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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 NCBI chr 2:82,591,750...82,602,903
Ensembl chr 2:82,590,630...82,602,930
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
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
Adult Refsum Disease, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 More... NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748
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 Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Alstrom's syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29255176 PMID:31696929 NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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 Hspb8 heat shock protein family B (small) member 8 ISO
ISS
OMIM:158590
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 | 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
OMIM
CTD
ClinVar
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 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 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: 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 PMID:1211842 PMID:7477983 PMID:7580242 PMID:7833935 PMID:7946361 More... NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
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 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:9536098 PMID:11528513 PMID:12372593 PMID:15122254 PMID:16215937 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 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 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: 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
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 Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia
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 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 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 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: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia
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:25741868 PMID:26138142 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 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar Annotator: match by term: NEFH-related condition
CTD
OMIM
ClinVar
PMID:25741868 PMID:27040688 PMID:28492532 PMID:29411640 PMID:29587262 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 Neuropathy Type 2F | 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:9536098 PMID:11528513 PMID:12372593 PMID:15122254 PMID:16087758 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:9585603 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 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 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:257 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2L
OMIM
CTD
ClinVar
PMID:15021985 PMID:15122253 PMID:15565283 PMID:17344846 PMID:20157854 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 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 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 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 disease axonal type 2O
OMIM:614228
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:9781046 PMID:10862709 PMID:12730604 PMID:15826937 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 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 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: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 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 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 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 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 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
OMIM:614436
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Q
OMIM
MouseDO
CTD
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:2545169 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
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: MME-related autosomal dominant Charcot Marie Tooth disease type 2 | ClinVar Annotator: match by term: MME-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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 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 NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524
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 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 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 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2u
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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 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
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
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 PMID:28492532 NCBI chr 5:130,178,715...130,270,594
Ensembl chr 5:130,185,033...130,271,292
JBrowse link
G Tfap2e transcription factor AP-2 epsilon ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,009,447...139,030,695
Ensembl chr 5:139,009,453...139,031,108
JBrowse link
G Thrap3 thyroid hormone receptor associated protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,445,284...138,487,544
Ensembl chr 5:138,445,295...138,487,477
JBrowse link
G Tie1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,000,013...132,019,658
Ensembl chr 5:132,000,015...132,019,592
JBrowse link
G Tmco2 transmembrane and coiled-coil domains 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,664,692...134,669,291
Ensembl chr 5:134,664,692...134,669,291
JBrowse link
G Tmem125 transmembrane protein 125 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,063,162...132,064,566
Ensembl chr 5:132,059,554...132,079,297
Ensembl chr 5:132,059,554...132,079,297
JBrowse link
G Tmem35b transmembrane protein 35B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,446,317...139,449,947
Ensembl chr 5:139,444,399...139,449,947
JBrowse link
G Tmem53 transmembrane protein 53 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,721,780...130,737,692
Ensembl chr 5:130,721,659...130,737,692
JBrowse link
G Tmem54 transmembrane protein 54 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,449,191...141,455,683
Ensembl chr 5:141,449,191...141,455,682
JBrowse link
G Tmem69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,004,888...130,008,466
Ensembl chr 5:130,004,901...130,010,655
JBrowse link
G Toe1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,270,484...130,274,050
Ensembl chr 5:130,262,319...130,274,050
JBrowse link
G Trappc3 trafficking protein particle complex subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,559,238...138,572,825
Ensembl chr 5:138,557,754...138,572,819
JBrowse link
G Trim62 tripartite motif-containing 62 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,230,830...141,260,629
Ensembl chr 5:141,231,523...141,259,915
JBrowse link
G Trit1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,293,472...135,341,522
Ensembl chr 5:135,295,330...135,338,764
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
JBrowse link
G Utp11 UTP11, small subunit processome component ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,931,279...136,946,164
Ensembl chr 5:136,931,008...136,946,191
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO
ISS
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C
OMIM:608323
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:3034524 PMID:9536098 PMID:14606043 PMID:16199547 PMID:16429158 More... NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833
JBrowse link
G Ybx1 Y box binding protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,882,137...132,898,885
Ensembl chr 5:132,882,145...132,898,862
JBrowse link
G Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,110,244...137,115,127
Ensembl chr 5:137,110,279...137,115,120
JBrowse link
G Zc3h12a zinc finger CCCH type containing 12A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
JBrowse link
G Zfp362 zinc finger protein 362 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,119,073...141,153,304
Ensembl chr 5:141,119,898...141,156,716
JBrowse link
G Zfp69 zinc finger protein 69 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,502,002...134,516,428
Ensembl chr 5:134,501,998...134,514,358
JBrowse link
G Zfp691 zinc finger protein 691 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,780,259...132,784,954
Ensembl chr 5:132,780,181...132,785,000
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
JBrowse link
G Zmym1 zinc finger MYM-type containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,364,788...139,381,883
Ensembl chr 5:139,364,789...139,381,873
JBrowse link
G Zmym4 zinc finger MYM-type containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,146,782...139,264,387
Ensembl chr 5:139,146,665...139,264,421
JBrowse link
G Zmym6 zinc finger MYM-type containing 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,396,374...139,444,357
Ensembl chr 5:139,396,727...139,444,279
JBrowse link
G Zmynd12 zinc finger, MYND-type containing 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,026,917...133,059,985
Ensembl chr 5:133,027,009...133,059,995
JBrowse link
G Zscan20 zinc finger and SCAN domain containing 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,926,596...140,956,285
Ensembl chr 5:140,930,689...140,956,336
JBrowse link
G Zswim5 zinc finger, SWIM-type containing 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,346,733...130,463,791
Ensembl chr 5:130,343,034...130,463,784
JBrowse link
Charcot-Marie-Tooth disease dominant intermediate D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate d
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7505151 PMID:7527371 PMID:7581451 PMID:8664899 PMID:8816708 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate D ClinVar PMID:16987171 PMID:25741868 PMID:28492532 PMID:34008892 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
JBrowse link
Charcot-Marie-Tooth disease dominant intermediate E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate E
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:6054293 PMID:20023659 PMID:20803156 PMID:21258034 PMID:21866090 More... NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
JBrowse link
Charcot-Marie-Tooth disease dominant intermediate F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb4 G protein subunit beta 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate F
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23434117 PMID:25741868 More... NCBI chr 2:115,360,746...115,400,680
Ensembl chr 2:115,364,918...115,400,579
JBrowse link
Charcot-Marie-Tooth disease dominant intermediate G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate G OMIM
ClinVar
PMID:12477167 PMID:12566280 PMID:14733962 PMID:17052987 PMID:19158810 More... NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
Charcot-Marie-Tooth disease intermediate type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap276 cilia and flagella associated protein 276 ISS MouseDO NCBI chr 2:196,166,009...196,177,919
Ensembl chr 2:196,166,009...196,177,919
JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease ClinVar PMID:7581380 PMID:7951215 PMID:8533761 PMID:8571958 PMID:17932099 More... NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:28492532 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 PMID:32376792 NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease ClinVar NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:28492532 NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833
JBrowse link
Charcot-Marie-Tooth disease recessive intermediate A 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 recessive intermediate A ClinVar PMID:25326637 PMID:28492532 NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate A
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11743580 PMID:12499475 PMID:12566285 PMID:14561495 PMID:16172208 More... NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
JBrowse link
Charcot-Marie-Tooth disease recessive intermediate B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars1 lysyl-tRNA synthetase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B
OMIM
CTD
ClinVar
PMID:20920668 PMID:23596069 PMID:24033266 PMID:25356970 PMID:25741868 More... NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632
JBrowse link
Charcot-Marie-Tooth disease recessive intermediate C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate C
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16199547 PMID:17564964 PMID:23777631 PMID:23844677 PMID:25741868 More... NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
JBrowse link
Charcot-Marie-Tooth disease recessive intermediate D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox6a1 cytochrome c oxidase subunit 6A1 ISO
ISS
OMIM:616039
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate D
OMIM
MouseDO
CTD
ClinVar
PMID:25152455 PMID:25741868 PMID:26302975 PMID:28492532 NCBI chr12:41,261,983...41,265,037
Ensembl chr12:41,261,967...41,265,041
JBrowse link
Charcot-Marie-Tooth disease type 1 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, type I ClinVar NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
JBrowse link
G Cdrt4 CMT1A duplicated region transcript 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:1303230 PMID:1677316 PMID:1822787 PMID:28492532 NCBI chr10:47,625,470...47,657,493
Ensembl chr10:47,625,470...47,657,493
JBrowse link
G Cfap126 cilia and flagella associated protein 126 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr13:83,526,657...83,542,552
Ensembl chr13:83,526,657...83,542,552
JBrowse link
G Dusp12 dual specificity phosphatase 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr13:83,122,192...83,131,800
Ensembl chr13:83,122,193...83,131,285
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:25741868 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, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 ClinVar PMID:9537424 PMID:10369870 PMID:10371530 PMID:10502832 PMID:10762521 More... NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fcgr2b Fc gamma receptor 2B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778
JBrowse link
G Fcgr3a Fc gamma receptor 3A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Fcrla Fc receptor-like A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr13:83,160,453...83,170,170
Ensembl chr13:83,160,398...83,170,762
JBrowse link
G Fcrlb Fc receptor-like B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr13:83,148,685...83,157,157
Ensembl chr13:83,149,751...83,155,957
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:25741868 PMID:28492532 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 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
JBrowse link
G Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:1303230 PMID:1677316 PMID:1822787 PMID:12207933 PMID:20493460 More... NCBI chr10:48,561,473...48,593,970
Ensembl chr10:48,561,473...48,593,970
JBrowse link
G Hspa6l-ps1 heat shock protein family A (Hsp70) member 6 like, pseudogene 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr13:83,273,176...83,274,317 JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:25439726 PMID:26922252 PMID:28492532 NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
JBrowse link
G Jmjd1c jumonji domain containing 1C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122
JBrowse link
G Kap kidney androgen regulated protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:1303230 PMID:1677316 PMID:1822787 PMID:28492532 NCBI chr 4:166,674,595...166,677,639
Ensembl chr 4:166,674,595...166,677,639
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr10:4,656,308...4,692,981
Ensembl chr10:4,625,552...4,692,763
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar 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, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 ClinVar PMID:1053307 PMID:3467805 PMID:6099985 PMID:7504284 PMID:7505151 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:12566280 PMID:22765307 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Nrbf2 nuclear receptor binding factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr20:21,308,555...21,326,881
Ensembl chr20:21,308,576...21,326,818
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 ClinVar PMID:1303230 PMID:1303281 PMID:1552943 PMID:1564512 PMID:1677316 More... NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:25614874 More... NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
JBrowse link
G Ralgdsl6 ral guanine nucleotide dissociation stimulator like 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:1303230 PMID:1677316 PMID:1822787 PMID:12207933 PMID:20493460 More... NCBI chr16:11,203,355...11,209,558 JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 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 Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 PMID:32122354 NCBI chr10:102,409,798...102,579,056
Ensembl chr10:102,409,711...102,579,055
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:16199547 PMID:20220177 PMID:25741868 PMID:27068304 PMID:28492532 NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
JBrowse link
G Tekt3 tektin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:1303230 PMID:1677316 PMID:1822787 PMID:28492532 NCBI chr10:47,729,635...47,763,589
Ensembl chr10:47,729,635...47,763,588
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
Charcot-Marie-Tooth disease type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdrt4 CMT1A duplicated region transcript 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:47,625,470...47,657,493
Ensembl chr10:47,625,470...47,657,493
JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667
JBrowse link
G Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:48,561,473...48,593,970
Ensembl chr10:48,561,473...48,593,970
JBrowse link
G Kap kidney androgen regulated protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr 4:166,674,595...166,677,639
Ensembl chr 4:166,674,595...166,677,639
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: HMSN 1A 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
Ensembl chr MT:7,919...8,599
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
ISS
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA | ClinVar Annotator: match by term: HMSN 1A
OMIM:118220
OMIM
ClinVar
MouseDO
PMID:475348 PMID:1301995 PMID:1303281 PMID:1349106 PMID:1552536 More... NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
G Ralgdsl6 ral guanine nucleotide dissociation stimulator like 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr16:11,203,355...11,209,558 JBrowse link
G Tekt3 tektin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:47,729,635...47,763,589
Ensembl chr10:47,729,635...47,763,588
JBrowse link
Charcot-Marie-Tooth disease type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO
ISS
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1b | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IB | ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IB
OMIM:118200
OMIM
ClinVar
MouseDO
PMID:7504284 PMID:7505151 PMID:7506095 PMID:7511317 PMID:7527371 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B ClinVar PMID:26378787 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B ClinVar PMID:25741868 PMID:28492532 NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
JBrowse link
Charcot-Marie-Tooth disease type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Atf7ip2 activating transcription factor 7 interacting protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,403,099...5,445,989
Ensembl chr10:5,403,105...5,446,142
JBrowse link
G Carhsp1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:6,946,036...6,960,556
Ensembl chr10:6,946,959...7,020,019
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578
JBrowse link
G Dexi Dexi homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,126,021...5,138,746
Ensembl chr10:5,137,288...5,138,738
JBrowse link
G Emp2 epithelial membrane protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,360,073...5,394,734
Ensembl chr10:5,360,073...5,394,733
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Hapstr1 HUWE1 associated protein modifying stress responses ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:6,746,037...6,774,992
Ensembl chr10:6,746,048...6,774,992
JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO
ISS
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C
OMIM:601098
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:1407588 PMID:2239969 PMID:9536098 PMID:12525712 PMID:15122712 More... NCBI chr10:4,656,308...4,692,981
Ensembl chr10:4,625,552...4,692,763
JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, Type 1C ClinVar PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:18023247 More... NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Nubp1 NUBP iron-sulfur cluster assembly factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,259,328...5,270,848 JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
JBrowse link
G Prm1 protamine 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,871,817...4,872,312 JBrowse link
G Prm2 protamine 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,876,285...4,877,026
Ensembl chr10:4,873,372...4,877,026
JBrowse link
G Prm3 protamine 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,877,471...4,877,985
Ensembl chr10:4,877,471...4,877,985
JBrowse link
G Rmi2 RecQ mediated genome instability 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,829,333...4,837,264
Ensembl chr10:4,830,553...4,837,235
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
JBrowse link
G Tekt5 tektin 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,279,856...5,316,619
Ensembl chr10:5,279,893...5,316,619
JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256
JBrowse link
G Tnp2 transition protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,879,812...4,880,540
Ensembl chr10:4,879,812...4,880,538
JBrowse link
G Tvp23a trans-golgi network vesicle protein 23 homolog A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,227,198...5,263,185
Ensembl chr10:5,227,220...5,263,180
JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:6,880,684...6,925,355
Ensembl chr10:6,828,795...6,925,355
JBrowse link
Charcot-Marie-Tooth disease type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1d | ClinVar Annotator: match by term: HMSN 1D
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9537424 PMID:10369870 PMID:10371530 PMID:10502832 PMID:10762521 More... NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
JBrowse link
Charcot-Marie-Tooth disease type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: DEAFNESS WITH CHARCOT-MARIE-TOOTH DISEASE ClinVar PMID:12402337 PMID:15241803 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
ISS
OMIM:118300
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E
OMIM
MouseDO
CTD
ClinVar
PMID:7139106 PMID:7829101 PMID:8995589 PMID:9324088 PMID:9544841 More... NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
Charcot-Marie-Tooth disease type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2288874 PMID:12477167 PMID:12481988 PMID:12566280 PMID:15111691 More... NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
Charcot-Marie-Tooth disease type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pmp2 peripheral myelin protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1G OMIM
ClinVar
PMID:23806086 PMID:24088041 PMID:25741868 PMID:26257172 PMID:26828946 More... NCBI chr 2:91,611,334...91,615,252
Ensembl chr 2:91,611,334...91,615,252
JBrowse link
Charcot-Marie-Tooth Disease Type 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1H | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION OMIM
ClinVar
PMID:16652333 PMID:21576112 PMID:23328402 PMID:25741868 PMID:28332470 More... NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
JBrowse link
Charcot-Marie-Tooth Disease Type 1I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1I | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1I OMIM
ClinVar
PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
JBrowse link
Charcot-Marie-Tooth Disease Type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, TYPE 1J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1J ClinVar
OMIM
PMID:24627108 PMID:25741868 PMID:27549087 PMID:32949214 PMID:36302985 NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337
JBrowse link
Charcot-Marie-Tooth disease type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2510039O18Rikl RIKEN cDNA 2510039O18 gene like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,371,925...158,378,195
Ensembl chr 5:158,371,955...158,378,195
JBrowse link
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar PMID:6492094 PMID:7842019 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
JBrowse link
G Adam15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113
JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
JBrowse link
G Agtrap angiotensin II receptor-associated protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,507,427...158,519,036
Ensembl chr 5:158,508,749...158,519,036
JBrowse link
G Angptl7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,932,096...158,937,281
Ensembl chr 5:158,932,794...158,937,324
JBrowse link
G Aqp1 aquaporin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,402,609...175,407,677
Ensembl chr 2:175,403,263...175,406,815
JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355
JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055
JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:20170900 PMID:25741868 PMID:28389643 PMID:32294113 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,378,514...175,402,265
Ensembl chr 2:175,378,517...175,401,883
JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar PMID:1674639 PMID:5964029 PMID:9536098 PMID:11479539 PMID:11916958 More... NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G C5h1orf127 similar to human chromosome 1 open reading frame 127 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
JBrowse link
G C5h1orf167 similar to human chromosome 1 open reading frame 167 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,495,514...158,505,671 JBrowse link
G Casz1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400
JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,765,701...173,790,353
Ensembl chr 2:173,765,698...173,790,757
JBrowse link
G Cenps centromere protein S ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,563,917...159,573,534 JBrowse link
G Cfap141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,507,628...175,510,662
Ensembl chr 2:175,507,628...175,510,662
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
JBrowse link
G Cks1b CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,833,025...174,837,614
Ensembl chr 2:174,833,050...174,837,636
JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
JBrowse link
G Clk2 CDC-like kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,570,614...174,582,645
Ensembl chr 2:174,570,653...174,588,985
JBrowse link
G Clstn1 calsyntenin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:160,031,235...160,094,585
Ensembl chr 5:160,031,308...160,094,583
JBrowse link
G Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796
JBrowse link
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
JBrowse link
G Cort cortistatin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,560,591...159,562,032 JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,417,004...173,421,352
Ensembl chr 2:173,416,857...173,421,379
JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
JBrowse link
G Ctnnbip1 catenin, beta-interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,961,961...160,010,942
Ensembl chr 5:159,961,928...160,010,939
JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461
JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,765,203...174,784,023
Ensembl chr 2:174,765,350...174,781,806
JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,781,806...174,795,834
Ensembl chr 2:174,781,902...174,795,832
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
JBrowse link
G Ddx19a DEAD-box helicase 19A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,942,497...38,962,853
Ensembl chr19:38,942,496...38,962,854
JBrowse link
G Ddx19b DEAD-box helicase 19B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,968,215...38,998,907
Ensembl chr19:38,968,215...38,997,259
JBrowse link
G Dffa DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,540,715...159,553,639
Ensembl chr 5:159,540,715...159,553,633
JBrowse link
G Disp3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,672,015...158,720,806
Ensembl chr 5:158,672,015...158,720,806
JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:16199547 PMID:22522442 PMID:25274842 PMID:25741868 PMID:28492532 More... NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668
Ensembl chr15:174,676,363...174,677,668
JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,530,149...158,563,457
Ensembl chr 5:158,530,342...158,564,483
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,681,676...174,689,061
Ensembl chr 2:174,681,682...174,690,866
JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,729,192...174,738,111
Ensembl chr 2:174,729,764...174,738,736
JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,748,729...174,752,979
Ensembl chr 2:174,748,724...174,752,979
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:32860008 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,588,984...174,595,281
Ensembl chr 2:174,589,337...174,595,281
JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,995,313...159,018,940
Ensembl chr 5:158,995,313...159,018,940
JBrowse link
G Fbxo2 F-box protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,592,926...158,598,355
Ensembl chr 5:158,592,925...158,598,355
JBrowse link
G Fbxo44 F-box protein 44 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,583,363...158,592,510
Ensembl chr 5:158,583,366...158,592,363
JBrowse link
G Fbxo6 F-box protein 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,576,729...158,582,520
Ensembl chr 5:158,576,759...158,582,525
JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418
JBrowse link
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,819,451...174,828,921
Ensembl chr 2:174,819,453...174,828,977
JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:8872480 PMID:9536098 PMID:10732809 PMID:12690580 PMID:16014653 More... NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776
JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,794,273...173,797,863
Ensembl chr 2:173,794,255...173,799,960
JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634
JBrowse link
G Gpatch4 G patch domain containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,499,700...173,520,346
Ensembl chr 2:173,509,897...173,518,684
JBrowse link
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,488,909...173,496,824
Ensembl chr 2:173,491,160...173,496,588
JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714
JBrowse link
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,551,861...174,567,459
Ensembl chr 2:174,551,680...174,565,966
JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,370,147...173,379,756
Ensembl chr 2:173,370,465...173,379,747
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
JBrowse link
G Hspb3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:32323160 NCBI chr 2:45,295,285...45,295,999
Ensembl chr 2:45,295,053...45,296,145
JBrowse link
G Il34 interleukin 34 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,714,990...38,782,749
Ensembl chr19:38,714,991...38,764,000
JBrowse link
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
G Inmt indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:84,318,197...84,322,493
Ensembl chr 4:84,318,197...84,322,493
JBrowse link
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
JBrowse link
G Iqgap3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,542,151...173,583,956
Ensembl chr 2:173,542,110...173,583,956
JBrowse link
G Isg20l2 interferon stimulated exonuclease gene 20-like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,396,780...173,407,102
Ensembl chr 2:173,396,780...173,406,614
JBrowse link
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145
JBrowse link
G Khdc4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:174,149,059...174,177,816
Ensembl chr 2:174,149,141...174,177,504
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25265257 PMID:25326635 PMID:25741868 PMID:26125038 PMID:26354034 More... NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18334619 PMID:18726616 More... NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:20386726 PMID:25008398 PMID:25741868 PMID:29892902 NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,654,409...174,658,405
Ensembl chr 2:174,654,219...174,658,405
JBrowse link
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:174,008,556...174,011,950
Ensembl chr 2:174,008,548...174,013,013
JBrowse link
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,819,439...174,820,127
Ensembl chr 2:174,819,459...174,820,127
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar PMID:1737707 PMID:1839274 PMID:1849984 PMID:2007407 PMID:2270059 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G LOC120098709 small nucleolar RNA SNORD111 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,815,874...38,815,949
Ensembl chr19:38,815,874...38,815,949
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,928,260...159,941,512
Ensembl chr 5:159,920,439...159,939,685
JBrowse link
G Mad2l2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,563,545...158,576,698
Ensembl chr 5:158,563,567...158,576,693
JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
JBrowse link
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25488817 PMID:25527630 More... NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,606,054...173,635,620
Ensembl chr 2:173,606,490...173,634,457
JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,388,625...173,397,279
Ensembl chr 2:173,388,625...173,397,279
JBrowse link
G Mex3a mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,990,098...173,999,567
Ensembl chr 2:173,989,856...173,997,377
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar PMID:8406488 PMID:9333264 PMID:9409358 PMID:9536098 PMID:10732809 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Miip migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,292,510...158,299,533
Ensembl chr 5:158,292,511...158,299,694
JBrowse link
G Mindy4 MINDY lysine 48 deubiquitinase 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:84,358,660...84,469,189
Ensembl chr 4:84,358,902...84,463,395
JBrowse link
G Mme membrane metallo-endopeptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
JBrowse link
G mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,383,062...173,389,249
Ensembl chr 2:173,383,224...173,389,248
JBrowse link
G Msto1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:174,305,945...174,310,230
Ensembl chr 2:174,301,861...174,310,216
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Mtx1 Metaxin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,615,460...174,621,383
Ensembl chr 2:174,615,461...174,620,982
JBrowse link
G Muc1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,518,971...173,521,036
Ensembl chr 2:173,518,971...173,521,040
JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777
JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
G Nppb natriuretic peptide B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Ns5atp4 NS5A transactivated protein 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,494,406...175,507,281
Ensembl chr 2:175,494,304...175,510,663
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Paqr6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,832,241...173,838,443
Ensembl chr 2:173,833,880...173,838,456
JBrowse link
G Pbxip1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,856,339...174,868,922
Ensembl chr 2:174,856,397...174,868,919
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272
JBrowse link
G Pgd phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,582,746...159,598,945
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
JBrowse link
G Pmf1 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,848,074...173,868,272
Ensembl chr 2:173,848,074...173,868,270
JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
JBrowse link
G Prcc proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,326,261...173,351,799
Ensembl chr 2:173,326,259...173,351,825
JBrowse link
G Pygo2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,849,670...174,854,758
Ensembl chr 2:174,849,936...174,854,758
JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:174,000,323...174,006,422
Ensembl chr 2:174,000,323...174,006,422
JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889
JBrowse link
G Rbp7 retinol binding protein 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,889,723...159,894,338
Ensembl chr 5:159,889,723...159,894,339
JBrowse link
G Rhbg Rh family B glycoprotein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,704,852...173,717,380
Ensembl chr 2:173,704,562...173,717,321
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
JBrowse link
G Rusc1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,487,921...174,497,266
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:174,123,510...174,124,664 JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,583,124...174,588,984
Ensembl chr 2:174,570,653...174,588,985
JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
G Sf3b3 splicing factor 3b, subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,782,749...38,820,271
Ensembl chr19:38,783,040...38,820,245
JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810
JBrowse link
G Shc1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
JBrowse link
G She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,262,431...175,287,807
Ensembl chr 2:175,262,442...175,286,669
JBrowse link
G Slc25a33 solute carrier family 25 member 33 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:160,195,040...160,219,961
Ensembl chr 5:160,195,042...160,219,961
JBrowse link
G Slc25a44 solute carrier family 25, member 44 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,868,317...173,883,137
Ensembl chr 2:173,868,320...173,883,020
JBrowse link
G Slc50a1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,677,985...174,680,366
Ensembl chr 2:174,677,708...174,680,366
JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:30192042 NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
JBrowse link
G Smg5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,804,987...173,832,102
Ensembl chr 2:173,805,019...173,832,102
JBrowse link
G Snord111 small nucleolar RNA, C/D box 111 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,812,486...38,812,574
Ensembl chr19:38,812,486...38,812,574
JBrowse link
G Spsb1 splA/ryanodine receptor domain and SOCS box containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:160,358,292...160,418,541
Ensembl chr 5:160,358,308...160,418,468
JBrowse link
G Srm spermidine synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,025,875...159,029,076
Ensembl chr 5:159,025,873...159,029,405
JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:174,048,291...174,057,043
Ensembl chr 2:174,048,460...174,057,042
JBrowse link
G St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,888,851...38,939,874
Ensembl chr19:38,923,999...38,939,869
JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:174,206,032...174,232,540
Ensembl chr 2:174,206,191...174,231,964
JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
JBrowse link
G Tfg trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar PMID:9536098 PMID:17576681 PMID:22883144 PMID:23479643 PMID:23553329 More... NCBI chr11:43,885,542...43,911,976
Ensembl chr11:43,885,661...43,911,976
JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,621,788...174,633,594
Ensembl chr 2:174,621,812...174,633,594
JBrowse link
G Tmem201 transmembrane protein 201 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:160,166,240...160,188,874
Ensembl chr 5:160,166,427...160,188,843
JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,798,267...173,803,151
Ensembl chr 2:173,798,267...173,803,046
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013
JBrowse link
G Trim46 tripartite motif-containing 46 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,641,494...174,654,237
Ensembl chr 2:174,641,496...174,654,141
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
G Tsacc TSSK6 activating co-chaperone ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,755,841...173,765,564
Ensembl chr 2:173,753,786...173,765,404
JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,525,204...173,533,182
Ensembl chr 2:173,524,600...173,533,107
JBrowse link
G Ubap2l ubiquitin associated protein 2-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,438,703...175,494,085
Ensembl chr 2:175,438,703...175,493,998
JBrowse link
G Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,198,793...175,209,152
Ensembl chr 2:175,198,873...175,207,942
JBrowse link
G Ube4b ubiquitination factor E4B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,766,829...159,870,509
Ensembl chr 5:159,766,829...159,870,509
JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,856,582...158,880,490
Ensembl chr 5:158,868,672...158,880,271
JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:174,012,726...174,028,062
Ensembl chr 2:174,012,777...174,028,059
JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
JBrowse link
G Zbtb7b zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,795,831...174,811,980
Ensembl chr 2:174,797,453...174,814,236
JBrowse link
Charcot-Marie-Tooth disease type 2A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgat2 diacylglycerol O-acyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 ClinVar NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
JBrowse link
G Kif1b kinesin family member 1B ISO
ISS
DNA:missense mutation:cds:p.Q98L (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 | ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1
OMIM:118210
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:9409358 PMID:11389829 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:12738406 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
Charcot-Marie-Tooth Disease Type 2A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 ClinVar PMID:7977350 PMID:8526465 PMID:8981948 PMID:21208200 PMID:21494555 More... NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 ClinVar PMID:23141293 PMID:23141294 PMID:25326637 PMID:25741868 PMID:25860818 More... NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723
JBrowse link
G Mfn2 mitofusin 2 ISO DNA: missense mutations, snp:cds, intron:multiple (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:8406488 PMID:9409358 PMID:10732809 PMID:11148244 PMID:12601114 More... RGD:12738379 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
Charcot-Marie-Tooth disease type 2A2A 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 ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A ClinVar PMID:23141293 PMID:25326637 PMID:25741868 PMID:25860818 PMID:26141459 More... NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A2A OMIM
ClinVar
PMID:8406488 PMID:9409358 PMID:10732809 PMID:15064763 PMID:15549395 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
Charcot-Marie-Tooth disease type 2A2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2A2B | ClinVar Annotator: match by term: Severe early-onset axonal neuropathy due to MFN2 deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8406488 PMID:9409358 PMID:15064763 PMID:15549395 PMID:16043786 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
Charcot-Marie-Tooth disease type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad9 acyl-CoA dehydrogenase family, member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B ClinVar PMID:28492532 NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547
JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B ClinVar PMID:28492532 NCBI chr 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546
JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B
OMIM
CTD
ClinVar
PMID:9536098 PMID:10636124 PMID:11094113 PMID:12545426 PMID:15455439 More... NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889
JBrowse link
Charcot-Marie-Tooth disease type 2B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO
ISS
DNA:missense mutation:cds:p.R298C (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1
OMIM:605588
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:2007407 PMID:2338570 PMID:2526018 PMID:2733290 PMID:2753225 More... RGD:1358482 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
Charcot-Marie-Tooth disease type 2B2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2
CTD
ClinVar
PMID:25488817 PMID:25527630 PMID:25741868 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 Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10446192 PMID:10446193 PMID:11112660 PMID:15385968 PMID:15749016 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
JBrowse link
Charcot-Marie-Tooth disease type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gars1 glycyl-tRNA synthetase 1 ISO
ISS
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D
OMIM:601472
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
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
Charcot-Marie-Tooth disease type 2DD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Charcot-marie-tooth disease, axonal, type 2DD OMIM
ClinVar
PMID:7977350 PMID:8526465 PMID:8981948 PMID:21208200 PMID:21494555 More... NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
JBrowse link
Charcot-Marie-Tooth disease type 2E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca2 cell division cycle associated 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr15:41,895,946...41,942,226
Ensembl chr15:41,895,901...41,941,611
JBrowse link
G Dock5 dedicator of cytokinesis 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr15:41,979,728...42,158,733
Ensembl chr15:41,979,729...42,158,649
JBrowse link
G Ebf2 EBF transcription factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr15:41,435,509...41,634,403
Ensembl chr15:41,435,509...41,634,403
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581
JBrowse link
G Kctd9 potassium channel tetramerization domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr15:41,942,165...41,969,862
Ensembl chr15:41,942,381...41,969,862
JBrowse link
G Nefl neurofilament light chain ISO
ISS
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2E
OMIM:607684
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:2288874 PMID:9536098 PMID:10841809 PMID:11220745 PMID:12393795 More... NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:9040737 PMID:9371959 PMID:9712007 PMID:20301384 PMID:21252112 More... NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
Charcot-Marie-Tooth disease type 2EE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE ClinVar PMID:1852208 PMID:25741868 PMID:28492532 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16582910 PMID:16909392 PMID:17576681 More... NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE ClinVar PMID:17620486 PMID:25741868 PMID:28492532 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Trim54 tripartite motif-containing 54 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE ClinVar PMID:25741868 PMID:28492532 PMID:30298599 NCBI chr 6:25,239,340...25,258,511
Ensembl chr 6:25,239,340...25,258,511
JBrowse link
G Ucn urocortin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE ClinVar PMID:25741868 PMID:28492532 PMID:30298599 NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950
JBrowse link
Charcot-Marie-Tooth disease type 2I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2I
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3467805 PMID:7505151 PMID:7506095 PMID:8664899 PMID:8816708 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I ClinVar PMID:16987171 PMID:25741868 PMID:28492532 PMID:34008892 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
JBrowse link
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8664899 PMID:8816708 PMID:9187667 PMID:9452091 PMID:10071056 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
Charcot-Marie-Tooth disease type 2R term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim2 tripartite motif-containing 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23562820 PMID:23806086 More... NCBI chr 2:169,500,628...169,652,855
Ensembl chr 2:169,500,634...169,652,927
JBrowse link
Charcot-Marie-Tooth disease type 2Y term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2Y | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2y
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15034582 PMID:19237541 PMID:21145000 PMID:21984748 PMID:22270372 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
Charcot-Marie-Tooth disease type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdrt4 CMT1A duplicated region transcript 4 ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr10:47,625,470...47,657,493
Ensembl chr10:47,625,470...47,657,493
JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667
JBrowse link
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-sottas neuropathy, autosomal dominant OMIM
ClinVar
PMID:10369870 PMID:10371530 PMID:11523566 PMID:15947997 PMID:16198564 More... NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Dejerine-Sottas disease ClinVar PMID:9633821 PMID:10737979 PMID:15241803 PMID:15947997 PMID:20301548 More... NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr10:48,561,473...48,593,970
Ensembl chr10:48,561,473...48,593,970
JBrowse link
G Kap kidney androgen regulated protein ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr 4:166,674,595...166,677,639
Ensembl chr 4:166,674,595...166,677,639
JBrowse link
G Mpz myelin protein zero ISO
ISS
ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 3 | ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-Sottas syndrome, autosomal dominant
OMIM:145900
OMIM
ClinVar
MouseDO
PMID:3467805 PMID:6099985 PMID:7506095 PMID:7530550 PMID:7581451 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
ISS
OMIM:145900
ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 3 | ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-Sottas syndrome, autosomal dominant
OMIM
MouseDO
ClinVar
PMID:1552943 PMID:3467805 PMID:7728152 PMID:7825607 PMID:8275092 More... NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Dejerine-Sottas disease OMIM
ClinVar
PMID:11133365 PMID:11157804 PMID:12112076 PMID:15197604 PMID:15469949 More... NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
JBrowse link
G Ralgdsl6 ral guanine nucleotide dissociation stimulator like 6 ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr16:11,203,355...11,209,558 JBrowse link
G Tekt3 tektin 3 ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr10:47,729,635...47,763,589
Ensembl chr10:47,729,635...47,763,588
JBrowse link
Charcot-Marie-Tooth disease type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg1l AFG1 like ATPase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:45,798,344...45,967,997
Ensembl chr20:45,798,349...45,967,906
JBrowse link
G Ak9 adenylate kinase 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:44,724,494...44,941,135
Ensembl chr20:44,724,496...44,941,136
JBrowse link
G Armc2 armadillo repeat containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:45,395,859...45,501,808
Ensembl chr20:45,394,127...45,504,819
JBrowse link
G Bend3 BEN domain containing 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:46,980,246...47,017,059
Ensembl chr20:46,979,831...47,014,671
JBrowse link
G Ccn4 cellular communication network factor 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:12872253 PMID:23996628 PMID:28492532 NCBI chr 7:98,645,238...98,677,253
Ensembl chr 7:98,645,182...98,677,248
JBrowse link
G Cd164 CD164 molecule ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:45,024,051...45,035,628
Ensembl chr20:45,023,973...45,035,634
JBrowse link
G Cep57l1 centrosomal protein 57-like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:45,238,039...45,294,575
Ensembl chr20:45,238,044...45,294,540
JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 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 Fgd4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 ClinVar PMID:9536098 PMID:15744041 PMID:16199547 PMID:17564959 PMID:17564972 More... NCBI chr11:84,399,989...84,551,013
Ensembl chr11:84,399,816...84,546,972
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 More... NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
JBrowse link
G Foxo3 forkhead box O3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:11743580 PMID:25741868 PMID:28492532 PMID:31673878 NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:15549395 PMID:16437557 PMID:16762064 PMID:16835246 PMID:17444508 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:44,974,137...44,986,089
Ensembl chr20:44,974,138...44,986,089
JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
JBrowse link
G Mtmr2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 ClinVar PMID:8190646 PMID:9536098 PMID:10802647 PMID:10856930 PMID:11283303 More... NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172
JBrowse link
G Mtres1 mitochondrial transcription rescue factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:47,022,343...47,038,888
Ensembl chr20:47,022,342...47,038,805
JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 ClinVar PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More... NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
JBrowse link
G Nr2e1 nuclear receptor subfamily 2, group E, member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:46,050,134...46,071,257
Ensembl chr20:46,050,414...46,073,949
JBrowse link
G Ostm1 osteoclastogenesis associated transmembrane protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:46,071,657...46,187,049
Ensembl chr20:46,153,075...46,187,023
JBrowse link
G Pdss2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708
JBrowse link
G Phf20l1 PHD finger protein 20-like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr 7:98,330,580...98,396,526
Ensembl chr 7:98,330,580...98,396,526
JBrowse link
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 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 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 Ppil6 peptidylprolyl isomerase like 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:44,989,509...45,017,833
Ensembl chr20:44,988,943...45,018,340
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy
ClinVar PMID:2758284 PMID:9536098 PMID:10848494 PMID:11133365 PMID:11157804 More... NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
JBrowse link
G Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:47,357,206...47,382,160
Ensembl chr20:47,357,216...47,382,135
JBrowse link
G Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338
JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28005197 PMID:28492532 PMID:28902413 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 type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 PMID:15477569 More... NCBI chr 1:164,352,892...164,719,883
Ensembl chr 1:164,353,444...164,719,807
JBrowse link
G Scml4 Scm polycomb group protein like 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:46,347,350...46,441,246
Ensembl chr20:46,347,413...46,440,103
JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055
JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr10:102,409,798...102,579,056
Ensembl chr10:102,409,711...102,579,055
JBrowse link
G Sesn1 sestrin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:45,294,876...45,387,698
Ensembl chr20:45,294,871...45,387,697
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:3000192 PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 More... NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
JBrowse link
G Sla src-like adaptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:12872253 PMID:23996628 PMID:28492532 NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648
JBrowse link
G Smpd2 sphingomyelin phosphodiesterase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:44,986,229...44,989,343
Ensembl chr20:44,986,231...44,989,441
JBrowse link
G Snx3 sorting nexin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:45,992,446...46,025,361
Ensembl chr20:45,992,720...46,025,379
JBrowse link
G Sobp sine oculis binding protein homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:46,482,265...46,661,452
Ensembl chr20:46,482,765...46,663,541
JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:12872253 PMID:23996628 PMID:28492532 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
JBrowse link
G Tmem71 transmembrane protein 71 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr 7:98,276,975...98,323,161
Ensembl chr 7:98,276,975...98,315,858
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:25741868 PMID:28492532 PMID:32376792 NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
G Zbtb24 zinc finger and BTB domain containing 24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:44,943,302...44,965,329
Ensembl chr20:44,947,297...44,963,963
JBrowse link
Charcot-Marie-Tooth disease type 4A 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 ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, autosomal recessive
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, frameshift mutation:cds:p.Q163X, p.S194X, p.T288fsX290 (human)
DNA:nonsense mutations, missense mutation:cds:p.W31X, p.S194X, p.R161H (human)
OMIM
ClinVar
CTD
RGD
PMID:257 PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 More... RGD:12738393, RGD:12738391 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 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 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 type 4A ClinVar PMID:28492532 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 type 4A ClinVar PMID:28492532 NCBI chr 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729
JBrowse link
Charcot-Marie-Tooth Disease Type 4A, Axonal Form 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, axonal, with vocal cord paresis, autosomal recessive ClinVar PMID:25326637 PMID:28492532 NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22781092 PMID:27686364 NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
JBrowse link
Charcot-Marie-Tooth disease type 4B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtmr2 myotubularin related protein 2 ISO
ISS
OMIM:601382
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1
OMIM
MouseDO
CTD
ClinVar
PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:17576681 More... NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172
JBrowse link
Charcot-Marie-Tooth disease type 4B2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sbf2 SET binding factor 2 ISO
ISS
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
OMIM:604563
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More... NCBI chr 1:164,352,892...164,719,883
Ensembl chr 1:164,353,444...164,719,807
JBrowse link
Charcot-Marie-Tooth disease type 4B3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp6r2 protein phosphatase 6, regulatory subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 ClinVar PMID:23749797 PMID:33987933 NCBI chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395
JBrowse link
G Sbf1 SET binding factor 1 ISO
ISS
OMIM:615284
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 | ClinVar Annotator: match by term: SBF1-related condition
OMIM
MouseDO
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21210780 PMID:23749797 More... NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
JBrowse link
Charcot-Marie-Tooth disease type 4C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO
ISS
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C | ClinVar Annotator: match by term: CMT 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C
OMIM:601596
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 More... NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
JBrowse link
Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndrg1 N-myc downstream regulated 1 ISO
ISS
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D
OMIM:601455
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More... NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
JBrowse link
Charcot-Marie-Tooth disease type 4E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egr2 early growth response 2 ISO
ISS
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E
OMIM:605253
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9537424 PMID:10369870 PMID:12736090 PMID:17717711 PMID:20301384 More... NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenital ClinVar PMID:7527371 PMID:8664899 PMID:9187667 PMID:10737979 PMID:11545686 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Hypomyelination, severe congenital ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
JBrowse link
Charcot-Marie-Tooth disease type 4F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prx periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F | ClinVar Annotator: match by term: PRX-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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
Charcot-Marie-Tooth disease type 4G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hk1 hexokinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4G | ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, Russe type
OMIM
CTD
ClinVar
PMID:9536098 PMID:10915613 PMID:11601496 PMID:17576681 PMID:19536174 More... NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131
JBrowse link
Charcot-Marie-Tooth disease type 4H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgd4 FYVE, RhoGEF and PH domain containing 4 ISO
ISS
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4H
OMIM:609311
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:15744041 PMID:17564959 PMID:17564972 PMID:17576681 More... NCBI chr11:84,399,989...84,551,013
Ensembl chr11:84,399,816...84,546,972
JBrowse link
Charcot-Marie-Tooth disease type 4J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO
ISS
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J
OMIM:611228
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 More... NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
JBrowse link
Charcot-Marie-Tooth disease type 4K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10443880 PMID:12026244 PMID:12515039 PMID:12943968 PMID:16326995 More... NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
JBrowse link
Charcot-Marie-Tooth disease type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 5 ClinVar NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
Charcot-Marie-Tooth disease type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO DNA:missense mutations, nonsense mutation:cds:multiple
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6 | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:8406488 PMID:15064763 PMID:15549395 PMID:16043786 PMID:16437557 More... RGD:1601409 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY ClinVar PMID:25741868 PMID:31673878 NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY ClinVar NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISS OMIM:601152 | OMIM:616505 MouseDO NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314
JBrowse link
Charcot-Marie-Tooth Disease Type 6A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6A | ClinVar Annotator: match by term: HMSN VIA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY OMIM
ClinVar
PMID:9409358 PMID:10732809 PMID:15064763 PMID:15549395 PMID:16043786 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
Charcot-Marie-Tooth Disease Type 6B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a46 solute carrier family 25, member 46 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6B | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 More... NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314
JBrowse link
Charcot-Marie-Tooth disease type X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:3856385 PMID:9536098 PMID:17576681 PMID:20362274 PMID:20818383 More... NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Atg4a autophagy related 4A, cysteine peptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:104,665,345...104,765,271
Ensembl chr  X:104,665,345...104,765,268
JBrowse link
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:103,459,870...103,473,794
Ensembl chr  X:103,459,780...103,474,838
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500
JBrowse link
G Dnaaf6 dynein axonemal assembly factor 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:103,724,419...103,775,633
Ensembl chr  X:103,731,857...103,775,629
JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type X ClinVar PMID:23999528 PMID:25741868 PMID:26227883 PMID:29473052 PMID:31217940 NCBI chr  X:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684
JBrowse link
G Frmpd3 FERM and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:103,964,168...104,113,864
Ensembl chr  X:104,043,194...104,111,968
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:1211842 PMID:7477983 PMID:7580242 PMID:7833935 PMID:7946361 More... NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Gucy2f guanylate cyclase 2F ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:105,710,356...105,808,183
Ensembl chr  X:105,710,356...105,808,183
JBrowse link
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:105,344,020...105,360,004 JBrowse link
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:105,930,398...105,931,013
Ensembl chr  X:105,930,398...105,931,013
JBrowse link
G Mid2 midline 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:104,354,692...104,456,757
Ensembl chr  X:104,355,316...104,453,473
JBrowse link
G Morc4 MORC family CW-type zinc finger 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:103,477,366...103,529,026
Ensembl chr  X:103,480,603...103,528,956
JBrowse link
G Nup62cl nucleoporin 62 C-terminal like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:103,668,458...103,724,957
Ensembl chr  X:103,668,455...103,724,081
JBrowse link
G Nxt2 nuclear transport factor 2-like export factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:105,855,616...105,862,902
Ensembl chr  X:105,855,608...105,862,899
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X | ClinVar Annotator: match by term: Charcot-Marie-Tooth, X-linked ClinVar PMID:8702702 PMID:8968763 PMID:17701900 PMID:20021999 PMID:20301731 More... NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187
JBrowse link
G Psmd10 proteasome 26S subunit, non-ATPase 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:104,656,809...104,665,122
Ensembl chr  X:104,656,812...104,665,097
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:3856385 PMID:9536098 PMID:17576681 PMID:20362274 PMID:20818383 More... NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378
JBrowse link
G Rbm41 RNA binding motif protein 41 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:103,605,732...103,660,381
Ensembl chr  X:103,608,585...103,660,381
JBrowse link
G Ripply1 ripply transcriptional repressor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:103,436,731...103,440,904
Ensembl chr  X:103,436,729...103,443,349
JBrowse link
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:103,319,181...103,407,137
Ensembl chr  X:103,319,340...103,407,133
JBrowse link
G Tex13b testis expressed 13B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:104,490,937...104,511,224
Ensembl chr  X:104,490,091...104,494,201
JBrowse link
G Tsc22d3 TSC22 domain family, member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:104,217,898...104,277,886
Ensembl chr  X:104,217,925...104,276,861
JBrowse link
G Vsig1 V-set and immunoglobulin domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:104,607,031...104,640,128
Ensembl chr  X:104,607,031...104,639,249
JBrowse link
Charcot-Marie-Tooth disease X-linked dominant 1 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: X-linked Charcot-Marie-Tooth disease type 1 ClinVar PMID:22522442 PMID:25741868 PMID:26752306 PMID:27083531 PMID:28492532 NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO
ISS
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 | ClinVar Annotator: match by term: GJB1-related condition | ClinVar Annotator: match by term: X-linked Charcot-Marie-Tooth disease type 1
OMIM:302800
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:427531 PMID:1211842 PMID:7477983 PMID:7580242 PMID:7946361 More... NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 ClinVar PMID:18465152 PMID:20876471 PMID:25741868 PMID:28492532 NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
JBrowse link
Charcot-Marie-Tooth disease X-linked dominant 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 6 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23297365 PMID:25741868 More... NCBI chr  X:58,486,699...58,553,533
Ensembl chr  X:58,486,554...58,553,557
JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation ClinVar PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378
JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 More... NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187
JBrowse link
Charcot-Marie-Tooth disease, axonal type 2W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hars1 histidyl-tRNA synthetase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2w
OMIM
CTD
ClinVar
PMID:22930593 PMID:25741868 PMID:26072516 PMID:26752306 PMID:27353947 More... NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740
JBrowse link
Charcot-Marie-Tooth Disease, Dominant Intermediate 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate 1 ClinVar PMID:2734399 PMID:16227997 PMID:17636067 PMID:18414213 PMID:18560793 More... NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
JBrowse link
Charcot-Marie-Tooth Disease, Dominant Intermediate 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate 3 ClinVar PMID:7527371 PMID:8664899 PMID:8816708 PMID:9187667 PMID:9888385 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
Charcot-Marie-Tooth Disease, Type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A | ClinVar Annotator: match by term: HMSN IIA
ClinVar
RGD
PMID:16043786 PMID:18316077 PMID:18458227 PMID:20008656 PMID:20350294 More... RGD:1601408 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
congenital vertical talus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd10 homeo box D10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital vertical talus
OMIM
CTD
ClinVar
PMID:15146389 PMID:16450407 PMID:25741868 NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
JBrowse link
early-onset dystonia and/or spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5mc3 ATP synthase membrane subunit c locus 3 ISO ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia OMIM
ClinVar
PMID:19006192 PMID:34636445 PMID:34954817 NCBI chr 3:58,810,535...58,813,185
Ensembl chr 3:58,810,535...58,814,279
JBrowse link
Giant Axonal Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gan gigaxonin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Giant axonal neuropathy
CTD
ClinVar
PMID:14718689 PMID:16565160 PMID:17578852 PMID:28492532 NCBI chr19:45,207,783...45,265,066
Ensembl chr19:45,207,184...45,254,107
JBrowse link
giant axonal neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atmin ATM interactor ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:44,996,506...45,013,606
Ensembl chr19:44,996,356...45,013,605
JBrowse link
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101
JBrowse link
G C19h16orf46 similar to human chromosome 16 open reading frame 46 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:45,017,499...45,033,453
Ensembl chr19:45,022,280...45,032,683
JBrowse link
G Cdyl2 chromodomain Y-like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:44,591,734...44,783,258
Ensembl chr19:44,597,459...44,783,022
JBrowse link
G Cenpn centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:44,971,265...44,994,019
Ensembl chr19:44,968,308...44,994,012
JBrowse link
G Cmc2 C-x(9)-C motif containing 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:44,943,283...44,971,930
Ensembl chr19:44,943,285...44,971,983
JBrowse link
G Gan gigaxonin ISO
ISS
OMIM:256850
ClinVar Annotator: match by term: Giant axonal neuropathy 1
OMIM
MouseDO
ClinVar
PMID:2153943 PMID:9536098 PMID:11053687 PMID:11062483 PMID:11971098 More... NCBI chr19:45,207,783...45,265,066
Ensembl chr19:45,207,184...45,254,107
JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792
JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532
JBrowse link
giant axonal neuropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcaf8 DDB1 and CUL4 associated factor 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Giant axonal neuropathy 2
OMIM
CTD
ClinVar
PMID:3859241 PMID:24500646 PMID:25741868 PMID:28492532 NCBI chr13:84,609,838...84,667,025
Ensembl chr13:84,610,248...84,669,726
JBrowse link
Hereditary Motor and Sensory Neuropathy, Okinawa Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfg trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:22883144 PMID:23479643 PMID:23553329 More... NCBI chr11:43,885,542...43,911,976
Ensembl chr11:43,885,661...43,911,976
JBrowse link
hereditary neuropathy with liability to pressure palsies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Hereditary liability to pressure palsies ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
JBrowse link
G Cdrt4 CMT1A duplicated region transcript 4 ISO ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr10:47,625,470...47,657,493
Ensembl chr10:47,625,470...47,657,493
JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667
JBrowse link
G Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 ISO ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr10:48,561,473...48,593,970
Ensembl chr10:48,561,473...48,593,970
JBrowse link
G Kap kidney androgen regulated protein ISO ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr 4:166,674,595...166,677,639
Ensembl chr 4:166,674,595...166,677,639
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hereditary liability to pressure palsies ClinVar PMID:16288874 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
ISS
ClinVar Annotator: match by term: Hereditary Neuropathy with Liability to Pressure Palsies | ClinVar Annotator: match by term: Hereditary liability to pressure palsies | ClinVar Annotator: match by term: Tomaculous neuropathy
OMIM:162500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:7649472 PMID:7825607 PMID:8012388 PMID:8252046 PMID:8422677 More... NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
G Ralgdsl6 ral guanine nucleotide dissociation stimulator like 6 ISO ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr16:11,203,355...11,209,558 JBrowse link
G Tekt3 tektin 3 ISO ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr10:47,729,635...47,763,589
Ensembl chr10:47,729,635...47,763,588
JBrowse link
Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cct5 chaperonin containing TCP1 subunit 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
OMIM
CTD
ClinVar
PMID:9536098 PMID:16399879 PMID:17576681 PMID:25124038 PMID:25345891 More... NCBI chr 2:82,591,750...82,602,903
Ensembl chr 2:82,590,630...82,602,930
JBrowse link
Hereditary Spastic Paralysis, Infantile Onset Ascending term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11586297 PMID:11586298 PMID:12145748 PMID:12509863 More... NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis ClinVar PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis ClinVar PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
JBrowse link
hereditary spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16a abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Complex hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927
JBrowse link
G Adam28 ADAM metallopeptidase domain 28 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr15:43,774,463...43,840,726
Ensembl chr15:42,944,467...43,840,672
JBrowse link
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:26026163 RGD:13434921 NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:14676054 PMID:17576681 PMID:18852346 PMID:20077034 More... NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:28832565 NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271
JBrowse link
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 More... NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531
JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:26350204 PMID:26544806 PMID:28492532 NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:24700674 More... NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
JBrowse link
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:26350204 PMID:28492532 NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289
JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO DNA:mutations: :
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:20613862 PMID:24033266 PMID:24833714 More... RGD:9684952 NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511
JBrowse link
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524
JBrowse link
G Arsi arylsulfatase family, member I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr18:54,364,160...54,371,772
Ensembl chr18:54,364,088...54,371,767
JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:15596607 More... NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23664116 PMID:25741868 PMID:26467025 PMID:27549087 PMID:28492532 More... NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
JBrowse link
G Borcs7 BLOC-1 related complex subunit 7 ISS MouseDO NCBI chr 1:245,564,347...245,578,182
Ensembl chr 1:245,564,369...245,579,343
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO SPG17, OMIM:270685, DNA:point mutation:exon:N88S
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar
RGD
PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15126564 More... RGD:1600602 NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21981780 PMID:23269600 PMID:24361204 PMID:25558065 PMID:25741868 More... NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208
JBrowse link
G Cct5 chaperonin containing TCP1 subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 2:82,591,750...82,602,903
Ensembl chr 2:82,590,630...82,602,930
JBrowse link
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177
JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:14660610 PMID:23176821 PMID:25741868 PMID:28492532 PMID:29034544 More... NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
CTD
ClinVar
PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 More... NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
JBrowse link
G Ddhd1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23176821 PMID:24989667 PMID:25741868 PMID:26944165 PMID:27216551 More... NCBI chr15:18,824,389...18,891,036
Ensembl chr15:18,824,394...18,890,952
JBrowse link
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:23176823 PMID:24337409 PMID:24517879 More... NCBI chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023
JBrowse link
G Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 5:154,073,372...154,106,246
Ensembl chr 5:154,075,261...154,106,136
JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
JBrowse link
G Erlin1 ER lipid raft associated 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 1:242,921,147...242,956,472
Ensembl chr 1:242,921,152...242,956,394
JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:28492532 PMID:28832565 PMID:32147972 NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:24033266 PMID:24299421 PMID:24833714 PMID:25741868 More... NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Flrt1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:204,275,785...204,292,844
Ensembl chr 1:204,275,367...204,353,750
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:20593214 PMID:23332916 PMID:23332917 PMID:25741868 PMID:26220345 More... NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18094336 PMID:20442743 PMID:21959080 PMID:22351697 PMID:22833003 More... NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 susceptibility ISO DNA:missense mutation: :p.V72I
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar
RGD
PMID:11898127 PMID:18414213 PMID:22552817 PMID:24033266 PMID:25741868 More... RGD:1624200, RGD:1624200 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
G Kif1a kinesin family member 1A ISO DNA:missense mutations: :p.V8M, p.I27T (human)
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:21376300 PMID:25265257 PMID:25585697 More... RGD:12911231 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:26633545 More... NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:15452312 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 More... NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 8:103,086,959...103,126,305
Ensembl chr 8:103,086,630...103,126,024
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9195224 PMID:9268105 PMID:10797421 PMID:11438988 PMID:11772994 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
JBrowse link
G Macrod1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:204,246,238...204,387,027
Ensembl chr 1:204,246,166...204,389,716
JBrowse link
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 PMID:31402626 NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
JBrowse link
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 More... NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
JBrowse link
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
JBrowse link
G Myt1 myelin transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 3:168,890,466...168,950,341
Ensembl chr 3:168,886,089...168,950,341
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 More... NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790
JBrowse link
G Nrg1 neuregulin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464
JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:10319897 PMID:15712223 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
CTD
ClinVar
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20382209 PMID:20603202 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia
ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 More... NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:11992261 PMID:12325025 PMID:12634870 PMID:12717436 PMID:12960218 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr18:27,885,071...27,905,509
Ensembl chr18:27,884,556...27,905,513
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:10319897 PMID:15712223 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701
JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:16199547 PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 More... 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: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 2:76,335,609...76,474,817
Ensembl chr 2:76,335,609...76,493,898
JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar PMID:10610707 PMID:10655055 PMID:11788093 PMID:14718706 PMID:15156359 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:9536098 PMID:17096168 PMID:17159128 PMID:17576681 PMID:18058631 More... NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:20301789 PMID:23568789 PMID:24265446 PMID:24721225 More... NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952
JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:24583203 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35588347 NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
JBrowse link
G Spart spartin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23699601 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:139,292,630...139,319,248
Ensembl chr 2:139,292,355...139,319,248
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:9536098 PMID:10610178 PMID:10699187 PMID:11015453 PMID:11039577 More... NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive 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
G Spg21 SPG21 abhydrolase domain containing, maspardin susceptibility ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar
RGD
PMID:14564668 PMID:16199547 PMID:25741868 PMID:26467025 PMID:28492532 More... RGD:1556574 NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:23176824 PMID:25590979 PMID:25741868 More... NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21689831 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35982159 NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
JBrowse link
G Usp50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 NCBI chr 3:114,012,104...114,035,468
Ensembl chr 3:114,011,702...114,035,476
JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
JBrowse link
G Vps37a VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:51,736,170...51,775,384
Ensembl chr16:51,737,481...51,775,390
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:17160902 PMID:20301727 PMID:20833645 PMID:23085491 PMID:24215330 More... NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103
JBrowse link
G Wdr48 WD repeat domain 48 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 8:119,622,053...119,655,264
Ensembl chr 8:119,622,048...119,655,264
JBrowse link
G Zfr zinc finger RNA binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 2:61,137,611...61,200,322
Ensembl chr 2:61,137,611...61,200,322
JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar PMID:6944241 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18394578 More... NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480
JBrowse link
hereditary spastic paraplegia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R280C (human)
DNA:missense mutation:cds:p.L259Q (human)
DNA:missense mutation, nonsense mutation:cds:p.L249V, p.R864* (human)
DNA:missense mutation:cds:p.R162W (human)
DNA:missense mutation:cds:p.N256S (human)
DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A (human)
ClinVar
OMIM
CTD
RGD
PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... RGD:12793060, RGD:12859091, RGD:12859090, RGD:12793069, RGD:12793068, RGD:12793065, RGD:12793061 NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790
JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069
JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:26467025 PMID:28492532 NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103
JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 1:240,979,831...241,003,193
Ensembl chr 1:240,979,842...241,003,193
JBrowse link
hereditary spastic paraplegia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:19105190 PMID:20110243 PMID:22154821 PMID:26556829 PMID:28492532 NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM ClinVar PMID:21507300 PMID:23053473 PMID:24069319 PMID:25741868 PMID:28492532 NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO
ISS
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum
OMIM:604360
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum
ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum
OMIM
ClinVar
MouseDO
CTD
PMID:2223744 PMID:2795747 PMID:9536098 PMID:16199547 PMID:16773502 More... NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr 3:46,350,237...46,368,397
Ensembl chr 3:46,351,213...46,361,041
JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037
JBrowse link
hereditary spastic paraplegia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtn2 reticulon 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 12
OMIM
CTD
ClinVar
PMID:10677333 PMID:12427890 PMID:22232211 PMID:25741868 PMID:26467025 More... NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069
JBrowse link
hereditary spastic paraplegia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO
ISS
OMIM:605280
ClinVar Annotator: match by term: Hereditary spastic paraplegia 13
CTD Direct Evidence: marker/mechanism
OMIM
MouseDO
ClinVar
CTD
RGD
PMID:10677329 PMID:12483302 PMID:17420924 PMID:18414213 PMID:18571143 More... RGD:10402832 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
hereditary spastic paraplegia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfyve26 zinc finger FYVE-type containing 26 ISO
ISS
OMIM:270700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: Recessive spastic paraplegia with retinal degeneration
OMIM
MouseDO
CTD
ClinVar
PMID:6944241 PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 More... NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480
JBrowse link
hereditary spastic paraplegia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15126564 More... NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Son SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 ClinVar PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 More... NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
JBrowse link
hereditary spastic paraplegia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21330303 PMID:23109145 PMID:25741868 PMID:28492532 PMID:29528531 More... NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
JBrowse link
hereditary spastic paraplegia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:100,082,562...100,093,658
Ensembl chr  X:100,082,404...100,093,728
JBrowse link
G Plp1 proteolipid protein 1 ISO
ISS
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
OMIM:312920
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:1384324 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 More... NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:1384324 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 More... NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:25741868 NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:100,058,485...100,060,439
Ensembl chr  X:100,058,132...100,060,551
JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:100,010,677...100,012,637
Ensembl chr  X:100,010,690...100,012,654
JBrowse link
hereditary spastic paraplegia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dstyk dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: DSTYK-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 23
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17273976 PMID:23862974 PMID:25741868 PMID:28492532 PMID:28566479 More... NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269
JBrowse link
hereditary spastic paraplegia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 26
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:25741868 More... NCBI chr 7:62,988,429...62,996,190
Ensembl chr 7:62,988,930...62,996,190
JBrowse link
hereditary spastic paraplegia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 ClinVar PMID:28492532 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Ddhd1 DDHD domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 28
OMIM
CTD
ClinVar
PMID:9536098 PMID:15786464 PMID:17576681 PMID:23176821 PMID:24989667 More... NCBI chr15:18,824,389...18,891,036
Ensembl chr15:18,824,394...18,890,952
JBrowse link
hereditary spastic paraplegia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
JBrowse link
G Ankmy1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,423,664...93,476,651
Ensembl chr 9:93,423,963...93,477,236
JBrowse link
G Ano7 anoctamin 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,917,524...93,945,323
Ensembl chr 9:93,917,524...93,945,323
JBrowse link
G Aqp12a aquaporin 12A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,554,527...93,560,011
Ensembl chr 9:93,554,527...93,560,011
JBrowse link
G Asb1 ankyrin repeat and SOCS box-containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,120,332...92,140,790
Ensembl chr 9:92,120,306...92,136,376
JBrowse link
G Atg4b autophagy related 4B, cysteine peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,282,417...94,314,109
Ensembl chr 9:94,282,509...94,314,103
JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,223,493...94,234,476
Ensembl chr 9:94,223,389...94,234,476
JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,209,843...93,214,774
Ensembl chr 9:93,209,843...93,213,317
JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,315,552...94,324,386
Ensembl chr 9:94,315,552...94,324,870
JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,472,832...93,474,207 JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,956,971...91,964,846
Ensembl chr 9:91,956,977...91,964,846
JBrowse link
G Espnl espin-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,912,038...91,936,803
Ensembl chr 9:91,912,049...91,935,292
JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212
JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,382,456...94,387,990 JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,396,234...93,424,047
Ensembl chr 9:93,396,234...93,424,047
JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,527,165...93,539,573
Ensembl chr 9:93,527,127...93,539,299
JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048
JBrowse link
G Hes6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,001,849...92,003,562
Ensembl chr 9:92,001,841...92,003,559
JBrowse link
G Ilkap ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,966,440...91,988,791
Ensembl chr 9:91,966,441...91,988,892
JBrowse link
G Ing5 inhibitor of growth family, member 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,326,549...94,343,392
Ensembl chr 9:94,326,548...94,344,220
JBrowse link
G Kif1a kinesin family member 1A ISO
ISS
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive
OMIM:610357
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.A255V (human)
DNA:missense mutations: :p.A255V, p.R350G (human)
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:9536098 PMID:16081310 PMID:16199547 PMID:16434418 PMID:17576681 More... RGD:12911228, RGD:12911224 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
JBrowse link
G Klhl30 kelch-like family member 30 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,942,475...91,952,756
Ensembl chr 9:91,942,504...91,952,730
JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,592,032...91,720,250
Ensembl chr 9:91,643,197...91,720,250
JBrowse link
G Mab21l4 mab-21 like 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,690,455...93,701,267
Ensembl chr 9:93,690,999...93,700,506
JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983
JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,834,162...93,838,838
Ensembl chr 9:93,834,144...93,838,864
JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560
JBrowse link
G Neu4 neuraminidase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,396,920...94,402,576
Ensembl chr 9:94,396,920...94,402,576
JBrowse link
G Or6b2 olfactory receptor family 6 subfamily B member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,048,475...93,049,413
Ensembl chr 9:93,045,014...93,053,641
JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,216,948...93,220,614
Ensembl chr 9:93,216,948...93,218,466
JBrowse link
G Pask PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,844,275...93,886,036
Ensembl chr 9:93,844,278...93,885,111
JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459
JBrowse link
G Ppp1r7 protein phosphatase 1, regulatory subunit 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,886,068...93,911,198
Ensembl chr 9:93,886,143...93,914,850
JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,543,128...91,549,022
Ensembl chr 9:91,547,901...91,548,818
JBrowse link
G Prr21 proline rich 21 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More...
G Rab17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,552,924...91,566,759
Ensembl chr 9:91,553,464...91,566,451
JBrowse link
G Ramp1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,765,481...91,816,152
Ensembl chr 9:91,781,285...91,816,151
JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,731,153...91,756,783
Ensembl chr 9:91,731,115...91,756,772
JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,476,600...93,486,331
Ensembl chr 9:93,472,390...93,486,331
JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,890,269...91,910,947
Ensembl chr 9:91,890,306...91,910,941
JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,018,141...94,051,386
Ensembl chr 9:94,018,208...94,051,386
JBrowse link
G Sned1 sushi, nidogen and EGF-like domains 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,774,087...93,834,003
Ensembl chr 9:93,774,119...93,830,694
JBrowse link
G Stk25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,161,834...94,174,095
Ensembl chr 9:94,161,836...94,174,244
JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,242,581...94,282,312
Ensembl chr 9:94,242,581...94,282,306
JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
JBrowse link
G Ube2f ubiquitin-conjugating enzyme E2F (putative) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,845,975...91,881,145
Ensembl chr 9:91,845,987...91,880,594
JBrowse link
hereditary spastic paraplegia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh8 atonal bHLH transcription factor 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,259,992...104,292,168
Ensembl chr 4:104,259,992...104,292,168
JBrowse link
G C4h2orf68 similar to human chromosome 2 open reading frame 68 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,402,553...104,408,317
Ensembl chr 4:104,402,588...104,408,320
JBrowse link
G Ggcx gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063
JBrowse link
G Immt inner membrane mitochondrial protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:103,880,482...103,919,116
Ensembl chr 4:103,880,459...103,919,109
JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493
JBrowse link
G Mrpl35 mitochondrial ribosomal protein L35 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:103,865,812...103,876,687
Ensembl chr 4:103,865,812...103,880,887
JBrowse link
G Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:103,950,051...104,014,022
Ensembl chr 4:103,950,051...104,014,020
JBrowse link
G Ptcd3 Pentatricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:103,922,440...103,957,445
Ensembl chr 4:103,920,566...103,957,538
JBrowse link
G Reep1 receptor accessory protein 1 ISO
ISS
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
OMIM:610250
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:16199547 PMID:16826527 PMID:17576681 PMID:18321925 More... NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
JBrowse link
G Rnf181 ring finger protein 181 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,414,586...104,421,433
Ensembl chr 4:104,414,605...104,421,309
JBrowse link
G Sftpb surfactant protein B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
JBrowse link
G St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,134,613...104,192,558
Ensembl chr 4:104,134,613...104,192,558
JBrowse link
G Tmem150a transmembrane protein 150A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,410,271...104,414,630
Ensembl chr 4:104,410,516...104,429,349
JBrowse link
G Usp39 ubiquitin specific peptidase 39 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,373,948...104,406,359
Ensembl chr 4:104,373,955...104,406,359
JBrowse link
G Vamp5 vesicle-associated membrane protein 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,423,813...104,435,059
Ensembl chr 4:104,423,820...104,426,212
JBrowse link
G Vamp8 vesicle-associated membrane protein 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,442,383...104,452,884
Ensembl chr 4:104,442,393...104,452,897
JBrowse link
hereditary spastic paraplegia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:28492532 NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:25741868 NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 33 | ClinVar Annotator: match by term: Spastic tetraparesis
OMIM
CTD
ClinVar
PMID:16826525 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28492532 More... NCBI chr 1:240,979,831...241,003,193
Ensembl chr 1:240,979,842...241,003,193
JBrowse link
hereditary spastic paraplegia 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fa2h fatty acid 2-hydroxylase ISO
ISS
ClinVar Annotator: match by term: Hereditary spastic paraplegia 35
OMIM:612319
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19068277 More... NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153
JBrowse link
hereditary spastic paraplegia 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:1,395,035...1,503,082
Ensembl chr12:1,395,088...1,503,081
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:1,502,606...1,532,347
Ensembl chr12:1,503,646...1,512,585
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 | ClinVar Annotator: match by term: NTE related motor neuron disorder | ClinVar Annotator: match by term: Spastic paraplegia 39
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3963113 PMID:8053762 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Saxo5 stabilizer of axonemal microtubules 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:1,520,983...1,538,127
Ensembl chr12:1,521,014...1,538,118
JBrowse link
G Zfp358 zinc finger protein 358 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:1,552,367...1,556,460
Ensembl chr12:1,552,366...1,556,460
JBrowse link
hereditary spastic paraplegia 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2255281 PMID:4684346 PMID:8252041 PMID:8981948 PMID:9246006 More... NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A ClinVar PMID:11241493 PMID:21208200 PMID:23664120 PMID:28492532 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
JBrowse link
G Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:88,284,087...88,377,118
Ensembl chr 6:88,284,094...88,376,799
JBrowse link
hereditary spastic paraplegia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc6 baculoviral IAP repeat-containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Dpy30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:28492532 NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432
JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:8388883 PMID:23281139 PMID:25741868 PMID:25802881 PMID:28492532 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 NCBI chr 6:20,029,629...20,425,339
Ensembl chr 6:20,029,629...20,425,349
JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 6:21,144,525...21,234,363
Ensembl chr 6:21,125,639...21,234,561
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:9990351 PMID:10999831 PMID:25741868 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:12415272 PMID:15994862 PMID:25741868 PMID:25741869 PMID:28492532 NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127
JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785
JBrowse link
G Spast spastin ISO
ISS
ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of
OMIM:182601
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:9695811 PMID:10493830 PMID:10610178 PMID:10699187 More... NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
JBrowse link
G Trappc2 trafficking protein particle complex subunit 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:9990351 PMID:10999831 PMID:25741868 NCBI chr  X:28,004,051...28,015,336
Ensembl chr  X:27,994,054...28,015,346
JBrowse link
G Ttc27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr 6:20,558,756...20,702,126
Ensembl chr 6:20,558,756...20,702,115
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
G Yipf4 Yip1 domain family, member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr 6:20,950,774...20,962,195
Ensembl chr 6:20,950,501...20,962,229
JBrowse link
hereditary spastic paraplegia 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 42
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:19061983 PMID:24583203 PMID:25402622 PMID:25741868 PMID:26467025 More... NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
JBrowse link
hereditary spastic paraplegia 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208
JBrowse link
hereditary spastic paraplegia 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 44
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.I33M (human)
OMIM
ClinVar
CTD
RGD
PMID:19056803 PMID:25741868 PMID:27057822 PMID:28492532 PMID:34055681 More... RGD:13208577 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
JBrowse link
hereditary spastic paraplegia 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 ClinVar PMID:24482476 PMID:25741868 PMID:28492532 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 45
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19415352 PMID:24482476 More... NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
JBrowse link
hereditary spastic paraplegia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 46
OMIM
CTD
ClinVar
PMID:16199547 PMID:20593214 PMID:23332916 PMID:23332917 PMID:24252062 More... NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
JBrowse link
hereditary spastic paraplegia 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
JBrowse link
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: AP4-related intellectual disability and spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21440262 More... NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531
JBrowse link
G Bcas2 BCAS2, pre-mRNA processing factor ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,692,503...190,700,386
Ensembl chr 2:190,692,461...190,700,389
JBrowse link
G Bcl2l15 Bcl2-like 15 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,338,959...191,344,078
Ensembl chr 2:191,338,959...191,344,078
JBrowse link
G Capza1 capping actin protein of muscle Z-line subunit alpha 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,319,696...192,364,755
Ensembl chr 2:192,319,702...192,364,480
JBrowse link
G Csde1 cold shock domain containing E1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,546,015...190,582,787
Ensembl chr 2:190,554,980...190,582,784
JBrowse link
G Cttnbp2nl CTTNBP2 N-terminal like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,507,963...192,554,548
Ensembl chr 2:192,507,963...192,541,101
JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:25741868 PMID:28492532 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
JBrowse link
G Dennd2c DENN domain containing 2C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,622,357...190,690,489
Ensembl chr 2:190,622,940...190,690,488
JBrowse link
G Hipk1 homeodomain interacting protein kinase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,248,817...191,299,787
Ensembl chr 2:191,248,817...191,298,902
JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345
JBrowse link
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,947,322...192,012,996
Ensembl chr 2:191,949,819...192,012,579
JBrowse link
G Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735
JBrowse link
G Mov10 Mov10 RNA helicase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,292,041...192,315,142
Ensembl chr 2:192,293,470...192,315,083
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Olfml3 olfactomedin-like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,244,221...191,247,050
Ensembl chr 2:191,244,221...191,247,050
JBrowse link
G Phtf1 putative homeodomain transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,470,849...191,537,399
Ensembl chr 2:191,473,130...191,512,078
JBrowse link
G Ppm1j protein phosphatase, Mg2+/Mn2+ dependent, 1J ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,278,597...192,283,883
Ensembl chr 2:192,278,517...192,283,882
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G Rhoc ras homolog family member C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,287,065...192,293,292
Ensembl chr 2:192,287,130...192,295,306
JBrowse link
G Rsbn1 round spermatid basic protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,416,631...191,470,711
Ensembl chr 2:191,416,631...191,470,711
JBrowse link
G Sike1 suppressor of IKBKE 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,518,002...190,525,833
Ensembl chr 2:190,518,002...190,525,832
JBrowse link
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611
JBrowse link
G St7l suppression of tumorigenicity 7-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,364,594...192,434,414
Ensembl chr 2:192,364,594...192,487,190
JBrowse link
G Sycp1 synaptonemal complex protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,296,688...190,456,687
Ensembl chr 2:190,296,954...190,456,737
JBrowse link
G Syt6 synaptotagmin 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,093,009...191,152,283
Ensembl chr 2:191,093,007...191,149,956
JBrowse link
G Tafa3 TAFA chemokine like family member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,264,153...192,280,356
Ensembl chr 2:192,267,093...192,274,019
JBrowse link
G Trim33 tripartite motif-containing 33 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,812,329...190,892,663
Ensembl chr 2:190,807,243...190,888,814
JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
JBrowse link
G Wnt2b Wnt family member 2B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308
JBrowse link
hereditary spastic paraplegia 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO
ISS
ClinVar Annotator: match by term: Hereditary spastic paraplegia 48
OMIM:613647
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20613862 PMID:24033266 More... NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511
JBrowse link
hereditary spastic paraplegia 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd9 ankyrin repeat domain 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 ClinVar PMID:28492532 NCBI chr 6:130,001,914...130,008,792
Ensembl chr 6:129,998,486...130,008,923
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 | ClinVar Annotator: match by term: Inherited spastic paresis | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23176824 PMID:25590979 More... NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974
JBrowse link
hereditary spastic paraplegia 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AP-4 deficiency syndrome | ClinVar Annotator: match by term: Hereditary spastic paraplegia 50
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 More... NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:19559397 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
hereditary spastic paraplegia 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 51
OMIM
CTD
ClinVar
PMID:18414213 PMID:20972249 PMID:21937992 PMID:23472171 PMID:25741868 More... NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
JBrowse link
G Sppl2a signal peptide peptidase-like 2A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 ClinVar PMID:20972249 NCBI chr 3:114,149,337...114,193,408
Ensembl chr 3:114,151,069...114,193,264
JBrowse link
hereditary spastic paraplegia 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:21620353 PMID:23167973 PMID:24700674 More... NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
JBrowse link
hereditary spastic paraplegia 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
JBrowse link
G Cnot7 CCR4-NOT transcription complex, subunit 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,775,416...51,794,581
Ensembl chr16:51,775,412...51,794,576
JBrowse link
G Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:20,995,210...21,330,586
Ensembl chr16:21,235,784...21,330,319
JBrowse link
G Fgf20 fibroblast growth factor 20 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:52,030,549...52,038,201
Ensembl chr16:52,010,194...52,038,204
JBrowse link
G Fgl1 fibrinogen-like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,120,652...51,150,907
Ensembl chr16:51,120,694...51,151,093
JBrowse link
G Ints10 integrator complex subunit 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:20,915,223...20,947,146
Ensembl chr16:20,916,082...20,967,610
JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
G Lzts1 leucine zipper tumor suppressor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:20,542,756...20,598,204
Ensembl chr16:20,542,809...20,598,203
JBrowse link
G Micu3 mitochondrial calcium uptake family, member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,919,859...52,010,705
Ensembl chr16:51,925,225...52,010,613
JBrowse link
G Mtmr7 myotubularin related protein 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,641,267...51,732,212
Ensembl chr16:51,641,190...51,732,182
JBrowse link
G Mtus1 microtubule associated scaffold protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,202,497...51,347,794
Ensembl chr16:51,253,562...51,347,793
JBrowse link
G Nat1 N-acetyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:22,218,217...22,238,516
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Nat2 N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Pcm1 pericentriolar material 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,008,315...51,105,261
Ensembl chr16:51,008,315...51,105,091
JBrowse link
G Pdgfrl platelet-derived growth factor receptor-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,347,929...51,407,850
Ensembl chr16:51,347,948...51,407,850
JBrowse link
G Psd3 pleckstrin and Sec7 domain containing 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:21,465,643...22,035,846
Ensembl chr16:21,465,639...22,034,547
JBrowse link
G Sh2d4a SH2 domain containing 4A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:21,339,010...21,409,360
Ensembl chr16:21,340,015...21,409,260
JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:20,653,268...20,687,051
Ensembl chr16:20,653,508...20,687,051
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,417,478...51,470,784
Ensembl chr16:51,417,493...51,470,784
JBrowse link
G Vps37a VPS37A subunit of ESCRT-I ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22717650 PMID:25741868 More... NCBI chr16:51,736,170...51,775,384
Ensembl chr16:51,737,481...51,775,390
JBrowse link
G Zdhhc2 zinc finger DHHC-type palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,808,465...51,878,060
Ensembl chr16:51,808,468...51,878,060
JBrowse link
hereditary spastic paraplegia 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
JBrowse link
G Adgra2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,932,964...64,971,433
Ensembl chr16:64,933,315...64,971,483
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
JBrowse link
G Ash2l ASH2 like histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,242,205...66,264,064
Ensembl chr16:66,242,212...66,264,061
JBrowse link
G Bag4 BAG cochaperone 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,288,678...66,305,893
Ensembl chr16:66,288,678...66,308,663
JBrowse link
G Brf2 BRF2, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,928,334...64,933,057
Ensembl chr16:64,928,300...64,933,059
JBrowse link
G Ddhd2 DDHD domain containing 2 ISO
ISS
OMIM:615033
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
OMIM
MouseDO
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:16636240 PMID:17576681 PMID:23176823 More... NCBI chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023
JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Got1l1 glutamic-oxaloacetic transaminase 1-like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,860,308...64,873,656
Ensembl chr16:64,860,704...64,866,162
JBrowse link
G Htra4 HtrA serine peptidase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:67,001,605...67,015,074
Ensembl chr16:67,001,605...67,015,074
JBrowse link
G Letm2 leucine zipper and EF-hand containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,464,958...66,489,640
Ensembl chr16:66,469,111...66,489,704
JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852
JBrowse link
G Nsd3 nuclear receptor binding SET domain protein 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,354,030...66,466,202
Ensembl chr16:66,358,973...66,465,423
JBrowse link
G Plekha2 pleckstrin homology domain containing A2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,938,684...67,000,661
Ensembl chr16:66,939,109...66,999,395
JBrowse link
G Plpbp pyridoxal phosphate binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:65,003,292...65,014,886
Ensembl chr16:65,002,223...65,014,886
JBrowse link
G Plpp5 phospholipid phosphatase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,349,483...66,353,887
Ensembl chr16:66,349,502...66,464,797
JBrowse link
G Rab11fip1 RAB11 family interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,886,902...64,917,491
Ensembl chr16:64,884,676...64,917,491
JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
JBrowse link
G Tacc1 transforming, acidic coiled-coil containing protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,812,232...66,895,736
Ensembl chr16:66,812,295...66,895,733
JBrowse link
G Tm2d2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:67,016,683...67,022,206
Ensembl chr16:67,012,675...67,022,226
JBrowse link
hereditary spastic paraplegia 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 55 | ClinVar Annotator: match by term: Spastic paraplegia 55, autosomal recessive OMIM
ClinVar
PMID:3479531 PMID:20598281 PMID:23188110 PMID:24080142 PMID:24198383 More... NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
JBrowse link
hereditary spastic paraplegia 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 56
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:615030 PMID:14660610 PMID:23176821 PMID:25558065 PMID:25741868 More... NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882
JBrowse link
hereditary spastic paraplegia 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfg trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 57
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 More... NCBI chr11:43,885,542...43,911,976
Ensembl chr11:43,885,661...43,911,976
JBrowse link
hereditary spastic paraplegia 5A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:21981780 PMID:25741868 PMID:28492532 NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208
JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1943942 PMID:7987300 PMID:9536098 PMID:9802883 PMID:12874406 More... NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 PMID:28492532 PMID:29453417 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
JBrowse link
hereditary spastic paraplegia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 | ClinVar Annotator: match by term: NIPA1-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7825577 PMID:14508710 PMID:15643603 PMID:15711826 PMID:16267846 More... NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790
JBrowse link
G Nipa2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr 1:106,799,979...106,824,206
Ensembl chr 1:106,800,903...106,824,126
JBrowse link
G Tubgcp5 tubulin gamma complex component 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr 1:106,636,526...106,672,175
Ensembl chr 1:106,636,526...106,672,175
JBrowse link
hereditary spastic paraplegia 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6ip1 ADP-ribosylation factor like GTPase 6 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 61
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:27848944 More... NCBI chr 1:172,430,475...172,439,990
Ensembl chr 1:172,430,489...172,439,994
JBrowse link
hereditary spastic paraplegia 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin1 ER lipid raft associated 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 62
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 More... NCBI chr 1:242,921,147...242,956,472
Ensembl chr 1:242,921,152...242,956,394
JBrowse link
hereditary spastic paraplegia 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcyl1 adenosylhomocysteinase-like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,294,149...195,328,586
Ensembl chr 2:195,294,153...195,345,815
JBrowse link
G Aknad1 AKNA domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,385,149...196,432,319
Ensembl chr 2:196,393,535...196,432,309
JBrowse link
G Alx3 ALX homeobox 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,231,197...195,241,609
Ensembl chr 2:195,231,197...195,241,609
JBrowse link
G Amigo1 adhesion molecule with Ig like domain 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,823,138...195,828,593
Ensembl chr 2:195,823,042...195,829,585
JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 | ClinVar Annotator: match by term: Spastic paraplegia 63, autosomal recessive
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23911318 PMID:24482476 More... NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271
JBrowse link
G Atxn7l2 ataxin 7-like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,838,920...195,847,339
Ensembl chr 2:195,838,981...195,847,315
JBrowse link
G Cd53 Cd53 molecule ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,352,139...194,399,668
Ensembl chr 2:194,352,139...194,399,657
JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845
JBrowse link
G Cfap276 cilia and flagella associated protein 276 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,166,009...196,177,919
Ensembl chr 2:196,166,009...196,177,919
JBrowse link
G Clcc1 chloride channel CLIC-like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,296,350...196,326,914
Ensembl chr 2:196,296,393...196,326,913
JBrowse link
G Csf1 colony stimulating factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Cyb561d1 cytochrome b561 family, member D1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,834,884...195,837,524
Ensembl chr 2:195,834,740...195,838,243
JBrowse link
G Dram2 DNA damage regulated autophagy modulator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,035,624...194,064,415
Ensembl chr 2:194,035,818...194,063,403
JBrowse link
G Eeig2 EEIG family member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,608,499...196,663,371
Ensembl chr 2:196,608,499...196,663,371
JBrowse link
G Elapor1 endosome-lysosome associated apoptosis and autophagy regulator 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,089,199...196,169,055
Ensembl chr 2:196,091,646...196,168,716
JBrowse link
G Eps8l3 EPS8 like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,514,692...195,528,085
Ensembl chr 2:195,514,692...195,528,085
JBrowse link
G Fndc7 fibronectin type III domain containing 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,501,313...196,537,816
Ensembl chr 2:196,502,460...196,537,694
JBrowse link
G Gnai3 G protein subunit alpha i3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,742,765...195,780,720
Ensembl chr 2:195,742,642...195,780,742
JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,726,371...195,735,866
Ensembl chr 2:195,726,762...195,735,866
JBrowse link
G Gpr61 G protein-coupled receptor 61 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,781,931...195,789,798
Ensembl chr 2:195,782,752...195,789,621
JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,327,149...196,375,322
Ensembl chr 2:196,327,149...196,375,154
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstm2 glutathione S-transferase mu 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,624,015...195,628,774
Ensembl chr 2:195,544,426...195,628,961
JBrowse link
G Gstm4 glutathione S-transferase mu 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,667,940...195,685,315
Ensembl chr 2:195,680,004...195,685,323
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553
JBrowse link
G Gstm5l glutathione S-transferase, mu 5-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,544,424...195,549,895
Ensembl chr 2:195,544,426...195,628,961
JBrowse link
G Henmt1 HEN methyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,585,732...196,603,700
Ensembl chr 2:196,586,797...196,599,738
JBrowse link
G Kcna10 potassium voltage-gated channel subfamily A member 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,786,500...194,798,575
Ensembl chr 2:194,786,500...194,798,575
JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400
JBrowse link
G Kcna3 potassium voltage-gated channel subfamily A member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,632,106...194,634,059
Ensembl chr 2:194,632,196...194,650,138
JBrowse link
G Kcnc4 potassium voltage-gated channel subfamily C member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,063,967...195,100,244
Ensembl chr 2:195,071,769...195,099,233
JBrowse link
G Lamtor5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,900,038...194,905,394
Ensembl chr 2:194,900,038...194,905,395
JBrowse link
G Lrif1 ligand dependent nuclear receptor interacting factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,231,397...194,322,489
Ensembl chr 2:194,230,951...194,322,483
JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,005,297...196,018,826
Ensembl chr 2:196,005,325...196,018,824
JBrowse link
G Prok1 prokineticin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,850,539...194,859,343
Ensembl chr 2:194,853,991...194,859,250
JBrowse link
G Prpf38b pre-mRNA processing factor 38B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,553,224...196,562,271
Ensembl chr 2:196,553,225...196,562,250
JBrowse link
G Psma5 proteasome 20S subunit alpha 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,896,369...195,919,733
Ensembl chr 2:195,896,365...195,919,731
JBrowse link
G Psrc1 proline and serine rich coiled-coil 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,022,361...196,026,874
Ensembl chr 2:196,022,361...196,026,874
JBrowse link
G Rbm15 RNA binding motif protein 15 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,945,974...194,954,498
Ensembl chr 2:194,945,974...194,954,703
JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277
JBrowse link
G Slc16a4 solute carrier family 16, member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,911,075...194,933,162
Ensembl chr 2:194,911,236...194,933,117
JBrowse link
G Slc25a24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,761,076...196,799,236
Ensembl chr 2:196,761,274...196,799,231
JBrowse link
G Slc6a17 solute carrier family 6 member 17 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,107,434...195,155,697
Ensembl chr 2:195,107,438...195,155,697
JBrowse link
G Sort1 sortilin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,924,033...196,002,354
Ensembl chr 2:195,924,099...196,002,354
JBrowse link
G Strip1 striatin interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,248,384...195,268,330
Ensembl chr 2:195,248,386...195,268,481
JBrowse link
G Stxbp3 syntaxin binding protein 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,442,738...196,485,733
Ensembl chr 2:196,442,634...196,485,671
JBrowse link
G Sypl2 synaptophysin-like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,849,062...195,863,794
Ensembl chr 2:195,849,062...195,863,794
JBrowse link
G Taf13 TATA-box binding protein associated factor 13 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,205,219...196,215,882
Ensembl chr 2:196,205,243...196,215,878
JBrowse link
G Tmem167b transmembrane protein 167B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,194,355...196,198,134
Ensembl chr 2:196,192,185...196,198,158
Ensembl chr20:196,192,185...196,198,158
JBrowse link
G Ubl4b ubiquitin-like 4B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,192,490...195,193,820
Ensembl chr 2:195,191,720...195,193,875
JBrowse link
G Wdr47 WD repeat domain 47 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,226,757...196,287,739
Ensembl chr 2:196,205,238...196,287,739
JBrowse link
hereditary spastic paraplegia 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 64
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 More... NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
JBrowse link
hereditary spastic paraplegia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia Paraplegin type ClinVar PMID:25326637 PMID:28492532 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
JBrowse link
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin ISS OMIM:607259 MouseDO NCBI chr19:51,117,088...51,151,228
Ensembl chr19:51,117,057...51,150,484
JBrowse link
hereditary spastic paraplegia 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive ClinVar PMID:24482476 PMID:28492532 NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive OMIM
ClinVar
PMID:24482476 PMID:25741868 PMID:28492532 PMID:28708278 PMID:34585293 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
JBrowse link
hereditary spastic paraplegia 72A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep2 receptor accessory protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 72 | ClinVar Annotator: match by term: Spastic paraplegia 72B, autosomal recessive
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:24388663 PMID:24482476 PMID:25741868 More... NCBI chr18:26,438,130...26,447,165
Ensembl chr18:26,438,346...26,447,161
JBrowse link
hereditary spastic paraplegia 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt1c carnitine palmitoyltransferase 1c ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 73
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25751282 More... NCBI chr 1:95,442,814...95,457,347
Ensembl chr 1:95,442,817...95,457,342
JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 ClinVar PMID:25741868 NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
JBrowse link
hereditary spastic paraplegia 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iba57 iron-sulfur cluster assembly factor IBA57 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 | ClinVar Annotator: match by term: Spastic paraplegia 74, autosomal recessive
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:23462291 PMID:25609768 PMID:25741868 More... NCBI chr10:43,942,017...43,950,807
Ensembl chr10:43,942,017...43,950,807
JBrowse link
hereditary spastic paraplegia 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alkbh6 alkB homolog 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,563,511...85,568,977
Ensembl chr 1:85,563,592...85,568,973
JBrowse link
G Aplp1 amyloid beta precursor like protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,696,880...85,707,215
Ensembl chr 1:85,696,882...85,707,155
JBrowse link
G Arhgap33 Rho GTPase activating protein 33 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,776,112...85,789,767
Ensembl chr 1:85,776,108...85,789,678
JBrowse link
G Atp4a ATPase H+/K+ transporting subunit alpha ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,961,607...85,974,972
Ensembl chr 1:85,961,708...85,974,844
JBrowse link
G Capns1 calpain, small subunit 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,444,613...85,454,861
Ensembl chr 1:85,444,608...85,454,795
JBrowse link
G Cd22 CD22 molecule ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,116,376...86,132,782
Ensembl chr 1:86,117,459...86,132,322
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
JBrowse link
G Cebpg CCAAT/enhancer binding protein gamma ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,683,060...87,692,772
Ensembl chr 1:87,684,019...87,694,569
JBrowse link
G Cep89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:88,058,211...88,100,114
Ensembl chr 1:88,058,227...88,100,112
JBrowse link
G Chst8 carbohydrate sulfotransferase 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,294,144...87,435,900
Ensembl chr 1:87,294,540...87,435,900
JBrowse link
G Clip3 CAP-GLY domain containing linker protein 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,547,170...85,563,187
Ensembl chr 1:85,547,206...85,563,184
JBrowse link
G Cox6b1 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001
Ensembl chr 2:85,875,109...85,884,001
JBrowse link
G Cox7a1 cytochrome c oxidase subunit 7A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,422,162...85,447,530
Ensembl chr 1:85,441,871...85,445,151
JBrowse link
G Dmkn dermokine ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,013,237...86,031,243
Ensembl chr 1:86,014,188...86,030,006
JBrowse link
G Etv2 ETS variant transcription factor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,890,562...85,894,025
Ensembl chr 1:85,890,559...85,893,431
JBrowse link
G Faap24 FA core complex associated protein 24 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:88,051,523...88,057,997
Ensembl chr 1:88,051,911...88,057,989
JBrowse link
G Fam187b family with sequence similarity 187, member B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,205,234...86,219,542
Ensembl chr 1:86,205,218...86,219,917
JBrowse link
G Ffar1 free fatty acid receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,111,368...86,112,272
Ensembl chr 1:86,111,368...86,112,272
JBrowse link
G Ffar2 free fatty acid receptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,071,855...86,075,049
Ensembl chr 1:86,072,184...86,075,033
JBrowse link
G Ffar3 free fatty acid receptor 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,105,388...86,106,728
Ensembl chr 1:86,104,920...86,106,849
JBrowse link
G Fxyd1 FXYD domain-containing ion transport regulator 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,287,163...86,291,478
Ensembl chr 1:86,287,165...86,291,278
JBrowse link
G Fxyd3 FXYD domain-containing ion transport regulator 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,305,531...86,312,455 JBrowse link
G Fxyd5 FXYD domain-containing ion transport regulator 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,267,937...86,277,329
Ensembl chr 1:86,267,406...86,277,519
JBrowse link
G Fxyd7 FXYD domain-containing ion transport regulator 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,277,678...86,286,954
Ensembl chr 1:86,277,678...86,286,954
JBrowse link
G Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,979,096...85,994,153
Ensembl chr 1:85,979,098...85,993,640
JBrowse link
G Garre1 granule associated Rac and RHOG effector 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,862,121...86,939,725
Ensembl chr 1:86,862,121...86,939,687
JBrowse link
G Gpatch1 G patch domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,925,606...87,974,544
Ensembl chr 1:87,925,618...87,974,544
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
JBrowse link
G Gramd1a GRAM domain containing 1A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,367,001...86,393,348
Ensembl chr 1:86,367,001...86,393,336
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Haus5 HAUS augmin-like complex, subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,912,371...85,924,327
Ensembl chr 1:85,912,374...85,923,337
JBrowse link
G Hcst hematopoietic cell signal transducer ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,676,976...85,679,083
Ensembl chr 1:85,676,979...85,679,012
JBrowse link
G Hpn hepsin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,337,085...86,352,785
Ensembl chr 1:86,337,087...86,352,811
JBrowse link
G Hspb6 heat shock protein family B (small) member 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,806,898...85,809,072
Ensembl chr 1:85,806,146...85,809,071
JBrowse link
G Igflr1 IGF-like family receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,818,428...85,821,032
Ensembl chr 1:85,816,326...85,821,030
JBrowse link
G Kctd15 potassium channel tetramerization domain containing 15 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,258,658...87,271,979
Ensembl chr 1:87,258,658...87,273,497
JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326
JBrowse link
G Krtdap keratinocyte differentiation associated protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,038,296...86,041,594
Ensembl chr 1:86,038,437...86,041,455
JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874
JBrowse link
G Lin37 lin-37 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,809,065...85,813,235
Ensembl chr 1:85,809,074...85,812,991
JBrowse link
G Lrfn3 leucine rich repeat and fibronectin type III domain containing 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,616,862...85,623,725
Ensembl chr 1:85,616,868...85,623,725
JBrowse link
G Lrp3 LDL receptor related protein 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,843,815...87,859,147
Ensembl chr 1:87,844,868...87,859,110
JBrowse link
G Lsm14a LSM14A mRNA processing body assembly factor ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,964,800...87,009,325
Ensembl chr 1:86,964,828...87,009,276
JBrowse link
G Lsr lipolysis stimulated lipoprotein receptor ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,185,769...86,201,952
Ensembl chr 1:86,186,431...86,201,952
JBrowse link
G Mag myelin-associated glycoprotein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:26179919 More... NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656
JBrowse link
G Nfkbid NFKB inhibitor delta ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,679,353...85,690,415
Ensembl chr 1:85,680,861...85,690,447
JBrowse link
G Nudt19 nudix hydrolase 19 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:88,214,475...88,226,072
Ensembl chr 1:88,214,480...88,226,207
JBrowse link
G Ovol3 ovo-like zinc finger 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,484,956...85,488,592
Ensembl chr 1:85,484,956...85,488,592
JBrowse link
G Pdcd2l programmed cell death 2-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,810,292...86,822,554
Ensembl chr 1:86,810,292...86,822,554
JBrowse link
G Pepd peptidase D ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,536,650...87,681,233
Ensembl chr 1:87,536,609...87,681,231
JBrowse link
G Polr2i RNA polymerase II subunit I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,483,515...85,484,952
Ensembl chr 1:85,483,515...85,484,952
JBrowse link
G Prodh2 proline dehydrogenase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,753,558...85,767,165
Ensembl chr 1:85,753,644...85,767,162
JBrowse link
G Proser3 proline and serine rich 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,793,363...85,806,682
Ensembl chr 1:85,793,358...85,805,909
JBrowse link
G Psenen presenilin enhancer gamma secretase subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192
JBrowse link
G Rbm42 RNA binding motif protein 42 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,898,618...85,908,569
Ensembl chr 1:85,898,625...85,908,573
JBrowse link
G Rgs9bp regulator of G protein signaling 9 binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:88,249,438...88,250,151
Ensembl chr 1:88,249,438...88,250,151
JBrowse link
G Rhpn2 rhophilin, Rho GTPase binding protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,991,143...88,051,895
Ensembl chr 1:87,991,144...88,051,902
JBrowse link
G Sbsn suprabasin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,978,970...86,006,034
Ensembl chr 1:86,001,567...86,006,034
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739
JBrowse link
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,576,207...85,577,156
Ensembl chr 1:85,576,041...85,577,366
Ensembl chr 1:85,576,041...85,577,366
JBrowse link
G Slc7a10 solute carrier family 7 member 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,829,084...87,845,073
Ensembl chr 1:87,829,175...87,845,071
JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641
JBrowse link
G Syne4 spectrin repeat containing nuclear envelope family member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,569,409...85,573,775
Ensembl chr 1:85,569,545...85,573,760
JBrowse link
G Tbcb tubulin folding cofactor B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,477,639...85,483,488
Ensembl chr 1:85,477,640...85,483,488
JBrowse link
G Tdrd12 tudor domain containing 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:88,133,271...88,205,729
Ensembl chr 1:88,133,373...88,205,705
JBrowse link
G Thap8 THAP domain containing 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532
G Tmem147 transmembrane protein 147 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,977,028...85,978,848
Ensembl chr 1:85,977,025...85,978,868
JBrowse link
G Tyrobp transmembrane immune signaling adaptor Tyrobp ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,672,931...85,676,856
Ensembl chr 1:85,672,994...85,676,848
JBrowse link
G U2af1l4 U2 small nuclear RNA auxiliary factor 1-like 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,816,268...85,818,462
Ensembl chr 1:85,815,101...85,818,462
JBrowse link
G Uba2 ubiquitin-like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,775,239...86,802,685
Ensembl chr 1:86,775,244...86,802,682
JBrowse link
G Upk1a uroplakin 1A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,859,672...85,870,147
Ensembl chr 1:85,859,671...85,870,354
JBrowse link
G Usf2 upstream transcription factor 2, c-fos interacting ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,174,703...86,185,942
Ensembl chr 1:86,174,703...86,185,617
JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
JBrowse link
G Wdr88 WD repeat domain 88 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,884,316...87,924,719
Ensembl chr 1:87,884,323...87,924,695
JBrowse link
G Wtip WT1 interacting protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,731,214...86,764,939
Ensembl chr 1:86,731,265...86,765,014
JBrowse link
G Zbtb32 zinc finger and BTB domain containing 32 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,841,931...85,851,116
Ensembl chr 1:85,841,931...85,844,236
JBrowse link
G Znf599l-ps1 zinc finger protein 599 like, pseudogene 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,453,465...86,484,002 JBrowse link
hereditary spastic paraplegia 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn1 calpain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 76
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27153400 PMID:27320912 More... NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
JBrowse link
hereditary spastic paraplegia 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 | ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive
OMIM
CTD
ClinVar
PMID:25741868 PMID:25851414 PMID:26553276 PMID:28492532 PMID:29126765 More... NCBI chr17:28,319,215...28,746,217
Ensembl chr17:28,319,280...28,746,337
JBrowse link
G Lyrm4 LYR motif containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive ClinVar PMID:25741868 NCBI chr17:28,746,457...28,861,849
Ensembl chr17:28,746,469...28,861,750
JBrowse link
hereditary spastic paraplegia 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp13a2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: ATP13A2-related condition | ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 78
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12169656 PMID:16964263 PMID:18075584 PMID:18075585 PMID:18414213 More... NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
JBrowse link
hereditary spastic paraplegia 79A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxia OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:35986737 PMID:37650884 NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590
JBrowse link
hereditary spastic paraplegia 79B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
CTD
OMIM
ClinVar
PMID:3340629 PMID:4514348 PMID:10203348 PMID:10563640 PMID:12408865 More... NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590
JBrowse link
hereditary spastic paraplegia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:28492532 NCBI chr 7:90,936,112...91,173,435
Ensembl chr 7:90,936,112...91,164,899
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar Annotator: match by term: WASHC5-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:10797436 PMID:16199547 PMID:17160902 PMID:17576681 More... NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103
JBrowse link
hereditary spastic paraplegia 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubap1 ubiquitin-associated protein 1 ISO
ISS
OMIM:618418
ClinVar Annotator: match by term: Spastic paraplegia 80, autosomal dominant | ClinVar Annotator: match by term: UBAP1-related condition
OMIM
MouseDO
ClinVar
PMID:25741868 PMID:25741869 PMID:30929741 PMID:31203368 PMID:31515522 More... NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152
JBrowse link
hereditary spastic paraplegia 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Selenoi selenoprotein I ISO ClinVar Annotator: match by term: Spastic paraplegia 81, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:28052917 PMID:29500230 PMID:33454747 PMID:36942482 NCBI chr 6:26,073,127...26,111,326
Ensembl chr 6:26,072,648...26,111,314
JBrowse link
hereditary spastic paraplegia 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcyt2 phosphate cytidylyltransferase 2, ethanolamine ISO ClinVar Annotator: match by term: Spastic paraplegia 82, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31637422 PMID:32889549 NCBI chr10:105,888,769...105,896,182
Ensembl chr10:105,888,775...105,896,172
JBrowse link
hereditary spastic paraplegia 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Spastic paraplegia 83, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:32707086 PMID:33970200 NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233
JBrowse link
hereditary spastic paraplegia 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Spastic paraplegia 84, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:34415322 NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
JBrowse link
hereditary spastic paraplegia 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Spastic paraplegia 85, autosomal recessive OMIM
ClinVar
PMID:17190954 PMID:21115467 PMID:25741868 PMID:25882839 PMID:31636353 More... NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083
JBrowse link
hereditary spastic paraplegia 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16a abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Spastic paraplegia 86, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:34587489 PMID:34866177 NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927
JBrowse link
hereditary spastic paraplegia 87 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem63c transmembrane protein 63c ISO ClinVar Annotator: match by term: Spastic paraplegia 87, autosomal recessive OMIM
ClinVar
PMID:35718349 NCBI chr 6:106,667,389...106,738,778
Ensembl chr 6:106,672,934...106,736,990
JBrowse link
hereditary spastic paraplegia 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Spastic paraplegia 88, autosomal dominant OMIM
ClinVar
PMID:25741868 PMID:34564892 PMID:34825409 PMID:34981581 NCBI chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419
JBrowse link
hereditary spastic paraplegia 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Spastic paraplegia 89, autosomal recessive OMIM
ClinVar
PMID:37119330 NCBI chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247
JBrowse link
hereditary spastic paraplegia 90A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptssa serine palmitoyltransferase, small subunit A ISO ClinVar Annotator: match by term: Spastic paraplegia 90A, autosomal dominant ClinVar
OMIM
PMID:36718090 NCBI chr 6:72,144,714...72,156,130
Ensembl chr 6:72,144,714...72,156,214
JBrowse link
hereditary spastic paraplegia 90B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptssa serine palmitoyltransferase, small subunit A ISO ClinVar Annotator: match by term: Spastic paraplegia 90B, autosomal recessive OMIM
ClinVar
NCBI chr 6:72,144,714...72,156,130
Ensembl chr 6:72,144,714...72,156,214
JBrowse link
hereditary spastic paraplegia 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy | ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:p.V243L, p.R252Q(human)
OMIM
ClinVar
CTD
RGD
PMID:8779323 PMID:9536098 PMID:9973297 PMID:16199547 PMID:17576681 More... RGD:11056004 NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
hereditary spastic paraplegia 9B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia type 9B | ClinVar Annotator: match by term: Spastic paraplegia 9b, autosomal recessive
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26026163 PMID:26297558 More... NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
infantile Refsum disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc10 ATP binding cassette subfamily C member 10 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,657,242...14,677,178
Ensembl chr 9:14,657,264...14,677,178
JBrowse link
G Bicral BICRA like chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,100,253...14,185,368
Ensembl chr 9:14,154,209...14,183,671
JBrowse link
G Bysl bystin-like ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,382,806...13,392,557
Ensembl chr 9:13,382,557...13,394,339
JBrowse link
G C9h6orf132 similar to human chromosome 6 open reading frame 132 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,524,822...13,561,756
Ensembl chr 9:13,525,395...13,561,585
JBrowse link
G C9h6orf226 smilar to human chromosome 6 open reading frame 226 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,207,988...14,209,134
Ensembl chr 9:14,208,417...14,208,761
JBrowse link
G Ccnd3 cyclin D3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371
JBrowse link
G Cnpy3 canopy FGF signaling regulator 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,233,478...14,247,847
Ensembl chr 9:14,233,428...14,247,831
JBrowse link
G Creb3l1 cAMP responsive element binding protein 3-like 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456
JBrowse link
G Crip3 cysteine-rich protein 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,554,450...14,557,344
Ensembl chr 9:14,554,450...14,557,302
JBrowse link
G Cry2 cryptochrome circadian regulator 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965
JBrowse link
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
JBrowse link
G Cul9 cullin 9 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,435,948...14,479,552
Ensembl chr 9:14,436,111...14,479,548
JBrowse link
G Dgkz diacylglycerol kinase zeta ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099
JBrowse link
G Dlk2 delta like non-canonical Notch ligand 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,677,102...14,681,584
Ensembl chr 9:14,676,562...14,681,594
JBrowse link
G Dnph1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,481,296...14,484,034
Ensembl chr 9:14,481,066...14,484,022
JBrowse link
G Foxp4 forkhead box P4 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,058,506...13,115,406
Ensembl chr 9:13,058,476...13,114,879
JBrowse link
G Frey1 Frey regulator of sperm-oocyte fusion 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chr 3:78,354,303...78,355,055
Ensembl chr 3:78,354,303...78,355,055
JBrowse link
G Frs3 fibroblast growth factor receptor substrate 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,288,559...13,297,285
Ensembl chr 9:13,288,667...13,295,382
JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107
JBrowse link
G Gnmt glycine N-methyltransferase ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:26669662 PMID:27779215 More... NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
JBrowse link
G Gtpbp2 GTP binding protein 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,813,964...14,823,419
Ensembl chr 9:14,813,964...14,823,241
JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565
JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455
JBrowse link
G Klc4 kinesin light chain 4 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,337,164...14,351,075
Ensembl chr 9:14,337,534...14,351,066
JBrowse link
G Klhdc3 kelch domain containing 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,302,345...14,308,736
Ensembl chr 9:14,302,354...14,308,736
JBrowse link
G Large2 LARGE xylosyl- and glucuronyltransferase 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chr 3:78,334,627...78,347,167
Ensembl chr 3:78,336,056...78,342,184
JBrowse link
G Lrrc73 leucine rich repeat containing 73 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,726,157...14,730,144
Ensembl chr 9:14,726,158...14,729,158
JBrowse link
G Mad2l1bp MAD2L1 binding protein ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,832,133...14,836,458
Ensembl chr 9:14,832,132...14,837,447
JBrowse link
G Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chr 3:78,355,051...78,372,946
Ensembl chr 3:78,355,048...78,372,884
JBrowse link
G Mdfi MyoD family inhibitor ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,156,806...13,175,218
Ensembl chr 9:13,156,866...13,175,217
JBrowse link
G Mea1 male-enhanced antigen 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,300,283...14,304,130
Ensembl chr 9:14,293,446...14,302,060
JBrowse link
G Med20 mediator complex subunit 20 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,370,146...13,382,756
Ensembl chr 9:13,370,146...13,382,476
JBrowse link
G Mrpl2 mitochondrial ribosomal protein L2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,333,233...14,337,006
Ensembl chr 9:14,333,234...14,337,040
JBrowse link
G Mrps10 mitochondrial ribosomal protein S10 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,614,897...13,624,819
Ensembl chr 9:13,614,897...13,624,779
JBrowse link
G Mrps18a mitochondrial ribosomal protein S18A ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,853,322...14,869,819
Ensembl chr 9:14,853,291...14,869,835
JBrowse link
G Ncr2 natural cytotoxicity triggering receptor 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:12,777,195...12,828,437 JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9683594 PMID:9700193 PMID:10527683 PMID:10862081 PMID:12794690 More... NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495
JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum's disease ClinVar PMID:9090384 PMID:9536098 PMID:9632816 PMID:9792857 PMID:10527683 More... NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:10332040 PMID:21031596 PMID:25741868 PMID:28492532 PMID:33190326 More... NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) ClinVar PMID:9536098 PMID:9837814 PMID:11890679 PMID:16199547 PMID:17576681 More... NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
CTD
ClinVar
PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 More... NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease
CTD
ClinVar
PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 More... NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:10942428 PMID:21031596 PMID:28492532 NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B
ClinVar PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
JBrowse link
G Pgc progastricsin ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,257,462...13,265,682
Ensembl chr 9:13,257,462...13,265,682
JBrowse link
G Phf21a PHD finger protein 21A ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chr 3:78,158,760...78,331,903
Ensembl chr 3:78,194,549...78,331,865
JBrowse link
G Polh DNA polymerase eta ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,778,355...14,813,210
Ensembl chr 9:14,777,888...14,812,723
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
G Ppp2r5d protein phosphatase 2, regulatory subunit B', delta ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400
JBrowse link
G Prickle4 prickle planar cell polarity protein 4 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,297,494...13,305,635
Ensembl chr 9:13,297,758...13,305,630
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
JBrowse link
G Ptcra pre T-cell antigen receptor alpha ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,218,907...14,229,141
Ensembl chr 9:14,218,802...14,229,235
JBrowse link
G Ptk7 protein tyrosine kinase 7 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,352,155...14,418,473
Ensembl chr 9:14,351,202...14,418,494
JBrowse link
G Rpl7l1 ribosomal protein L7-like 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,198,101...14,206,119
Ensembl chr 9:14,198,092...14,206,110
JBrowse link
G Rrp36 ribosomal RNA processing 36 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,308,956...14,316,959
Ensembl chr 9:14,308,982...14,316,110
JBrowse link
G Rsph9 radial spoke head component 9 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,840,115...14,852,950
Ensembl chr 9:14,840,115...14,860,062
JBrowse link
G Slc22a7 solute carrier family 22 member 7 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,547,073...14,554,354
Ensembl chr 9:14,547,849...14,553,921
JBrowse link
G Slc35c1 solute carrier family 35 member C1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chr 3:78,421,925...78,429,603
Ensembl chr 3:78,421,933...78,428,520
JBrowse link
G Srf serum response factor ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
JBrowse link
G Taf8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,491,892...13,511,713
Ensembl chr 9:13,491,937...13,511,717
JBrowse link
G Tbcc tubulin folding cofactor C ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,098,855...14,100,043
Ensembl chr 9:14,098,868...14,100,042
JBrowse link
G Tfeb transcription factor EB ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,198,890...13,254,726
Ensembl chr 9:13,198,891...13,254,714
JBrowse link
G Tjap1 tight junction associated protein 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,701,418...14,725,623
Ensembl chr 9:14,701,468...14,725,751
JBrowse link
G Tomm6 translocase of outer mitochondrial membrane 6 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,304,269...13,305,637 JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
JBrowse link
G Treml2 triggering receptor expressed on myeloid cells-like 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:12,694,453...12,705,379
Ensembl chr 9:12,694,697...12,705,324
JBrowse link
G Treml4 triggering receptor expressed on myeloid cells-like 4 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:12,718,968...12,743,879
Ensembl chr 9:12,721,815...12,743,253
JBrowse link
G Trerf1 transcriptional regulating factor 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,631,619...13,858,326
Ensembl chr 9:13,634,126...13,857,029
JBrowse link
G Ttbk1 tau tubulin kinase 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,493,166...14,538,372
Ensembl chr 9:14,493,389...14,535,774
JBrowse link
G Ubr2 ubiquitin protein ligase E3 component n-recognin 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,982,427...14,062,315
Ensembl chr 9:13,982,329...14,062,139
JBrowse link
G Usp49 ubiquitin specific peptidase 49 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,305,640...13,366,132
Ensembl chr 9:13,308,178...13,366,132
JBrowse link
G Vegfa vascular endothelial growth factor A ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Xpo5 exportin 5 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
JBrowse link
G Yipf3 Yip1 domain family, member 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,730,289...14,735,644
Ensembl chr 9:14,730,284...14,735,641
JBrowse link
G Zfp318 zinc finger protein 318 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,562,958...14,601,557
Ensembl chr 9:14,563,313...14,601,409
JBrowse link
MASA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
JBrowse link
G L1cam L1 cell adhesion molecule ISO
ISS
DNA:missense mutations, deletion:cds, intron:p.H191Q, p.D598N, IVS27_3'utrdel (human)
ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome
OMIM:303350
DNA:deletion:exon:
DNA:mutation:cds:924C>T(human)
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1303258 PMID:1870106 PMID:3460961 PMID:7493978 PMID:7562969 More... RGD:6483061, RGD:11570406, RGD:11064095 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
JBrowse link
MAST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spg21 SPG21 abhydrolase domain containing, maspardin ISO
ISS
ClinVar Annotator: match by term: Mast syndrome
OMIM:248900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:6024251 PMID:9536098 PMID:14564668 PMID:16199547 PMID:17576681 More... NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction ClinVar
OMIM
PMID:36965478 NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
JBrowse link
PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc5a6 solute carrier family 5 member 6 ISO ClinVar Annotator: match by term: Peripheral motor neuropathy, childhood-onset, biotin-responsive OMIM
ClinVar
PMID:25741868 PMID:27904971 PMID:28492532 PMID:31392107 PMID:31754459 More... NCBI chr 6:25,319,187...25,331,713
Ensembl chr 6:25,320,442...25,331,712
JBrowse link
Refsum disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Phytanic acid storage disease
CTD
ClinVar
PMID:1773541 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9536098 More... NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO
ISS
ClinVar Annotator: match by term: PHYH-related condition | ClinVar Annotator: match by term: Phytanic acid oxidase deficiency | ClinVar Annotator: match by term: Phytanic acid storage disease | ClinVar Annotator: match by term: Refsum syndrome
OMIM:266500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:1155634 PMID:9326939 PMID:9326940 PMID:9536098 PMID:9657395 More... RGD:13831337, RGD:13831313 NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
JBrowse link
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Ataxia with Dysarthria ClinVar PMID:31047799 NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.A467T,p.W748S,p.T251I,p.G848S(human)
OMIM
ClinVar
CTD
RGD
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... RGD:8694285, RGD:8694282 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 More... NCBI chr 4:124,869,655...125,214,862
Ensembl chr 4:124,869,552...125,214,824
JBrowse link
G Twnk twinkle mtDNA helicase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CTD
ClinVar
PMID:15668446 PMID:17614277 PMID:20301746 PMID:20479361 PMID:20659899 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
JBrowse link
Slowed Nerve Conduction Velocity, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Autosomal dominant slowed nerve conduction velocity
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9678704 PMID:10319589 PMID:14508709 PMID:21719701 PMID:25025039 More... NCBI chr16:74,647,147...74,738,784
Ensembl chr16:74,647,153...74,738,173
JBrowse link
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Spastic ataxia 1 ClinVar PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 4:158,021,454...158,028,905 JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic ataxia 1
OMIM
CTD
ClinVar
PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349
JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h17orf107 similar to human chromosome 17 open reading frame 107 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196
JBrowse link
G Camta2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,383,450...55,401,838
Ensembl chr10:55,383,450...55,401,558
JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530
JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,370,531...55,375,921
Ensembl chr10:55,366,975...55,375,921
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,401,989...55,414,364
Ensembl chr10:55,401,982...55,414,114
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17273843 PMID:17576681 PMID:24319291 PMID:24482476 More... NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545
JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631
JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,360,603...55,364,927
Ensembl chr10:55,360,543...55,364,927
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410
JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,377,249...55,383,404
Ensembl chr10:55,377,249...55,383,404
JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars2 methionyl-tRNA synthetase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic ataxia 3
OMIM
CTD
ClinVar
PMID:22448145 PMID:25741868 PMID:28492532 NCBI chr 9:56,720,408...56,729,991
Ensembl chr 9:56,720,983...56,723,820
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471 PMID:21450511 PMID:24033266 PMID:24180463 PMID:25741868 NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
JBrowse link
Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:35150594 PMID:36331550 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
JBrowse link
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kidins220 kinase D-interacting substrate 220 ISO ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27005418 PMID:28492532 More... NCBI chr 6:41,618,207...41,706,990
Ensembl chr 6:41,618,294...41,703,256
JBrowse link
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: Spastic tetraplegia and axial hypotonia, progressive OMIM
ClinVar
PMID:15050437 PMID:15208263 PMID:16945901 PMID:20075587 PMID:20472325 More... NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
spastic tetraplegia, thin corpus callosum, and progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a4 solute carrier family 1 member 4 ISO ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly OMIM
ClinVar
PMID:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 More... NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418
JBrowse link
SPOAN syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klc2 kinesin light chain 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SPOAN syndrome
OMIM
CTD
ClinVar
PMID:24482476 PMID:25741868 PMID:26385635 PMID:28492532 NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672
JBrowse link
Troyer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grid2 glutamate ionotropic receptor delta type subunit 2 ISO ClinVar Annotator: match by term: Troyer syndrome ClinVar PMID:24122788 NCBI chr 4:92,415,019...93,892,472
Ensembl chr 4:92,415,230...93,889,355
JBrowse link
G Spart spartin ISO
ISS
OMIM:275900
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SPART-related condition | ClinVar Annotator: match by term: Troyer syndrome
OMIM
MouseDO
CTD
ClinVar
PMID:12134148 PMID:18413476 PMID:20437587 PMID:20504295 PMID:23699601 More... NCBI chr 2:139,292,630...139,319,248
Ensembl chr 2:139,292,355...139,319,248
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        peripheral nervous system disease 4086
          neuropathy 3871
            motor peripheral neuropathy 1204
              Alstrom syndrome 14
              Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 0
              Charcot-Marie-Tooth disease + 660
              Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy 0
              Giant Axonal Neuropathy + 10
              Hagemoser Weinstein Bresnick Syndrome 0
              Hereditary Motor and Sensory Neuropathy with Excessive Myelin Folding Complex, Autosomal Recessive 0
              Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 0
              Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive 1
              Hereditary Thermosensitive Neuropathy 0
              PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE 1
              Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive 0
              Refsum disease + 81
              SPOAN syndrome 1
              Slowed Nerve Conduction Velocity, Autosomal Dominant 1
              Tamari Goodman Syndrome 0
              autosomal dominant distal hereditary motor neuronopathy 7 8
              essential tremor 2 0
              hereditary neuropathy with liability to pressure palsies 9
              hereditary spastic paraplegia + 447
              sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 6
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          neurodegenerative disease 4878
            Nervous System Heredodegenerative Disorders 3232
              motor peripheral neuropathy 1204
                Alstrom syndrome 14
                Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 0
                Charcot-Marie-Tooth disease + 660
                Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy 0
                Giant Axonal Neuropathy + 10
                Hagemoser Weinstein Bresnick Syndrome 0
                Hereditary Motor and Sensory Neuropathy with Excessive Myelin Folding Complex, Autosomal Recessive 0
                Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 0
                Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive 1
                Hereditary Thermosensitive Neuropathy 0
                PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE 1
                Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive 0
                Refsum disease + 81
                SPOAN syndrome 1
                Slowed Nerve Conduction Velocity, Autosomal Dominant 1
                Tamari Goodman Syndrome 0
                autosomal dominant distal hereditary motor neuronopathy 7 8
                essential tremor 2 0
                hereditary neuropathy with liability to pressure palsies 9
                hereditary spastic paraplegia + 447
                sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 6
paths to the root