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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 17 76,167,003 76,178,247 RGD:9068941
G FTL ferritin light chain JBrowse link 19 54,788,853 54,790,466 RGD:9068941
G NGB neuroglobin JBrowse link 14 77,020,274 77,025,983 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 19 51,073,322 51,130,555 RGD:7240710
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100974096 mitochondrial import inner membrane translocase subunit TIM14 JBrowse link 3 186,191,128 186,197,156 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 153,162,412 153,182,424 RGD:7240710
RGD:9068941
G ACSBG1 acyl-CoA synthetase bubblegum family member 1 JBrowse link 15 76,064,937 76,128,835 RGD:9068941
G ARHGAP4 Rho GTPase activating protein 4 JBrowse link X 153,349,050 153,367,709 RGD:9068941
G ATP6AP1 ATPase H+ transporting accessory protein 1 JBrowse link X 153,740,751 153,748,621 RGD:9068941
G AVPR2 arginine vasopressin receptor 2 JBrowse link X 153,346,391 153,348,840 RGD:9068941
G BCAP31 B cell receptor associated protein 31 RGD:9068941
G DKC1 dyskerin pseudouridine synthase 1 JBrowse link X 154,084,412 154,098,475 RGD:9068941
G DNASE1L1 deoxyribonuclease 1 like 1 JBrowse link X 153,712,050 153,725,868 RGD:9068941
G EMD emerin RGD:9068941
G F8 coagulation factor VIII JBrowse link X 154,156,864 154,345,635 RGD:9068941
G FAM3A FAM3 metabolism regulating signaling molecule A JBrowse link X 153,817,983 153,828,158 RGD:9068941
G FAM50A family with sequence similarity 50 member A JBrowse link X 153,756,766 153,763,170 RGD:9068941
G FLNA filamin A RGD:9068941
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 153,843,092 153,860,675 RGD:9068941
G GAB3 GRB2 associated binding protein 3 JBrowse link X 153,993,736 154,073,529 RGD:9068941
G GDI1 GDP dissociation inhibitor 1 JBrowse link X 153,749,661 153,755,877 RGD:9068941
G HCFC1 host cell factor C1 JBrowse link X 153,389,853 153,412,997 RGD:9068941
G HMOX1 heme oxygenase 1 JBrowse link 22 34,230,825 34,244,063 RGD:9068941
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma JBrowse link X 153,222,309 153,231,135 RGD:9068941
G IFNG interferon gamma JBrowse link 12 68,448,861 68,453,829 RGD:9068941
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 153,869,352 153,876,677 RGD:9068941
G IRAK1 interleukin 1 receptor associated kinase 1 JBrowse link X 153,446,827 153,458,189 RGD:9068941
G L1CAM L1 cell adhesion molecule JBrowse link X 153,298,690 153,324,228 RGD:9068941
G LAGE3 L antigen family member 3 JBrowse link X 153,790,497 153,791,581 RGD:9068941
G LOC100975352 sodium- and chloride-dependent creatine transporter 1 JBrowse link X 153,126,415 153,132,917 RGD:9068941
G MECP2 methyl-CpG binding protein 2 JBrowse link X 153,458,248 153,527,854 RGD:9068941
G MMP10 matrix metallopeptidase 10 JBrowse link 11 101,201,665 101,212,103 RGD:9068941
G MMP2 matrix metallopeptidase 2 JBrowse link 16 54,817,228 54,844,279 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 20 43,432,389 43,440,129 RGD:9068941
G MPP1 membrane palmitoylated protein 1 JBrowse link X 154,099,463 154,126,575 RGD:9068941
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit JBrowse link X 153,371,135 153,376,027 RGD:9068941
G PDZD4 PDZ domain containing 4 JBrowse link X 153,240,182 153,267,880 RGD:9068941
G PEX13 peroxisomal biogenesis factor 13 JBrowse link 2A 62,250,887 62,285,163 RGD:9068941
G PEX26 peroxisomal biogenesis factor 26 JBrowse link 22 16,936,388 16,950,182 RGD:9068941
G PLXNA3 plexin A3 JBrowse link X 153,772,700 153,786,167 RGD:9068941
G PLXNB3 plexin B3 JBrowse link X 153,200,971 153,215,909 RGD:9068941
G RENBP renin binding protein JBrowse link X 153,376,853 153,386,214 RGD:9068941
G RPL10 ribosomal protein L10 JBrowse link X 153,707,645 153,712,855 RGD:9068941
G SLC10A3 solute carrier family 10 member 3 JBrowse link X 153,800,354 153,803,680 RGD:9068941
G SMIM9 small integral membrane protein 9 JBrowse link X 154,144,752 154,151,903 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 6 162,576,082 162,589,960 RGD:9068941
G SRPK3 SRSF protein kinase 3 JBrowse link X 153,217,064 153,222,305 RGD:9068941
G SSR4 signal sequence receptor subunit 4 JBrowse link X 153,230,137 153,235,124 RGD:9068941
G TAZ tafazzin JBrowse link X 153,725,299 153,734,046 RGD:9068941
G TEX28 testis expressed 28 RGD:9068941
G TIMP1 TIMP metallopeptidase inhibitor 1 JBrowse link X 47,914,906 47,919,419 RGD:9068941
G TKTL1 transketolase like 1 RGD:9068941
G TMEM187 transmembrane protein 187 JBrowse link X 153,414,519 153,420,898 RGD:9068941
G UBL4A ubiquitin like 4A JBrowse link X 153,796,889 153,799,214 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 13,250,722 13,634,152 RGD:9068941
Adult Refsum Disease, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PEX7 peroxisomal biogenesis factor 7 JBrowse link 6 138,671,616 138,763,241 RGD:7240710
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNB1 lamin B1 JBrowse link 5 127,949,457 128,010,721 RGD:7240710
Alexander Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC103 coiled-coil domain containing 103 JBrowse link 17 12,591,698 12,595,664 RGD:9068941
G GFAP glial fibrillary acidic protein JBrowse link 17 12,579,754 12,589,748 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 73,791,225 73,903,727 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 3 147,074,993 147,204,399 RGD:9068941
G ATRX ATRX chromatin remodeler JBrowse link X 76,795,574 77,083,486 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 2A 74,926,650 75,158,734 RGD:7240710
RGD:9068941
Arts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PITX2 paired like homeodomain 2 JBrowse link 4 113,676,846 113,696,518 RGD:9068941
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 107,094,898 107,117,117 RGD:7240710
ataxia telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAT1 acetyl-CoA acetyltransferase 1 JBrowse link 11 106,483,563 106,509,793 RGD:9068941
G ATM ATM serine/threonine kinase JBrowse link 11 106,584,228 106,728,457 RGD:7240710
G BAK1 BCL2 antagonist/killer 1 JBrowse link 6 34,255,769 34,263,211 RGD:9068941
G BAX BCL2 associated X, apoptosis regulator JBrowse link 19 54,793,594 54,800,466 RGD:9068941
G BIK BCL2 interacting killer JBrowse link 22 42,194,353 42,213,022 RGD:9068941
G C11H11orf65 chromosome 11 C11orf65 homolog JBrowse link 11 106,669,823 106,822,761 RGD:9068941
G HDAC4 histone deacetylase 4 JBrowse link 2B 245,123,061 245,428,441 RGD:9068941
G IFNG interferon gamma JBrowse link 12 68,448,861 68,453,829 RGD:9068941
G IL2 interleukin 2 JBrowse link 4 125,782,563 125,787,819 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 RGD:9068941
G LOC100983381 protein NPAT JBrowse link 11 106,519,438 106,584,062 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 11 92,908,403 92,985,966 RGD:9068941
G PCNA proliferating cell nuclear antigen JBrowse link 20 4,927,731 4,939,440 RGD:9068941
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APTX aprataxin JBrowse link 9 33,556,419 33,608,416 RGD:7240710
RGD:9068941
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 19 55,790,048 55,796,762 RGD:9068941
ataxia with oculomotor apraxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APTX aprataxin JBrowse link 9 33,556,419 33,608,416 RGD:9068941
G SETX senataxin JBrowse link 9 132,016,513 132,109,665 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 17 47,421,204 47,507,282 RGD:7240710
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 16 89,866,884 89,917,867 RGD:9068941
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 19 55,790,048 55,796,762 RGD:7240710
Ataxia-Telangiectasia Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATM ATM serine/threonine kinase JBrowse link 11 106,584,228 106,728,457 RGD:9068941
G C11H11orf65 chromosome 11 C11orf65 homolog JBrowse link 11 106,669,823 106,822,761 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 11 92,908,403 92,985,966 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 20 4,927,731 4,939,440 RGD:7240710
Atkin Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100970467 IQ motif and Sec7 domain ArfGEF 2 JBrowse link X 53,557,847 53,604,744 RGD:9068941
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FDXR ferredoxin reductase JBrowse link 17 74,364,343 74,374,852 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 19 10,342,478 10,390,397 RGD:7240710
autosomal dominant Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 4 6,345,960 6,379,094 RGD:7240710
autosomal recessive cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANO10 anoctamin 10 JBrowse link 3 44,317,137 44,571,627 RGD:9068941
G COQ8A coenzyme Q8A JBrowse link 1 207,390,883 207,436,008 RGD:9068941
G SPTBN2 spectrin beta, non-erythrocytic 2 JBrowse link 11 65,365,588 65,409,207 RGD:9068941
G SYNE1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 6 154,627,898 155,144,076 RGD:9068941
G TDP1 tyrosyl-DNA phosphodiesterase 1 JBrowse link 14 89,926,462 90,014,802 RGD:9068941
G TWNK twinkle mtDNA helicase JBrowse link 10 101,065,082 101,071,407 RGD:9068941
autosomal recessive spinocerebellar ataxia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANO10 anoctamin 10 JBrowse link 3 44,317,137 44,571,627 RGD:7240710
autosomal recessive spinocerebellar ataxia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SYT14 synaptotagmin 14 JBrowse link 1 190,386,087 190,596,464 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 16 79,618,156 79,624,460 RGD:9068941
G WWOX WW domain containing oxidoreductase JBrowse link 16 78,124,887 79,232,509 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 6 148,535,492 148,945,327 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 11 65,365,588 65,409,207 RGD:7240710
autosomal recessive spinocerebellar ataxia 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RUBCN rubicon autophagy regulator JBrowse link 3 204,974,746 205,049,871 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 16 695,575 698,914 RGD:9068941
G STUB1 STIP1 homology and U-box containing protein 1 JBrowse link 16 694,414 696,682 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 10 100,319,979 100,354,604 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 4 95,339,204 96,809,804 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 1 27,414,937 27,475,089 RGD:7240710
autosomal recessive spinocerebellar ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PMPCA peptidase, mitochondrial processing subunit alpha JBrowse link 9 136,464,070 136,477,569 RGD:7240710
autosomal recessive spinocerebellar ataxia 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SNX14 sorting nexin 14 JBrowse link 6 86,671,608 86,759,187 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 11 64,220,543 64,233,415 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 2A 99,001,077 99,226,175 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 6 24,819,494 24,837,189 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 3 137,208,916 137,227,246 RGD:7240710
autosomal recessive spinocerebellar ataxia 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATG5 autophagy related 5 JBrowse link 6 107,871,201 108,027,064 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 19 49,093,928 49,125,723 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 1 119,590,672 119,656,606 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 5 159,737,327 159,747,405 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 1 12,197,389 12,476,612 RGD:7240710
autosomal recessive spinocerebellar ataxia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TPP1 tripeptidyl peptidase 1 JBrowse link 11 6,427,516 6,434,222 RGD:7240710
autosomal recessive spinocerebellar ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ESR1 estrogen receptor 1 JBrowse link 6 154,200,521 154,635,806 RGD:9068941
G FBXO5 F-box protein 5 JBrowse link 6 155,481,767 155,494,689 RGD:9068941
G MTRF1L mitochondrial translational release factor 1 like JBrowse link 6 155,498,473 155,513,916 RGD:9068941
G MYCT1 MYC target 1 JBrowse link 6 155,205,805 155,228,622 RGD:9068941
G RGS17 regulator of G protein signaling 17 JBrowse link 6 155,521,826 155,555,151 RGD:9068941
G SYNE1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 6 154,627,898 155,144,076 RGD:7240710
G VIP vasoactive intestinal peptide JBrowse link 6 155,236,848 155,263,730 RGD:9068941
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100990610 cytochrome c oxidase assembly factor 7 JBrowse link 1 53,554,945 53,566,488 RGD:7240710
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXC1 forkhead box C1 RGD:9068941
G PAX6 paired box 6 JBrowse link 11 31,641,813 31,671,071 RGD:9068941
G PITX2 paired like homeodomain 2 JBrowse link 4 113,676,846 113,696,518 RGD:7240710
G PRDM5 PR/SET domain 5 JBrowse link 4 124,036,911 124,252,056 RGD:9068941
Basilicata-Akhtar syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MSL3 MSL complex subunit 3 JBrowse link X 11,676,301 11,693,474 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 133,822,260 133,877,452 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 5 21,394,235 21,886,210 RGD:9068941
G KIAA0825 KIAA0825 ortholog JBrowse link 5 20,894,477 21,353,552 RGD:9068941
G NR2F1 nuclear receptor subfamily 2 group F member 1 JBrowse link 5 21,909,691 21,918,776 RGD:7240710
G POU5F2 POU domain class 5, transcription factor 2 JBrowse link 5 21,763,167 21,764,466 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 19 7,683,241 7,710,444 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 16 29,265,107 29,274,924 RGD:7240710
G ATXN2L ataxin 2 like JBrowse link 16 29,210,011 29,223,859 RGD:9068941
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 JBrowse link 16 29,291,023 29,314,177 RGD:9068941
G SH2B1 SH2B adaptor protein 1 JBrowse link 16 29,233,705 29,261,072 RGD:9068941
G TUFM Tu translation elongation factor, mitochondrial JBrowse link 16 29,229,905 29,233,508 RGD:9068941
Canavan disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ASPA aspartoacylase JBrowse link 17 3,522,858 3,546,279 RGD:7240710
RGD:9068941
G CSPG4 chondroitin sulfate proteoglycan 4 JBrowse link 15 74,176,684 74,214,717 RGD:9068941
G CTNS cystinosin, lysosomal cystine transporter JBrowse link 17 3,683,562 3,708,253 RGD:9068941
G EMC6 ER membrane protein complex subunit 6 JBrowse link 17 3,715,387 3,716,332 RGD:9068941
G GLUD1 glutamate dehydrogenase 1 RGD:9068941
G HASPIN histone H3 associated protein kinase JBrowse link 17 3,767,364 3,770,167 RGD:9068941
G ITGAE integrin subunit alpha E JBrowse link 17 3,758,511 3,841,729 RGD:9068941
G P2RX5 purinergic receptor P2X 5 JBrowse link 17 3,720,232 3,735,656 RGD:9068941
G SHPK sedoheptulokinase JBrowse link 17 3,654,237 3,683,422 RGD:9068941
G SPATA22 spermatogenesis associated 22 JBrowse link 17 3,489,143 3,560,652 RGD:9068941
G TAX1BP3 Tax1 binding protein 3 JBrowse link 17 3,709,600 3,715,342 RGD:9068941
G TRPV1 transient receptor potential cation channel subfamily V member 1 JBrowse link 17 3,609,952 3,655,011 RGD:9068941
G TRPV3 transient receptor potential cation channel subfamily V member 3 JBrowse link 17 3,516,209 3,603,787 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 19 47,357,926 47,383,736 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 1 200,703,860 200,756,849 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 19 3,854,423 3,900,175 RGD:7240710
cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATCAY ATCAY kinesin light chain interacting caytaxin JBrowse link 19 3,854,423 3,900,175 RGD:9068941
G ATM ATM serine/threonine kinase JBrowse link 11 106,584,228 106,728,457 RGD:9068941
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 19 13,506,232 13,804,815 RGD:9068941
G CEP104 centrosomal protein 104 JBrowse link 1 3,607,940 3,649,450 RGD:9068941
G CIZ1 CDKN1A interacting zinc finger protein 1 JBrowse link 9 127,956,915 127,982,389 RGD:9068941
G CLCN2 chloride voltage-gated channel 2 JBrowse link 3 189,865,627 189,881,049 RGD:9068941
G COQ8A coenzyme Q8A JBrowse link 1 207,390,883 207,436,008 RGD:9068941
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial JBrowse link 1 153,045,886 153,080,461 RGD:9068941
G DNM1 dynamin 1 JBrowse link 9 128,008,224 128,045,224 RGD:9068941
G DNMT1 DNA methyltransferase 1 JBrowse link 19 10,342,478 10,390,397 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 102,406,807 102,489,678 RGD:9068941
G ESR1 estrogen receptor 1 JBrowse link 6 154,200,521 154,635,806 RGD:9068941
G GJB1 gap junction protein beta 1 JBrowse link X 70,538,213 70,548,917 RGD:9068941
G GRM1 glutamate metabotropic receptor 1 JBrowse link 6 148,535,492 148,945,327 RGD:9068941
G HARS1 histidyl-tRNA synthetase 1 JBrowse link 5 142,154,552 142,172,371 RGD:9068941
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 17 5,024,740 5,034,865 RGD:9068941
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 JBrowse link 3 4,549,775 4,904,811 RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 1 139,312,371 139,345,145 RGD:9068941
G KIF1C kinesin family member 1C JBrowse link 17 5,035,014 5,061,957 RGD:9068941
G KIF7 kinesin family member 7 JBrowse link 15 87,528,828 87,555,931 RGD:9068941
G L2HGDH L-2-hydroxyglutarate dehydrogenase JBrowse link 14 49,137,141 49,205,993 RGD:9068941
G LOC100983419 voltage-dependent T-type calcium channel subunit alpha-1G JBrowse link 17 49,528,819 49,595,487 RGD:9068941
G LOC100983451 surfeit locus protein 1 JBrowse link 9 133,085,739 133,088,911 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 1 11,945,849 11,981,077 RGD:9068941
G MLC1 modulator of VRAC current 1 JBrowse link 22 49,289,366 49,315,171 RGD:9068941
G NOP56 NOP56 ribonucleoprotein JBrowse link 20 2,523,619 2,529,509 RGD:9068941
G PMM2 phosphomannomutase 2 JBrowse link 16 8,971,692 9,020,406 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 87,214,451 87,234,739 RGD:9068941
G POMT1 protein O-mannosyltransferase 1 JBrowse link 9 131,265,750 131,285,881 RGD:9068941
G PTRH2 peptidyl-tRNA hydrolase 2 JBrowse link 17 58,605,850 58,615,804 RGD:9068941
G RFC1 replication factor C subunit 1 JBrowse link 4 39,471,719 39,548,548 RGD:9068941
G RPGRIP1L RPGRIP1 like JBrowse link 16 52,920,790 53,023,178 RGD:9068941
G RPL27A ribosomal protein L27a JBrowse link 11 8,549,367 8,552,844 RGD:9068941
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 12 37,725,471 38,057,190 RGD:9068941
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 4 24,802,260 24,842,816 RGD:9068941
G SETX senataxin JBrowse link 9 132,016,513 132,109,665 RGD:9068941
G SLC2A1 solute carrier family 2 member 1 JBrowse link 1 43,600,733 43,634,143 RGD:9068941
G SNX14 sorting nexin 14 JBrowse link 6 86,671,608 86,759,187 RGD:9068941
G SPART spartin JBrowse link 13 35,944,556 35,989,775 RGD:9068941
G SPTBN2 spectrin beta, non-erythrocytic 2 JBrowse link 11 65,365,588 65,409,207 RGD:9068941
G SYNE1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 6 154,627,898 155,144,076 RGD:9068941
G SYNGAP1 synaptic Ras GTPase activating protein 1 JBrowse link 6 34,111,285 34,144,490 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 15 87,142,871 87,215,271 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 87,214,451 87,234,739 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 4 125,217,086 125,288,918 RGD:7240710
cerebellar ataxia type 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100983419 voltage-dependent T-type calcium channel subunit alpha-1G JBrowse link 17 49,528,819 49,595,487 RGD:7240710
cerebellar ataxia type 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MME membrane metalloendopeptidase JBrowse link 3 159,637,965 160,292,119 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 1 31,230,268 31,364,348 RGD:7240710
cerebellar ataxia type 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JMJD8 jumonji domain containing 8 JBrowse link 16 695,575 698,914 RGD:9068941
G STUB1 STIP1 homology and U-box containing protein 1 JBrowse link 16 694,414 696,682 RGD:7240710
cerebellar ataxia, mental retardation and dysequlibrium syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP8A2 ATPase phospholipid transporting 8A2 JBrowse link 13 25,111,454 25,668,526 RGD:9068941
G VLDLR very low density lipoprotein receptor JBrowse link 9 2,621,325 2,653,980 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 9 2,621,325 2,653,980 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 17 1,603,475 1,617,042 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 8 58,273,696 58,367,615 RGD:7240710
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP8A2 ATPase phospholipid transporting 8A2 JBrowse link 13 25,111,454 25,668,526 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 4 142,731,593 142,849,724 RGD:9068941
G RFC1 replication factor C subunit 1 JBrowse link 4 39,471,719 39,548,548 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 3 51,524,200 51,638,249 RGD:7240710
G LOC100972845 cytochrome b561 domain-containing protein 2 JBrowse link 3 51,512,141 51,515,481 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 10 76,053,915 76,820,639 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 1 19,223,355 19,257,161 RGD:7240710
Cerebellar Hypoplasia with Endosteal Sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POLR3B RNA polymerase III subunit B JBrowse link 12 107,330,315 107,477,279 RGD:9068941
Cerebellofaciodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit JBrowse link 14 105,635,757 105,714,465 RGD:7240710
Cerebrooculofacioskeletal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC6 ERCC excision repair 6, chromatin remodeling factor 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 19 50,897,004 50,915,849 RGD:9068941
G ERCC6 ERCC excision repair 6, chromatin remodeling factor 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 19 50,897,004 50,915,849 RGD:7240710
Cerebrooculofacioskeletal Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC5 ERCC excision repair 5, endonuclease JBrowse link 13 103,142,508 103,173,022 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 19 50,951,674 50,994,600 RGD:7240710
G POLR1G RNA polymerase I subunit G JBrowse link 19 50,950,958 50,954,115 RGD:9068941
Charcot-Marie-Tooth disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS1 alanyl-tRNA synthetase 1 JBrowse link 16 70,086,735 70,121,902 RGD:9068941
G ARF1 ADP ribosylation factor 1 JBrowse link 1 208,695,615 208,712,105 RGD:9068941
G ARHGEF10 Rho guanine nucleotide exchange factor 10 JBrowse link 8 1,747,801 1,862,917 RGD:9068941
G ATL1 atlastin GTPase 1 JBrowse link 14 49,452,923 49,524,726 RGD:9068941
G ATP7A ATPase copper transporting alpha JBrowse link X 77,205,579 77,342,762 RGD:9068941
G BAG3 BAG cochaperone 3 JBrowse link 10 119,654,366 119,665,964 RGD:9068941
G BICD2 BICD cargo adaptor 2 JBrowse link 9 91,905,982 91,959,186 RGD:9068941
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 11 61,399,314 61,416,494 RGD:9068941
G CNTNAP2 contactin associated protein 2 JBrowse link 7 150,344,805 152,632,198 RGD:9068941
G CTDP1 CTD phosphatase subunit 1 JBrowse link 18 76,646,641 76,720,928 RGD:9068941
G DCTN1 dynactin subunit 1 JBrowse link 2A 75,934,408 75,965,012 RGD:9068941
G DCTN2 dynactin subunit 2 JBrowse link 12 31,638,272 31,655,458 RGD:9068941
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 2B 225,127,967 225,135,556 RGD:9068941
G DNM2 dynamin 2 JBrowse link 19 10,974,699 11,107,354 RGD:9068941
G DNMT1 DNA methyltransferase 1 JBrowse link 19 10,342,478 10,390,397 RGD:9068941
G DST dystonin JBrowse link 6 57,646,402 58,144,563 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 102,406,807 102,489,678 RGD:9068941
G EGR2 early growth response 2 JBrowse link 10 61,648,364 61,652,846 RGD:9068941
G ELP1 elongator complex protein 1 JBrowse link 9 108,194,008 108,258,500 RGD:9068941
G FBXO38 F-box protein 38 JBrowse link 5 149,823,271 149,882,592 RGD:9068941
G FGD4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 12 56,177,209 56,421,662 RGD:9068941
G FIG4 FIG4 phosphoinositide 5-phosphatase JBrowse link 6 111,539,937 111,673,894 RGD:9068941
G GAN gigaxonin JBrowse link 16 81,347,221 81,410,363 RGD:9068941
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 7 31,329,572 31,368,719 RGD:9068941
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 8 72,528,869 72,545,354 RGD:9068941
G GJB1 gap junction protein beta 1 JBrowse link X 70,538,213 70,548,917 RGD:9068941
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta JBrowse link 2A 26,334,043 26,379,059 RGD:9068941
G HINT1 histidine triad nucleotide binding protein 1 JBrowse link 5 132,755,766 132,761,823 RGD:9068941
G HOXD10 homeobox D10 JBrowse link 2B 181,104,876 181,108,942 RGD:9068941
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 7 82,751,385 82,753,109 RGD:9068941
G HSPB8 heat shock protein family B (small) member 8 JBrowse link 12 120,136,986 120,153,102 RGD:9068941
G IFRD1 interferon related developmental regulator 1 JBrowse link 7 117,115,187 117,141,887 RGD:9068941
G IGHMBP2 immunoglobulin mu DNA binding protein 2 JBrowse link 11 67,294,195 67,331,659 RGD:9068941
G INF2 inverted formin 2 JBrowse link 14 105,143,791 105,163,941 RGD:9068941
G KARS1 lysyl-tRNA synthetase 1 JBrowse link 16 75,544,996 75,565,947 RGD:9068941
G KIF1B kinesin family member 1B JBrowse link 1 10,198,997 10,367,786 RGD:9068941
G LAMA2 laminin subunit alpha 2 JBrowse link 6 130,781,676 131,415,549 RGD:9068941
G LITAF lipopolysaccharide induced TNF factor JBrowse link 16 11,714,325 11,753,902 RGD:9068941
G LMNA lamin A/C JBrowse link 1 135,253,700 135,311,542 RGD:9068941
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 127,245,508 127,297,645 RGD:9068941
G MARS1 methionyl-tRNA synthetase 1 JBrowse link 12 31,668,634 31,693,988 RGD:9068941
G MED25 mediator complex subunit 25 JBrowse link 19 55,747,445 55,765,978 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 1 11,945,849 11,981,077 RGD:9068941
G MORC2 MORC family CW-type zinc finger 2 JBrowse link 22 29,751,768 29,795,632 RGD:9068941
G MPZ myelin protein zero JBrowse link 1 140,603,609 140,631,273 RGD:7240710
G MTMR2 myotubularin related protein 2 JBrowse link 11 94,367,038 94,457,138 RGD:9068941
G MYH14 myosin heavy chain 14 JBrowse link 19 56,076,709 56,178,650 RGD:9068941
G NDRG1 N-myc downstream regulated 1 JBrowse link 8 132,866,245 132,926,514 RGD:9068941
G NEFL neurofilament light JBrowse link 8 21,134,533 21,140,694 RGD:9068941
G NGF nerve growth factor JBrowse link 1 122,272,750 122,325,909 RGD:9068941
G NRG1 neuregulin 1 JBrowse link 8 29,049,787 29,267,531 RGD:9068941
G NTRK2 neurotrophic receptor tyrosine kinase 2 JBrowse link 9 84,022,677 84,378,307 RGD:9068941
G PLD3 phospholipase D family member 3 JBrowse link 19 45,910,035 45,939,343 RGD:9068941
G PMP22 peripheral myelin protein 22 JBrowse link 17 41,038,286 41,073,872 RGD:7240710
G PRX periaxin JBrowse link 19 45,952,420 45,971,987 RGD:9068941
G RAB7A RAB7A, member RAS oncogene family JBrowse link 3 133,214,246 133,233,403 RGD:9068941
G REEP1 receptor accessory protein 1 JBrowse link 2A 87,814,041 87,881,687 RGD:9068941
G RETREG1 reticulophagy regulator 1 JBrowse link 5 16,612,583 16,756,808 RGD:9068941
G SBF1 SET binding factor 1 JBrowse link 22 49,676,131 49,702,479 RGD:9068941
G SBF2 SET binding factor 2 JBrowse link 11 9,639,828 10,154,637 RGD:9068941
G SCN11A sodium voltage-gated channel alpha subunit 11 JBrowse link 3 39,024,090 39,131,293 RGD:9068941
G SCN9A sodium voltage-gated channel alpha subunit 9 JBrowse link 2B 170,944,974 171,119,275 RGD:9068941
G SDHC succinate dehydrogenase complex subunit C JBrowse link 1 140,635,250 140,683,390 RGD:9068941
G SEMA5A semaphorin 5A JBrowse link 5 9,168,549 9,672,779 RGD:9068941
G SEPTIN9 septin 9 JBrowse link 17 76,920,236 77,139,586 RGD:9068941
G SETX senataxin JBrowse link 9 132,016,513 132,109,665 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 5 150,439,183 150,498,467 RGD:9068941
G SLC12A6 solute carrier family 12 member 6 JBrowse link 15 31,575,336 31,681,016 RGD:9068941
G SLC25A46 solute carrier family 25 member 46 JBrowse link 5 111,907,978 111,935,036 RGD:9068941
G SLC5A7 solute carrier family 5 member 7 JBrowse link 2A 109,018,073 109,045,292 RGD:9068941
G SORD sorbitol dehydrogenase JBrowse link 15 42,363,854 42,375,848 RGD:9068941
G SOX10 SRY-box transcription factor 10 JBrowse link 22 36,712,128 36,724,192 RGD:9068941
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 JBrowse link 9 91,185,574 91,213,003 RGD:9068941
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 JBrowse link 14 77,266,545 77,370,663 RGD:9068941
G TFG trafficking from ER to golgi regulator JBrowse link 3 104,482,338 104,521,919 RGD:9068941
G TNFRSF11B TNF receptor superfamily member 11b JBrowse link 8 118,134,305 118,162,422 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:9068941
G WNK1 WNK lysine deficient protein kinase 1 JBrowse link 12 791,153 945,216 RGD:9068941
G YARS1 tyrosyl-tRNA synthetase 1 JBrowse link 1 33,232,163 33,295,347 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 8 72,528,869 72,545,354 RGD:9068941
G NEFH neurofilament heavy JBrowse link 22 28,331,778 28,341,874 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 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 22 28,331,778 28,341,874 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 7 82,751,385 82,753,109 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 8 72,125,388 72,151,118 RGD:9068941
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 8 72,528,869 72,545,354 RGD:7240710
G JPH1 junctophilin 1 JBrowse link 8 72,413,794 72,500,252 RGD:7240710
G LY96 lymphocyte antigen 96 JBrowse link 8 72,169,986 72,207,380 RGD:9068941
G TMEM70 transmembrane protein 70 JBrowse link 8 72,154,872 72,161,500 RGD:9068941
G UBE2W ubiquitin conjugating enzyme E2 W JBrowse link 8 71,961,890 72,060,302 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 12 120,136,986 120,153,102 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 16 70,086,735 70,121,902 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 102,406,807 102,489,678 RGD:7240710
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma JBrowse link 14 102,206,546 102,372,978 RGD:9068941
Charcot-Marie-Tooth disease axonal type 2P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 127,245,508 127,297,645 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 12,053,943 12,110,691 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 11 67,294,195 67,331,659 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 2B 225,127,967 225,135,556 RGD:9068941
G MME membrane metalloendopeptidase JBrowse link 3 159,637,965 160,292,119 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 12 31,668,634 31,693,988 RGD:7240710
Charcot-Marie-Tooth disease axonal type 2V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NAGLU N-acetyl-alpha-glucosaminidase JBrowse link 17 14,996,420 15,004,124 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 15 41,688,081 41,788,616 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 22 29,751,768 29,795,632 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 19 10,974,699 11,107,354 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 1 33,778,059 33,792,420 RGD:9068941
G ADPRS ADP-ribosylserine hydrolase JBrowse link 1 36,529,069 36,534,235 RGD:9068941
G AGO1 argonaute RISC component 1 JBrowse link 1 36,324,733 36,370,798 RGD:9068941
G AGO4 argonaute RISC component 4 JBrowse link 1 36,249,040 36,299,259 RGD:9068941
G AK2 adenylate kinase 2 JBrowse link 1 33,480,074 33,508,697 RGD:9068941
G AKIRIN1 akirin 1 JBrowse link 1 39,615,879 39,631,132 RGD:9068941
G AKR1A1 aldo-keto reductase family 1 member A1 JBrowse link 1 46,211,859 46,230,072 RGD:9068941
G ARMH1 armadillo like helical domain containing 1 JBrowse link 1 45,343,440 45,393,811 RGD:9068941
G ARTN artemin JBrowse link 1 44,604,514 44,610,643 RGD:9068941
G ATP6V0B ATPase H+ transporting V0 subunit b JBrowse link 1 44,647,577 44,651,482 RGD:9068941
G AZIN2 antizyme inhibitor 2 JBrowse link 1 33,550,140 33,629,953 RGD:9068941
G B4GALT2 beta-1,4-galactosyltransferase 2 JBrowse link 1 44,652,135 44,664,401 RGD:9068941
G BEST4 bestrophin 4 JBrowse link 1 45,453,277 45,456,691 RGD:9068941
G BMP8A bone morphogenetic protein 8a JBrowse link 1 40,122,134 40,138,165 RGD:9068941
G BMP8B bone morphogenetic protein 8b RGD:9068941
G BTBD19 BTB domain containing 19 JBrowse link 1 45,478,464 45,484,235 RGD:9068941
G C1H1orf109 chromosome 1 C1orf109 homolog JBrowse link 1 38,303,699 38,313,772 RGD:9068941
G C1H1orf122 chromosome 1 C1orf122 homolog JBrowse link 1 38,431,732 38,432,603 RGD:9068941
G C1H1orf210 chromosome 1 C1orf210 homolog JBrowse link 1 43,960,668 43,964,406 RGD:9068941
G C1H1orf216 chromosome 1 C1orf216 homolog JBrowse link 1 36,161,619 36,167,238 RGD:9068941
G C1H1orf50 chromosome 1 C1orf50 homolog JBrowse link 1 43,443,615 43,458,168 RGD:9068941
G C1H1orf94 chromosome 1 C1orf94 homolog JBrowse link 1 34,625,809 34,678,740 RGD:9068941
G CAP1 cyclase associated actin cytoskeleton regulatory protein 1 JBrowse link 1 40,651,089 40,683,777 RGD:9068941
G CCDC17 coiled-coil domain containing 17 JBrowse link 1 46,279,879 46,283,930 RGD:9068941
G CCDC24 coiled-coil domain containing 24 JBrowse link 1 44,664,832 44,669,409 RGD:9068941
G CCDC30 coiled-coil domain containing 30 JBrowse link 1 43,212,384 43,332,018 RGD:9068941
G CDC20 cell division cycle 20 JBrowse link 1 44,039,971 44,044,497 RGD:9068941
G CDCA8 cell division cycle associated 8 JBrowse link 1 38,314,597 38,331,625 RGD:9068941
G CFAP57 cilia and flagella associated protein 57 JBrowse link 1 43,848,111 43,933,279 RGD:9068941
G CITED4 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 RGD:9068941
G CLDN19 claudin 19 JBrowse link 1 43,408,869 43,417,458 RGD:9068941
G CLSPN claspin JBrowse link 1 36,168,444 36,218,544 RGD:9068941
G COL8A2 collagen type VIII alpha 2 chain JBrowse link 1 36,535,542 36,556,413 RGD:9068941
G COL9A2 collagen type IX alpha 2 chain JBrowse link 1 40,918,814 40,935,953 RGD:9068941
G CSF3R colony stimulating factor 3 receptor JBrowse link 1 36,897,148 36,914,398 RGD:9068941
G CSMD2 CUB and Sushi multiple domains 2 JBrowse link 1 33,984,656 34,625,977 RGD:9068941
G CTPS1 CTP synthase 1 JBrowse link 1 41,592,069 41,624,455 RGD:9068941
G DLGAP3 DLG associated protein 3 JBrowse link 1 35,313,468 35,373,444 RGD:9068941
G DMAP1 DNA methyltransferase 1 associated protein 1 JBrowse link 1 44,886,268 44,893,598 RGD:9068941
G DNALI1 dynein axonemal light intermediate chain 1 JBrowse link 1 38,179,381 38,189,313 RGD:9068941
G DPH2 diphthamide biosynthesis 2 JBrowse link 1 44,643,142 44,646,545 RGD:9068941
G EBNA1BP2 EBNA1 binding protein 2 JBrowse link 1 43,839,917 43,848,352 RGD:9068941
G EDN2 endothelin 2 JBrowse link 1 42,092,811 42,098,721 RGD:9068941
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma JBrowse link 1 45,520,587 45,655,424 RGD:9068941
G ELOVL1 ELOVL fatty acid elongase 1 JBrowse link 1 44,044,693 44,064,111 RGD:9068941
G EPHA10 EPH receptor A10 JBrowse link 1 38,335,783 38,375,186 RGD:9068941
G ERI3 ERI1 exoribonuclease family member 3 JBrowse link 1 44,894,011 45,027,265 RGD:9068941
G ERMAP erythroblast membrane associated protein (Scianna blood group) JBrowse link 1 43,501,180 43,520,622 RGD:9068941
G EVA1B eva-1 homolog B JBrowse link 1 36,753,593 36,754,896 RGD:9068941
G EXO5 exonuclease 5 JBrowse link 1 41,121,293 41,128,526 RGD:9068941
G FAM183A family with sequence similarity 183 member A JBrowse link 1 43,823,403 43,832,236 RGD:9068941
G FHL3 four and a half LIM domains 3 JBrowse link 1 38,618,231 38,626,542 RGD:9068941
G FNDC5 fibronectin type III domain containing 5 JBrowse link 1 33,338,886 33,347,278 RGD:9068941
G FOXJ3 forkhead box J3 JBrowse link 1 42,855,060 43,017,611 RGD:9068941
G FOXO6 forkhead box O6 JBrowse link 1 41,975,717 41,997,356 RGD:9068941
G GJA4 gap junction protein alpha 4 JBrowse link 1 35,241,402 35,244,191 RGD:9068941
G GJA9 gap junction protein alpha 9 JBrowse link 1 39,492,129 39,499,524 RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 1 35,229,660 35,234,821 RGD:9068941
G GJB4 gap junction protein beta 4 JBrowse link 1 35,208,367 35,210,949 RGD:9068941
G GJB5 gap junction protein beta 5 JBrowse link 1 35,203,658 35,207,134 RGD:9068941
G GNL2 G protein nucleolar 2 JBrowse link 1 38,189,273 38,218,359 RGD:9068941
G GPBP1L1 GC-rich promoter binding protein 1 like 1 JBrowse link 1 46,286,569 46,345,170 RGD:9068941
G GRIK3 glutamate ionotropic receptor kainate type subunit 3 JBrowse link 1 37,413,660 37,651,769 RGD:9068941
G GUCA2A guanylate cyclase activator 2A JBrowse link 1 42,841,930 42,844,005 RGD:9068941
G GUCA2B guanylate cyclase activator 2B JBrowse link 1 42,832,809 42,835,202 RGD:9068941
G HECTD3 HECT domain E3 ubiquitin protein ligase 3 JBrowse link 1 45,670,302 45,678,898 RGD:9068941
G HEYL hes related family bHLH transcription factor with YRPW motif like JBrowse link 1 40,240,114 40,256,300 RGD:9068941
G HIVEP3 HIVEP zinc finger 3 JBrowse link 1 42,120,734 42,243,687 RGD:9068941
G HMGB4 high mobility group box 4 JBrowse link 1 34,329,708 34,334,020 RGD:9068941
G HPCA hippocalcin JBrowse link 1 33,362,921 33,371,524 RGD:9068941
G HPCAL4 hippocalcin like 4 JBrowse link 1 40,295,463 40,308,469 RGD:9068941
G HPDL 4-hydroxyphenylpyruvate dioxygenase like JBrowse link 1 45,988,044 45,989,883 RGD:9068941
G HYI hydroxypyruvate isomerase (putative) JBrowse link 1 44,130,134 44,133,238 RGD:9068941
G INPP5B inositol polyphosphate-5-phosphatase B JBrowse link 1 38,484,928 38,568,449 RGD:9068941
G IPO13 importin 13 JBrowse link 1 44,619,894 44,641,197 RGD:9068941
G IPP intracisternal A particle-promoted polypeptide JBrowse link 1 46,351,490 46,408,224 RGD:9068941
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 1 41,396,117 41,452,780 RGD:9068941
G KDM4A lysine demethylase 4A JBrowse link 1 44,325,218 44,380,163 RGD:9068941
G KIAA0319L KIAA0319 like JBrowse link 1 35,879,029 36,002,743 RGD:9068941
G KIAA0754 KIAA0754 ortholog JBrowse link 1 40,020,383 40,025,176 RGD:9068941
G KIF2C kinesin family member 2C JBrowse link 1 45,408,736 45,436,844 RGD:9068941
G KLF17 Kruppel like factor 17 JBrowse link 1 44,721,612 44,807,348 RGD:9068941
G LOC100968913 argonaute RISC catalytic component 3 JBrowse link 1 36,371,926 36,497,190 RGD:9068941
G LSM10 LSM10, U7 small nuclear RNA associated JBrowse link 1 36,829,202 36,833,533 RGD:9068941
G MACF1 microtubule actin crosslinking factor 1 JBrowse link 1 39,820,066 40,097,748 RGD:9068941
G MANEAL mannosidase endo-alpha like JBrowse link 1 38,417,575 38,424,275 RGD:9068941
G MAP7D1 MAP7 domain containing 1 JBrowse link 1 36,596,838 36,621,131 RGD:9068941
G MAST2 microtubule associated serine/threonine kinase 2 JBrowse link 1 46,461,462 46,696,110 RGD:9068941
G MEAF6 MYST/Esa1 associated factor 6 JBrowse link 1 38,111,528 38,159,602 RGD:9068941
G MED8 mediator complex subunit 8 JBrowse link 1 44,063,755 44,068,835 RGD:9068941
G MFSD2A major facilitator superfamily domain containing 2A JBrowse link 1 40,569,706 40,584,438 RGD:9068941
G MMACHC metabolism of cobalamin associated C JBrowse link 1 46,160,364 46,171,672 RGD:9068941
G MPL MPL proto-oncogene, thrombopoietin receptor JBrowse link 1 44,018,395 44,034,492 RGD:9068941
G MRPS15 mitochondrial ribosomal protein S15 JBrowse link 1 36,886,843 36,895,556 RGD:9068941
G MTF1 metal regulatory transcription factor 1 JBrowse link 1 38,432,716 38,482,142 RGD:9068941
G MUTYH mutY DNA glycosylase JBrowse link 1 45,990,588 46,001,764 RGD:9068941
G MYCBP MYC binding protein JBrowse link 1 39,480,992 39,491,542 RGD:9068941
G MYCL MYCL proto-oncogene, bHLH transcription factor JBrowse link 1 40,510,820 40,517,111 RGD:9068941
G NASP nuclear autoantigenic sperm protein JBrowse link 1 46,242,482 46,278,736 RGD:9068941
G NCDN neurochondrin JBrowse link 1 36,002,890 36,011,889 RGD:9068941
G NDUFS5 NADH:ubiquinone oxidoreductase subunit S5 JBrowse link 1 39,651,660 39,659,266 RGD:9068941
G NFYC nuclear transcription factor Y subunit gamma JBrowse link 1 41,304,194 41,383,615 RGD:9068941
G NT5C1A 5'-nucleotidase, cytosolic IA JBrowse link 1 40,268,821 40,289,221 RGD:9068941
G OSCP1 organic solute carrier partner 1 JBrowse link 1 36,849,204 36,881,539 RGD:9068941
G OXCT2 3-oxoacid CoA-transferase 2 JBrowse link 1 40,386,245 40,388,229 RGD:9068941
G P3H1 prolyl 3-hydroxylase 1 JBrowse link 1 43,423,579 43,443,443 RGD:9068941
G PABPC4 poly(A) binding protein cytoplasmic 4 JBrowse link 1 40,172,651 40,188,308 RGD:9068941
G PHC2 polyhomeotic homolog 2 JBrowse link 1 33,794,951 33,901,741 RGD:9068941
G PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 JBrowse link 1 46,700,153 46,835,812 RGD:9068941
G PLK3 polo like kinase 3 JBrowse link 1 45,469,973 45,476,021 RGD:9068941
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 1 46,849,528 46,859,137 RGD:9068941
G POU3F1 POU class 3 homeobox 1 RGD:9068941
G PPCS phosphopantothenoylcysteine synthetase JBrowse link 1 43,136,337 43,153,583 RGD:9068941
G PPIE peptidylprolyl isomerase E JBrowse link 1 40,355,598 40,373,495 RGD:9068941
G PPIH peptidylprolyl isomerase H JBrowse link 1 43,336,039 43,354,609 RGD:9068941
G PPT1 palmitoyl-protein thioesterase 1 JBrowse link 1 40,683,841 40,708,609 RGD:9068941
G PRDX1 peroxiredoxin 1 JBrowse link 1 46,171,453 46,182,018 RGD:9068941
G PSMB2 proteasome 20S subunit beta 2 JBrowse link 1 36,046,963 36,090,294 RGD:9068941
G PTCH2 patched 2 JBrowse link 1 45,492,111 45,513,055 RGD:9068941
G PTPRF protein tyrosine phosphatase receptor type F JBrowse link 1 44,202,298 44,299,309 RGD:9068941
G RHBDL2 rhomboid like 2 JBrowse link 1 39,503,171 39,558,113 RGD:9068941
G RIMKLA ribosomal modification protein rimK like family member A JBrowse link 1 43,061,769 43,103,043 RGD:9068941
G RIMS3 regulating synaptic membrane exocytosis 3 JBrowse link 1 41,233,860 41,278,282 RGD:9068941
G RLF RLF zinc finger JBrowse link 1 40,773,638 40,852,218 RGD:9068941
G RNF19B ring finger protein 19B JBrowse link 1 33,414,247 33,441,955 RGD:9068941
G RNF220 ring finger protein 220 JBrowse link 1 45,076,804 45,320,671 RGD:9068941
G RPS8 ribosomal protein S8 JBrowse link 1 45,444,879 45,448,166 RGD:9068941
G RRAGC Ras related GTP binding C JBrowse link 1 39,456,768 39,478,244 RGD:9068941
G RSPO1 R-spondin 1 JBrowse link 1 38,233,693 38,256,903 RGD:9068941
G S100PBP S100P binding protein JBrowse link 1 33,294,723 33,335,495 RGD:9068941
G SCMH1 Scm polycomb group protein homolog 1 JBrowse link 1 41,639,127 41,809,094 RGD:9068941
G SF3A3 splicing factor 3a subunit 3 JBrowse link 1 38,578,225 38,612,009 RGD:9068941
G SFPQ splicing factor proline and glutamine rich JBrowse link 1 35,624,862 35,641,551 RGD:9068941
G SH3D21 SH3 domain containing 21 JBrowse link 1 36,743,629 36,752,795 RGD:9068941
G SLC2A1 solute carrier family 2 member 1 JBrowse link 1 43,600,733 43,634,143 RGD:9068941
G SLC6A9 solute carrier family 6 member 9 JBrowse link 1 44,669,364 44,704,882 RGD:9068941
G SLFNL1 schlafen like 1 JBrowse link 1 41,627,482 41,637,570 RGD:9068941
G SMAP2 small ArfGAP2 JBrowse link 1 40,983,376 41,033,070 RGD:9068941
G SMIM12 small integral membrane protein 12 RGD:9068941
G SNIP1 Smad nuclear interacting protein 1 JBrowse link 1 38,156,936 38,176,803 RGD:9068941
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 1 44,409,904 44,603,658 RGD:9068941
G STK40 serine/threonine kinase 40 JBrowse link 1 36,775,581 36,821,654 RGD:9068941
G SVBP small vasohibin binding protein JBrowse link 1 43,482,870 43,492,542 RGD:9068941
G SZT2 SZT2 subunit of KICSTOR complex JBrowse link 1 44,068,936 44,130,135 RGD:9068941
G TCTEX1D4 Tctex1 domain containing 4 JBrowse link 1 45,475,939 45,477,485 RGD:9068941
G TEKT2 tektin 2 JBrowse link 1 36,524,381 36,528,586 RGD:9068941
G TESK2 testis associated actin remodelling kinase 2 JBrowse link 1 46,005,185 46,152,041 RGD:9068941
G TFAP2E transcription factor AP-2 epsilon JBrowse link 1 36,010,973 36,040,912 RGD:9068941
G THRAP3 thyroid hormone receptor associated protein 3 JBrowse link 1 36,679,221 36,742,694 RGD:9068941
G TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 JBrowse link 1 43,979,838 44,002,167 RGD:9068941
G TMCO2 transmembrane and coiled-coil domains 2 JBrowse link 1 40,858,869 40,862,639 RGD:9068941
G TMEM125 transmembrane protein 125 JBrowse link 1 43,948,592 43,952,610 RGD:9068941
G TMEM35B transmembrane protein 35B JBrowse link 1 35,427,479 35,431,301 RGD:9068941
G TMEM53 transmembrane protein 53 JBrowse link 1 45,322,209 45,343,326 RGD:9068941
G TMEM54 transmembrane protein 54 JBrowse link 1 33,371,471 33,378,394 RGD:9068941
G TMEM69 transmembrane protein 69 JBrowse link 1 46,345,285 46,351,530 RGD:9068941
G TOE1 target of EGR1, exonuclease JBrowse link 1 46,000,974 46,005,279 RGD:9068941
G TRAPPC3 trafficking protein particle complex 3 JBrowse link 1 36,577,114 36,590,226 RGD:9068941
G TRIM62 tripartite motif containing 62 JBrowse link 1 33,614,555 33,650,859 RGD:9068941
G TRIT1 tRNA isopentenyltransferase 1 JBrowse link 1 40,456,427 40,499,187 RGD:9068941
G TSPAN1 tetraspanin 1 JBrowse link 1 46,835,952 46,846,828 RGD:9068941
G UROD uroporphyrinogen decarboxylase JBrowse link 1 45,679,744 45,683,185 RGD:9068941
G UTP11 UTP11 small subunit processome component JBrowse link 1 38,634,008 38,645,068 RGD:9068941
G YARS1 tyrosyl-tRNA synthetase 1 JBrowse link 1 33,232,163 33,295,347 RGD:7240710
G YBX1 Y-box binding protein 1 JBrowse link 1 43,360,052 43,380,313 RGD:9068941
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing JBrowse link 1 38,426,091 38,430,811 RGD:9068941
G ZC3H12A zinc finger CCCH-type containing 12A JBrowse link 1 38,093,036 38,103,556 RGD:9068941
G ZFP69 ZFP69 zinc finger protein JBrowse link 1 41,089,353 41,108,690 RGD:9068941
G ZFP69B ZFP69 zinc finger protein B JBrowse link 1 41,059,175 41,072,659 RGD:9068941
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 1 40,869,076 40,912,747 RGD:9068941
G ZMYM1 zinc finger MYM-type containing 1 JBrowse link 1 35,527,411 35,563,423 RGD:9068941
G ZMYM4 zinc finger MYM-type containing 4 JBrowse link 1 35,741,605 35,868,117 RGD:9068941
G ZMYM6 zinc finger MYM-type containing 6 JBrowse link 1 35,432,919 35,478,126 RGD:9068941
G ZMYND12 zinc finger MYND-type containing 12 JBrowse link 1 43,110,204 43,136,487 RGD:9068941
G ZNF362 zinc finger protein 362 JBrowse link 1 33,740,196 33,772,024 RGD:9068941
G ZNF684 zinc finger protein 684 JBrowse link 1 41,145,021 41,162,094 RGD:9068941
G ZNF691 zinc finger protein 691 JBrowse link 1 43,522,244 43,528,149 RGD:9068941
G ZSCAN20 zinc finger and SCAN domain containing 20 JBrowse link 1 33,943,212 33,967,139 RGD:9068941
G ZSWIM5 zinc finger SWIM-type containing 5 JBrowse link 1 45,684,005 45,867,303 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 1 140,603,609 140,631,273 RGD:7240710
Charcot-Marie-Tooth disease dominant intermediate E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G INF2 inverted formin 2 JBrowse link 14 105,143,791 105,163,941 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 3 184,601,229 184,630,913 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 8 21,134,533 21,140,694 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 7 147,801,440 147,837,654 RGD:9068941
G DNM2 dynamin 2 JBrowse link 19 10,974,699 11,107,354 RGD:9068941
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 8 72,528,869 72,545,354 RGD:9068941
G IGHMBP2 immunoglobulin mu DNA binding protein 2 JBrowse link 11 67,294,195 67,331,659 RGD:9068941
G KARS1 lysyl-tRNA synthetase 1 JBrowse link 16 75,544,996 75,565,947 RGD:9068941
G MPZ myelin protein zero JBrowse link 1 140,603,609 140,631,273 RGD:9068941
G SDHC succinate dehydrogenase complex subunit C JBrowse link 1 140,635,250 140,683,390 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 5 150,439,183 150,498,467 RGD:9068941
G YARS1 tyrosyl-tRNA synthetase 1 JBrowse link 1 33,232,163 33,295,347 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 8 72,528,869 72,545,354 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 16 75,544,996 75,565,947 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 1 6,481,341 6,511,652 RGD:7240710
Charcot-Marie-Tooth disease recessive intermediate D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC103783978 cytochrome c oxidase subunit 6A1, mitochondrial JBrowse link 12 121,393,898 121,396,561 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 16 70,086,735 70,121,902 RGD:9068941
G CDRT15 CMT1A duplicated region transcript 15 RGD:9068941
G CDRT4 CMT1A duplicated region transcript 4 JBrowse link 17 40,801,122 40,868,224 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 102,406,807 102,489,678 RGD:9068941
G EGR2 early growth response 2 JBrowse link 10 61,648,364 61,652,846 RGD:9068941
G FIG4 FIG4 phosphoinositide 5-phosphatase JBrowse link 6 111,539,937 111,673,894 RGD:9068941
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 7 31,329,572 31,368,719 RGD:9068941
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 8 72,528,869 72,545,354 RGD:9068941
G IGHMBP2 immunoglobulin mu DNA binding protein 2 JBrowse link 11 67,294,195 67,331,659 RGD:9068941
G KIF1B kinesin family member 1B JBrowse link 1 10,198,997 10,367,786 RGD:9068941
G LITAF lipopolysaccharide induced TNF factor JBrowse link 16 11,714,325 11,753,902 RGD:9068941
G LOC100988267 heparan sulfate glucosamine 3-O-sulfotransferase 3B1 JBrowse link 17 41,949,282 41,996,479 RGD:9068941
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 127,245,508 127,297,645 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 1 11,945,849 11,981,077 RGD:9068941
G MORC2 MORC family CW-type zinc finger 2 JBrowse link 22 29,751,768 29,795,632 RGD:9068941
G MPZ myelin protein zero JBrowse link 1 140,603,609 140,631,273 RGD:9068941
G NEFL neurofilament light JBrowse link 8 21,134,533 21,140,694 RGD:9068941
G PMP22 peripheral myelin protein 22 JBrowse link 17 41,038,286 41,073,872 RGD:9068941
G PRX periaxin JBrowse link 19 45,952,420 45,971,987 RGD:9068941
G SDHC succinate dehydrogenase complex subunit C JBrowse link 1 140,635,250 140,683,390 RGD:9068941
G SEPTIN9 septin 9 JBrowse link 17 76,920,236 77,139,586 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 5 150,439,183 150,498,467 RGD:9068941
G TEKT3 tektin 3 JBrowse link 17 40,961,623 41,000,108 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 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 RGD:9068941
G CDRT15 CMT1A duplicated region transcript 15 RGD:9068941
G CDRT4 CMT1A duplicated region transcript 4 JBrowse link 17 40,801,122 40,868,224 RGD:9068941
G LOC100980340 protoheme IX farnesyltransferase, mitochondrial JBrowse link 17 42,089,989 42,274,872 RGD:9068941
G LOC100988267 heparan sulfate glucosamine 3-O-sulfotransferase 3B1 JBrowse link 17 41,949,282 41,996,479 RGD:9068941
G PMP22 peripheral myelin protein 22 JBrowse link 17 41,038,286 41,073,872 RGD:7240710
G TEKT3 tektin 3 JBrowse link 17 40,961,623 41,000,108 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 1 140,603,609 140,631,273 RGD:7240710
G SDHC succinate dehydrogenase complex subunit C JBrowse link 1 140,635,250 140,683,390 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 16 11,714,325 11,753,902 RGD:7240710
G NEFL neurofilament light JBrowse link 8 21,134,533 21,140,694 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 10 61,648,364 61,652,846 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 17 41,038,286 41,073,872 RGD:7240710
Charcot-Marie-Tooth disease type 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEFL neurofilament light JBrowse link 8 21,134,533 21,140,694 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 8 79,586,548 79,593,748 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 16 70,086,735 70,121,902 RGD:9068941
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 JBrowse link 1 135,112,040 135,177,186 RGD:9068941
G BGLAP bone gamma-carboxyglutamate protein JBrowse link 1 135,413,871 135,416,432 RGD:9068941
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 11 61,399,314 61,416,494 RGD:9068941
G COG4 component of oligomeric golgi complex 4 JBrowse link 16 70,318,788 70,360,843 RGD:9068941
G COL12A1 collagen type XII alpha 1 chain JBrowse link 6 76,219,319 76,340,496 RGD:9068941
G DDX19A DEAD-box helicase 19A JBrowse link 16 70,179,078 70,213,036 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 102,406,807 102,489,678 RGD:9068941
G FCSK fucose kinase JBrowse link 16 70,294,061 70,318,493 RGD:9068941
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 7 31,329,572 31,368,719 RGD:9068941
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 7 82,751,385 82,753,109 RGD:9068941
G KHDC4 KH domain containing 4, pre-mRNA splicing factor JBrowse link 1 135,076,831 135,097,760 RGD:9068941
G KIF1B kinesin family member 1B JBrowse link 1 10,198,997 10,367,786 RGD:9068941
G LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 JBrowse link 1 135,226,400 135,230,167 RGD:9068941
G LMNA lamin A/C JBrowse link 1 135,253,700 135,311,542 RGD:9068941
G LOC100984626 ATP-dependent RNA helicase DDX19B JBrowse link 16 70,131,115 70,167,548 RGD:9068941
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 127,245,508 127,297,645 RGD:9068941
G MED25 mediator complex subunit 25 JBrowse link 19 55,747,445 55,765,978 RGD:9068941
G MEX3A mex-3 RNA binding family member A JBrowse link 1 135,243,223 135,253,325 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 1 11,945,849 11,981,077 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,900,881 11,941,308 RGD:9068941
G PMF1 polyamine modulated factor 1 JBrowse link 1 135,387,760 135,412,907 RGD:9068941
G RAB25 RAB25, member RAS oncogene family JBrowse link 1 135,232,548 135,241,732 RGD:9068941
G RAB7A RAB7A, member RAS oncogene family JBrowse link 3 133,214,246 133,233,403 RGD:9068941
G RIT1 Ras like without CAAX 1 JBrowse link 1 135,062,994 135,075,183 RGD:9068941
G RXFP4 relaxin family peptide/INSL5 receptor 4 JBrowse link 1 135,106,869 135,108,093 RGD:9068941
G SEMA4A semaphorin 4A JBrowse link 1 135,321,147 135,350,724 RGD:9068941
G SF3B3 splicing factor 3b subunit 3 JBrowse link 16 70,361,068 70,409,679 RGD:9068941
G SLC25A44 solute carrier family 25 member 44 JBrowse link 1 135,366,043 135,387,643 RGD:9068941
G SSR2 signal sequence receptor subunit 2 JBrowse link 1 135,179,067 135,190,965 RGD:9068941
G ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 JBrowse link 16 70,218,738 70,240,162 RGD:9068941
G TFG trafficking from ER to golgi regulator JBrowse link 3 104,482,338 104,521,919 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:9068941
G UBQLN4 ubiquilin 4 JBrowse link 1 135,209,490 135,225,666 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 1 10,198,997 10,367,786 RGD:7240710
Charcot-Marie-Tooth Disease Type 2A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 1 11,945,849 11,981,077 RGD:9068941
Charcot-Marie-Tooth disease type 2A2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 1 11,945,849 11,981,077 RGD:7240710
Charcot-Marie-Tooth disease type 2A2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 1 11,945,849 11,981,077 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 3 133,298,753 133,331,883 RGD:9068941
G CFAP92 cilia and flagella associated protein 92 (putative) JBrowse link 3 133,329,303 133,411,383 RGD:9068941
G RAB7A RAB7A, member RAS oncogene family JBrowse link 3 133,214,246 133,233,403 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 1 135,253,700 135,311,542 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 19 55,747,445 55,765,978 RGD:9068941
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 19 55,790,048 55,796,762 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 7 31,329,572 31,368,719 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 1 121,212,161 121,232,876 RGD:7240710
Charcot-Marie-Tooth disease type 2E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEFL neurofilament light JBrowse link 8 21,134,533 21,140,694 RGD:7240710
G PMP22 peripheral myelin protein 22 JBrowse link 17 41,038,286 41,073,872 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 2A 27,399,258 27,412,747 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 1 140,603,609 140,631,273 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 1 140,603,609 140,631,273 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 4 157,142,848 157,505,076 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 9 35,712,937 35,729,588 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 10 61,648,364 61,652,846 RGD:7240710
G GJB1 gap junction protein beta 1 JBrowse link X 70,538,213 70,548,917 RGD:9068941
G MPZ myelin protein zero JBrowse link 1 140,603,609 140,631,273 RGD:7240710
G PMP22 peripheral myelin protein 22 JBrowse link 17 41,038,286 41,073,872 RGD:7240710
G PRX periaxin JBrowse link 19 45,952,420 45,971,987 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 8 132,818,397 132,858,861 RGD:9068941
G DNM1L dynamin 1 like JBrowse link 12 56,077,504 56,142,376 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 102,406,807 102,489,678 RGD:9068941
G FGD4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 12 56,177,209 56,421,662 RGD:9068941
G FIG4 FIG4 phosphoinositide 5-phosphatase JBrowse link 6 111,539,937 111,673,894 RGD:9068941
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 8 72,528,869 72,545,354 RGD:9068941
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 7 82,751,385 82,753,109 RGD:9068941
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 8 131,747,069 132,110,448 RGD:9068941
G KIF1B kinesin family member 1B JBrowse link 1 10,198,997 10,367,786 RGD:9068941
G LRRC6 leucine rich repeat containing 6 JBrowse link 8 132,199,607 132,305,351 RGD:9068941
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 127,245,508 127,297,645 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 1 11,945,849 11,981,077 RGD:9068941
G MORC2 MORC family CW-type zinc finger 2 JBrowse link 22 29,751,768 29,795,632 RGD:9068941
G MTMR2 myotubularin related protein 2 JBrowse link 11 94,367,038 94,457,138 RGD:9068941
G NDRG1 N-myc downstream regulated 1 JBrowse link 8 132,866,245 132,926,514 RGD:9068941
G PHF20L1 PHD finger protein 20 like 1 JBrowse link 8 132,403,053 132,477,338 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,900,881 11,941,308 RGD:9068941
G PRX periaxin JBrowse link 19 45,952,420 45,971,987 RGD:9068941
G SBF1 SET binding factor 1 JBrowse link 22 49,676,131 49,702,479 RGD:9068941
G SBF2 SET binding factor 2 JBrowse link 11 9,639,828 10,154,637 RGD:9068941
G SEPTIN9 septin 9 JBrowse link 17 76,920,236 77,139,586 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 5 150,439,183 150,498,467 RGD:9068941
G SLA Src like adaptor JBrowse link 8 132,666,411 132,732,669 RGD:9068941
G TG thyroglobulin JBrowse link 8 132,495,516 132,764,918 RGD:9068941
G TMEM71 transmembrane protein 71 JBrowse link 8 132,339,621 132,388,442 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 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 8 72,528,869 72,545,354 RGD:7240710
G JPH1 junctophilin 1 JBrowse link 8 72,413,794 72,500,252 RGD:9068941
G LY96 lymphocyte antigen 96 JBrowse link 8 72,169,986 72,207,380 RGD:9068941
G TMEM70 transmembrane protein 70 JBrowse link 8 72,154,872 72,161,500 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 8 72,528,869 72,545,354 RGD:7240710
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 127,245,508 127,297,645 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 11 94,367,038 94,457,138 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 11 9,639,828 10,154,637 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 22 49,676,131 49,702,479 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 5 150,439,183 150,498,467 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 8 132,866,245 132,926,514 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 10 61,648,364 61,652,846 RGD:7240710
G MPZ myelin protein zero JBrowse link 1 140,603,609 140,631,273 RGD:9068941
G SDHC succinate dehydrogenase complex subunit C JBrowse link 1 140,635,250 140,683,390 RGD:9068941
Charcot-Marie-Tooth disease type 4F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRX periaxin JBrowse link 19 45,952,420 45,971,987 RGD:7240710
Charcot-Marie-Tooth disease type 4G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HK1 hexokinase 1 JBrowse link 10 68,289,288 68,401,045 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 12 56,177,209 56,421,662 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 6 111,539,937 111,673,894 RGD:7240710
Charcot-Marie-Tooth disease type 4K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100983451 surfeit locus protein 1 JBrowse link 9 133,085,739 133,088,911 RGD:7240710
Charcot-Marie-Tooth disease type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 102,406,807 102,489,678 RGD:9068941
Charcot-Marie-Tooth disease type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 1 11,945,849 11,981,077 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,900,881 11,941,308 RGD:9068941
Charcot-Marie-Tooth Disease Type 6A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 1 11,945,849 11,981,077 RGD:7240710
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,900,881 11,941,308 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 5 111,907,978 111,935,036 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 129,550,287 129,586,271 RGD:9068941
G GJB1 gap junction protein beta 1 JBrowse link X 70,538,213 70,548,917 RGD:9068941
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 107,094,898 107,117,117 RGD:9068941
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 129,591,231 129,605,214 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 70,538,213 70,548,917 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 24,430,028 24,514,873 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 129,550,287 129,586,271 RGD:7240710
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 129,591,231 129,605,214 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 107,094,898 107,117,117 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 5 142,154,552 142,172,371 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 19 10,974,699 11,107,354 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 1 140,603,609 140,631,273 RGD:9068941
Charcot-Marie-Tooth Disease, Type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 1 11,945,849 11,981,077 RGD:9068941
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SACS sacsin molecular chaperone JBrowse link 13 22,936,013 22,978,366 RGD:7240710
G SGCG sarcoglycan gamma JBrowse link 13 22,767,914 22,932,350 RGD:9068941
childhood spinal muscular atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 102,406,807 102,489,678 RGD:9068941
choreaacanthocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VPS13A vacuolar protein sorting 13 homolog A JBrowse link 9 76,032,292 76,275,155 RGD:7240710
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 18,412,018 18,638,735 RGD:9068941
G HIVEP2 HIVEP zinc finger 2 JBrowse link 6 145,243,271 145,328,852 RGD:9068941
G RS1 retinoschisin 1 JBrowse link X 18,624,687 18,657,315 RGD:9068941
G SLC9A6 solute carrier family 9 member A6 JBrowse link X 135,378,091 135,439,781 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 17 25,333,945 25,358,151 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 47,133,639 47,178,608 RGD:7240710
CK Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NSDHL NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,324,553 152,362,931 RGD:7240710
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCX doublecortin JBrowse link X 110,878,060 110,988,303 RGD:7240710
G MNT MAX network transcriptional repressor JBrowse link 17 2,259,659 2,275,285 RGD:9068941
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 JBrowse link 17 2,589,129 2,680,994 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 19 50,951,674 50,994,600 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 50,897,004 50,915,849 RGD:9068941
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 2B 127,922,483 127,959,372 RGD:9068941
G ERCC5 ERCC excision repair 5, endonuclease JBrowse link 13 103,142,508 103,173,022 RGD:9068941
G ERCC6 ERCC excision repair 6, chromatin remodeling factor RGD:9068941
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 5 54,693,987 54,765,496 RGD:9068941
G GHR growth hormone receptor JBrowse link 5 72,700,150 72,997,356 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 103,385,911 103,463,264 RGD:9068941
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 5 54,484,800 54,693,930 RGD:9068941
G XPA XPA, DNA damage recognition and repair factor JBrowse link 9 96,866,303 96,909,260 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 5 54,693,987 54,765,496 RGD:7240710
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 5 54,484,800 54,693,930 RGD:9068941
Cockayne Syndrome B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC6 ERCC excision repair 6, chromatin remodeling factor 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 20,131,474 20,251,244 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 13 95,975,607 96,114,256 RGD:7240710
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 JBrowse link 1 66,389,807 66,550,886 RGD:9068941
combined saposin deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDH23 cadherin related 23 JBrowse link 10 70,391,661 70,810,240 RGD:9068941
G PSAP prosaposin JBrowse link 10 70,810,591 70,845,593 RGD:7240710
congenital vertical talus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXD10 homeobox D10 JBrowse link 2B 181,104,876 181,108,942 RGD:7240710
Copper-Overload Cirrhosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTA2 actin alpha 2, smooth muscle JBrowse link 10 89,164,344 89,182,131 RGD:9068941
G CASP3 caspase 3 JBrowse link 4 189,018,422 189,040,217 RGD:9068941
G COMMD1 copper metabolism domain containing 1 JBrowse link 2A 63,121,490 63,349,256 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 7 87,325,741 87,396,850 RGD:9068941
G KRT19 keratin 19 JBrowse link 17 16,006,608 16,010,782 RGD:9068941
G KRT7 keratin 7 JBrowse link 12 37,291,244 37,307,300 RGD:9068941
G MET MET proto-oncogene, receptor tyrosine kinase JBrowse link 7 121,365,429 121,468,159 RGD:9068941
G MKI67 marker of proliferation Ki-67 JBrowse link 10 128,933,508 128,963,280 RGD:9068941
G SMAD2 SMAD family member 2 JBrowse link 18 44,572,213 44,669,008 RGD:9068941
G STAT3 signal transducer and activator of transcription 3 JBrowse link 17 15,152,358 15,227,084 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 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 69,460,736 69,493,616 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 13,975,765 14,301,636 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 153,162,412 153,182,424 RGD:9068941
G BCAP31 B cell receptor associated protein 31 RGD:9068941
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma JBrowse link X 153,222,309 153,231,135 RGD:9068941
G L1CAM L1 cell adhesion molecule JBrowse link X 153,298,690 153,324,228 RGD:9068941
G LOC100975352 sodium- and chloride-dependent creatine transporter 1 JBrowse link X 153,126,415 153,132,917 RGD:7240710
G PDZD4 PDZ domain containing 4 JBrowse link X 153,240,182 153,267,880 RGD:9068941
G PLXNB3 plexin B3 JBrowse link X 153,200,971 153,215,909 RGD:9068941
G SRPK3 SRSF protein kinase 3 JBrowse link X 153,217,064 153,222,305 RGD:9068941
G SSR4 signal sequence receptor subunit 4 JBrowse link X 153,230,137 153,235,124 RGD:9068941
Danon disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKAP14 A-kinase anchoring protein 14 JBrowse link X 119,355,712 119,380,449 RGD:9068941
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 JBrowse link X 119,820,695 119,841,598 RGD:9068941
G LAMP2 lysosomal associated membrane protein 2 JBrowse link X 119,886,982 119,929,896 RGD:7240710
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 JBrowse link X 119,330,105 119,334,963 RGD:9068941
G NKAP NFKB activating protein JBrowse link X 119,384,489 119,402,943 RGD:9068941
G RHOXF1 Rhox homeobox family member 1 RGD:9068941
G RNF113A ring finger protein 113A JBrowse link X 119,328,861 119,330,150 RGD:9068941
G TMEM255A transmembrane protein 255A JBrowse link X 119,718,047 119,770,580 RGD:9068941
G UPF3B UPF3B regulator of nonsense mediated mRNA decay JBrowse link X 119,292,231 119,311,632 RGD:9068941
G ZBTB33 zinc finger and BTB domain containing 33 JBrowse link X 119,710,140 119,717,795 RGD:9068941
deafness-intellectual disability, Martin-Probst type syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB40AL RAB40A like JBrowse link X 102,373,795 102,511,608 RGD:7240710
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATN1 atrophin 1 JBrowse link 12 6,978,414 6,986,944 RGD:7240710
distal hereditary motor neuronopathy type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HSPB8 heat shock protein family B (small) member 8 JBrowse link 12 120,136,986 120,153,102 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 2A 110,041,114 110,128,383 RGD:9068941
G EDAR ectodysplasin A receptor JBrowse link 2A 110,146,499 110,241,556 RGD:9068941
G GCC2 GRIP and coiled-coil domain containing 2 JBrowse link 2A 109,682,051 109,735,166 RGD:9068941
G LIMS1 LIM zinc finger domain containing 1 JBrowse link 2A 109,847,189 109,890,827 RGD:9068941
G LOC100989340 E3 SUMO-protein ligase RanBP2 JBrowse link 2A 110,010,961 110,039,769 RGD:9068941
G SLC5A7 solute carrier family 5 member 7 JBrowse link 2A 109,018,073 109,045,292 RGD:7240710
G SULT1C2 sulfotransferase family 1C member 2 JBrowse link 2A 109,572,466 109,592,866 RGD:9068941
G SULT1C4 sulfotransferase family 1C member 4 JBrowse link 2A 109,612,337 109,623,365 RGD:9068941
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCTN1 dynactin subunit 1 JBrowse link 2A 75,934,408 75,965,012 RGD:7240710
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 102,406,807 102,489,678 RGD:9068941
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 7 31,329,572 31,368,719 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 1 11,945,849 11,981,077 RGD:9068941
G MPZ myelin protein zero JBrowse link 1 140,603,609 140,631,273 RGD:9068941
G NEFL neurofilament light JBrowse link 8 21,134,533 21,140,694 RGD:9068941
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 1 6,481,341 6,511,652 RGD:9068941
G SCN11A sodium voltage-gated channel alpha subunit 11 JBrowse link 3 39,024,090 39,131,293 RGD:9068941
G SETX senataxin JBrowse link 9 132,016,513 132,109,665 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 5 150,439,183 150,498,467 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 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 3 201,207,609 201,312,358 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 18,151,214 18,208,992 RGD:9068941
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 18,412,018 18,638,735 RGD:7240710
RGD:9068941
G NHS NHS actin remodeling regulator JBrowse link X 17,357,898 17,728,178 RGD:9068941
G RAI2 retinoic acid induced 2 JBrowse link X 17,791,701 17,936,223 RGD:9068941
G RS1 retinoschisin 1 JBrowse link X 18,624,687 18,657,315 RGD:9068941
G SCML1 Scm polycomb group protein like 1 JBrowse link X 17,729,625 17,747,182 RGD:9068941
G SCML2 Scm polycomb group protein like 2 JBrowse link X 18,228,712 18,344,155 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 2B 176,532,940 176,755,193 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 2B 156,373,888 156,639,471 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 5 78,960,797 79,042,694 RGD:7240710
essential tremor 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HS1BP3 HCLS1 binding protein 3 JBrowse link 2A 20,718,953 20,752,038 RGD:7240710
Familial Amyloid Polyneuropathies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APOA1 apolipoprotein A1 JBrowse link 11 115,606,136 115,608,335 RGD:9068941
G F10 coagulation factor X JBrowse link 13 113,332,124 113,358,660 RGD:9068941
G F2 coagulation factor II, thrombin JBrowse link 11 47,227,891 47,249,157 RGD:9068941
G MYBPC3 myosin binding protein C3 JBrowse link 11 47,830,605 47,851,909 RGD:9068941
G PKP2 plakophilin 2 JBrowse link 12 55,925,514 56,030,996 RGD:9068941
G TNNI3 troponin I3, cardiac type JBrowse link 19 60,887,630 60,892,875 RGD:9068941
G TTR transthyretin JBrowse link 18 28,407,893 28,414,960 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 3 172,760,923 172,811,900 RGD:9068941
G SERPINB7 serpin family B member 7 JBrowse link 18 60,423,119 60,475,171 RGD:9068941
G SERPINI1 serpin family I member 1 JBrowse link 3 172,812,348 172,902,372 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 19 13,506,232 13,804,815 RGD:7240710
FG syndrome term browser