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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 12 4,977,245 4,988,283 RGD:9068941
G FTL ferritin light chain JBrowse link 6 54,231,121 54,232,756 RGD:9068941
G NGB neuroglobin JBrowse link 7 100,341,974 100,346,263 RGD:9068941
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 JBrowse link 6 51,917,956 51,967,624 RGD:7240710
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 13 118,907,299 118,913,270 RGD:7240710
adrenoleukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCD1 ATP binding cassette subfamily D member 1 JBrowse link X 124,485,076 124,501,742 RGD:7240710
RGD:9068941
G ACSBG1 acyl-CoA synthetase bubblegum family member 1 JBrowse link 7 47,705,091 47,760,797 RGD:9068941
G ARHGAP4 Rho GTPase activating protein 4 JBrowse link X 124,641,222 124,655,312 RGD:9068941
G ATP6AP1 ATPase H+ transporting accessory protein 1 JBrowse link X 124,952,532 124,960,344 RGD:9068941
G AVPR2 arginine vasopressin receptor 2 JBrowse link X 124,638,433 124,640,969 RGD:9068941
G BCAP31 B cell receptor associated protein 31 JBrowse link X 124,456,999 124,484,923 RGD:9068941
G DKC1 dyskerin pseudouridine synthase 1 JBrowse link X 125,218,928 125,228,881 RGD:9068941
G DNASE1L1 deoxyribonuclease 1 like 1 JBrowse link X 124,931,410 124,937,569 RGD:9068941
G EMD emerin JBrowse link X 124,883,047 124,885,429 RGD:9068941
G F8 coagulation factor VIII JBrowse link X 125,265,330 125,350,853 RGD:9068941
G FAM3A FAM3 metabolism regulating signaling molecule A JBrowse link X 125,015,985 125,025,119 RGD:9068941
G FAM50A family with sequence similarity 50 member A JBrowse link X 124,967,821 124,973,487 RGD:9068941
G FLNA filamin A JBrowse link X 124,889,934 124,915,000 RGD:9068941
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 125,029,147 125,041,040 RGD:9068941
G GAB3 GRB2 associated binding protein 3 JBrowse link X 125,158,148 125,209,080 RGD:9068941
G GDI1 GDP dissociation inhibitor 1 JBrowse link X 124,960,835 124,966,833 RGD:9068941
G HCFC1 host cell factor C1 JBrowse link X 124,673,125 124,694,846 RGD:9068941
G HMOX1 heme oxygenase 1 RGD:9068941
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma JBrowse link X 124,528,643 124,537,570 RGD:9068941
G IFNG interferon gamma JBrowse link 5 32,477,906 32,482,670 RGD:9068941
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 125,035,575 125,056,445 RGD:9068941
G IRAK1 interleukin 1 receptor associated kinase 1 JBrowse link X 124,717,604 124,724,855 RGD:9068941
G L1CAM L1 cell adhesion molecule JBrowse link X 124,595,649 124,618,292 RGD:9068941
G LAGE3 L antigen family member 3 JBrowse link X 125,001,673 125,003,206 RGD:9068941
G MECP2 methyl-CpG binding protein 2 JBrowse link X 124,735,523 124,789,063 RGD:9068941
G MMP2 matrix metallopeptidase 2 JBrowse link 6 30,059,247 30,087,031 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 17 48,179,690 48,186,782 RGD:9068941
G MPP1 membrane palmitoylated protein 1 JBrowse link X 125,230,412 125,252,384 RGD:9068941
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit JBrowse link X 124,658,429 124,662,744 RGD:9068941
G PDZD4 PDZ domain containing 4 JBrowse link X 124,543,845 124,567,477 RGD:9068941
G PEX13 peroxisomal biogenesis factor 13 JBrowse link 3 80,757,470 80,791,107 RGD:9068941
G PEX26 peroxisomal biogenesis factor 26 JBrowse link 5 70,133,024 70,142,515 RGD:9068941
G PLXNA3 plexin A3 JBrowse link X 124,982,307 124,997,098 RGD:9068941
G PLXNB3 plexin B3 JBrowse link X 124,507,953 124,522,780 RGD:9068941
G RENBP renin binding protein JBrowse link X 124,662,957 124,670,522 RGD:9068941
G RPL10 ribosomal protein L10 JBrowse link X 124,927,249 124,929,791 RGD:9068941
G SLC10A3 solute carrier family 10 member 3 JBrowse link X 125,010,128 125,013,992 RGD:9068941
G SLC6A8 solute carrier family 6 member 8 JBrowse link X 124,435,282 124,452,182 RGD:9068941
G SMIM9 small integral membrane protein 9 JBrowse link X 125,254,737 125,262,113 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 1 7,679,352 7,689,564 RGD:9068941
G SRPK3 SRSF protein kinase 3 JBrowse link X 124,524,102 124,528,607 RGD:9068941
G SSR4 signal sequence receptor subunit 4 JBrowse link X 124,537,545 124,541,635 RGD:9068941
G TAZ tafazzin JBrowse link X 124,940,036 124,946,275 RGD:9068941
G TEX28 testis expressed 28 JBrowse link X 124,828,222 124,840,093 RGD:9068941
G TIMP1 TIMP metallopeptidase inhibitor 1 JBrowse link X 42,103,251 42,106,289 RGD:9068941
G TKTL1 transketolase like 1 JBrowse link X 124,840,072 124,867,313 RGD:9068941
G TMEM187 transmembrane protein 187 JBrowse link X 124,695,050 124,699,349 RGD:9068941
G UBL4A ubiquitin like 4A JBrowse link X 125,007,121 125,009,657 RGD:9068941
Adult Refsum Disease, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PHYH phytanoyl-CoA 2-hydroxylase JBrowse link 10 48,404,298 48,423,978 RGD:9068941
Adult Refsum Disease, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PEX7 peroxisomal biogenesis factor 7 JBrowse link 1 27,257,872 27,346,529 RGD:7240710
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNB1 lamin B1 JBrowse link 2 129,807,228 129,862,211 RGD:7240710
Alexander Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC103 coiled-coil domain containing 103 JBrowse link 12 18,469,705 18,474,316 RGD:9068941
G GFAP glial fibrillary acidic protein JBrowse link 12 18,456,268 18,466,594 RGD:7240710
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC16A2 solute carrier family 16 member 2 JBrowse link X 59,748,685 59,861,018 RGD:7240710
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATR ATR serine/threonine kinase JBrowse link 13 83,175,515 83,289,986 RGD:9068941
G ATRX ATRX chromatin remodeler JBrowse link X 61,584,028 61,872,341 RGD:7240710
Alstrom syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALMS1 ALMS1 centrosome and basal body associated protein JBrowse link 3 69,253,742 69,417,043 RGD:7240710
RGD:9068941
Arts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PITX2 paired like homeodomain 2 JBrowse link 8 111,697,364 111,723,295 RGD:9068941
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 88,074,861 88,101,925 RGD:7240710
ataxia telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAT1 acetyl-CoA acetyltransferase 1 JBrowse link 9 36,525,266 36,545,634 RGD:9068941
G ATM ATM serine/threonine kinase JBrowse link 9 36,620,656 36,759,555 RGD:7240710
G BAK1 BCL2 antagonist/killer 1 JBrowse link 7 29,808,849 29,815,345 RGD:9068941
G BAX BCL2 associated X, apoptosis regulator JBrowse link 6 54,222,341 54,228,150 RGD:9068941
G C9H11orf65 chromosome 9 C11orf65 homolog JBrowse link 9 36,768,819 36,855,318 RGD:9068941
G HDAC4 histone deacetylase 4 JBrowse link 15 138,378,237 138,657,266 RGD:9068941
G IFNG interferon gamma JBrowse link 5 32,477,906 32,482,670 RGD:9068941
G IL2 interleukin 2 JBrowse link 8 101,640,938 101,645,683 RGD:9068941
G IL6 interleukin 6 JBrowse link 9 91,506,421 91,510,830 RGD:9068941
G NPAT nuclear protein, coactivator of histone transcription JBrowse link 9 36,554,800 36,620,515 RGD:9068941
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MRE11 MRE11 homolog, double strand break repair nuclease JBrowse link 9 26,572,352 26,634,596 RGD:9068941
G PCNA proliferating cell nuclear antigen JBrowse link 17 14,137,746 14,142,584 RGD:9068941
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APTX aprataxin JBrowse link 10 33,470,089 33,495,584 RGD:7240710
RGD:9068941
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 6 54,870,359 54,880,814 RGD:9068941
ataxia with oculomotor apraxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APTX aprataxin JBrowse link 10 33,470,089 33,495,584 RGD:9068941
G SETX senataxin JBrowse link 1 272,093,449 272,170,857 RGD:7240710
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 JBrowse link 12 53,979,206 54,046,927 RGD:7240710
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 6 54,870,359 54,880,814 RGD:7240710
Ataxia-Telangiectasia Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATM ATM serine/threonine kinase JBrowse link 9 36,620,656 36,759,555 RGD:9068941
G C9H11orf65 chromosome 9 C11orf65 homolog JBrowse link 9 36,768,819 36,855,318 RGD:9068941
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MRE11 MRE11 homolog, double strand break repair nuclease JBrowse link 9 26,572,352 26,634,596 RGD:7240710
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCNA proliferating cell nuclear antigen JBrowse link 17 14,137,746 14,142,584 RGD:7240710
Atkin Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 JBrowse link X 46,011,386 46,094,978 RGD:9068941
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FDXR ferredoxin reductase JBrowse link 12 6,372,224 6,382,769 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 2 68,981,564 69,040,364 RGD:7240710
autosomal dominant Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 8 4,362,678 4,405,185 RGD:7240710
autosomal recessive cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANO10 anoctamin 10 JBrowse link 13 26,734,098 27,006,163 RGD:9068941
G COQ8A coenzyme Q8A JBrowse link 10 14,597,237 14,643,394 RGD:9068941
G SPTBN2 spectrin beta, non-erythrocytic 2 JBrowse link 2 5,683,414 5,739,418 RGD:9068941
G SYNE1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1 13,715,644 14,201,711 RGD:9068941
G TDP1 tyrosyl-DNA phosphodiesterase 1 JBrowse link 7 111,767,094 111,853,262 RGD:9068941
G TWNK twinkle mtDNA helicase JBrowse link 14 112,068,463 112,076,169 RGD:9068941
autosomal recessive spinocerebellar ataxia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANO10 anoctamin 10 JBrowse link 13 26,734,098 27,006,163 RGD:7240710
autosomal recessive spinocerebellar ataxia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SYT14 synaptotagmin 14 JBrowse link 9 132,810,526 133,040,855 RGD:7240710
autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAF MAF bZIP transcription factor JBrowse link 6 8,468,736 8,910,012 RGD:9068941
G WWOX WW domain containing oxidoreductase JBrowse link 6 8,910,209 9,871,048 RGD:7240710
autosomal recessive spinocerebellar ataxia 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GRM1 glutamate metabotropic receptor 1 JBrowse link 1 19,183,221 19,572,853 RGD:7240710
autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPTBN2 spectrin beta, non-erythrocytic 2 JBrowse link 2 5,683,414 5,739,418 RGD:7240710
autosomal recessive spinocerebellar ataxia 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RUBCN rubicon autophagy regulator JBrowse link 13 134,299,971 134,363,620 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 3 41,090,787 41,093,620 RGD:9068941
G STUB1 STIP1 homology and U-box containing protein 1 JBrowse link 3 41,092,514 41,095,181 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 14 111,354,597 111,388,911 RGD:7240710
autosomal recessive spinocerebellar ataxia 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GRID2 glutamate ionotropic receptor delta type subunit 2 JBrowse link 8 125,821,195 127,130,617 RGD:7240710
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC9A1 solute carrier family 9 member A1 JBrowse link 6 84,373,921 84,426,447 RGD:7240710
autosomal recessive spinocerebellar ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PMPCA peptidase, mitochondrial processing subunit alpha RGD:7240710
autosomal recessive spinocerebellar ataxia 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYTB cytochrome b JBrowse link MT 15,342 16,481 RGD:9068941
G SNX14 sorting nexin 14 JBrowse link 1 54,460,645 54,547,204 RGD:7240710
autosomal recessive spinocerebellar ataxia 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCYL1 SCY1 like pseudokinase 1 JBrowse link 2 6,720,047 6,733,477 RGD:7240710
autosomal recessive spinocerebellar ataxia 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VWA3B von Willebrand factor A domain containing 3B JBrowse link 3 55,949,534 56,173,597 RGD:7240710
autosomal recessive spinocerebellar ataxia 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TDP2 tyrosyl-DNA phosphodiesterase 2 JBrowse link 7 19,489,381 19,502,437 RGD:7240710
autosomal recessive spinocerebellar ataxia 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UBA5 ubiquitin like modifier activating enzyme 5 JBrowse link 13 73,831,485 73,859,781 RGD:7240710
autosomal recessive spinocerebellar ataxia 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATG5 autophagy related 5 JBrowse link 1 72,343,950 72,520,402 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 6 50,403,691 50,425,730 RGD:7240710
autosomal recessive spinocerebellar ataxia 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDAP2 ganglioside induced differentiation associated protein 2 JBrowse link 4 102,878,743 102,954,581 RGD:7240710
Autosomal Recessive Spinocerebellar Ataxia 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G THG1L tRNA-histidine guanylyltransferase 1 like JBrowse link 16 65,602,637 65,610,619 RGD:7240710
autosomal recessive spinocerebellar ataxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VPS13D vacuolar protein sorting 13 homolog D JBrowse link 6 72,256,865 72,514,256 RGD:7240710
autosomal recessive spinocerebellar ataxia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TPP1 tripeptidyl peptidase 1 JBrowse link 9 3,135,580 3,143,408 RGD:7240710
autosomal recessive spinocerebellar ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ESR1 estrogen receptor 1 JBrowse link 1 14,217,032 14,604,906 RGD:9068941
G FBXO5 F-box protein 5 JBrowse link 1 13,466,961 13,478,496 RGD:9068941
G MTRF1L mitochondrial translational release factor 1 like JBrowse link 1 13,443,602 13,458,291 RGD:9068941
G MYCT1 MYC target 1 JBrowse link 1 13,651,397 13,667,210 RGD:9068941
G RGS17 regulator of G protein signaling 17 JBrowse link 1 13,340,253 13,442,058 RGD:9068941
G SYNE1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1 13,715,644 14,201,711 RGD:7240710
G VIP vasoactive intestinal peptide JBrowse link 1 13,611,786 13,620,250 RGD:9068941
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COA7 cytochrome c oxidase assembly factor 7 (putative) JBrowse link 6 159,511,862 159,528,982 RGD:7240710
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXC1 forkhead box C1 JBrowse link 7 837,088 840,593 RGD:9068941
G PAX6 paired box 6 JBrowse link 2 28,971,565 29,001,149 RGD:9068941
G PITX2 paired like homeodomain 2 JBrowse link 8 111,697,364 111,723,295 RGD:7240710
G PRDM5 PR/SET domain 5 JBrowse link 8 103,188,312 103,383,955 RGD:9068941
Basilicata-Akhtar syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MSL3 MSL complex subunit 3 JBrowse link X 8,519,366 8,535,249 RGD:7240710
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PHF6 PHD finger protein 6 JBrowse link X 110,249,010 110,311,503 RGD:7240710
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FAM172A family with sequence similarity 172 member A JBrowse link 2 100,477,770 100,893,594 RGD:9068941
G KIAA0825 KIAA0825 JBrowse link 2 100,935,165 101,291,983 RGD:9068941
G NR2F1 nuclear receptor subfamily 2 group F member 1 JBrowse link 2 100,447,661 100,457,510 RGD:7240710
G POU5F2 POU domain class 5, transcription factor 2 JBrowse link 2 100,602,508 100,624,006 RGD:9068941
Boucher-Neuhauser syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNPLA6 patatin like phospholipase domain containing 6 JBrowse link 2 71,577,165 71,602,756 RGD:7240710
Brody myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 JBrowse link 3 18,545,064 18,568,312 RGD:7240710
G ATXN2L ataxin 2 like JBrowse link 3 18,506,082 18,519,060 RGD:9068941
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 JBrowse link 3 18,568,264 18,586,259 RGD:9068941
G SH2B1 SH2B adaptor protein 1 JBrowse link 3 18,533,282 18,543,133 RGD:9068941
G TUFM Tu translation elongation factor, mitochondrial JBrowse link 3 18,521,119 18,524,705 RGD:9068941
Canavan disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ASPA aspartoacylase JBrowse link 12 49,612,845 49,630,303 RGD:7240710
RGD:9068941
G CSPG4 chondroitin sulfate proteoglycan 4 JBrowse link 7 57,949,182 57,988,602 RGD:9068941
G CTNS cystinosin, lysosomal cystine transporter JBrowse link 12 49,730,741 49,754,362 RGD:9068941
G EMC6 ER membrane protein complex subunit 6 JBrowse link 12 49,759,153 49,760,069 RGD:9068941
G GLUD1 glutamate dehydrogenase 1 JBrowse link 14 87,968,850 88,005,375 RGD:9068941
G HASPIN histone H3 associated protein kinase JBrowse link 12 49,820,435 49,823,515 RGD:9068941
G ITGAE integrin subunit alpha E JBrowse link 12 49,810,050 49,878,142 RGD:9068941
G P2RX5 purinergic receptor P2X 5 JBrowse link 12 49,780,241 49,796,287 RGD:9068941
G SHPK sedoheptulokinase JBrowse link 12 49,713,224 49,732,319 RGD:9068941
G SPATA22 spermatogenesis associated 22 JBrowse link 12 49,573,050 49,609,232 RGD:9068941
G TAX1BP3 Tax1 binding protein 3 JBrowse link 12 49,754,162 49,759,026 RGD:9068941
G TRPV1 transient receptor potential cation channel subfamily V member 1 JBrowse link 12 49,676,536 49,709,634 RGD:9068941
G TRPV3 transient receptor potential cation channel subfamily V member 3 JBrowse link 12 49,638,852 49,671,671 RGD:9068941
CAPOS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 6 49,905,851 49,927,437 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 10 9,685,641 9,739,816 RGD:7240710
Cayman type cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATCAY ATCAY kinesin light chain interacting caytaxin JBrowse link 2 74,800,048 74,838,923 RGD:7240710
cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATCAY ATCAY kinesin light chain interacting caytaxin JBrowse link 2 74,800,048 74,838,923 RGD:9068941
G ATM ATM serine/threonine kinase JBrowse link 9 36,620,656 36,759,555 RGD:9068941
G ATP6 ATP synthase F0 subunit 6 JBrowse link MT 9,120 9,800 RGD:9068941
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 2 65,491,784 65,871,068 RGD:9068941
G CACNA1G calcium voltage-gated channel subunit alpha1 G JBrowse link 12 26,838,633 26,912,344 RGD:9068941
G CEP104 centrosomal protein 104 JBrowse link 6 65,274,092 65,310,735 RGD:9068941
G CIZ1 CDKN1A interacting zinc finger protein 1 JBrowse link 1 268,618,972 268,642,064 RGD:9068941
G CLCN2 chloride voltage-gated channel 2 JBrowse link 13 122,234,731 122,249,889 RGD:9068941
G COQ8A coenzyme Q8A JBrowse link 10 14,597,237 14,643,394 RGD:9068941
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial JBrowse link 9 116,109,970 116,140,635 RGD:9068941
G DNM1 dynamin 1 JBrowse link 1 268,653,045 268,702,233 RGD:9068941
G DNMT1 DNA methyltransferase 1 JBrowse link 2 68,981,564 69,040,364 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 RGD:9068941
G ESR1 estrogen receptor 1 JBrowse link 1 14,217,032 14,604,906 RGD:9068941
G GJB1 gap junction protein beta 1 JBrowse link X 57,241,990 57,249,496 RGD:9068941
G GRM1 glutamate metabotropic receptor 1 JBrowse link 1 19,183,221 19,572,853 RGD:9068941
G HARS1 histidyl-tRNA synthetase 1 JBrowse link 2 142,387,563 142,401,232 RGD:9068941
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 12 51,923,764 51,931,875 RGD:9068941
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 JBrowse link 13 61,068,131 61,398,918 RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 4 90,421,956 90,457,406 RGD:9068941
G KIF1C kinesin family member 1C JBrowse link 12 51,899,762 51,924,465 RGD:9068941
G KIF7 kinesin family member 7 JBrowse link 7 55,200,591 55,220,237 RGD:9068941
G L2HGDH L-2-hydroxyglutarate dehydrogenase JBrowse link 1 180,020,862 180,069,168 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 6 72,026,512 72,056,439 RGD:9068941
G MLC1 modulator of VRAC current 1 JBrowse link 5 571,921 593,531 RGD:9068941
G MT-CO3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 9,800 10,583 RGD:9068941
G NOP56 NOP56 ribonucleoprotein JBrowse link 17 32,960,099 32,965,396 RGD:9068941
G PMM2 phosphomannomutase 2 JBrowse link 3 33,857,059 33,892,472 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 7 54,889,150 54,907,167 RGD:9068941
G POMT1 protein O-mannosyltransferase 1 JBrowse link 1 271,432,196 271,448,584 RGD:9068941
G PTRH2 peptidyl-tRNA hydrolase 2 JBrowse link 12 35,924,030 35,933,229 RGD:9068941
G RFC1 replication factor C subunit 1 JBrowse link 8 30,552,369 30,635,932 RGD:9068941
G RPGRIP1L RPGRIP1 like JBrowse link 6 31,564,937 31,660,540 RGD:9068941
G RPL27A ribosomal protein L27a JBrowse link 9 708,531 712,410 RGD:9068941
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 5 16,977,468 17,173,831 RGD:9068941
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 8 19,097,788 19,162,246 RGD:9068941
G SETX senataxin JBrowse link 1 272,093,449 272,170,857 RGD:9068941
G SLC2A1 solute carrier family 2 member 1 JBrowse link 6 168,535,398 168,561,170 RGD:9068941
G SNX14 sorting nexin 14 JBrowse link 1 54,460,645 54,547,204 RGD:9068941
G SPART spartin JBrowse link 11 12,313,211 12,346,226 RGD:9068941
G SPTBN2 spectrin beta, non-erythrocytic 2 JBrowse link 2 5,683,414 5,739,418 RGD:9068941
G SURF1 SURF1 cytochrome c oxidase assembly factor JBrowse link 1 272,965,637 272,970,516 RGD:9068941
G SYNE1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1 13,715,644 14,201,711 RGD:9068941
G SYNGAP1 synaptic Ras GTPase activating protein 1 JBrowse link 7 29,723,745 29,752,351 RGD:9068941
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FANCI FA complementation group I JBrowse link 7 54,811,024 54,889,992 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 7 54,889,150 54,907,167 RGD:9068941
cerebellar ataxia type 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRPC3 transient receptor potential cation channel subfamily C member 3 JBrowse link 8 102,129,539 102,206,512 RGD:7240710
cerebellar ataxia type 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA1G calcium voltage-gated channel subunit alpha1 G JBrowse link 12 26,838,633 26,912,344 RGD:7240710
cerebellar ataxia type 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MME membrane metalloendopeptidase JBrowse link 13 95,018,395 95,122,977 RGD:7240710
cerebellar ataxia type 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PUM1 pumilio RNA binding family member 1 JBrowse link 6 87,546,388 87,687,483 RGD:7240710
cerebellar ataxia type 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JMJD8 jumonji domain containing 8 JBrowse link 3 41,090,787 41,093,620 RGD:9068941
G STUB1 STIP1 homology and U-box containing protein 1 JBrowse link 3 41,092,514 41,095,181 RGD:7240710
cerebellar ataxia, mental retardation and dysequlibrium syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100523747 phospholipid-transporting ATPase IB JBrowse link 11 3,277,395 3,793,881 RGD:9068941
G VLDLR very low density lipoprotein receptor JBrowse link 1 219,178,501 219,210,332 RGD:9068941
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 1 219,178,501 219,210,332 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 12 47,921,818 47,933,782 RGD:7240710
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CA8 carbonic anhydrase 8 JBrowse link 4 73,047,867 73,172,215 RGD:7240710
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100523747 phospholipid-transporting ATPase IB JBrowse link 11 3,277,395 3,793,881 RGD:7240710
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELF2 E74 like ETS transcription factor 2 JBrowse link 8 87,774,594 87,878,847 RGD:9068941
G RFC1 replication factor C subunit 1 JBrowse link 8 30,552,369 30,635,932 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 13 32,845,110 32,988,851 RGD:7240710
G LOC100517372 cytochrome b561 domain-containing protein 2 JBrowse link 13 32,834,206 32,837,007 RGD:9068941
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 14 79,345,382 80,106,337 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 6 77,723,374 77,747,780 RGD:7240710
Cerebellofaciodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit 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 14 89,998,125 90,075,911 RGD:9068941
Cerebrooculofacioskeletal Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 6 51,734,318 51,757,508 RGD:9068941
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 14 89,998,125 90,075,911 RGD:7240710
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 6 51,734,318 51,757,508 RGD:7240710
Cerebrooculofacioskeletal Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC5 ERCC excision repair 5, endonuclease JBrowse link 11 71,141,823 71,168,326 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 6 51,783,537 51,808,898 RGD:7240710
G POLR1G RNA polymerase I subunit G JBrowse link 6 51,780,709 51,783,696 RGD:9068941
Charcot-Marie-Tooth disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS1 alanyl-tRNA synthetase 1 JBrowse link 6 13,298,336 13,321,423 RGD:9068941
G ARF1 ADP ribosylation factor 1 JBrowse link 2 51,219,597 51,237,640 RGD:9068941
G ARHGEF10 Rho guanine nucleotide exchange factor 10 JBrowse link 15 33,370,093 33,465,852 RGD:9068941
G ATL1 atlastin GTPase 1 JBrowse link 1 180,299,434 180,407,003 RGD:9068941
G ATP6 ATP synthase F0 subunit 6 JBrowse link MT 9,120 9,800 RGD:9068941
G ATP7A ATPase copper transporting alpha JBrowse link X 61,972,544 62,110,058 RGD:9068941
G BAG3 BAG cochaperone 3 JBrowse link 14 129,510,240 129,533,998 RGD:9068941
G BICD2 BICD cargo adaptor 2 JBrowse link 3 42,393,270 42,456,821 RGD:9068941
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 2 9,052,676 9,064,890 RGD:9068941
G CNTNAP2 contactin associated protein 2 JBrowse link 9 109,740,510 111,781,144 RGD:9068941
G CTDP1 CTD phosphatase subunit 1 JBrowse link 1 145,769,763 145,811,673 RGD:9068941
G DCTN1 dynactin subunit 1 JBrowse link 3 68,642,562 68,673,605 RGD:9068941
G DCTN2 dynactin subunit 2 JBrowse link 5 22,799,286 22,814,358 RGD:9068941
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 15 121,319,897 121,335,927 RGD:9068941
G DNM2 dynamin 2 JBrowse link 2 69,474,011 69,574,427 RGD:9068941
G DNMT1 DNA methyltransferase 1 JBrowse link 2 68,981,564 69,040,364 RGD:9068941
G DST dystonin JBrowse link 7 28,812,423 29,300,149 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 RGD:9068941
G EGR2 early growth response 2 JBrowse link 14 66,280,665 66,291,308 RGD:9068941
G ELP1 elongator complex protein 1 JBrowse link 1 249,905,550 249,980,570 RGD:9068941
G FBXO38 F-box protein 38 JBrowse link 2 149,674,300 149,722,875 RGD:9068941
G FGD4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 5 41,683,265 41,879,197 RGD:9068941
G FIG4 FIG4 phosphoinositide 5-phosphatase JBrowse link 1 75,694,151 75,847,021 RGD:9068941
G GAN gigaxonin JBrowse link 6 6,921,446 6,989,670 RGD:9068941
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 18 42,311,711 42,352,201 RGD:9068941
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 4 61,577,413 61,596,106 RGD:9068941
G GJB1 gap junction protein beta 1 JBrowse link X 57,241,990 57,249,496 RGD:9068941
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta JBrowse link 3 112,712,894 112,753,121 RGD:9068941
G HINT1 histidine triad nucleotide binding protein 1 JBrowse link 2 133,469,765 133,475,813 RGD:9068941
G HOXD10 homeobox D10 JBrowse link 15 81,911,372 81,921,164 RGD:9068941
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 3 10,038,074 10,039,441 RGD:9068941
G HSPB8 heat shock protein family B (small) member 8 JBrowse link 14 33,626,125 33,639,824 RGD:9068941
G IFRD1 interferon related developmental regulator 1 JBrowse link 18 33,198,002 33,248,912 RGD:9068941
G IGHMBP2 immunoglobulin mu DNA binding protein 2 JBrowse link 2 4,169,510 4,194,699 RGD:9068941
G INF2 inverted formin 2 RGD:9068941
G KARS1 lysyl-tRNA synthetase 1 JBrowse link 6 12,057,475 12,073,749 RGD:9068941
G KIF1B kinesin family member 1B JBrowse link 6 70,495,143 70,663,464 RGD:9068941
G LAMA2 laminin subunit alpha 2 JBrowse link 1 33,765,412 34,359,741 RGD:9068941
G LITAF lipopolysaccharide induced TNF factor JBrowse link 3 31,482,605 31,576,211 RGD:9068941
G LMNA lamin A/C JBrowse link 4 93,899,019 93,927,255 RGD:9068941
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 1 267,964,875 268,008,833 RGD:9068941
G MARS1 methionyl-tRNA synthetase 1 JBrowse link 5 22,752,405 22,785,509 RGD:9068941
G MED25 mediator complex subunit 25 JBrowse link 6 54,834,303 54,849,539 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 6 72,026,512 72,056,439 RGD:9068941
G MORC2 MORC family CW-type zinc finger 2 JBrowse link 14 47,755,264 47,800,432 RGD:9068941
G MPZ myelin protein zero JBrowse link 4 89,174,107 89,179,556 RGD:7240710
G MTMR2 myotubularin related protein 2 JBrowse link 9 27,864,335 27,974,448 RGD:9068941
G MYH14 myosin heavy chain 14 JBrowse link 6 55,097,851 55,200,754 RGD:9068941
G NDRG1 N-myc downstream regulated 1 JBrowse link 4 8,014,445 8,069,335 RGD:9068941
G NEFL neurofilament light JBrowse link 14 8,991,321 8,996,900 RGD:9068941
G NGF nerve growth factor JBrowse link 4 105,256,691 105,307,843 RGD:9068941
G NRG1 neuregulin 1 JBrowse link 15 52,625,550 53,688,003 RGD:9068941
G NTRK1 neurotrophic receptor tyrosine kinase 1 JBrowse link 4 93,219,509 93,237,944 RGD:9068941
G NTRK2 neurotrophic receptor tyrosine kinase 2 JBrowse link 10 30,030,050 30,429,938 RGD:9068941
G PLD3 phospholipase D family member 3 JBrowse link 6 48,645,347 48,667,394 RGD:9068941
G PMP22 peripheral myelin protein 22 JBrowse link 12 58,679,773 58,734,195 RGD:7240710
G POLR2F RNA polymerase II, I and III subunit F JBrowse link 5 9,905,359 9,917,721 RGD:9068941
G PRX periaxin JBrowse link 6 48,675,230 48,691,760 RGD:9068941
G RAB7A RAB7A, member RAS oncogene family JBrowse link 13 71,777,422 71,886,758 RGD:9068941
G REEP1 receptor accessory protein 1 JBrowse link 3 58,436,319 58,558,943 RGD:9068941
G RETREG1 reticulophagy regulator 1 JBrowse link 16 5,726,493 5,879,461 RGD:9068941
G SBF1 SET binding factor 1 JBrowse link 5 260,779 284,512 RGD:9068941
G SBF2 SET binding factor 2 JBrowse link 2 49,242,739 49,691,807 RGD:9068941
G SCN11A sodium voltage-gated channel alpha subunit 11 JBrowse link 13 23,602,378 23,692,281 RGD:9068941
G SCN9A sodium voltage-gated channel alpha subunit 9 JBrowse link 15 72,745,706 72,912,352 RGD:9068941
G SDHC succinate dehydrogenase complex subunit C JBrowse link 4 89,135,410 89,169,164 RGD:9068941
G SEMA5A semaphorin 5A JBrowse link 16 72,796,453 73,335,974 RGD:9068941
G SEPTIN9 septin 9 JBrowse link 12 4,254,771 4,347,526 RGD:9068941
G SETX senataxin JBrowse link 1 272,093,449 272,170,857 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 2 150,183,480 150,247,747 RGD:9068941
G SLC12A6 solute carrier family 12 member 6 JBrowse link 7 80,164,788 80,266,335 RGD:9068941
G SLC25A46 solute carrier family 25 member 46 JBrowse link 2 115,529,662 115,555,441 RGD:9068941
G SLC5A7 solute carrier family 5 member 7 JBrowse link 3 47,994,116 48,020,744 RGD:9068941
G SORD sorbitol dehydrogenase JBrowse link 1 126,659,198 126,701,084 RGD:9068941
G SOX10 SRY-box transcription factor 10 JBrowse link 5 9,890,439 9,901,746 RGD:9068941
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 JBrowse link 14 3,081,964 3,138,113 RGD:9068941
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 JBrowse link 7 100,545,360 100,638,973 RGD:9068941
G TFG trafficking from ER to golgi regulator JBrowse link 13 158,291,090 158,326,902 RGD:9068941
G TNFRSF11B TNF receptor superfamily member 11b JBrowse link 4 19,850,212 19,879,132 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 14 41,125,819 41,169,582 RGD:9068941
G WNK1 WNK lysine deficient protein kinase 1 JBrowse link 5 68,000,792 68,142,533 RGD:9068941
G YARS1 tyrosyl-tRNA synthetase 1 JBrowse link 6 89,088,122 89,118,837 RGD:9068941
Charcot-Marie-Tooth disease axonal type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 4 61,577,413 61,596,106 RGD:9068941
G NEFH neurofilament heavy JBrowse link 14 46,559,698 46,568,686 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 14 41,125,819 41,169,582 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2CC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEFH neurofilament heavy JBrowse link 14 46,559,698 46,568,686 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 3 10,038,074 10,039,441 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELOC elongin C JBrowse link 4 61,971,103 61,989,392 RGD:9068941
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 4 61,577,413 61,596,106 RGD:7240710
G JPH1 junctophilin 1 JBrowse link 4 61,628,304 61,716,550 RGD:7240710
G LY96 lymphocyte antigen 96 JBrowse link 4 61,919,806 61,950,712 RGD:9068941
G TMEM70 transmembrane protein 70 JBrowse link 4 61,958,605 61,966,041 RGD:9068941
G UBE2W ubiquitin conjugating enzyme E2 W JBrowse link 4 62,046,568 62,084,679 RGD:9068941
Charcot-Marie-Tooth disease axonal type 2L term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HSPB8 heat shock protein family B (small) member 8 JBrowse link 14 33,626,125 33,639,824 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2N term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS1 alanyl-tRNA synthetase 1 JBrowse link 6 13,298,336 13,321,423 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 RGD:7240710
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma RGD:9068941
Charcot-Marie-Tooth disease axonal type 2P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 1 267,964,875 268,008,833 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2Q term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 JBrowse link 10 59,820,418 59,875,322 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2S term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IGHMBP2 immunoglobulin mu DNA binding protein 2 JBrowse link 2 4,169,510 4,194,699 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2T term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 15 121,319,897 121,335,927 RGD:9068941
G MME membrane metalloendopeptidase JBrowse link 13 95,018,395 95,122,977 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 5 22,752,405 22,785,509 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2X term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPG11 SPG11 vesicle trafficking associated, spatacsin JBrowse link 1 126,890,464 126,998,014 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2Z term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MORC2 MORC family CW-type zinc finger 2 JBrowse link 14 47,755,264 47,800,432 RGD:7240710
Charcot-Marie-Tooth disease dominant intermediate B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNM2 dynamin 2 JBrowse link 2 69,474,011 69,574,427 RGD:7240710
Charcot-Marie-Tooth disease dominant intermediate C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A3GALT2 alpha 1,3-galactosyltransferase 2 JBrowse link 6 89,557,492 89,562,835 RGD:9068941
G ADPRS ADP-ribosylserine hydrolase JBrowse link 6 92,238,467 92,244,515 RGD:9068941
G AGO1 argonaute RISC component 1 JBrowse link 6 92,038,104 92,076,477 RGD:9068941
G AGO3 argonaute RISC catalytic component 3 JBrowse link 6 92,081,763 92,225,811 RGD:9068941
G AGO4 argonaute RISC component 4 JBrowse link 6 91,967,499 92,013,030 RGD:9068941
G AK2 adenylate kinase 2 JBrowse link 6 89,295,164 89,318,169 RGD:9068941
G AKIRIN1 akirin 1 JBrowse link 6 94,891,409 94,902,700 RGD:9068941
G AKR1A1 aldo-keto reductase family 1 member A1 JBrowse link 6 165,811,245 165,825,168 RGD:9068941
G ARMH1 armadillo like helical domain containing 1 JBrowse link 6 166,572,968 166,645,129 RGD:9068941
G ARTN artemin JBrowse link 6 167,356,363 167,361,370 RGD:9068941
G ATP6V0B ATPase H+ transporting V0 subunit b JBrowse link 6 167,316,945 167,320,355 RGD:9068941
G AZIN2 antizyme inhibitor 2 JBrowse link 6 89,346,860 89,385,323 RGD:9068941
G B4GALT2 beta-1,4-galactosyltransferase 2 JBrowse link 6 167,305,903 167,316,009 RGD:9068941
G BEST4 bestrophin 4 JBrowse link 6 166,540,767 166,547,149 RGD:9068941
G BMP8A bone morphogenetic protein 8a JBrowse link 6 95,322,454 95,366,546 RGD:9068941
G BMP8B bone morphogenetic protein 8b JBrowse link 6 95,568,702 95,599,152 RGD:9068941
G BTBD19 BTB domain containing 19 JBrowse link 6 166,520,266 166,526,725 RGD:9068941
G C6H1orf109 chromosome 6 C1orf109 homolog JBrowse link 6 93,741,085 93,750,596 RGD:9068941
G C6H1orf122 chromosome 6 C1orf122 homolog JBrowse link 6 93,833,766 93,834,925 RGD:9068941
G C6H1orf210 chromosome 6 C1orf210 homolog JBrowse link 6 167,959,845 167,963,610 RGD:9068941
G C6H1orf216 chromosome 6 C1orf216 homolog JBrowse link 6 91,885,865 91,890,503 RGD:9068941
G C6H1orf50 chromosome 6 C1orf50 homolog JBrowse link 6 168,656,998 168,668,079 RGD:9068941
G C6H1orf94 chromosome 6 C1orf94 homolog JBrowse link 6 90,440,933 90,482,347 RGD:9068941
G CAP1 cyclase associated actin cytoskeleton regulatory protein 1 JBrowse link 6 95,811,485 95,840,576 RGD:9068941
G CCDC17 coiled-coil domain containing 17 JBrowse link 6 165,768,569 165,772,763 RGD:9068941
G CCDC24 coiled-coil domain containing 24 JBrowse link 6 167,301,560 167,305,471 RGD:9068941
G CCDC30 coiled-coil domain containing 30 JBrowse link 6 168,765,537 168,858,417 RGD:9068941
G CDC20 cell division cycle 20 JBrowse link 6 167,886,266 167,890,587 RGD:9068941
G CDCA8 cell division cycle associated 8 JBrowse link 6 93,750,694 93,764,845 RGD:9068941
G CITED4 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 JBrowse link 6 170,324,787 170,326,140 RGD:9068941
G CLDN19 claudin 19 JBrowse link 6 168,695,246 168,699,683 RGD:9068941
G CLSPN claspin JBrowse link 6 91,906,325 91,968,070 RGD:9068941
G COL8A2 collagen type VIII alpha 2 chain JBrowse link 6 92,246,047 92,272,046 RGD:9068941
G COL9A2 collagen type IX alpha 2 chain JBrowse link 6 96,065,282 96,081,547 RGD:9068941
G CSF3R colony stimulating factor 3 receptor JBrowse link 6 92,550,159 92,565,798 RGD:9068941
G CSMD2 CUB and Sushi multiple domains 2 JBrowse link 6 89,778,338 90,424,979 RGD:9068941
G CTPS1 CTP synthase 1 JBrowse link 6 170,201,749 170,233,105 RGD:9068941
G DLGAP3 DLG associated protein 3 JBrowse link 6 91,120,406 91,184,146 RGD:9068941
G DMAP1 DNA methyltransferase 1 associated protein 1 JBrowse link 6 167,083,053 167,091,654 RGD:9068941
G DNALI1 dynein axonemal light intermediate chain 1 JBrowse link 6 93,612,263 93,621,486 RGD:9068941
G DPH2 diphthamide biosynthesis 2 JBrowse link 6 167,322,197 167,327,760 RGD:9068941
G EBNA1BP2 EBNA1 binding protein 2 JBrowse link 6 168,049,486 168,057,761 RGD:9068941
G EDN2 endothelin 2 JBrowse link 6 169,751,956 169,758,011 RGD:9068941
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma JBrowse link 6 166,353,918 166,487,581 RGD:9068941
G ELOVL1 ELOVL fatty acid elongase 1 JBrowse link 6 167,881,357 167,886,125 RGD:9068941
G EPHA10 EPH receptor A10 JBrowse link 6 93,764,732 93,804,069 RGD:9068941
G ERI3 ERI1 exoribonuclease family member 3 JBrowse link 6 166,957,241 167,082,631 RGD:9068941
G ERMAP erythroblast membrane associated protein JBrowse link 6 168,596,522 168,643,437 RGD:9068941
G EVA1B eva-1 homolog B JBrowse link 6 92,430,468 92,432,164 RGD:9068941
G EXO5 exonuclease 5 JBrowse link 6 170,651,217 170,657,125 RGD:9068941
G FAM183A family with sequence similarity 183 member A JBrowse link 6 168,062,511 168,072,900 RGD:9068941
G FHL3 four and a half LIM domains 3 JBrowse link 6 93,980,637 93,988,568 RGD:9068941
G FNDC5 fibronectin type III domain containing 5 JBrowse link 6 89,163,363 89,171,871 RGD:9068941
G FOXJ3 forkhead box J3 JBrowse link 6 168,994,432 169,135,038 RGD:9068941
G FOXO6 forkhead box O6 JBrowse link 6 169,858,711 169,880,005 RGD:9068941
G GJA4 gap junction protein alpha 4 JBrowse link 6 91,045,430 91,048,161 RGD:9068941
G GJA9 gap junction protein alpha 9 JBrowse link 6 94,815,105 94,817,183 RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 6 91,031,378 91,037,548 RGD:9068941
G GJB4 gap junction protein beta 4 JBrowse link 6 91,004,794 91,008,231 RGD:9068941
G GJB5 gap junction protein beta 5 JBrowse link 6 90,999,514 91,003,301 RGD:9068941
G GNL2 G protein nucleolar 2 JBrowse link 6 93,621,443 93,645,980 RGD:9068941
G GPBP1L1 GC-rich promoter binding protein 1 like 1 JBrowse link 6 165,708,964 165,762,392 RGD:9068941
G GRIK3 glutamate ionotropic receptor kainate type subunit 3 JBrowse link 6 92,880,297 93,128,048 RGD:9068941
G GUCA2A guanylate cyclase activator 2A JBrowse link 6 169,146,336 169,148,284 RGD:9068941
G GUCA2B guanylate cyclase activator 2B JBrowse link 6 169,152,172 169,154,557 RGD:9068941
G HECTD3 HECT domain E3 ubiquitin protein ligase 3 JBrowse link 6 166,333,284 166,341,769 RGD:9068941
G HEYL hes related family bHLH transcription factor with YRPW motif like JBrowse link 6 95,442,655 95,459,597 RGD:9068941
G HIVEP3 HIVEP zinc finger 3 JBrowse link 6 169,599,427 169,727,013 RGD:9068941
G HMGB4 high mobility group box 4 JBrowse link 6 90,133,911 90,136,413 RGD:9068941
G HPCA hippocalcin JBrowse link 6 89,187,544 89,197,049 RGD:9068941
G HPCAL4 hippocalcin like 4 JBrowse link 6 95,502,679 95,515,892 RGD:9068941
G HPDL 4-hydroxyphenylpyruvate dioxygenase like JBrowse link 6 166,012,590 166,015,051 RGD:9068941
G HYI hydroxypyruvate isomerase (putative) JBrowse link 6 167,809,063 167,811,588 RGD:9068941
G INPP5B inositol polyphosphate-5-phosphatase B JBrowse link 6 93,885,471 93,944,398 RGD:9068941
G IPO13 importin 13 JBrowse link 6 167,327,587 167,347,805 RGD:9068941
G IPP intracisternal A particle-promoted polypeptide JBrowse link 6 165,671,053 165,702,078 RGD:9068941
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 6 170,346,135 170,401,534 RGD:9068941
G KDM4A lysine demethylase 4A JBrowse link 6 167,597,954 167,642,381 RGD:9068941
G KIAA0319L KIAA0319 like JBrowse link 6 91,630,664 91,747,790 RGD:9068941
G KIAA0754 KIAA0754 ortholog JBrowse link 6 95,248,150 95,252,516 RGD:9068941
G KIF2C kinesin family member 2C JBrowse link 6 166,556,765 166,577,904 RGD:9068941
G KLF17 Kruppel like factor 17 JBrowse link 6 167,176,834 167,188,418 RGD:9068941
G LOC100511937 phosphatidylinositol 3-kinase regulatory subunit gamma JBrowse link 6 165,268,260 165,402,668 RGD:9068941
G LOC100519023 small vasohibin-binding protein JBrowse link 4 107,654,578 107,655,087 RGD:9068941
G LOC102162296 succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial JBrowse link 6 95,350,075 95,351,950 RGD:9068941
G LSM10 LSM10, U7 small nuclear RNA associated JBrowse link 6 92,489,921 92,496,886 RGD:9068941
G MACF1 microtubule actin crosslinking factor 1 JBrowse link 6 94,960,385 95,318,126 RGD:9068941
G MANEAL mannosidase endo-alpha like JBrowse link 6 93,821,638 93,832,122 RGD:9068941
G MAP7D1 MAP7 domain containing 1 JBrowse link 6 92,297,992 92,322,694 RGD:9068941
G MAST2 microtubule associated serine/threonine kinase 2 JBrowse link 6 165,406,876 165,620,029 RGD:9068941
G MEAF6 MYST/Esa1 associated factor 6 JBrowse link 6 93,559,259 93,589,030 RGD:9068941
G MED8 mediator complex subunit 8 JBrowse link 6 167,861,349 167,868,560 RGD:9068941
G MFSD2A major facilitator superfamily domain containing 2A JBrowse link 6 95,738,961 95,753,245 RGD:9068941
G MIR30C-1 microRNA mir-30c-1 JBrowse link 6 170,426,781 170,426,860 RGD:9068941
G MMACHC metabolism of cobalamin associated C JBrowse link 6 165,860,888 165,865,674 RGD:9068941
G MPL MPL proto-oncogene, thrombopoietin receptor JBrowse link 6 167,896,191 167,908,988 RGD:9068941
G MRPS15 mitochondrial ribosomal protein S15 JBrowse link 6 92,541,506 92,547,839 RGD:9068941
G MTF1 metal regulatory transcription factor 1 JBrowse link 6 93,837,195 93,884,427 RGD:9068941
G MUTYH mutY DNA glycosylase JBrowse link 6 166,002,853 166,012,191 RGD:9068941
G MYCBP MYC binding protein JBrowse link 6 94,805,649 94,814,443 RGD:9068941
G MYCL MYCL proto-oncogene, bHLH transcription factor JBrowse link 6 95,696,086 95,702,627 RGD:9068941
G NASP nuclear autoantigenic sperm protein JBrowse link 6 165,773,964 165,804,978 RGD:9068941
G NCDN neurochondrin JBrowse link 6 91,747,550 91,756,812 RGD:9068941
G NDUFS5 NADH:ubiquinone oxidoreductase subunit S5 JBrowse link 6 94,913,406 94,919,458 RGD:9068941
G NFYC nuclear transcription factor Y subunit gamma JBrowse link 6 170,413,631 170,486,012 RGD:9068941
G NT5C1A 5'-nucleotidase, cytosolic IA JBrowse link 6 95,473,259 95,497,645 RGD:9068941
G OSCP1 organic solute carrier partner 1 JBrowse link 6 92,501,124 92,537,526 RGD:9068941
G P3H1 prolyl 3-hydroxylase 1 JBrowse link 6 168,668,275 168,687,832 RGD:9068941
G PABPC4 poly(A) binding protein cytoplasmic 4 JBrowse link 6 95,382,295 95,399,452 RGD:9068941
G PHC2 polyhomeotic homolog 2 JBrowse link 6 89,574,030 89,685,275 RGD:9068941
G PLK3 polo like kinase 3 JBrowse link 6 166,528,760 166,533,734 RGD:9068941
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 6 165,212,828 165,222,412 RGD:9068941
G POU3F1 POU class 3 homeobox 1 JBrowse link 6 94,025,133 94,028,053 RGD:9068941
G PPCS phosphopantothenoylcysteine synthetase JBrowse link 6 168,833,945 168,876,831 RGD:9068941
G PPIE peptidylprolyl isomerase E JBrowse link 6 95,548,582 95,566,470 RGD:9068941
G PPIH peptidylprolyl isomerase H JBrowse link 6 168,741,999 168,760,350 RGD:9068941
G PPT1 palmitoyl-protein thioesterase 1 JBrowse link 6 95,840,906 95,860,858 RGD:9068941
G PRDX1 peroxiredoxin 1 JBrowse link 6 165,847,390 165,859,918 RGD:9068941
G PSMB2 proteasome 20S subunit beta 2 JBrowse link 6 91,792,055 91,829,942 RGD:9068941
G PTCH2 patched 2 JBrowse link 6 166,491,649 166,513,137 RGD:9068941
G PTPRF protein tyrosine phosphatase receptor type F JBrowse link 6 167,656,674 167,743,750 RGD:9068941
G RHBDL2 rhomboid like 2 JBrowse link 6 94,822,017 94,864,106 RGD:9068941
G RIMKLA ribosomal modification protein rimK like family member A JBrowse link 6 168,909,477 168,949,921 RGD:9068941
G RIMS3 regulating synaptic membrane exocytosis 3 JBrowse link 6 170,506,392 170,546,939 RGD:9068941
G RLF RLF zinc finger JBrowse link 6 95,900,074 95,994,045 RGD:9068941
G RNF19B ring finger protein 19B JBrowse link 6 89,220,156 89,250,358 RGD:9068941
G RNF220 ring finger protein 220 JBrowse link 6 166,666,140 166,910,728 RGD:9068941
G RPS8 ribosomal protein S8 JBrowse link 6 166,550,574 166,553,289 RGD:9068941
G RRAGC Ras related GTP binding C JBrowse link 6 94,785,906 94,803,017 RGD:9068941
G RSPO1 R-spondin 1 JBrowse link 6 93,664,839 93,690,328 RGD:9068941
G S100PBP S100P binding protein JBrowse link 6 89,119,003 89,160,050 RGD:9068941
G SCMH1 Scm polycomb group protein homolog 1 JBrowse link 6 169,999,763 170,189,357 RGD:9068941
G SF3A3 splicing factor 3a subunit 3 JBrowse link 6 93,951,599 93,976,324 RGD:9068941
G SFPQ splicing factor proline and glutamine rich JBrowse link 6 91,391,552 91,408,236 RGD:9068941
G SH3D21 SH3 domain containing 21 JBrowse link 6 92,413,271 92,429,698 RGD:9068941
G SLC2A1 solute carrier family 2 member 1 JBrowse link 6 168,535,398 168,561,170 RGD:9068941
G SLC6A9 solute carrier family 6 member 9 JBrowse link 6 167,267,193 167,301,598 RGD:9068941
G SLFNL1 schlafen like 1 JBrowse link 6 170,189,882 170,199,128 RGD:9068941
G SMAP2 small ArfGAP2 JBrowse link 6 170,715,106 170,763,818 RGD:9068941
G SMIM12 small integral membrane protein 12 JBrowse link 6 91,109,044 91,113,686 RGD:9068941
G SNIP1 Smad nuclear interacting protein 1 JBrowse link 6 93,597,050 93,612,169 RGD:9068941
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 6 167,363,348 167,596,892 RGD:9068941
G STK40 serine/threonine kinase 40 JBrowse link 6 92,441,231 92,484,363 RGD:9068941
G SZT2 SZT2 subunit of KICSTOR complex JBrowse link 6 167,811,589 167,861,321 RGD:9068941
G TCTEX1D4 Tctex1 domain containing 4 JBrowse link 6 166,527,350 166,528,855 RGD:9068941
G TEKT2 tektin 2 JBrowse link 6 92,233,479 92,238,125 RGD:9068941
G TESK2 testis associated actin remodelling kinase 2 JBrowse link 6 165,874,176 166,000,002 RGD:9068941
G TFAP2E transcription factor AP-2 epsilon JBrowse link 6 91,764,742 91,785,522 RGD:9068941
G THRAP3 thyroid hormone receptor associated protein 3 JBrowse link 6 92,350,021 92,412,335 RGD:9068941
G TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 JBrowse link 6 167,919,662 167,947,253 RGD:9068941
G TMCO2 transmembrane and coiled-coil domains 2 JBrowse link 6 96,000,133 96,004,069 RGD:9068941
G TMEM125 transmembrane protein 125 JBrowse link 6 167,973,088 167,978,331 RGD:9068941
G TMEM35B transmembrane protein 35B JBrowse link 6 91,234,816 91,238,005 RGD:9068941
G TMEM53 transmembrane protein 53 JBrowse link 6 166,645,103 166,664,382 RGD:9068941
G TMEM54 transmembrane protein 54 JBrowse link 6 89,196,995 89,203,954 RGD:9068941
G TMEM69 transmembrane protein 69 JBrowse link 6 165,704,599 165,708,983 RGD:9068941
G TOE1 target of EGR1, exonuclease JBrowse link 6 165,999,920 166,003,570 RGD:9068941
G TRAPPC3 trafficking protein particle complex 3 JBrowse link 6 92,283,146 92,293,712 RGD:9068941
G TRIM62 tripartite motif containing 62 JBrowse link 6 89,406,470 89,442,794 RGD:9068941
G TRIT1 tRNA isopentenyltransferase 1 JBrowse link 6 95,622,056 95,683,817 RGD:9068941
G TSPAN1 tetraspanin 1 JBrowse link 6 165,224,619 165,229,516 RGD:9068941
G UROD uroporphyrinogen decarboxylase JBrowse link 6 166,327,243 166,330,558 RGD:9068941
G UTP11 UTP11 small subunit processome component JBrowse link 6 93,993,686 94,006,889 RGD:9068941
G YARS1 tyrosyl-tRNA synthetase 1 JBrowse link 6 89,088,122 89,118,837 RGD:7240710
G YBX1 Y-box binding protein 1 JBrowse link 6 168,716,782 168,736,475 RGD:9068941
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing JBrowse link 6 93,829,320 93,833,776 RGD:9068941
G ZC3H12A zinc finger CCCH-type containing 12A JBrowse link 6 93,541,334 93,551,200 RGD:9068941
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 6 96,008,307 96,057,131 RGD:9068941
G ZMYM1 zinc finger MYM-type containing 1 JBrowse link 6 91,312,154 91,346,276 RGD:9068941
G ZMYM4 zinc finger MYM-type containing 4 JBrowse link 6 91,453,647 91,623,787 RGD:9068941
G ZMYM6 zinc finger MYM-type containing 6 JBrowse link 6 91,238,923 91,293,534 RGD:9068941
G ZMYND12 zinc finger MYND-type containing 12 JBrowse link 6 168,877,247 168,902,705 RGD:9068941
G ZNF362 zinc finger protein 362 JBrowse link 6 89,513,826 89,555,149 RGD:9068941
G ZNF643 zinc finger protein 643 JBrowse link 6 170,660,307 170,701,755 RGD:9068941
G ZNF684 zinc finger protein 684 JBrowse link 6 170,615,455 170,637,495 RGD:9068941
G ZNF691 zinc finger protein 691 JBrowse link 6 168,540,461 168,596,451 RGD:9068941
G ZSCAN20 zinc finger and SCAN domain containing 20 JBrowse link 6 89,732,566 89,760,828 RGD:9068941
G ZSWIM5 zinc finger SWIM-type containing 5 JBrowse link 6 166,138,127 166,326,002 RGD:9068941
Charcot-Marie-Tooth disease dominant intermediate D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 4 89,174,107 89,179,556 RGD:7240710
Charcot-Marie-Tooth disease dominant intermediate E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G INF2 inverted formin 2 RGD:7240710
Charcot-Marie-Tooth disease dominant intermediate F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GNB4 G protein subunit beta 4 JBrowse link 13 117,442,594 117,513,387 RGD:7240710
Charcot-Marie-Tooth disease dominant intermediate G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEFL neurofilament light JBrowse link 14 8,991,321 8,996,900 RGD:7240710
Charcot-Marie-Tooth disease intermediate type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCN1 chloride voltage-gated channel 1 JBrowse link 18 6,902,540 6,941,530 RGD:9068941
G DNM2 dynamin 2 JBrowse link 2 69,474,011 69,574,427 RGD:9068941
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 4 61,577,413 61,596,106 RGD:9068941
G IGHMBP2 immunoglobulin mu DNA binding protein 2 JBrowse link 2 4,169,510 4,194,699 RGD:9068941
G KARS1 lysyl-tRNA synthetase 1 JBrowse link 6 12,057,475 12,073,749 RGD:9068941
G MPZ myelin protein zero JBrowse link 4 89,174,107 89,179,556 RGD:9068941
G SDHC succinate dehydrogenase complex subunit C JBrowse link 4 89,135,410 89,169,164 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 2 150,183,480 150,247,747 RGD:9068941
G YARS1 tyrosyl-tRNA synthetase 1 JBrowse link 6 89,088,122 89,118,837 RGD:9068941
Charcot-Marie-Tooth disease recessive intermediate A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 4 61,577,413 61,596,106 RGD:7240710
Charcot-Marie-Tooth disease recessive intermediate B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KARS1 lysyl-tRNA synthetase 1 JBrowse link 6 12,057,475 12,073,749 RGD:7240710
Charcot-Marie-Tooth disease recessive intermediate C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 6 67,316,818 67,373,787 RGD:7240710
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 14 40,408,600 40,410,810 RGD:7240710
Charcot-Marie-Tooth disease type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS1 alanyl-tRNA synthetase 1 JBrowse link 6 13,298,336 13,321,423 RGD:9068941
G CDRT4 CMT1A duplicated region transcript 4 JBrowse link 12 58,816,336 58,881,611 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 RGD:9068941
G EGR2 early growth response 2 JBrowse link 14 66,280,665 66,291,308 RGD:9068941
G FIG4 FIG4 phosphoinositide 5-phosphatase JBrowse link 1 75,694,151 75,847,021 RGD:9068941
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 18 42,311,711 42,352,201 RGD:9068941
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 4 61,577,413 61,596,106 RGD:9068941
G HS3ST3B1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 JBrowse link 12 58,126,477 58,168,407 RGD:9068941
G IGHMBP2 immunoglobulin mu DNA binding protein 2 JBrowse link 2 4,169,510 4,194,699 RGD:9068941
G KIF1B kinesin family member 1B JBrowse link 6 70,495,143 70,663,464 RGD:9068941
G LITAF lipopolysaccharide induced TNF factor JBrowse link 3 31,482,605 31,576,211 RGD:9068941
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 1 267,964,875 268,008,833 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 6 72,026,512 72,056,439 RGD:9068941
G MORC2 MORC family CW-type zinc finger 2 JBrowse link 14 47,755,264 47,800,432 RGD:9068941
G MPZ myelin protein zero JBrowse link 4 89,174,107 89,179,556 RGD:9068941
G NEFL neurofilament light JBrowse link 14 8,991,321 8,996,900 RGD:9068941
G PMP22 peripheral myelin protein 22 JBrowse link 12 58,679,773 58,734,195 RGD:9068941
G PRX periaxin JBrowse link 6 48,675,230 48,691,760 RGD:9068941
G SDHC succinate dehydrogenase complex subunit C JBrowse link 4 89,135,410 89,169,164 RGD:9068941
G SEPTIN9 septin 9 JBrowse link 12 4,254,771 4,347,526 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 2 150,183,480 150,247,747 RGD:9068941
G TEKT3 tektin 3 JBrowse link 12 58,734,289 58,773,400 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 14 41,125,819 41,169,582 RGD:9068941
Charcot-Marie-Tooth disease type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDRT1 CMT1A duplicated region transcript 1 JBrowse link 12 58,896,184 58,924,524 RGD:9068941
G CDRT4 CMT1A duplicated region transcript 4 JBrowse link 12 58,816,336 58,881,611 RGD:9068941
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 12 58,011,831 58,110,575 RGD:9068941
G HS3ST3B1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 JBrowse link 12 58,126,477 58,168,407 RGD:9068941
G PMP22 peripheral myelin protein 22 JBrowse link 12 58,679,773 58,734,195 RGD:7240710
G TEKT3 tektin 3 JBrowse link 12 58,734,289 58,773,400 RGD:9068941
Charcot-Marie-Tooth disease type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 4 89,174,107 89,179,556 RGD:7240710
G SDHC succinate dehydrogenase complex subunit C JBrowse link 4 89,135,410 89,169,164 RGD:9068941
Charcot-Marie-Tooth disease type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LITAF lipopolysaccharide induced TNF factor JBrowse link 3 31,482,605 31,576,211 RGD:7240710
G NEFL neurofilament light JBrowse link 14 8,991,321 8,996,900 RGD:9068941
Charcot-Marie-Tooth disease type 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EGR2 early growth response 2 JBrowse link 14 66,280,665 66,291,308 RGD:7240710
Charcot-Marie-Tooth disease type 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PMP22 peripheral myelin protein 22 JBrowse link 12 58,679,773 58,734,195 RGD:7240710
Charcot-Marie-Tooth disease type 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEFL neurofilament light JBrowse link 14 8,991,321 8,996,900 RGD:7240710
Charcot-Marie-Tooth disease type 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PMP2 peripheral myelin protein 2 JBrowse link 4 55,116,259 55,141,619 RGD:7240710
Charcot-Marie-Tooth disease type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS1 alanyl-tRNA synthetase 1 JBrowse link 6 13,298,336 13,321,423 RGD:9068941
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 JBrowse link 4 94,026,391 94,082,206 RGD:9068941
G BGLAP bone gamma-carboxyglutamate protein JBrowse link 4 93,807,703 93,808,806 RGD:9068941
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 2 9,052,676 9,064,890 RGD:9068941
G COG4 component of oligomeric golgi complex 4 JBrowse link 6 13,492,876 13,524,442 RGD:9068941
G COL12A1 collagen type XII alpha 1 chain JBrowse link 1 90,744,409 90,875,127 RGD:9068941
G DDX19B DEAD-box helicase 19B JBrowse link 6 13,328,241 13,358,139 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 RGD:9068941
G FCSK fucose kinase JBrowse link 6 13,471,771 13,492,581 RGD:9068941
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 18 42,311,711 42,352,201 RGD:9068941
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 3 10,038,074 10,039,441 RGD:9068941
G IL34 interleukin 34 JBrowse link 6 13,588,748 13,679,864 RGD:9068941
G KHDC4 KH domain containing 4, pre-mRNA splicing factor JBrowse link 4 94,098,211 94,116,662 RGD:9068941
G KIF1B kinesin family member 1B JBrowse link 6 70,495,143 70,663,464 RGD:9068941
G LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 JBrowse link 4 93,972,112 93,975,561 RGD:9068941
G LMNA lamin A/C JBrowse link 4 93,899,019 93,927,255 RGD:9068941
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 1 267,964,875 268,008,833 RGD:9068941
G MED25 mediator complex subunit 25 JBrowse link 6 54,834,303 54,849,539 RGD:9068941
G MEX3A mex-3 RNA binding family member A JBrowse link 4 93,949,876 93,957,797 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 6 72,026,512 72,056,439 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 6 71,987,938 72,019,712 RGD:9068941
G PMF1 polyamine modulated factor 1 JBrowse link 4 93,810,863 93,836,786 RGD:9068941
G RAB25 RAB25, member RAS oncogene family JBrowse link 4 93,961,136 93,970,742 RGD:9068941
G RAB7A RAB7A, member RAS oncogene family JBrowse link 13 71,777,422 71,886,758 RGD:9068941
G RIT1 Ras like without CAAX 1 JBrowse link 4 94,117,721 94,127,882 RGD:9068941
G RXFP4 relaxin family peptide/INSL5 receptor 4 JBrowse link 4 94,083,974 94,085,095 RGD:9068941
G SEMA4A semaphorin 4A JBrowse link 4 93,865,054 93,892,995 RGD:9068941
G SF3B3 splicing factor 3b subunit 3 JBrowse link 6 13,524,519 13,578,681 RGD:9068941
G SLC25A44 solute carrier family 25 member 44 JBrowse link 4 93,837,004 93,857,154 RGD:9068941
G SSR2 signal sequence receptor subunit 2 JBrowse link 4 94,010,724 94,021,964 RGD:9068941
G ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 JBrowse link 6 13,402,336 13,456,495 RGD:9068941
G TFG trafficking from ER to golgi regulator JBrowse link 13 158,291,090 158,326,902 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 14 41,125,819 41,169,582 RGD:9068941
G UBQLN4 ubiquilin 4 JBrowse link 4 93,976,386 93,994,830 RGD:9068941
Charcot-Marie-Tooth disease type 2A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIF1B kinesin family member 1B JBrowse link 6 70,495,143 70,663,464 RGD:7240710
Charcot-Marie-Tooth Disease Type 2A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 6 72,026,512 72,056,439 RGD:9068941
Charcot-Marie-Tooth disease type 2A2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 6 72,026,512 72,056,439 RGD:7240710
Charcot-Marie-Tooth disease type 2A2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 6 72,026,512 72,056,439 RGD:7240710
Charcot-Marie-Tooth disease type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAD9 acyl-CoA dehydrogenase family member 9 JBrowse link 13 71,374,926 71,422,431 RGD:9068941
G CFAP92 cilia and flagella associated protein 92 (putative) JBrowse link 13 71,420,886 71,493,284 RGD:9068941
G RAB7A RAB7A, member RAS oncogene family JBrowse link 13 71,777,422 71,886,758 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 4 93,899,019 93,927,255 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 6 54,834,303 54,849,539 RGD:9068941
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 6 54,870,359 54,880,814 RGD:7240710
Charcot-Marie-Tooth disease type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 18 42,311,711 42,352,201 RGD:7240710
Charcot-Marie-Tooth disease type 2DD term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 4 104,353,506 104,384,321 RGD:7240710
Charcot-Marie-Tooth disease type 2E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEFL neurofilament light JBrowse link 14 8,991,321 8,996,900 RGD:7240710
G PMP22 peripheral myelin protein 22 JBrowse link 12 58,679,773 58,734,195 RGD:9068941
Charcot-Marie-Tooth disease type 2EE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPV17 mitochondrial inner membrane protein MPV17 JBrowse link 3 111,823,075 111,833,929 RGD:7240710
Charcot-Marie-Tooth disease type 2I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 4 89,174,107 89,179,556 RGD:7240710
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 4 89,174,107 89,179,556 RGD:7240710
Charcot-Marie-Tooth disease type 2R term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRIM2 tripartite motif containing 2 JBrowse link 8 75,770,344 75,939,812 RGD:7240710
Charcot-Marie-Tooth disease type 2Y term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VCP valosin containing protein JBrowse link 1 235,854,532 235,869,712 RGD:7240710
Charcot-Marie-Tooth disease type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EGR2 early growth response 2 JBrowse link 14 66,280,665 66,291,308 RGD:7240710
G GJB1 gap junction protein beta 1 JBrowse link X 57,241,990 57,249,496 RGD:9068941
G MPZ myelin protein zero JBrowse link 4 89,174,107 89,179,556 RGD:7240710
G PMP22 peripheral myelin protein 22 JBrowse link 12 58,679,773 58,734,195 RGD:7240710
G PRX periaxin JBrowse link 6 48,675,230 48,691,760 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 4 8,078,163 8,110,906 RGD:9068941
G DNM1L dynamin 1 like JBrowse link 5 41,571,054 41,636,058 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 RGD:9068941
G FGD4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 5 41,683,265 41,879,197 RGD:9068941
G FIG4 FIG4 phosphoinositide 5-phosphatase JBrowse link 1 75,694,151 75,847,021 RGD:9068941
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 4 61,577,413 61,596,106 RGD:9068941
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 3 10,038,074 10,039,441 RGD:9068941
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 4 8,669,969 8,978,656 RGD:9068941
G KIF1B kinesin family member 1B JBrowse link 6 70,495,143 70,663,464 RGD:9068941
G LRRC6 leucine rich repeat containing 6 JBrowse link 4 8,531,612 8,605,904 RGD:9068941
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 1 267,964,875 268,008,833 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 6 72,026,512 72,056,439 RGD:9068941
G MORC2 MORC family CW-type zinc finger 2 JBrowse link 14 47,755,264 47,800,432 RGD:9068941
G MTMR2 myotubularin related protein 2 JBrowse link 9 27,864,335 27,974,448 RGD:9068941
G NDRG1 N-myc downstream regulated 1 JBrowse link 4 8,014,445 8,069,335 RGD:9068941
G PHF20L1 PHD finger protein 20 like 1 JBrowse link 4 8,394,874 8,468,309 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 6 71,987,938 72,019,712 RGD:9068941
G PRX periaxin JBrowse link 6 48,675,230 48,691,760 RGD:9068941
G SBF1 SET binding factor 1 JBrowse link 5 260,779 284,512 RGD:9068941
G SBF2 SET binding factor 2 JBrowse link 2 49,242,739 49,691,807 RGD:9068941
G SEPTIN9 septin 9 JBrowse link 12 4,254,771 4,347,526 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 2 150,183,480 150,247,747 RGD:9068941
G SLA Src like adaptor JBrowse link 4 8,166,829 8,247,396 RGD:9068941
G TG thyroglobulin JBrowse link 4 8,158,395 8,382,435 RGD:9068941
G TMEM71 transmembrane protein 71 JBrowse link 4 8,467,572 8,516,316 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 14 41,125,819 41,169,582 RGD:9068941
Charcot-Marie-Tooth disease type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 4 61,577,413 61,596,106 RGD:7240710
G JPH1 junctophilin 1 JBrowse link 4 61,628,304 61,716,550 RGD:9068941
G LY96 lymphocyte antigen 96 JBrowse link 4 61,919,806 61,950,712 RGD:9068941
G TMEM70 transmembrane protein 70 JBrowse link 4 61,958,605 61,966,041 RGD:9068941
Charcot-Marie-Tooth Disease Type 4A, Axonal Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 4 61,577,413 61,596,106 RGD:7240710
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 1 267,964,875 268,008,833 RGD:9068941
Charcot-Marie-Tooth disease type 4B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTMR2 myotubularin related protein 2 JBrowse link 9 27,864,335 27,974,448 RGD:7240710
Charcot-Marie-Tooth disease type 4B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SBF2 SET binding factor 2 JBrowse link 2 49,242,739 49,691,807 RGD:7240710
Charcot-Marie-Tooth disease type 4B3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SBF1 SET binding factor 1 JBrowse link 5 260,779 284,512 RGD:7240710
Charcot-Marie-Tooth disease type 4C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 2 150,183,480 150,247,747 RGD:7240710
Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDRG1 N-myc downstream regulated 1 JBrowse link 4 8,014,445 8,069,335 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 14 66,280,665 66,291,308 RGD:7240710
G MPZ myelin protein zero JBrowse link 4 89,174,107 89,179,556 RGD:9068941
G SDHC succinate dehydrogenase complex subunit C JBrowse link 4 89,135,410 89,169,164 RGD:9068941
Charcot-Marie-Tooth disease type 4F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRX periaxin JBrowse link 6 48,675,230 48,691,760 RGD:7240710
Charcot-Marie-Tooth disease type 4G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HK1 hexokinase 1 JBrowse link 14 72,383,328 72,460,927 RGD:7240710
Charcot-Marie-Tooth disease type 4H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGD4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 5 41,683,265 41,879,197 RGD:7240710
Charcot-Marie-Tooth disease type 4J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FIG4 FIG4 phosphoinositide 5-phosphatase JBrowse link 1 75,694,151 75,847,021 RGD:7240710
Charcot-Marie-Tooth disease type 4K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SURF1 SURF1 cytochrome c oxidase assembly factor JBrowse link 1 272,965,637 272,970,516 RGD:7240710
Charcot-Marie-Tooth disease type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 RGD:9068941
Charcot-Marie-Tooth disease type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 6 72,026,512 72,056,439 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 6 71,987,938 72,019,712 RGD:9068941
Charcot-Marie-Tooth Disease Type 6A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 6 72,026,512 72,056,439 RGD:7240710
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 6 71,987,938 72,019,712 RGD:9068941
Charcot-Marie-Tooth Disease Type 6B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC25A46 solute carrier family 25 member 46 JBrowse link 2 115,529,662 115,555,441 RGD:7240710
Charcot-Marie-Tooth Disease Type 6C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDXK pyridoxal kinase JBrowse link 13 206,676,905 206,699,047 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 106,676,596 106,708,290 RGD:9068941
G GJB1 gap junction protein beta 1 JBrowse link X 57,241,990 57,249,496 RGD:9068941
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 88,074,861 88,101,925 RGD:9068941
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 106,708,402 106,723,803 RGD:9068941
Charcot-Marie-Tooth disease X-linked dominant 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB1 gap junction protein beta 1 JBrowse link X 57,241,990 57,249,496 RGD:7240710
Charcot-Marie-Tooth disease X-linked dominant 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDK3 pyruvate dehydrogenase kinase 3 JBrowse link X 20,486,205 20,598,492 RGD:7240710
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIFM1 apoptosis inducing factor mitochondria associated 1 JBrowse link X 106,676,596 106,708,290 RGD:7240710
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 106,708,402 106,723,803 RGD:9068941
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 88,074,861 88,101,925 RGD:7240710
Charcot-Marie-Tooth disease, axonal type 2W term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HARS1 histidyl-tRNA synthetase 1 JBrowse link 2 142,387,563 142,401,232 RGD:7240710
Charcot-Marie-Tooth Disease, Dominant Intermediate 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNM2 dynamin 2 JBrowse link 2 69,474,011 69,574,427 RGD:9068941
Charcot-Marie-Tooth Disease, Dominant Intermediate 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 4 89,174,107 89,179,556 RGD:9068941
Charcot-Marie-Tooth Disease, Type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 6 72,026,512 72,056,439 RGD:9068941
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SACS sacsin molecular chaperone JBrowse link 11 2,382,406 2,455,756 RGD:7240710
G SGCG sarcoglycan gamma JBrowse link 11 2,310,280 2,380,054 RGD:9068941
childhood spinal muscular atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 RGD:9068941
G SMN1 survival of motor neuron 1, telomeric JBrowse link 16 47,738,776 47,777,381 RGD:9068941
choreaacanthocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VPS13A vacuolar protein sorting 13 homolog A JBrowse link 1 230,069,339 230,331,343 RGD:7240710
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 14,858,826 15,096,969 RGD:9068941
G HIVEP2 HIVEP zinc finger 2 JBrowse link 1 22,240,681 22,436,945 RGD:9068941
G RS1 retinoschisin 1 JBrowse link X 15,080,972 15,099,426 RGD:9068941
G SLC9A6 solute carrier family 9 member A6 JBrowse link X 111,176,461 111,233,108 RGD:7240710
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RNF135 ring finger protein 135 JBrowse link 12 42,793,755 42,808,937 RGD:9068941
Chromosome Xp11.3 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RP2 RP2 activator of ARL3 GTPase JBrowse link X 41,488,866 41,534,810 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 123,906,130 123,921,935 RGD:7240710
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCX doublecortin JBrowse link X 91,317,671 91,644,572 RGD:7240710
G MNT MAX network transcriptional repressor JBrowse link 12 48,469,230 48,486,737 RGD:9068941
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 JBrowse link 12 48,567,329 48,735,836 RGD:9068941
Cockayne syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 6 51,783,537 51,808,898 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 6 51,734,318 51,757,508 RGD:9068941
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 15 25,189,644 25,224,381 RGD:9068941
G ERCC5 ERCC excision repair 5, endonuclease JBrowse link 11 71,141,823 71,168,326 RGD:9068941
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 14 89,998,125 90,075,911 RGD:9068941
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 16 39,704,602 39,770,330 RGD:9068941
G GHR growth hormone receptor JBrowse link 16 27,126,300 27,422,618 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 5 81,762,027 81,909,253 RGD:9068941
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 16 39,770,398 39,950,786 RGD:9068941
G XPA XPA, DNA damage recognition and repair factor JBrowse link 1 239,532,331 239,568,589 RGD:9068941
Cockayne Syndrome A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 16 39,704,602 39,770,330 RGD:7240710
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 16 39,770,398 39,950,786 RGD:9068941
Cockayne Syndrome B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 14 89,998,125 90,075,911 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 16,452,401 16,576,854 RGD:7240710
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 JBrowse link 11 65,230,145 65,299,084 RGD:7240710
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 JBrowse link 6 146,990,115 147,161,010 RGD:9068941
combined saposin deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDH23 cadherin related 23 JBrowse link 14 74,267,547 74,734,623 RGD:9068941
G PSAP prosaposin JBrowse link 14 74,734,185 74,820,645 RGD:7240710
congenital vertical talus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXD10 homeobox D10 JBrowse link 15 81,911,372 81,921,164 RGD:7240710
Copper-Overload Cirrhosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTA2 actin alpha 2, smooth muscle JBrowse link 14 100,868,145 100,886,732 RGD:9068941
G CASP3 caspase 3 JBrowse link 15 45,744,320 45,753,252 RGD:9068941
G COMMD1 copper metabolism domain containing 1 JBrowse link 3 79,770,315 79,913,969 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 9 98,437,771 98,513,573 RGD:9068941
G KRT19 keratin 19 JBrowse link 12 21,115,453 21,119,115 RGD:9068941
G KRT7 keratin 7 JBrowse link 5 17,553,192 17,570,582 RGD:9068941
G MET MET proto-oncogene, receptor tyrosine kinase JBrowse link 18 29,426,044 29,541,526 RGD:9068941
G MKI67 marker of proliferation Ki-67 JBrowse link 14 137,266,622 137,296,312 RGD:9068941
G SMAD2 SMAD family member 2 JBrowse link 1 97,415,360 97,511,388 RGD:9068941
G STAT3 signal transducer and activator of transcription 3 JBrowse link 12 20,407,316 20,471,091 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 6 49,332,169 49,348,642 RGD:9068941
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IGBP1 immunoglobulin binding protein 1 JBrowse link X 56,173,773 56,206,121 RGD:7240710
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FRMD4A FERM domain containing 4A JBrowse link 10 47,384,867 48,048,948 RGD:7240710
creatine transporter deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCD1 ATP binding cassette subfamily D member 1 JBrowse link X 124,485,076 124,501,742 RGD:9068941
G BCAP31 B cell receptor associated protein 31 JBrowse link X 124,456,999 124,484,923 RGD:9068941
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma JBrowse link X 124,528,643 124,537,570 RGD:9068941
G L1CAM L1 cell adhesion molecule JBrowse link X 124,595,649 124,618,292 RGD:9068941
G PDZD4 PDZ domain containing 4 JBrowse link X 124,543,845 124,567,477 RGD:9068941
G PLXNB3 plexin B3 JBrowse link X 124,507,953 124,522,780 RGD:9068941
G SLC6A8 solute carrier family 6 member 8 JBrowse link X 124,435,282 124,452,182 RGD:7240710
G SRPK3 SRSF protein kinase 3 JBrowse link X 124,524,102 124,528,607 RGD:9068941
G SSR4 signal sequence receptor subunit 4 JBrowse link X 124,537,545 124,541,635 RGD:9068941
Danon disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKAP14 A-kinase anchoring protein 14 JBrowse link X 98,234,469 98,255,396 RGD:9068941
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 JBrowse link X 98,514,286 98,535,154 RGD:9068941
G LAMP2 lysosomal associated membrane protein 2 JBrowse link X 98,586,718 98,623,939 RGD:7240710
G LOC102157657 uncharacterized LOC102157657 JBrowse link X 98,304,777 98,310,448 RGD:9068941
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 JBrowse link X 98,219,717 98,223,873 RGD:9068941
G NKAP NFKB activating protein JBrowse link X 98,233,504 98,276,839 RGD:9068941
G RNF113A ring finger protein 113A JBrowse link X 98,218,689 98,219,931 RGD:9068941
G TMEM255A transmembrane protein 255A JBrowse link X 98,412,286 98,464,683 RGD:9068941
G UPF3B UPF3B regulator of nonsense mediated mRNA decay JBrowse link X 98,184,646 98,206,135 RGD:9068941
G ZBTB33 zinc finger and BTB domain containing 33 JBrowse link X 98,370,137 98,413,686 RGD:9068941
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATN1 atrophin 1 JBrowse link 5 63,782,159 63,795,648 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 14 33,626,125 33,639,824 RGD:7240710
distal hereditary motor neuronopathy type 7A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC138 coiled-coil domain containing 138 JBrowse link 3 47,470,649 47,525,606 RGD:9068941
G EDAR ectodysplasin A receptor JBrowse link 3 47,396,303 47,466,234 RGD:9068941
G GCC2 GRIP and coiled-coil domain containing 2 JBrowse link 3 47,718,251 47,759,060 RGD:9068941
G LIMS1 LIM zinc finger domain containing 1 JBrowse link 3 47,607,737 47,704,921 RGD:9068941
G LOC100511376 E3 SUMO-protein ligase RanBP2 JBrowse link 3 47,531,362 47,601,328 RGD:9068941
G LOC100623441 sulfotransferase 1C4 JBrowse link 3 47,765,022 47,777,178 RGD:9068941
G LOC100623541 sulfotransferase 1C2 JBrowse link 3 47,807,830 47,824,199 RGD:9068941
G LOC100623656 sulfotransferase 1C1 JBrowse link 3 47,838,671 47,864,646 RGD:9068941
G SLC5A7 solute carrier family 5 member 7 JBrowse link 3 47,994,116 48,020,744 RGD:7240710
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCTN1 dynactin subunit 1 JBrowse link 3 68,642,562 68,673,605 RGD:7240710
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 RGD:9068941
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 18 42,311,711 42,352,201 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 6 72,026,512 72,056,439 RGD:9068941
G MPZ myelin protein zero JBrowse link 4 89,174,107 89,179,556 RGD:9068941
G NEFL neurofilament light JBrowse link 14 8,991,321 8,996,900 RGD:9068941
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 6 67,316,818 67,373,787 RGD:9068941
G SCN11A sodium voltage-gated channel alpha subunit 11 JBrowse link 13 23,602,378 23,692,281 RGD:9068941
G SETX senataxin JBrowse link 1 272,093,449 272,170,857 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 2 150,183,480 150,247,747 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 14 41,125,819 41,169,582 RGD:9068941
dominant optic atrophy plus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 13 130,624,771 130,718,345 RGD:7240710
early infantile epileptic encephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BEND2 BEN domain containing 2 JBrowse link X 14,635,795 14,703,934 RGD:9068941
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 14,858,826 15,096,969 RGD:7240710
RGD:9068941
G NHS NHS actin remodeling regulator JBrowse link X 13,854,950 14,209,085 RGD:9068941
G RAI2 retinoic acid induced 2 JBrowse link X 14,246,776 14,633,071 RGD:9068941
G RS1 retinoschisin 1 JBrowse link X 15,080,972 15,099,426 RGD:9068941
G SCML1 Scm polycomb group protein like 1 JBrowse link X 14,210,164 14,222,053 RGD:9068941
G SCML2 Scm polycomb group protein like 2 JBrowse link X 14,715,357 14,823,016 RGD:9068941
early infantile epileptic encephalopathy 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC25A12 solute carrier family 25 member 12 JBrowse link 15 77,895,935 78,021,930 RGD:7240710
episodic ataxia type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 JBrowse link 15 402,801 455,691 RGD:7240710
episodic ataxia type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC1A3 solute carrier family 1 member 3 JBrowse link 16 21,873,691 21,965,315 RGD:7240710
essential tremor 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HS1BP3 HCLS1 binding protein 3 JBrowse link 3 117,608,987 117,647,361 RGD:7240710
Familial Amyloid Polyneuropathies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APOA1 apolipoprotein A1 JBrowse link 9 44,216,481 44,218,360 RGD:9068941
G F10 coagulation factor X JBrowse link 11 78,521,760 78,538,256 RGD:9068941
G F2 coagulation factor II, thrombin JBrowse link 2 15,793,257 15,819,151 RGD:9068941
G MYBPC3 myosin binding protein C3 JBrowse link 2 15,247,679 15,269,714 RGD:9068941
G PKP2 plakophilin 2 JBrowse link 5 41,424,687 41,509,590 RGD:9068941
G TNNI3 troponin I3, cardiac type JBrowse link 6 59,366,828 59,377,490 RGD:9068941
G TTR transthyretin JBrowse link 6 115,496,338 115,503,974 RGD:9068941
familial encephalopathy with neuroserpin inclusion bodies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDCD10 programmed cell death 10 JBrowse link 13 106,517,408 106,558,959 RGD:9068941
G SERPINB7 serpin family B member 7 JBrowse link 1 157,953,872 157,999,242 RGD:9068941
G SERPINI1 serpin family I member 1 JBrowse link 13 106,559,326 106,636,930 RGD:7240710
familial hemiplegic migraine 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 2 65,491,784 65,871,068 RGD:7240710
FG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CASK calcium/calmodulin dependent serine protein kinase JBrowse link X 37,166,973 37,535,723 RGD:9068941
G FLNA filamin A JBrowse link X 124,889,934 124,915,000 RGD:9068941
G MED12 mediator complex subunit 12 JBrowse link X 57,150,884 57,174,367 RGD:9068941
FG Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB1 gap junction protein beta 1 JBrowse link X 57,241,990 57,249,496 RGD:9068941
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