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PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (http://rgd.mcw.edu/contact/index.shtml).

Term:musculoskeletal disease pathway
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Accession:PW:0001593 term browser browse the term
Definition:Those conditions affecting the muscular and skeletal systems and elements associated with them, arising from deregulation in a number of pathways.



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congenital hemidysplasia with ichthyosiform erythroderma and limb defects pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00387 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00387 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00387 NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00387 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00387 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00387 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00387 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00387 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00387 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00387 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00387 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00387 NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00387 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00387 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00387 NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00387 NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00387 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00387 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00387 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00387 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00387 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00387 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
JBrowse link
Kelley-Seegmiller syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00365 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00365 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00365 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00365 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00365 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00365 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00365 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00365 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00365 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00365 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00365 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00365 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00365 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00365 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00365 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00365 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00365 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00365 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00365 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00365 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00365 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00365 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00365 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00365 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00365 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00365 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00365 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00365 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00365 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00365 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00365 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00365 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00365 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291
JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00365 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00365 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00365 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00365 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
methylenetetrahydrofolate reductase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00340 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00340 NCBI chr20:43,695,783...43,711,476
Ensembl chr20:43,697,237...43,711,476
JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00340 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742
JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00340 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00340 NCBI chr16:5,194,269...5,225,541
Ensembl chr16:5,194,269...5,225,537
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00340 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00340 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00340 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00340 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00340 NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493
JBrowse link
G Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit ISO SMPDB SMP:00340 NCBI chr10:25,106,928...25,122,982
Ensembl chr10:25,106,930...25,122,777
JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00340 NCBI chr17:81,974,378...82,000,044
Ensembl chr17:81,974,196...82,000,043
JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00340 NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00340 NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00340 NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00340 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00340 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00340 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820
JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00340 NCBI chr 5:159,025,875...159,029,076
Ensembl chr 5:159,025,873...159,029,405
JBrowse link
rheumatoid arthritis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant IEA KEGG rno:05323 NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929
JBrowse link
G Angpt1 angiopoietin 1 IEA KEGG rno:05323 NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 IEA KEGG rno:05323 NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034
JBrowse link
G Atp6v0a1 ATPase H+ transporting V0 subunit a1 IEA KEGG rno:05323 NCBI chr10:85,935,802...85,989,901
Ensembl chr10:85,935,854...85,989,895
JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 IEA KEGG rno:05323 NCBI chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069
JBrowse link
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 IEA KEGG rno:05323 NCBI chr 4:66,760,163...66,842,126
Ensembl chr 4:66,760,159...66,842,110
JBrowse link
G Atp6v0b ATPase H+ transporting V0 subunit B IEA KEGG rno:05323 NCBI chr 5:131,423,384...131,424,900
Ensembl chr 5:131,423,387...131,426,401
JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit C IEA KEGG rno:05323 NCBI chr10:13,196,204...13,202,580
Ensembl chr10:13,196,204...13,201,500
JBrowse link
G Atp6v0d1 ATPase H+ transporting V0 subunit D1 IEA KEGG rno:05323 NCBI chr19:33,403,352...33,447,357
Ensembl chr19:33,403,355...33,447,450
JBrowse link
G Atp6v0d2 ATPase H+ transporting V0 subunit D2 IEA KEGG rno:05323 NCBI chr 5:33,336,257...33,385,354
Ensembl chr 5:33,336,264...33,385,354
JBrowse link
G Atp6v0e1 ATPase H+ transporting V0 subunit e1 IEA KEGG rno:05323 NCBI chr10:16,479,656...16,502,732
Ensembl chr10:16,479,567...16,524,434
JBrowse link
G Atp6v0e2 ATPase, H+ transporting V0 subunit e2 IEA KEGG rno:05323 NCBI chr 4:77,484,868...77,488,016
Ensembl chr 4:77,482,226...77,488,777
JBrowse link
G Atp6v1a ATPase H+ transporting V1 subunit A IEA KEGG rno:05323 NCBI chr11:56,561,444...56,614,694
Ensembl chr11:56,560,974...56,614,694
JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 IEA KEGG rno:05323 NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 IEA KEGG rno:05323 NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
JBrowse link
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 IEA KEGG rno:05323 NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278
JBrowse link
G Atp6v1c2 ATPase H+ transporting V1 subunit C2 IEA KEGG rno:05323 NCBI chr 6:40,080,545...40,144,199
Ensembl chr 6:40,080,547...40,120,028
JBrowse link
G Atp6v1d ATPase H+ transporting V1 subunit D IEA KEGG rno:05323 NCBI chr 6:97,656,725...97,672,295
Ensembl chr 6:97,656,576...97,672,303
JBrowse link
G Atp6v1e1 ATPase H+ transporting V1 subunit E1 IEA KEGG rno:05323 NCBI chr 4:154,022,358...154,044,486
Ensembl chr 4:154,022,358...154,044,584
JBrowse link
G Atp6v1e2 ATPase H+ transporting V1 subunit E2 IEA KEGG rno:05323 NCBI chr 6:7,667,359...7,673,711
Ensembl chr 6:7,667,564...7,672,626
JBrowse link
G Atp6v1f ATPase H+ transporting V1 subunit F IEA KEGG rno:05323 NCBI chr 4:58,067,666...58,070,628 JBrowse link
G Atp6v1g1 ATPase H+ transporting V1 subunit G1 IEA KEGG rno:05323 NCBI chr 5:76,961,462...76,967,642
Ensembl chr 5:76,961,499...76,969,463
JBrowse link
G Atp6v1g2 ATPase H+ transporting V1 subunit G2 IEA KEGG rno:05323 NCBI chr20:3,587,681...3,591,309
Ensembl chr20:3,587,686...3,590,481
JBrowse link
G Atp6v1g3 ATPase H+ transporting V1 subunit G3 IEA KEGG rno:05323 NCBI chr13:49,800,256...49,825,247
Ensembl chr13:49,794,222...49,825,247
JBrowse link
G Atp6v1h ATPase H+ transporting V1 subunit H IEA KEGG rno:05323 NCBI chr 5:14,379,029...14,484,703
Ensembl chr 5:14,378,257...14,537,962
JBrowse link
G Ccl12 C-C motif chemokine ligand 12 IEA KEGG rno:05323 NCBI chr10:67,070,230...67,071,780
Ensembl chr10:67,070,230...67,071,780
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 IEA KEGG rno:05323 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 IEA KEGG rno:05323 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEA KEGG rno:05323 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Cd28 Cd28 molecule IEA KEGG rno:05323 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
JBrowse link
G Cd80 Cd80 molecule IEA KEGG rno:05323 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
JBrowse link
G Cd86 CD86 molecule IEA KEGG rno:05323 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Csf1 colony stimulating factor 1 IEA KEGG rno:05323 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Csf2 colony stimulating factor 2 IEA KEGG rno:05323 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 IEA KEGG rno:05323 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Ctsk cathepsin K IEA KEGG rno:05323 NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
JBrowse link
G Ctsl cathepsin L IEA KEGG rno:05323 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 IEA KEGG rno:05323 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 IEA KEGG rno:05323 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit IEA KEGG rno:05323 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEA KEGG rno:05323 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ifng interferon gamma IEA KEGG rno:05323 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il11 interleukin 11 IEA KEGG rno:05323 NCBI chr 1:69,069,829...69,076,129
Ensembl chr 1:69,068,137...69,076,129
JBrowse link
G Il15 interleukin 15 IEA KEGG rno:05323 NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
JBrowse link
G Il18 interleukin 18 IEA KEGG rno:05323 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1a interleukin 1 alpha IEA KEGG rno:05323 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta IEA KEGG rno:05323 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il23a interleukin 23 subunit alpha IEA KEGG rno:05323 NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
JBrowse link
G Il6 interleukin 6 IEA KEGG rno:05323 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Itgal integrin subunit alpha L IEA KEGG rno:05323 NCBI chr 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732
JBrowse link
G Itgb2 integrin subunit beta 2 IEA KEGG rno:05323 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit IEA KEGG rno:05323 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
JBrowse link
G Ltb lymphotoxin beta IEA KEGG rno:05323 NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381
JBrowse link
G Mmp1 matrix metallopeptidase 1 IEA KEGG rno:05323 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp3 matrix metallopeptidase 3 IEA KEGG rno:05323 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Pgf placental growth factor IEA KEGG rno:05323 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
JBrowse link
G RT1-Ba RT1 class II, locus Ba IEA KEGG rno:05323 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb IEA KEGG rno:05323 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Da RT1 class II, locus Da IEA KEGG rno:05323 NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 IEA KEGG rno:05323 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G RT1-DMa RT1 class II, locus DMa IEA KEGG rno:05323 NCBI chr20:4,707,028...4,710,432
Ensembl chr20:4,707,028...4,710,432
JBrowse link
G RT1-DMb RT1 class II, locus DMb IEA KEGG rno:05323 NCBI chr20:4,693,102...4,700,340
Ensembl chr20:4,693,103...4,700,340
JBrowse link
G RT1-DOa RT1 class II, locus DOa IEA KEGG rno:05323 NCBI chr20:4,753,587...4,756,590
Ensembl chr20:4,753,598...4,756,577
JBrowse link
G RT1-DOb RT1 class II, locus DOb IEA KEGG rno:05323 NCBI chr20:4,619,418...4,625,627
Ensembl chr20:4,619,816...4,625,667
JBrowse link
G RT1-Ha RT1 class II, locus Ha IEA KEGG rno:05323 NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 IEA KEGG rno:05323 NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
JBrowse link
G Tek TEK receptor tyrosine kinase IEA KEGG rno:05323 NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEA KEGG rno:05323 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tgfb2 transforming growth factor, beta 2 IEA KEGG rno:05323 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
JBrowse link
G Tgfb3 transforming growth factor, beta 3 IEA KEGG rno:05323 NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
JBrowse link
G Tlr2 toll-like receptor 2 IEA KEGG rno:05323 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 IEA KEGG rno:05323 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnf tumor necrosis factor IEA KEGG rno:05323 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A IEA KEGG rno:05323 NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
JBrowse link
G Tnfsf11 TNF superfamily member 11 IEA KEGG rno:05323 NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445
JBrowse link
G Tnfsf13 TNF superfamily member 13 IEA KEGG rno:05323 NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
JBrowse link
G Tnfsf13b TNF superfamily member 13b IEA KEGG rno:05323 NCBI chr16:79,462,406...79,492,888
Ensembl chr16:79,462,402...79,492,693
JBrowse link
G Vegfa vascular endothelial growth factor A IEA KEGG rno:05323 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vegfb vascular endothelial growth factor B IEA KEGG rno:05323 NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944
JBrowse link
very long-chain acyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00540 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249
JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00540 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00540 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00540 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00540 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00540 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00540 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00540 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00540 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00540 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00540 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00540 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00540 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00540 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
JBrowse link
X-linked dominant chondrodysplasia punctata 2 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00388 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00388 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00388 NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00388 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00388 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00388 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00388 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00388 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00388 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00388 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00388 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00388 NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00388 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00388 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00388 NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00388 NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00388 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00388 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00388 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00388 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00388 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00388 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      musculoskeletal disease pathway 171
        arthritis pathway + 116
        bone disease pathway + 22
        congenital limb deformities pathway + 22
        muscular disease pathway + 19
        very long-chain acyl-CoA dehydrogenase deficiency pathway 14
paths to the root