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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:motor peripheral neuropathy
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Accession:DOID:2477 term browser browse the term
Definition:A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves. (DO)
Synonyms:exact_synonym: HMSN;   HMSN Type VII;   HSMN;   HSMN - hereditary sensory and motor neuropathy;   Herditary Sensory and Motor Neuropathy;   hereditary motor and sensory neuropathies;   hereditary motor and sensory neuropathy, type VII;   hereditary sensory and motor neuropathy;   neuropathic muscular atrophy
 narrow_synonym: sensory neuropathy with spastic paraplegia
 primary_id: MESH:D015417
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
motor peripheral neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10655068 NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255 		JBrowse link
G Cct5 chaperonin containing TCP1 subunit 5 ISO ClinVar Annotator: match by term: Sensory Neuropathy with Spastic Paraplegia ClinVar PMID:28492532 NCBI chr 2:82,591,750...82,602,903
Ensembl chr 2:82,590,630...82,602,930 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:25741868 NCBI chr  X:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar 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 		JBrowse link
G Egr2 early growth response 2 ISO congenital hypomyelinating neuropathy, OMIM:605253;DNA:point mutation:exon:I268N
CTD Direct Evidence: marker/mechanism
Dejerine-Sottas neuropathy, OMIM:145900;DNA:point mutation:exon:R359W		 CTD
RGD		 PMID:10369870 PMID:11523566 RGD:1601012, RGD:734922 NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mpz myelin protein zero ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17701891 NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714 		JBrowse link
G Prx periaxin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407 		JBrowse link
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370 		JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083 		JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISS MouseDO NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258 		JBrowse link
G Stmn2 stathmin 2 ISS MouseDO NCBI chr 2:93,204,690...93,252,011
Ensembl chr 2:93,204,692...93,252,011 		JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:25741868 NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905 		JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264 		JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO
ISS		 ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome
OMIM:258501
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469 		JBrowse link
Adult Refsum Disease, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Refsum disease, adult, 1 ClinVar PMID:1155634 PMID:2433405 PMID:9326939 PMID:9326940 PMID:9657395 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
Alstrom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alms1 ALMS1, centrosome and basal body associated protein susceptibility ISO
ISS		 DNA:frameshift mutations, nonsense mutations
ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome
OMIM:203800
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9063741 PMID:9409865 PMID:9536098 PMID:11941369 PMID:11941370 More... RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005 		JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Egr4 early growth response 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:118,047,869...118,050,328
Ensembl chr 4:118,047,869...118,050,328 		JBrowse link
G Emx1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,725,148...117,741,616
Ensembl chr 4:117,725,155...117,741,613 		JBrowse link
G Fbxo41 F-box protein 41 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:118,007,517...118,039,547
Ensembl chr 4:118,010,978...118,039,406 		JBrowse link
G Noto notochord homeobox ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,961,163...117,965,402
Ensembl chr 4:117,961,163...117,965,402 		JBrowse link
G Pradc1 protease-associated domain containing 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,984,732...117,989,710
Ensembl chr 4:117,984,742...117,989,886 		JBrowse link
G Rab11fip5 RAB11 family interacting protein 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,871,301...117,908,819
Ensembl chr 4:117,871,308...117,908,741 		JBrowse link
G Sfxn5 sideroflexin 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,750,213...117,869,826
Ensembl chr 4:117,752,806...117,869,794 		JBrowse link
G Smyd5 SMYD family member 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,969,615...117,984,082
Ensembl chr 4:117,969,626...117,984,347 		JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 1 ClinVar PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 PMID:28492532 NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:7723957 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24207122 More... NCBI chr18:55,956,950...56,004,013
Ensembl chr18:55,956,959...56,003,961 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:18344398 PMID:18832141 PMID:21892769 PMID:23948568 PMID:25429913 More... NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Hspb8 heat shock protein family B (small) member 8 ISO
ISS		 OMIM:158590
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A		 OMIM
MouseDO
CTD
ClinVar		 PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 More... NCBI chr12:40,176,405...40,205,002
Ensembl chr12:40,176,532...40,191,185 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 PMID:10835936 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More... NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258 		JBrowse link
G Sult1c2a sulfotransferase family 1C member 2A ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734 		JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030 		JBrowse link
Charcot-Marie-Tooth disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:17576681 PMID:20045102 PMID:21208200 PMID:21494555 More... NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Arf1 ADP-ribosylation factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:12566280 PMID:24078732 NCBI chr10:43,997,983...44,014,461
Ensembl chr10:43,997,986...44,014,434 		JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10319589 PMID:24627108 PMID:25025039 PMID:25164601 PMID:25741868 More... NCBI chr16:74,647,147...74,738,784
Ensembl chr16:74,647,153...74,738,173 		JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21194679 PMID:25741868 NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14985388 PMID:19153371 PMID:20170900 PMID:22210628 PMID:28119449 More... NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25802885 PMID:28492532 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:17387721 PMID:17486577 PMID:20806400 PMID:21957196 PMID:23142943 More... NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14517542 PMID:15322984 PMID:16194727 PMID:20301787 PMID:23408394 More... NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457 		JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15326253 PMID:18812314 PMID:19506225 PMID:23143281 PMID:24604904 More... NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815 		JBrowse link
G Dctn2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:26517670 NCBI chr 7:63,092,061...63,107,560
Ensembl chr 7:63,092,057...63,108,543 		JBrowse link
G Dhx9 DExH-box helicase 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr13:65,602,322...65,639,098
Ensembl chr13:65,602,323...65,639,069 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:22522442 PMID:24627108 PMID:25274842 PMID:25741868 PMID:26752306 More... NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:15731758 PMID:16227997 PMID:17636067 PMID:18394888 PMID:18414213 More... NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:7898717 PMID:10210919 PMID:21532572 PMID:23365052 PMID:23521649 More... NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684 		JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr 9:36,135,657...36,529,617
Ensembl chr 9:36,135,284...36,529,615 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21820100 PMID:22847149 More... NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10369870 PMID:10371530 PMID:10502832 PMID:10762521 PMID:11239949 More... NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562 		JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:9536098 PMID:10090896 PMID:11179008 PMID:11179021 PMID:12116234 More... NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762 		JBrowse link
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr18:55,956,950...56,004,013
Ensembl chr18:55,956,959...56,003,961 		JBrowse link
G Fgd4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15744041 PMID:17564959 PMID:17564972 PMID:19332693 PMID:20301641 More... NCBI chr11:84,399,989...84,551,013
Ensembl chr11:84,399,816...84,546,972 		JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:19118816 More... NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844 		JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24627108 PMID:25025039 PMID:25741868 PMID:28492532 NCBI chr19:45,207,783...45,265,066
Ensembl chr19:45,207,184...45,254,107 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:8541851 PMID:8872480 PMID:9879677 PMID:10732809 PMID:12690580 More... NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO DNA:nonsense mutation, deletion, missense mutation:exons:p.S194X, c.786delg, p.G262fsX284 (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia		 ClinVar
RGD		 PMID:257 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... RGD:1358634, RGD:12738398 NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy		 ClinVar PMID:1211842 PMID:2987105 PMID:7477983 PMID:7580242 PMID:7833935 More... NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Gnb4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 2:115,360,746...115,400,680
Ensembl chr 2:115,364,918...115,400,579 		JBrowse link
G Gstt2 glutathione S-transferase theta 2 severity IEP
ISO		 RGD PMID:22189569 PMID:22189569 RGD:9686084, RGD:9686084 NCBI chr20:12,819,617...12,823,288
Ensembl chr20:12,819,170...12,823,288 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24314034 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:22961002 PMID:24105373 PMID:25342199 PMID:25741868 PMID:28492532 More... NCBI chr10:38,989,516...38,993,259
Ensembl chr 4:92,100,973...92,101,568 		JBrowse link
G Hoxd10 homeo box D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146389 NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:2814495 PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 More... NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15021985 PMID:15122253 PMID:15565283 PMID:20157854 PMID:20538880 More... NCBI chr12:40,176,405...40,205,002
Ensembl chr12:40,176,532...40,191,185 		JBrowse link
G Ifrd1 interferon-related developmental regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19409521 PMID:25741868 NCBI chr 6:57,269,395...57,317,833
Ensembl chr 6:57,269,384...57,288,990 		JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 More... NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514 		JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia ClinVar PMID:20023659 PMID:20803156 PMID:21258034 PMID:22187985 PMID:22961558 More... NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941 		JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20920668 PMID:28492532 NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:17576681 PMID:18334619 PMID:24033266 PMID:24469107 More... NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530 		JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1407588 PMID:2239969 PMID:12525712 PMID:15122712 PMID:15776420 More... NCBI chr10:4,656,308...4,692,981
Ensembl chr10:4,625,552...4,692,763 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia		 ClinVar PMID:2526018 PMID:2733290 PMID:8621584 PMID:9500556 PMID:9536098 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20865121 PMID:22012984 More... NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:23729695 PMID:24103465 PMID:25741868 PMID:25913036 PMID:28492532 More... NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25488817 PMID:25741868 PMID:26257172 PMID:28492532 PMID:30039206 More... NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy		 ClinVar PMID:8406488 PMID:9409358 PMID:9536098 PMID:10732809 PMID:11148244 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mme membrane metallo-endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35212467 NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792 		JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease		 CTD
ClinVar		 PMID:7964809 PMID:12601114 PMID:25741868 PMID:25741893 PMID:26497905 More... NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:7504284 PMID:7505151 PMID:7506095 PMID:7511317 PMID:7527371 More... RGD:1358513 NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:16217706 PMID:17352390 PMID:18461509 PMID:22933740 PMID:25741868 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mtmr2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10802647 PMID:11335693 PMID:11354824 PMID:12045210 PMID:12398840 More... NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172 		JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836 		JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:12872253 PMID:17576681 PMID:25741868 PMID:26467025 More... NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar
RGD		 PMID:11220745 PMID:12477167 PMID:12566280 PMID:14733962 PMID:16619203 More... RGD:1358514 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Ngf nerve growth factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20978020 PMID:22302274 PMID:28492532 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Nrg1 neuregulin 1 treatment ISO RGD PMID:25150498 RGD:10449027 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:77656 PMID:3472625 PMID:10330344 PMID:10982191 PMID:11139246 More... NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO RGD PMID:20553714 RGD:5684901 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:58,486,699...58,553,533
Ensembl chr  X:58,486,554...58,553,557 		JBrowse link
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar 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 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G107V (human)		 ClinVar
CTD
OMIM
RGD		 PMID:475348 PMID:1301995 PMID:1349106 PMID:1552536 PMID:1552545 More... RGD:1358786, RGD:2312445, RGD:1358560 NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11026454 PMID:16504559 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia		 ClinVar 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 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10636124 PMID:11094113 PMID:12545426 PMID:15455439 PMID:17060578 More... NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889 		JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:22703882 PMID:24604904 PMID:25025039 PMID:25741868 PMID:28492532 NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338 		JBrowse link
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19838196 PMID:24327336 PMID:25741868 PMID:28492532 PMID:31737055 More... NCBI chr 2:76,335,609...76,474,817
Ensembl chr 2:76,335,609...76,493,898 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21210780 PMID:24799518 PMID:25558065 NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902 		JBrowse link
G Sbf2 SET binding factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9521281 PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 More... NCBI chr 1:164,352,892...164,719,883
Ensembl chr 1:164,353,444...164,719,807 		JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:16199547 PMID:24776970 PMID:25741868 PMID:25791876 PMID:28492532 More... NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21698661 PMID:28492532 PMID:28991257 PMID:32368696 NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia ClinVar PMID:12807974 PMID:16987171 PMID:17468193 PMID:19454582 PMID:23342407 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
G Sema5a semaphorin 5A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 2:83,309,843...83,741,084
Ensembl chr 2:83,309,843...83,741,084 		JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25025039 PMID:28492532 NCBI chr10:102,409,798...102,579,056
Ensembl chr10:102,409,711...102,579,055 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15732101 PMID:16717225 PMID:19696032 PMID:25025039 PMID:25741868 More... NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia		 ClinVar PMID:3000192 PMID:9536098 PMID:14574644 PMID:16326826 PMID:16806930 More... NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083 		JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1660691 PMID:12368912 PMID:12838516 PMID:16199547 PMID:16606917 More... NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258 		JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease		 CTD
ClinVar		 PMID:26168012 PMID:28492532 NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:7420092 PMID:11294660 PMID:23141292 PMID:25741868 NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258 		JBrowse link
G Sord sorbitol dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32367058 NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11026454 PMID:16504559 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:8673084 PMID:11242106 PMID:11242114 PMID:11479835 PMID:11781309 More... NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295 		JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:17081983 PMID:25567748 PMID:25741868 PMID:26681808 PMID:28492532 More... NCBI chr 6:106,948,682...107,031,532
Ensembl chr 6:106,950,949...107,031,542 		JBrowse link
G Tfg trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr11:43,885,542...43,911,976
Ensembl chr11:43,885,661...43,911,976 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO protein:increased expression:serum RGD PMID:21659498 RGD:7205513 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy		 CTD
ClinVar		 PMID:956253 PMID:1520078 PMID:2128891 PMID:4056805 PMID:8179305 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia		 ClinVar PMID:192115 PMID:1351039 PMID:1353008 PMID:1355416 PMID:1356051 More... NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15911806 PMID:16534117 PMID:16636245 PMID:18521183 NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14606043 PMID:16429158 PMID:19561293 PMID:21384131 PMID:25741868 More... NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO DNA:missense mutation:cds:p.G327D (human) RGD PMID:21365284 RGD:12738395 NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Nefh neurofilament heavy chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C ClinVar PMID:25741868 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 2 C
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:956253 PMID:1520078 PMID:2128891 PMID:4056805 PMID:6628444 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2CC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefh neurofilament heavy chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar Annotator: match by term: NEFH-related condition ClinVar
OMIM		 PMID:25741868 PMID:27040688 PMID:28492532 PMID:28749476 PMID:29411640 More... NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F | ClinVar Annotator: match by term: HSPB1-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2814495 PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 More... NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
Charcot-Marie-Tooth Disease Axonal Type 2FF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cadm3 cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2FF OMIM
ClinVar		 PMID:25741868 PMID:33889941 NCBI chr13:85,784,785...85,817,412
Ensembl chr13:85,786,483...85,817,749 		JBrowse link
Charcot-Marie-Tooth Disease Axonal Type 2HH term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH OMIM
ClinVar		 PMID:10220506 PMID:11058898 PMID:11139239 PMID:12497640 PMID:19948535 More... NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
Charcot-Marie-Tooth Disease Axonal Type 2II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2II | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2II | ClinVar Annotator: match by term: SLC12A6-related condition OMIM
ClinVar		 PMID:9536098 PMID:12368912 PMID:16606917 PMID:17576681 PMID:18566107 More... NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:25326637 PMID:28492532 NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K ClinVar 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 		JBrowse link
G Eloc elongin C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:2,661,527...2,677,893
Ensembl chr 5:2,661,724...2,677,890 		JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO
ISS		 ClinVar Annotator: match by term: Autosomal dominant Charcot-Marie-Tooth disease type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K
OMIM:607831
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.P231L (human)
DNA:missense mutation:cds:p.L239F (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... RGD:12738397, RGD:12738396 NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Jph1 junctophilin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K		 OMIM
CTD
ClinVar		 PMID:15805163 PMID:20685671 PMID:21681106 PMID:25168384 NCBI chr 5:2,030,227...2,137,171
Ensembl chr 5:2,030,281...2,125,284 		JBrowse link
G Ly96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386 		JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729 		JBrowse link
G Ube2w ubiquitin-conjugating enzyme E2W ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:2,690,742...2,754,491
Ensembl chr 5:2,690,763...2,814,965 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2L | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2L OMIM
ClinVar		 PMID:15021985 PMID:15122253 PMID:15565283 PMID:17344846 PMID:18832141 More... NCBI chr12:40,176,405...40,205,002
Ensembl chr12:40,176,532...40,191,185 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7842019 PMID:9536098 PMID:17576681 PMID:20045102 PMID:21208200 More... NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		JBrowse link
G Atl3 atlastin GTPase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N ClinVar PMID:21494555 PMID:28492532 NCBI chr 1:204,680,958...204,727,360
Ensembl chr 1:204,680,968...204,723,354 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adss1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998 		JBrowse link
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,830,668...131,876,311 JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Ankrd9 ankyrin repeat domain 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:130,001,914...130,008,792
Ensembl chr 6:129,998,486...130,008,923 		JBrowse link
G Aspg asparaginase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268 		JBrowse link
G Atp5mj-ps1 ATP synthase membrane subunit j, pseudogene 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 1:168,472,019...168,472,630
Ensembl chr 1:168,472,329...168,472,610 		JBrowse link
G Bag5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,768,467...130,772,122
Ensembl chr 6:130,768,141...130,772,970 		JBrowse link
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278 		JBrowse link
G Btbd6 BTB domain containing 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:132,058,094...132,060,603
Ensembl chr 6:132,058,096...132,060,587 		JBrowse link
G C6h14orf180 similar to human chromosome 14 open reading frame 180 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,557,193...131,568,245
Ensembl chr 6:131,559,690...131,567,342 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377 		JBrowse link
G Cdca4 cell division cycle associated 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,892,305...131,901,571
Ensembl chr 6:131,892,087...131,901,564 		JBrowse link
G Cep170b centrosomal protein 170B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,780,935...131,806,658
Ensembl chr 6:131,778,957...131,806,658 		JBrowse link
G Cinp cyclin-dependent kinase 2-interacting protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:129,878,618...129,899,575
Ensembl chr 6:129,885,570...129,899,480 		JBrowse link
G Ckb creatine kinase B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		JBrowse link
G Clba1 clathrin binding box of aftiphilin containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,882,866...131,889,662
Ensembl chr 6:131,882,609...131,889,662 		JBrowse link
G Coa8 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,772,218...130,797,081
Ensembl chr 6:130,771,199...130,797,081 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO
ISS		 ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O
OMIM:614228		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:10862709 PMID:12730604 PMID:16199547 PMID:17576681 More... NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Eif5 eukaryotic translation initiation factor 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,589,162...130,597,656
Ensembl chr 6:130,589,143...130,597,656 		JBrowse link
G Exoc3l4 exocyst complex component 3-like 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,452,680...130,466,684
Ensembl chr 6:130,452,661...130,466,683 		JBrowse link
G Gpr132 G protein-coupled receptor 132 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,924,061...131,943,327
Ensembl chr 6:131,924,160...131,942,168 		JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268 		JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941 		JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818 		JBrowse link
G Kif26a kinesin family member 26A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,214,839...131,250,874
Ensembl chr 6:131,214,861...131,250,320 		JBrowse link
G Klc1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,823,416...130,866,729
Ensembl chr 6:130,823,419...130,867,031 		JBrowse link
G Mark3 microtubule affinity regulating kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,626,612...130,716,245
Ensembl chr 6:130,627,482...130,716,647 		JBrowse link
G Mok MOK protein kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:129,823,794...129,854,669
Ensembl chr 6:129,823,795...129,854,700 		JBrowse link
G Nudt14 nudix hydrolase 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:132,010,309...132,017,298
Ensembl chr 6:132,010,297...132,017,298 		JBrowse link
G Pacs2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:132,096,992...132,156,702
Ensembl chr 6:132,096,901...132,154,583 		JBrowse link
G Pld4 phospholipase D family, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,818,860...131,827,457
Ensembl chr 6:131,818,860...131,826,376 		JBrowse link
G Ppp1r13b protein phosphatase 1, regulatory subunit 13B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,890,682...130,963,845
Ensembl chr 6:130,890,679...130,963,330 		JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:25817843 PMID:28492532 NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346 		JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:130,069,606...130,146,164
Ensembl chr 6:130,069,392...130,146,153 		JBrowse link
G Rd3l RD3 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,042,274...131,044,178
Ensembl chr 6:131,042,185...131,044,163 		JBrowse link
G Siva1 SIVA1, apoptosis-inducing factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,705,323...131,709,697
Ensembl chr 6:131,705,323...131,709,690 		JBrowse link
G Tdrd9 tudor domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,029,644...131,145,076
Ensembl chr 6:131,029,652...131,144,651 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974 		JBrowse link
G Tmem179 transmembrane protein 179 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,569,289...131,580,413
Ensembl chr 6:131,569,290...131,580,305 		JBrowse link
G Tnfaip2 TNF alpha induced protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,476,832...130,489,914
Ensembl chr 6:130,476,889...130,489,914 		JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481 		JBrowse link
G Trmt61a tRNA methyltransferase 61A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,737,230...130,743,251
Ensembl chr 6:130,737,219...130,743,243 		JBrowse link
G Wdr20 WD repeat domain 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:129,751,952...129,821,464
Ensembl chr 6:129,752,014...129,847,339 		JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444 		JBrowse link
G Zbtb42 zinc finger and BTB domain containing 42 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,734,257...131,742,459
Ensembl chr 6:131,738,356...131,742,685 		JBrowse link
G Zfp839 zinc finger protein 839 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:129,865,859...129,885,816
Ensembl chr 6:129,864,915...129,886,389 		JBrowse link
G Zfyve21 zinc finger FYVE-type containing 21 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,873,979...130,894,618
Ensembl chr 6:130,873,912...130,894,411 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO
ISS		 ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2P | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2P
OMIM:614436		 OMIM
ClinVar
MouseDO		 PMID:3022865 PMID:9536098 PMID:14985381 PMID:16199547 PMID:17576681 More... NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO
ISS		 OMIM:615025
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Q		 OMIM
MouseDO
ClinVar		 PMID:16199547 PMID:23141293 PMID:23141294 PMID:25326637 PMID:25741868 More... NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO
ISS		 ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2S
OMIM:616155		 OMIM
ClinVar
MouseDO		 PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 More... NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T ClinVar PMID:24088041 PMID:26633545 NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277 		JBrowse link
G Mme membrane metallo-endopeptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2T | ClinVar Annotator: match by term: MME-related autosomal dominant Charcot Marie Tooth disease type 2 | ClinVar Annotator: match by term: MME-related condition OMIM
ClinVar		 PMID:15464186 PMID:16199547 PMID:25565308 PMID:25741868 PMID:26991897 More... NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:62,897,282...62,914,295
Ensembl chr 7:62,897,282...62,914,295 		JBrowse link
G Apof apolipoprotein F ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:700,688...702,130
Ensembl chr 7:700,762...701,946 		JBrowse link
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U ClinVar PMID:9536098 PMID:17576681 PMID:24482476 PMID:28492532 PMID:35303589 NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524 		JBrowse link
G Arhgef25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,005,938...63,013,325
Ensembl chr 7:63,005,940...63,013,719 		JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273 		JBrowse link
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:62,988,429...62,996,190
Ensembl chr 7:62,988,930...62,996,190 		JBrowse link
G Baz2a bromodomain adjacent to zinc finger domain, 2A ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:523,204...560,911
Ensembl chr 7:523,265...560,659 		JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Dctn2 dynactin subunit 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,092,061...63,107,560
Ensembl chr 7:63,092,057...63,108,543 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Dtx3 deltex E3 ubiquitin ligase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,013,769...63,018,431
Ensembl chr 7:63,013,371...63,018,522 		JBrowse link
G Eef1akmt3 EEF1A lysine methyltransferase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:62,853,304...62,864,558
Ensembl chr 7:62,854,899...62,864,617 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Gls2 glutaminase 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		JBrowse link
G Gpr182 G protein-coupled receptor 182 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,585,997...63,589,088
Ensembl chr 7:63,578,750...63,589,210 		JBrowse link
G Hsd17b6 hydroxysteroid (17-beta) dehydrogenase 6 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:422,466...442,008
Ensembl chr 7:422,480...442,425 		JBrowse link
G Il23a interleukin 23 subunit alpha ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923 		JBrowse link
G Inhbc inhibin subunit beta C ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,184,141...63,197,630
Ensembl chr 7:63,184,142...63,197,630 		JBrowse link
G Inhbe inhibin subunit beta E ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,176,221...63,179,209
Ensembl chr 7:63,176,219...63,179,172 		JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910 		JBrowse link
G Marchf9 membrane associated ring-CH-type finger 9 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:62,879,017...62,882,495
Ensembl chr 7:62,879,018...62,882,495 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Mbd6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,107,562...63,115,841
Ensembl chr 7:63,107,562...63,113,274 		JBrowse link
G Mettl1 methyltransferase 1, tRNA methylguanosine ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:62,864,860...62,869,202
Ensembl chr 7:62,864,853...62,869,202 		JBrowse link
G Mip major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:643,502...653,121
Ensembl chr 7:647,315...654,400 		JBrowse link
G Myo1a myosin IA ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,542,988...63,557,944
Ensembl chr 7:63,542,988...63,557,944 		JBrowse link
G Nab2 Ngfi-A binding protein 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,497,589...63,504,105
Ensembl chr 7:63,497,589...63,503,989 		JBrowse link
G Naca nascent polypeptide associated complex subunit alpha ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:468,862...481,992
Ensembl chr 7:469,723...481,992 		JBrowse link
G Ndufa4l2 NDUFA4, mitochondrial complex associated like 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,351,021...63,359,010
Ensembl chr 7:63,356,883...63,359,010 		JBrowse link
G Nemp1 nuclear envelope integral membrane protein 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,514,025...63,538,791
Ensembl chr 7:63,479,951...63,534,602 		JBrowse link
G Nxph4 neurexophilin 4 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,367,758...63,376,579
Ensembl chr 7:63,367,761...63,376,579 		JBrowse link
G Os9 OS9, endoplasmic reticulum lectin ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:62,915,498...62,957,591
Ensembl chr 7:62,915,515...62,943,745 		JBrowse link
G Pan2 poly(A) specific ribonuclease subunit PAN2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:729,146...747,744
Ensembl chr 7:729,562...747,744 		JBrowse link
G Pip4k2c phosphatidylinositol-5-phosphate 4-kinase type 2 gamma ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,020,004...63,035,086
Ensembl chr 7:63,020,000...63,035,078 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:14557557 PMID:14635118 PMID:16401742 PMID:16940310 PMID:18546365 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Prim1 DNA primase subunit 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:446,342...462,526
Ensembl chr 7:431,805...462,526 		JBrowse link
G Ptges3 prostaglandin E synthase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:490,698...507,759
Ensembl chr 7:490,656...508,084 		JBrowse link
G R3hdm2 R3H domain containing 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,212,519...63,340,574
Ensembl chr 7:63,232,346...63,340,540 		JBrowse link
G Rbms2 RNA binding motif, single stranded interacting protein 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:560,787...603,881
Ensembl chr 7:560,648...600,232 		JBrowse link
G Rdh16 retinol dehydrogenase 16 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,616,711...63,625,053
Ensembl chr 7:63,597,536...63,624,124 		JBrowse link
G Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480 		JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236 		JBrowse link
G Spryd4 SPRY domain containing 4 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:633,400...637,564
Ensembl chr 7:633,394...637,557 		JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,343,078...63,350,590
Ensembl chr 7:63,343,186...63,350,589 		JBrowse link
G Stat2 signal transducer and activator of transcription 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495 		JBrowse link
G Tac3 tachykinin precursor 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,562,552...63,569,170
Ensembl chr 7:63,562,552...63,569,170 		JBrowse link
G Timeless timeless circadian regulator ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:654,804...678,769
Ensembl chr 7:654,822...678,738 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769 		JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388 		JBrowse link
G Zbtb39 zinc finger and BTB domain containing 39 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,576,998...63,584,549
Ensembl chr 7:63,576,917...63,589,210 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2V OMIM
ClinVar		 PMID:8650226 PMID:9443875 PMID:9443878 PMID:9832037 PMID:9950362 More... NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2X OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 More... NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2Z term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Morc2 MORC family CW-type zinc finger 2 ISO
ISS		 ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Z
OMIM:616688		 OMIM
ClinVar
MouseDO		 PMID:7964809 PMID:9536098 PMID:12601114 PMID:16199547 PMID:17576681 More... NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth Disease, axonal, type 2GG		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:32937143 NCBI chr 1:245,018,535...245,147,052
Ensembl chr 1:245,018,568...245,147,042 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929 		JBrowse link
G Angptl8 angiopoietin-like 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,376,462...20,378,488
Ensembl chr 8:20,376,462...20,378,490 		JBrowse link
G Best2 bestrophin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,142,324...23,148,351
Ensembl chr19:23,141,602...23,148,339 		JBrowse link
G C8h19orf38 similar to human chromosome 19 open reading frame 38 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,061,494...20,095,705
Ensembl chr 8:20,078,639...20,095,696 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Calr calreticulin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414 		JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689 		JBrowse link
G Ccdc159 coiled-coil domain containing 159 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,457,905...20,467,232
Ensembl chr 8:20,457,909...20,466,562 		JBrowse link
G Cnn1 calponin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,632,434...20,641,097
Ensembl chr 8:20,632,338...20,641,098 		JBrowse link
G Dand5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589 		JBrowse link
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881 		JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2734399 PMID:9536098 PMID:15731758 PMID:16199547 PMID:16227997 More... NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552 		JBrowse link
G Ecsit ECSIT signaling integrator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,605,583...20,618,453
Ensembl chr 8:20,605,583...20,618,390 		JBrowse link
G Elavl3 ELAV like RNA binding protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,547,108...20,583,369
Ensembl chr 8:20,550,201...20,583,641 		JBrowse link
G Elof1 elongation factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,645,336...20,650,888
Ensembl chr 8:20,645,336...20,650,579 		JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980 		JBrowse link
G Fbxw9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439 		JBrowse link
G Gadd45gip1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Get3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193 		JBrowse link
G Hook2 hook microtubule-tethering protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181 		JBrowse link
G Ier2 immediate early response 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211 		JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035 		JBrowse link
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900 		JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G LOC102546572 zinc finger protein 709-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 7:11,846,077...11,868,732
Ensembl chr 7:11,845,560...11,868,717 		JBrowse link
G Lyl1 LYL1, basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007 		JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235 		JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528 		JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499 		JBrowse link
G Prdx2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194 		JBrowse link
G Prkcsh PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492 		JBrowse link
G Rab3d RAB3D, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,438,622...20,449,269
Ensembl chr 8:20,439,294...20,449,185 		JBrowse link
G Rad23a RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695 		JBrowse link
G Ralgdsl3 ral guanine nucleotide dissociation stimulator like 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,500,846...20,520,471
Ensembl chr 8:20,500,846...20,520,471 		JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041 		JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Spc24 SPC24 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,300,315...20,305,354
Ensembl chr 8:20,300,319...20,305,310 		JBrowse link
G Swsap1 SWIM-type zinc finger 7 associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,486,680...20,489,213
Ensembl chr 8:20,486,678...20,489,211 		JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980 		JBrowse link
G Timm29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,145,264...20,148,233 JBrowse link
G Tmed1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,059,937...20,063,567
Ensembl chr 8:20,059,892...20,063,677 		JBrowse link
G Tmem205 transmembrane protein 205 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,452,092...20,458,011
Ensembl chr 8:20,452,092...20,457,828 		JBrowse link
G Tnpo2 transportin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596 		JBrowse link
G Trir telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510 		JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956 		JBrowse link
G Wdr83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563 		JBrowse link
G Wdr83os WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,075,373...23,076,745
Ensembl chr19:23,075,376...23,076,894 		JBrowse link
G Yipf2 Yip1 domain family, member 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,141,148...20,145,349
Ensembl chr 8:20,141,155...20,145,339 		JBrowse link
G Zfp653 zinc finger protein 653 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,586,607...20,605,439
Ensembl chr 8:20,586,563...20,604,864 		JBrowse link
G Zfp709 zinc finger protein 709 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr16:17,907,599...17,920,047
Ensembl chr16:17,909,641...17,919,700 		JBrowse link
G Zfp791 zinc finger protein 791 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,018,418...23,033,580
Ensembl chr19:23,018,918...23,033,504 		JBrowse link
G Zfp799 zinc finger protein 799 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 7:11,894,224...11,910,809
Ensembl chr 7:11,898,149...11,910,798 		JBrowse link
G Zfp866 zinc finger protein 866 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr16:19,653,966...19,675,968
Ensembl chr16:19,668,258...19,675,932 		JBrowse link
G Zfp867 zinc finger protein 867 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr10:44,244,813...44,255,223
Ensembl chr10:44,245,880...44,255,395 		JBrowse link
G Zfp873 zinc finger protein 873 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 7:7,926,951...7,959,822
Ensembl chr 7:7,926,957...7,951,803
Ensembl chr 7:7,926,957...7,951,803 		JBrowse link
G Zfp878 zinc finger protein 878 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr16:17,856,860...17,887,122
Ensembl chr16:17,856,878...17,868,403 		JBrowse link
G Zfp951 zinc finger protein 951 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr14:5,032,494...5,048,775
Ensembl chr14:5,033,734...5,048,756 		JBrowse link
G ZNF69l zinc finger protein 69 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 3:138,545,521...138,560,500
Ensembl chr 3:138,544,658...138,557,896 		JBrowse link
G Znf709l zinc finger protein 709 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,710,114...20,721,236
Ensembl chr 8:20,710,461...20,720,246 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A3galt2 alpha 1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,101,329...141,113,760
Ensembl chr 5:141,107,983...141,115,641 		JBrowse link
G Adprs ADP-ribosylserine hydrolase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,614,022...138,619,296
Ensembl chr 5:138,614,022...138,619,296 		JBrowse link
G Ago1 argonaute RISC component 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,722,111...138,757,118
Ensembl chr 5:138,722,111...138,773,546 		JBrowse link
G Ago3 argonaute RISC catalytic component 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,632,367...138,714,230
Ensembl chr 5:138,639,569...138,714,230 		JBrowse link
G Ago4 argonaute RISC component 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,780,446...138,825,898
Ensembl chr 5:138,783,069...138,825,632 		JBrowse link
G Airim AFG2 interacting ribosome maturation factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,198,688...137,205,912
Ensembl chr 5:137,198,720...137,204,026 		JBrowse link
G Ak2 adenylate kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,308,650...141,364,633
Ensembl chr 5:141,346,063...141,364,632 		JBrowse link
G Akirin1 akirin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,989,378...136,004,782
Ensembl chr 5:135,989,465...136,004,762 		JBrowse link
G Akr1a1 aldo-keto reductase family 1 member A1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,092,945...130,130,277
Ensembl chr 5:130,092,732...130,113,674 		JBrowse link
G Armh1 armadillo-like helical domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,680,955...130,722,062
Ensembl chr 5:130,682,485...130,722,062 		JBrowse link
G Artn artemin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025 		JBrowse link
G Atp6v0b ATPase H+ transporting V0 subunit B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,423,384...131,424,900
Ensembl chr 5:131,423,387...131,426,401 		JBrowse link
G Azin2 antizyme inhibitor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,281,310...141,310,415
Ensembl chr 5:141,281,249...141,310,397 		JBrowse link
G B4galt2 beta-1,4-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,412,541...131,422,573
Ensembl chr 5:131,412,541...131,421,013 		JBrowse link
G Best4 bestrophin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,622,194...130,629,045
Ensembl chr 5:130,623,438...130,627,099 		JBrowse link
G Bmp8a bone morphogenetic protein 8a ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,589,839...135,617,785
Ensembl chr 5:135,591,716...135,617,785 		JBrowse link
G Bmp8b bone morphogenetic protein 8b ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,386,058...135,411,337
Ensembl chr 5:135,386,311...135,405,197 		JBrowse link
G Btbd19 BTB domain containing 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,596,966...130,605,403
Ensembl chr 5:130,597,684...130,604,335 		JBrowse link
G C5h1orf122 similar to human chromosome 1 open reading frame 122 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,109,093...137,110,130
Ensembl chr 5:137,108,633...137,110,929 		JBrowse link
G C5h1orf210 similar to human chromosome 1 open reading frame 210 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,048,755...132,051,913
Ensembl chr 5:132,048,773...132,051,925 		JBrowse link
G C5h1orf216 similar to human chromosome 1 open reading frame 216 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,900,045...138,905,267
Ensembl chr 5:138,900,581...138,905,273 		JBrowse link
G C5h1orf50 similar to human chromosome 1 open reading frame 50 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,837,135...132,841,744
Ensembl chr 5:132,836,506...132,841,762 		JBrowse link
G C5h1orf94 similar to human chromosome 1 open reading frame 94 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,282,041...140,325,815
Ensembl chr 5:140,282,043...140,325,815 		JBrowse link
G Cap1 cyclase associated actin cytoskeleton regulatory protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,142,108...135,168,885
Ensembl chr 5:135,142,112...135,168,769 		JBrowse link
G Ccdc17 coiled-coil domain containing 17 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,051,158...130,056,676
Ensembl chr 5:130,045,938...130,056,673 		JBrowse link
G Ccdc24 coiled-coil domain containing 24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,398,766...131,412,395
Ensembl chr 5:131,408,143...131,412,029 		JBrowse link
G Ccdc30 coiled-coil domain containing 30 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,926,767...133,019,635
Ensembl chr 5:132,926,615...133,019,659 		JBrowse link
G Cdc20 cell division cycle 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,966,203...131,970,406
Ensembl chr 5:131,966,215...131,970,512 		JBrowse link
G Cdca8 cell division cycle associated 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,176,414...137,198,686
Ensembl chr 5:137,176,417...137,198,629 		JBrowse link
G Cfap144 cilia and flagella associated protein 144 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr10:43,509,823...43,519,693
Ensembl chr10:43,509,826...43,520,086 		JBrowse link
G Cfap57 cilia and flagella associated protein 57 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,074,404...132,148,102
Ensembl chr 5:132,074,395...132,148,462 		JBrowse link
G Cited4 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,246,936...134,247,827
Ensembl chr 5:134,246,682...134,248,135 		JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227 		JBrowse link
G Clspn claspin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,850,119...138,885,037
Ensembl chr 5:138,850,128...138,885,034 		JBrowse link
G Col8a2 collagen type VIII alpha 2 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,586,201...138,613,627
Ensembl chr 5:138,585,999...138,612,850 		JBrowse link
G Col9a2 collagen type IX alpha 2 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,607,616...134,624,678
Ensembl chr 5:134,607,616...134,624,677 		JBrowse link
G Csf3r colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881 		JBrowse link
G Csmd2 CUB and Sushi multiple domains 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,342,352...140,912,422
Ensembl chr 5:140,342,376...140,912,234 		JBrowse link
G Ctps1 CTP synthase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180 		JBrowse link
G Dlgap3 DLG associated protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,491,972...139,562,625
Ensembl chr 5:139,492,947...139,562,625 		JBrowse link
G Dmap1 DNA methyltransferase 1-associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,143,726...131,151,760
Ensembl chr 5:131,143,729...131,151,742 		JBrowse link
G Dnali1 dynein, axonemal, light intermediate chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,318,475...137,327,313
Ensembl chr 5:137,318,477...137,327,336 		JBrowse link
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395 		JBrowse link
G Dynlt4 dynein light chain Tctex-type 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,605,437...130,607,224
Ensembl chr 5:130,605,399...130,607,666 		JBrowse link
G Ebna1bp2 EBNA1 binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,148,164...132,152,730
Ensembl chr 5:132,148,143...132,153,267 		JBrowse link
G Edn2 endothelin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814 		JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,492,167...130,558,692
Ensembl chr 5:130,492,220...130,563,332 		JBrowse link
G Elovl1 ELOVL fatty acid elongase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,961,478...131,965,961
Ensembl chr 5:131,961,322...131,965,958 		JBrowse link
G Epha10 EPH receptor A10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,139,588...137,175,637
Ensembl chr 5:137,140,735...137,174,157 		JBrowse link
G Eri3 ERI1 exoribonuclease family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,016,146...131,143,347
Ensembl chr 5:131,016,126...131,143,329 		JBrowse link
G Ermap erythroblast membrane associated protein (Scianna blood group) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,788,847...132,803,030
Ensembl chr 5:132,789,991...132,802,847 		JBrowse link
G Eva1b eva-1 homolog B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,427,088...138,429,602
Ensembl chr 5:138,427,151...138,432,433 		JBrowse link
G Exo5 exonuclease 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,494,440...134,497,757
Ensembl chr 5:134,493,829...134,497,772 		JBrowse link
G Fhl3 four and a half LIM domains 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,953,947...136,961,317
Ensembl chr 5:136,950,411...136,961,317 		JBrowse link
G Fndc5 fibronectin type III domain containing 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,481,593...141,491,257
Ensembl chr 5:141,481,590...141,490,731 		JBrowse link
G Foxj3 forkhead box J3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,140,344...133,228,489
Ensembl chr 5:133,140,884...133,228,489 		JBrowse link
G Foxo6 forkhead box O6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,856,087...133,876,387
Ensembl chr 5:133,856,072...133,876,573 		JBrowse link
G Gja4 gap junction protein, alpha 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925 		JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980 		JBrowse link
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667 		JBrowse link
G Gjb5 gap junction protein, beta 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,680,670...139,683,588
Ensembl chr 5:139,680,671...139,683,583 		JBrowse link
G Gnl2 G protein nucleolar 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,293,141...137,318,528
Ensembl chr 5:137,293,081...137,318,526 		JBrowse link
G Gpbp1l1 GC-rich promoter binding protein 1-like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,009,768...130,050,636
Ensembl chr 5:130,023,137...130,050,459 		JBrowse link
G Grik3 glutamate ionotropic receptor kainate type subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,767,865...137,989,617
Ensembl chr 5:137,767,865...137,984,307 		JBrowse link
G Guca2a guanylate cyclase activator 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,237,177...133,239,019
Ensembl chr 5:133,237,177...133,239,018 		JBrowse link
G Guca2b guanylate cyclase activator 2B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,246,891...133,248,941
Ensembl chr 5:133,246,909...133,248,966 		JBrowse link
G Hectd3 HECT domain E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,469,840...130,479,802
Ensembl chr 5:130,469,840...130,478,561 		JBrowse link
G Heyl hes-related family bHLH transcription factor with YRPW motif-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,508,160...135,525,152
Ensembl chr 5:135,508,160...135,525,152 		JBrowse link
G Hivep3 HIVEP zinc finger 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,325,327...133,727,797
Ensembl chr 5:133,658,052...133,727,795 		JBrowse link
G Hmgb4 high-mobility group box 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,616,040...140,616,722
Ensembl chr 5:140,615,197...140,616,770 		JBrowse link
G Hpca hippocalcin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,455,616...141,466,252
Ensembl chr 5:141,455,613...141,463,841 		JBrowse link
G Hpcal4 hippocalcin-like 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,454,477...135,466,417
Ensembl chr 5:135,454,540...135,466,416 		JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Hyi hydroxypyruvate isomerase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,894,575...131,897,709
Ensembl chr 5:131,894,598...131,897,251 		JBrowse link
G Inpp5b inositol polyphosphate-5-phosphatase B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,996,766...137,061,315
Ensembl chr 5:136,996,686...137,061,315 		JBrowse link
G Ipo13 importin 13 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,433,770...131,454,044
Ensembl chr 5:131,433,776...131,454,043 		JBrowse link
G Ipp intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:129,962,528...130,001,237
Ensembl chr 5:129,962,643...130,001,242 		JBrowse link
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,275,145...134,326,992
Ensembl chr 5:134,275,934...134,326,932 		JBrowse link
G Kdm4a lysine demethylase 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,672,754...131,719,534
Ensembl chr 5:131,672,754...131,719,501 		JBrowse link
G KIAA0319l KIAA0319 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,047,847...139,140,709
Ensembl chr 5:139,046,143...139,140,715 		JBrowse link
G Kif2c kinesin family member 2C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,637,347...130,662,680
Ensembl chr 5:130,637,347...130,662,637 		JBrowse link
G Klf17 KLF transcription factor 17 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,293,068...131,315,878
Ensembl chr 5:131,307,476...131,315,084 		JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,365,983...138,375,856
Ensembl chr 5:138,373,119...138,377,505 		JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,623,734...135,949,097
Ensembl chr 5:135,623,742...135,945,905 		JBrowse link
G Maneal mannosidase, endo-alpha-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,115,154...137,122,299
Ensembl chr 5:137,115,632...137,122,353 		JBrowse link
G Map7d1 MAP7 domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,527,944...138,552,537
Ensembl chr 5:138,527,401...138,552,499 		JBrowse link
G Mast2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:129,776,293...129,915,502
Ensembl chr 5:129,775,676...129,915,606 		JBrowse link
G Meaf6 MYST/Esa1-associated factor 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,344,681...137,369,703
Ensembl chr 5:137,344,380...137,370,014 		JBrowse link
G Med8 mediator complex subunit 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,948,632...131,949,516
Ensembl chr 5:131,943,982...131,950,305 		JBrowse link
G Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690 		JBrowse link
G Mir30c1 microRNA 30c-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,349,237...134,349,325
Ensembl chr 5:134,349,237...134,349,325 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601 		JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797 		JBrowse link
G Mrps15 mitochondrial ribosomal protein S15 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,321,610...138,332,205
Ensembl chr 5:138,321,593...138,332,205 		JBrowse link
G Mtf1 metal-regulatory transcription factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,062,319...137,107,136
Ensembl chr 5:137,062,376...137,107,136 		JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146 		JBrowse link
G Mycbp Myc binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,135,955...136,143,163
Ensembl chr 5:136,135,931...136,145,616 		JBrowse link
G Mycl MYCL proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,274,713...135,281,584
Ensembl chr 5:135,274,748...135,281,582 		JBrowse link
G Nasp nuclear autoantigenic sperm protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,057,363...130,083,003
Ensembl chr 5:130,057,363...130,082,928 		JBrowse link
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,037,807...139,047,645
Ensembl chr 5:139,037,819...139,047,568 		JBrowse link
G Ndufs5 NADH:ubiquinone oxidoreductase subunit S5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,974,029...135,979,705
Ensembl chr 5:135,974,034...135,979,603
Ensembl chr14:135,974,034...135,979,603
Ensembl chr 2:135,974,034...135,979,603 		JBrowse link
G Nfyc nuclear transcription factor Y subunit gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,336,802...134,405,372
Ensembl chr 5:134,336,808...134,405,377 		JBrowse link
G Nt5c1a 5'-nucleotidase, cytosolic IA ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,473,107...135,494,400
Ensembl chr 5:135,473,231...135,499,338 		JBrowse link
G Oscp1 organic solute carrier partner 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,334,552...138,365,220
Ensembl chr 5:138,333,893...138,366,822 		JBrowse link
G Oxct2b 3-oxoacid CoA transferase 2B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,396,632...135,398,386 JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,841,868...132,856,664
Ensembl chr 5:132,841,928...132,856,659 		JBrowse link
G Pabpc4 poly(A) binding protein, cytoplasmic 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,563,142...135,578,985
Ensembl chr 5:135,563,562...135,578,979 		JBrowse link
G Phc2 polyhomeotic homolog 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,000,604...141,099,268
Ensembl chr 5:141,050,842...141,099,268 		JBrowse link
G Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:129,700,925...129,772,591
Ensembl chr 5:129,701,229...129,772,583 		JBrowse link
G Plk3 polo-like kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,607,142...130,612,317
Ensembl chr 5:130,607,142...130,612,317 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Pou3f1 POU class 3 homeobox 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,910,391...136,913,371
Ensembl chr 5:136,910,391...136,913,371 		JBrowse link
G Ppcs phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,023,077...133,026,899
Ensembl chr 5:133,023,121...133,026,933 		JBrowse link
G Ppie peptidylprolyl isomerase E ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,406,172...135,419,332
Ensembl chr 5:135,406,176...135,419,235 		JBrowse link
G Ppih peptidylprolyl isomerase H ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,906,324...132,924,341
Ensembl chr 5:132,906,328...132,924,267 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,121,164...135,142,048
Ensembl chr 5:135,121,163...135,142,048 		JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856 		JBrowse link
G Psmb2 proteasome 20S subunit beta 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,970,564...139,002,715
Ensembl chr 5:138,970,533...139,021,137 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405 		JBrowse link
G Ptprf protein tyrosine phosphatase, receptor type, F ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,741,959...131,824,000
Ensembl chr 5:131,742,754...131,810,023 		JBrowse link
G Rhbdl2 rhomboid like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,037,560...136,081,970
Ensembl chr 5:136,037,305...136,081,969 		JBrowse link
G Rimkla ribosomal modification protein rimK-like family member A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,072,179...133,098,840
Ensembl chr 5:133,073,960...133,098,792 		JBrowse link
G Rims3 regulating synaptic membrane exocytosis 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,429,092...134,468,935
Ensembl chr 5:134,435,829...134,640,489 		JBrowse link
G Rlf RLF zinc finger ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,711,612...134,767,274
Ensembl chr 5:134,711,619...134,767,257 		JBrowse link
G Rnf19b ring finger protein 19B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,406,085...141,431,376
Ensembl chr 5:141,406,118...141,431,380 		JBrowse link
G Rnf220 ring finger protein 220 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,739,173...130,961,386
Ensembl chr 5:130,739,183...130,961,418 		JBrowse link
G Rps8 ribosomal protein S8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,630,362...130,632,932
Ensembl chr 5:130,629,716...130,633,268 		JBrowse link
G Rragc Ras-related GTP binding C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,148,239...136,167,773
Ensembl chr 5:136,148,276...136,167,767 		JBrowse link
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933 		JBrowse link
G S100pbp S100P binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:28492532 NCBI chr 5:141,494,352...141,535,752
Ensembl chr 5:141,494,353...141,535,525 		JBrowse link
G Scmh1 Scm polycomb group protein homolog 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,991,167...134,115,893
Ensembl chr 5:133,990,520...134,122,105 		JBrowse link
G Sf3a3 splicing factor 3a, subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,967,713...136,987,345
Ensembl chr 5:136,967,691...136,987,361 		JBrowse link
G Sfpq splicing factor proline and glutamine rich ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,338,034...139,353,476
Ensembl chr 5:139,338,075...139,353,472 		JBrowse link
G Sh3d21 SH3 domain containing 21 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,429,180...138,444,540
Ensembl chr 5:138,429,180...138,444,407 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Slc6a9 solute carrier family 6 member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,374,562...131,408,733
Ensembl chr 5:131,374,542...131,408,728 		JBrowse link
G Slfnl1 schlafen-like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,117,634...134,122,105
Ensembl chr 5:133,990,520...134,122,105 		JBrowse link
G Smap2 small ArfGAP2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,530,542...134,576,938
Ensembl chr 5:134,530,543...134,576,938 		JBrowse link
G Smim12 small integral membrane protein 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,569,367...139,573,276
Ensembl chr 5:139,569,391...139,574,320 		JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,328,371...137,335,846
Ensembl chr 5:137,328,371...137,335,845 		JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810 		JBrowse link
G Stk40 serine/threonine kinase 40 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,380,049...138,417,802
Ensembl chr 5:138,381,159...138,417,796 		JBrowse link
G Svbp small vasohibin binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,808,021...132,813,735
Ensembl chr 5:132,808,204...132,813,735 		JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904 		JBrowse link
G Tekt2 tektin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,619,665...138,623,301
Ensembl chr 5:138,619,667...138,623,204 		JBrowse link
G Tesk2 testis associated actin remodelling kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar