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ONTOLOGY REPORT - ANNOTATIONS


Term:Nervous System Heredodegenerative Disorders
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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.


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Nervous System Heredodegenerative Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cygb cytoglobin JBrowse link 10 105,618,325 105,628,091 RGD:11554173
G Ftl1 ferritin light chain 1 JBrowse link 1 101,448,190 101,450,034 RGD:11554173
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8657128
G Ngb neuroglobin JBrowse link 6 111,126,259 111,131,699 RGD:11554173
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:7240710
RGD:8554872
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 2 120,503,093 120,531,782 RGD:7240710
RGD:8554872
Aarskog syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11554031
RGD:11554030
RGD:11554029
RGD:11554024
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:8554872
adrenoleukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd1 ATP binding cassette subfamily D member 1 JBrowse link X 157,073,860 157,095,652 RGD:1598655
RGD:8554872
RGD:11554173
RGD:7240710
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 JBrowse link 8 59,184,111 59,240,133 RGD:11065111
G Arhgap4 Rho GTPase activating protein 4 JBrowse link X 156,873,094 156,888,762 RGD:8554872
G Atp6ap1 ATPase H+ transporting accessory protein 1 JBrowse link X 156,407,973 156,415,053 RGD:8554872
G Avpr2 arginine vasopressin receptor 2 JBrowse link X 156,889,006 156,892,707 RGD:8554872
G Bcap31 B-cell receptor-associated protein 31 JBrowse link X 157,094,365 157,126,397 RGD:8554872
G Ctag2 cancer/testis antigen 2 JBrowse link X 148,421,627 148,422,921 RGD:8554872
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link X 155,844,914 155,862,363 RGD:8554872
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Emd emerin JBrowse link X 156,452,847 156,455,858 RGD:8554872
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:8554872
G Fam3a family with sequence similarity 3, member A JBrowse link X 156,319,687 156,328,974 RGD:8554872
G Fam50a family with sequence similarity 50, member A JBrowse link X 156,392,646 156,399,763 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Gdi1 GDP dissociation inhibitor 1 JBrowse link X 156,400,734 156,407,396 RGD:8554872
G Hcfc1 host cell factor C1 JBrowse link X 156,812,012 156,837,227 RGD:8554872
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:11554173
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma JBrowse link X 156,999,803 157,008,735 RGD:8554872
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:8554872
G Irak1 interleukin-1 receptor-associated kinase 1 JBrowse link X 156,716,469 156,726,367 RGD:8554872
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:8554872
G Lage3 L antigen family, member 3 JBrowse link X 156,355,376 156,356,799 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Mmp10 matrix metallopeptidase 10 JBrowse link 8 5,734,348 5,742,243 RGD:13204814
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:13204814
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204814
G Mpp1 membrane palmitoylated protein 1 JBrowse link 1 148,450,213 148,458,945 RGD:8554872
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:8554872
G Opn1mw opsin 1, medium wave sensitive JBrowse link X 156,569,683 156,589,907 RGD:8554872
G Pdzd4 PDZ domain containing 4 JBrowse link X 156,963,343 156,993,591 RGD:8554872
G Pex13 peroxisomal biogenesis factor 13 JBrowse link 14 108,394,299 108,411,994 RGD:11554173
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:11554173
G Plxna3 plexin A3 JBrowse link X 156,363,400 156,379,433 RGD:8554872
G Plxnb3 plexin B3 JBrowse link X 157,015,297 157,030,147 RGD:8554872
G Renbp renin binding protein JBrowse link X 156,854,490 156,863,548 RGD:8554872
G Rpl10 ribosomal protein L10 JBrowse link X 156,438,251 156,440,461 RGD:8554872
G Slc10a3 solute carrier family 10, member 3 JBrowse link X 156,335,385 156,340,256 RGD:8554872
G Slc6a8 solute carrier family 6 member 8 JBrowse link X 157,129,987 157,139,321 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Srpk3 SRSF protein kinase 3 JBrowse link X 157,008,773 157,014,342 RGD:8554872
G Ssr4 signal sequence receptor subunit 4 JBrowse link X 156,995,763 156,999,702 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
G Tex28 testis expressed 28 JBrowse link X 156,540,442 156,569,272 RGD:8554872
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204814
G Tktl1 transketolase-like 1 JBrowse link X 156,507,797 156,540,733 RGD:8554872
G Ubl4a ubiquitin-like 4A JBrowse link X 156,340,919 156,343,771 RGD:8554872
Adult Refsum Disease, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex7 peroxisomal biogenesis factor 7 JBrowse link 1 15,311,768 15,374,702 RGD:8554872
G Phyh phytanoyl-CoA 2-hydroxylase JBrowse link 17 77,287,580 77,304,482 RGD:8554872
adult spinal muscular atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smn1 survival of motor neuron 1, telomeric JBrowse link 2 30,360,101 30,371,147 RGD:7240710
RGD:8554872
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmnb1 lamin B1 JBrowse link 18 51,785,111 51,822,264 RGD:10044243
RGD:8554872
RGD:7240710
Alexander Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:8554872
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:7240710
RGD:8554872
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 74,578,600 74,706,068 RGD:7240710
RGD:8554872
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 8 103,673,578 103,770,886 RGD:8554872
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:7240710
RGD:8554872
RGD:9586030
RGD:9586029
RGD:9586027
Alstrom syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alms1 ALMS1, centrosome and basal body associated protein JBrowse link 4 117,371,544 117,472,310 RGD:1601169
RGD:8554872
RGD:11554173
RGD:8696018
RGD:8696016
RGD:8696015
RGD:8696013
RGD:7240710
Arts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:12910562
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
ataxia telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:7240710
RGD:8554872
RGD:12879399
RGD:11554173
RGD:10053611
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo RGD:12879399
G Bak1 BCL2-antagonist/killer 1 JBrowse link 20 5,609,620 5,618,899 RGD:14394817
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:14394817
G Bik BCL2-interacting killer JBrowse link 7 124,390,924 124,410,449 RGD:14394817
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:9681455
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8693328
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8693328
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11529801
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
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 8 13,304,355 13,350,329 RGD:8554872
RGD:11554173
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:11554173
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:7240710
RGD:8554872
RGD:10054301
RGD:10054300
RGD:1599207
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:8554872
ataxia with oculomotor apraxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:8554872
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:7240710
RGD:8554872
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 10 55,013,686 55,078,986 RGD:7240710
RGD:8554872
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:8554872
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:7240710
RGD:8554872
Ataxia-Telangiectasia Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
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 8 13,304,355 13,350,329 RGD:7240710
RGD:8554872
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:7240710
RGD:8554872
Atkin Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 JBrowse link X 22,212,137 22,293,810 RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdxr ferredoxin reductase JBrowse link 10 103,817,724 103,826,413 RGD:8554872
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 8 21,922,515 21,968,495 RGD:7240710
RGD:8554872
autosomal dominant Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:7240710
RGD:8554872
autosomal recessive cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano10 anoctamin 10 JBrowse link 8 130,812,941 130,931,021 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:8554872
G Tdp1 tyrosyl-DNA phosphodiesterase 1 JBrowse link 6 123,895,860 123,963,688 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
autosomal recessive spinocerebellar ataxia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano10 anoctamin 10 JBrowse link 8 130,812,941 130,931,021 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syt14 synaptotagmin 14 JBrowse link 13 111,630,005 111,766,334 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rubcn rubicon autophagy regulator JBrowse link 11 71,150,506 71,199,254 RGD:8554872
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 10 15,195,954 15,198,870 RGD:8554872
G Stub1 STIP1 homology and U-box containing protein 1 JBrowse link 10 15,197,754 15,200,035 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cwf19l1 CWF19 like cell cycle control factor 1 JBrowse link 1 263,887,014 263,910,251 RGD:7240710
RGD:8554872
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 4 94,068,112 95,476,864 RGD:7240710
RGD:8554872
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 5 151,573,122 151,626,360 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmpca peptidase, mitochondrial processing alpha subunit JBrowse link 3 3,834,262 3,842,061 RGD:8554872
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 14,136 15,278 RGD:8554872
G Snx14 sorting nexin 14 JBrowse link 8 96,018,943 96,088,405 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scyl1 SCY1 like pseudokinase 1 JBrowse link 1 221,115,992 221,129,668 RGD:7240710
RGD:8554872
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 9 43,607,066 43,779,466 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atg5 autophagy related 5 JBrowse link 20 49,301,783 49,393,147 RGD:8554872
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 81,412,635 81,441,680 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpp1 tripeptidyl peptidase 1 JBrowse link 1 170,588,036 170,594,159 RGD:7240710
RGD:8554872
Autosomal Recessive Spinocerebellar Ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8554872
G Fbxo5 F-box protein 5 JBrowse link 1 42,461,277 42,467,646 RGD:8554872
G Mtrf1l mitochondrial translational release factor 1-like JBrowse link 1 42,475,791 42,485,999 RGD:8554872
G Myct1 myc target 1 JBrowse link 1 42,121,572 42,132,131 RGD:8554872
G Rgs17 regulator of G-protein signaling 17 JBrowse link 1 42,491,566 42,587,735 RGD:8554872
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:7240710
RGD:8554872
RGD:13209001
G Vip vasoactive intestinal peptide JBrowse link 1 42,169,307 42,177,582 RGD:8554872
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tdp1 tyrosyl-DNA phosphodiesterase 1 JBrowse link 6 123,895,860 123,963,688 RGD:8554872
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 JBrowse link 5 127,925,726 127,936,516 RGD:7240710
RGD:8554872
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link 5 152,195,359 152,198,813 RGD:13592920
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:8554872
RGD:11554173
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phf6 PHD finger protein 6 JBrowse link X 158,698,353 158,739,855 RGD:7240710
RGD:8554872
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 2 4,942,795 5,547,744 RGD:8554872
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 JBrowse link 2 5,569,954 5,579,894 RGD:7240710
RGD:8554872
G Pou5f2 POU domain class 5, transcription factor 2 JBrowse link 2 5,437,067 5,438,301 RGD:8554872
G RGD1560883 similar to KIAA0825 protein JBrowse link 2 4,195,871 4,755,065 RGD:8554872
Boucher-Neuhauser syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:7240710
RGD:8554872
Brody myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 JBrowse link 1 197,855,912 197,875,038 RGD:734618
RGD:8554872
RGD:7240710
G Atxn2l ataxin 2-like JBrowse link 1 197,908,087 197,920,400 RGD:8554872
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 JBrowse link 1 197,839,583 197,855,953 RGD:8554872
G Sh2b1 SH2B adaptor protein 1 JBrowse link 1 197,878,839 197,888,223 RGD:8554872
G Tufm Tu translation elongation factor, mitochondrial JBrowse link 1 197,903,582 197,907,189 RGD:8554872
Canavan disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aspa aspartoacylase JBrowse link 10 59,839,693 59,888,244 RGD:1599291
RGD:8554872
RGD:11554173
RGD:7240710
RGD:1599298
G Cspg4 chondroitin sulfate proteoglycan 4 JBrowse link 8 61,532,465 61,567,510 RGD:5686858
G Ctns cystinosin, lysosomal cystine transporter JBrowse link 10 59,749,250 59,772,475 RGD:8554872
G Emc6 ER membrane protein complex subunit 6 JBrowse link 10 59,741,772 59,743,338 RGD:8554872
G Glud1 glutamate dehydrogenase 1 JBrowse link 16 10,661,486 10,695,557 RGD:6484588
G Haspin histone H3 associated protein kinase JBrowse link 10 59,695,403 59,698,398 RGD:8554872
G Itgae integrin subunit alpha E JBrowse link 10 59,652,324 59,711,885 RGD:8554872
G P2rx5 purinergic receptor P2X 5 JBrowse link 10 59,725,438 59,737,126 RGD:8554872
G Shpk sedoheptulokinase JBrowse link 10 59,765,328 59,789,676 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:13592920
G Spata22 spermatogenesis associated 22 JBrowse link 10 59,893,064 59,910,769 RGD:8554872
G Tax1bp3 Tax1 binding protein 3 JBrowse link 10 59,743,356 59,748,063 RGD:8554872
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 JBrowse link 10 59,799,123 59,824,208 RGD:8554872
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 JBrowse link 10 59,829,755 59,863,780 RGD:8554872
CAPOS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:11576280
RGD:8554872
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 13 103,229,868 103,265,019 RGD:7240710
RGD:8554872
Cayman type cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atcay ATCAY kinesin light chain interacting caytaxin JBrowse link 7 11,356,017 11,379,782 RGD:7240710
RGD:8554872
cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atcay ATCAY kinesin light chain interacting caytaxin JBrowse link 7 11,356,017 11,379,782 RGD:1599348
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
RGD:13592920
G Ciz1 CDKN1A interacting zinc finger protein 1 JBrowse link 3 11,392,046 11,409,218 RGD:8554872
G Clcn2 chloride voltage-gated channel 2 JBrowse link 11 82,862,664 82,876,165 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:8554872
G Dnm1 dynamin 1 JBrowse link 3 11,338,081 11,382,043 RGD:8554872
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8554872
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:8554872
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G L2hgdh L-2-hydroxyglutarate dehydrogenase JBrowse link 6 92,016,560 92,057,643 RGD:13506824
G Mlc1 modulator of VRAC current 1 JBrowse link 7 129,949,984 129,970,314 RGD:8554872
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
G Nop56 NOP56 ribonucleoprotein JBrowse link 3 122,803,726 122,808,564 RGD:8554872
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:8554872
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694192
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
G Ptrh2 peptidyl-tRNA hydrolase 2 JBrowse link 10 74,002,151 74,012,182 RGD:8554872
G Rfc1 replication factor C subunit 1 JBrowse link 14 44,627,528 44,702,205 RGD:11554173
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:11073359
G Rpl27a ribosomal protein L27a JBrowse link 1 174,132,798 174,135,816 RGD:11554173
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:11554173
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 14 60,657,730 60,687,950 RGD:8554872
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:8554872
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:8554872
G Snx14 sorting nexin 14 JBrowse link 8 96,018,943 96,088,405 RGD:11554173
G Spart spartin JBrowse link 2 144,522,382 144,548,968 RGD:8554872
G Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:8554872
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:8554872
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:8554872
RGD:13209009
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link 20 5,535,434 5,564,657 RGD:8554872
Cerebellar Ataxia and Hypogonadotropic Hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf216 ring finger protein 216 JBrowse link 12 13,508,429 13,631,689 RGD:7240710
RGD:8554872
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 15 39,955,689 40,488,737 RGD:11554173
G Ca8 carbonic anhydrase 8 JBrowse link 5 21,249,018 21,345,810 RGD:13592920
G Vldlr very low density lipoprotein receptor JBrowse link 1 245,236,819 245,273,688 RGD:8554872
RGD:11554173
G Wdr81 WD repeat domain 81 JBrowse link 10 62,273,817 62,287,213 RGD:13592920
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 1 245,236,819 245,273,688 RGD:8554872
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 10 62,273,817 62,287,213 RGD:7240710
RGD:8554872
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 5 21,249,018 21,345,810 RGD:7240710
RGD:8554872
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 15 39,955,689 40,488,737 RGD:7240710
RGD:8554872
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 2 140,310,374 140,399,312 RGD:8554872
G Rfc1 replication factor C subunit 1 JBrowse link 14 44,627,528 44,702,205 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 8 116,154,661 116,285,643 RGD:7240710
RGD:8554872
G Cyb561d2 cytochrome b561 family, member D2 JBrowse link 8 116,295,328 116,297,879 RGD:8554872
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 15 344,204 1,048,849 RGD:8554872
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 5 157,820,908 157,846,226 RGD:8554872
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 7 24,745,051 24,851,227 RGD:8554872
Cerebellofaciodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit JBrowse link 6 137,762,230 137,808,573 RGD:8554872
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 16 8,734,028 8,804,610 RGD:8554872
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 80,293,574 80,307,334 RGD:8554872
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:7240710
RGD:8554872
RGD:10401101
RGD:10401092
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 80,293,574 80,307,334 RGD:1601070
RGD:8554872
RGD:7240710
Cerebrooculofacioskeletal Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:8554872
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 80,256,973 80,268,198 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:8554872
G Arf1 ADP-ribosylation factor 1 JBrowse link 10 45,562,700 45,579,214 RGD:8554872
G Arhgef10 Rho guanine nucleotide exchange factor 10 JBrowse link 16 79,725,629 79,817,065 RGD:8554872
G Atl1 atlastin GTPase 1 JBrowse link 6 92,229,764 92,370,428 RGD:8554872
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:8554872
G Bag3 Bcl2-associated athanogene 3 JBrowse link 1 199,941,258 199,965,191 RGD:8554872
G Bicd2 BICD cargo adaptor 2 JBrowse link 17 15,673,649 15,718,035 RGD:8554872
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:8554872
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:8554872
G Ctdp1 CTD phosphatase subunit 1 JBrowse link 18 76,922,913 76,985,095 RGD:8554872
G Dctn1 dynactin subunit 1 JBrowse link 4 114,876,770 114,896,567 RGD:8554872
G Dctn2 dynactin subunit 2 JBrowse link 7 70,555,953 70,571,433 RGD:8554872
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 9 82,436,453 82,444,669 RGD:8554872
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Egr2 early growth response 2 JBrowse link 20 22,452,170 22,461,018 RGD:8554872
G Elp1 elongator complex protein 1 JBrowse link 5 73,503,406 73,552,798 RGD:8554872
G Fgd4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 11 88,699,222 88,796,677 RGD:8554872
G Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 20 45,922,806 46,044,754 RGD:11554173
RGD:8554872
G Gan gigaxonin JBrowse link 19 49,692,790 49,746,178 RGD:8554872
G Gars glycyl-tRNA synthetase JBrowse link 4 85,235,122 85,276,085 RGD:8554872
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:1358634
RGD:8554872
RGD:12738398
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
G Gstt2 glutathione S-transferase, theta 2 JBrowse link 20 13,760,810 13,764,481 RGD:9686084
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta JBrowse link 6 27,555,408 27,589,539 RGD:8554872
G Hint1 histidine triad nucleotide binding protein 1 JBrowse link 10 40,208,236 40,211,981 RGD:8554872
G Hoxd10 homeo box D10 JBrowse link 3 61,614,133 61,617,342 RGD:11554173
G Hspb1 heat shock protein family B (small) member 1 JBrowse link 12 23,839,390 23,841,051 RGD:8554872
G Hspb8 heat shock protein family B (small) member 8 JBrowse link 12 45,905,371 45,920,014 RGD:8554872
G Ifrd1 interferon-related developmental regulator 1 JBrowse link 6 60,132,025 60,151,354 RGD:8554872
G Ighmbp2 immunoglobulin mu DNA binding protein 2 JBrowse link 1 218,509,274 218,531,922 RGD:8554872
G Inf2 inverted formin, FH2 and WH2 domain containing JBrowse link 6 137,162,593 137,180,198 RGD:8554872
G Kars lysyl-tRNA synthetase JBrowse link 19 44,212,205 44,231,209 RGD:8554872
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:8554872
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:8554872
G Litaf lipopolysaccharide-induced TNF factor JBrowse link 10 4,753,546 4,763,272 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:8554872
RGD:11554173
G Mars1 methionyl-tRNA synthetase 1 JBrowse link 7 70,585,011 70,602,425 RGD:8554872
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Morc2 MORC family CW-type zinc finger 2 JBrowse link 14 83,889,138 83,930,263 RGD:11554173
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:1358513
RGD:8554872
RGD:7240710
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mtmr2 myotubularin related protein 2 JBrowse link 8 12,283,471 12,334,014 RGD:8554872
G Myh14 myosin heavy chain 14 JBrowse link 1 100,608,975 100,671,086 RGD:8554872
G Ndrg1 N-myc downstream regulated 1 JBrowse link 7 107,734,326 107,775,701 RGD:8554872
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:1358514
RGD:8554872
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:8554872
G Nrg1 neuregulin 1 JBrowse link 16 62,969,573 64,065,063 RGD:10449027
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link 2 187,143,568 187,160,373 RGD:8554872
G Ntrk2 neurotrophic receptor tyrosine kinase 2 JBrowse link 17 5,934,651 6,245,778 RGD:5684901
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:1358786
RGD:8554872
RGD:2312445
RGD:11554173
RGD:7240710
RGD:1358560
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Prx periaxin JBrowse link 1 84,302,074 84,324,560 RGD:8554872
G Rab7a RAB7A, member RAS oncogene family JBrowse link 4 119,910,461 119,963,065 RGD:8554872
G Reep1 receptor accessory protein 1 JBrowse link 4 99,618,622 99,735,329 RGD:8554872
G Retreg1 reticulophagy regulator 1 JBrowse link 2 78,391,921 78,401,569 RGD:8554872
G Sbf1 SET binding factor 1 JBrowse link 7 130,261,552 130,288,566 RGD:8554872
G Sbf2 SET binding factor 2 JBrowse link 1 174,948,361 175,420,161 RGD:8554872
G Scn11a sodium voltage-gated channel alpha subunit 11 JBrowse link 8 128,450,793 128,527,510 RGD:8554872
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
G Sema5a semaphorin 5A JBrowse link 2 85,377,318 85,808,970 RGD:8554872
G Septin9 septin 9 JBrowse link 10 106,208,308 106,340,747 RGD:8554872
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:8554872
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 18 57,286,266 57,403,926 RGD:8554872
G Slc12a6 solute carrier family 12, member 6 JBrowse link 3 103,752,213 103,852,686 RGD:8554872
G Slc25a46 solute carrier family 25, member 46 JBrowse link 18 24,369,104 24,397,412 RGD:11554173
G Slc5a7 solute carrier family 5 member 7 JBrowse link 9 5,294,377 5,330,822 RGD:8554872
G Sox10 SRY-box transcription factor 10 JBrowse link 7 120,393,238 120,403,523 RGD:8554872
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 JBrowse link 17 11,856,525 11,895,566 RGD:8554872
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 JBrowse link 6 111,334,408 111,417,960 RGD:8554872
G Tnfrsf11b TNF receptor superfamily member 11B JBrowse link 7 93,798,580 93,826,586 RGD:7205513
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:11554173
RGD:8554872
G Wnk1 WNK lysine deficient protein kinase 1 JBrowse link 4 152,452,211 152,578,469 RGD:8554872
G Yars1 tyrosyl-tRNA synthetase 1 JBrowse link 5 147,375,350 147,403,578 RGD:8554872
Charcot-Marie-Tooth Disease and Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:8554872
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 5 1,328,963 1,347,946 RGD:12738395
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2CC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nefh neurofilament heavy JBrowse link 14 85,181,572 85,191,557 RGD:8554872
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 12 23,839,390 23,841,051 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eloc elongin C JBrowse link 5 2,042,991 2,059,357 RGD:8554872
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:7240710
RGD:8554872
RGD:12738397
RGD:12738396
G Jph1 junctophilin 1 JBrowse link 5 1,417,414 1,511,754 RGD:7240710
RGD:8554872
G Ly96 lymphocyte antigen 96 JBrowse link 5 1,972,212 1,989,448 RGD:8554872
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:8554872
G Ube2w ubiquitin-conjugating enzyme E2W JBrowse link 5 29,798,845 29,812,777 RGD:8554872
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 12 45,905,371 45,920,014 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2N term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:7240710
RGD:8554872
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 6 134,958,854 135,085,769 RGD:7240710
RGD:8554872
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma JBrowse link 6 134,804,128 134,941,912 RGD:8554872
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 3 11,970,401 12,009,463 RGD:7240710
RGD:8554872
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 17 76,306,585 76,358,058 RGD:7240710
RGD:8554872
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 1 218,509,274 218,531,922 RGD:7240710
RGD:8554872
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 9 82,436,453 82,444,669 RGD:8554872
G Mme membrane metallo-endopeptidase JBrowse link 2 153,799,203 153,880,910 RGD:8554872
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 7 70,585,011 70,602,425 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Naglu N-acetyl-alpha-glucosaminidase JBrowse link 10 88,979,363 88,986,879 RGD:8554872
RGD:7240710
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:8554872
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 3 113,999,600 114,064,438 RGD:7240710
RGD:8554872
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 14 83,889,138 83,930,263 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease dominant intermediate B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:7240710
RGD:8554872
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 5 146,933,592 146,945,882 RGD:8554872
G Adprhl2 ADP-ribosylhydrolase like 2 JBrowse link 5 144,336,312 144,341,586 RGD:8554872
G Ago1 argonaute RISC component 1 JBrowse link 5 144,444,390 144,479,430 RGD:8554872
G Ago3 argonaute RISC catalytic component 3 JBrowse link 5 144,355,792 144,436,509 RGD:8554872
G Ago4 argonaute RISC component 4 JBrowse link 5 144,501,875 144,557,165 RGD:8554872
G Ak2 adenylate kinase 2 JBrowse link 5 147,185,474 147,204,050 RGD:8554872
G Akirin1 akirin 1 JBrowse link 5 141,415,226 141,430,627 RGD:8554872
G Akr1a1 aldo-keto reductase family 1 member A1 JBrowse link 5 135,482,068 135,498,693 RGD:8554872
G Armh1 armadillo-like helical domain containing 1 JBrowse link 5 136,073,056 136,112,344 RGD:8554872
G Artn artemin JBrowse link 5 136,759,717 136,765,036 RGD:8554872
G Atp6v0b ATPase H+ transporting V0 subunit B JBrowse link 5 136,718,352 136,719,868 RGD:8554872
G Azin2 antizyme inhibitor 2 JBrowse link 5 147,120,128 147,148,576 RGD:8554872
G B4galt2 beta-1,4-galactosyltransferase 2 JBrowse link 5 136,707,510 136,717,345 RGD:8554872
G Best4 bestrophin 4 JBrowse link 5 136,013,978 136,017,742 RGD:8554872
G Bmp8a bone morphogenetic protein 8a JBrowse link 5 141,007,462 141,033,511 RGD:8554872
G Btbd19 BTB domain containing 19 JBrowse link 5 135,988,549 135,994,985 RGD:8554872
G Cap1 cyclase associated actin cytoskeleton regulatory protein 1 JBrowse link 5 140,559,195 140,585,494 RGD:8554872
G Ccdc17 coiled-coil domain containing 17 JBrowse link 5 135,440,276 135,445,794 RGD:8554872
G Ccdc24 coiled-coil domain containing 24 JBrowse link 5 136,691,655 136,707,197 RGD:8554872
G Ccdc30 coiled-coil domain containing 30 JBrowse link 5 138,364,211 138,462,922 RGD:8554872
G Cdc20 cell division cycle 20 JBrowse link 5 137,260,728 137,264,931 RGD:8554872
G Cdca8 cell division cycle associated 8 JBrowse link 5 142,911,310 142,933,536 RGD:8554872
G Cfap57 cilia and flagella associated protein 57 JBrowse link 5
5
137,383,065
137,652,118
137,458,594
137,670,067
RGD:8554872
G Cited4 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4 JBrowse link 5 139,597,731 139,598,622 RGD:8554872
G Cldn19 claudin 19 JBrowse link 5 138,300,692 138,307,982 RGD:8554872
G Clspn claspin JBrowse link 5 144,577,670 144,617,507 RGD:8554872
G Col8a2 collagen type VIII alpha 2 chain JBrowse link 5 144,308,527 144,335,142 RGD:8554872
G Col9a2 collagen type IX alpha 2 chain JBrowse link 5 139,962,684 139,979,865 RGD:8554872
G Csf3r colony stimulating factor 3 receptor JBrowse link 5 144,031,353 144,051,966 RGD:8554872
G Csmd2 CUB and Sushi multiple domains 2 JBrowse link 5 146,091,167 146,743,436 RGD:8554872
G Ctps1 CTP synthase 1 JBrowse link 5 139,475,934 139,505,065 RGD:8554872
G Dlgap3 DLG associated protein 3 JBrowse link 5 145,234,757 145,304,536 RGD:8554872
G Dmap1 DNA methyltransferase 1-associated protein 1 JBrowse link 5 136,533,791 136,541,795 RGD:8554872
G Dnali1 dynein, axonemal, light intermediate chain 1 JBrowse link 5 143,053,365 143,062,203 RGD:8554872
G Dph2 diphthamide biosynthesis 2 JBrowse link 5 136,723,398 136,726,358 RGD:8554872
G Ebna1bp2 EBNA1 binding protein 2 JBrowse link 5 137,458,692 137,463,255 RGD:8554872
G Edn2 endothelin 2 JBrowse link 5 139,098,472 139,106,396 RGD:8554872
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma JBrowse link 5 135,882,946 135,949,276 RGD:8554872
G Elovl1 ELOVL fatty acid elongase 1 JBrowse link 5 137,255,868 137,260,486 RGD:8554872
G Epha10 EPH receptor A10 JBrowse link 5 142,875,171 142,910,537 RGD:8554872
G Eri3 ERI1 exoribonuclease family member 3 JBrowse link 5 136,406,009 136,533,408 RGD:8554872
G Ermap erythroblast membrane associated protein (Scianna blood group) JBrowse link 5 138,227,168 138,240,509 RGD:8554872
G Eva1b eva-1 homolog B JBrowse link 5 144,160,026 144,161,421 RGD:8554872
G Exo5 exonuclease 5 JBrowse link 5 139,849,930 139,853,247 RGD:8554872
G Fam183a family with sequence similarity 183 member A JBrowse link 10 44,736,547 44,746,907 RGD:8554872
G Fhl3 four and a half LIM domains 3 JBrowse link 5 142,688,962 142,696,330 RGD:8554872
G Fndc5 fibronectin type III domain containing 5 JBrowse link 5 147,323,240 147,330,266 RGD:8554872
G Foxj3 forkhead box J3 JBrowse link 5 138,587,968 138,676,948 RGD:8554872
G Foxo6 forkhead box O6 JBrowse link 5 139,208,153 139,227,288 RGD:8554872
G Gja4 gap junction protein, alpha 4 JBrowse link 5 145,374,688 145,377,221 RGD:8554872
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:8554872
G Gjb4 gap junction protein, beta 4 JBrowse link 5 145,416,343 145,421,122 RGD:8554872
G Gjb5 gap junction protein, beta 5 JBrowse link 5 145,422,034 145,440,558 RGD:8554872
G Gnl2 G protein nucleolar 2 JBrowse link 5 143,027,970 143,053,418 RGD:8554872
G Gpbp1l1 GC-rich promoter binding protein 1-like 1 JBrowse link 5 135,398,926 135,439,772 RGD:8554872
G Grik3 glutamate ionotropic receptor kainate type subunit 3 JBrowse link 5 143,500,441 143,715,546 RGD:8554872
G Guca2a guanylate cyclase activator 2A JBrowse link 5 138,685,634 138,687,476 RGD:8554872
G Guca2b guanylate cyclase activator 2B JBrowse link 5 138,695,591 138,697,641 RGD:8554872
G Hectd3 HECT domain E3 ubiquitin protein ligase 3 JBrowse link 5 135,860,578 135,870,535 RGD:8554872
G Heyl hes-related family bHLH transcription factor with YRPW motif-like JBrowse link 5 140,923,914 140,940,905 RGD:8554872
G Hivep3 human immunodeficiency virus type I enhancer binding protein 3 JBrowse link 5 138,774,501 139,077,403 RGD:8554872
G Hmgb4 high-mobility group box 4 JBrowse link 5 146,445,545 146,446,227 RGD:8554872
G Hpca hippocalcin JBrowse link 5 147,295,124 147,305,757 RGD:8554872
G Hpcal4 hippocalcin-like 4 JBrowse link 5 140,870,127 140,882,242 RGD:8554872
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like JBrowse link 5 135,675,826 135,677,432 RGD:8554872
G Hyi hydroxypyruvate isomerase JBrowse link 5 137,189,440 137,192,125 RGD:8554872
G Inpp5b inositol polyphosphate-5-phosphatase B JBrowse link 5 142,731,767 142,796,305 RGD:8554872
G Ipo13 importin 13 JBrowse link 5 136,728,744 136,749,187 RGD:8554872
G Ipp intracisternal A particle-promoted polypeptide JBrowse link 5 135,351,767 135,390,363 RGD:8554872
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 5 139,625,783 139,677,300 RGD:8554872
G Kdm4a lysine demethylase 4A JBrowse link 5 136,967,650 137,014,402 RGD:8554872
G Kif2c kinesin family member 2C JBrowse link 5 136,027,923 136,053,268 RGD:8554872
G Klf17 Kruppel-like factor 17 JBrowse link 5 136,602,472 136,610,058 RGD:8554872
G LOC100294508 dyslexia susceptibility 2-like JBrowse link 5 144,779,306 144,872,271 RGD:8554872
G LOC100361083 hypothetical LOC100361083 JBrowse link 5 141,096,801 141,100,963 RGD:8554872
G LOC100912566 UPF0500 protein C1orf216 homolog JBrowse link 5 146,320,693 146,342,159 RGD:8554872
G LOC682102 hypothetical protein LOC682102 JBrowse link 5 146,023,695 146,069,623 RGD:8554872
G Lsm10 LSM10, U7 small nuclear RNA associated JBrowse link 5 144,106,339 144,108,703 RGD:8554872
G Macf1 microtubule-actin crosslinking factor 1 JBrowse link 5 141,039,455 141,363,524 RGD:8554872
G Maneal mannosidase, endo-alpha-like JBrowse link 5 142,850,139 142,857,292 RGD:8554872
G Map7d1 MAP7 domain containing 1 JBrowse link 5 144,250,416 144,274,981 RGD:8554872
G Mast2 microtubule associated serine/threonine kinase 2 JBrowse link 5 135,149,336 135,285,337 RGD:8554872
G Meaf6 MYST/Esa1-associated factor 6 JBrowse link 5 143,081,298 143,103,225 RGD:8554872
G Mfsd2a major facilitator superfamily domain containing 2A JBrowse link 5 140,642,865 140,657,759 RGD:8554872
G Mir30c1 microRNA 30c-1 JBrowse link 5 139,699,877 139,699,965 RGD:8554872
G Mmachc metabolism of cobalamin associated C JBrowse link 5 135,555,587 135,561,723 RGD:8554872
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link 5 137,268,412 137,282,032 RGD:8554872
G Mrps15 mitochondrial ribosomal protein S15 JBrowse link 5 144,054,452 144,065,045 RGD:8554872
G Mtf1 metal-regulatory transcription factor 1 JBrowse link 5 142,797,340 142,843,896 RGD:8554872
G Mutyh mutY DNA glycosylase JBrowse link 5 135,663,328 135,675,348 RGD:8554872
G Mycbp Myc binding protein JBrowse link 5 141,560,192 141,567,399 RGD:8554872
G Mycl MYCL proto-oncogene, bHLH transcription factor JBrowse link 5 140,691,947 140,698,837 RGD:8554872
G Nasp nuclear autoantigenic sperm protein JBrowse link 5 135,446,485 135,472,113 RGD:8554872
G Ncdn neurochondrin JBrowse link 5 144,769,452 144,779,271 RGD:8554872
G Ndufs5 NADH:ubiquinone oxidoreductase subunit S5 JBrowse link 5 141,390,577 141,405,507 RGD:8554872
G Nfyc nuclear transcription factor Y subunit gamma JBrowse link 5 139,687,442 139,760,154 RGD:8554872
G Nt5c1a 5'-nucleotidase, cytosolic IA JBrowse link 5 140,888,862 140,909,322 RGD:8554872
G Oscp1 organic solute carrier partner 1 JBrowse link 5 144,067,391 144,099,693 RGD:8554872
G Oxct2b 3-oxoacid CoA transferase 2B JBrowse link 5 140,813,957 140,815,711 RGD:8554872
G P3h1 prolyl 3-hydroxylase 1 JBrowse link 5 138,279,597 138,294,280 RGD:8554872
G Pabpc4 poly(A) binding protein, cytoplasmic 4 JBrowse link 5 140,978,893 140,994,732 RGD:8554872
G Phc2 polyhomeotic homolog 2 JBrowse link 5 146,832,552 146,931,444 RGD:8554872
G Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 JBrowse link 5 135,069,972 135,145,633 RGD:8554872
G Plk3 polo-like kinase 3 JBrowse link 5 135,997,725 136,002,900 RGD:8554872
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
G Pou3f1 POU class 3 homeobox 1 JBrowse link 5 142,643,599 142,646,580 RGD:8554872
G Ppcs phosphopantothenoylcysteine synthetase JBrowse link 5 138,466,298 138,470,108 RGD:8554872
G Ppie peptidylprolyl isomerase E JBrowse link 5 140,822,141 140,835,244 RGD:8554872
G Ppih peptidylprolyl isomerase H JBrowse link 5 138,343,934 138,361,743 RGD:8554872
G Ppt1 palmitoyl-protein thioesterase 1 JBrowse link 5 140,538,260 140,558,163 RGD:8554872
G Prdx1 peroxiredoxin 1 JBrowse link 5 135,536,413 135,551,986 RGD:8554872
G Psmb2 proteasome 20S subunit beta 2 JBrowse link 5 144,702,004 144,734,220 RGD:8554872
G Ptch2 patched 2 JBrowse link 5 135,962,252 135,983,816 RGD:8554872
G Ptprf protein tyrosine phosphatase, receptor type, F JBrowse link 5 137,036,936 137,112,930 RGD:8554872
G RGD1305347 similar to RIKEN cDNA 2610528J11 JBrowse link 5 137,356,777 137,360,636 RGD:8554872
G RGD1559909 RGD1559909 JBrowse link 5 142,844,079 142,845,116 RGD:8554872
G RGD1560436 similar to hypothetical protein FLJ20508 JBrowse link 5 142,933,619 142,940,807 RGD:8554872
G RGD1564804 similar to chromosome 1 open reading frame 50 JBrowse link 5 138,274,907 138,279,285 RGD:8554872
G Rhbdl2 rhomboid like 2 JBrowse link 5 141,462,579 141,511,893 RGD:8554872
G Rimkla ribosomal modification protein rimK-like family member A JBrowse link 5 138,518,559 138,545,577 RGD:8554872
G Rims3 regulating synaptic membrane exocytosis 3 JBrowse link 5 139,790,395 139,819,014 RGD:8554872
G Rlf rearranged L-myc fusion JBrowse link 5 140,107,144 140,162,698 RGD:8554872
G Rnf19b ring finger protein 19B JBrowse link 5 147,246,032 147,270,892 RGD:8554872
G Rnf220 ring finger protein 220 JBrowse link 5 136,129,457 136,351,752 RGD:8554872
G Rps8 ribosomal protein S8 JBrowse link 5 136,020,941 136,023,511 RGD:8554872
G Rragc Ras-related GTP binding C JBrowse link 5 141,572,536 141,590,784 RGD:8554872
G Rspo1 R-spondin 1 JBrowse link 5 142,986,526 143,007,847 RGD:8554872
G S100pbp S100P binding protein JBrowse link 5 147,333,890 147,375,151 RGD:8554872
G Scmh1 Scm polycomb group protein homolog 1 JBrowse link 5 139,379,256 139,466,805 RGD:8554872
G Sf3a3 splicing factor 3a, subunit 3 JBrowse link 5 142,702,721 142,722,350 RGD:8554872
G Sfpq splicing factor proline and glutamine rich JBrowse link 5 145,079,803 145,088,517 RGD:8554872
G Sh3d21 SH3 domain containing 21 JBrowse link 5 144,161,881 144,178,161 RGD:8554872
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:8554872
G Slc6a9 solute carrier family 6 member 9 JBrowse link 5 136,669,674 136,703,702 RGD:8554872
G Slfnl1 schlafen-like 1 JBrowse link 5 139,467,933 139,473,599 RGD:8554872
G Smap2 small ArfGAP2 JBrowse link 5 139,885,321 139,931,366 RGD:8554872
G Smim12 small integral membrane protein 12 JBrowse link 5 145,311,317 145,315,185 RGD:8554872
G Snip1 Smad nuclear interacting protein 1 JBrowse link 15 19,275,273 19,282,753 RGD:8554872
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:8554872
G Stk40 serine/threonine kinase 40 JBrowse link 5 144,112,612 144,150,653 RGD:8554872
G Svbp small vasohibin binding protein JBrowse link 5 138,245,639 138,251,353 RGD:8554872
G Szt2 SZT2 subunit of KICSTOR complex JBrowse link 5 137,192,120 137,238,384 RGD:8554872
G Tctex1d4 Tctex1 domain containing 4 JBrowse link 5 135,995,128 135,997,807 RGD:8554872
G Tekt2 tektin 2 JBrowse link 5 144,341,955 144,345,500 RGD:8554872
G Tesk2 testis associated actin remodelling kinase 2 JBrowse link 5 135,574,172 135,659,842 RGD:8554872
G Tfap2e transcription factor AP-2 epsilon JBrowse link 5 144,740,950 144,761,787 RGD:8554872
G Thrap3 thyroid hormone receptor associated protein 3 JBrowse link 5 144,178,248 144,221,318 RGD:8554872
G Tie1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 JBrowse link 5 137,294,544 137,321,116 RGD:8554872
G Tmco2 transmembrane and coiled-coil domains 2 JBrowse link 5 140,019,871 140,024,458 RGD:8554872
G Tmem125 transmembrane protein 125 JBrowse link 5 137,371,825 137,373,229 RGD:8554872
G Tmem35b transmembrane protein 35B JBrowse link 5 145,188,323 145,191,953 RGD:8554872
G Tmem53 transmembrane protein 53 JBrowse link 5 136,112,417 136,127,976 RGD:8554872
G Tmem54 transmembrane protein 54 JBrowse link 5 147,288,700 147,295,191 RGD:8554872
G Tmem69 transmembrane protein 69 JBrowse link 5 135,394,013 135,397,591 RGD:8554872
G Toe1 target of EGR1, exonuclease JBrowse link 5 135,659,733 135,663,299 RGD:8554872
G Trappc3 trafficking protein particle complex 3 JBrowse link 5 144,281,720 144,295,306 RGD:8554872
G Trim62 tripartite motif-containing 62 JBrowse link 5 147,068,725 147,099,024 RGD:8554872
G Trit1 tRNA isopentenyltransferase 1 JBrowse link 5 140,711,943 140,756,893 RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
G Urod uroporphyrinogen decarboxylase JBrowse link 5 135,855,429 135,859,515 RGD:8554872
G Utp11 UTP11, small subunit processome component JBrowse link 5 142,666,288 142,681,173 RGD:8554872
G Yars1 tyrosyl-tRNA synthetase 1 JBrowse link 5 147,375,350 147,403,578 RGD:7240710
RGD:8554872
G Ybx1 Y box binding protein 1 JBrowse link 5 138,319,754 138,336,721 RGD:8554872
G Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing JBrowse link 5 142,845,265 142,850,110 RGD:8554872
G Zc3h12a zinc finger CCCH type containing 12A JBrowse link 5 143,111,342 143,120,131 RGD:8554872
G Zfp362 zinc finger protein 362 JBrowse link 5 146,951,195 146,985,450 RGD:8554872
G Zfp69 zinc finger protein 69 JBrowse link 5 139,856,457 139,871,896 RGD:8554872
G Zfp691 zinc finger protein 691 JBrowse link 5 138,217,841 138,222,534 RGD:8554872
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:8554872
G Zmym1 zinc finger MYM-type containing 1 JBrowse link 5 145,106,518 145,123,869 RGD:8554872
G Zmym4 zinc finger MYM-type containing 4 JBrowse link 5 144,878,212 144,996,431 RGD:8554872
G Zmym6 zinc finger MYM-type containing 6 JBrowse link 5 145,138,667 145,186,285 RGD:8554872
G Zmynd12 zinc finger, MYND-type containing 12 JBrowse link 5 138,470,165 138,505,928 RGD:8554872
G Zscan20 zinc finger and SCAN domain containing 20 JBrowse link 5 146,760,822 146,788,945 RGD:8554872
G Zswim5 zinc finger, SWIM-type containing 5 JBrowse link 5 135,735,825 135,854,525 RGD:8554872
Charcot-Marie-Tooth disease dominant intermediate D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:7240710
Charcot-Marie-Tooth disease dominant intermediate E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inf2 inverted formin, FH2 and WH2 domain containing JBrowse link 6 137,162,593 137,180,198 RGD:7240710
RGD:8554872
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 2 118,978,965 119,007,877 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease dominant intermediate G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease intermediate type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:8554872
G Kars lysyl-tRNA synthetase JBrowse link 19 44,212,205 44,231,209 RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
G S100pbp S100P binding protein JBrowse link 5 147,333,890 147,375,151 RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
G Yars1 tyrosyl-tRNA synthetase 1 JBrowse link 5 147,375,350 147,403,578 RGD:8554872
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 5 1,328,963 1,347,946 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease recessive intermediate B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kars lysyl-tRNA synthetase JBrowse link 19 44,212,205 44,231,209 RGD:7240710
RGD:8554872
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 5 169,244,778 169,288,310 RGD:8554872
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 5 169,244,778 169,288,310 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease recessive intermediate D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox6a1 cytochrome c oxidase subunit 6A1 JBrowse link 12 47,024,442 47,027,495 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdrt4 CMT1A duplicated region transcript 4 JBrowse link 10 49,368,183 49,400,284 RGD:8554872
G Egr2 early growth response 2 JBrowse link 20 22,452,170 22,461,018 RGD:8554872
G Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 JBrowse link 10 50,369,097 50,402,584 RGD:8554872
G Litaf lipopolysaccharide-induced TNF factor JBrowse link 10 4,753,546 4,763,272 RGD:8554872
G LOC102553110 ral guanine nucleotide dissociation stimulator-like JBrowse link 16 12,173,055 12,177,781 RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
G Tekt3 tektin 3 JBrowse link 10 49,472,520 49,506,473 RGD:8554872
Charcot-Marie-Tooth disease type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdrt4 CMT1A duplicated region transcript 4 JBrowse link 10 49,368,183 49,400,284 RGD:8554872
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 10 50,439,778 50,563,920 RGD:8554872
G Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 JBrowse link 10 50,369,097 50,402,584 RGD:8554872
G LOC102553110 ral guanine nucleotide dissociation stimulator-like JBrowse link 16 12,173,055 12,177,781 RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:7240710
RGD:8554872
G Tekt3 tektin 3 JBrowse link 10 49,472,520 49,506,473 RGD:8554872
Charcot-Marie-Tooth disease type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
RGD:7240710
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
Charcot-Marie-Tooth disease type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Litaf lipopolysaccharide-induced TNF factor JBrowse link 10 4,753,546 4,763,272 RGD:7240710
RGD:8554872
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:8554872
Charcot-Marie-Tooth disease type 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Egr2 early growth response 2 JBrowse link 20 22,452,170 22,461,018 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth Disease Type 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmp2 peripheral myelin protein 2 JBrowse link 2 93,827,504 93,831,419 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:8554872
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 JBrowse link 2 187,964,100 188,022,847 RGD:8554872
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:8554872
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:8554872
G Cog4 component of oligomeric golgi complex 4 JBrowse link 19 43,358,057 43,391,828 RGD:8554872
G Col12a1 collagen type XII alpha 1 chain JBrowse link 8 87,042,820 87,150,701 RGD:8554872
G Ddx19a DEAD-box helicase 19A JBrowse link 19 43,251,510 43,271,865 RGD:8554872
G Ddx19b DEAD-box helicase 19B JBrowse link 19 43,217,199 43,246,196 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Fcsk fucose kinase JBrowse link 19 43,338,146 43,357,826 RGD:8554872
G Gars glycyl-tRNA synthetase JBrowse link 4 85,235,122 85,276,085 RGD:8554872
G Hspb1 heat shock protein family B (small) member 1 JBrowse link 12 23,839,390 23,841,051 RGD:8554872
G Hspb8 heat shock protein family B (small) member 8 JBrowse link 12 45,905,371 45,920,014 RGD:8554872
G Il34 interleukin 34 JBrowse link 19 40,855,537 40,905,007 RGD:8554872
G Khdc4 KH domain containing 4, pre-mRNA splicing factor JBrowse link 2 188,051,657 188,080,280 RGD:8554872
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:8554872
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 JBrowse link 2 187,911,530 187,914,930 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:8554872
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
G Mex3a mex-3 RNA binding family member A JBrowse link 2 187,893,678 187,902,546 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
G Pmf1 polyamine-modulated factor 1 JBrowse link 2 187,751,770 187,771,933 RGD:8554872
G Rab25 RAB25, member RAS oncogene family JBrowse link 2 187,903,301 187,909,398 RGD:8554872
G Rab7a RAB7A, member RAS oncogene family JBrowse link 4 119,910,461 119,963,065 RGD:8554872
G Rit1 Ras-like without CAAX 1 JBrowse link 2 188,087,486 188,099,444 RGD:8554872
G Rxfp4 relaxin family peptide/INSL5 receptor 4 JBrowse link 2 188,026,531 188,027,685 RGD:8554872
G Sema4a semaphorin 4A JBrowse link 2 187,799,568 187,823,014 RGD:8554872
G Sf3b3 splicing factor 3b, subunit 3 JBrowse link 19 43,392,071 43,429,582 RGD:8554872
G Slc25a44 solute carrier family 25, member 44 JBrowse link 2 187,772,013 187,786,829 RGD:8554872
G Ssr2 signal sequence receptor subunit 2 JBrowse link 2 187,951,316 187,960,067 RGD:8554872
G St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 JBrowse link 19 43,273,251 43,324,265 RGD:8554872
G Tfg trafficking from ER to golgi regulator JBrowse link 11 46,180,189 46,206,723 RGD:13592920
RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
G Ubqln4 ubiquilin 4 JBrowse link 2 187,915,701 187,931,035 RGD:8554872
Charcot-Marie-Tooth disease type 2A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:7240710
RGD:8554872
RGD:12738406
Charcot-Marie-Tooth disease type 2A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:12738379
RGD:8554872
RGD:11554173
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 2 122,782,051 122,806,166 RGD:8554872
G LOC100362908 hCG20001-like JBrowse link 4 119,572,669 119,626,852 RGD:8554872
G Rab7a RAB7A, member RAS oncogene family JBrowse link 4 119,910,461 119,963,065 RGD:8554872
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 2 187,842,884 187,863,552 RGD:1358482
RGD:8554872
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 1 100,872,240 100,887,864 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gars glycyl-tRNA synthetase JBrowse link 4 85,235,122 85,276,085 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 2E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:7240710
RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:8554872
Charcot-Marie-Tooth disease type 2I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 2R term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trim2 tripartite motif-containing 2 JBrowse link 2 183,145,096 183,223,819 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 2Y term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Egr2 early growth response 2 JBrowse link 20 22,452,170 22,461,018 RGD:7240710
RGD:8554872
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:7240710
RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:7240710
RGD:8554872
G Prx periaxin JBrowse link 1 84,302,074 84,324,560 RGD:8554872
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 7 107,695,227 107,723,759 RGD:8554872
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
G Fgd4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 11 88,699,222 88,796,677 RGD:8554872
G Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 20 45,922,806 46,044,754 RGD:8554872
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 7 106,714,479 107,009,639 RGD:8554872
G Lrrc6 leucine rich repeat containing 6 JBrowse link 7 107,130,402 107,231,507 RGD:8554872
G Mtmr2 myotubularin related protein 2 JBrowse link 8 12,283,471 12,334,014 RGD:8554872
G Ndrg1 N-myc downstream regulated 1 JBrowse link 7 107,734,326 107,775,701 RGD:8554872
G Phf20l1 PHD finger protein 20-like 1 JBrowse link 7
7
107,406,948
108,613,731
107,445,219
108,759,741
RGD:8554872
G Prx periaxin JBrowse link 1 84,302,074 84,324,560 RGD:8554872
G Sbf1 SET binding factor 1 JBrowse link 7 130,261,552 130,288,566 RGD:8554872
G Sbf2 SET binding factor 2 JBrowse link 1 174,948,361 175,420,161 RGD:8554872
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 18 57,286,266 57,403,926 RGD:8554872
G Sla src-like adaptor JBrowse link 7 107,585,055 107,604,950 RGD:8554872
G Tg thyroglobulin JBrowse link 7 107,467,260 107,652,897 RGD:8554872
G Tmem71 transmembrane protein 71 JBrowse link 7 107,264,235 107,392,808 RGD:8554872
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 5 1,328,963 1,347,946 RGD:7240710
RGD:8554872
RGD:12738393
RGD:12738391
G Jph1 junctophilin 1 JBrowse link 5 1,417,414 1,511,754 RGD:8554872
G Ly96 lymphocyte antigen 96 JBrowse link 5 1,972,212 1,989,448 RGD:8554872
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:8554872
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 5 1,328,963 1,347,946 RGD:7240710
RGD:8554872
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:11554173
Charcot-Marie-Tooth disease type 4B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtmr2 myotubularin related protein 2 JBrowse link 8 12,283,471 12,334,014 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sbf2 SET binding factor 2 JBrowse link 1 174,948,361 175,420,161 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4B3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sbf1 SET binding factor 1 JBrowse link 7 130,261,552 130,288,566 RGD:7240710
RGD:8554872
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 18 57,286,266 57,403,926 RGD:7240710
RGD:8554872
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 7 107,734,326 107,775,701 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 4E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Egr2 early growth response 2 JBrowse link 20 22,452,170 22,461,018 RGD:7240710
RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
Charcot-Marie-Tooth disease type 4F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prx periaxin JBrowse link 1 84,302,074 84,324,560 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hk1 hexokinase 1 JBrowse link 20 31,911,460 31,979,780 RGD:7240710
RGD:8554872
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 11 88,699,222 88,796,677 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 20 45,922,806 46,044,754 RGD:7240710
RGD:8554872
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 3 5,461,717 5,464,560 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:1601409
RGD:13592920
RGD:8554872
G Slc25a46 solute carrier family 25, member 46 JBrowse link 18 24,369,104 24,397,412 RGD:13592920
Charcot-Marie-Tooth Disease Type 6A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
RGD:7240710
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 18 24,369,104 24,397,412 RGD:11554173
RGD:7240710
RGD:8554872
Charcot-Marie-Tooth Disease Type 6C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdxk pyridoxal kinase JBrowse link 20 10,930,651 10,952,194 RGD:8554872
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 135,304,063 135,343,062 RGD:8554872
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
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 71,272,030 71,279,973 RGD:7240710
RGD:8554872
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 62,836,131 62,904,114 RGD:7240710
RGD:8554872
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 135,304,063 135,343,062 RGD:7240710
RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
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 111,798,233 111,820,270 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:8554872
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 18 29,611,545 29,629,087 RGD:8554872
RGD:7240710
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:7240710
RGD:8554872
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease, Axonal, Type 2DD term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 2 204,003,742 204,032,023 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease, Axonal, Type 2EE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease, Dominant Intermediate 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
Charcot-Marie-Tooth Disease, Type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:1601408
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankfy1 ankyrin repeat and FYVE domain containing 1 JBrowse link 10 59,259,955 59,331,669 RGD:13592920
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:7240710
RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:8554872
choreaacanthocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps13a vacuolar protein sorting 13 homolog A JBrowse link 1 235,352,513 235,813,597 RGD:8554872
RGD:7240710
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc9a6 solute carrier family 9 member A6 JBrowse link X 158,979,081 159,045,019 RGD:7240710
RGD:8554872
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:8554872
RGD:11554173
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 2,066,298 2,116,661 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 152,933,118 152,964,399 RGD:7240710
RGD:8554872
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:7240710
RGD:8554872
RGD:12904735
RGD:12904728
RGD:11568595
G Mnt MAX network transcriptional repressor JBrowse link 10 61,683,776 61,700,504 RGD:11554173
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 JBrowse link 10 61,456,144 61,577,412 RGD:8554872
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 80,256,973 80,268,198 RGD:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:10401080
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:10401087
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:10401090
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:8554872
RGD:11554173
RGD:11567232
RGD:10401100
RGD:10401095
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:7246919
RGD:11064547
RGD:8554872
RGD:11554173
RGD:10401108
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:10003139
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:10003139
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:10401087
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 39,434,617 39,473,392 RGD:10401106
RGD:8554872
RGD:7240710
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
Cockayne Syndrome B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:8554872
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 37,469,736 37,576,055 RGD:7240710
RGD:8554872
RGD:11554173
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 15 104,186,918 104,226,236 RGD:7240710
RGD:8554872
combined saposin deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:7240710
RGD:8554872
Copper-Overload Cirrhosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:11554173
G Casp3 caspase 3 JBrowse link 16 48,845,011 48,863,249 RGD:11554173
G Commd1 copper metabolism domain containing 1 JBrowse link 14 107,664,321 107,759,974 RGD:11554173
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:11554173
G Krt19 keratin 19 JBrowse link 10 88,055,843 88,060,560 RGD:11554173
G Krt7 keratin 7 JBrowse link 7 143,059,731 143,075,907 RGD:11554173
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:11554173
G Mki67 marker of proliferation Ki-67 JBrowse link 1 207,993,895 208,020,454 RGD:11554173
G Smad2 SMAD family member 2 JBrowse link 18 72,550,107 72,612,078 RGD:11554173
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
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 70,322,764 70,345,005 RGD:7240710
RGD:8554872
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 17 77,642,302 77,918,210 RGD:8554872
RGD:7240710
creatine transporter deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a8 solute carrier family 6 member 8 JBrowse link X 157,129,987 157,139,321 RGD:7240710
RGD:8554872
RGD:11554173
Danon disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap14 A-kinase anchoring protein 14 JBrowse link X 123,773,430 123,788,898 RGD:8554872
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 JBrowse link X 124,631,544 124,652,520 RGD:8554872
G Lamp2 lysosomal-associated membrane protein 2 JBrowse link X 124,722,628 124,766,079 RGD:7240710
RGD:8554872
RGD:13703117
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 RGD:13703117
G LOC100364002 reproductive homeobox 9-like JBrowse link X 123,999,683 124,002,081 RGD:8554872
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 JBrowse link X 123,803,109 123,806,760 RGD:8554872
G Nkap NFKB activating protein JBrowse link X 123,751,196 123,770,595 RGD:8554872
G Rhox10 reproductive homeobox 10 JBrowse link X 124,207,017 124,211,455 RGD:8554872
G Rnf113a1 ring finger protein 113A1 JBrowse link X 123,806,922 123,808,049 RGD:8554872
G Tmem255a transmembrane protein 255A JBrowse link X 124,400,686 124,465,156 RGD:8554872
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay JBrowse link X 123,713,327 123,731,431 RGD:8554872
G Zbtb33 zinc finger and BTB domain containing 33 JBrowse link X 124,319,299 124,326,506 RGD:8554872
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atn1 atrophin 1 JBrowse link 4 157,267,394 157,281,199 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 12 45,905,371 45,920,014 RGD:7240710
RGD:8554872
distal hereditary motor neuronopathy type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc5a7 solute carrier family 5 member 7 JBrowse link 9 5,294,377 5,330,822 RGD:8554872
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 20 28,076,784 28,158,053 RGD:8554872
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:8554872
G Gcc2 GRIP and coiled-coil domain containing 2 JBrowse link 20 27,832,960 27,879,764 RGD:8554872
G Lims1 LIM zinc finger domain containing 1 JBrowse link 20 27,895,981 28,004,767 RGD:8554872
G LOC100910235 sulfotransferase 1C1-like JBrowse link 9 4,323,997 4,328,175 RGD:8554872
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872
G Slc5a7 solute carrier family 5 member 7 JBrowse link 9 5,294,377 5,330,822 RGD:7240710
RGD:8554872
G Sult1c2a sulfotransferase family, cytosolic, 1C, member 2a JBrowse link 9 4,152,588 4,168,355 RGD:8554872
G Sult1c3 sulfotransferase family 1C member 3 JBrowse link 9 4,931,038 4,978,847 RGD:8554872
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dctn1 dynactin subunit 1 JBrowse link 4 114,876,770 114,896,567 RGD:7240710
RGD:8554872
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 5 169,244,778 169,288,310 RGD:8554872
Dystonia Musculorum Deformans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tor1a torsin family 1, member A JBrowse link 3 9,800,322 9,807,318 RGD:634735
early infantile epileptic encephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bend2 BEN domain containing 2 JBrowse link X 35,151,376 35,200,501 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
RGD:7240710
RGD:12791015
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872
G Rai2 retinoic acid induced 2 JBrowse link X 34,731,891 34,794,589 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
G Scml1 Scm polycomb group protein like 1 JBrowse link X 34,676,728 34,694,251 RGD:8554872
G Scml2 Scm polycomb group protein like 2 JBrowse link X 35,305,235 35,431,271 RGD:8554872
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 3 57,881,951 57,998,214 RGD:7240710
RGD:8554872
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 3 37,950,846 38,211,478 RGD:7240710
RGD:8554872
episodic ataxia type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc1a3 solute carrier family 1 member 3 JBrowse link 2 57,860,881 57,935,363 RGD:7240710
RGD:8554872
Familial Amyloid Polyneuropathies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoa1 apolipoprotein A1 JBrowse link 8 50,525,091 50,526,875 RGD:8554872
G F10 coagulation factor X JBrowse link 16 81,803,169 81,822,476 RGD:11041730
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:11041730
G Ttr transthyretin JBrowse link 18 15,532,963 15,542,180 RGD:1331525
RGD:11554173
familial encephalopathy with neuroserpin inclusion bodies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:8554872
G Serpinb7 serpin family B member 7 JBrowse link 13 27,282,456 27,354,775 RGD:7207386
G Serpini1 serpin family I member 1 JBrowse link 2 174,013,058 174,111,693 RGD:7240710
RGD:8554872
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 19 25,453,236 25,749,550 RGD:8554872
RGD:11554173
RGD:7240710
FG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6ap2 ATPase H+ transporting accessory protein 2 JBrowse link X 11,137,889 11,164,854 RGD:8554872
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:8554872
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:7240710
RGD:8554872
RGD:11576290
G Ddx3x DEAD-box helicase 3, X-linked JBrowse link X 10,400,363 10,414,010 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
RGD:11554173
G Gpr34 G protein-coupled receptor 34 JBrowse link X 10,022,986 10,043,504 RGD:8554872
G Gpr82 G protein-coupled receptor 82 JBrowse link X 9,992,832 10,001,036 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910952
RGD:12910948
RGD:11554173
G Med14 mediator complex subunit 14 JBrowse link X 10,964,035 11,082,403 RGD:8554872
G Mpc1l mitochondrial pyruvate carrier 1-like JBrowse link X 11,098,849 11,105,312 RGD:8554872
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:8554872
G RGD1565685 similar to RIKEN cDNA 1810030O07 JBrowse link X 11,082,668 11,105,588 RGD:8554872
G Usp9x ubiquitin specific peptidase 9, X-linked JBrowse link X 10,510,033 10,660,555 RGD:8554872
Finnish type amyloidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gsn gelsolin JBrowse link 3 14,456,106 14,508,922 RGD:7240710
RGD:8554872
Fitzsimmons-Guilbert Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 transducin (beta)-like 1 X-linked receptor 1 JBrowse link 2 107,221,913 107,359,229 RGD:8554872
fragile X syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgb androglobin JBrowse link 1 4,445,039 4,588,507 RGD:8554872
G Aff2 AF4/FMR2 family, member 2 JBrowse link X 153,539,951 154,051,022 RGD:7240710
RGD:8554872
G App amyloid beta precursor protein JBrowse link 11 24,425,013 24,641,872 RGD:11554173
G Cyfip1 cytoplasmic FMR1 interacting protein 1 JBrowse link 1 114,258,773 114,347,138 RGD:11558008
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:10401097
G Fmr1 FMRP translational regulator 1 JBrowse link X 154,684,924 154,722,369 RGD:1601178
RGD:8554872
RGD:11554173
RGD:11566052
RGD:11566028
RGD:7240710
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:8554872
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204755
RGD:11572344
G Nrxn3 neurexin 3 JBrowse link 6 112,133,204 114,069,589 RGD:11554325
G Rab32 RAB32, member RAS oncogene family JBrowse link 1 4,638,663 4,653,220 RGD:8554872
G Serpina1 serpin family A member 1 JBrowse link 6 127,610,241 127,632,265 RGD:8554872
fragile X-associated tremor/ataxia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fmr1 FMRP translational regulator 1 JBrowse link X 154,684,924 154,722,369 RGD:7240710
RGD:12050151
RGD:11554173
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8655858
Friedreich ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fxn frataxin JBrowse link 1 242,123,975 242,152,834 RGD:1598961
RGD:11554173
RGD:8554872
RGD:1582636
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490251
Friedreich ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fxn frataxin JBrowse link 1 242,123,975 242,152,834 RGD:7240710
RGD:8554872
Galloway-Mowat syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lage3 L antigen family, member 3 JBrowse link X 156,355,376 156,356,799 RGD:11554173
G Osgep O-sialoglycoprotein endopeptidase JBrowse link 15 27,842,447 27,849,866 RGD:11554173
G Tp53rk TP53 regulating kinase JBrowse link 3 163,552,166 163,555,925 RGD:11554173
G Tprkb Tp53rk binding protein JBrowse link 4 117,589,527 117,604,481 RGD:11554173
G Wdr73 WD repeat domain 73 JBrowse link 1 142,711,955 142,720,292 RGD:8554872
RGD:11554173
G Zfp592 zinc finger protein 592 JBrowse link 1 142,833,999 142,870,997 RGD:8554872
RGD:11554173
Galloway-Mowat Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr73 WD repeat domain 73 JBrowse link 1 142,711,955 142,720,292 RGD:7240710
RGD:8554872
G Zfp592 zinc finger protein 592 JBrowse link 1 142,833,999 142,870,997 RGD:8554872
Galloway-Mowat syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lage3 L antigen family, member 3 JBrowse link X 156,355,376 156,356,799 RGD:8554872
RGD:7240710
Galloway-Mowat syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Osgep O-sialoglycoprotein endopeptidase JBrowse link 15 27,842,447 27,849,866 RGD:8554872
RGD:7240710
Galloway-Mowat syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G