Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Nervous System Heredodegenerative Disorders
go back to main search page
Accession:DOID:9001196 term browser browse the term
Definition:Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems.
Synonyms:exact_synonym: Degenerative Disease, Nervous System, Hereditary;   Degenerative Hereditary Disorders, Nervous System;   Hereditary Neurodegenerative Disease;   Hereditary Neurodegenerative Diseases;   Nervous System Degenerative Hereditary Diseases
 primary_id: MESH:D020271
 alt_id: RDO:0002544
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Nervous System Heredodegenerative Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYGB cytoglobin JBrowse link 9 4,191,114 4,201,438 RGD:9068941
G FTL ferritin light chain JBrowse link 1 107,418,457 107,419,923 RGD:9068941
G NGB neuroglobin JBrowse link 8 50,081,960 50,086,071 RGD:9068941
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 JBrowse link 34 14,199,507 14,204,736 RGD:7240710
adrenoleukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCD1 ATP binding cassette subfamily D member 1 JBrowse link X 121,545,690 121,564,117 RGD:7240710
RGD:9068941
G ACSBG1 acyl-CoA synthetase bubblegum family member 1 JBrowse link 3 58,319,222 58,367,087 RGD:9068941
G ARHGAP4 Rho GTPase activating protein 4 JBrowse link X 121,754,965 121,772,209 RGD:9068941
G ATP6AP1 ATPase H+ transporting accessory protein 1 JBrowse link X 122,133,314 122,140,949 RGD:9068941
G AVPR2 arginine vasopressin receptor 2 JBrowse link X 121,751,606 121,754,771 RGD:9068941
G BCAP31 B cell receptor associated protein 31 JBrowse link X 121,515,417 121,550,373 RGD:9068941
G DKC1 dyskerin pseudouridine synthase 1 JBrowse link X 122,838,787 122,850,870 RGD:9068941
G DNASE1L1 deoxyribonuclease 1 like 1 JBrowse link X 122,101,992 122,109,240 RGD:9068941
G EMD emerin JBrowse link X 122,050,309 122,052,629 RGD:9068941
G F8 coagulation factor VIII JBrowse link X 122,894,974 123,046,343 RGD:9068941
G FAM3A FAM3 metabolism regulating signaling molecule A JBrowse link X 122,205,043 122,212,626 RGD:9068941
G FAM50A family with sequence similarity 50 member A JBrowse link X 122,148,234 122,158,172 RGD:9068941
G FLNA filamin A JBrowse link X 122,058,303 122,083,467 RGD:9068941
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 122,217,317 122,231,862 RGD:9068941
G GAB3 GRB2 associated binding protein 3 JBrowse link X 122,741,199 122,822,446 RGD:9068941
G GDI1 GDP dissociation inhibitor 1 JBrowse link X 122,141,633 122,146,724 RGD:9068941
G HCFC1 host cell factor C1 JBrowse link X 121,790,585 121,815,395 RGD:9068941
G HMOX1 heme oxygenase 1 JBrowse link 10 28,744,404 28,751,544 RGD:9068941
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma JBrowse link X 121,599,368 121,608,707 RGD:9068941
G IFNG interferon gamma JBrowse link 10 10,406,866 10,411,698 RGD:9068941
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 122,232,052 122,253,499 RGD:9068941
G IRAK1 interleukin 1 receptor associated kinase 1 JBrowse link X 121,853,340 121,862,582 RGD:9068941
G L1CAM L1 cell adhesion molecule JBrowse link X 121,708,695 121,722,819 RGD:9068941
G LAGE3 L antigen family member 3 JBrowse link X 122,185,300 122,186,498 RGD:9068941
G LOC100683646 EKC/KEOPS complex subunit LAGE3-like JBrowse link X 122,566,522 122,567,799 RGD:9068941
G MECP2 methyl-CpG binding protein 2 JBrowse link X 121,866,721 121,876,088 RGD:9068941
G MMP2 matrix metallopeptidase 2 JBrowse link 2 60,471,092 60,492,991 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 24 33,274,260 33,281,116 RGD:9068941
G MPP1 membrane palmitoylated protein 1 JBrowse link X 122,851,667 122,878,865 RGD:9068941
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit JBrowse link X 121,777,658 121,782,097 RGD:9068941
G OPN1LW opsin 1, medium wave sensitive JBrowse link X 121,974,552 121,987,418 RGD:9068941
G PDZD4 PDZ domain containing 4 JBrowse link X 121,616,122 121,647,326 RGD:9068941
G PEX13 peroxisomal biogenesis factor 13 JBrowse link 10 61,113,213 61,130,157 RGD:9068941
G PEX26 peroxisomal biogenesis factor 26 JBrowse link 27 45,675,537 45,688,026 RGD:9068941
G PLXNA3 plexin A3 JBrowse link X 122,165,460 122,180,727 RGD:9068941
G PLXNB3 plexin B3 JBrowse link X 121,577,564 121,593,294 RGD:9068941
G RENBP renin binding protein JBrowse link X 121,782,411 121,788,928 RGD:9068941
G RPL10 ribosomal protein L10 JBrowse link X 122,098,020 122,100,719 RGD:9068941
G SLC10A3 solute carrier family 10 member 3 JBrowse link X 122,197,049 122,201,103 RGD:9068941
G SLC6A8 solute carrier family 6 member 8 JBrowse link X 121,505,117 121,511,674 RGD:9068941
G SMIM9 small integral membrane protein 9 JBrowse link X 122,885,491 122,893,466 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 1 48,943,472 48,955,158 RGD:9068941
G SRPK3 SRSF protein kinase 3 JBrowse link X 121,594,992 121,599,333 RGD:9068941
G SSR4 signal sequence receptor subunit 4 JBrowse link X 121,608,802 121,613,796 RGD:9068941
G TAZ tafazzin JBrowse link X 122,111,608 122,125,714 RGD:9068941
G TEX28 testis expressed 28 JBrowse link X 121,987,726 122,030,718 RGD:9068941
G TIMP1 TIMP metallopeptidase inhibitor 1 JBrowse link X 41,201,623 41,205,314 RGD:9068941
G TKTL1 transketolase like 1 JBrowse link X 122,007,270 122,034,500 RGD:9068941
G TMEM187 transmembrane protein 187 JBrowse link X 121,815,982 121,820,790 RGD:9068941
G UBL4A ubiquitin like 4A JBrowse link X 122,195,500 122,196,579 RGD:9068941
Adult Refsum Disease, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC478000 phytanoyl-CoA hydroxylase-like JBrowse link 2 23,185,901 23,206,719 RGD:9068941
Adult Refsum Disease, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PEX7 peroxisomal biogenesis factor 7 JBrowse link 1 29,337,362 29,423,608 RGD:7240710
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNB1 lamin B1 JBrowse link 11 15,996,627 16,052,719 RGD:7240710
Alexander Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC103 coiled-coil domain containing 103 JBrowse link 9 18,581,544 18,585,939 RGD:9068941
G GFAP glial fibrillary acidic protein JBrowse link 9 18,569,868 18,579,463 RGD:12801476
RGD:7240710
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC16A2 solute carrier family 16 member 2 JBrowse link X 57,845,865 57,859,827 RGD:7240710
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATR ATR serine/threonine kinase JBrowse link 23 38,131,956 38,223,888 RGD:9068941
G ATRX ATRX chromatin remodeler JBrowse link X 59,772,067 60,107,016 RGD:7240710
Alstrom syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALMS1 ALMS1 centrosome and basal body associated protein JBrowse link 17 49,301,397 49,513,729 RGD:7240710
RGD:9068941
Arts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PITX2 paired like homeodomain 2 JBrowse link 32 30,710,161 30,730,162 RGD:9068941
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 81,150,537 81,171,521 RGD:7240710
ataxia telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAT1 acetyl-CoA acetyltransferase 1 JBrowse link 5 24,361,301 24,379,807 RGD:9068941
G ATM ATM serine/threonine kinase JBrowse link 5 24,180,129 24,297,207 RGD:7240710
G BAK1 BCL2 antagonist/killer 1 JBrowse link 12 2,950,359 2,957,604 RGD:9068941
G BAX BCL2 associated X, apoptosis regulator JBrowse link 1 107,423,388 107,426,464 RGD:9068941
G BIK BCL2 interacting killer JBrowse link 10 22,417,374 22,433,055 RGD:9068941
G C5H11orf65 chromosome 5 C11orf65 homolog JBrowse link 5 24,106,696 24,166,686 RGD:9068941
G HDAC4 histone deacetylase 4 JBrowse link 25 49,318,621 49,545,314 RGD:9068941
G IFNG interferon gamma JBrowse link 10 10,406,866 10,411,698 RGD:9068941
G IL2 interleukin 2 JBrowse link 19 17,750,780 17,756,394 RGD:9068941
G IL6 interleukin 6 JBrowse link 14 36,474,268 36,478,519 RGD:9068941
G NPAT nuclear protein, coactivator of histone transcription JBrowse link 5 24,297,419 24,360,461 RGD:9068941
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MRE11 MRE11 homolog, double strand break repair nuclease JBrowse link 21 6,448,909 6,528,185 RGD:9068941
G PCNA proliferating cell nuclear antigen JBrowse link 24 16,478,774 16,485,992 RGD:9068941
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APTX aprataxin JBrowse link 11 50,111,003 50,155,937 RGD:7240710
RGD:9068941
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 1 106,695,649 106,707,229 RGD:9068941
ataxia with oculomotor apraxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APTX aprataxin JBrowse link 11 50,111,003 50,155,937 RGD:9068941
G SETX senataxin JBrowse link 9 51,900,004 51,980,694 RGD:7240710
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 JBrowse link 5 33,538,354 33,604,984 RGD:7240710
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 5 63,984,716 64,023,271 RGD:9068941
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 1 106,695,649 106,707,229 RGD:7240710
Ataxia-Telangiectasia Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATM ATM serine/threonine kinase JBrowse link 5 24,180,129 24,297,207 RGD:9068941
G C5H11orf65 chromosome 5 C11orf65 homolog JBrowse link 5 24,106,696 24,166,686 RGD:9068941
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MRE11 MRE11 homolog, double strand break repair nuclease JBrowse link 21 6,448,909 6,528,185 RGD:7240710
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCNA proliferating cell nuclear antigen JBrowse link 24 16,478,774 16,485,992 RGD:7240710
Atkin Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 JBrowse link X 44,861,813 44,915,011 RGD:9068941
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FDXR ferredoxin reductase JBrowse link 9 5,567,411 5,577,427 RGD:7240710
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNMT1 DNA methyltransferase 1 JBrowse link 20 50,872,213 50,928,352 RGD:7240710
autosomal dominant Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 13 38,451,722 38,466,481 RGD:7240710
autosomal recessive cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANO10 anoctamin 10 JBrowse link 23 2,678,659 2,900,490 RGD:9068941
G COQ8A coenzyme Q8A JBrowse link 7 38,085,441 38,123,037 RGD:9068941
G SPTBN2 spectrin beta, non-erythrocytic 2 JBrowse link 18 50,631,053 50,670,428 RGD:9068941
G SYNE1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1 42,384,136 42,831,229 RGD:9068941
G TDP1 tyrosyl-DNA phosphodiesterase 1 JBrowse link 8 61,023,564 61,107,599 RGD:9068941
G TWNK twinkle mtDNA helicase JBrowse link 28 13,672,772 13,680,732 RGD:9068941
autosomal recessive spinocerebellar ataxia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANO10 anoctamin 10 JBrowse link 23 2,678,659 2,900,490 RGD:7240710
autosomal recessive spinocerebellar ataxia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SYT14 synaptotagmin 14 JBrowse link 7 8,612,458 8,795,812 RGD:7240710
autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAF MAF bZIP transcription factor JBrowse link 5 71,965,291 71,982,903 RGD:9068941
G WWOX WW domain containing oxidoreductase JBrowse link 5 72,298,254 73,243,667 RGD:7240710
autosomal recessive spinocerebellar ataxia 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GRM1 glutamate metabotropic receptor 1 JBrowse link 1 37,205,817 37,600,048 RGD:7240710
autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPTBN2 spectrin beta, non-erythrocytic 2 JBrowse link 18 50,631,053 50,670,428 RGD:7240710
RGD:12801476
autosomal recessive spinocerebellar ataxia 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RUBCN rubicon autophagy regulator JBrowse link 33 28,947,439 29,011,737 RGD:7240710
autosomal recessive spinocerebellar ataxia 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JMJD8 jumonji domain containing 8 JBrowse link 6 39,891,930 39,894,549 RGD:9068941
G STUB1 STIP1 homology and U-box containing protein 1 JBrowse link 6 39,893,492 39,895,385 RGD:7240710
autosomal recessive spinocerebellar ataxia 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CWF19L1 CWF19 like 1, cell cycle control JBrowse link 28 13,003,948 13,033,369 RGD:7240710
autosomal recessive spinocerebellar ataxia 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GRID2 glutamate ionotropic receptor delta type subunit 2 JBrowse link 32 15,322,256 16,787,966 RGD:7240710
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC9A1 solute carrier family 9 member A1 JBrowse link 2 73,054,742 73,103,364 RGD:7240710
autosomal recessive spinocerebellar ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PMPCA peptidase, mitochondrial processing subunit alpha JBrowse link 9 49,073,124 49,083,302 RGD:7240710
autosomal recessive spinocerebellar ataxia 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MT-CYB mitochondrially encoded cytochrome b JBrowse link MT 14,183 15,322 RGD:9068941
G SNX14 sorting nexin 14 JBrowse link 12 45,526,042 45,598,868 RGD:12801476
RGD:7240710
autosomal recessive spinocerebellar ataxia 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCYL1 SCY1 like pseudokinase 1 JBrowse link 18 51,667,647 51,680,904 RGD:7240710
autosomal recessive spinocerebellar ataxia 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VWA3B von Willebrand factor A domain containing 3B JBrowse link 10 44,279,047 44,508,129 RGD:7240710
autosomal recessive spinocerebellar ataxia 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TDP2 tyrosyl-DNA phosphodiesterase 2 JBrowse link 35 22,693,203 22,707,054 RGD:7240710
autosomal recessive spinocerebellar ataxia 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UBA5 ubiquitin like modifier activating enzyme 5 JBrowse link 23 29,645,755 29,658,587 RGD:7240710
autosomal recessive spinocerebellar ataxia 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATG5 autophagy related 5 JBrowse link 12 63,565,859 63,692,383 RGD:7240710
autosomal recessive spinocerebellar ataxia 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G XRCC1 X-ray repair cross complementing 1 JBrowse link 1 111,548,719 111,571,816 RGD:7240710
autosomal recessive spinocerebellar ataxia 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDAP2 ganglioside induced differentiation associated protein 2 JBrowse link 17 55,143,495 55,225,016 RGD:7240710
Autosomal Recessive Spinocerebellar Ataxia 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G THG1L tRNA-histidine guanylyltransferase 1 like JBrowse link 4 52,548,481 52,587,582 RGD:7240710
autosomal recessive spinocerebellar ataxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VPS13D vacuolar protein sorting 13 homolog D JBrowse link 2 83,898,620 84,132,453 RGD:7240710
autosomal recessive spinocerebellar ataxia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TPP1 tripeptidyl peptidase 1 JBrowse link 21 29,921,764 29,926,974 RGD:7240710
autosomal recessive spinocerebellar ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ESR1 estrogen receptor 1 JBrowse link 1 42,081,952 42,368,544 RGD:9068941
G FBXO5 F-box protein 5 JBrowse link 1 43,138,338 43,149,546 RGD:9068941
G MTRF1L mitochondrial translational release factor 1 like JBrowse link 1 43,155,285 43,166,707 RGD:9068941
G MYCT1 MYC target 1 JBrowse link 1 42,886,997 42,908,813 RGD:9068941
G RGS17 regulator of G protein signaling 17 JBrowse link 1 43,170,815 43,264,277 RGD:9068941
G SYNE1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1 42,384,136 42,831,229 RGD:7240710
G VIP vasoactive intestinal peptide JBrowse link 1 42,941,655 42,950,160 RGD:9068941
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COA7 cytochrome c oxidase assembly factor 7 (putative) JBrowse link 15 8,706,047 8,718,184 RGD:7240710
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PITX2 paired like homeodomain 2 JBrowse link 32 30,710,161 30,730,162 RGD:7240710
G PRDM5 PR/SET domain 5 JBrowse link 19 19,129,418 19,327,377 RGD:9068941
Basilicata-Akhtar syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MSL3 MSL complex subunit 3 JBrowse link X 8,294,797 8,311,142 RGD:7240710
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PHF6 PHD finger protein 6 JBrowse link X 105,044,232 105,093,663 RGD:7240710
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FAM172A family with sequence similarity 172 member A JBrowse link 3 15,281,442 15,695,303 RGD:9068941
G KIAA0825 KIAA0825 JBrowse link 3 14,868,609 15,251,247 RGD:9068941
G NR2F1 nuclear receptor subfamily 2 group F member 1 JBrowse link 3 15,707,198 15,716,875 RGD:7240710
Boucher-Neuhauser syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNPLA6 patatin like phospholipase domain containing 6 JBrowse link 20 52,327,547 52,349,006 RGD:7240710
Brody myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 JBrowse link 6 18,384,981 18,400,038 RGD:7240710
G ATXN2L ataxin 2 like JBrowse link 6 18,342,953 18,355,421 RGD:9068941
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 JBrowse link 6 18,399,992 18,413,537 RGD:9068941
G SH2B1 SH2B adaptor protein 1 JBrowse link 6 18,370,881 18,380,965 RGD:9068941
G TUFM Tu translation elongation factor, mitochondrial JBrowse link 6 18,357,223 18,360,929 RGD:9068941
Canavan disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ASPA aspartoacylase JBrowse link 9 47,338,435 47,361,974 RGD:7240710
RGD:9068941
G CSPG4 chondroitin sulfate proteoglycan 4 JBrowse link 30 38,465,486 38,498,365 RGD:9068941
G CTNS cystinosin, lysosomal cystine transporter JBrowse link 9 47,474,488 47,490,951 RGD:9068941
G EMC6 ER membrane protein complex subunit 6 JBrowse link 9 47,497,354 47,498,861 RGD:9068941
G GLUD1 glutamate dehydrogenase 1 JBrowse link 4 34,629,046 34,662,711 RGD:9068941
G HASPIN histone H3 associated protein kinase JBrowse link 9 47,540,417 47,542,953 RGD:9068941
G ITGAE integrin subunit alpha E JBrowse link 9 47,510,846 47,596,830 RGD:9068941
G P2RX5 purinergic receptor P2X 5 JBrowse link 9 47,500,593 47,516,790 RGD:9068941
G SHPK sedoheptulokinase JBrowse link 9 47,445,969 47,486,756 RGD:9068941
G SPATA22 spermatogenesis associated 22 JBrowse link 9 47,322,817 47,338,202 RGD:9068941
G TAX1BP3 Tax1 binding protein 3 JBrowse link 9 47,492,371 47,497,298 RGD:9068941
G TRPV1 transient receptor potential cation channel subfamily V member 1 JBrowse link 9 47,404,987 47,443,871 RGD:9068941
G TRPV3 transient receptor potential cation channel subfamily V member 3 JBrowse link 9 47,365,275 47,398,198 RGD:9068941
CAPOS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 112,325,988 112,346,056 RGD:7240710
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 38 14,864,004 14,925,684 RGD:7240710
Cayman type cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATCAY ATCAY kinesin light chain interacting caytaxin JBrowse link 20 55,610,124 55,641,879 RGD:7240710
cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATCAY ATCAY kinesin light chain interacting caytaxin JBrowse link 20 55,610,124 55,641,879 RGD:9068941
G ATG4D autophagy related 4D cysteine peptidase JBrowse link 20 50,618,458 50,623,703 RGD:12801476
G ATM ATM serine/threonine kinase JBrowse link 5 24,180,129 24,297,207 RGD:9068941
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 JBrowse link 5 32,548,591 32,553,911 RGD:12801476
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 20 48,747,087 49,036,627 RGD:9068941
G CACNA1G calcium voltage-gated channel subunit alpha1 G JBrowse link 9 26,481,148 26,544,511 RGD:9068941
G CEP104 centrosomal protein 104 JBrowse link 5 58,301,767 58,339,920 RGD:9068941
G CIZ1 CDKN1A interacting zinc finger protein 1 JBrowse link 9 55,303,189 55,322,429 RGD:9068941
G CLCN2 chloride voltage-gated channel 2 JBrowse link 34 17,224,136 17,238,755 RGD:9068941
G COQ8A coenzyme Q8A JBrowse link 7 38,085,441 38,123,037 RGD:9068941
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial JBrowse link 7 25,378,705 25,406,975 RGD:9068941
G DNM1 dynamin 1 JBrowse link 9 55,252,802 55,298,244 RGD:9068941
G DNMT1 DNA methyltransferase 1 JBrowse link 20 50,872,213 50,928,352 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 8 69,997,021 70,064,886 RGD:9068941
G ESR1 estrogen receptor 1 JBrowse link 1 42,081,952 42,368,544 RGD:9068941
G GJB1 gap junction protein beta 1 JBrowse link X 55,565,995 55,575,332 RGD:9068941
G GRM1 glutamate metabotropic receptor 1 JBrowse link 1 37,205,817 37,600,048 RGD:12801476
G HARS1 histidyl-tRNA synthetase 1 JBrowse link 2 35,828,243 35,843,615 RGD:9068941
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 5 31,639,263 31,642,663 RGD:9068941
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 JBrowse link 20 12,746,171 13,065,256 RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 38 22,114,718 22,143,625 RGD:9068941
G KIF1C kinesin family member 1C JBrowse link 5 31,613,335 31,635,313 RGD:9068941
G KIF7 kinesin family member 7 JBrowse link 3 52,630,059 52,649,164 RGD:9068941
G L2HGDH L-2-hydroxyglutarate dehydrogenase JBrowse link 8 26,721,501 26,760,411 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 2 84,284,719 84,310,715 RGD:9068941
G MLC1 modulator of VRAC current 1 JBrowse link 10 17,139,912 17,164,666 RGD:9068941
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 7,964 8,644 RGD:9068941
G MT-CO3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,644 9,427 RGD:9068941
G NOP56 NOP56 ribonucleoprotein JBrowse link 24 18,561,407 18,566,770 RGD:9068941
G PMM2 phosphomannomutase 2 JBrowse link 6 33,346,969 33,371,095 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 3 52,357,062 52,373,768 RGD:9068941
G POMT1 protein O-mannosyltransferase 1 JBrowse link 9 52,615,349 52,631,538 RGD:9068941
G PTRH2 peptidyl-tRNA hydrolase 2 JBrowse link 9 34,188,459 34,197,004 RGD:9068941
G RAB24 RAB24, member RAS oncogene family JBrowse link 4 36,055,190 36,059,945 RGD:12801476
G RFC1 replication factor C subunit 1 JBrowse link 3 73,062,292 73,136,576 RGD:9068941
G RPGRIP1L RPGRIP1 like JBrowse link 2 62,080,159 62,179,694 RGD:9068941
G RPL27A ribosomal protein L27a JBrowse link 21 32,099,792 32,102,761 RGD:9068941
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 27 3,174,257 3,348,349 RGD:9068941
G SEL1L SEL1L adaptor subunit of ERAD E3 ubiquitin ligase JBrowse link 8 53,767,799 53,824,391 RGD:12801476
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 3 85,071,011 85,106,272 RGD:9068941
G SETX senataxin JBrowse link 9 51,900,004 51,980,694 RGD:9068941
G SLC2A1 solute carrier family 2 member 1 JBrowse link 15 463,307 493,145 RGD:9068941
G SNX14 sorting nexin 14 JBrowse link 12 45,526,042 45,598,868 RGD:9068941
G SPART spartin JBrowse link 25 4,256,177 4,302,854 RGD:9068941
G SPTBN2 spectrin beta, non-erythrocytic 2 JBrowse link 18 50,631,053 50,670,428 RGD:9068941
G SURF1 SURF1 cytochrome c oxidase assembly factor JBrowse link 9 49,786,562 49,790,004 RGD:9068941
G SYNE1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1 42,384,136 42,831,229 RGD:9068941
G SYNGAP1 synaptic Ras GTPase activating protein 1 JBrowse link 12 2,829,274 2,862,888 RGD:9068941
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FANCI FA complementation group I JBrowse link 3 52,282,955 52,357,874 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 3 52,357,062 52,373,768 RGD:9068941
cerebellar ataxia type 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRPC3 transient receptor potential cation channel subfamily C member 3 JBrowse link 19 18,207,565 18,272,551 RGD:7240710
cerebellar ataxia type 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA1G calcium voltage-gated channel subunit alpha1 G JBrowse link 9 26,481,148 26,544,511 RGD:7240710
cerebellar ataxia type 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MME membrane metalloendopeptidase JBrowse link 23 48,966,222 49,059,919 RGD:7240710
cerebellar ataxia type 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PUM1 pumilio RNA binding family member 1 JBrowse link 2 69,907,655 70,044,055 RGD:7240710
cerebellar ataxia type 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JMJD8 jumonji domain containing 8 JBrowse link 6 39,891,930 39,894,549 RGD:9068941
G STUB1 STIP1 homology and U-box containing protein 1 JBrowse link 6 39,893,492 39,895,385 RGD:7240710
cerebellar ataxia, mental retardation and dysequlibrium syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP8A2 ATPase phospholipid transporting 8A2 JBrowse link 25 13,490,550 14,066,942 RGD:9068941
G VLDLR very low density lipoprotein receptor JBrowse link 1 91,242,010 91,277,030 RGD:12801476
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VLDLR very low density lipoprotein receptor JBrowse link 1 91,242,010 91,277,030 RGD:7240710
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WDR81 WD repeat domain 81 JBrowse link 9 45,860,200 45,875,439 RGD:7240710
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CA8 carbonic anhydrase 8 JBrowse link 29 10,678,122 10,763,361 RGD:7240710
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP8A2 ATPase phospholipid transporting 8A2 JBrowse link 25 13,490,550 14,066,942 RGD:7240710
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELF2 E74 like ETS transcription factor 2 JBrowse link 19 3,482,845 3,580,380 RGD:9068941
G RFC1 replication factor C subunit 1 JBrowse link 3 73,062,292 73,136,576 RGD:7240710
Cerebellar Atrophy with Seizures and Variable Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 20 38,859,047 38,995,239 RGD:7240710
G CYB561D2 cytochrome b561 family member D2 JBrowse link 20 39,002,941 39,007,085 RGD:9068941
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 4 26,844,250 27,338,271 RGD:7240710
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EMC1 ER membrane protein complex subunit 1 JBrowse link 2 79,367,154 79,393,096 RGD:7240710
Cerebellar Hypoplasia with Endosteal Sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POLR3B RNA polymerase III subunit B JBrowse link 10 32,202,188 32,309,775 RGD:9068941
Cerebellofaciodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit JBrowse link 8 72,588,578 72,632,259 RGD:7240710
Cerebrooculofacioskeletal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 28 1,358,383 1,432,276 RGD:9068941
Cerebrooculofacioskeletal Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 110,173,781 110,191,612 RGD:9068941
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 28 1,358,383 1,432,276 RGD:7240710
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 110,173,781 110,191,612 RGD:7240710
Cerebrooculofacioskeletal Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC5 ERCC excision repair 5, endonuclease JBrowse link 22 52,339,011 52,372,618 RGD:7240710
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 110,130,353 110,146,660 RGD:7240710
G POLR1G RNA polymerase I subunit G JBrowse link 1 110,146,495 110,149,338 RGD:9068941
Charcot-Marie-Tooth disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS1 alanyl-tRNA synthetase 1 JBrowse link 5 76,288,780 76,343,262 RGD:9068941
G ARF1 ADP ribosylation factor 1 JBrowse link 14 835,476 836,424 RGD:9068941
G ARHGEF10 Rho guanine nucleotide exchange factor 10 JBrowse link 16 54,293,534 54,378,706 RGD:9068941
G ATL1 atlastin GTPase 1 JBrowse link 8 26,959,697 27,034,190 RGD:9068941
G ATP7A ATPase copper transporting alpha JBrowse link X 60,203,336 60,356,525 RGD:9068941
G BAG3 BAG cochaperone 3 JBrowse link 28 29,792,612 29,815,466 RGD:9068941
G BICD2 BICD cargo adaptor 2 JBrowse link 1 98,697,050 98,736,296 RGD:9068941
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 18 53,958,380 53,971,120 RGD:9068941
G CNTNAP2 contactin associated protein 2 JBrowse link 16 2,239,953 4,208,718 RGD:9068941
G CTDP1 CTD phosphatase subunit 1 JBrowse link 1 886,973 945,994 RGD:9068941
G DCTN1 dynactin subunit 1 JBrowse link 17 48,728,096 48,759,187 RGD:9068941
G DCTN2 dynactin subunit 2 JBrowse link 10 1,620,702 1,634,385 RGD:9068941
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 37 25,826,496 25,834,011 RGD:9068941
G DNM2 dynamin 2 JBrowse link 20 50,398,866 50,487,303 RGD:9068941
G DNMT1 DNA methyltransferase 1 JBrowse link 20 50,872,213 50,928,352 RGD:9068941
G DST dystonin JBrowse link 12 23,715,637 24,195,220 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 8 69,997,021 70,064,886 RGD:9068941
G EGR2 early growth response 2 JBrowse link 4 14,705,384 14,810,130 RGD:9068941
G ELP1 elongator complex protein 1 JBrowse link 11 64,035,667 64,094,402 RGD:9068941
G FBXO38 F-box protein 38 JBrowse link 4 60,360,543 60,416,727 RGD:9068941
G FGD4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 27 16,252,405 16,464,099 RGD:9068941
G FIG4 FIG4 phosphoinositide 5-phosphatase JBrowse link 12 66,508,801 66,632,830 RGD:9068941
G GAN gigaxonin JBrowse link 5 70,518,667 70,579,398 RGD:9068941
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 14 43,308,274 43,351,999 RGD:9068941
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 29 22,805,468 22,835,909 RGD:9068941
G GJB1 gap junction protein beta 1 JBrowse link X 55,565,995 55,575,332 RGD:9068941
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta JBrowse link 17 20,355,778 20,399,869 RGD:9068941
G HINT1 histidine triad nucleotide binding protein 1 JBrowse link 11 19,551,057 19,555,390 RGD:9068941
G HOXD10 homeobox D10 JBrowse link 36 19,924,352 19,927,706 RGD:9068941
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 6 7,487,164 7,488,576 RGD:9068941
G HSPB8 heat shock protein family B (small) member 8 JBrowse link 26 15,337,718 15,349,993 RGD:9068941
G IFRD1 interferon related developmental regulator 1 JBrowse link 14 52,053,423 52,078,419 RGD:9068941
G IGHMBP2 immunoglobulin mu DNA binding protein 2 JBrowse link 18 49,063,748 49,090,625 RGD:9068941
G KARS1 lysyl-tRNA synthetase 1 JBrowse link 5 75,172,976 75,188,197 RGD:9068941
G KIF1B kinesin family member 1B JBrowse link 5 63,367,294 63,516,388 RGD:9068941
G LAMA2 laminin subunit alpha 2 JBrowse link 1 67,645,461 68,096,506 RGD:9068941
G LITAF lipopolysaccharide induced TNF factor JBrowse link 6 31,229,153 31,259,670 RGD:9068941
G LMNA lamin A/C JBrowse link 7 41,702,491 41,719,870 RGD:9068941
G LOC490877 inverted formin, FH2 and WH2 domain containing JBrowse link 8 72,267,790 72,273,793 RGD:9068941
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 55,855,576 55,894,915 RGD:9068941
G MARS1 methionyl-tRNA synthetase 1 JBrowse link 10 1,588,503 1,606,752 RGD:9068941
G MED25 mediator complex subunit 25 JBrowse link 1 106,723,737 106,740,077 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 2 84,284,719 84,310,715 RGD:9068941
G MORC2 MORC family CW-type zinc finger 2 JBrowse link 26 23,951,704 23,993,620 RGD:9068941
G MPZ myelin protein zero JBrowse link 38 21,205,339 21,210,439 RGD:7240710
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 7,964 8,644 RGD:9068941
G MTMR2 myotubularin related protein 2 JBrowse link 21 5,194,772 5,316,441 RGD:9068941
G MYH14 myosin heavy chain 14 JBrowse link 1 106,371,952 106,460,388 RGD:9068941
G NDRG1 N-myc downstream regulated 1 JBrowse link 13 29,689,294 29,745,964 RGD:9068941
G NEFL neurofilament light JBrowse link 25 32,463,361 32,468,965 RGD:9068941
G NGF nerve growth factor JBrowse link 17 52,900,647 52,901,607 RGD:9068941
G NRG1 neuregulin 1 JBrowse link 16 31,697,958 32,771,888 RGD:9068941
G NTRK1 neurotrophic receptor tyrosine kinase 1 JBrowse link 7 41,140,931 41,159,326 RGD:9068941
G NTRK2 neurotrophic receptor tyrosine kinase 2 JBrowse link 1 74,447,927 74,777,910 RGD:9068941
G PLD3 phospholipase D family member 3 JBrowse link 1 113,305,146 113,322,705 RGD:9068941
G PMP22 peripheral myelin protein 22 JBrowse link 5 38,806,731 38,839,002 RGD:7240710
G POLR2F RNA polymerase II, I and III subunit F JBrowse link 10 26,694,895 26,707,451 RGD:9068941
G PRX periaxin JBrowse link 1 113,279,940 113,294,042 RGD:9068941
G RAB7A RAB7A, member RAS oncogene family JBrowse link 20 2,704,716 2,776,518 RGD:9068941
G REEP1 receptor accessory protein 1 JBrowse link 17 38,807,217 38,908,434 RGD:9068941
G RETREG1 reticulophagy regulator 1 JBrowse link 4 86,817,391 86,921,119 RGD:9068941
G SBF1 SET binding factor 1 JBrowse link 10 16,823,456 16,845,800 RGD:9068941
G SBF2 SET binding factor 2 JBrowse link 21 33,005,921 33,461,258 RGD:9068941
G SCN11A sodium voltage-gated channel alpha subunit 11 JBrowse link 23 8,559,804 8,651,448 RGD:9068941
G SCN9A sodium voltage-gated channel alpha subunit 9 JBrowse link 36 11,287,358 11,382,897 RGD:9068941
G SDHC succinate dehydrogenase complex subunit C JBrowse link 38 21,162,850 21,200,429 RGD:9068941
G SEMA5A semaphorin 5A JBrowse link 34 4,612,202 5,089,071 RGD:9068941
G SEPTIN9 septin 9 JBrowse link 9 3,495,764 3,571,755 RGD:9068941
G SETX senataxin JBrowse link 9 51,900,004 51,980,694 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 4 59,801,240 59,905,759 RGD:9068941
G SLC12A6 solute carrier family 12 member 6 JBrowse link 30 773,021 860,936 RGD:9068941
G SLC25A46 solute carrier family 25 member 46 JBrowse link 3 1,700,310 1,715,841 RGD:9068941
G SLC5A7 solute carrier family 5 member 7 JBrowse link 10 35,879,880 35,908,203 RGD:9068941
G SORD sorbitol dehydrogenase JBrowse link 30 11,467,259 11,501,166 RGD:9068941
G SOX10 SRY-box transcription factor 10 JBrowse link 10 26,680,441 26,690,530 RGD:9068941
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 JBrowse link 1 94,997,240 95,062,424 RGD:9068941
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 JBrowse link 8 50,291,797 50,401,202 RGD:9068941
G TFG trafficking from ER to golgi regulator JBrowse link 33 7,240,912 7,265,526 RGD:9068941
G TNFRSF11B TNF receptor superfamily member 11b JBrowse link 13 18,155,765 18,183,263 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 26 17,293,334 17,330,156 RGD:9068941
G WNK1 WNK lysine deficient protein kinase 1 JBrowse link 27 42,764,184 42,914,591 RGD:9068941
G YARS1 tyrosyl-tRNA synthetase 1 JBrowse link 2 68,535,402 68,566,197 RGD:9068941
Charcot-Marie-Tooth disease axonal type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 29 22,805,468 22,835,909 RGD:9068941
G NEFH neurofilament heavy JBrowse link 26 22,726,523 22,735,129 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 26 17,293,334 17,330,156 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2CC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEFH neurofilament heavy JBrowse link 26 22,726,523 22,735,129 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 6 7,487,164 7,488,576 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELOC elongin C JBrowse link 29 22,452,254 22,476,523 RGD:9068941
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 29 22,805,468 22,835,909 RGD:7240710
G JPH1 junctophilin 1 JBrowse link 29 22,701,531 22,785,712 RGD:7240710
G LY96 lymphocyte antigen 96 JBrowse link 29 22,493,757 22,515,147 RGD:9068941
G TMEM70 transmembrane protein 70 JBrowse link 29 22,475,961 22,487,920 RGD:9068941
G UBE2W ubiquitin conjugating enzyme E2 W JBrowse link 29 22,307,192 22,409,667 RGD:9068941
Charcot-Marie-Tooth disease axonal type 2L term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HSPB8 heat shock protein family B (small) member 8 JBrowse link 26 15,337,718 15,349,993 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2N term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS1 alanyl-tRNA synthetase 1 JBrowse link 5 76,288,780 76,343,262 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 8 69,997,021 70,064,886 RGD:7240710
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma JBrowse link 8 69,846,311 69,969,409 RGD:9068941
Charcot-Marie-Tooth disease axonal type 2P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 55,855,576 55,894,915 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2Q term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 JBrowse link 2 24,298,323 24,349,848 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2S term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IGHMBP2 immunoglobulin mu DNA binding protein 2 JBrowse link 18 49,063,748 49,090,625 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2T term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 37 25,826,496 25,834,011 RGD:9068941
G MME membrane metalloendopeptidase JBrowse link 23 48,966,222 49,059,919 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2U term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MARS1 methionyl-tRNA synthetase 1 JBrowse link 10 1,588,503 1,606,752 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NAGLU N-acetyl-alpha-glucosaminidase JBrowse link 9 20,407,296 20,414,094 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2X term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPG11 SPG11 vesicle trafficking associated, spatacsin JBrowse link 30 11,233,709 11,305,454 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2Z term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MORC2 MORC family CW-type zinc finger 2 JBrowse link 26 23,951,704 23,993,620 RGD:7240710
Charcot-Marie-Tooth disease dominant intermediate B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNM2 dynamin 2 JBrowse link 20 50,398,866 50,487,303 RGD:7240710
Charcot-Marie-Tooth disease dominant intermediate C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A3GALT2 alpha 1,3-galactosyltransferase 2 JBrowse link 2 68,117,648 68,138,610 RGD:9068941
G ADPRS ADP-ribosylserine hydrolase JBrowse link 15 6,116,516 6,122,330 RGD:9068941
G AGO1 argonaute RISC component 1 JBrowse link 15 6,258,359 6,294,911 RGD:9068941
G AGO3 argonaute RISC catalytic component 3 JBrowse link 15 6,133,303 6,253,032 RGD:9068941
G AGO4 argonaute RISC component 4 JBrowse link 15 6,325,899 6,351,748 RGD:9068941
G AK2 adenylate kinase 2 JBrowse link 2 68,342,769 68,371,769 RGD:9068941
G AKIRIN1 akirin 1 JBrowse link 15 3,759,559 3,771,651 RGD:9068941
G AKR1A1 aldo-keto reductase family 1 member A1 JBrowse link 15 14,792,398 14,808,805 RGD:9068941
G ARMH1 armadillo like helical domain containing 1 JBrowse link 15 15,590,451 15,640,089 RGD:9068941
G ATP6V0B ATPase H+ transporting V0 subunit b JBrowse link 15 16,282,490 16,285,776 RGD:9068941
G AZIN2 antizyme inhibitor 2 JBrowse link 2 68,288,554 68,323,710 RGD:9068941
G B4GALT2 beta-1,4-galactosyltransferase 2 JBrowse link 15 16,272,051 16,281,028 RGD:9068941
G BEST4 bestrophin 4 JBrowse link 15 15,535,179 15,539,047 RGD:9068941
G BTBD19 BTB domain containing 19 JBrowse link 15 15,511,430 15,516,611 RGD:9068941
G C15H1orf109 chromosome 15 C1orf109 homolog JBrowse link 15 4,810,059 4,816,223 RGD:9068941
G C15H1orf122 chromosome 15 C1orf122 homolog JBrowse link 15 4,723,244 4,724,512 RGD:9068941
G C15H1orf210 chromosome 15 C1orf210 homolog JBrowse link 15 16,880,339 16,884,584 RGD:9068941
G C15H1orf216 chromosome 15 C1orf216 homolog JBrowse link 15 6,443,334 6,448,284 RGD:9068941
G C15H1orf50 chromosome 15 C1orf50 homolog JBrowse link 15 595,391 603,176 RGD:9068941
G C15H1orf94 chromosome 15 C1orf94 homolog JBrowse link 15 7,654,546 7,691,562 RGD:9068941
G CAP1 cyclase associated actin cytoskeleton regulatory protein 1 JBrowse link 15 2,886,661 2,913,975 RGD:9068941
G CCDC17 coiled-coil domain containing 17 JBrowse link 15 14,735,383 14,740,146 RGD:9068941
G CCDC24 coiled-coil domain containing 24 JBrowse link 15 16,267,994 16,269,499 RGD:9068941
G CCDC30 coiled-coil domain containing 30 JBrowse link 15 691,771 759,443 RGD:9068941
G CDC20 cell division cycle 20 JBrowse link 15 16,803,204 16,806,935 RGD:9068941
G CDCA8 cell division cycle associated 8 JBrowse link 15 4,796,980 4,809,914 RGD:9068941
G CFAP57 cilia and flagella associated protein 57 JBrowse link 15 16,903,470 16,977,825 RGD:9068941
G CLDN19 claudin 19 JBrowse link 15 626,721 631,643 RGD:9068941
G CLSPN claspin JBrowse link 15 6,400,084 6,430,295 RGD:9068941
G COL8A2 collagen type VIII alpha 2 chain JBrowse link 15 6,095,872 6,115,538 RGD:9068941
G COL9A2 collagen type IX alpha 2 chain JBrowse link 15 2,615,428 2,661,552 RGD:9068941
G CSF3R colony stimulating factor 3 receptor JBrowse link 15 5,818,985 5,832,455 RGD:9068941
G CSMD2 CUB and Sushi multiple domains 2 JBrowse link 15 7,753,901 8,191,506 RGD:9068941
G CTPS1 CTP synthase 1 JBrowse link 15 2,067,767 2,093,014 RGD:9068941
G DLGAP3 DLG associated protein 3 JBrowse link 15 7,058,367 7,123,604 RGD:9068941
G DMAP1 DNA methyltransferase 1 associated protein 1 JBrowse link 15 16,077,164 16,085,666 RGD:9068941
G DNALI1 dynein axonemal light intermediate chain 1 JBrowse link 15 4,916,747 4,922,893 RGD:9068941
G DPH2 diphthamide biosynthesis 2 JBrowse link 15 16,287,300 16,291,079 RGD:9068941
G EBNA1BP2 EBNA1 binding protein 2 JBrowse link 15 16,977,855 16,986,208 RGD:9068941
G EDN2 endothelin 2 JBrowse link 15 1,647,966 1,654,272 RGD:9068941
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma JBrowse link 15 15,337,421 15,481,427 RGD:9068941
G ELOVL1 ELOVL fatty acid elongase 1 JBrowse link 15 16,798,305 16,803,071 RGD:9068941
G ERI3 ERI1 exoribonuclease family member 3 JBrowse link 15 15,948,986 16,076,804 RGD:9068941
G ERMAP erythroblast membrane associated protein JBrowse link 15 527,726 543,364 RGD:9068941
G EVA1B eva-1 homolog B JBrowse link 15 5,939,279 5,940,890 RGD:9068941
G EXO5 exonuclease 5 JBrowse link 15 2,497,292 2,502,776 RGD:9068941
G FAM183A family with sequence similarity 183 member A JBrowse link 15 16,990,826 17,000,220 RGD:9068941
G FHL3 four and a half LIM domains 3 JBrowse link 15 4,588,101 4,590,994 RGD:9068941
G FNDC5 fibronectin type III domain containing 5 JBrowse link 2 68,485,941 68,493,491 RGD:9068941
G FOXJ3 forkhead box J3 JBrowse link 15 941,301 1,081,389 RGD:9068941
G FOXO6 forkhead box O6 JBrowse link 15 1,752,498 1,754,840 RGD:9068941
G GJA4 gap junction protein alpha 4 JBrowse link 15 7,167,665 7,170,388 RGD:9068941
G GJA9 gap junction protein alpha 9 JBrowse link 15 3,862,418 3,864,296 RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 15 7,175,010 7,177,145 RGD:9068941
G GJB4 gap junction protein beta 4 JBrowse link 15 7,193,183 7,195,586 RGD:9068941
G GJB5 gap junction protein beta 5 JBrowse link 15 7,196,720 7,199,652 RGD:9068941
G GNL2 G protein nucleolar 2 JBrowse link 15 4,890,318 4,915,229 RGD:9068941
G GPBP1L1 GC-rich promoter binding protein 1 like 1 JBrowse link 15 14,672,628 14,734,045 RGD:9068941
G GRIK3 glutamate ionotropic receptor kainate type subunit 3 JBrowse link 15 5,331,746 5,550,975 RGD:9068941
G GUCA2A guanylate cyclase activator 2A JBrowse link 15 1,090,109 1,091,277 RGD:9068941
G GUCA2B guanylate cyclase activator 2B JBrowse link 15 1,094,283 1,096,605 RGD:9068941
G HECTD3 HECT domain E3 ubiquitin protein ligase 3 JBrowse link 15 15,319,264 15,328,034 RGD:9068941
G HEYL hes related family bHLH transcription factor with YRPW motif like JBrowse link 15 3,242,738 3,257,275 RGD:9068941
G HIVEP3 HIVEP zinc finger 3 JBrowse link 15 1,302,964 1,626,834 RGD:9068941
G HMGB4 high mobility group box 4 JBrowse link 15 7,915,066 7,915,803 RGD:9068941
G HPCA hippocalcin JBrowse link 2 68,464,631 68,473,661 RGD:9068941
G HPCAL4 hippocalcin like 4 JBrowse link 15 3,196,653 3,205,191 RGD:9068941
G HPDL 4-hydroxyphenylpyruvate dioxygenase like JBrowse link 15 15,019,273 15,028,932 RGD:9068941
G HYI hydroxypyruvate isomerase (putative) JBrowse link 15 16,726,441 16,729,070 RGD:9068941
G INPP5B inositol polyphosphate-5-phosphatase B JBrowse link 15 4,627,536 4,678,611 RGD:9068941
G IPO13 importin 13 JBrowse link 15 16,293,293 16,313,841 RGD:9068941
G IPP intracisternal A particle-promoted polypeptide JBrowse link 15 14,621,969 14,669,728 RGD:9068941
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 15 2,203,938 2,257,152 RGD:9068941
G KDM4A lysine demethylase 4A JBrowse link 15 16,521,760 16,570,965 RGD:9068941
G KIAA0319L KIAA0319 like JBrowse link 15 6,583,519 6,674,868 RGD:9068941
G KIF2C kinesin family member 2C JBrowse link 15 15,558,024 15,579,371 RGD:9068941
G KLF17 Kruppel like factor 17 JBrowse link 15 16,147,898 16,160,548 RGD:9068941
G LOC100855618 bone morphogenetic protein 8B JBrowse link 15 3,325,155 3,357,888 RGD:9068941
G LOC482454 zinc finger protein 684 JBrowse link 15 2,476,742 2,502,729 RGD:9068941
G LSM10 LSM10, U7 small nuclear RNA associated JBrowse link 15 5,886,029 5,888,859 RGD:9068941
G MACF1 microtubule actin crosslinking factor 1 JBrowse link 15 3,361,887 3,703,891 RGD:9068941
G MANEAL mannosidase endo-alpha like JBrowse link 15 4,729,209 4,733,832 RGD:9068941
G MAP7D1 MAP7 domain containing 1 JBrowse link 15 6,046,055 6,068,701 RGD:9068941
G MAST2 microtubule associated serine/threonine kinase 2 JBrowse link 15 14,361,225 14,569,502 RGD:9068941
G MEAF6 MYST/Esa1 associated factor 6 JBrowse link 15 4,944,059 4,971,573 RGD:9068941
G MED8 mediator complex subunit 8 JBrowse link 15 16,780,514 16,786,013 RGD:9068941
G MFSD2A major facilitator superfamily domain containing 2A JBrowse link 15 2,966,433 2,979,030 RGD:9068941
G MIR30C-1 microRNA mir-30c-1 JBrowse link 15 2,280,050 2,280,110 RGD:9068941
G MMACHC metabolism of cobalamin associated C JBrowse link 15 14,857,236 14,863,211 RGD:9068941
G MPL MPL proto-oncogene, thrombopoietin receptor JBrowse link 15 16,815,102 16,825,321 RGD:9068941
G MRPS15 mitochondrial ribosomal protein S15 JBrowse link 15 5,836,267 5,841,581 RGD:9068941
G MTF1 metal regulatory transcription factor 1 JBrowse link 15 4,679,945 4,723,111 RGD:9068941
G MUTYH mutY DNA glycosylase JBrowse link 15 15,018,345 15,026,539 RGD:9068941
G MYCBP MYC binding protein JBrowse link 15 3,865,175 3,870,938 RGD:9068941
G MYCL MYCL proto-oncogene, bHLH transcription factor JBrowse link 15 2,975,757 3,019,313 RGD:9068941
G NASP nuclear autoantigenic sperm protein JBrowse link 15 14,742,008 14,782,186 RGD:9068941
G NCDN neurochondrin JBrowse link 15 6,573,936 6,583,168 RGD:9068941
G NDUFS5 NADH:ubiquinone oxidoreductase subunit S5 JBrowse link 15 3,741,863 3,748,973 RGD:9068941
G NFYC nuclear transcription factor Y subunit gamma JBrowse link 15 2,268,050 2,334,939 RGD:9068941
G NT5C1A 5'-nucleotidase, cytosolic IA JBrowse link 15 3,209,771 3,230,104 RGD:9068941
G OSCP1 organic solute carrier partner 1 JBrowse link 15 5,857,122 5,876,457 RGD:9068941
G P3H1 prolyl 3-hydroxylase 1 JBrowse link 15 603,436 621,839 RGD:9068941
G PHC2 polyhomeotic homolog 2 JBrowse link 2 67,993,587 68,115,307 RGD:9068941
G PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 JBrowse link 15 14,222,059 14,357,200 RGD:9068941
G PLK3 polo like kinase 3 JBrowse link 15 15,519,042 15,523,960 RGD:9068941
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 15 14,176,932 14,187,181 RGD:9068941
G POU3F1 POU class 3 homeobox 1 JBrowse link 15 4,547,868 4,549,469 RGD:9068941
G PPCS phosphopantothenoylcysteine synthetase JBrowse link 15 813,435 817,732 RGD:9068941
G PPIE peptidylprolyl isomerase E JBrowse link 15 3,156,067 3,173,028 RGD:9068941
G PPIH peptidylprolyl isomerase H JBrowse link 15 671,323 689,627 RGD:9068941
G PPT1 palmitoyl-protein thioesterase 1 JBrowse link 15 2,815,428 2,886,474 RGD:9068941
G PRDX1 peroxiredoxin 1 JBrowse link 15 14,834,009 14,855,665 RGD:9068941
G PSMB2 proteasome 20S subunit beta 2 JBrowse link 15 6,511,281 6,544,859 RGD:9068941
G PTCH2 patched 2 JBrowse link 15 15,488,357 15,503,748 RGD:9068941
G PTPRF protein tyrosine phosphatase receptor type F JBrowse link 15 16,590,908 16,666,673 RGD:9068941
G RHBDL2 rhomboid like 2 JBrowse link 15 3,805,257 3,854,983 RGD:9068941
G RIMKLA ribosomal modification protein rimK like family member A JBrowse link 15 853,705 888,721 RGD:9068941
G RIMS3 regulating synaptic membrane exocytosis 3 JBrowse link 15 2,353,876 2,391,742 RGD:9068941
G RLF RLF zinc finger JBrowse link 15 2,723,511 2,815,305 RGD:9068941
G RNF19B ring finger protein 19B JBrowse link 2 68,413,020 68,435,216 RGD:9068941
G RNF220 ring finger protein 220 JBrowse link 15 15,664,025 15,898,564 RGD:9068941
G RPS8 ribosomal protein S8 JBrowse link 15 15,542,569 15,545,285 RGD:9068941
G RRAGC Ras related GTP binding C JBrowse link 15 3,875,193 3,892,501 RGD:9068941
G RSPO1 R-spondin 1 JBrowse link 15 4,857,887 4,876,077 RGD:9068941
G S100PBP S100P binding protein JBrowse link 2 68,495,783 68,535,847 RGD:9068941
G SCMH1 Scm polycomb group protein homolog 1 JBrowse link 15 1,917,503 2,056,325 RGD:9068941
G SF3A3 splicing factor 3a subunit 3 JBrowse link 15 4,595,812 4,620,565 RGD:9068941
G SFPQ splicing factor proline and glutamine rich JBrowse link 15 6,879,955 6,896,309 RGD:9068941
G SH3D21 SH3 domain containing 21 JBrowse link 15 5,941,581 5,954,878 RGD:9068941
G SLC2A1 solute carrier family 2 member 1 JBrowse link 15 463,307 493,145 RGD:9068941
G SLC6A9 solute carrier family 6 member 9 JBrowse link 15 16,235,342 16,267,161 RGD:9068941
G SLFNL1 schlafen like 1 JBrowse link 15 2,060,354 2,065,698 RGD:9068941
G SMAP2 small ArfGAP2 JBrowse link 15 2,568,287 2,614,963 RGD:9068941
G SMIM12 small integral membrane protein 12 JBrowse link 15 7,121,532 7,126,450 RGD:9068941
G SNIP1 Smad nuclear interacting protein 1 JBrowse link 15 4,924,035 4,934,565 RGD:9068941
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 15 16,324,752 16,434,256 RGD:9068941
G STK40 serine/threonine kinase 40 JBrowse link 15 5,894,125 5,934,461 RGD:9068941
G SVBP small vasohibin binding protein JBrowse link 15 551,514 558,528 RGD:9068941
G SZT2 SZT2 subunit of KICSTOR complex JBrowse link 15 16,729,068 16,780,549 RGD:9068941
G TCTEX1D4 Tctex1 domain containing 4 JBrowse link 15 15,516,950 15,519,137 RGD:9068941
G TEKT2 tektin 2 JBrowse link 15 6,122,855 6,126,411 RGD:9068941
G TESK2 testis associated actin remodelling kinase 2 JBrowse link 15 14,871,104 15,014,896 RGD:9068941
G TFAP2E transcription factor AP-2 epsilon JBrowse link 15 6,552,255 6,556,863 RGD:9068941
G THRAP3 thyroid hormone receptor associated protein 3 JBrowse link 15 5,955,469 6,022,442 RGD:9068941
G TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 JBrowse link 15 16,838,267 16,857,004 RGD:9068941
G TMCO2 transmembrane and coiled-coil domains 2 JBrowse link 15 2,714,751 2,717,545 RGD:9068941
G TMEM125 transmembrane protein 125 JBrowse link 15 16,890,613 16,897,298 RGD:9068941
G TMEM53 transmembrane protein 53 JBrowse link 15 15,640,232 15,661,829 RGD:9068941
G TMEM54 transmembrane protein 54 JBrowse link 2 68,458,489 68,464,684 RGD:9068941
G TMEM69 transmembrane protein 69 JBrowse link 15 14,666,926 14,671,839 RGD:9068941
G TOE1 target of EGR1, exonuclease JBrowse link 15 15,014,790 15,018,285 RGD:9068941
G TRAPPC3 trafficking protein particle complex 3 JBrowse link 15 6,069,003 6,085,709 RGD:9068941
G TRIM62 tripartite motif containing 62 JBrowse link 2 68,247,138 68,265,530 RGD:9068941
G TRIT1 tRNA isopentenyltransferase 1 JBrowse link 15 3,013,928 3,071,029 RGD:9068941
G TSPAN1 tetraspanin 1 JBrowse link 15 14,189,271 14,201,679 RGD:9068941
G UROD uroporphyrinogen decarboxylase JBrowse link 15 15,313,808 15,317,130 RGD:9068941
G UTP11 UTP11 small subunit processome component JBrowse link 15 4,569,002 4,579,065 RGD:9068941
G YARS1 tyrosyl-tRNA synthetase 1 JBrowse link 2 68,535,402 68,566,197 RGD:7240710
G YBX1 Y-box binding protein 1 JBrowse link 15 646,301 666,347 RGD:9068941
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing JBrowse link 15 4,724,468 4,728,659 RGD:9068941
G ZC3H12A zinc finger CCCH-type containing 12A JBrowse link 15 4,972,369 4,984,218 RGD:9068941
G ZFP69 ZFP69 zinc finger protein JBrowse link 15 2,510,760 2,526,715 RGD:9068941
G ZFP69B ZFP69 zinc finger protein B JBrowse link 15 2,535,969 2,547,614 RGD:9068941
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 15 2,669,546 2,708,480 RGD:9068941
G ZMYM1 zinc finger MYM-type containing 1 JBrowse link 15 6,918,292 6,946,293 RGD:9068941
G ZMYM4 zinc finger MYM-type containing 4 JBrowse link 15 6,677,596 6,800,579 RGD:9068941
G ZMYM6 zinc finger MYM-type containing 6 JBrowse link 15 6,965,362 7,006,314 RGD:9068941
G ZMYND12 zinc finger MYND-type containing 12 JBrowse link 15 817,339 842,089 RGD:9068941
G ZNF362 zinc finger protein 362 JBrowse link 2 68,142,574 68,182,938 RGD:9068941
G ZNF691 zinc finger protein 691 JBrowse link 15 519,467 524,757 RGD:9068941
G ZSCAN20 zinc finger and SCAN domain containing 20 JBrowse link 2 67,939,840 67,959,524 RGD:9068941
G ZSWIM5 zinc finger SWIM-type containing 5 JBrowse link 15 15,109,965 15,312,935 RGD:9068941
Charcot-Marie-Tooth disease dominant intermediate D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 38 21,205,339 21,210,439 RGD:7240710
Charcot-Marie-Tooth disease dominant intermediate E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC490877 inverted formin, FH2 and WH2 domain containing JBrowse link 8 72,267,790 72,273,793 RGD:7240710
Charcot-Marie-Tooth disease dominant intermediate F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GNB4 G protein subunit beta 4 JBrowse link 34 12,818,063 12,849,822 RGD:7240710
Charcot-Marie-Tooth disease dominant intermediate G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEFL neurofilament light JBrowse link 25 32,463,361 32,468,965 RGD:7240710
Charcot-Marie-Tooth disease intermediate type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCN1 chloride voltage-gated channel 1 JBrowse link 16 6,342,772 6,373,580 RGD:9068941
G DNM2 dynamin 2 JBrowse link 20 50,398,866 50,487,303 RGD:9068941
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 29 22,805,468 22,835,909 RGD:9068941
G IGHMBP2 immunoglobulin mu DNA binding protein 2 JBrowse link 18 49,063,748 49,090,625 RGD:9068941
G KARS1 lysyl-tRNA synthetase 1 JBrowse link 5 75,172,976 75,188,197 RGD:9068941
G MPZ myelin protein zero JBrowse link 38 21,205,339 21,210,439 RGD:9068941
G SDHC succinate dehydrogenase complex subunit C JBrowse link 38 21,162,850 21,200,429 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 4 59,801,240 59,905,759 RGD:9068941
G YARS1 tyrosyl-tRNA synthetase 1 JBrowse link 2 68,535,402 68,566,197 RGD:9068941
Charcot-Marie-Tooth disease recessive intermediate A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 29 22,805,468 22,835,909 RGD:7240710
Charcot-Marie-Tooth disease recessive intermediate B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KARS1 lysyl-tRNA synthetase 1 JBrowse link 5 75,172,976 75,188,197 RGD:7240710
Charcot-Marie-Tooth disease recessive intermediate C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 5 60,321,453 60,347,393 RGD:7240710
Charcot-Marie-Tooth disease recessive intermediate D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC477508 cytochrome c oxidase subunit 6A1, mitochondrial JBrowse link 26 16,346,760 16,349,042 RGD:7240710
Charcot-Marie-Tooth disease type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS1 alanyl-tRNA synthetase 1 JBrowse link 5 76,288,780 76,343,262 RGD:9068941
G CDRT4 CMT1A duplicated region transcript 4 JBrowse link 5 38,983,194 39,015,364 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 8 69,997,021 70,064,886 RGD:9068941
G EGR2 early growth response 2 JBrowse link 4 14,705,384 14,810,130 RGD:9068941
G FIG4 FIG4 phosphoinositide 5-phosphatase JBrowse link 12 66,508,801 66,632,830 RGD:9068941
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 14 43,308,274 43,351,999 RGD:9068941
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 29 22,805,468 22,835,909 RGD:9068941
G IGHMBP2 immunoglobulin mu DNA binding protein 2 JBrowse link 18 49,063,748 49,090,625 RGD:9068941
G KIF1B kinesin family member 1B JBrowse link 5 63,367,294 63,516,388 RGD:9068941
G LITAF lipopolysaccharide induced TNF factor JBrowse link 6 31,229,153 31,259,670 RGD:9068941
G LOC489516 heparan sulfate glucosamine 3-O-sulfotransferase 3B1 JBrowse link 5 38,023,858 38,066,548 RGD:9068941
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 55,855,576 55,894,915 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 2 84,284,719 84,310,715 RGD:9068941
G MORC2 MORC family CW-type zinc finger 2 JBrowse link 26 23,951,704 23,993,620 RGD:9068941
G MPZ myelin protein zero JBrowse link 38 21,205,339 21,210,439 RGD:9068941
G NEFL neurofilament light JBrowse link 25 32,463,361 32,468,965 RGD:9068941
G PMP22 peripheral myelin protein 22 JBrowse link 5 38,806,731 38,839,002 RGD:9068941
G PRX periaxin JBrowse link 1 113,279,940 113,294,042 RGD:9068941
G SDHC succinate dehydrogenase complex subunit C JBrowse link 38 21,162,850 21,200,429 RGD:9068941
G SEPTIN9 septin 9 JBrowse link 9 3,495,764 3,571,755 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 4 59,801,240 59,905,759 RGD:9068941
G TEKT3 tektin 3 JBrowse link 5 38,872,664 38,913,114 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 26 17,293,334 17,330,156 RGD:9068941
Charcot-Marie-Tooth disease type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDRT1 CMT1A duplicated region transcript 1 JBrowse link 5 39,102,742 39,138,610 RGD:9068941
G CDRT4 CMT1A duplicated region transcript 4 JBrowse link 5 38,983,194 39,015,364 RGD:9068941
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 5 37,853,495 37,982,228 RGD:9068941
G LOC489516 heparan sulfate glucosamine 3-O-sulfotransferase 3B1 JBrowse link 5 38,023,858 38,066,548 RGD:9068941
G PMP22 peripheral myelin protein 22 JBrowse link 5 38,806,731 38,839,002 RGD:7240710
G TEKT3 tektin 3 JBrowse link 5 38,872,664 38,913,114 RGD:9068941
Charcot-Marie-Tooth disease type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 38 21,205,339 21,210,439 RGD:7240710
G SDHC succinate dehydrogenase complex subunit C JBrowse link 38 21,162,850 21,200,429 RGD:9068941
Charcot-Marie-Tooth disease type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LITAF lipopolysaccharide induced TNF factor JBrowse link 6 31,229,153 31,259,670 RGD:7240710
G NEFL neurofilament light JBrowse link 25 32,463,361 32,468,965 RGD:9068941
Charcot-Marie-Tooth disease type 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EGR2 early growth response 2 JBrowse link 4 14,705,384 14,810,130 RGD:7240710
Charcot-Marie-Tooth disease type 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PMP22 peripheral myelin protein 22 JBrowse link 5 38,806,731 38,839,002 RGD:7240710
Charcot-Marie-Tooth disease type 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEFL neurofilament light JBrowse link 25 32,463,361 32,468,965 RGD:7240710
Charcot-Marie-Tooth disease type 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC487015 myelin P2 protein JBrowse link 29 28,619,027 28,625,677 RGD:7240710
Charcot-Marie-Tooth disease type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS1 alanyl-tRNA synthetase 1 JBrowse link 5 76,288,780 76,343,262 RGD:9068941
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 JBrowse link 7 41,835,322 41,850,488 RGD:9068941
G BGLAP bone gamma-carboxyglutamate protein JBrowse link 7 41,630,092 41,630,976 RGD:9068941
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 18 53,958,380 53,971,120 RGD:9068941
G COG4 component of oligomeric golgi complex 4 JBrowse link 5 76,463,465 76,490,406 RGD:9068941
G COL12A1 collagen type XII alpha 1 chain JBrowse link 12 36,720,686 36,838,321 RGD:9068941
G DDX19A DEAD-box helicase 19A JBrowse link 5 76,343,328 76,365,443 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 8 69,997,021 70,064,886 RGD:9068941
G FCSK fucose kinase JBrowse link 5 76,442,597 76,463,165 RGD:9068941
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 14 43,308,274 43,351,999 RGD:9068941
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 6 7,487,164 7,488,576 RGD:9068941
G IL34 interleukin 34 JBrowse link 5 76,601,310 76,612,665 RGD:9068941
G KHDC4 KH domain containing 4, pre-mRNA splicing factor JBrowse link 7 41,875,837 41,893,819 RGD:9068941
G KIF1B kinesin family member 1B JBrowse link 5 63,367,294 63,516,388 RGD:9068941
G LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 JBrowse link 7 41,760,632 41,764,926 RGD:9068941
G LMNA lamin A/C JBrowse link 7 41,702,491 41,719,870 RGD:9068941
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 55,855,576 55,894,915 RGD:9068941
G MED25 mediator complex subunit 25 JBrowse link 1 106,723,737 106,740,077 RGD:9068941
G MEX3A mex-3 RNA binding family member A JBrowse link 7 41,742,777 41,749,730 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 2 84,284,719 84,310,715 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 2 84,320,529 84,343,562 RGD:9068941
G RAB25 RAB25, member RAS oncogene family JBrowse link 7 41,752,975 41,758,954 RGD:9068941
G RAB7A RAB7A, member RAS oncogene family JBrowse link 20 2,704,716 2,776,518 RGD:9068941
G RIT1 Ras like without CAAX 1 JBrowse link 7 41,894,726 41,903,450 RGD:9068941
G SEMA4A semaphorin 4A JBrowse link 7 41,670,814 41,695,349 RGD:9068941
G SF3B3 splicing factor 3b subunit 3 JBrowse link 5 76,490,622 76,543,877 RGD:9068941
G SLC25A44 solute carrier family 25 member 44 JBrowse link 7 41,630,868 41,665,894 RGD:9068941
G SSR2 signal sequence receptor subunit 2 JBrowse link 7 41,790,289 41,801,438 RGD:9068941
G ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 JBrowse link 5 76,377,782 76,427,998 RGD:9068941
G TFG trafficking from ER to golgi regulator JBrowse link 33 7,240,912 7,265,526 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 26 17,293,334 17,330,156 RGD:9068941
G UBQLN4 ubiquilin 4 JBrowse link 7 41,764,209 41,778,457 RGD:9068941
Charcot-Marie-Tooth disease type 2A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIF1B kinesin family member 1B JBrowse link 5 63,367,294 63,516,388 RGD:7240710
Charcot-Marie-Tooth Disease Type 2A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 2 84,284,719 84,310,715 RGD:9068941
Charcot-Marie-Tooth disease type 2A2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 2 84,284,719 84,310,715 RGD:7240710
Charcot-Marie-Tooth disease type 2A2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 2 84,284,719 84,310,715 RGD:7240710
Charcot-Marie-Tooth disease type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAD9 acyl-CoA dehydrogenase family member 9 JBrowse link 20 3,155,754 3,205,307 RGD:9068941
G CFAP92 cilia and flagella associated protein 92 (putative) JBrowse link 20 3,096,859 3,157,896 RGD:9068941
G RAB7A RAB7A, member RAS oncogene family JBrowse link 20 2,704,716 2,776,518 RGD:7240710
Charcot-Marie-Tooth disease type 2B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNA lamin A/C JBrowse link 7 41,702,491 41,719,870 RGD:7240710
Charcot-Marie-Tooth disease type 2B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MED25 mediator complex subunit 25 JBrowse link 1 106,723,737 106,740,077 RGD:9068941
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 1 106,695,649 106,707,229 RGD:7240710
Charcot-Marie-Tooth disease type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 14 43,308,274 43,351,999 RGD:7240710
Charcot-Marie-Tooth disease type 2DD term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 17 53,828,482 53,847,043 RGD:7240710
Charcot-Marie-Tooth disease type 2E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEFL neurofilament light JBrowse link 25 32,463,361 32,468,965 RGD:7240710
G PMP22 peripheral myelin protein 22 JBrowse link 5 38,806,731 38,839,002 RGD:9068941
Charcot-Marie-Tooth disease type 2EE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPV17 mitochondrial inner membrane protein MPV17 JBrowse link 17 21,280,523 21,290,967 RGD:7240710
Charcot-Marie-Tooth disease type 2I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 38 21,205,339 21,210,439 RGD:7240710
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 38 21,205,339 21,210,439 RGD:7240710
Charcot-Marie-Tooth disease type 2Y term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VCP valosin containing protein JBrowse link 11 51,636,986 51,651,749 RGD:7240710
Charcot-Marie-Tooth disease type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EGR2 early growth response 2 JBrowse link 4 14,705,384 14,810,130 RGD:7240710
G GJB1 gap junction protein beta 1 JBrowse link X 55,565,995 55,575,332 RGD:9068941
G MPZ myelin protein zero JBrowse link 38 21,205,339 21,210,439 RGD:7240710
G PMP22 peripheral myelin protein 22 JBrowse link 5 38,806,731 38,839,002 RGD:7240710
G PRX periaxin JBrowse link 1 113,279,940 113,294,042 RGD:7240710
Charcot-Marie-Tooth disease type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCN4 cellular communication network factor 4 JBrowse link 13 29,648,720 29,683,822 RGD:9068941
G DNM1L dynamin 1 like JBrowse link 27 16,161,855 16,211,983 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 8 69,997,021 70,064,886 RGD:9068941
G FGD4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 27 16,252,405 16,464,099 RGD:9068941
G FIG4 FIG4 phosphoinositide 5-phosphatase JBrowse link 12 66,508,801 66,632,830 RGD:9068941
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 29 22,805,468 22,835,909 RGD:9068941
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 6 7,487,164 7,488,576 RGD:9068941
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 13 28,765,472 29,062,371 RGD:9068941
G KIF1B kinesin family member 1B JBrowse link 5 63,367,294 63,516,388 RGD:9068941
G LRRC6 leucine rich repeat containing 6 JBrowse link 13 29,128,500 29,199,354 RGD:9068941
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 55,855,576 55,894,915 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 2 84,284,719 84,310,715 RGD:9068941
G MORC2 MORC family CW-type zinc finger 2 JBrowse link 26 23,951,704 23,993,620 RGD:9068941
G MTMR2 myotubularin related protein 2 JBrowse link 21 5,194,772 5,316,441 RGD:9068941
G NDRG1 N-myc downstream regulated 1 JBrowse link 13 29,689,294 29,745,964 RGD:9068941
G PHF20L1 PHD finger protein 20 like 1 JBrowse link 13 29,260,381 29,338,345 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 2 84,320,529 84,343,562 RGD:9068941
G PRX periaxin JBrowse link 1 113,279,940 113,294,042 RGD:9068941
G SBF1 SET binding factor 1 JBrowse link 10 16,823,456 16,845,800 RGD:9068941
G SBF2 SET binding factor 2 JBrowse link 21 33,005,921 33,461,258 RGD:9068941
G SEPTIN9 septin 9 JBrowse link 9 3,495,764 3,571,755 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 4 59,801,240 59,905,759 RGD:9068941
G SLA Src like adaptor JBrowse link 13 29,503,304 29,590,679 RGD:9068941
G TG thyroglobulin JBrowse link 13 29,350,726 29,597,908 RGD:9068941
G TMEM71 transmembrane protein 71 JBrowse link 13 29,217,384 29,249,145 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 26 17,293,334 17,330,156 RGD:9068941
Charcot-Marie-Tooth disease type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 29 22,805,468 22,835,909 RGD:7240710
G JPH1 junctophilin 1 JBrowse link 29 22,701,531 22,785,712 RGD:9068941
G LY96 lymphocyte antigen 96 JBrowse link 29 22,493,757 22,515,147 RGD:9068941
G TMEM70 transmembrane protein 70 JBrowse link 29 22,475,961 22,487,920 RGD:9068941
Charcot-Marie-Tooth Disease Type 4A, Axonal Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 29 22,805,468 22,835,909 RGD:7240710
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 55,855,576 55,894,915 RGD:9068941
Charcot-Marie-Tooth disease type 4B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTMR2 myotubularin related protein 2 JBrowse link 21 5,194,772 5,316,441 RGD:7240710
Charcot-Marie-Tooth disease type 4B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SBF2 SET binding factor 2 JBrowse link 21 33,005,921 33,461,258 RGD:7240710
Charcot-Marie-Tooth disease type 4B3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SBF1 SET binding factor 1 JBrowse link 10 16,823,456 16,845,800 RGD:7240710
Charcot-Marie-Tooth disease type 4C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 4 59,801,240 59,905,759 RGD:7240710
Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDRG1 N-myc downstream regulated 1 JBrowse link 13 29,689,294 29,745,964 RGD:7240710
RGD:12801476
Charcot-Marie-Tooth disease type 4E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EGR2 early growth response 2 JBrowse link 4 14,705,384 14,810,130 RGD:7240710
G MPZ myelin protein zero JBrowse link 38 21,205,339 21,210,439 RGD:9068941
G SDHC succinate dehydrogenase complex subunit C JBrowse link 38 21,162,850 21,200,429 RGD:9068941
Charcot-Marie-Tooth disease type 4F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRX periaxin JBrowse link 1 113,279,940 113,294,042 RGD:7240710
Charcot-Marie-Tooth disease type 4G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HK1 hexokinase 1 JBrowse link 4 20,396,761 20,516,889 RGD:7240710
Charcot-Marie-Tooth disease type 4H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGD4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 27 16,252,405 16,464,099 RGD:7240710
Charcot-Marie-Tooth disease type 4J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FIG4 FIG4 phosphoinositide 5-phosphatase JBrowse link 12 66,508,801 66,632,830 RGD:7240710
Charcot-Marie-Tooth disease type 4K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SURF1 SURF1 cytochrome c oxidase assembly factor JBrowse link 9 49,786,562 49,790,004 RGD:7240710
Charcot-Marie-Tooth disease type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 8 69,997,021 70,064,886 RGD:9068941
Charcot-Marie-Tooth disease type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 2 84,284,719 84,310,715 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 2 84,320,529 84,343,562 RGD:9068941
Charcot-Marie-Tooth Disease Type 6A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 2 84,284,719 84,310,715 RGD:7240710
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 2 84,320,529 84,343,562 RGD:9068941
Charcot-Marie-Tooth Disease Type 6B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC25A46 solute carrier family 25 member 46 JBrowse link 3 1,700,310 1,715,841 RGD:7240710
Charcot-Marie-Tooth Disease Type 6C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDXK pyridoxal kinase JBrowse link 31 37,686,002 37,710,059 RGD:7240710
Charcot-Marie-Tooth disease type X term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIFM1 apoptosis inducing factor mitochondria associated 1 JBrowse link X 101,275,027 101,307,551 RGD:9068941
G GJB1 gap junction protein beta 1 JBrowse link X 55,565,995 55,575,332 RGD:9068941
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 81,150,537 81,171,521 RGD:9068941
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 101,311,752 101,322,825 RGD:9068941
Charcot-Marie-Tooth disease X-linked dominant 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB1 gap junction protein beta 1 JBrowse link X 55,565,995 55,575,332 RGD:7240710
Charcot-Marie-Tooth disease X-linked dominant 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDK3 pyruvate dehydrogenase kinase 3 JBrowse link X 19,994,383 20,058,979 RGD:7240710
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIFM1 apoptosis inducing factor mitochondria associated 1 JBrowse link X 101,275,027 101,307,551 RGD:7240710
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 101,311,752 101,322,825 RGD:9068941
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 81,150,537 81,171,521 RGD:7240710
Charcot-Marie-Tooth disease, axonal type 2W term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HARS1 histidyl-tRNA synthetase 1 JBrowse link 2 35,828,243 35,843,615 RGD:7240710
Charcot-Marie-Tooth Disease, Dominant Intermediate 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNM2 dynamin 2 JBrowse link 20 50,398,866 50,487,303 RGD:9068941
Charcot-Marie-Tooth Disease, Dominant Intermediate 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 38 21,205,339 21,210,439 RGD:9068941
Charcot-Marie-Tooth Disease, Type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 2 84,284,719 84,310,715 RGD:9068941
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SACS sacsin molecular chaperone JBrowse link 25 15,207,959 15,297,483 RGD:7240710
G SGCG sarcoglycan gamma JBrowse link 25 15,300,303 15,429,555 RGD:9068941
childhood spinal muscular atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 8 69,997,021 70,064,886 RGD:9068941
G SMN survival motor neuron JBrowse link 2 54,596,000 54,636,837 RGD:9068941
choreaacanthocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VPS13A vacuolar protein sorting 13 homolog A JBrowse link 1 81,191,125 81,426,337 RGD:7240710
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 14,512,226 14,725,348 RGD:9068941
G HIVEP2 HIVEP zinc finger 2 JBrowse link 1 34,367,455 34,560,277 RGD:9068941
G RS1 retinoschisin 1 JBrowse link X 14,727,016 14,749,674 RGD:9068941
G SLC9A6 solute carrier family 9 member A6 JBrowse link X 106,408,789 106,465,504 RGD:7240710
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RNF135 ring finger protein 135 JBrowse link 9 40,794,772 40,809,022 RGD:9068941
Chromosome Xp11.3 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RP2 RP2 activator of ARL3 GTPase JBrowse link X 40,472,525 40,525,726 RGD:7240710
CK Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NSDHL NAD(P) dependent steroid dehydrogenase-like JBrowse link X 120,720,118 120,754,573 RGD:7240710
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCX doublecortin JBrowse link X 84,408,762 84,541,157 RGD:7240710
G MNT MAX network transcriptional repressor JBrowse link 9 46,466,879 46,482,467 RGD:9068941
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 JBrowse link 9 46,648,057 46,731,259 RGD:9068941
Cockayne syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 110,130,353 110,146,660 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 110,173,781 110,191,612 RGD:9068941
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 19 23,310,911 23,344,083 RGD:9068941
G ERCC5 ERCC excision repair 5, endonuclease JBrowse link 22 52,339,011 52,372,618 RGD:9068941
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 28 1,358,383 1,432,276 RGD:9068941
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 47,502,777 47,559,012 RGD:9068941
G GHR growth hormone receptor JBrowse link 4 67,021,821 67,245,499 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 15 41,203,320 41,275,964 RGD:9068941
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 47,559,002 47,706,704 RGD:9068941
G XPA XPA, DNA damage recognition and repair factor JBrowse link 11 54,976,978 54,996,140 RGD:9068941
Cockayne Syndrome A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 47,502,777 47,559,012 RGD:7240710
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 47,559,002 47,706,704 RGD:9068941
Cockayne Syndrome B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 28 1,358,383 1,432,276 RGD:7240710
Coffin-Lowry syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPS6KA3 ribosomal protein S6 kinase A3 JBrowse link X 15,991,623 16,079,689 RGD:7240710
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 JBrowse link 22 46,323,263 46,402,240 RGD:7240710
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 JBrowse link 5 44,882,111 45,021,152 RGD:9068941
combined saposin deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDH23 cadherin related 23 JBrowse link 4 22,206,972 22,570,875 RGD:9068941
G PSAP prosaposin JBrowse link 4 22,571,095 22,603,880 RGD:7240710
congenital vertical talus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXD10 homeobox D10 JBrowse link 36 19,924,352 19,927,706 RGD:7240710
Copper-Overload Cirrhosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTA2 actin alpha 2, smooth muscle JBrowse link 26 38,700,434 38,714,915 RGD:9068941
G B9D2 B9 domain containing 2 JBrowse link 1 112,621,832 112,627,726 RGD:9068941
G CASP3 caspase 3 JBrowse link 16 45,920,074 45,940,507 RGD:9068941
G COMMD1 copper metabolism domain containing 1 JBrowse link 10 61,886,281 62,059,610 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 18 21,329,688 21,410,257 RGD:9068941
G KRT19 keratin 19 JBrowse link 9 21,240,778 21,245,039 RGD:9068941
G KRT7 keratin 7 JBrowse link 27 2,812,709 2,827,451 RGD:9068941
G MET MET proto-oncogene, receptor tyrosine kinase JBrowse link 14 55,599,047 55,711,626 RGD:9068941
G MKI67 marker of proliferation Ki-67 JBrowse link 28 36,920,679 36,939,336 RGD:9068941
G SMAD2 SMAD family member 2 JBrowse link 7 43,696,883 43,778,063 RGD:9068941
G STAT3 signal transducer and activator of transcription 3 JBrowse link 9 20,539,660 20,614,631 RGD:9068941
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IGBP1 immunoglobulin binding protein 1 JBrowse link X 54,558,515 54,612,029 RGD:7240710
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FRMD4A FERM domain containing 4A JBrowse link 2 22,128,030 22,857,707 RGD:7240710
creatine transporter deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCD1 ATP binding cassette subfamily D member 1 JBrowse link X 121,545,690 121,564,117 RGD:9068941
G BCAP31 B cell receptor associated protein 31 JBrowse link X 121,515,417 121,550,373 RGD:9068941
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma JBrowse link X 121,599,368 121,608,707 RGD:9068941
G L1CAM L1 cell adhesion molecule JBrowse link X 121,708,695 121,722,819 RGD:9068941
G PDZD4 PDZ domain containing 4 JBrowse link X 121,616,122 121,647,326 RGD:9068941
G PLXNB3 plexin B3 JBrowse link X 121,577,564 121,593,294 RGD:9068941
G SLC6A8 solute carrier family 6 member 8 JBrowse link X 121,505,117 121,511,674 RGD:7240710
G SRPK3 SRSF protein kinase 3 JBrowse link X 121,594,992 121,599,333 RGD:9068941
G SSR4 signal sequence receptor subunit 4 JBrowse link X 121,608,802 121,613,796 RGD:9068941
Danon disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKAP14 A-kinase anchoring protein 14 JBrowse link X 91,900,154 91,927,629 RGD:9068941
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 JBrowse link X 92,347,443 92,368,206 RGD:9068941
G LAMP2 lysosomal associated membrane protein 2 JBrowse link X 92,405,946 92,444,527 RGD:7240710
G LOC102154408 rhox homeobox family member 2 JBrowse link X 92,119,491 92,130,116 RGD:9068941
G LOC102155093 rhox homeobox family member 2-like JBrowse link X 92,057,600 92,068,223 RGD:9068941
G LOC481034 homeobox protein Wariai JBrowse link X 92,090,233 92,130,977 RGD:9068941
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 JBrowse link X 91,886,062 91,889,841 RGD:9068941
G NKAP NFKB activating protein JBrowse link X 91,922,326 91,956,566 RGD:9068941
G RNF113A ring finger protein 113A JBrowse link X 91,884,757 91,885,998 RGD:9068941
G TMEM255A transmembrane protein 255A JBrowse link X 92,251,820 92,301,660 RGD:9068941
G UPF3B UPF3B regulator of nonsense mediated mRNA decay JBrowse link X 91,835,845 91,851,755 RGD:9068941
G ZBTB33 zinc finger and BTB domain containing 33 JBrowse link X 92,243,159 92,250,940 RGD:9068941
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATN1 atrophin 1 JBrowse link 27 38,104,683 38,118,957 RGD:7240710
distal hereditary motor neuronopathy type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HSPB8 heat shock protein family B (small) member 8 JBrowse link 26 15,337,718 15,349,993 RGD:7240710
distal hereditary motor neuronopathy type 7A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC138 coiled-coil domain containing 138 JBrowse link 10 34,976,341 35,086,080 RGD:9068941
G EDAR ectodysplasin A receptor JBrowse link 10 34,873,311 34,943,140 RGD:9068941
G GCC2 GRIP and coiled-coil domain containing 2 JBrowse link 10 35,379,055 35,431,500 RGD:9068941
G LIMS1 LIM zinc finger domain containing 1 JBrowse link 10 35,192,582 35,339,100 RGD:9068941
G LOC474539 E3 SUMO-protein ligase RanBP2 JBrowse link 10 35,088,175 35,181,248 RGD:9068941
G SLC5A7 solute carrier family 5 member 7 JBrowse link 10 35,879,880 35,908,203 RGD:7240710
G SULT1C2 sulfotransferase family 1C member 2 JBrowse link 10 35,561,023 35,589,999 RGD:9068941
G SULT1C3 sulfotransferase family 1C member 3 JBrowse link 10 35,610,282 35,644,315 RGD:9068941
G SULT1C4 sulfotransferase family 1C member 4 JBrowse link 10 35,494,614 35,504,162 RGD:9068941
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCTN1 dynactin subunit 1 JBrowse link 17 48,728,096 48,759,187 RGD:7240710
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 8 69,997,021 70,064,886 RGD:9068941
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 14 43,308,274 43,351,999 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 2 84,284,719 84,310,715 RGD:9068941
G MPZ myelin protein zero JBrowse link 38 21,205,339 21,210,439 RGD:9068941
G NEFL neurofilament light JBrowse link 25 32,463,361 32,468,965 RGD:9068941
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 5 60,321,453 60,347,393 RGD:9068941
G SCN11A sodium voltage-gated channel alpha subunit 11 JBrowse link 23 8,559,804 8,651,448 RGD:9068941
G SETX senataxin JBrowse link 9 51,900,004 51,980,694 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 4 59,801,240 59,905,759 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 26 17,293,334 17,330,156 RGD:9068941
dominant optic atrophy plus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 23 52,068,123 52,154,410 RGD:7240710
early infantile epileptic encephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BEND2 BEN domain containing 2 JBrowse link X 14,263,152 14,324,882 RGD:9068941
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 14,512,226 14,725,348 RGD:7240710
RGD:9068941
G NHS NHS actin remodeling regulator JBrowse link X 13,487,919 13,834,869 RGD:9068941
G RAI2 retinoic acid induced 2 JBrowse link X 13,871,795 14,021,908 RGD:9068941
G RS1 retinoschisin 1 JBrowse link X 14,727,016 14,749,674 RGD:9068941
G SCML1 Scm polycomb group protein like 1 JBrowse link X 13,836,054 13,850,151 RGD:9068941
G SCML2 Scm polycomb group protein like 2 JBrowse link X 14,334,769 14,436,614 RGD:9068941
early infantile epileptic encephalopathy 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC25A12 solute carrier family 25 member 12 JBrowse link 36 16,185,011 16,391,080 RGD:7240710
episodic ataxia type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 JBrowse link 19 52,987,170 53,116,410 RGD:7240710
episodic ataxia type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC1A3 solute carrier family 1 member 3 JBrowse link 4 71,936,128 72,014,119 RGD:7240710
essential tremor 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HS1BP3 HCLS1 binding protein 3 JBrowse link 17 15,577,552 15,610,141 RGD:7240710
Familial Amyloid Polyneuropathies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APOA1 apolipoprotein A1 JBrowse link 5 16,740,071 16,742,081 RGD:9068941
G F10 coagulation factor X JBrowse link 22 60,585,563 60,597,027 RGD:9068941
G F2 coagulation factor II, thrombin JBrowse link 18 42,782,744 42,799,531 RGD:9068941
G MYBPC3 myosin binding protein C3 JBrowse link 18 42,271,159 42,288,782 RGD:9068941
G PKP2 plakophilin 2 JBrowse link 27 16,023,186 16,109,978 RGD:9068941
G TNNI3 troponin I3, cardiac type JBrowse link 1 102,475,146 102,478,319 RGD:9068941
G TTR transthyretin JBrowse link 7 57,940,354 57,947,084 RGD:9068941
familial encephalopathy with neuroserpin inclusion bodies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDCD10 programmed cell death 10 JBrowse link 34 32,512,109 32,553,524 RGD:9068941
G SERPINB7 serpin family B member 7 JBrowse link 1 13,336,067 13,392,674 RGD:9068941
G SERPINI1 serpin family I member 1 JBrowse link 34 32,553,876 32,624,708 RGD:7240710
familial hemiplegic migraine 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 20 48,747,087 49,036,627 RGD:7240710
FG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CASK calcium/calmodulin dependent serine protein kinase JBrowse link X 35,939,117 36,296,438 RGD:9068941
G