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ONTOLOGY REPORT - ANNOTATIONS


Term:motor peripheral neuropathy
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Accession:DOID:2477 term browser browse the term
Definition:A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
Synonyms:exact_synonym: HMSN;   HMSN Type VII;   HSMN;   HSMN - Hereditary sensory and motor neuropathy;   Herditary Sensory and Motor Neuropathy;   Hereditary Motor and Sensory Neuropathies;   Hereditary Sensory and Motor Neuropathy;   Hereditary, Type VII, Motor and Sensory Neuropathy;   neuropathic muscular atrophy
 narrow_synonym: SENSORY NEUROPATHY WITH SPASTIC PARAPLEGIA
 primary_id: MESH:D015417
 alt_id: RDO:0000988
For additional species annotation, visit the Alliance of Genome Resources.


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motor peripheral neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AMACR alpha-methylacyl-CoA racemase JBrowse link 5 33,986,165 34,008,050 RGD:11554173
G CCT5 chaperonin containing TCP1 subunit 5 JBrowse link 5 10,249,921 10,266,412 RGD:8554872
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 101,964,573 102,056,443 RGD:8554872
G EGR2 early growth response 2 JBrowse link 10 62,811,996 62,819,167 RGD:1601014
RGD:11554173
RGD:1601012
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:8554872
G MPZ myelin protein zero JBrowse link 1 161,303,594 161,309,969 RGD:11554173
G MYH14 myosin heavy chain 14 JBrowse link 19 50,188,186 50,310,544 RGD:8554872
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,934,717 11,975,537 RGD:8554872
G PMP22 peripheral myelin protein 22 JBrowse link 17 15,229,777 15,265,326 RGD:11554173
G PRX periaxin JBrowse link 19 40,393,762 40,414,718 RGD:11554173
G RFC1 replication factor C subunit 1 JBrowse link 4 39,287,456 39,366,381 RGD:11554173
G SLC12A6 solute carrier family 12 member 6 JBrowse link 15 34,229,784 34,338,057 RGD:13592920
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 45,527,427 45,584,802 RGD:8554872
RGD:7240710
Adult Refsum Disease, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PEX7 peroxisomal biogenesis factor 7 JBrowse link 6 136,821,683 136,913,934 RGD:8554872
G PHYH phytanoyl-CoA 2-hydroxylase JBrowse link 10 13,277,796 13,300,130 RGD:8554872
Alstrom syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALMS1 ALMS1 centrosome and basal body associated protein JBrowse link 2 73,385,758 73,609,919 RGD:1601169
RGD:8554872
RGD:11554173
RGD:7240710
RGD:8696018
RGD:8696016
RGD:8696015
RGD:8696013
Charcot-Marie-Tooth disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS1 alanyl-tRNA synthetase 1 JBrowse link 16 70,252,295 70,289,509 RGD:8554872
G ARF1 ADP ribosylation factor 1 JBrowse link 1 228,082,660 228,099,212 RGD:8554872
G ARHGEF10 Rho guanine nucleotide exchange factor 10 JBrowse link 8 1,823,926 1,958,641 RGD:8554872
G ATL1 atlastin GTPase 1 JBrowse link 14 50,533,082 50,633,068 RGD:8554872
G ATP7A ATPase copper transporting alpha JBrowse link X 77,910,656 78,050,395 RGD:8554872
G BAG3 BAG cochaperone 3 JBrowse link 10 119,651,380 119,677,819 RGD:8554872
G BICD2 BICD cargo adaptor 2 JBrowse link 9 92,711,363 92,764,841 RGD:8554872
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 11 62,690,262 62,709,619 RGD:8554872
G CNTNAP2 contactin associated protein 2 JBrowse link 7 146,116,207 148,420,998 RGD:8554872
G CTDP1 CTD phosphatase subunit 1 JBrowse link 18 79,679,803 79,756,625 RGD:8554872
G DCTN1 dynactin subunit 1 JBrowse link 2 74,361,154 74,392,087 RGD:8554872
G DCTN2 dynactin subunit 2 JBrowse link 12 57,530,050 57,547,331 RGD:8554872
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 2 219,279,366 219,286,895 RGD:8554872
G DNM2 dynamin 2 JBrowse link 19 10,718,053 10,831,910 RGD:8554872
G DNMT1 DNA methyltransferase 1 JBrowse link 19 10,133,346 10,194,953 RGD:8554872
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 101,964,573 102,056,443 RGD:8554872
G EGR2 early growth response 2 JBrowse link 10 62,811,996 62,819,167 RGD:8554872
G ELP1 elongator complex protein 1 JBrowse link 9 108,867,517 108,934,135 RGD:8554872
G FGD4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 12 32,399,523 32,646,050 RGD:8554872
G FIG4 FIG4 phosphoinositide 5-phosphatase JBrowse link 6 109,691,296 109,825,431 RGD:11554173
RGD:8554872
G GAN gigaxonin JBrowse link 16 81,314,941 81,380,198 RGD:8554872
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 7 30,594,735 30,634,033 RGD:8554872
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 8 74,350,383 74,488,872 RGD:12738398
RGD:8554872
G GJB1 gap junction protein beta 1 JBrowse link X 71,215,212 71,225,516 RGD:8554872
G GSTT2 glutathione S-transferase theta 2 (gene/pseudogene) JBrowse link 22 23,980,134 23,983,915 RGD:9686084
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta JBrowse link 2 26,244,748 26,290,465 RGD:8554872
G HINT1 histidine triad nucleotide binding protein 1 JBrowse link 5 131,159,027 131,165,348 RGD:8554872
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) JBrowse link 11 62,690,262 62,727,384 RGD:8554872
G HOXD10 homeobox D10 JBrowse link 2 176,116,778 176,119,937 RGD:11554173
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 7 76,302,673 76,304,292 RGD:8554872
G HSPB8 heat shock protein family B (small) member 8 JBrowse link 12 119,178,931 119,194,746 RGD:8554872
G IFRD1 interferon related developmental regulator 1 JBrowse link 7 112,423,144 112,477,203 RGD:8554872
G IGHMBP2 immunoglobulin mu DNA binding protein 2 JBrowse link 11 68,903,855 68,940,601 RGD:8554872
G INF2 inverted formin, FH2 and WH2 domain containing JBrowse link 14 104,689,606 104,722,535 RGD:8554872
G KARS1 lysyl-tRNA synthetase 1 JBrowse link 16 75,627,724 75,647,687 RGD:8554872
G KIF1B kinesin family member 1B JBrowse link 1 10,210,570 10,381,603 RGD:8554872
G LAMA2 laminin subunit alpha 2 JBrowse link 6 128,883,138 129,516,566 RGD:8554872
G LITAF lipopolysaccharide induced TNF factor JBrowse link 16 11,547,722 11,636,377 RGD:8554872
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:8554872
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 127,451,486 127,503,501 RGD:8554872
RGD:11554173
G MARS1 methionyl-tRNA synthetase 1 JBrowse link 12 57,488,068 57,516,655 RGD:8554872
G MED25 mediator complex subunit 25 JBrowse link 19 49,818,279 49,840,384 RGD:8554872
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:8554872
G MORC2 MORC family CW-type zinc finger 2 JBrowse link 22 30,925,130 30,968,774 RGD:11554173
RGD:8554872
G MPZ myelin protein zero JBrowse link 1 161,303,594 161,309,969 RGD:1358513
RGD:8554872
RGD:7240710
G MT-ATP6 mitochondrially encoded ATP synthase 6 JBrowse link MT 8,527 9,207 RGD:8554872
G MTMR2 myotubularin related protein 2 JBrowse link 11 95,832,880 95,924,110 RGD:8554872
G MYH14 myosin heavy chain 14 JBrowse link 19 50,188,186 50,310,544 RGD:8554872
G NDRG1 N-myc downstream regulated 1 JBrowse link 8 133,237,175 133,297,252 RGD:8554872
G NEFL neurofilament light JBrowse link 8 24,950,955 24,956,612 RGD:1358514
RGD:8554872
G NGF nerve growth factor JBrowse link 1 115,285,915 115,338,253 RGD:8554872
G NGF-AS1 NGF antisense RNA 1 JBrowse link 1 115,283,034 115,368,072 RGD:8554872
G NRG1 neuregulin 1 JBrowse link 8 31,639,245 32,774,046 RGD:10449027
G NTRK1 neurotrophic receptor tyrosine kinase 1 JBrowse link 1 156,815,750 156,881,850 RGD:8554872
G NTRK2 neurotrophic receptor tyrosine kinase 2 JBrowse link 9 84,668,458 85,027,070 RGD:5684901
G PMP22 peripheral myelin protein 22 JBrowse link 17 15,229,777 15,265,326 RGD:1358786
RGD:8554872
RGD:2312445
RGD:11554173
RGD:7240710
RGD:1358560
G POLR2F RNA polymerase II subunit F JBrowse link 22 37,953,663 38,041,915 RGD:8554872
G PRX periaxin JBrowse link 19 40,393,762 40,414,718 RGD:8554872
G RAB7A RAB7A, member RAS oncogene family JBrowse link 3 128,726,183 128,814,798 RGD:8554872
G REEP1 receptor accessory protein 1 JBrowse link 2 86,213,993 86,338,083 RGD:8554872
G RETREG1 reticulophagy regulator 1 JBrowse link 5 16,473,038 16,617,096 RGD:8554872
G SBF1 SET binding factor 1 JBrowse link 22 50,445,000 50,475,035 RGD:8554872
G SBF2 SET binding factor 2 JBrowse link 11 9,778,667 10,294,207 RGD:8554872
G SBF2-AS1 SBF2 antisense RNA 1 JBrowse link 11 9,758,293 9,811,319 RGD:8554872
G SCN11A sodium voltage-gated channel alpha subunit 11 JBrowse link 3 38,845,764 39,051,944 RGD:8554872
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 JBrowse link 2 166,081,531 166,301,784 RGD:8554872
G SCN9A sodium voltage-gated channel alpha subunit 9 JBrowse link 2 166,195,185 166,375,987 RGD:8554872
G SDHC succinate dehydrogenase complex subunit C JBrowse link 1 161,314,381 161,375,340 RGD:8554872
G SEMA5A semaphorin 5A JBrowse link 5 9,035,030 9,546,121 RGD:8554872
G SEPTIN9 septin 9 JBrowse link 17 77,281,499 77,500,596 RGD:8554872
G SETX senataxin JBrowse link 9 132,261,356 132,356,726 RGD:8554872
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 5 148,982,150 149,063,062 RGD:8554872
G SLC12A6 solute carrier family 12 member 6 JBrowse link 15 34,229,784 34,338,057 RGD:8554872
G SLC25A46 solute carrier family 25 member 46 JBrowse link 5 110,738,145 110,765,157 RGD:11554173
G SLC5A7 solute carrier family 5 member 7 JBrowse link 2 107,986,524 108,014,497 RGD:8554872
G SOX10 SRY-box transcription factor 10 JBrowse link 22 37,972,312 37,984,555 RGD:8554872
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 JBrowse link 9 92,031,141 92,115,413 RGD:8554872
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 JBrowse link 14 77,505,997 77,616,767 RGD:8554872
G TNFRSF11B TNF receptor superfamily member 11b JBrowse link 8 118,923,557 118,951,885 RGD:7205513
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 109,783,087 109,833,398 RGD:11554173
RGD:8554872
G WNK1 WNK lysine deficient protein kinase 1 JBrowse link 12 752,579 911,452 RGD:8554872
G YARS1 tyrosyl-tRNA synthetase 1 JBrowse link 1 32,775,238 32,818,032 RGD:8554872
Charcot-Marie-Tooth disease axonal type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 8 74,350,383 74,488,872 RGD:12738395
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 109,783,087 109,833,398 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2CC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEFH neurofilament heavy JBrowse link 22 29,480,218 29,491,390 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease axonal type 2F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 7 76,302,673 76,304,292 RGD:8554872
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 73,945,119 73,972,287 RGD:8554872
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 8 74,350,383 74,488,872 RGD:12738396
RGD:8554872
RGD:7240710
RGD:12738397
G JPH1 junctophilin 1 JBrowse link 8 74,234,700 74,321,540 RGD:7240710
RGD:8554872
G LINC01617 long intergenic non-protein coding RNA 1617 JBrowse link 8 73,878,982 73,883,074 RGD:8554872
G LY96 lymphocyte antigen 96 JBrowse link 8 73,991,275 74,099,807 RGD:8554872
G TMEM70 transmembrane protein 70 JBrowse link 8 73,976,142 73,982,783 RGD:8554872
G UBE2W ubiquitin conjugating enzyme E2 W JBrowse link 8 73,780,096 73,878,862 RGD:8554872
Charcot-Marie-Tooth disease axonal type 2L term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HSPB8 heat shock protein family B (small) member 8 JBrowse link 12 119,178,931 119,194,746 RGD:8554872
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 70,252,295 70,289,509 RGD:8554872
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 14 101,964,573 102,056,443 RGD:8554872
RGD:7240710
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma JBrowse link 14 101,760,573 101,927,992 RGD:8554872
Charcot-Marie-Tooth disease axonal type 2P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 127,451,486 127,503,501 RGD:8554872
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 12,068,954 12,123,221 RGD:8554872
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 68,903,855 68,940,601 RGD:8554872
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 2 219,279,366 219,286,895 RGD:8554872
G MME membrane metalloendopeptidase JBrowse link 3 155,024,124 155,183,729 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease axonal type 2U term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MARS1 methionyl-tRNA synthetase 1 JBrowse link 12 57,488,068 57,516,655 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease axonal type 2V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:8554872
G NAGLU N-acetyl-alpha-glucosaminidase JBrowse link 17 42,534,238 42,544,449 RGD:8554872
RGD:7240710
G NEFL neurofilament light JBrowse link 8 24,950,955 24,956,612 RGD:8554872
Charcot-Marie-Tooth disease axonal type 2X term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPG11 SPG11 vesicle trafficking associated, spatacsin JBrowse link 15 44,562,696 44,663,678 RGD:8554872
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 30,925,130 30,968,774 RGD:8554872
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 10,718,053 10,831,910 RGD:8554872
RGD:7240710
G MIR4748 microRNA 4748 JBrowse link 19 10,780,254 10,780,335 RGD:8554872
G MIR638 microRNA 638 JBrowse link 19 10,718,404 10,718,503 RGD:8554872
G MIR6793 microRNA 6793 JBrowse link 19 10,828,973 10,829,035 RGD:8554872
Charcot-Marie-Tooth disease dominant intermediate C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A3GALT2 alpha 1,3-galactosyltransferase 2 JBrowse link 1 33,306,766 33,321,098 RGD:8554872
G ADPRS ADP-ribosylserine hydrolase JBrowse link 1 36,088,885 36,093,932 RGD:8554872
G AGO1 argonaute RISC component 1 JBrowse link 1 35,869,808 35,930,532 RGD:8554872
G AGO3 argonaute RISC catalytic component 3 JBrowse link 1 35,925,683 36,072,500 RGD:8554872
G AGO4 argonaute RISC component 4 JBrowse link 1 35,807,630 35,857,890 RGD:8554872
G AK2 adenylate kinase 2 JBrowse link 1 33,007,940 33,036,911 RGD:8554872
G AKIRIN1 akirin 1 JBrowse link 1 38,991,244 39,006,065 RGD:8554872
G AKR1A1 aldo-keto reductase family 1 member A1 JBrowse link 1 45,550,779 45,570,051 RGD:8554872
G ARMH1 armadillo like helical domain containing 1 JBrowse link 1 44,674,696 44,725,591 RGD:8554872
G ARTN artemin JBrowse link 1 43,933,320 43,937,240 RGD:8554872
G ATP6V0B ATPase H+ transporting V0 subunit b JBrowse link 1 43,974,960 43,978,295 RGD:8554872
G AZIN2 antizyme inhibitor 2 JBrowse link 1 33,081,152 33,162,288 RGD:8554872
G B4GALT2 beta-1,4-galactosyltransferase 2 JBrowse link 1 43,979,202 43,991,171 RGD:8554872
G BEST4 bestrophin 4 JBrowse link 1 44,782,145 44,792,828 RGD:8554872
G BMP8A bone morphogenetic protein 8a JBrowse link 1 39,491,626 39,529,869 RGD:8554872
G BMP8B bone morphogenetic protein 8b JBrowse link 1 39,757,182 39,788,865 RGD:8554872
G BTBD19 BTB domain containing 19 JBrowse link 1 44,807,442 44,814,199 RGD:8554872
G C1orf109 chromosome 1 open reading frame 109 JBrowse link 1 37,681,570 37,692,336 RGD:8554872
G C1orf122 chromosome 1 open reading frame 122 JBrowse link 1 37,807,790 37,809,454 RGD:8554872
G C1orf210 chromosome 1 open reading frame 210 JBrowse link 1 43,281,877 43,285,840 RGD:8554872
G C1orf216 chromosome 1 open reading frame 216 JBrowse link 1 35,713,876 35,718,884 RGD:8554872
G C1orf50 chromosome 1 open reading frame 50 JBrowse link 1 42,767,249 42,779,491 RGD:8554872
G C1orf94 chromosome 1 open reading frame 94 JBrowse link 1 34,166,993 34,219,131 RGD:8554872
G CAP1 cyclase associated actin cytoskeleton regulatory protein 1 JBrowse link 1 40,040,065 40,072,649 RGD:8554872
G CCDC17 coiled-coil domain containing 17 JBrowse link 1 45,620,044 45,624,787 RGD:8554872
G CCDC24 coiled-coil domain containing 24 JBrowse link 1 43,991,596 43,996,528 RGD:8554872
G CCDC30 coiled-coil domain containing 30 JBrowse link 1 42,456,107 42,657,190 RGD:8554872
G CDC20 cell division cycle 20 JBrowse link 1 43,358,981 43,363,203 RGD:8554872
G CDCA8 cell division cycle associated 8 JBrowse link 1 37,692,516 37,709,719 RGD:8554872
G CFAP57 cilia and flagella associated protein 57 JBrowse link 1 43,172,330 43,254,358 RGD:8554872
G CITED4 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 JBrowse link 1 40,861,054 40,862,363 RGD:8554872
G CLDN19 claudin 19 JBrowse link 1 42,733,093 42,740,254 RGD:8554872
G CLSPN claspin JBrowse link 1 35,720,213 35,769,985 RGD:8554872
G COL8A2 collagen type VIII alpha 2 chain JBrowse link 1 36,095,239 36,126,207 RGD:8554872
G COL9A2 collagen type IX alpha 2 chain JBrowse link 1 40,300,487 40,317,653 RGD:8554872
G CSF3R colony stimulating factor 3 receptor JBrowse link 1 36,466,043 36,483,314 RGD:8554872
G CSMD2 CUB and Sushi multiple domains 2 JBrowse link 1 33,513,999 34,165,842 RGD:8554872
G CTPS1 CTP synthase 1 JBrowse link 1 40,979,696 41,012,565 RGD:8554872
G DLGAP3 DLG associated protein 3 JBrowse link 1 34,862,120 34,929,650 RGD:8554872
G DMAP1 DNA methyltransferase 1 associated protein 1 JBrowse link 1 44,213,471 44,220,673 RGD:8554872
G DNALI1 dynein axonemal light intermediate chain 1 JBrowse link 1 37,556,940 37,566,857 RGD:8554872
G DPH2 diphthamide biosynthesis 2 JBrowse link 1 43,969,997 43,973,369 RGD:8554872
G EBNA1BP2 EBNA1 binding protein 2 JBrowse link 1 43,164,174 43,172,570 RGD:8554872
G EDN2 endothelin 2 JBrowse link 1 41,478,775 41,484,699 RGD:8554872
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma JBrowse link 1 44,850,522 44,986,722 RGD:8554872
G ELOVL1 ELOVL fatty acid elongase 1 JBrowse link 1 43,363,397 43,368,074 RGD:8554872
G EPHA10 EPH receptor A10 JBrowse link 1 37,713,888 37,765,152 RGD:8554872
G ERI3 ERI1 exoribonuclease family member 3 JBrowse link 1 44,221,070 44,355,298 RGD:8554872
G ERMAP erythroblast membrane associated protein (Scianna blood group) JBrowse link 1 42,817,122 42,844,991 RGD:8554872
G EVA1B eva-1 homolog B JBrowse link 1 36,322,030 36,324,154 RGD:8554872
G EXO5 exonuclease 5 JBrowse link 1 40,508,719 40,516,050 RGD:8554872
G FAM183A family with sequence similarity 183 member A JBrowse link 1 43,142,959 43,156,396 RGD:8554872
G FHL3 four and a half LIM domains 3 JBrowse link 1 37,996,765 38,005,691 RGD:8554872
G FNDC5 fibronectin type III domain containing 5 JBrowse link 1 32,862,268 32,872,484 RGD:8554872
G FOXJ3 forkhead box J3 JBrowse link 1 42,176,539 42,336,805 RGD:8554872
G FOXO6 forkhead box O6 JBrowse link 1 41,361,434 41,383,590 RGD:8554872
G GJA4 gap junction protein alpha 4 JBrowse link 1 34,792,958 34,795,747 RGD:8554872
G GJA9 gap junction protein alpha 9 JBrowse link 1 38,874,069 38,881,587 RGD:8554872
G GJB3 gap junction protein beta 3 JBrowse link 1 34,781,214 34,786,364 RGD:8554872
G GJB4 gap junction protein beta 4 JBrowse link 1 34,759,740 34,762,327 RGD:8554872
G GJB5 gap junction protein beta 5 JBrowse link 1 34,754,777 34,758,513 RGD:8554872
G GNL2 G protein nucleolar 2 JBrowse link 1 37,566,812 37,595,985 RGD:8554872
G GPBP1L1 GC-rich promoter binding protein 1 like 1 JBrowse link 1 45,627,304 45,688,110 RGD:8554872
G GRIK3 glutamate ionotropic receptor kainate type subunit 3 JBrowse link 1 36,795,527 37,034,515 RGD:8554872
G GUCA2A guanylate cyclase activator 2A JBrowse link 1 42,162,690 42,164,745 RGD:8554872
G GUCA2B guanylate cyclase activator 2B JBrowse link 1 42,153,410 42,155,820 RGD:8554872
G HECTD3 HECT domain E3 ubiquitin protein ligase 3 JBrowse link 1 45,002,547 45,011,324 RGD:8554872
G HEYL hes related family bHLH transcription factor with YRPW motif like JBrowse link 1 39,623,435 39,639,643 RGD:8554872
G HIVEP3 HIVEP zinc finger 3 JBrowse link 1 41,506,365 42,035,934 RGD:8554872
G HMGB4 high mobility group box 4 JBrowse link 1 33,860,475 33,864,791 RGD:8554872
G HPCA hippocalcin JBrowse link 1 32,885,965 32,894,646 RGD:8554872
G HPCAL4 hippocalcin like 4 JBrowse link 1 39,678,648 39,691,485 RGD:8554872
G HPDL 4-hydroxyphenylpyruvate dioxygenase like JBrowse link 1 45,326,895 45,328,679 RGD:8554872
G HYI hydroxypyruvate isomerase (putative) JBrowse link 1 43,450,607 43,454,241 RGD:8554872
G INPP5B inositol polyphosphate-5-phosphatase B JBrowse link 1 37,860,697 37,947,095 RGD:8554872
G IPO13 importin 13 JBrowse link 1 43,946,852 43,968,022 RGD:8554872
G IPP intracisternal A particle-promoted polypeptide JBrowse link 1 45,694,324 45,750,813 RGD:8554872
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 1 40,783,787 40,840,457 RGD:8554872
G KDM4A lysine demethylase 4A JBrowse link 1 43,650,149 43,705,518 RGD:8554872
G KIAA0319L KIAA0319 like JBrowse link 1 35,433,490 35,557,603 RGD:8554872
G KIAA0754 KIAA0754 JBrowse link 1 39,409,073 39,416,482 RGD:8554872
G KIF2C kinesin family member 2C JBrowse link 1 44,739,704 44,767,767 RGD:8554872
G KLF17 Kruppel like factor 17 JBrowse link 1 44,043,927 44,135,140 RGD:8554872
G LSM10 LSM10, U7 small nuclear RNA associated JBrowse link 1 36,393,436 36,397,908 RGD:8554872
G MACF1 microtubule actin crosslinking factor 1 JBrowse link 1 39,084,167 39,487,138 RGD:8554872
G MANEAL mannosidase endo-alpha like JBrowse link 1 37,793,816 37,801,606 RGD:8554872
G MAP7D1 MAP7 domain containing 1 JBrowse link 1 36,156,150 36,180,849 RGD:8554872
G MAST2 microtubule associated serine/threonine kinase 2 JBrowse link 1 45,786,992 46,036,124 RGD:8554872
G MEAF6 MYST/Esa1 associated factor 6 JBrowse link 1 37,489,960 37,514,766 RGD:8554872
G MED8 mediator complex subunit 8 JBrowse link 1 43,383,917 43,389,800 RGD:8554872
G MFSD2A major facilitator superfamily domain containing 2A JBrowse link 1 39,955,112 39,969,968 RGD:8554872
G MIR30C1 microRNA 30c-1 JBrowse link 1 40,757,284 40,757,372 RGD:8554872
G MMACHC metabolism of cobalamin associated C JBrowse link 1 45,500,229 45,513,382 RGD:8554872
G MPL MPL proto-oncogene, thrombopoietin receptor JBrowse link 1 43,336,875 43,354,466 RGD:8554872
G MRPS15 mitochondrial ribosomal protein S15 JBrowse link 1 36,455,718 36,464,384 RGD:8554872
G MTF1 metal regulatory transcription factor 1 JBrowse link 1 37,809,570 37,859,614 RGD:8554872
G MUTYH mutY DNA glycosylase JBrowse link 1 45,329,242 45,340,470 RGD:8554872
G MYCBP MYC binding protein JBrowse link 1 38,862,490 38,873,378 RGD:8554872
G MYCL MYCL proto-oncogene, bHLH transcription factor JBrowse link 1 39,895,428 39,901,917 RGD:8554872
G NASP nuclear autoantigenic sperm protein JBrowse link 1 45,583,988 45,618,906 RGD:8554872
G NCDN neurochondrin JBrowse link 1 35,557,792 35,566,779 RGD:8554872
G NDUFS5 NADH:ubiquinone oxidoreductase subunit S5 JBrowse link 1 39,026,295 39,034,636 RGD:8554872
G NFYC nuclear transcription factor Y subunit gamma JBrowse link 1 40,691,699 40,771,603 RGD:8554872
G NT5C1A 5'-nucleotidase, cytosolic IA JBrowse link 1 39,659,121 39,672,038 RGD:8554872
G OSCP1 organic solute carrier partner 1 JBrowse link 1 36,417,906 36,450,485 RGD:8554872
G OXCT2 3-oxoacid CoA-transferase 2 JBrowse link 1 39,769,523 39,771,348 RGD:8554872
G P3H1 prolyl 3-hydroxylase 1 JBrowse link 1 42,746,335 42,767,084 RGD:8554872
G PABPC4 poly(A) binding protein cytoplasmic 4 JBrowse link 1 39,560,816 39,576,790 RGD:8554872
G PABPC4-AS1 PABPC4 antisense RNA 1 JBrowse link 1 39,565,070 39,573,203 RGD:8554872
G PHC2 polyhomeotic homolog 2 JBrowse link 1 33,323,623 33,375,593 RGD:8554872
G PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 JBrowse link 1 46,040,140 46,174,901 RGD:8554872
G PLK3 polo like kinase 3 JBrowse link 1 44,799,952 44,805,995 RGD:8554872
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 1 46,188,681 46,220,305 RGD:8554872
G POU3F1 POU class 3 homeobox 1 JBrowse link 1 38,043,829 38,046,793 RGD:8554872
G PPCS phosphopantothenoylcysteine synthetase JBrowse link 1 42,456,341 42,473,381 RGD:8554872
G PPIE peptidylprolyl isomerase E JBrowse link 1 39,738,845 39,765,698 RGD:8554872
G PPIH peptidylprolyl isomerase H JBrowse link 1 42,657,770 42,681,654 RGD:8554872
G PPT1 palmitoyl-protein thioesterase 1 JBrowse link 1 40,071,461 40,097,252 RGD:8554872
G PRDX1 peroxiredoxin 1 JBrowse link 1 45,511,035 45,522,890 RGD:8554872
G PSMB2 proteasome 20S subunit beta 2 JBrowse link 1 35,599,541 35,641,526 RGD:8554872
G PTCH2 patched 2 JBrowse link 1 44,819,844 44,843,253 RGD:8554872
G PTPRF protein tyrosine phosphatase receptor type F JBrowse link 1 43,522,238 43,623,672 RGD:8554872
G RHBDL2 rhomboid like 2 JBrowse link 1 38,885,807 38,941,830 RGD:8554872
G RIMKLA ribosomal modification protein rimK like family member A JBrowse link 1 42,380,792 42,425,813 RGD:8554872
G RIMS3 regulating synaptic membrane exocytosis 3 JBrowse link 1 40,620,680 40,692,104 RGD:8554872
G RLF RLF zinc finger JBrowse link 1 40,161,387 40,240,921 RGD:8554872
G RNF19B ring finger protein 19B JBrowse link 1 32,932,498 32,965,266 RGD:8554872
G RNF220 ring finger protein 220 JBrowse link 1 44,405,160 44,651,724 RGD:8554872
G RPS8 ribosomal protein S8 JBrowse link 1 44,775,540 44,778,779 RGD:8554872
G RRAGC Ras related GTP binding C JBrowse link 1 38,838,198 38,859,772 RGD:8554872
G RSPO1 R-spondin 1 JBrowse link 1 37,611,350 37,634,906 RGD:8554872
G S100PBP S100P binding protein JBrowse link 1 32,816,767 32,858,879 RGD:8554872
G SCMH1 Scm polycomb group protein homolog 1 JBrowse link 1 41,027,199 41,242,306 RGD:8554872
G SF3A3 splicing factor 3a subunit 3 JBrowse link 1 37,956,975 37,990,022 RGD:8554872
G SFPQ splicing factor proline and glutamine rich JBrowse link 1 35,176,378 35,193,174 RGD:8554872
G SH3D21 SH3 domain containing 21 JBrowse link 1 36,306,348 36,329,221 RGD:8554872
G SLC2A1 solute carrier family 2 member 1 JBrowse link 1 42,925,375 42,958,868 RGD:8554872
G SLC6A9 solute carrier family 6 member 9 JBrowse link 1 43,996,483 44,031,462 RGD:8554872
G SLFNL1 schlafen like 1 JBrowse link 1 41,015,597 41,024,704 RGD:8554872
G SMAP2 small ArfGAP2 JBrowse link 1 40,373,672 40,423,326 RGD:8554872
G SMIM12 small integral membrane protein 12 JBrowse link 1 34,850,362 34,859,779 RGD:8554872
G SNIP1 Smad nuclear interacting protein 1 JBrowse link 1 37,534,449 37,554,293 RGD:8554872
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 1 43,707,465 43,931,165 RGD:8554872
G STK40 serine/threonine kinase 40 JBrowse link 1 36,339,628 36,385,924 RGD:8554872
G SVBP small vasohibin binding protein JBrowse link 1 42,807,052 42,817,397 RGD:8554872
G SZT2 SZT2 subunit of KICSTOR complex JBrowse link 1 43,389,884 43,454,247 RGD:8554872
G TCTEX1D4 Tctex1 domain containing 4 JBrowse link 1 44,805,908 44,809,752 RGD:8554872
G TEKT2 tektin 2 JBrowse link 1 36,084,094 36,088,275 RGD:8554872
G TESK2 testis associated actin remodelling kinase 2 JBrowse link 1 45,343,883 45,491,163 RGD:8554872
G TFAP2E transcription factor AP-2 epsilon JBrowse link 1 35,568,739 35,595,591 RGD:8554872
G THRAP3 thyroid hormone receptor associated protein 3 JBrowse link 1 36,224,429 36,305,357 RGD:8554872
G TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 JBrowse link 1 43,300,954 43,323,108 RGD:8554872
G TMCO2 transmembrane and coiled-coil domains 2 JBrowse link 1 40,247,937 40,251,684 RGD:8554872
G TMEM125 transmembrane protein 125 JBrowse link 1 43,269,865 43,274,002 RGD:8554872
G TMEM35B transmembrane protein 35B JBrowse link 1 34,981,526 34,985,347 RGD:8554872
G TMEM53 transmembrane protein 53 JBrowse link 1 44,653,247 44,674,608 RGD:8554872
G TMEM54 transmembrane protein 54 JBrowse link 1 32,894,595 32,901,389 RGD:8554872
G TMEM69 transmembrane protein 69 JBrowse link 1 45,688,181 45,694,438 RGD:8554872
G TOE1 target of EGR1, exonuclease JBrowse link 1 45,339,751 45,343,973 RGD:8554872
G TRAPPC3 trafficking protein particle complex 3 JBrowse link 1 36,136,569 36,156,053 RGD:8554872
G TRIM62 tripartite motif containing 62 JBrowse link 1 33,145,399 33,184,774 RGD:8554872
G TRIT1 tRNA isopentenyltransferase 1 JBrowse link 1 39,838,110 39,883,511 RGD:8554872
G TSPAN1 tetraspanin 1 JBrowse link 1 46,175,087 46,196,489 RGD:8554872
G UROD uroporphyrinogen decarboxylase JBrowse link 1 45,012,254 45,015,575 RGD:8554872
G UTP11 UTP11 small subunit processome component JBrowse link 1 38,012,716 38,024,820 RGD:8554872
G YARS1 tyrosyl-tRNA synthetase 1 JBrowse link 1 32,775,238 32,818,032 RGD:8554872
RGD:7240710
G YBX1 Y-box binding protein 1 JBrowse link 1 42,682,418 42,703,805 RGD:8554872
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing JBrowse link 1 37,802,945 37,808,208 RGD:8554872
G ZC3H12A zinc finger CCCH-type containing 12A JBrowse link 1 37,474,518 37,484,377 RGD:8554872
G ZFP69 ZFP69 zinc finger protein JBrowse link 1 40,477,220 40,496,343 RGD:8554872
G ZFP69B ZFP69 zinc finger protein B JBrowse link 1 40,450,064 40,466,765 RGD:8554872
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 1 40,258,078 40,294,180 RGD:8554872
G ZMYM1 zinc finger MYM-type containing 1 JBrowse link 1 35,059,786 35,116,458 RGD:8554872
G ZMYM4 zinc finger MYM-type containing 4 JBrowse link 1 35,268,694 35,422,058 RGD:8554872
G ZMYM6 zinc finger MYM-type containing 6 JBrowse link 1 34,986,165 35,031,945 RGD:8554872
G ZMYND12 zinc finger MYND-type containing 12 JBrowse link 1 42,430,329 42,456,267 RGD:8554872
G ZNF362 zinc finger protein 362 JBrowse link 1 33,256,307 33,300,719 RGD:8554872
G ZNF684 zinc finger protein 684 JBrowse link 1 40,531,637 40,548,167 RGD:8554872
G ZNF691 zinc finger protein 691 JBrowse link 1 42,846,563 42,852,477 RGD:8554872
G ZSCAN20 zinc finger and SCAN domain containing 20 JBrowse link 1 33,472,591 33,504,253 RGD:8554872
G ZSWIM5 zinc finger SWIM-type containing 5 JBrowse link 1 45,016,399 45,206,605 RGD:8554872
Charcot-Marie-Tooth disease dominant intermediate D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 1 161,303,594 161,309,969 RGD:7240710
Charcot-Marie-Tooth disease dominant intermediate E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G INF2 inverted formin, FH2 and WH2 domain containing JBrowse link 14 104,689,606 104,722,535 RGD:8554872
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 3 179,396,088 179,451,470 RGD:8554872
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 24,950,955 24,956,612 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease intermediate type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNM2 dynamin 2 JBrowse link 19 10,718,053 10,831,910 RGD:8554872
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 8 74,350,383 74,488,872 RGD:8554872
G KARS1 lysyl-tRNA synthetase 1 JBrowse link 16 75,627,724 75,647,687 RGD:8554872
G MPZ myelin protein zero JBrowse link 1 161,303,594 161,309,969 RGD:8554872
G S100PBP S100P binding protein JBrowse link 1 32,816,767 32,858,879 RGD:8554872
G SDHC succinate dehydrogenase complex subunit C JBrowse link 1 161,314,381 161,375,340 RGD:8554872
G YARS1 tyrosyl-tRNA synthetase 1 JBrowse link 1 32,775,238 32,818,032 RGD:8554872
Charcot-Marie-Tooth disease recessive intermediate A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 8 74,350,383 74,488,872 RGD:8554872
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 75,627,724 75,647,687 RGD:8554872
RGD:7240710
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 1 6,466,092 6,520,061 RGD:8554872
Charcot-Marie-Tooth disease recessive intermediate C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 1 6,466,092 6,520,061 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease recessive intermediate D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COX6A1 cytochrome c oxidase subunit 6A1 JBrowse link 12 120,438,113 120,440,730 RGD:8554872
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 70,252,295 70,289,509 RGD:8554872
G CDRT15 CMT1A duplicated region transcript 15 JBrowse link 17 14,235,673 14,236,862 RGD:8554872
G CDRT4 CMT1A duplicated region transcript 4 JBrowse link 17 15,436,015 15,467,621 RGD:8554872
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 101,964,573 102,056,443 RGD:8554872
G EGR2 early growth response 2 JBrowse link 10 62,811,996 62,819,167 RGD:8554872
G FIG4 FIG4 phosphoinositide 5-phosphatase JBrowse link 6 109,691,296 109,825,431 RGD:8554872
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 7 30,594,735 30,634,033 RGD:8554872
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 8 74,350,383 74,488,872 RGD:8554872
G HS3ST3B1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 JBrowse link 17 14,301,081 14,349,406 RGD:8554872
G IGHMBP2 immunoglobulin mu DNA binding protein 2 JBrowse link 11 68,903,855 68,940,601 RGD:8554872
G KIF1B kinesin family member 1B JBrowse link 1 10,210,570 10,381,603 RGD:8554872
G LITAF lipopolysaccharide induced TNF factor JBrowse link 16 11,547,722 11,636,377 RGD:8554872
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 127,451,486 127,503,501 RGD:8554872
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:8554872
G MIR4731 microRNA 4731 JBrowse link 17 15,251,627 15,251,696 RGD:8554872
G MIR6841 microRNA 6841 JBrowse link 8 24,953,796 24,953,867 RGD:8554872
G MORC2 MORC family CW-type zinc finger 2 JBrowse link 22 30,925,130 30,968,774 RGD:8554872
G MPZ myelin protein zero JBrowse link 1 161,303,594 161,309,969 RGD:8554872
G NEFL neurofilament light JBrowse link 8 24,950,955 24,956,612 RGD:8554872
G PMP22 peripheral myelin protein 22 JBrowse link 17 15,229,777 15,265,326 RGD:8554872
G PRX periaxin JBrowse link 19 40,393,762 40,414,718 RGD:8554872
G SDHC succinate dehydrogenase complex subunit C JBrowse link 1 161,314,381 161,375,340 RGD:8554872
G SEPTIN9 septin 9 JBrowse link 17 77,281,499 77,500,596 RGD:8554872
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 5 148,982,150 149,063,062 RGD:8554872
G TEKT3 tektin 3 JBrowse link 17 15,303,811 15,343,682 RGD:8554872
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 109,783,087 109,833,398 RGD:8554872
G TVP23C trans-golgi network vesicle protein 23 homolog C JBrowse link 17 15,502,264 15,563,631 RGD:8554872
G TVP23C-CDRT4 TVP23C-CDRT4 readthrough JBrowse link 17 15,436,015 15,563,483 RGD:8554872
Charcot-Marie-Tooth disease type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDRT1 CMT1A duplicated region transcript 1 JBrowse link 17 15,565,482 15,619,704 RGD:8554872
G CDRT15 CMT1A duplicated region transcript 15 JBrowse link 17 14,235,673 14,236,862 RGD:8554872
G CDRT4 CMT1A duplicated region transcript 4 JBrowse link 17 15,436,015 15,467,621 RGD:8554872
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 17 14,069,504 14,208,677 RGD:8554872
G HS3ST3B1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 JBrowse link 17 14,301,081 14,349,406 RGD:8554872
G PMP22 peripheral myelin protein 22 JBrowse link 17 15,229,777 15,265,326 RGD:8554872
RGD:7240710
G TEKT3 tektin 3 JBrowse link 17 15,303,811 15,343,682 RGD:8554872
G TVP23C trans-golgi network vesicle protein 23 homolog C JBrowse link 17 15,502,264 15,563,631 RGD:8554872
G TVP23C-CDRT4 TVP23C-CDRT4 readthrough JBrowse link 17 15,436,015 15,563,483 RGD:8554872
Charcot-Marie-Tooth disease type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 1 161,303,594 161,309,969 RGD:8554872
RGD:7240710
G SDHC succinate dehydrogenase complex subunit C JBrowse link 1 161,314,381 161,375,340 RGD:8554872
Charcot-Marie-Tooth disease type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LITAF lipopolysaccharide induced TNF factor JBrowse link 16 11,547,722 11,636,377 RGD:8554872
RGD:7240710
G NEFL neurofilament light JBrowse link 8 24,950,955 24,956,612 RGD:8554872
Charcot-Marie-Tooth disease type 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EGR2 early growth response 2 JBrowse link 10 62,811,996 62,819,167 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PMP22 peripheral myelin protein 22 JBrowse link 17 15,229,777 15,265,326 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEFL neurofilament light JBrowse link 8 24,950,955 24,956,612 RGD:8554872
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 81,440,326 81,447,439 RGD:8554872
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 70,252,295 70,289,509 RGD:8554872
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 JBrowse link 1 155,946,839 155,991,262 RGD:8554872
G BGLAP bone gamma-carboxyglutamate protein JBrowse link 1 156,242,184 156,243,317 RGD:8554872
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 11 62,690,262 62,709,619 RGD:8554872
G COG4 component of oligomeric golgi complex 4 JBrowse link 16 70,480,567 70,523,554 RGD:8554872
G COL12A1 collagen type XII alpha 1 chain JBrowse link 6 75,084,326 75,206,262 RGD:8554872
G DDX19A DEAD-box helicase 19A JBrowse link 16 70,346,829 70,373,383 RGD:8554872
G DDX19B DEAD-box helicase 19B JBrowse link 16 70,289,767 70,335,305 RGD:8554872
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 101,964,573 102,056,443 RGD:8554872
G FCSK fucose kinase JBrowse link 16 70,454,590 70,480,274 RGD:8554872
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 7 30,594,735 30,634,033 RGD:8554872
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) JBrowse link 11 62,690,262 62,727,384 RGD:8554872
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 7 76,302,673 76,304,292 RGD:8554872
G HSPB8 heat shock protein family B (small) member 8 JBrowse link 12 119,178,931 119,194,746 RGD:8554872
G IL34 interleukin 34 JBrowse link 16 70,579,895 70,660,682 RGD:8554872
G KHDC4 KH domain containing 4, pre-mRNA splicing factor JBrowse link 1 155,913,045 155,934,413 RGD:8554872
G KIF1B kinesin family member 1B JBrowse link 1 10,210,570 10,381,603 RGD:8554872
G LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 JBrowse link 1 156,054,782 156,058,506 RGD:8554872
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:8554872
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 127,451,486 127,503,501 RGD:8554872
G MED25 mediator complex subunit 25 JBrowse link 19 49,818,279 49,840,384 RGD:8554872
G MEX3A mex-3 RNA binding family member A JBrowse link 1 156,072,013 156,082,465 RGD:8554872
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:8554872
G MIR4497 microRNA 4497 JBrowse link 12 109,833,348 109,833,436 RGD:8554872
G MIR6738 microRNA 6738 JBrowse link 1 155,951,273 155,951,336 RGD:8554872
G MIR6800 microRNA 6800 JBrowse link 19 49,832,018 49,832,099 RGD:8554872
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,934,717 11,975,537 RGD:8554872
G PMF1 polyamine modulated factor 1 JBrowse link 1 156,212,988 156,240,077 RGD:8554872
G PMF1-BGLAP PMF1-BGLAP readthrough JBrowse link 1 156,212,988 156,243,332 RGD:8554872
G RAB25 RAB25, member RAS oncogene family JBrowse link 1 156,061,160 156,070,504 RGD:8554872
G RAB7A RAB7A, member RAS oncogene family JBrowse link 3 128,726,183 128,814,798 RGD:8554872
G RIT1 Ras like without CAAX 1 JBrowse link 1 155,897,808 155,911,349 RGD:8554872
G RXFP4 relaxin family peptide/INSL5 receptor 4 JBrowse link 1 155,941,638 155,943,087 RGD:8554872
G SCARNA4 small Cajal body-specific RNA 4 JBrowse link 1 155,925,958 155,926,086 RGD:8554872
G SEMA4A semaphorin 4A JBrowse link 1 156,149,672 156,177,751 RGD:8554872
G SF3B3 splicing factor 3b subunit 3 JBrowse link 16 70,523,816 70,577,668 RGD:8554872
G SLC25A44 solute carrier family 25 member 44 JBrowse link 1 156,193,932 156,212,796 RGD:8554872
G SNORA80E small nucleolar RNA, H/ACA box 80E JBrowse link 1 155,919,909 155,920,042 RGD:8554872
G SNORD111 small nucleolar RNA, C/D box 111 JBrowse link 16 70,538,005 70,538,098 RGD:8554872
G SNORD111B small nucleolar RNA, C/D box 111B JBrowse link 16 70,529,499 70,529,599 RGD:8554872
G SSR2 signal sequence receptor subunit 2 JBrowse link 1 156,009,048 156,020,951 RGD:8554872
G ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 JBrowse link 16 70,375,977 70,439,100 RGD:8554872
G TFG trafficking from ER to golgi regulator JBrowse link 3 100,709,290 100,748,967 RGD:13592920
RGD:8554872
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 109,783,087 109,833,398 RGD:8554872
G UBQLN4 ubiquilin 4 JBrowse link 1 156,033,129 156,053,798 RGD:8554872
Charcot-Marie-Tooth disease type 2A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIF1B kinesin family member 1B JBrowse link 1 10,210,570 10,381,603 RGD:12738406
RGD:8554872
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 11,980,181 12,013,515 RGD:12738379
RGD:8554872
RGD:11554173
Charcot-Marie-Tooth disease type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAD9 acyl-CoA dehydrogenase family member 9 JBrowse link 3 128,879,490 128,913,114 RGD:8554872
G KIAA1257 KIAA1257 JBrowse link 3 128,909,873 129,032,431 RGD:8554872
G MIR12124 microRNA 12124 JBrowse link 3 128,846,808 128,846,908 RGD:8554872
G RAB7A RAB7A, member RAS oncogene family JBrowse link 3 128,726,183 128,814,798 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 2B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:1358482
RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 2B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MED25 mediator complex subunit 25 JBrowse link 19 49,818,279 49,840,384 RGD:8554872
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 30,594,735 30,634,033 RGD:8554872
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 24,950,955 24,956,612 RGD:8554872
RGD:7240710
G PMP22 peripheral myelin protein 22 JBrowse link 17 15,229,777 15,265,326 RGD:8554872
Charcot-Marie-Tooth disease type 2I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 1 161,303,594 161,309,969 RGD:8554872
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 1 161,303,594 161,309,969 RGD:8554872
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 4 153,152,163 153,339,317 RGD:8554872
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 35,056,064 35,072,668 RGD:8554872
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 62,811,996 62,819,167 RGD:7240710
RGD:8554872
G GJB1 gap junction protein beta 1 JBrowse link X 71,215,212 71,225,516 RGD:8554872
G MIR4731 microRNA 4731 JBrowse link 17 15,251,627 15,251,696 RGD:8554872
G MPZ myelin protein zero JBrowse link 1 161,303,594 161,309,969 RGD:7240710
RGD:8554872
G PMP22 peripheral myelin protein 22 JBrowse link 17 15,229,777 15,265,326 RGD:7240710
RGD:8554872
G PRX periaxin JBrowse link 19 40,393,762 40,414,718 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCN4 cellular communication network factor 4 JBrowse link 8 133,190,907 133,231,690 RGD:8554872
G DNM1L dynamin 1 like JBrowse link 12 32,679,200 32,745,650 RGD:8554872
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 101,964,573 102,056,443 RGD:8554872
G FGD4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 12 32,399,523 32,646,050 RGD:8554872
G FIG4 FIG4 phosphoinositide 5-phosphatase JBrowse link 6 109,691,296 109,825,431 RGD:8554872
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 8 74,350,383 74,488,872 RGD:8554872
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 7 76,302,673 76,304,292 RGD:8554872
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 8 132,120,858 132,481,095 RGD:8554872
G KIF1B kinesin family member 1B JBrowse link 1 10,210,570 10,381,603 RGD:8554872
G LRRC6 leucine rich repeat containing 6 JBrowse link 8 132,570,416 132,685,039 RGD:8554872
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 127,451,486 127,503,501 RGD:8554872
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:8554872
G MORC2 MORC family CW-type zinc finger 2 JBrowse link 22 30,925,130 30,968,774 RGD:8554872
G MTMR2 myotubularin related protein 2 JBrowse link 11 95,832,880 95,924,110 RGD:8554872
G NDRG1 N-myc downstream regulated 1 JBrowse link 8 133,237,175 133,297,252 RGD:8554872
G PHF20L1 PHD finger protein 20 like 1 JBrowse link 8 132,775,358 132,848,807 RGD:8554872
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,934,717 11,975,537 RGD:8554872
G PRX periaxin JBrowse link 19 40,393,762 40,414,718 RGD:8554872
G SBF1 SET binding factor 1 JBrowse link 22 50,445,000 50,475,035 RGD:8554872
G SBF2 SET binding factor 2 JBrowse link 11 9,778,667 10,294,207 RGD:8554872
G SBF2-AS1 SBF2 antisense RNA 1 JBrowse link 11 9,758,293 9,811,319 RGD:8554872
G SEPTIN9 septin 9 JBrowse link 17 77,281,499 77,500,596 RGD:8554872
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 5 148,982,150 149,063,062 RGD:8554872
G SLA Src like adaptor JBrowse link 8 133,036,728 133,103,053 RGD:8554872
G TG thyroglobulin JBrowse link 8 132,866,943 133,134,902 RGD:8554872
G TMEM71 transmembrane protein 71 JBrowse link 8 132,709,941 132,760,582 RGD:8554872
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 109,783,087 109,833,398 RGD:8554872
Charcot-Marie-Tooth disease type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 8 74,350,383 74,488,872 RGD:1358634
RGD:8554872
RGD:7240710
RGD:12738393
RGD:12738391
G JPH1 junctophilin 1 JBrowse link 8 74,234,700 74,321,540 RGD:8554872
G LY96 lymphocyte antigen 96 JBrowse link 8 73,991,275 74,099,807 RGD:8554872
G TMEM70 transmembrane protein 70 JBrowse link 8 73,976,142 73,982,783 RGD:8554872
Charcot-Marie-Tooth Disease Type 4A, Axonal Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 8 74,350,383 74,488,872 RGD:8554872
RGD:7240710
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 127,451,486 127,503,501 RGD:11554173
Charcot-Marie-Tooth disease type 4B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTMR2 myotubularin related protein 2 JBrowse link 11 95,832,880 95,924,110 RGD:8554872
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 9,778,667 10,294,207 RGD:8554872
RGD:7240710
G SBF2-AS1 SBF2 antisense RNA 1 JBrowse link 11 9,758,293 9,811,319 RGD:8554872
Charcot-Marie-Tooth disease type 4B3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SBF1 SET binding factor 1 JBrowse link 22 50,445,000 50,475,035 RGD:8554872
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 5 148,982,150 149,063,062 RGD:8554872
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 8 133,237,175 133,297,252 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 4E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EGR2 early growth response 2 JBrowse link 10 62,811,996 62,819,167 RGD:8554872
RGD:7240710
G MPZ myelin protein zero JBrowse link 1 161,303,594 161,309,969 RGD:8554872
G SDHC succinate dehydrogenase complex subunit C JBrowse link 1 161,314,381 161,375,340 RGD:8554872
Charcot-Marie-Tooth disease type 4F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRX periaxin JBrowse link 19 40,393,762 40,414,718 RGD:8554872
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 69,269,991 69,401,882 RGD:8554872
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 32,399,523 32,646,050 RGD:8554872
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 6 109,691,296 109,825,431 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 4K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SURF1 SURF1 cytochrome c oxidase assembly factor JBrowse link 9 133,351,758 133,356,487 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:1601409
RGD:11554173
RGD:8554872
G SLC25A46 solute carrier family 25 member 46 JBrowse link 5 110,738,145 110,765,157 RGD:13592920
Charcot-Marie-Tooth Disease Type 6A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease Type 6B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC25A46 solute carrier family 25 member 46 JBrowse link 5 110,738,145 110,765,157 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease Type 6C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDXK pyridoxal kinase JBrowse link 21 43,719,129 43,762,299 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type X term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIFM1 apoptosis inducing factor mitochondria associated 1 JBrowse link X 130,129,362 130,165,887 RGD:8554872
G GJB1 gap junction protein beta 1 JBrowse link X 71,215,212 71,225,516 RGD:8554872
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 107,628,424 107,651,026 RGD:8554872
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 130,110,633 130,184,873 RGD:8554872
Charcot-Marie-Tooth disease X-linked dominant 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB1 gap junction protein beta 1 JBrowse link X 71,215,212 71,225,516 RGD:8554872
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 24,465,227 24,550,466 RGD:8554872
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 130,129,362 130,165,887 RGD:8554872
RGD:7240710
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 130,110,633 130,184,873 RGD:8554872
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 107,628,424 107,651,026 RGD:8554872
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 5 140,673,904 140,691,727 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease, Axonal, Type 2DD term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 1 116,372,986 116,410,259 RGD:8554872
RGD:7240710
G ATP1A1-AS1 ATP1A1 antisense RNA 1 JBrowse link 1 116,392,865 116,418,622 RGD:8554872
Charcot-Marie-Tooth Disease, Axonal, Type 2EE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPV17 mitochondrial inner membrane protein MPV17 JBrowse link 2 27,309,492 27,323,097 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease, Dominant Intermediate 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 1 161,303,594 161,309,969 RGD:8554872
Charcot-Marie-Tooth Disease, Type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:1601408
Congenital Vertical Talus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXD10 homeobox D10 JBrowse link 2 176,116,778 176,119,937 RGD:8554872
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 12 119,178,931 119,194,746 RGD:8554872
RGD:7240710
distal hereditary motor neuronopathy type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC5A7 solute carrier family 5 member 7 JBrowse link 2 107,986,524 108,014,497 RGD:8554872
distal hereditary motor neuronopathy type 7A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC138 coiled-coil domain containing 138 JBrowse link 2 108,786,733 108,885,485 RGD:8554872
G EDAR ectodysplasin A receptor JBrowse link 2 108,894,471 108,989,256 RGD:8554872
G GCC2 GRIP and coiled-coil domain containing 2 JBrowse link 2 108,448,561 108,509,415 RGD:8554872
G GCC2-AS1 GCC2 antisense RNA 1 JBrowse link 2 108,507,527 108,534,219 RGD:8554872
G LIMS1 LIM zinc finger domain containing 1 JBrowse link 2 108,533,671 108,687,246 RGD:8554872
G LIMS1-AS1 LIMS1 antisense RNA 1 JBrowse link 2 108,676,795 108,678,601 RGD:8554872
G LINC01593 long intergenic non-protein coding RNA 1593 JBrowse link 2 108,049,200 108,052,755 RGD:8554872
G LINC01594 long intergenic non-protein coding RNA 1594 JBrowse link 2 108,167,748 108,217,841 RGD:8554872
G RANBP2 RAN binding protein 2 JBrowse link 2 108,719,446 109,842,301 RGD:8554872
G SLC5A7 solute carrier family 5 member 7 JBrowse link 2 107,986,524 108,014,497 RGD:8554872
RGD:7240710
G SULT1C2 sulfotransferase family 1C member 2 JBrowse link 2 108,288,895 108,309,915 RGD:8554872
G SULT1C3 sulfotransferase family 1C member 3 JBrowse link 2 108,239,968 108,265,608 RGD:8554872
G SULT1C4 sulfotransferase family 1C member 4 JBrowse link 2 108,377,954 108,388,989 RGD:8554872
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCTN1 dynactin subunit 1 JBrowse link 2 74,361,154 74,392,087 RGD:7240710
RGD:8554872
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 1 6,466,092 6,520,061 RGD:8554872
essential tremor 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HS1BP3 HCLS1 binding protein 3 JBrowse link 2 20,552,934 20,651,661 RGD:7240710
Fitzsimmons-Guilbert Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBL1XR1 TBL1X receptor 1 JBrowse link 3 177,019,344 177,197,482 RGD:8554872
Giant Axonal Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATMIN ATM interactor JBrowse link 16 81,035,842 81,047,350 RGD:8554872
G BCO1 beta-carotene oxygenase 1 JBrowse link 16 81,238,448 81,291,142 RGD:8554872
G C16orf46 chromosome 16 open reading frame 46 JBrowse link 16 81,053,497 81,077,267 RGD:8554872
G CDYL2 chromodomain Y like 2 JBrowse link 16 80,597,899 80,805,043 RGD:8554872
G CENPN centromere protein N JBrowse link 16 81,006,498 81,033,107 RGD:8554872
G CMC2 C-X9-C motif containing 2 JBrowse link 16 80,966,448 81,007,036 RGD:8554872
G GAN gigaxonin JBrowse link 16 81,314,941 81,380,198 RGD:8554872
RGD:11554173
G GCSH glycine cleavage system protein H JBrowse link 16 81,081,945 81,096,395 RGD:8554872
G PKD1L2 polycystin 1 like 2 (gene/pseudogene) JBrowse link 16 81,100,875 81,220,394 RGD:8554872
giant axonal neuropathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GAN gigaxonin JBrowse link 16 81,314,941 81,380,198 RGD:7240710
giant axonal neuropathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCAF8 DDB1 and CUL4 associated factor 8 JBrowse link 1 160,215,720 160,262,549 RGD:8554872
RGD:7240710
Hereditary Motor and Sensory Neuropathy, Okinawa Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TFG trafficking from ER to golgi regulator JBrowse link 3 100,709,290 100,748,967 RGD:8554872
RGD:7240710
hereditary neuropathy with liability to pressure palsies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:8554872
G MIR4731 microRNA 4731 JBrowse link 17 15,251,627 15,251,696 RGD:8554872
G PMP22 peripheral myelin protein 22 JBrowse link 17 15,229,777 15,265,326 RGD:8554872
RGD:7240710
Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCT5 chaperonin containing TCP1 subunit 5 JBrowse link 5 10,249,921 10,266,412 RGD:8554872
RGD:7240710
Hereditary Spastic Paralysis, Infantile Onset Ascending term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 JBrowse link 2 201,700,267 201,781,153 RGD:8554872
RGD:7240710
hereditary spastic paraplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 JBrowse link 10 95,605,938 95,656,901 RGD:13434921
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 JBrowse link 2 201,700,267 201,781,153 RGD:8554872
G AMPD2 adenosine monophosphate deaminase 2 JBrowse link 1 109,619,813 109,632,055 RGD:8554872
G AP4B1 adaptor related protein complex 4 subunit beta 1 JBrowse link 1 113,894,194 113,905,067 RGD:8554872
G AP4B1-AS1 AP4B1 antisense RNA 1 JBrowse link 1 113,812,612 113,901,237 RGD:8554872
G AP4M1 adaptor related protein complex 4 subunit mu 1 JBrowse link 7 100,101,413 100,109,039 RGD:8554872
G AP5B1 adaptor related protein complex 5 subunit beta 1 JBrowse link 11 65,773,898 65,780,976 RGD:8554872
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 JBrowse link 7 4,775,623 4,794,397 RGD:9684952
RGD:8554872
G ARHGAP9 Rho GTPase activating protein 9 JBrowse link 12 57,472,262 57,488,824 RGD:8554872
G ARSI arylsulfatase family member I JBrowse link 5 150,296,343 150,302,905 RGD:8554872
G ATL1 atlastin GTPase 1 JBrowse link 14 50,533,082 50,633,068 RGD:8554872
G BICD2 BICD cargo adaptor 2 JBrowse link 9 92,711,363 92,764,841 RGD:8554872
G BORCS7 BLOC-1 related complex subunit 7 JBrowse link 10 102,854,259 102,864,961 RGD:13592920
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 11 62,690,262 62,709,619 RGD:1600602
RGD:8554872
G C19orf12 chromosome 19 open reading frame 12 JBrowse link 19 29,698,886 29,715,789 RGD:8554872
G CCT5 chaperonin containing TCP1 subunit 5 JBrowse link 5 10,249,921 10,266,412 RGD:8554872
G CEP63 centrosomal protein 63 JBrowse link 3 134,485,724 134,783,169 RGD:8554872
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 JBrowse link 8 64,586,575 64,798,737 RGD:8554872
RGD:11554173
G DDHD2 DDHD domain containing 2 JBrowse link 8 38,231,491 38,273,922 RGD:8554872
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 101,964,573 102,056,443 RGD:8554872
G EIF3J eukaryotic translation initiation factor 3 subunit J JBrowse link 15 44,537,068 44,562,803 RGD:8554872
G EPHB1 EPH receptor B1 JBrowse link 3 134,595,264 135,260,467 RGD:8554872
G ERLIN2 ER lipid raft associated 2 JBrowse link 8 37,736,627 37,758,422 RGD:8554872
G FLRT1 fibronectin leucine rich transmembrane protein 1 JBrowse link 11 64,035,970 64,127,289 RGD:8554872
G GAD1 glutamate decarboxylase 1 JBrowse link 2 170,813,210 170,861,151 RGD:8554872
G GBA2 glucosylceramidase beta 2 JBrowse link 9 35,736,862 35,749,228 RGD:8554872
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) JBrowse link 11 62,690,262 62,727,384 RGD:8554872
G HSPD1 heat shock protein family D (Hsp60) member 1 JBrowse link 2 197,486,584 197,500,274 RGD:1624200
RGD:8554872
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 17 4,988,130 5,006,093 RGD:8554872
G KIF1A kinesin family member 1A JBrowse link 2 240,713,764 240,820,308 RGD:12911231
RGD:8554872
G KIF1C kinesin family member 1C JBrowse link 17 4,997,950 5,028,401 RGD:8554872
G KIF5A kinesin family member 5A JBrowse link 12 57,550,039 57,586,633 RGD:8554872
G KY kyphoscoliosis peptidase JBrowse link 3 134,599,923 134,656,053 RGD:8554872
G L2HGDH L-2-hydroxyglutarate dehydrogenase JBrowse link 14 50,242,434 50,312,229 RGD:13506824
G MACROD1 mono-ADP ribosylhydrolase 1 JBrowse link 11 63,998,554 64,166,652 RGD:8554872
G MAG myelin associated glycoprotein JBrowse link 19 35,292,086 35,313,807 RGD:8554872
G MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 JBrowse link 14 50,418,475 50,561,126 RGD:8554872
G MARS1 methionyl-tRNA synthetase 1 JBrowse link 12 57,488,068 57,516,655 RGD:8554872
G MCOLN1 mucolipin 1 JBrowse link 19 7,522,624 7,534,009 RGD:8554872
G NIPA1 NIPA magnesium transporter 1 JBrowse link 15 22,786,225 22,829,789 RGD:8554872
G PNPLA6 patatin like phospholipase domain containing 6 JBrowse link 19 7,534,164 7,561,767 RGD:8554872
RGD:11554173
G PQBP1 polyglutamine binding protein 1 JBrowse link X 48,897,862 48,903,145 RGD:11554173
G REEP1 receptor accessory protein 1 JBrowse link 2 86,213,993 86,338,083 RGD:8554872
G RTN2 reticulon 2 JBrowse link 19 45,485,294 45,497,047 RGD:8554872
G SACS sacsin molecular chaperone JBrowse link 13 23,328,827 23,433,728 RGD:8554872
G SETX senataxin JBrowse link 9 132,261,356 132,356,726 RGD:8554872
G SLC16A2 solute carrier family 16 member 2 JBrowse link X 74,421,493 74,533,916 RGD:8554872
G SLC33A1 solute carrier family 33 member 1 JBrowse link 3 155,821,024 155,855,358 RGD:8554872
G SPAST spastin JBrowse link 2 32,063,551 32,157,637 RGD:8554872
G SPG11 SPG11 vesicle trafficking associated, spatacsin JBrowse link 15 44,562,696 44,663,678 RGD:8554872
G SPG21 SPG21 abhydrolase domain containing, maspardin JBrowse link 15 64,963,022 64,989,914 RGD:1556574
RGD:8554872
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 16 89,508,379 89,557,768 RGD:8554872
G TECPR2 tectonin beta-propeller repeat containing 2 JBrowse link 14 102,362,941 102,502,477 RGD:11554173
G USP8 ubiquitin specific peptidase 8 JBrowse link 15 50,424,359 50,514,421 RGD:8554872
G WASHC5 WASH complex subunit 5 JBrowse link 8 125,024,260 125,091,819 RGD:8554872
G WDR48 WD repeat domain 48 JBrowse link 3 39,052,002 39,096,671 RGD:8554872
G ZFR zinc finger RNA binding protein JBrowse link 5 32,354,350 32,444,740 RGD:8554872
G ZFYVE26 zinc finger FYVE-type containing 26 JBrowse link 14 67,728,892 67,817,293 RGD:8554872
G ZFYVE27 zinc finger FYVE-type containing 27 JBrowse link 10 97,737,121 97,760,907 RGD:8554872
hereditary spastic paraplegia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATL1 atlastin GTPase 1 JBrowse link 14 50,533,082 50,633,068 RGD:8554872
G HSPD1 heat shock protein family D (Hsp60) member 1 JBrowse link 2 197,486,584 197,500,274 RGD:8554872
G KIF5A kinesin family member 5A JBrowse link 12 57,550,039 57,586,633 RGD:12793060
RGD:8554872
RGD:7240710
RGD:12859091
RGD:12859090
RGD:12793069
RGD:12793068
RGD:12793065
RGD:12793061
G MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 JBrowse link 14 50,418,475 50,561,126 RGD:8554872
G NIPA1 NIPA magnesium transporter 1 JBrowse link 15 22,786,225 22,829,789 RGD:8554872
G REEP1 receptor accessory protein 1 JBrowse link 2 86,213,993 86,338,083 RGD:8554872
G RTN2 reticulon 2 JBrowse link 19 45,485,294 45,497,047 RGD:8554872
G SLC33A1 solute carrier family 33 member 1 JBrowse link 3 155,821,024 155,855,358 RGD:8554872
G SPAST spastin JBrowse link 2 32,063,551 32,157,637 RGD:8554872
G WASHC5 WASH complex subunit 5 JBrowse link 8 125,024,260 125,091,819 RGD:8554872
G ZFYVE27 zinc finger FYVE-type containing 27 JBrowse link 10 97,737,121 97,760,907 RGD:8554872
hereditary spastic paraplegia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS1 alanyl-tRNA synthetase 1 JBrowse link 16 70,252,295 70,289,509 RGD:8554872
G CHAT choline O-acetyltransferase JBrowse link 10 49,609,095 49,665,104 RGD:8554872
G GCH1 GTP cyclohydrolase 1 JBrowse link 14 54,842,005 54,902,826 RGD:8554872
G SPG11 SPG11 vesicle trafficking associated, spatacsin JBrowse link 15 44,562,696 44,663,678 RGD:8554872
RGD:7240710
G TBR1 T-box brain transcription factor 1 JBrowse link 2 161,416,297 161,425,870 RGD:8554872
G TTN titin JBrowse link 2 178,525,989 178,807,423 RGD:8554872
hereditary spastic paraplegia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RTN2 reticulon 2 JBrowse link 19 45,485,294 45,497,047 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HSPD1 heat shock protein family D (Hsp60) member 1 JBrowse link 2 197,486,584 197,500,274 RGD:10402832
RGD:8554872
RGD:11554173
RGD:7240710
hereditary spastic paraplegia 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ZFYVE26 zinc finger FYVE-type containing 26 JBrowse link 14 67,728,892 67,817,293 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAD9 acyl-CoA dehydrogenase family member 9 JBrowse link 3 128,879,490 128,913,114 RGD:8554872
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 11 62,690,262 62,709,619 RGD:7240710
RGD:8554872
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) JBrowse link 11 62,690,262 62,727,384 RGD:8554872
hereditary spastic paraplegia 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERLIN2 ER lipid raft associated 2 JBrowse link 8 37,736,627 37,758,422 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLP1 proteolipid protein 1 JBrowse link X 103,776,506 103,792,619 RGD:7240710
RGD:8554872
G RAB9B RAB9B, member RAS oncogene family JBrowse link X 103,776,324 103,832,282 RGD:8554872
hereditary spastic paraplegia 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSTYK dual serine/threonine and tyrosine protein kinase JBrowse link 1 205,142,497 205,211,702 RGD:7240710
hereditary spastic paraplegia 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 JBrowse link 12 57,623,409 57,633,239 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DDHD1 DDHD domain containing 1 JBrowse link 14 53,036,755 53,153,323 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIF1A kinesin family member 1A JBrowse link 2 240,713,764 240,820,308 RGD:12911224
RGD:8554872
RGD:7240710
RGD:12911228
hereditary spastic paraplegia 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G REEP1 receptor accessory protein 1 JBrowse link 2 86,213,993 86,338,083 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ZFYVE27 zinc finger FYVE-type containing 27 JBrowse link 10 97,737,121 97,760,907 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FA2H fatty acid 2-hydroxylase JBrowse link 16 74,712,955 74,774,831 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MCOLN1 mucolipin 1 JBrowse link 19 7,522,624 7,534,009 RGD:8554872
G PNPLA6 patatin like phospholipase domain containing 6 JBrowse link 19 7,534,164 7,561,767 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATL1 atlastin GTPase 1 JBrowse link 14 50,533,082 50,633,068 RGD:8554872
RGD:7240710
G MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 JBrowse link 14 50,418,475 50,561,126 RGD:8554872
hereditary spastic paraplegia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BIRC6 baculoviral IAP repeat containing 6 JBrowse link 2 32,356,907 32,618,899 RGD:8554872
G DPY30 dpy-30 histone methyltransferase complex regulatory subunit JBrowse link 2 32,011,649 32,039,840 RGD:8554872
G LTBP1 latent transforming growth factor beta binding protein 1 JBrowse link 2 32,902,129 33,399,509 RGD:8554872
G NLRC4 NLR family CARD domain containing 4 JBrowse link 2 32,224,449 32,265,743 RGD:8554872
G SLC30A6 solute carrier family 30 member 6 JBrowse link 2 32,165,841 32,224,379 RGD:8554872
G SPAST spastin JBrowse link 2 32,063,551 32,157,637 RGD:8554872
RGD:7240710
G TTC27 tetratricopeptide repeat domain 27 JBrowse link 2 32,628,035 32,821,051 RGD:8554872
G YIPF4 Yip1 domain family member 4 JBrowse link 2 32,277,904 32,316,594 RGD:8554872
hereditary spastic paraplegia 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC33A1 solute carrier family 33 member 1 JBrowse link 3 155,821,024 155,855,358 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C19orf12 chromosome 19 open reading frame 12 JBrowse link 19 29,698,886 29,715,789 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJC2 gap junction protein gamma 2 JBrowse link 1 228,149,930 228,159,826 RGD:13208577
RGD:7240710
RGD:8554872
hereditary spastic paraplegia 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 JBrowse link 10 102,918,293 103,090,222 RGD:8554872
G NT5C2 5'-nucleotidase, cytosolic II JBrowse link 10 103,088,017 103,193,306 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 46 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GBA2 glucosylceramidase beta 2 JBrowse link 9 35,736,862 35,749,228 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP4B1 adaptor related protein complex 4 subunit beta 1 JBrowse link 1 113,894,194 113,905,067 RGD:8554872
RGD:7240710
G AP4B1-AS1 AP4B1 antisense RNA 1 JBrowse link 1 113,812,612 113,901,237 RGD:8554872
G DCLRE1B DNA cross-link repair 1B JBrowse link 1 113,904,619 113,914,086 RGD:8554872
hereditary spastic paraplegia 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 JBrowse link 7 4,775,623 4,794,397 RGD:8554872
RGD:7240710
G MIR4656 microRNA 4656 JBrowse link 7 4,788,565 4,788,639 RGD:8554872
hereditary spastic paraplegia 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKRD9 ankyrin repeat domain 9 JBrowse link 14 102,501,767 102,509,776 RGD:8554872
G TECPR2 tectonin beta-propeller repeat containing 2 JBrowse link 14 102,362,941 102,502,477 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 50 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADD3 adducin 3 JBrowse link 10 109,996,365 110,135,565 RGD:8554872
RGD:7240710
G AP4M1 adaptor related protein complex 4 subunit mu 1 JBrowse link 7 100,101,413 100,109,039 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 JBrowse link 15 50,908,569 51,005,900 RGD:8554872
RGD:7240710
G SPPL2A signal peptide peptidase like 2A JBrowse link 15 50,702,266 50,765,712 RGD:8554872
hereditary spastic paraplegia 52 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP4S1 adaptor related protein complex 4 subunit sigma 1 JBrowse link 14 31,025,106 31,096,450 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 53 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VPS37A VPS37A subunit of ESCRT-I JBrowse link 8 17,246,892 17,333,455 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 54 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DDHD2 DDHD domain containing 2 JBrowse link 8 38,231,491 38,273,922 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 55 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C12orf65 chromosome 12 open reading frame 65 JBrowse link 12 123,233,436 123,257,960 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 JBrowse link 4 107,931,549 107,953,461 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 57 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TFG trafficking from ER to golgi regulator JBrowse link 3 100,709,290 100,748,967 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 5A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 JBrowse link 10 95,605,938 95,656,901 RGD:8554872
G C19orf12 chromosome 19 open reading frame 12 JBrowse link 19 29,698,886 29,715,789 RGD:8554872
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 JBrowse link 4 107,931,549 107,953,461 RGD:8554872
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 JBrowse link 8 64,586,575 64,798,737 RGD:8554872
RGD:11554173
RGD:7240710
G GBA2 glucosylceramidase beta 2 JBrowse link 9 35,736,862 35,749,228 RGD:8554872
G MCOLN1 mucolipin 1 JBrowse link 19 7,522,624 7,534,009 RGD:8554872
hereditary spastic paraplegia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYFIP1 cytoplasmic FMR1 interacting protein 1 JBrowse link 15 22,867,052 22,980,898 RGD:8554872
G NIPA1 NIPA magnesium transporter 1 JBrowse link 15 22,786,225 22,829,789 RGD:8554872
RGD:7240710
G NIPA2 NIPA magnesium transporter 2 JBrowse link 15 22,838,641 22,868,384 RGD:8554872
G TUBGCP5 tubulin gamma complex associated protein 5 JBrowse link 15 22,983,025 23,039,673 RGD:8554872
hereditary spastic paraplegia 61 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1 JBrowse link 16 18,791,667 18,801,549 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 62 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERLIN1 ER lipid raft associated 1 JBrowse link 10 100,150,094 100,186,029 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 63 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AMPD2 adenosine monophosphate deaminase 2 JBrowse link 1 109,619,813 109,632,055 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 64 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 JBrowse link 10 95,710,901 95,877,266 RGD:8554872
RGD:7240710
G ENTPD1-AS1 ENTPD1 antisense RNA 1 JBrowse link 10 95,753,206 96,090,235 RGD:8554872
hereditary spastic paraplegia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRCA2 BRCA2 DNA repair associated JBrowse link 13 32,315,480 32,399,672 RGD:8554872
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 16 89,508,379 89,557,768 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 72 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G REEP2 receptor accessory protein 2 JBrowse link 5 138,439,057 138,446,965 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 73 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPT1C carnitine palmitoyltransferase 1C JBrowse link 19 49,690,672 49,713,731 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 74 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IBA57 iron-sulfur cluster assembly factor IBA57 JBrowse link 1 228,165,804 228,182,257 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 75 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAG myelin associated glycoprotein JBrowse link 19 35,292,086 35,313,807 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 76 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAPN1 calpain 1 JBrowse link 11 65,181,373 65,212,006 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 77 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial JBrowse link 6 5,261,007 5,771,583 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNM1L dynamin 1 like JBrowse link 12 32,679,200 32,745,650 RGD:8554872
G NSD1 nuclear receptor binding SET domain protein 1 JBrowse link 5 177,131,835 177,300,213 RGD:8554872
G SETBP1 SET binding protein 1 JBrowse link 18 44,680,072 45,068,510 RGD:8554872
G TBK1 TANK binding kinase 1 JBrowse link 12 64,452,105 64,502,114 RGD:8554872
G WASHC5 WASH complex subunit 5 JBrowse link 8 125,024,260 125,091,819 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 9A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 JBrowse link 10 95,605,938 95,656,901 RGD:11056004
RGD:8554872
RGD:7240710
hereditary spastic paraplegia 9B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 JBrowse link 10 95,605,938 95,656,901 RGD:8554872
RGD:7240710
infantile Refsum disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GATAD1 GATA zinc finger domain containing 1 JBrowse link 7 92,447,448 92,494,631 RGD:8554872
G PEX1 peroxisomal biogenesis factor 1 JBrowse link 7 92,487,023 92,528,520 RGD:8554872
RGD:7240710
G PEX12 peroxisomal biogenesis factor 12 JBrowse link 17 35,574,795 35,578,571 RGD:8554872
G PEX2 peroxisomal biogenesis factor 2 JBrowse link 8 76,980,258 77,001,044 RGD:11554173
G PEX26 peroxisomal biogenesis factor 26 JBrowse link 22 18,077,990 18,105,396 RGD:11554173
G PEX5 peroxisomal biogenesis factor 5 JBrowse link 12 7,188,685 7,218,574 RGD:8554872
MASA syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G L1CAM L1 cell adhesion molecule JBrowse link X 153,861,514 153,886,173 RGD:6483061
RGD:8554872
RGD:11554173
RGD:7240710
RGD:11570406
RGD:11064095
MAST syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPG21 SPG21 abhydrolase domain containing, maspardin JBrowse link 15 64,963,022 64,989,914 RGD:8554872
RGD:7240710
PEROXISOME BIOGENESIS DISORDER 9B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PEX7 peroxisomal biogenesis factor 7 JBrowse link 6 136,821,683 136,913,934 RGD:8554872
RGD:7240710
Refsum disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PEX7 peroxisomal biogenesis factor 7 JBrowse link 6 136,821,683 136,913,934 RGD:8554872
RGD:11554173
G PHYH phytanoyl-CoA 2-hydroxylase JBrowse link 10 13,277,796 13,300,130 RGD:8554872
RGD:13831337
RGD:13831313
RGD:11554173
RGD:7240710
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 89,316,305 89,334,824 RGD:8694282
RGD:8554872
RGD:11554173
RGD:7240710
RGD:8694285
G PRICKLE2 prickle planar cell polarity protein 2 JBrowse link 3 64,092,236 64,445,476 RGD:8554872
G PRICKLE2-AS1 PRICKLE2 antisense RNA 1 JBrowse link 3 64,067,964 64,103,131 RGD:8554872
G PRICKLE2-AS3 PRICKLE2 antisense RNA 3 JBrowse link 3 64,187,544 64,201,561 RGD:8554872
G TWNK twinkle mtDNA helicase JBrowse link 10 100,987,543 100,994,403 RGD:8554872
RGD:11554173
Slowed Nerve Conduction Velocity, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARHGEF10 Rho guanine nucleotide exchange factor 10 JBrowse link 8 1,823,926 1,958,641 RGD:8554872
RGD:7240710
spastic ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TAPBPL TAP binding protein like JBrowse link 12 6,451,656 6,472,006 RGD:8554872
G VAMP1 vesicle associated membrane protein 1 JBrowse link 12 6,462,237 6,470,677 RGD:7240710
RGD:8554872
spastic ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 17 4,988,130 5,006,093 RGD:8554872
G KIF1C kinesin family member 1C JBrowse link 17 4,997,950 5,028,401 RGD:8554872
RGD:7240710
spastic ataxia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MARS2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 2 197,705,369 197,708,395 RGD:8554872
RGD:7240710
Spastic Paraplegia 78, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP13A2 ATPase cation transporting 13A2 JBrowse link 1 16,985,958 17,011,972 RGD:8554872
RGD:7240710
Spastic Paraplegia 79, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UCHL1 ubiquitin C-terminal hydrolase L1 JBrowse link 4 41,256,928 41,268,455 RGD:8554872
RGD:7240710
Spastic Paraplegia 80, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UBAP1 ubiquitin associated protein 1 JBrowse link 9 34,179,005 34,252,523 RGD:8554872
RGD:7240710
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIDINS220 kinase D interacting substrate 220 JBrowse link 2 8,721,081 8,837,613 RGD:8554872
RGD:7240710
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SOD1 superoxide dismutase 1 JBrowse link 21 31,659,693 31,668,931 RGD:8554872
RGD:7240710
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC1A4 solute carrier family 1 member 4 JBrowse link 2 64,988,479 65,023,865 RGD:8554872
RGD:7240710
SPOAN syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KLC2 kinesin light chain 2 JBrowse link 11 66,257,294 66,267,861 RGD:8554872
RGD:7240710
Troyer syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GRID2 glutamate ionotropic receptor delta type subunit 2 JBrowse link 4 92,303,622 93,810,415 RGD:8554872
G LNCPRESS2 lncRNA p53 regulated and ESC associated 2 JBrowse link 4 92,262,498 92,277,302 RGD:8554872
G SPART spartin JBrowse link 13 36,301,638 36,370,180 RGD:8554872
RGD:7240710
G SPART-AS1 SPART antisense RNA 1 JBrowse link 13 36,346,431 36,369,735 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16488
    disease of anatomical entity 15463
      nervous system disease 11718
        peripheral nervous system disease 2256
          neuropathy 2087
            motor peripheral neuropathy 497
              Alstrom syndrome 1
              Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 0
              Charcot-Marie-Tooth disease + 346
              Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy 0
              Giant Axonal Neuropathy + 10
              Hagemoser Weinstein Bresnick Syndrome 0
              Hereditary Motor and Sensory Neuropathy with Excessive Myelin Folding Complex, Autosomal Recessive 0
              Hereditary Motor and Sensory Neuropathy, Okinawa Type 1
              Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 0
              Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive 1
              Neuropathy, Hereditary Thermosensitive 0
              Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive 0
              Refsum disease + 9
              SPOAN syndrome 1
              Slowed Nerve Conduction Velocity, Autosomal Dominant 1
              Tamari Goodman Syndrome 0
              distal hereditary motor neuronopathy type 7 + 15
              essential tremor 2 1
              hereditary neuropathy with liability to pressure palsies 3
              hereditary spastic paraplegia + 125
              sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 5
Path 2
Term Annotations click to browse term
  disease 16488
    disease of anatomical entity 15463
      nervous system disease 11718
        central nervous system disease 9586
          neurodegenerative disease 2913
            Nervous System Heredodegenerative Disorders 1975
              motor peripheral neuropathy 497
                Alstrom syndrome 1
                Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 0
                Charcot-Marie-Tooth disease + 346
                Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy 0
                Giant Axonal Neuropathy + 10
                Hagemoser Weinstein Bresnick Syndrome 0
                Hereditary Motor and Sensory Neuropathy with Excessive Myelin Folding Complex, Autosomal Recessive 0
                Hereditary Motor and Sensory Neuropathy, Okinawa Type 1
                Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 0
                Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive 1
                Neuropathy, Hereditary Thermosensitive 0
                Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive 0
                Refsum disease + 9
                SPOAN syndrome 1
                Slowed Nerve Conduction Velocity, Autosomal Dominant 1
                Tamari Goodman Syndrome 0
                distal hereditary motor neuronopathy type 7 + 15
                essential tremor 2 1
                hereditary neuropathy with liability to pressure palsies 3
                hereditary spastic paraplegia + 125
                sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.