensembl chr10:41,594,836...41,685,867

centrosomal protein 57 like 1

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:109,095,163...109,174,418
Ensembl chr 6:109,095,110...109,174,418

dynein axonemal assembly factor 11

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624735:23,269,253...23,355,832
Ensembl chrNW_004624735:23,269,414...23,355,968

dynein axonemal assembly factor 11

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:127,010,303...127,103,343
Ensembl chr 8:127,008,619...127,103,300

dynein axonemal assembly factor 11

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 4:8,531,612...8,605,904
Ensembl chr 4:8,532,739...8,608,582

dynein axonemal assembly factor 11

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936470:16,557,381...16,640,519
Ensembl chrNW_004936470:16,557,371...16,640,553

dynein axonemal assembly factor 11

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:29,128,500...29,199,354
Ensembl chr13:29,128,504...29,199,323

dynein axonemal assembly factor 11

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:129,223,591...129,329,535
Ensembl chr 8:132,199,607...132,305,351

dynein axonemal assembly factor 11

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955461:7,204,165...7,311,524
Ensembl chrNW_004955461:7,204,339...7,312,241

dynein axonemal assembly factor 11

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837

dynein axonemal assembly factor 11

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr15:66,251,707...66,372,769
Ensembl chr15:66,251,707...66,372,759

dynein axonemal assembly factor 11

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592

dynamin 1 like

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624778:3,391,690...3,475,548

dynamin 1 like

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr11:32,114,642...32,178,330
Ensembl chr11:32,114,675...32,177,661

dynamin 1 like

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936607:3,576,357...3,632,423
Ensembl chrNW_004936607:3,576,392...3,632,554

dynamin 1 like

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957

dynamin 1 like

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376

dynamin 1 like

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955505:3,025,742...3,081,491
Ensembl chrNW_004955505:3,023,018...3,081,680

dynamin 1-like

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482

dynamin 1-like

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823

dynamin 1 like

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650

dystrophin related protein 2

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chrNW_004624902:1,270,925...1,313,122
Ensembl chrNW_004624902:1,270,959...1,313,097

dystrophin related protein 2

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr X:89,561,207...89,606,402
Ensembl chr X:89,573,770...89,602,542

dystrophin related protein 2

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr X:82,871,901...82,925,889
Ensembl chr X:82,872,197...82,925,883

dystrophin related protein 2

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chrNW_004936813:292,408...334,079
Ensembl chrNW_004936813:292,396...334,020

dystrophin related protein 2

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr X:75,171,816...75,217,777
Ensembl chr X:75,171,507...75,212,782

dystrophin related protein 2

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr X:90,422,483...90,467,610
Ensembl chr X:100,558,208...100,603,233

dystrophin related protein 2

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chrNW_004955503:7,383,567...7,423,489
Ensembl chrNW_004955503:7,383,567...7,426,124

dystrophin related protein 2

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr X:97,607,577...97,658,117
Ensembl chr X:97,607,719...97,655,684

dystrophin related protein 2

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr X:133,304,868...133,357,323
Ensembl chr X:133,305,300...133,357,322

dystrophin related protein 2

IAGP

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr X:101,219,786...101,264,502
Ensembl chr X:101,219,769...101,264,502

dynein cytoplasmic 1 heavy chain 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:10862709 PMID:23664119 PMID:25484024 PMID:25497877 PMID:25512093 More...

NCBI chrNW_004624734:2,253,931...2,311,341
Ensembl chrNW_004624734:2,254,085...2,311,177

dynein cytoplasmic 1 heavy chain 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:10862709 PMID:23664119 PMID:25484024 PMID:25497877 PMID:25512093 More...

NCBI chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099

dynein cytoplasmic 1 heavy chain 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:10862709 PMID:23664119 PMID:25484024 PMID:25497877 PMID:25512093 More...

dynein cytoplasmic 1 heavy chain 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:10862709 PMID:23664119 PMID:25484024 PMID:25497877 PMID:25512093 More...

NCBI chrNW_004936835:225,879...290,160
Ensembl chrNW_004936835:225,324...289,954

dynein cytoplasmic 1 heavy chain 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:10862709 PMID:23664119 PMID:25484024 PMID:25497877 PMID:25512093 More...

NCBI chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825

dynein cytoplasmic 1 heavy chain 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:10862709 PMID:23664119 PMID:25484024 PMID:25497877 PMID:25512093 More...

NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475

dynein cytoplasmic 1 heavy chain 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:10862709 PMID:23664119 PMID:25484024 PMID:25497877 PMID:25512093 More...

NCBI chrNW_004955538:1,388,595...1,458,166
Ensembl chrNW_004955538:1,390,137...1,458,025

dynein cytoplasmic 1 heavy chain 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:10862709 PMID:23664119 PMID:25484024 PMID:25497877 PMID:25512093 More...

NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883

dynein cytoplasmic 1 heavy chain 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:10862709 PMID:23664119 PMID:25484024 PMID:25497877 PMID:25512093 More...

NCBI chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379

dynein cytoplasmic 1 heavy chain 1

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4
ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:10862709 PMID:23664119 PMID:25484024 PMID:25497877 PMID:25512093 More...

NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443

FYVE, RhoGEF and PH domain containing 4

ISO

PMID:9536098 PMID:15744041 PMID:16199547 PMID:17564959 PMID:17564972 More...

NCBI chrNW_004624778:3,509,546...3,743,213
Ensembl chrNW_004624778:3,498,436...3,743,312

FYVE, RhoGEF and PH domain containing 4

ISO

PMID:9536098 PMID:15744041 PMID:16199547 PMID:17564959 PMID:17564972 More...

NCBI chr11:31,831,051...32,080,267

FYVE, RhoGEF and PH domain containing 4

ISO

PMID:9536098 PMID:15744041 PMID:16199547 PMID:17564959 PMID:17564972 More...

NCBI chr 5:41,683,265...41,879,197
Ensembl chr 5:41,680,452...41,879,062

FYVE, RhoGEF and PH domain containing 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 5:41,571,054...41,636,058
Ensembl chr 5:41,570,282...41,636,028

FYVE, RhoGEF and PH domain containing 4

ISO

PMID:9536098 PMID:15744041 PMID:16199547 PMID:17564959 PMID:17564972 More...

NCBI chrNW_004936607:3,675,217...3,796,329
Ensembl chrNW_004936607:3,679,887...3,877,470

FYVE, RhoGEF and PH domain containing 4

ISO

PMID:9536098 PMID:15744041 PMID:16199547 PMID:17564959 PMID:17564972 More...

NCBI chr27:16,252,405...16,464,099
Ensembl chr27:16,254,542...16,464,112

FYVE, RhoGEF and PH domain containing 4

ISO

PMID:9536098 PMID:15744041 PMID:16199547 PMID:17564959 PMID:17564972 More...

NCBI chr12:53,574,573...53,822,971
Ensembl chr12:56,181,565...56,421,810

FYVE, RhoGEF and PH domain containing 4

ISO

PMID:9536098 PMID:15744041 PMID:16199547 PMID:17564959 PMID:17564972 More...

NCBI chrNW_004955505:3,108,131...3,314,040
Ensembl chrNW_004955505:3,099,672...3,239,950

FYVE, RhoGEF and PH domain containing 4

ISO

PMID:9536098 PMID:15744041 PMID:16199547 PMID:17564959 PMID:17564972 More...

NCBI chr11:84,399,989...84,551,013
Ensembl chr11:84,399,816...84,546,972

FYVE, RhoGEF and PH domain containing 4

ISO

PMID:9536098 PMID:15744041 PMID:16199547 PMID:17564959 PMID:17564972 More...

NCBI chr16:16,234,774...16,418,400
Ensembl chr16:16,234,781...16,418,413

FYVE, RhoGEF and PH domain containing 4

IAGP

PMID:9536098 PMID:15744041 PMID:16199547 PMID:17564959 PMID:17564972 More...

NCBI chr12:32,399,558...32,646,050
Ensembl chr12:32,399,558...32,646,050

FIG4 phosphoinositide 5-phosphatase

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 More...

NCBI chrNW_004624850:29,362...156,346

FIG4 phosphoinositide 5-phosphatase

ISO

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 More...

NCBI chr13:64,054,000...64,186,800
Ensembl chr13:64,054,002...64,186,714

FIG4 phosphoinositide 5-phosphatase

ISO

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 More...

NCBI chr 1:75,694,151...75,847,021
Ensembl chr 1:75,694,151...75,847,528

FIG4 phosphoinositide 5-phosphatase

ISO

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 More...

NCBI chrNW_004936564:5,736,908...5,842,210
Ensembl chrNW_004936564:5,736,873...5,842,722

FIG4 phosphoinositide 5-phosphatase

ISO

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 More...

NCBI chr12:66,508,801...66,632,830
Ensembl chr12:66,509,431...66,632,822

FIG4 phosphoinositide 5-phosphatase

ISO

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 More...

NCBI chr 6:107,495,637...107,631,201
Ensembl chr 6:111,539,937...111,673,894

FIG4 phosphoinositide 5-phosphatase

ISO

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 More...

NCBI chrNW_004955411:3,135,752...3,217,891

FIG4 phosphoinositide 5-phosphatase

ISO

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 More...

NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844

FIG4 phosphoinositide 5-phosphatase

ISO

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 More...

NCBI chr10:41,064,168...41,179,237
Ensembl chr10:41,064,168...41,179,256

FIG4 phosphoinositide 5-phosphatase

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18261132 More...

NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098

forkhead box O3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624780:13,621,733...13,740,399
Ensembl chrNW_004624780:13,622,948...13,740,374

forkhead box O3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:65,175,764...65,303,107
Ensembl chr13:65,195,376...65,301,725

forkhead box O3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325

forkhead box O3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:4,788,036...4,907,600
Ensembl chrNW_004936564:4,787,992...4,903,837

forkhead box O3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198

forkhead box O3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272

forkhead box O3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:33,655,958...33,770,829
Ensembl chrNW_004955411:33,655,958...33,770,829

forkhead box O3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:47,251,968...47,348,254
Ensembl chr20:45,672,995...45,764,561

forkhead box O3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751

forkhead box O3

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774

ganglioside induced differentiation associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:11743580 PMID:25741868 PMID:28492532 PMID:31673878

NCBI chrNW_004624744:16,859,946...16,878,723
Ensembl chrNW_004624744:16,859,700...16,879,057

ganglioside induced differentiation associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:11743580 PMID:25741868 PMID:28492532 PMID:31673878

NCBI chr 8:69,948,800...69,965,168
Ensembl chr 8:69,949,052...69,966,421

ganglioside induced differentiation associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:11743580 PMID:25741868 PMID:28492532 PMID:31673878

NCBI chr 4:61,577,413...61,596,106
Ensembl chr 4:61,577,112...61,596,049

ganglioside induced differentiation associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:11743580 PMID:25741868 PMID:28492532 PMID:31673878

NCBI chrNW_004936648:2,981,802...2,999,161
Ensembl chrNW_004936648:2,981,546...3,014,430

ganglioside induced differentiation associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:11743580 PMID:25741868 PMID:28492532 PMID:31673878

NCBI chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069

ganglioside induced differentiation associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:11743580 PMID:25741868 PMID:28492532 PMID:31673878

NCBI chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346

ganglioside induced differentiation associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:11743580 PMID:25741868 PMID:28492532 PMID:31673878

NCBI chrNW_004955444:6,053,422...6,069,741
Ensembl chrNW_004955444:6,051,301...6,069,765

ganglioside-induced differentiation-associated-protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:11743580 PMID:25741868 PMID:28492532 PMID:31673878

NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061

ganglioside-induced differentiation-associated-protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:11743580 PMID:25741868 PMID:28492532 PMID:31673878

NCBI chr 1:17,202,028...17,234,513
Ensembl chr 1:17,215,586...17,234,495

ganglioside induced differentiation associated protein 1

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:11743580 PMID:25741868 PMID:28492532 PMID:31673878

NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007

heat shock protein family B (small) member 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624740:14,940,161...14,941,561
Ensembl chrNW_004624740:14,939,445...14,941,819

heat shock protein family B (small) member 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr28:10,442,530...10,443,804
Ensembl chr28:10,442,398...10,443,855

heat shock protein family B (small) member 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704

heat shock protein family B (small) member 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936543:2,110,351...2,111,896
Ensembl chrNW_004936543:2,110,304...2,112,186

heat shock protein family B (small) member 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

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

heat shock protein family B (small) member 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984

heat shock protein family B (small) member 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955844:8,094...9,565
Ensembl chrNW_004955844:7,790...10,004

heat shock protein family B (small) member 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743

heat shock protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417

heat shock protein family B (small) member 1

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,305,813

potassium voltage-gated channel subfamily Q member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624735:23,441,042...23,752,197
Ensembl chrNW_004624735:23,441,042...23,751,247

potassium voltage-gated channel subfamily Q member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:126,566,288...126,921,354
Ensembl chr 8:126,566,545...126,622,712

potassium voltage-gated channel subfamily Q member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 4:8,669,969...8,978,656
Ensembl chr 4:8,669,121...8,970,342

potassium voltage-gated channel subfamily Q member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936470:16,712,508...17,009,648
Ensembl chrNW_004936470:16,712,703...17,009,397

potassium voltage-gated channel subfamily Q member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:28,765,472...29,062,371
Ensembl chr13:28,773,738...29,062,370

potassium voltage-gated channel subfamily Q member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:128,769,930...129,134,671
Ensembl chr 8:131,755,454...131,815,237

potassium voltage-gated channel subfamily Q member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955461:6,793,877...7,119,859
Ensembl chrNW_004955461:6,797,018...7,119,569

potassium voltage-gated channel subfamily Q member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653

potassium voltage-gated channel, subfamily Q, member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr15:65,858,223...66,158,485
Ensembl chr15:65,858,236...66,158,491

potassium voltage-gated channel subfamily Q member 3

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:132,120,861...132,481,095
Ensembl chr 8:132,120,861...132,481,095

kinesin family member 1B

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624818:2,282,999...2,428,586
Ensembl chrNW_004624818:2,282,999...2,428,563

kinesin family member 1B

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:121,393,478...121,567,704
Ensembl chr20:121,395,836...121,546,803

kinesin family member 1B

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,661,798

kinesin family member 1B

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936623:4,091,093...4,222,510
Ensembl chrNW_004936623:4,091,190...4,218,251

kinesin family member 1B

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476

kinesin family member 1B

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577
Ensembl chr 1:10,198,997...10,364,577

kinesin family member 1B

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955486:3,366,791...3,503,845
Ensembl chrNW_004955486:3,370,596...3,489,052

kinesin family member 1B

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778

kinesin family member 1B

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150

kinesin family member 1B

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603

LOC105369149

uncharacterized LOC105369149

IAGP

PMID:9536098 PMID:12687498 PMID:16199547 PMID:17576681 PMID:25741868 More...

NCBI chr11:9,780,547...9,791,244

LOC114004390

Sharpr-MPRA regulatory region 10809

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 5:149,063,026...149,063,320

LOC126807546

P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:148363540-148364739

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 5:148,983,977...148,985,176

LOC126860531

CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:134259869-134261068

IAGP

PMID:9536098 PMID:12872253 PMID:16199547 PMID:17576681 PMID:23996628 More...

NCBI chr 8:133,247,626...133,248,825

LOC126861136

MED14-independent group 3 enhancer GRCh37_chr11:10004023-10005222

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr11:9,982,476...9,983,675

LOC126861137

MED14-independent group 3 enhancer GRCh37_chr11:10065715-10066914

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr11:10,044,168...10,045,367

LOC129929423

ATAC-STARR-seq lymphoblastoid silent region 279

IAGP

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr 1:11,980,060...11,980,319

LOC130000622

ATAC-STARR-seq lymphoblastoid active region 27542

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:11743580 PMID:25741868 PMID:28492532 PMID:31673878

NCBI chr 8:74,350,416...74,350,645

LOC130005300

ATAC-STARR-seq lymphoblastoid active region 4426

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr11:9,855,808...9,855,907

LOC130005303

ATAC-STARR-seq lymphoblastoid silent region 3141

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:9536098 PMID:12687498 PMID:17576681 PMID:25873783 PMID:28492532

NCBI chr11:10,293,907...10,294,186

LOC130064453

ATAC-STARR-seq lymphoblastoid silent region 10621

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr19:40,403,520...40,403,689

LOC130064454

ATAC-STARR-seq lymphoblastoid active region 14650

IAGP

PMID:11133365 PMID:25164601 PMID:25741868 PMID:26467025 PMID:28492532 More...

NCBI chr19:40,403,730...40,403,949

LOC130064455

ATAC-STARR-seq lymphoblastoid silent region 10622

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr19:40,404,600...40,404,649

leucine rich repeat and sterile alpha motif containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624760:7,997,803...8,044,758
Ensembl chrNW_004624760:7,998,107...8,032,972

leucine rich repeat and sterile alpha motif containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:10,623,118...10,677,002
Ensembl chr12:10,622,893...10,676,553

leucine rich repeat and sterile alpha motif containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:267,964,875...268,008,833
Ensembl chr 1:267,964,928...268,008,825

leucine rich repeat and sterile alpha motif containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936487:15,181,009...15,217,952
Ensembl chrNW_004936487:15,180,811...15,217,406

leucine rich repeat and sterile alpha motif containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 9:55,855,576...55,894,915
Ensembl chr 9:55,856,091...55,894,488

leucine rich repeat and sterile alpha motif containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 9:98,571,796...98,623,581
Ensembl chr 9:127,245,508...127,297,645

leucine rich repeat and sterile alpha motif containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955419:1,121,127...1,154,356
Ensembl chrNW_004955419:1,121,127...1,154,356

leucine rich repeat and sterile alpha motif containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 3:36,621,042...36,661,932
Ensembl chr 3:16,223,367...16,264,154

leucine rich repeat and sterile alpha motif containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 2:32,815,227...32,851,666
Ensembl chr 2:32,815,228...32,851,626

leucine rich repeat and sterile alpha motif containing 1

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 9:127,451,486...127,503,501
Ensembl chr 9:127,451,489...127,503,499

mitofusin 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:15549395 PMID:16437557 PMID:16762064 PMID:16835246 PMID:17444508 More...

NCBI chrNW_004624818:1,041,371...1,065,061
Ensembl chrNW_004624818:1,041,369...1,065,023

mitofusin 2

ISO

PMID:15549395 PMID:16437557 PMID:16762064 PMID:16835246 PMID:17444508 More...

NCBI chr20:119,787,700...119,818,455
Ensembl chr20:119,787,370...119,816,693

mitofusin 2

ISO

PMID:15549395 PMID:16437557 PMID:16762064 PMID:16835246 PMID:17444508 More...

NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438

mitofusin 2

ISO

PMID:15549395 PMID:16437557 PMID:16762064 PMID:16835246 PMID:17444508 More...

NCBI chrNW_004936474:767,754...795,258
Ensembl chrNW_004936474:767,671...796,556

mitofusin 2

ISO

PMID:15549395 PMID:16437557 PMID:16762064 PMID:16835246 PMID:17444508 More...

NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225

mitofusin 2

ISO

PMID:15549395 PMID:16437557 PMID:16762064 PMID:16835246 PMID:17444508 More...

NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077

mitofusin 2

ISO

PMID:15549395 PMID:16437557 PMID:16762064 PMID:16835246 PMID:17444508 More...

NCBI chrNW_004955486:1,937,873...1,962,577
Ensembl chrNW_004955486:1,937,802...1,962,772

mitofusin 2

ISO

PMID:15549395 PMID:16437557 PMID:16762064 PMID:16835246 PMID:17444508 More...

NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342

mitofusin 2

ISO

PMID:15549395 PMID:16437557 PMID:16762064 PMID:16835246 PMID:17444508 More...

NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161

mitofusin 2

IAGP

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:15549395 PMID:16437557 PMID:16762064 PMID:16835246 PMID:17444508 More...

NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211

microtubule associated monooxygenase, calponin and LIM domain containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624916:701,118...712,254
Ensembl chrNW_004624916:701,249...710,148

microtubule associated monooxygenase, calponin and LIM domain containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:64,400,908...64,424,096
Ensembl chr13:64,400,152...64,427,366

microtubule associated monooxygenase, calponin and LIM domain containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:75,511,692...75,522,760
Ensembl chr 1:75,511,693...75,522,765

microtubule associated monooxygenase, calponin and LIM domain containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:5,568,613...5,579,402
Ensembl chrNW_004936564:5,568,767...5,577,915

microtubule associated monooxygenase, calponin and LIM domain containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:66,350,459...66,358,391
Ensembl chr12:66,350,427...66,360,615

microtubule associated monooxygenase, calponin and LIM domain containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:107,247,084...107,269,138
Ensembl chr 6:111,295,548...111,317,214

microtubule associated monooxygenase, calponin and LIM domain containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:34,484,536...34,495,154
Ensembl chrNW_004955411:34,484,653...34,493,877

microtubule associated monooxygenase, calponin and LIM domain containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:44,974,137...44,986,089
Ensembl chr20:44,974,138...44,986,089

microtubule associated monooxygenase, calponin and LIM domain containing 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:41,351,693...41,363,026
Ensembl chr10:41,352,310...41,363,028

microtubule associated monooxygenase, calponin and LIM domain containing 1

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:109,444,062...109,465,968
Ensembl chr 6:109,444,062...109,465,968

MORC family CW-type zinc finger 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624747:7,386,052...7,426,257
Ensembl chrNW_004624747:7,384,270...7,426,285

MORC family CW-type zinc finger 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr19:13,817,597...13,859,986
Ensembl chr19:13,815,467...13,858,633

MORC family CW-type zinc finger 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr14:47,755,264...47,800,432
Ensembl chr14:47,755,267...47,799,628

MORC family CW-type zinc finger 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936755:133,315...171,507
Ensembl chrNW_004936755:130,983...171,492

MORC family CW-type zinc finger 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr26:23,951,704...23,993,620
Ensembl chr26:23,953,130...23,992,431

MORC family CW-type zinc finger 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr22:11,912,043...11,995,497
Ensembl chr22:29,753,241...29,795,632

MORC family CW-type zinc finger 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955455:5,124,737...5,164,495
Ensembl chrNW_004955455:5,124,737...5,164,495

MORC family CW-type zinc finger 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343

MORC family CW-type zinc finger 2

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774

Morc2a

microrchidia 2A

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477

myotubularin related protein 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:8190646 PMID:9536098 PMID:10802647 PMID:10856930 PMID:11283303 More...

NCBI chrNW_004624735:40,673,156...40,770,693

myotubularin related protein 2

ISO

PMID:8190646 PMID:9536098 PMID:10802647 PMID:10856930 PMID:11283303 More...

NCBI chr 1:87,090,401...87,181,057
Ensembl chr 1:87,087,191...87,180,497

myotubularin related protein 2

ISO

PMID:8190646 PMID:9536098 PMID:10802647 PMID:10856930 PMID:11283303 More...

NCBI chr 9:27,864,335...27,974,448
Ensembl chr 9:27,854,491...27,974,423

myotubularin related protein 2

ISO

PMID:8190646 PMID:9536098 PMID:10802647 PMID:10856930 PMID:11283303 More...

NCBI chrNW_004936700:1,790,592...1,873,019
Ensembl chrNW_004936700:1,790,064...1,873,034

myotubularin related protein 2

ISO

PMID:8190646 PMID:9536098 PMID:10802647 PMID:10856930 PMID:11283303 More...

NCBI chr21:5,194,772...5,316,441
Ensembl chr21:5,194,604...5,315,375

myotubularin related protein 2

ISO

PMID:8190646 PMID:9536098 PMID:10802647 PMID:10856930 PMID:11283303 More...

NCBI chr11:90,839,577...90,929,731
Ensembl chr11:94,367,038...94,457,138

myotubularin related protein 2

ISO

PMID:8190646 PMID:9536098 PMID:10802647 PMID:10856930 PMID:11283303 More...

NCBI chrNW_004955412:693,743...764,377
Ensembl chrNW_004955412:693,743...750,154

myotubularin related protein 2

ISO

PMID:8190646 PMID:9536098 PMID:10802647 PMID:10856930 PMID:11283303 More...

NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172

myotubularin related protein 2

ISO

PMID:8190646 PMID:9536098 PMID:10802647 PMID:10856930 PMID:11283303 More...

NCBI chr 9:13,660,397...13,720,192
Ensembl chr 9:13,659,706...13,717,777

myotubularin related protein 2

IAGP

PMID:8190646 PMID:9536098 PMID:10802647 PMID:10856930 PMID:11283303 More...

NCBI chr11:95,832,880...95,924,107
Ensembl chr11:95,821,766...95,925,315

mitochondrial transcription rescue factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624780:15,233,686...15,246,172
Ensembl chrNW_004624780:15,233,566...15,246,178

mitochondrial transcription rescue factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:66,798,141...66,818,964
Ensembl chr13:66,798,134...66,807,567

mitochondrial transcription rescue factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:73,162,330...73,174,266
Ensembl chr 1:73,162,364...73,180,017

mitochondrial transcription rescue factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:3,467,223...3,482,507
Ensembl chrNW_004936564:3,467,192...3,482,720

mitochondrial transcription rescue factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:64,278,569...64,293,999
Ensembl chr12:64,244,529...64,303,579

mitochondrial transcription rescue factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:104,839,280...104,862,854
Ensembl chr 6:108,709,803...108,729,976

mitochondrial transcription rescue factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:32,318,079...32,338,597
Ensembl chrNW_004955411:32,318,079...32,341,989

mitochondrial transcription rescue factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:47,022,343...47,038,888
Ensembl chr20:47,022,342...47,038,805

mitochondrial transcription rescue factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:43,401,115...43,417,037
Ensembl chr10:43,401,129...43,416,990

mitochondrial transcription rescue factor 1

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:107,028,199...107,051,586
Ensembl chr 6:107,028,199...107,051,586

N-myc downstream regulated 1

ISO

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chrNW_004624735:22,734,365...22,782,247
Ensembl chrNW_004624735:22,734,228...22,782,347

N-myc downstream regulated 1

ISO

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chr 8:127,668,012...127,727,918
Ensembl chr 8:127,667,981...127,719,011

N-myc downstream regulated 1

ISO

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,335

N-myc downstream regulated 1

ISO

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chrNW_004936470:16,051,291...16,102,563
Ensembl chrNW_004936470:16,051,015...16,102,585

N-myc downstream regulated 1

ISO

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chr13:29,689,294...29,745,964
Ensembl chr13:29,650,444...29,746,382

N-myc downstream regulated 1

ISO

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514

N-myc downstream regulated 1

ISO

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chrNW_004955461:7,787,068...7,836,380
Ensembl chrNW_004955461:7,786,850...7,836,922

N-myc downstream regulated 1

ISO

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chr 7:100,573,526...100,614,902
Ensembl chr 7:98,684,487...98,725,880

N-myc downstream regulated gene 1

ISO

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489

N-myc downstream regulated 1

IAGP

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022

nuclear receptor subfamily 2 group E member 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624780:14,098,144...14,119,791
Ensembl chrNW_004624780:14,098,360...14,119,772

nuclear receptor subfamily 2 group E member 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:65,663,495...65,686,510
Ensembl chr13:65,664,826...65,685,807

nuclear receptor subfamily 2 group E member 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:74,266,667...74,292,686
Ensembl chr 1:74,271,042...74,292,681

nuclear receptor subfamily 2 group E member 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:4,432,556...4,453,056
Ensembl chrNW_004936564:4,432,485...4,453,486

nuclear receptor subfamily 2 group E member 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:65,209,177...65,230,274
Ensembl chr12:65,209,542...65,228,998

nuclear receptor subfamily 2 group E member 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:105,965,478...105,988,213
Ensembl chr 6:109,831,223...109,851,436

nuclear receptor subfamily 2 group E member 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:33,303,765...33,325,221
Ensembl chrNW_004955411:33,303,655...33,325,376

nuclear receptor subfamily 2, group E, member 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:46,050,134...46,071,257
Ensembl chr20:46,050,414...46,073,949

nuclear receptor subfamily 2, group E, member 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:42,437,959...42,459,721
Ensembl chr10:42,437,959...42,459,628

nuclear receptor subfamily 2 group E member 1

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:108,166,022...108,188,809
Ensembl chr 6:108,166,022...108,188,805

osteoclastogenesis associated transmembrane protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624780:14,212,803...14,247,818
Ensembl chrNW_004624780:14,212,762...14,247,994

osteoclastogenesis associated transmembrane protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:65,774,825...65,812,606
Ensembl chr13:65,774,844...65,809,272

osteoclastogenesis associated transmembrane protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:74,139,326...74,181,165
Ensembl chr 1:74,139,330...74,181,084

osteoclastogenesis associated transmembrane protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:4,301,569...4,332,070

osteoclastogenesis associated transmembrane protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:65,085,456...65,120,827
Ensembl chr12:65,087,243...65,120,832

osteoclastogenesis associated transmembrane protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:105,842,261...105,874,429
Ensembl chr 6:109,705,519...109,738,691

osteoclastogenesis associated transmembrane protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:33,168,868...33,205,452
Ensembl chrNW_004955411:33,171,264...33,205,486

osteoclastogenesis associated transmembrane protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:46,071,657...46,187,049
Ensembl chr20:46,153,075...46,187,023

osteopetrosis associated transmembrane protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:42,554,912...42,578,458
Ensembl chr10:42,459,818...42,578,455

osteoclastogenesis associated transmembrane protein 1

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854

decaprenyl diphosphate synthase subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624780:14,803,750...15,130,156
Ensembl chrNW_004624780:14,804,030...15,129,497

decaprenyl diphosphate synthase subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:66,405,014...66,704,559
Ensembl chr13:66,405,521...66,704,696

decaprenyl diphosphate synthase subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:73,234,950...73,510,533
Ensembl chr 1:73,235,100...73,510,535

decaprenyl diphosphate synthase subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:3,529,140...3,813,449
Ensembl chrNW_004936564:3,583,396...3,813,155

decaprenyl diphosphate synthase subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:64,371,548...64,620,652
Ensembl chr12:64,338,950...64,620,367

decaprenyl diphosphate synthase subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:104,963,942...105,272,807
Ensembl chr 6:108,833,223...109,137,055

decaprenyl diphosphate synthase subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:32,426,604...32,714,337
Ensembl chrNW_004955411:32,422,513...32,714,062

decaprenyl diphosphate synthase subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708

prenyl (solanesyl) diphosphate synthase, subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:43,095,396...43,340,878
Ensembl chr10:43,097,482...43,340,878

decaprenyl diphosphate synthase subunit 2

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:107,152,562...107,459,564
Ensembl chr 6:107,152,562...107,459,564

PHD finger protein 20 like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624735:23,101,075...23,171,195
Ensembl chrNW_004624735:23,101,075...23,171,145

PHD finger protein 20 like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:127,201,612...127,275,378
Ensembl chr 8:127,201,658...127,272,501

PHD finger protein 20 like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 4:8,394,874...8,468,309
Ensembl chr 4:8,394,897...8,468,297

PHD finger protein 20 like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936470:16,406,293...16,475,384
Ensembl chrNW_004936470:16,406,653...16,475,586

PHD finger protein 20 like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:29,260,381...29,338,345
Ensembl chr13:29,260,373...29,336,623

PHD finger protein 20 like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:129,427,157...129,500,633
Ensembl chr 8:132,403,053...132,474,452

PHD finger protein 20 like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955461:7,391,175...7,465,012
Ensembl chrNW_004955461:7,391,175...7,465,012

PHD finger protein 20-like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 7:98,330,580...98,396,526
Ensembl chr 7:98,330,580...98,396,526

PHD finger protein 20-like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr15:66,449,354...66,519,821
Ensembl chr15:66,449,409...66,519,825

PHD finger protein 20 like 1

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:132,775,388...132,848,807
Ensembl chr 8:132,775,358...132,848,807

phospholipase D family member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More...

NCBI chrNW_004624925:361,306...382,172
Ensembl chrNW_004624925:361,418...382,172

phospholipase D family member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More...

NCBI chr 6:34,804,574...34,833,975
Ensembl chr 6:34,804,500...34,836,333

phospholipase D family member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More...

NCBI chr 6:48,645,347...48,667,394
Ensembl chr 6:48,645,417...48,669,430

phospholipase D family member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More...

NCBI chrNW_004936661:2,741,523...2,763,945
Ensembl chrNW_004936661:2,741,234...2,767,121

phospholipase D family member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More...

NCBI chr 1:113,305,146...113,322,705
Ensembl chr 1:113,305,445...113,312,632

phospholipase D family member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More...

NCBI chr19:37,396,475...37,426,425
Ensembl chr19:45,910,035...45,939,343

phospholipase D family member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More...

NCBI chrNW_004955578:884,700...905,426
Ensembl chrNW_004955578:884,700...894,433

phospholipase D family, member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More...

NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072

phospholipase D family member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More...

NCBI chr 7:27,231,090...27,252,511
Ensembl chr 7:27,231,425...27,252,643

phospholipase D family member 3

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More...

NCBI chr19:40,348,695...40,378,485
Ensembl chr19:40,348,456...40,389,472

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chrNW_004624818:1,070,841...1,092,346
Ensembl chrNW_004624818:1,071,505...1,092,237

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr20:119,824,380...119,865,866

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chrNW_004936474:740,582...763,294
Ensembl chrNW_004936474:746,922...765,585

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr 2:84,320,529...84,343,562
Ensembl chr 2:84,320,529...84,343,562

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chrNW_004955486:1,967,771...1,990,561
Ensembl chrNW_004955486:1,967,167...1,990,561

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr 4:147,994,210...148,021,233
Ensembl chr 4:147,994,210...148,021,224

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

IAGP

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538

peptidylprolyl isomerase like 6

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624916:671,373...697,867
Ensembl chrNW_004624916:667,163...697,803

peptidylprolyl isomerase like 6

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:64,426,995...64,472,167

peptidylprolyl isomerase like 6

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:75,465,290...75,508,250
Ensembl chr 1:75,463,222...75,508,244

peptidylprolyl isomerase like 6

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:5,533,417...5,565,105
Ensembl chrNW_004936564:5,533,417...5,565,759

peptidylprolyl isomerase like 6

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:66,316,326...66,347,991
Ensembl chr12:66,316,425...66,342,950

peptidylprolyl isomerase like 6

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:107,193,192...107,244,193
Ensembl chr 6:111,242,022...111,292,657

peptidylprolyl isomerase like 6

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:34,449,508...34,481,370
Ensembl chrNW_004955411:34,452,864...34,481,366

peptidylprolyl isomerase like 6

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:44,989,509...45,017,833
Ensembl chr20:44,988,943...45,018,340

peptidylprolyl isomerase (cyclophilin)-like 6

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:41,366,414...41,390,286
Ensembl chr10:41,366,435...41,390,282

peptidylprolyl isomerase like 6

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:109,390,215...109,441,171
Ensembl chr 6:109,390,215...109,441,171

periaxin

ISO

PMID:2758284 PMID:9536098 PMID:10848494 PMID:11133365 PMID:11157804 More...

NCBI chrNW_004624925:393,285...407,817

periaxin

ISO

PMID:2758284 PMID:9536098 PMID:10848494 PMID:11133365 PMID:11157804 More...

NCBI chr 6:34,851,977...34,870,413
Ensembl chr 6:34,851,979...34,864,967

periaxin

ISO

PMID:2758284 PMID:9536098 PMID:10848494 PMID:11133365 PMID:11157804 More...

NCBI chr 6:48,675,230...48,691,760
Ensembl chr 6:48,675,418...48,685,851

periaxin

ISO

PMID:2758284 PMID:9536098 PMID:10848494 PMID:11133365 PMID:11157804 More...

NCBI chrNW_004936661:2,772,446...2,783,120
Ensembl chrNW_004936661:2,772,621...2,787,647

periaxin

ISO

PMID:2758284 PMID:9536098 PMID:10848494 PMID:11133365 PMID:11157804 More...

NCBI chr 1:113,279,940...113,294,042

periaxin

ISO

PMID:2758284 PMID:9536098 PMID:10848494 PMID:11133365 PMID:11157804 More...

NCBI chr19:37,442,299...37,461,844
Ensembl chr19:45,952,420...45,971,987

periaxin

ISO

PMID:2758284 PMID:9536098 PMID:10848494 PMID:11133365 PMID:11157804 More...

NCBI chrNW_004955578:852,789...873,319
Ensembl chrNW_004955578:868,534...874,168

periaxin

ISO

PMID:2758284 PMID:9536098 PMID:10848494 PMID:11133365 PMID:11157804 More...

NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407

periaxin

ISO

PMID:2758284 PMID:9536098 PMID:10848494 PMID:11133365 PMID:11157804 More...

NCBI chr 7:27,198,730...27,219,466
Ensembl chr 7:27,196,813...27,219,639

periaxin

IAGP

PMID:2758284 PMID:9536098 PMID:10848494 PMID:11133365 PMID:11157804 More...

NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793

glutaminyl-tRNA amidotransferase subunit QRSL1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624780:15,629,167...15,664,787
Ensembl chrNW_004624780:15,628,678...15,664,651

glutaminyl-tRNA amidotransferase subunit QRSL1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:67,153,372...67,188,775
Ensembl chr13:67,151,437...67,189,662

glutaminyl-tRNA amidotransferase subunit QRSL1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:72,815,601...72,846,871
Ensembl chr 1:72,815,613...72,844,843

glutaminyl-tRNA amidotransferase subunit QRSL1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:3,149,154...3,179,514
Ensembl chrNW_004936564:3,149,278...3,179,415

glutaminyl-tRNA amidotransferase subunit QRSL1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:63,972,423...64,003,506

glutaminyl-tRNA amidotransferase subunit QRSL1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:104,444,646...104,481,732
Ensembl chr 6:108,315,270...108,353,505

glutaminyl-tRNA amidotransferase subunit QRSL1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:31,950,727...31,981,522
Ensembl chrNW_004955411:31,950,828...31,981,468

glutaminyl-tRNA amidotransferase subunit QRSL1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:47,357,206...47,382,160
Ensembl chr20:47,357,216...47,382,135

glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:43,750,184...43,777,742
Ensembl chr10:43,750,184...43,777,741

glutaminyl-tRNA amidotransferase subunit QRSL1

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:106,629,578...106,668,417
Ensembl chr 6:106,629,578...106,668,417

reticulon 4 interacting protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624780:15,606,146...15,705,320
Ensembl chrNW_004624780:15,664,836...15,705,320

reticulon 4 interacting protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:67,188,707...67,243,288
Ensembl chr13:67,189,318...67,243,925

reticulon 4 interacting protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:72,763,453...72,816,450
Ensembl chr 1:72,762,855...72,815,540

reticulon 4 interacting protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:3,104,652...3,149,100
Ensembl chrNW_004936564:3,104,163...3,149,072

reticulon 4 interacting protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:63,926,803...63,972,417
Ensembl chr12:63,926,799...63,972,369

reticulon 4 interacting protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:104,368,222...104,444,583
Ensembl chr 6:108,258,745...108,315,214

reticulon 4 interacting protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:31,902,848...31,950,645
Ensembl chrNW_004955411:31,902,848...31,950,645

reticulon 4 interacting protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338

reticulon 4 interacting protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:43,777,772...43,823,860
Ensembl chr10:43,777,803...43,833,197

reticulon 4 interacting protein 1

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:106,570,771...106,630,491
Ensembl chr 6:106,570,771...106,629,498

SET binding factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624752:302,589...329,974
Ensembl chrNW_004624752:302,557...329,974

SET binding factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr19:32,919,029...32,945,333
Ensembl chr19:32,919,341...32,938,690

SET binding factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 5:260,779...284,512
Ensembl chr 5:260,935...284,509

SET binding factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936629:367,253...393,355
Ensembl chrNW_004936629:367,226...393,352

SET binding factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:16,823,456...16,845,800
Ensembl chr10:16,828,599...16,845,789

SET binding factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr22:30,691,976...30,723,128
Ensembl chr22:49,676,467...49,704,633

SET binding factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955413:33,427,283...33,450,581
Ensembl chrNW_004955413:33,427,214...33,452,415

SET binding factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902

SET binding factor 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr15:89,171,138...89,199,514
Ensembl chr15:89,172,439...89,199,514

SET binding factor 1

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr22:50,445,000...50,475,035
Ensembl chr22:50,443,219...50,483,923

SET binding factor 2

ISO

PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 PMID:15477569 More...

NCBI chrNW_004624766:1,907,531...2,384,055
Ensembl chrNW_004624766:1,909,101...2,383,924

SET binding factor 2

ISO

PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 PMID:15477569 More...

NCBI chr 1:54,531,651...55,048,599
Ensembl chr 1:54,531,689...55,048,986

SET binding factor 2

ISO

PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 PMID:15477569 More...

NCBI chr 2:49,242,739...49,691,807
Ensembl chr 2:49,242,734...49,698,478

SET binding factor 2

ISO

PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 PMID:15477569 More...

NCBI chrNW_004936528:8,080,563...8,418,703
Ensembl chrNW_004936528:8,188,654...8,417,101

SET binding factor 2

ISO

PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 PMID:15477569 More...

NCBI chr21:33,005,921...33,461,258
Ensembl chr21:33,007,380...33,461,115

SET binding factor 2

ISO

PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 PMID:15477569 More...

NCBI chr11:9,910,020...10,426,842
Ensembl chr11:9,641,471...10,154,501

SET binding factor 2

ISO

PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 PMID:15477569 More...

NCBI chrNW_004955414:25,463,962...25,845,368
Ensembl chrNW_004955414:25,465,560...25,845,369

SET binding factor 2

ISO

PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 PMID:15477569 More...

NCBI chr 1:164,352,892...164,719,883
Ensembl chr 1:164,353,444...164,719,807

SET binding factor 2

ISO

PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 PMID:15477569 More...

NCBI chr 7:109,907,218...110,215,150
Ensembl chr 7:109,907,220...110,214,129

SET binding factor 2

IAGP

PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 PMID:15477569 More...

NCBI chr11:9,778,668...10,304,841
Ensembl chr11:9,776,776...10,304,877

SBF2-AS1

SBF2 antisense RNA 1

IAGP

PMID:9536098 PMID:12687498 PMID:15477569 PMID:16199547 PMID:17576681 More...

NCBI chr11:9,758,293...9,811,319
Ensembl chr11:9,758,267...9,811,335

Scm polycomb group protein like 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624780:14,516,123...14,575,762
Ensembl chrNW_004624780:14,502,821...14,578,402

Scm polycomb group protein like 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:66,034,219...66,165,842
Ensembl chr13:66,034,792...66,156,205

Scm polycomb group protein like 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:73,838,808...73,982,634
Ensembl chr 1:73,843,012...73,968,699

Scm polycomb group protein like 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:4,042,148...4,144,950
Ensembl chrNW_004936564:4,043,248...4,144,950

Scm polycomb group protein like 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:64,851,495...64,937,140
Ensembl chr12:64,851,740...64,945,496

Scm polycomb group protein like 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:105,517,185...105,633,576
Ensembl chr 6:109,379,532...109,498,016

Scm polycomb group protein like 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:32,940,367...33,036,779
Ensembl chrNW_004955411:32,940,367...33,036,779

Scm polycomb group protein like 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:46,347,350...46,441,246
Ensembl chr20:46,347,413...46,440,103

Scm polycomb group protein like 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:42,736,314...42,836,778
Ensembl chr10:42,736,366...42,836,776

Scm polycomb group protein like 4

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:107,702,154...107,846,038
Ensembl chr 6:107,702,154...107,824,317

SEC63 homolog, protein translocation regulator

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624780:14,322,651...14,405,674
Ensembl chrNW_004624780:14,322,707...14,405,673

SEC63 homolog, protein translocation regulator

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:65,902,796...65,993,092
Ensembl chr13:65,902,956...65,996,514

SEC63 homolog, protein translocation regulator

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:74,003,428...74,078,605
Ensembl chr 1:74,000,688...74,078,582

SEC63 homolog, protein translocation regulator

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:4,182,330...4,221,927
Ensembl chrNW_004936564:4,179,584...4,221,904

SEC63 homolog, protein translocation regulator

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:64,983,442...65,028,573

SEC63 homolog, protein translocation regulator

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:105,673,265...105,757,422
Ensembl chr 6:109,538,184...109,595,518

SEC63 homolog, protein translocation regulator

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:33,063,056...33,126,325
Ensembl chrNW_004955411:33,063,989...33,126,105

SEC63 homolog, protein translocation regulator

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055

SEC63 homolog, protein translocation regulator

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:42,637,492...42,708,510
Ensembl chr10:42,637,492...42,708,510

SEC63 homolog, protein translocation regulator

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:107,867,756...107,958,208
Ensembl chr 6:107,867,756...107,958,208

septin 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624801:6,988,914...7,156,469
Ensembl chrNW_004624801:6,988,904...7,159,072

septin 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr16:44,211,692...44,424,242
Ensembl chr16:44,213,623...44,310,524

septin 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:4,254,771...4,347,526
Ensembl chr12:4,254,775...4,405,628

septin 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936594:2,213,459...2,286,582

septin 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 9:3,495,764...3,571,755
Ensembl chr 9:3,448,793...3,616,732

septin 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr17:71,361,002...71,580,995
Ensembl chr17:76,920,236...77,139,586

septin 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955506:4,943,108...5,033,088
Ensembl chrNW_004955506:4,942,056...5,090,441

septin 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:102,409,798...102,579,056
Ensembl chr10:102,409,711...102,579,055

septin 9

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr11:117,090,487...117,253,151
Ensembl chr11:117,090,487...117,253,151

septin 9

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr17:77,281,499...77,500,596
Ensembl chr17:77,280,569...77,500,596

sestrin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624916:231,168...332,423
Ensembl chrNW_004624916:230,348...332,985

sestrin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:64,756,393...64,864,795
Ensembl chr13:64,841,773...64,863,698

sestrin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:75,056,731...75,170,374
Ensembl chr 1:75,056,734...75,088,954

sestrin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:5,187,152...5,291,201
Ensembl chrNW_004936564:5,187,005...5,291,498

sestrin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:65,958,995...66,057,369
Ensembl chr12:65,960,066...66,057,035

sestrin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:106,789,911...106,896,382
Ensembl chr 6:110,839,631...110,946,276

sestrin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:34,033,986...34,051,171
Ensembl chrNW_004955411:34,032,490...34,139,822

sestrin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:45,294,876...45,387,698
Ensembl chr20:45,294,871...45,387,697

sestrin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:41,686,570...41,784,432
Ensembl chr10:41,685,931...41,784,420

sestrin 1

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:108,984,309...109,094,846
Ensembl chr 6:108,984,309...109,094,846

SH3 domain and tetratricopeptide repeats 2

ISO

PMID:3000192 PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 More...

NCBI chrNW_004624774:8,391,285...8,454,828
Ensembl chrNW_004624774:8,398,925...8,454,774

SH3 domain and tetratricopeptide repeats 2

ISO

PMID:3000192 PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 More...

NCBI chr23:51,615,754...51,677,650

SH3 domain and tetratricopeptide repeats 2

ISO

PMID:3000192 PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 More...

NCBI chr 2:150,183,480...150,247,747
Ensembl chr 2:150,183,485...150,247,637

SH3 domain and tetratricopeptide repeats 2

ISO

PMID:3000192 PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 More...

NCBI chrNW_004936504:5,763,929...5,817,309
Ensembl chrNW_004936504:5,763,984...5,871,143

SH3 domain and tetratricopeptide repeats 2

ISO

PMID:3000192 PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 More...

NCBI chr 4:59,801,240...59,905,759
Ensembl chr 4:59,801,384...59,903,135

SH3 domain and tetratricopeptide repeats 2

ISO

PMID:3000192 PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 More...

NCBI chr 5:144,412,449...144,490,183
Ensembl chr 5:150,438,976...150,498,354

SH3 domain and tetratricopeptide repeats 2

ISO

PMID:3000192 PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 More...

NCBI chrNW_004955415:5,286,475...5,354,880
Ensembl chrNW_004955415:5,303,311...5,355,672

SH3 domain and tetratricopeptide repeats 2

ISO

PMID:3000192 PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 More...

NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083

SH3 domain and tetratricopeptide repeats 2

ISO

PMID:3000192 PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 More...

NCBI chr18:62,086,002...62,148,790
Ensembl chr18:62,086,146...62,157,473

SH3 domain and tetratricopeptide repeats 2

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:3000192 PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 More...

NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163

Src like adaptor

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624735:22,929,467...22,949,471
Ensembl chrNW_004624735:22,892,713...22,950,355

Src like adaptor

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:127,466,230...127,504,344
Ensembl chr 8:127,468,048...127,504,325

Src like adaptor

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 4:8,166,829...8,247,396
Ensembl chr 4:8,189,232...8,247,388

Src like adaptor

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936470:16,232,614...16,264,982
Ensembl chrNW_004936470:16,232,602...16,264,982

Src like adaptor

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:29,503,304...29,590,679
Ensembl chr13:29,504,867...29,569,773

Src like adaptor

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:129,690,546...129,757,660
Ensembl chr 8:132,666,411...132,732,669

Src like adaptor

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955461:7,622,501...7,643,008
Ensembl chrNW_004955461:7,622,501...7,653,782

src-like adaptor

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648

src-like adaptor

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr15:66,652,713...66,703,921
Ensembl chr15:66,652,668...66,703,678

Src like adaptor

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:133,036,728...133,102,602
Ensembl chr 8:133,036,728...133,102,912

sphingomyelin phosphodiesterase 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624916:697,861...701,015
Ensembl chrNW_004624916:697,006...701,012

sphingomyelin phosphodiesterase 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:64,424,236...64,427,435
Ensembl chr13:64,424,250...64,427,366

sphingomyelin phosphodiesterase 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:75,508,303...75,511,572
Ensembl chr 1:75,508,350...75,512,153

sphingomyelin phosphodiesterase 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:5,565,205...5,568,474
Ensembl chrNW_004936564:5,564,784...5,568,956

sphingomyelin phosphodiesterase 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:66,347,628...66,350,322
Ensembl chr12:66,323,022...66,350,322

sphingomyelin phosphodiesterase 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:107,243,751...107,246,941
Ensembl chr 6:111,292,130...111,295,408

sphingomyelin phosphodiesterase 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:34,481,431...34,484,423
Ensembl chrNW_004955411:34,481,823...34,484,406

sphingomyelin phosphodiesterase 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:44,986,229...44,989,343
Ensembl chr20:44,986,231...44,989,441

sphingomyelin phosphodiesterase 2, neutral

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:41,363,168...41,366,410
Ensembl chr10:41,361,638...41,366,365

sphingomyelin phosphodiesterase 2

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:109,440,724...109,443,919
Ensembl chr 6:109,440,724...109,443,919

sorting nexin 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624780:14,043,002...14,080,380
Ensembl chrNW_004624780:14,043,003...14,080,380

sorting nexin 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:65,590,413...65,640,368
Ensembl chr13:65,589,801...65,640,876

sorting nexin 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:74,306,450...74,349,735
Ensembl chr 1:74,306,455...74,349,335

sorting nexin 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:4,472,171...4,520,732
Ensembl chrNW_004936564:4,471,652...4,520,785

sorting nexin 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:65,252,175...65,294,620
Ensembl chr12:65,252,175...65,294,611

sorting nexin 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:106,010,633...106,063,331
Ensembl chr 6:109,874,105...109,924,185

sorting nexin 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:33,339,974...33,344,563
Ensembl chrNW_004955411:33,340,274...33,345,500

sorting nexin 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:45,992,446...46,025,361
Ensembl chr20:45,992,720...46,025,379

sorting nexin 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:42,378,050...42,411,365
Ensembl chr10:42,378,026...42,411,377

sorting nexin 3

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:108,211,222...108,261,040
Ensembl chr 6:108,211,222...108,261,246

sine oculis binding protein homolog

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624780:14,618,283...14,773,190
Ensembl chrNW_004624780:14,616,469...14,773,237

sine oculis binding protein homolog

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:66,202,747...66,374,992
Ensembl chr13:66,227,944...66,374,736

sine oculis binding protein homolog

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:73,549,778...73,722,689
Ensembl chr 1:73,549,307...73,702,020

sine oculis binding protein homolog

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:3,855,526...4,000,809
Ensembl chrNW_004936564:3,855,672...3,982,401

sine oculis binding protein homolog

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:64,653,814...64,794,144
Ensembl chr12:64,664,288...64,794,358

sine oculis binding protein homolog

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:105,302,531...105,472,674
Ensembl chr 6:109,168,069...109,337,549

sine oculis binding protein homolog

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:32,745,029...32,898,570
Ensembl chrNW_004955411:32,745,235...32,881,138

sine oculis binding protein homolog

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:46,482,265...46,661,452
Ensembl chr20:46,482,765...46,663,541

sine oculis binding protein

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:42,878,484...43,059,144
Ensembl chr10:42,878,496...43,050,526

sine oculis binding protein homolog

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:107,490,117...107,661,306
Ensembl chr 6:107,490,106...107,661,306

thyroglobulin

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624735:22,864,373...23,083,457
Ensembl chrNW_004624735:22,862,443...23,083,475

thyroglobulin

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:127,293,797...127,567,218
Ensembl chr 8:127,293,834...127,567,771

thyroglobulin

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 4:8,158,395...8,382,435
Ensembl chr 4:8,158,396...8,382,435

thyroglobulin

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936470:16,185,557...16,396,172

thyroglobulin

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040

thyroglobulin

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918

thyroglobulin

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955461:7,487,268...7,703,458
Ensembl chrNW_004955461:7,487,322...7,703,363

thyroglobulin

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210

thyroglobulin

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr15:66,542,606...66,722,570
Ensembl chr15:66,542,602...66,722,570

thyroglobulin

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903

transmembrane protein 71

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624735:23,171,402...23,265,855

transmembrane protein 71

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:127,136,525...127,186,052
Ensembl chr 8:127,136,414...127,186,051

transmembrane protein 71

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 4:8,467,572...8,516,316
Ensembl chr 4:8,486,002...8,516,295

transmembrane protein 71

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936470:16,490,824...16,528,640
Ensembl chrNW_004936470:16,490,787...16,528,691

transmembrane protein 71

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:29,217,384...29,249,145
Ensembl chr13:29,218,733...29,249,289

transmembrane protein 71

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:129,363,661...129,429,101
Ensembl chr 8:132,339,621...132,388,523

transmembrane protein 71

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955461:7,367,376...7,392,337

transmembrane protein 71

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 7:98,276,975...98,323,161
Ensembl chr 7:98,276,975...98,315,858

transmembrane protein 71

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr15:66,398,061...66,433,085
Ensembl chr15:66,398,061...66,432,952

transmembrane protein 71

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 8:132,705,839...132,775,999
Ensembl chr 8:132,685,007...132,760,712

transient receptor potential cation channel subfamily V member 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624747:10,675,625...10,685,351

transient receptor potential cation channel subfamily V member 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr11:105,020,972...105,072,660

transient receptor potential cation channel subfamily V member 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578

transient receptor potential cation channel subfamily V member 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936769:1,424,526...1,447,547
Ensembl chrNW_004936769:1,424,549...1,447,516

transient receptor potential cation channel subfamily V member 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165

transient receptor potential cation channel subfamily V member 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182

transient receptor potential cation channel subfamily V member 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955455:8,744,865...8,781,644
Ensembl chrNW_004955455:8,744,176...8,783,741

transient receptor potential cation channel, subfamily V, member 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517

transient receptor potential cation channel, subfamily V, member 4

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482

transient receptor potential cation channel subfamily V member 4

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406

WNK lysine deficient protein kinase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chrNW_004624735:8,987,390...9,122,277
Ensembl chrNW_004624735:8,987,469...9,124,516

WNK lysine deficient protein kinase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr11:736,668...893,404
Ensembl chr11:737,590...890,762

WNK lysine deficient protein kinase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr 5:68,000,792...68,142,533
Ensembl chr 5:68,000,905...68,140,755

WNK lysine deficient protein kinase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chrNW_004936606:933,637...1,069,885
Ensembl chrNW_004936606:934,337...1,067,275

WNK lysine deficient protein kinase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr27:42,764,184...42,914,591
Ensembl chr27:42,765,181...42,912,806

WNK lysine deficient protein kinase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr12:825,659...985,016
Ensembl chr12:791,153...944,602

WNK lysine deficient protein kinase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chrNW_004955454:6,228,492...6,358,690
Ensembl chrNW_004955454:6,228,492...6,358,637

WNK lysine deficient protein kinase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905

WNK lysine deficient protein kinase 1

ISO

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr 6:119,900,930...120,015,659
Ensembl chr 6:119,900,930...120,015,633

WNK lysine deficient protein kinase 1

IAGP

ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452

zinc finger and BTB domain containing 24

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004624916:720,119...738,934

zinc finger and BTB domain containing 24

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr13:64,383,306...64,401,148
Ensembl chr13:64,384,519...64,400,875

zinc finger and BTB domain containing 24

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 1:75,531,034...75,548,795
Ensembl chr 1:75,531,036...75,548,772

zinc finger and BTB domain containing 24

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004936564:5,588,360...5,606,140
Ensembl chrNW_004936564:5,587,560...5,606,189

zinc finger and BTB domain containing 24

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr12:66,368,160...66,380,631
Ensembl chr12:66,369,083...66,380,759

zinc finger and BTB domain containing 24

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:107,265,762...107,286,397
Ensembl chr 6:111,314,134...111,334,674

zinc finger and BTB domain containing 24

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chrNW_004955411:34,502,355...34,521,196
Ensembl chrNW_004955411:34,503,812...34,521,196

zinc finger and BTB domain containing 24

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr20:44,943,302...44,965,329
Ensembl chr20:44,947,297...44,963,963

zinc finger and BTB domain containing 24

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr10:41,326,354...41,341,578
Ensembl chr10:41,326,379...41,341,570

zinc finger and BTB domain containing 24

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4

NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239

autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ganglioside induced differentiation associated protein 1

ISO

ClinVar Annotator: match by term: CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive

PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More...

NCBI chrNW_004624744:16,859,946...16,878,723
Ensembl chrNW_004624744:16,859,700...16,879,057

ganglioside induced differentiation associated protein 1

ISO

PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More...

NCBI chr 8:69,948,800...69,965,168
Ensembl chr 8:69,949,052...69,966,421

ganglioside induced differentiation associated protein 1

ISO

PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More...

NCBI chr 4:61,577,413...61,596,106
Ensembl chr 4:61,577,112...61,596,049

ganglioside induced differentiation associated protein 1

ISO

PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More...

NCBI chrNW_004936648:2,981,802...2,999,161
Ensembl chrNW_004936648:2,981,546...3,014,430

ganglioside induced differentiation associated protein 1

ISO

PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More...

NCBI chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069

ganglioside induced differentiation associated protein 1

ISO

PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More...

NCBI chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346

ganglioside induced differentiation associated protein 1

ISO

PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More...

NCBI chrNW_004955444:6,053,422...6,069,741
Ensembl chrNW_004955444:6,051,301...6,069,765

ganglioside-induced differentiation-associated-protein 1

ISO

PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More...

NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061

ganglioside-induced differentiation-associated-protein 1

ISO

PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More...

NCBI chr 1:17,202,028...17,234,513
Ensembl chr 1:17,215,586...17,234,495

ganglioside induced differentiation associated protein 1

IAGP

ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive
ClinVar Annotator: match by term: CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form

ClinVar
OMIM

PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More...

NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007

LOC130000622

ATAC-STARR-seq lymphoblastoid active region 27542

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive

NCBI chr 8:74,350,416...74,350,645

leucine rich repeat and sterile alpha motif containing 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624760:7,997,803...8,044,758
Ensembl chrNW_004624760:7,998,107...8,032,972

leucine rich repeat and sterile alpha motif containing 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:10,623,118...10,677,002
Ensembl chr12:10,622,893...10,676,553

leucine rich repeat and sterile alpha motif containing 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:267,964,875...268,008,833
Ensembl chr 1:267,964,928...268,008,825

leucine rich repeat and sterile alpha motif containing 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936487:15,181,009...15,217,952
Ensembl chrNW_004936487:15,180,811...15,217,406

leucine rich repeat and sterile alpha motif containing 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:55,855,576...55,894,915
Ensembl chr 9:55,856,091...55,894,488

leucine rich repeat and sterile alpha motif containing 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:98,571,796...98,623,581
Ensembl chr 9:127,245,508...127,297,645

leucine rich repeat and sterile alpha motif containing 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955419:1,121,127...1,154,356
Ensembl chrNW_004955419:1,121,127...1,154,356

leucine rich repeat and sterile alpha motif containing 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:36,621,042...36,661,932
Ensembl chr 3:16,223,367...16,264,154

leucine rich repeat and sterile alpha motif containing 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:32,815,227...32,851,666
Ensembl chr 2:32,815,228...32,851,626

leucine rich repeat and sterile alpha motif containing 1

EXP

CTD Direct Evidence: marker/mechanism

NCBI chr 9:127,451,486...127,503,501
Ensembl chr 9:127,451,489...127,503,499

Charcot-Marie-Tooth disease type 4A

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

BICD cargo adaptor 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A

PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954

NCBI chrNW_004624868:3,598,523...3,649,641
Ensembl chrNW_004624868:3,598,688...3,650,731

BICD cargo adaptor 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A

PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954

NCBI chr12:103,232,602...103,281,317
Ensembl chr12:103,232,327...103,281,288

BICD cargo adaptor 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A

PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954

NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782

BICD cargo adaptor 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A

PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954

NCBI chrNW_004936487:2,287,736...2,335,674
Ensembl chrNW_004936487:2,255,882...2,335,731

BICD cargo adaptor 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A

PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954

NCBI chr 1:98,697,050...98,736,296
Ensembl chr 1:98,697,075...98,734,240

BICD cargo adaptor 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A

PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954

NCBI chr 9:63,834,515...63,890,904
Ensembl chr 9:91,909,771...91,959,131

BICD cargo adaptor 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A

PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954

NCBI chrNW_004955515:5,060,176...5,105,298
Ensembl chrNW_004955515:5,061,005...5,103,179

BICD cargo adaptor 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A

PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954

NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889

BICD cargo adaptor 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A

PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954

NCBI chr13:49,495,025...49,540,502
Ensembl chr13:49,495,061...49,540,502

BICD cargo adaptor 2

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A

PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954

NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833

ganglioside induced differentiation associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More...

NCBI chrNW_004624744:16,859,946...16,878,723
Ensembl chrNW_004624744:16,859,700...16,879,057

ganglioside induced differentiation associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More...

NCBI chr 8:69,948,800...69,965,168
Ensembl chr 8:69,949,052...69,966,421

ganglioside induced differentiation associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More...

NCBI chr 4:61,577,413...61,596,106
Ensembl chr 4:61,577,112...61,596,049

ganglioside induced differentiation associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More...

NCBI chrNW_004936648:2,981,802...2,999,161
Ensembl chrNW_004936648:2,981,546...3,014,430

ganglioside induced differentiation associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More...

NCBI chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069

ganglioside induced differentiation associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More...

NCBI chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346

ganglioside induced differentiation associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More...

NCBI chrNW_004955444:6,053,422...6,069,741
Ensembl chrNW_004955444:6,051,301...6,069,765

RGD:12738393, RGD:12738391

ganglioside-induced differentiation-associated-protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, frameshift mutation:cds:p.Q163X, p.S194X, p.T288fsX290 (human)
DNA:nonsense mutations, missense mutation:cds:p.W31X, p.S194X, p.R161H (human)

OMIM
ClinVar
CTD
RGD

PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More...

NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061

RGD:12738393, RGD:12738391

ganglioside-induced differentiation-associated-protein 1

ISO

OMIM
ClinVar
CTD
RGD

PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More...

NCBI chr 1:17,202,028...17,234,513
Ensembl chr 1:17,215,586...17,234,495

RGD:1358634, RGD:12738393, RGD:12738391

ganglioside induced differentiation associated protein 1

IAGP
EXP

DNA:nonsense mutation, deletion, missense mutation:exons:p.S194X, c.786delg, p.G262fsX284 (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, frameshift mutation:cds:p.Q163X, p.S194X, p.T288fsX290 (human)
DNA:nonsense mutations, missense mutation:cds:p.W31X, p.S194X, p.R161H (human)

ClinVar
CTD
OMIM
RGD

PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More...

NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007

junctophilin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chrNW_004624744:16,937,138...17,013,765
Ensembl chrNW_004624744:16,937,092...17,013,862

junctophilin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:69,839,696...69,919,915
Ensembl chr 8:69,839,460...69,919,950

junctophilin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 4:61,628,304...61,716,550
Ensembl chr 4:61,628,299...61,716,544

junctophilin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chrNW_004936648:2,868,419...2,956,370

junctophilin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr29:22,701,531...22,785,712
Ensembl chr29:22,703,647...22,785,415

junctophilin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:70,768,560...70,855,068
Ensembl chr 8:72,413,794...72,505,309

junctophilin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chrNW_004955444:6,108,312...6,176,430
Ensembl chrNW_004955444:6,108,312...6,176,814

junctophilin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 5:2,030,227...2,137,171
Ensembl chr 5:2,030,281...2,125,284

junctophilin 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 1:17,012,328...17,168,132
Ensembl chr 1:17,034,784...17,168,113

junctophilin 1

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:74,234,700...74,321,540
Ensembl chr 8:74,234,700...74,321,540

LOC126860420

CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:75193255-75194454

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:74,281,020...74,282,219

LOC129390012

MPRA-validated peak7074 silencer

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:74,251,341...74,251,541

LOC130000614

ATAC-STARR-seq lymphoblastoid silent region 19297

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:73,976,494...73,976,543

LOC130000615

ATAC-STARR-seq lymphoblastoid active region 27538

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:73,991,634...73,991,733

LOC130000616

ATAC-STARR-seq lymphoblastoid active region 27539

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:73,992,104...73,992,173

LOC130000617

ATAC-STARR-seq lymphoblastoid active region 27540

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:74,048,447...74,048,586

LOC130000618

ATAC-STARR-seq lymphoblastoid silent region 19298

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:74,053,519...74,053,568

LOC130000619

ATAC-STARR-seq lymphoblastoid active region 27541

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:74,209,126...74,209,235

LOC130000620

ATAC-STARR-seq lymphoblastoid silent region 19299

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:74,295,758...74,295,897

LOC130000621

ATAC-STARR-seq lymphoblastoid silent region 19300

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:74,321,591...74,321,690

LOC130000622

ATAC-STARR-seq lymphoblastoid active region 27542

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

PMID:9536098 PMID:11743579 PMID:11743580 PMID:16199547 PMID:17576681 More...

NCBI chr 8:74,350,416...74,350,645

lymphocyte antigen 96

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chrNW_004624744:17,209,285...17,241,347
Ensembl chrNW_004624744:17,208,990...17,241,347

lymphocyte antigen 96

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:69,591,885...69,629,939
Ensembl chr 8:69,591,941...69,630,274

lymphocyte antigen 96

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 4:61,919,806...61,950,712
Ensembl chr 4:61,926,064...61,950,697

lymphocyte antigen 96

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chrNW_004936648:2,653,252...2,671,453

lymphocyte antigen 96

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr29:22,493,757...22,515,147
Ensembl chr29:22,493,896...22,515,117

lymphocyte antigen 96

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:70,525,058...70,567,839
Ensembl chr 8:72,169,986...72,207,372

lymphocyte antigen 96

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chrNW_004955444:6,356,121...6,387,350
Ensembl chrNW_004955444:6,356,154...6,387,529

lymphocyte antigen 96

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386

lymphocyte antigen 96

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 1:16,758,680...16,779,829
Ensembl chr 1:16,758,275...16,779,835

lymphocyte antigen 96

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:73,991,392...74,099,857
Ensembl chr 8:73,991,392...74,029,079

transmembrane protein 70

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chrNW_004624744:17,256,749...17,265,507
Ensembl chrNW_004624744:17,259,245...17,266,115

transmembrane protein 70

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:69,576,786...69,582,478
Ensembl chr 8:69,576,808...69,583,308

transmembrane protein 70

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 4:61,958,605...61,966,041
Ensembl chr 4:61,958,605...61,966,024

transmembrane protein 70

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chrNW_004936648:2,636,667...2,650,311

transmembrane protein 70

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr29:22,475,961...22,487,920
Ensembl chr29:22,478,941...22,487,741

transmembrane protein 70

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:70,509,897...70,515,605
Ensembl chr 8:72,154,872...72,163,239

transmembrane protein 70

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chrNW_004955444:6,393,023...6,397,115

transmembrane protein 70

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729

transmembrane protein 70

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 1:16,735,415...16,748,501
Ensembl chr 1:16,735,431...16,748,499

transmembrane protein 70

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A

NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783

Charcot-Marie-Tooth disease type 4B1

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

myotubularin related protein 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1

PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:16199547 More...

NCBI chrNW_004624735:40,673,156...40,770,693

myotubularin related protein 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1

PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:16199547 More...

NCBI chr 1:87,090,401...87,181,057
Ensembl chr 1:87,087,191...87,180,497

myotubularin related protein 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1

PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:16199547 More...

NCBI chr 9:27,864,335...27,974,448
Ensembl chr 9:27,854,491...27,974,423

myotubularin related protein 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1

PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:16199547 More...

NCBI chrNW_004936700:1,790,592...1,873,019
Ensembl chrNW_004936700:1,790,064...1,873,034

myotubularin related protein 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1

PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:16199547 More...

NCBI chr21:5,194,772...5,316,441
Ensembl chr21:5,194,604...5,315,375

myotubularin related protein 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1

PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:16199547 More...

NCBI chr11:90,839,577...90,929,731
Ensembl chr11:94,367,038...94,457,138

myotubularin related protein 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1

PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:16199547 More...

NCBI chrNW_004955412:693,743...764,377
Ensembl chrNW_004955412:693,743...750,154

myotubularin related protein 2

ISO
ISS

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1
OMIM:601382
CTD Direct Evidence: marker/mechanism

PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:16199547 More...

NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172

myotubularin related protein 2

ISO
IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1
CTD Direct Evidence: marker/mechanism
OMIM:601382

PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:16199547 More...

NCBI chr 9:13,660,397...13,720,192
Ensembl chr 9:13,659,706...13,717,777

myotubularin related protein 2

IAGP
ISS
EXP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1
OMIM:601382
CTD Direct Evidence: marker/mechanism

PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:16199547 More...

NCBI chr11:95,832,880...95,924,107
Ensembl chr11:95,821,766...95,925,315

Charcot-Marie-Tooth disease type 4B2

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AC011092.2

novel transcript

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2

PMID:9536098 PMID:12687498 PMID:17576681 PMID:22730194 PMID:25741868 More...

NCBI chr11:9,839,142...9,929,263
Ensembl chr11:9,839,143...9,929,263

LOC105369149

uncharacterized LOC105369149

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2

PMID:25741868 PMID:26392352 PMID:26467025 PMID:27582484 PMID:28492532 More...

NCBI chr11:9,780,547...9,791,244

LOC130005303

ATAC-STARR-seq lymphoblastoid silent region 3141

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2

NCBI chr11:10,293,907...10,294,186

SET binding factor 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2

PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More...

NCBI chrNW_004624766:1,907,531...2,384,055
Ensembl chrNW_004624766:1,909,101...2,383,924

SET binding factor 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2

PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More...

NCBI chr 1:54,531,651...55,048,599
Ensembl chr 1:54,531,689...55,048,986

SET binding factor 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2

PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More...

NCBI chr 2:49,242,739...49,691,807
Ensembl chr 2:49,242,734...49,698,478

SET binding factor 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2

PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More...

NCBI chrNW_004936528:8,080,563...8,418,703
Ensembl chrNW_004936528:8,188,654...8,417,101

SET binding factor 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2

PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More...

NCBI chr21:33,005,921...33,461,258
Ensembl chr21:33,007,380...33,461,115

SET binding factor 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2

PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More...

NCBI chr11:9,910,020...10,426,842
Ensembl chr11:9,641,471...10,154,501

SET binding factor 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2

PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More...

NCBI chrNW_004955414:25,463,962...25,845,368
Ensembl chrNW_004955414:25,465,560...25,845,369

SET binding factor 2

ISO
ISS

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2
OMIM:604563
CTD Direct Evidence: marker/mechanism

PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More...

NCBI chr 1:164,352,892...164,719,883
Ensembl chr 1:164,353,444...164,719,807

SET binding factor 2

ISO
IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2
CTD Direct Evidence: marker/mechanism
OMIM:604563

PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More...

NCBI chr 7:109,907,218...110,215,150
Ensembl chr 7:109,907,220...110,214,129

SET binding factor 2

IAGP
ISS
EXP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2
OMIM:604563
CTD Direct Evidence: marker/mechanism

PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More...

NCBI chr11:9,778,668...10,304,841
Ensembl chr11:9,776,776...10,304,877

SBF2-AS1

SBF2 antisense RNA 1

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2

PMID:9521281 PMID:15477569 PMID:25741868 PMID:26392352 PMID:26467025 More...

NCBI chr11:9,758,293...9,811,319
Ensembl chr11:9,758,267...9,811,335

Charcot-Marie-Tooth disease type 4B3

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LOC126863186

MED14-independent group 3 enhancer GRCh37_chr22:50844619-50845818

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3

NCBI chr22:50,406,190...50,407,389

protein phosphatase 6 regulatory subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3

NCBI chrNW_004624752:331,301...434,191
Ensembl chrNW_004624752:332,145...411,391

protein phosphatase 6 regulatory subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3

NCBI chr19:32,824,732...32,917,356
Ensembl chr19:32,866,039...32,916,534

protein phosphatase 6 regulatory subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3

NCBI chr 5:285,381...361,309
Ensembl chr 5:285,386...361,548

protein phosphatase 6 regulatory subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3

NCBI chrNW_004936629:394,535...462,710
Ensembl chrNW_004936629:395,419...435,453

protein phosphatase 6 regulatory subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3

NCBI chr10:16,846,250...16,929,855
Ensembl chr10:16,846,899...16,929,884

protein phosphatase 6 regulatory subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3

NCBI chr22:30,572,446...30,690,242
Ensembl chr22:49,600,643...49,674,482

protein phosphatase 6 regulatory subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3

NCBI chrNW_004955413:33,362,879...33,425,361
Ensembl chrNW_004955413:33,385,084...33,425,226

protein phosphatase 6, regulatory subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3

NCBI chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395

protein phosphatase 6, regulatory subunit 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3

NCBI chr15:89,095,654...89,171,218
Ensembl chr15:89,095,756...89,171,213

protein phosphatase 6 regulatory subunit 2

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3

NCBI chr22:50,330,774...50,445,090
Ensembl chr22:50,343,304...50,445,090

SET binding factor 1

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B3 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 | ClinVar Annotator: match by term: SBF1-related condition

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21210780 PMID:23749797 More...

NCBI chrNW_004624752:302,589...329,974
Ensembl chrNW_004624752:302,557...329,974

SET binding factor 1

ISO

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21210780 PMID:23749797 More...

NCBI chr19:32,919,029...32,945,333
Ensembl chr19:32,919,341...32,938,690

SET binding factor 1

ISO

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21210780 PMID:23749797 More...

NCBI chr 5:260,779...284,512
Ensembl chr 5:260,935...284,509

SET binding factor 1

ISO

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21210780 PMID:23749797 More...

NCBI chrNW_004936629:367,253...393,355
Ensembl chrNW_004936629:367,226...393,352

SET binding factor 1

ISO

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21210780 PMID:23749797 More...

NCBI chr10:16,823,456...16,845,800
Ensembl chr10:16,828,599...16,845,789

SET binding factor 1

ISO

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21210780 PMID:23749797 More...

NCBI chr22:30,691,976...30,723,128
Ensembl chr22:49,676,467...49,704,633

SET binding factor 1

ISO

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21210780 PMID:23749797 More...

NCBI chrNW_004955413:33,427,283...33,450,581
Ensembl chrNW_004955413:33,427,214...33,452,415

SET binding factor 1

ISO
ISS

OMIM
ClinVar
MouseDO

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21210780 PMID:23749797 More...

NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902

SET binding factor 1

ISO
IAGP

OMIM
ClinVar
MouseDO

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21210780 PMID:23749797 More...

NCBI chr15:89,171,138...89,199,514
Ensembl chr15:89,172,439...89,199,514

SET binding factor 1

IAGP
ISS

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B3 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 | ClinVar Annotator: match by term: SBF1-related condition
OMIM:615284

ClinVar
MouseDO
OMIM

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21210780 PMID:23749797 More...

NCBI chr22:50,445,000...50,475,035
Ensembl chr22:50,443,219...50,483,923

Charcot-Marie-Tooth disease type 4C

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LOC114004390

Sharpr-MPRA regulatory region 10809

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C

NCBI chr 5:149,063,026...149,063,320

LOC126807546

P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:148363540-148364739

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C

NCBI chr 5:148,983,977...148,985,176

SH3 domain and tetratricopeptide repeats 2

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C | ClinVar Annotator: match by term: CMT 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C | ClinVar Annotator: match by term: SH3TC2-related disorder

PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 More...

NCBI chrNW_004624774:8,391,285...8,454,828
Ensembl chrNW_004624774:8,398,925...8,454,774

SH3 domain and tetratricopeptide repeats 2

ISO

PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 More...

NCBI chr23:51,615,754...51,677,650

SH3 domain and tetratricopeptide repeats 2

ISO

PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 More...

NCBI chr 2:150,183,480...150,247,747
Ensembl chr 2:150,183,485...150,247,637

SH3 domain and tetratricopeptide repeats 2

ISO

PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 More...

NCBI chrNW_004936504:5,763,929...5,817,309
Ensembl chrNW_004936504:5,763,984...5,871,143

SH3 domain and tetratricopeptide repeats 2

ISO

PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 More...

NCBI chr 4:59,801,240...59,905,759
Ensembl chr 4:59,801,384...59,903,135

SH3 domain and tetratricopeptide repeats 2

ISO

PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 More...

NCBI chr 5:144,412,449...144,490,183
Ensembl chr 5:150,438,976...150,498,354

SH3 domain and tetratricopeptide repeats 2

ISO

PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 More...

NCBI chrNW_004955415:5,286,475...5,354,880
Ensembl chrNW_004955415:5,303,311...5,355,672

SH3 domain and tetratricopeptide repeats 2

ISO
ISS

PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 More...

NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083

SH3 domain and tetratricopeptide repeats 2

ISO
IAGP

PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 More...

NCBI chr18:62,086,002...62,148,790
Ensembl chr18:62,086,146...62,157,473

SH3 domain and tetratricopeptide repeats 2

IAGP
ISS
EXP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C | ClinVar Annotator: match by term: SH3TC2-related disorder
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C | ClinVar Annotator: match by term: CMT 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C | ClinVar Annotator: match by term: SH3TC2-related disorder
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C | ClinVar Annotator: match by term: SH3TC2-related disorder
OMIM:601596
CTD Direct Evidence: marker/mechanism

PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 More...

NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163

Charcot-Marie-Tooth disease type 4D

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LOC126860531

CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:134259869-134261068

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D

PMID:9536098 PMID:12872253 PMID:16199547 PMID:17576681 PMID:23996628 More...

NCBI chr 8:133,247,626...133,248,825

LOC130001212

ATAC-STARR-seq lymphoblastoid silent region 19561

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D

PMID:24136616

NCBI chr 8:133,256,947...133,257,036

LOC130001213

ATAC-STARR-seq lymphoblastoid silent region 19562

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D

NCBI chr 8:133,297,133...133,297,582

N-myc downstream regulated 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chrNW_004624735:22,734,365...22,782,247
Ensembl chrNW_004624735:22,734,228...22,782,347

N-myc downstream regulated 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chr 8:127,668,012...127,727,918
Ensembl chr 8:127,667,981...127,719,011

N-myc downstream regulated 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,335

N-myc downstream regulated 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chrNW_004936470:16,051,291...16,102,563
Ensembl chrNW_004936470:16,051,015...16,102,585

N-myc downstream regulated 1

ISO
IAGP

Polyneuropathy, NDRG1-related
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D

OMIM
OMIA
ClinVar

PMID:9298480 PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 More...

NCBI chr13:29,689,294...29,745,964
Ensembl chr13:29,650,444...29,746,382

N-myc downstream regulated 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514

N-myc downstream regulated 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chrNW_004955461:7,787,068...7,836,380
Ensembl chrNW_004955461:7,786,850...7,836,922

N-myc downstream regulated 1

ISO
ISS

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D
OMIM:601455
CTD Direct Evidence: marker/mechanism

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chr 7:100,573,526...100,614,902
Ensembl chr 7:98,684,487...98,725,880

N-myc downstream regulated gene 1

IAGP
ISO

OMIM:601455
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D
CTD Direct Evidence: marker/mechanism

MouseDO
ClinVar
CTD
OMIM

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489

N-myc downstream regulated 1

IAGP
ISS
EXP

PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More...

NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022

Charcot-Marie-Tooth disease type 4E

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

contactin associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E

NCBI chrNW_004624795:1,470,234...1,482,066
Ensembl chrNW_004624795:1,470,760...1,481,973

contactin associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E

NCBI chr16:63,590,043...63,606,805
Ensembl chr16:63,591,119...63,607,579

contactin associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E

NCBI chr12:20,141,222...20,157,341
Ensembl chr12:20,141,641...20,157,044

contactin associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E

NCBI chrNW_004936490:17,412,837...17,430,123
Ensembl chrNW_004936490:17,412,878...17,429,041

contactin associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E

NCBI chr 9:20,293,184...20,307,708
Ensembl chr 9:20,293,170...20,307,662

contactin associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E

NCBI chr17:14,618,294...14,635,193
Ensembl chr17:14,842,577...14,858,896

contactin associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E

NCBI chrNW_004955451:16,535,924...16,547,800
Ensembl chrNW_004955451:16,536,416...16,547,213

contactin associated protein 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E

NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611

contactin associated protein-like 1

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E

NCBI chr11:101,065,429...101,081,550
Ensembl chr11:101,061,349...101,081,550

contactin associated protein 1

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E

NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993

early growth response 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E

PMID:9537424 PMID:10369870 PMID:12736090 PMID:17717711 PMID:20301384 More...

NCBI chrNW_004624791:953,009...959,656
Ensembl chrNW_004624791:955,161...959,791

early growth response 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E

PMID:9537424 PMID:10369870 PMID:12736090 PMID:17717711 PMID:20301384 More...

NCBI chr 9:68,472,640...68,479,612
Ensembl chr 9:68,475,102...68,479,595

early growth response 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E

PMID:9537424 PMID:10369870 PMID:12736090 PMID:17717711 PMID:20301384 More...

NCBI chr14:66,280,665...66,291,308
Ensembl chr14:66,284,581...66,291,299

early growth response 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E

PMID:9537424 PMID:10369870 PMID:12736090 PMID:17717711 PMID:20301384 More...

NCBI chrNW_004936753:1,958,250...1,962,640
Ensembl chrNW_004936753:1,958,264...1,962,640

early growth response 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E

PMID:9537424 PMID:10369870 PMID:12736090 PMID:17717711 PMID:20301384 More...

NCBI chr 4:14,705,384...14,810,130
Ensembl chr 4:14,706,600...14,709,497

early growth response 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E

PMID:9537424 PMID:10369870 PMID:12736090 PMID:17717711 PMID:20301384 More...

NCBI chr10:59,320,073...59,326,869
Ensembl chr10:61,648,364...61,652,846

early growth response 2

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E

PMID:9537424 PMID:10369870 PMID:12736090 PMID:17717711 PMID:20301384 More...

NCBI chrNW_004955425:16,055,748...16,068,429
Ensembl chrNW_004955425:16,055,748...16,060,048

early growth response 2

ISO
ISS

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E
OMIM:605253
CTD Direct Evidence: marker/mechanism

PMID:9537424 PMID:10369870 PMID:12736090 PMID:17717711 PMID:20301384 More...

NCBI chr20:21,050,149...21,055,201
Ensembl chr20:21,051,277...21,055,562

early growth response 2

ISO
IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E
CTD Direct Evidence: marker/mechanism
OMIM:605253

PMID:9537424 PMID:10369870 PMID:12736090 PMID:17717711 PMID:20301384 More...

NCBI chr10:67,370,334...67,383,354
Ensembl chr10:67,371,305...67,378,018

early growth response 2

IAGP
ISS
EXP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E
OMIM:605253
CTD Direct Evidence: marker/mechanism

PMID:9537424 PMID:10369870 PMID:12736090 PMID:17717711 PMID:20301384 More...

NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,819,167

myelin protein zero

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:7527371 PMID:10737979 PMID:12805115 PMID:12807974 PMID:12845552 More...

NCBI chrNW_004624794:101,095...106,508
Ensembl chrNW_004624794:100,824...106,444

myelin protein zero

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:7527371 PMID:10737979 PMID:12805115 PMID:12807974 PMID:12845552 More...

NCBI chr20:2,662,163...2,668,393
Ensembl chr20:2,665,737...2,668,393

myelin protein zero

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:7527371 PMID:10737979 PMID:12805115 PMID:12807974 PMID:12845552 More...

NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925

myelin protein zero

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:7527371 PMID:10737979 PMID:12805115 PMID:12807974 PMID:12845552 More...

NCBI chrNW_004936903:583,942...589,160
Ensembl chrNW_004936903:583,942...589,160

myelin protein zero

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:7527371 PMID:10737979 PMID:12805115 PMID:12807974 PMID:12845552 More...

NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451

myelin protein zero

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:7527371 PMID:10737979 PMID:12805115 PMID:12807974 PMID:12845552 More...

NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273

myelin protein zero

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:7527371 PMID:10737979 PMID:12805115 PMID:12807974 PMID:12845552 More...

NCBI chrNW_004955468:13,041,911...13,047,026
Ensembl chrNW_004955468:13,041,011...13,047,284

myelin protein zero

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:7527371 PMID:10737979 PMID:12805115 PMID:12807974 PMID:12845552 More...

NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679

myelin protein zero

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:7527371 PMID:10737979 PMID:12805115 PMID:12807974 PMID:12845552 More...

NCBI chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699

myelin protein zero

IAGP

ClinVar Annotator: match by term: Hypomyelination, severe congenital
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:7527371 PMID:10737979 PMID:12805115 PMID:12807974 PMID:12845552 More...

NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968

succinate dehydrogenase complex subunit C

ISO

ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More...

NCBI chrNW_004624794:55,907...97,991
Ensembl chrNW_004624794:54,143...98,292

succinate dehydrogenase complex subunit C

ISO

ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More...

NCBI chr20:2,613,618...2,658,374

succinate dehydrogenase complex subunit C

ISO

ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More...

NCBI chr 4:89,135,410...89,169,164
Ensembl chr 4:89,130,379...89,169,118

succinate dehydrogenase complex subunit C

ISO

ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More...

NCBI chrNW_004936903:592,641...636,845
Ensembl chrNW_004936903:601,355...636,092

succinate dehydrogenase complex subunit C

ISO

ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More...

NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333

succinate dehydrogenase complex subunit C

ISO

ClinVar Annotator: match by term: Hypomyelination, severe congenital

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

succinate dehydrogenase complex subunit C

ISO

ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More...

NCBI chrNW_004955468:13,050,359...13,083,932
Ensembl chrNW_004955468:13,049,848...13,083,156

succinate dehydrogenase complex subunit C

ISO

ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More...

NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253

succinate dehydrogenase complex, subunit C, integral membrane protein

ISO

ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More...

NCBI chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172

succinate dehydrogenase complex subunit C

IAGP

ClinVar Annotator: match by term: Hypomyelination, severe congenital

PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More...

NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206

Charcot-Marie-Tooth disease type 4F

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LOC130064454

ATAC-STARR-seq lymphoblastoid active region 14650

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4F
ClinVar Annotator: match by term: PRX-related condition

PMID:25164601 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr19:40,403,730...40,403,949

LOC130064456

ATAC-STARR-seq lymphoblastoid active region 14651

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4F

NCBI chr19:40,408,130...40,408,259

phospholipase D family member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F

NCBI chrNW_004624925:361,306...382,172
Ensembl chrNW_004624925:361,418...382,172

phospholipase D family member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F

NCBI chr 6:34,804,574...34,833,975
Ensembl chr 6:34,804,500...34,836,333

phospholipase D family member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F

NCBI chr 6:48,645,347...48,667,394
Ensembl chr 6:48,645,417...48,669,430

phospholipase D family member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F

NCBI chrNW_004936661:2,741,523...2,763,945
Ensembl chrNW_004936661:2,741,234...2,767,121

phospholipase D family member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F

NCBI chr 1:113,305,146...113,322,705
Ensembl chr 1:113,305,445...113,312,632

phospholipase D family member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F

NCBI chr19:37,396,475...37,426,425
Ensembl chr19:45,910,035...45,939,343

phospholipase D family member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F

NCBI chrNW_004955578:884,700...905,426
Ensembl chrNW_004955578:884,700...894,433

phospholipase D family, member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F

NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072

phospholipase D family member 3

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F

NCBI chr 7:27,231,090...27,252,511
Ensembl chr 7:27,231,425...27,252,643

phospholipase D family member 3

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F

NCBI chr19:40,348,695...40,378,485
Ensembl chr19:40,348,456...40,389,472

periaxin

ISO

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F | ClinVar Annotator: match by term: PRX-related condition

PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More...

NCBI chrNW_004624925:393,285...407,817

periaxin

ISO

PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More...

NCBI chr 6:34,851,977...34,870,413
Ensembl chr 6:34,851,979...34,864,967

periaxin

ISO

PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More...

NCBI chr 6:48,675,230...48,691,760
Ensembl chr 6:48,675,418...48,685,851

periaxin

ISO

PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More...

NCBI chrNW_004936661:2,772,446...2,783,120
Ensembl chrNW_004936661:2,772,621...2,787,647

periaxin

ISO

PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More...

NCBI chr 1:113,279,940...113,294,042

periaxin

ISO

PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More...

NCBI chr19:37,442,299...37,461,844
Ensembl chr19:45,952,420...45,971,987

periaxin

ISO

PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More...

NCBI chrNW_004955578:852,789...873,319
Ensembl chrNW_004955578:868,534...874,168

periaxin

ISO

PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More...

NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407

periaxin

ISO

PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More...

NCBI chr 7:27,198,730...27,219,466
Ensembl chr 7:27,196,813...27,219,639

periaxin

IAGP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4F
ClinVar Annotator: match by term: PRX-related condition
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4F | ClinVar Annotator: match by term: PRX-related condition
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F | ClinVar Annotator: match by term: PRX-related condition

PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More...

NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793

Charcot-Marie-Tooth disease type 4G

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

hexokinase 1

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4G | ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, Russe type

PMID:9536098 PMID:10915613 PMID:11601496 PMID:17576681 PMID:19536174 More...

NCBI chrNW_004624754:3,594,478...3,656,231
Ensembl chrNW_004624754:3,591,090...3,659,760

hexokinase 1

ISO

PMID:9536098 PMID:10915613 PMID:11601496 PMID:17576681 PMID:19536174 More...

NCBI chr 9:61,917,501...62,029,737
Ensembl chr 9:61,917,440...62,001,843

hexokinase 1

ISO

PMID:9536098 PMID:10915613 PMID:11601496 PMID:17576681 PMID:19536174 More...

NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,246...72,460,924

hexokinase 1

ISO

PMID:9536098 PMID:10915613 PMID:11601496 PMID:17576681 PMID:19536174 More...

NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793

hexokinase 1

ISO

PMID:9536098 PMID:10915613 PMID:11601496 PMID:17576681 PMID:19536174 More...

NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211

hexokinase 1

ISO

PMID:9536098 PMID:10915613 PMID:11601496 PMID:17576681 PMID:19536174 More...

NCBI chr10:65,786,940...65,870,204
Ensembl chr10:68,289,288...68,401,045

hexokinase 1

ISO

PMID:9536098 PMID:10915613 PMID:11601496 PMID:17576681 PMID:19536174 More...

NCBI chrNW_004955437:21,733,314...21,824,303
Ensembl chrNW_004955437:21,731,584...21,816,324

hexokinase 1

ISO

OMIM
ClinVar
CTD

PMID:9536098 PMID:10915613 PMID:11601496 PMID:17576681 PMID:19536174 More...

NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131

hexokinase 1

ISO

OMIM
ClinVar
CTD

PMID:9536098 PMID:10915613 PMID:11601496 PMID:17576681 PMID:19536174 More...

NCBI chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687

hexokinase 1

IAGP
EXP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4G
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4G | ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, Russe type
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM

PMID:9536098 PMID:10915613 PMID:11601496 PMID:17576681 PMID:19536174 More...

NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884

Charcot-Marie-Tooth disease type 4H

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FYVE, RhoGEF and PH domain containing 4

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4H | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4H | ClinVar Annotator: match by term: FGD4-related condition

PMID:9536098 PMID:15744041 PMID:17564959 PMID:17564972 PMID:17576681 More...

NCBI chrNW_004624778:3,509,546...3,743,213
Ensembl chrNW_004624778:3,498,436...3,743,312

FYVE, RhoGEF and PH domain containing 4

ISO

PMID:9536098 PMID:15744041 PMID:17564959 PMID:17564972 PMID:17576681 More...

NCBI chr11:31,831,051...32,080,267

FYVE, RhoGEF and PH domain containing 4

ISO

PMID:9536098 PMID:15744041 PMID:17564959 PMID:17564972 PMID:17576681 More...

NCBI chr 5:41,683,265...41,879,197
Ensembl chr 5:41,680,452...41,879,062

FYVE, RhoGEF and PH domain containing 4

ISO

PMID:9536098 PMID:15744041 PMID:17564959 PMID:17564972 PMID:17576681 More...

NCBI chrNW_004936607:3,675,217...3,796,329
Ensembl chrNW_004936607:3,679,887...3,877,470

FYVE, RhoGEF and PH domain containing 4

ISO

PMID:9536098 PMID:15744041 PMID:17564959 PMID:17564972 PMID:17576681 More...

NCBI chr27:16,252,405...16,464,099
Ensembl chr27:16,254,542...16,464,112

FYVE, RhoGEF and PH domain containing 4

ISO

PMID:9536098 PMID:15744041 PMID:17564959 PMID:17564972 PMID:17576681 More...

NCBI chr12:53,574,573...53,822,971
Ensembl chr12:56,181,565...56,421,810

FYVE, RhoGEF and PH domain containing 4

ISO

PMID:9536098 PMID:15744041 PMID:17564959 PMID:17564972 PMID:17576681 More...

NCBI chrNW_004955505:3,108,131...3,314,040
Ensembl chrNW_004955505:3,099,672...3,239,950

FYVE, RhoGEF and PH domain containing 4

ISO
ISS

PMID:9536098 PMID:15744041 PMID:17564959 PMID:17564972 PMID:17576681 More...

NCBI chr11:84,399,989...84,551,013
Ensembl chr11:84,399,816...84,546,972

FYVE, RhoGEF and PH domain containing 4

ISO
IAGP

PMID:9536098 PMID:15744041 PMID:17564959 PMID:17564972 PMID:17576681 More...

NCBI chr16:16,234,774...16,418,400
Ensembl chr16:16,234,781...16,418,413

FYVE, RhoGEF and PH domain containing 4

IAGP
ISS
EXP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4H
ClinVar Annotator: match by term: FGD4-related condition
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4H | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4H | ClinVar Annotator: match by term: FGD4-related condition
OMIM:609311
CTD Direct Evidence: marker/mechanism

PMID:9536098 PMID:15744041 PMID:17564959 PMID:17564972 PMID:17576681 More...

NCBI chr12:32,399,558...32,646,050
Ensembl chr12:32,399,558...32,646,050

Charcot-Marie-Tooth disease type 4J

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FIG4 phosphoinositide 5-phosphatase

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18261132 More...

NCBI chrNW_004624850:29,362...156,346

FIG4 phosphoinositide 5-phosphatase

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18261132 More...

NCBI chr13:64,054,000...64,186,800
Ensembl chr13:64,054,002...64,186,714

FIG4 phosphoinositide 5-phosphatase

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18261132 More...

NCBI chr 1:75,694,151...75,847,021
Ensembl chr 1:75,694,151...75,847,528

FIG4 phosphoinositide 5-phosphatase

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18261132 More...

NCBI chrNW_004936564:5,736,908...5,842,210
Ensembl chrNW_004936564:5,736,873...5,842,722

FIG4 phosphoinositide 5-phosphatase

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18261132 More...

NCBI chr12:66,508,801...66,632,830
Ensembl chr12:66,509,431...66,632,822

FIG4 phosphoinositide 5-phosphatase

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18261132 More...

NCBI chr 6:107,495,637...107,631,201
Ensembl chr 6:111,539,937...111,673,894

FIG4 phosphoinositide 5-phosphatase

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18261132 More...

NCBI chrNW_004955411:3,135,752...3,217,891

FIG4 phosphoinositide 5-phosphatase

ISO
ISS

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J
OMIM:611228
CTD Direct Evidence: marker/mechanism

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18261132 More...

NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844

FIG4 phosphoinositide 5-phosphatase

ISO
IAGP

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J
CTD Direct Evidence: marker/mechanism
OMIM:611228

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18261132 More...

NCBI chr10:41,064,168...41,179,237
Ensembl chr10:41,064,168...41,179,256

FIG4 phosphoinositide 5-phosphatase

IAGP
ISS
EXP

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J
OMIM:611228
CTD Direct Evidence: marker/mechanism

PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18261132 More...

NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098

Charcot-Marie-Tooth disease type 4K

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LOC100983451

surfeit locus protein 1

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K

PMID:10443880 PMID:12026244 PMID:12515039 PMID:12943968 PMID:16326995 More...

NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904

LOC101710326

surfeit locus protein 1

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K

PMID:10443880 PMID:12026244 PMID:12515039 PMID:12943968 PMID:16326995 More...

NCBI chrNW_004624760:1,815,215...1,819,014
Ensembl chrNW_004624760:1,815,224...1,818,991

LOC101971854

surfeit locus protein 1

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K

PMID:10443880 PMID:12026244 PMID:12515039 PMID:12943968 PMID:16326995 More...

NCBI chrNW_004936669:3,527,741...3,532,087
Ensembl chrNW_004936669:3,527,761...3,534,586

LOC103239687

surfeit locus protein 1

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K

PMID:10443880 PMID:12026244 PMID:12515039 PMID:12943968 PMID:16326995 More...

NCBI chr12:4,780,415...4,785,538
Ensembl chr12:4,780,568...4,785,385

SURF1

SURF1 cytochrome c oxidase assembly factor

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K

PMID:10443880 PMID:12026244 PMID:12515039 PMID:12943968 PMID:16326995 More...

NCBI chr 1:272,965,637...272,970,516
Ensembl chr 1:272,965,643...272,970,483

SURF1

SURF1 cytochrome c oxidase assembly factor

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K

PMID:10443880 PMID:12026244 PMID:12515039 PMID:12943968 PMID:16326995 More...

NCBI chr 9:49,786,562...49,790,004
Ensembl chr 9:49,786,085...49,790,148

Surf1

surfeit 1

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K

PMID:10443880 PMID:12026244 PMID:12515039 PMID:12943968 PMID:16326995 More...

NCBI chrNW_004955513:2,707,877...2,711,606
Ensembl chrNW_004955513:2,707,951...2,711,566

Surf1

SURF1, cytochrome c oxidase assembly factor

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K

PMID:10443880 PMID:12026244 PMID:12515039 PMID:12943968 PMID:16326995 More...

NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315

Surf1

surfeit gene 1

ISO

ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K