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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 1:47,972,399...47,992,654
Ensembl chr 1:47,972,399...47,992,653
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00387 NCBI chr 4:27,175,564...27,194,018
Ensembl chr 4:27,175,243...27,194,018
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00387 NCBI chr 5:126,164,708...126,188,926
Ensembl chr 5:126,164,674...126,191,206
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00387 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00387 NCBI chr15:46,339,248...46,367,302
Ensembl chr15:46,339,249...46,367,302
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00387 NCBI chr 2:188,403,595...188,413,219
Ensembl chr 2:188,392,858...188,413,219
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00387 NCBI chr17:53,956,185...53,971,039
Ensembl chr17:53,956,203...53,971,443
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00387 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00387 NCBI chr 2:52,427,351...52,445,082
Ensembl chr 2:52,431,601...52,445,055
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00387 NCBI chr13:88,288,116...88,308,019
Ensembl chr13:88,288,046...88,307,988
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00387 NCBI chr17:57,976,266...57,984,036
Ensembl chr17:57,976,268...57,984,036
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00387 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00387 NCBI chr20:12,844,522...12,870,474
Ensembl chr20:12,842,884...12,870,497
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00387 NCBI chr16:26,859,441...26,875,880
Ensembl chr16:26,859,397...26,875,973
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00387 NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00387 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00387 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00387 NCBI chr 2:188,784,329...188,793,890
Ensembl chr 2:188,784,222...188,793,895
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00387 NCBI chr 8:46,525,406...46,537,014
Ensembl chr 8:46,525,400...46,537,050
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00387 NCBI chr13:74,035,258...74,077,759
Ensembl chr13:74,035,080...74,077,783
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00387 NCBI chr 7:99,609,929...99,624,803
Ensembl chr 7:99,609,191...99,624,732
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00387 NCBI chr 1:221,426,017...221,430,340
Ensembl chr 1:221,425,987...221,431,713
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 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00365 NCBI chr13:83,701,952...83,787,010
Ensembl chr13:83,721,300...83,787,018
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00365 NCBI chr 7:122,157,201...122,192,328
Ensembl chr 7:122,157,201...122,192,328
JBrowse link
G Adss adenylosuccinate synthase ISO SMPDB SMP:00365 NCBI chr13:95,913,426...95,943,761
Ensembl chr13:95,913,426...95,943,761
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00365 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00365 NCBI chr 2:205,568,934...205,589,961
Ensembl chr 2:205,568,935...205,590,021
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00365 NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00365 NCBI chr 1:251,234,702...251,386,996
Ensembl chr 1:251,235,508...251,387,002
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00365 NCBI chr 9:78,862,013...78,882,061
Ensembl chr 9:78,862,013...78,882,060
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00365 NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00365 NCBI chr 6:108,087,677...108,123,811
Ensembl chr 6:108,087,418...108,120,579
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00365 NCBI chr 3:2,286,363...2,299,720
Ensembl chr 3:2,288,667...2,302,782
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00365 NCBI chr11:31,780,477...31,805,728
Ensembl chr11:31,780,487...31,805,728
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00365 NCBI chr 1:238,982,542...239,057,663
Ensembl chr 1:238,982,392...239,057,732
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00365 NCBI chr17:19,543,274...19,580,929
Ensembl chr17:19,543,275...19,580,929
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00365 NCBI chr 2:154,555,967...154,590,662
Ensembl chr 2:154,555,871...154,590,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00365 NCBI chr 8:408,001...899,851
Ensembl chr 8:408,001...899,974
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00365 NCBI chr 2:180,976,939...181,026,001
Ensembl chr 2:180,976,939...181,026,024
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00365 NCBI chr10:45,535,617...45,552,455
Ensembl chr10:45,535,627...45,543,897
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00365 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00365 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00365 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00365 NCBI chr 8:117,920,912...117,928,148
Ensembl chr 8:117,920,944...117,928,195
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00365 NCBI chr 1:266,652,966...266,782,935
Ensembl chr 1:266,659,519...266,782,910
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00365 NCBI chr 5:57,845,819...57,860,658
Ensembl chr 5:57,845,819...57,860,658
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00365 NCBI chr17:76,387,027...76,410,309
Ensembl chr17:76,387,031...76,410,294
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00365 NCBI chr14:33,563,884...33,580,944
Ensembl chr14:33,563,886...33,580,566
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00365 NCBI chr 1:52,360,296...52,544,448
Ensembl chr 1:52,360,296...52,544,450
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00365 NCBI chr 2:40,219,999...41,468,551
Ensembl chr 2:40,554,146...41,464,264
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00365 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00365 NCBI chr15:27,875,883...27,883,566
Ensembl chr15:27,875,911...27,883,350
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00365 NCBI chr14:33,580,541...33,614,919
Ensembl chr14:33,580,541...33,614,919
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00365 NCBI chr 6:54,417,903...54,419,593
Ensembl chr 6:54,417,903...54,419,593
JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00365 NCBI chr 1:167,538,387...167,562,688
Ensembl chr 1:167,538,263...167,562,688
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00365 NCBI chr 6:43,884,627...43,890,818
Ensembl chr 6:43,884,678...43,889,515
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00365 NCBI chr 5:75,049,735...75,057,731
Ensembl chr 5:75,049,747...75,057,752
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00365 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00340 NCBI chr20:45,384,000...45,399,694
Ensembl chr20:45,384,000...45,399,694
JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00340 NCBI chr 2:23,236,573...23,256,158
Ensembl chr 2:23,236,575...23,256,158
JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00340 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00340 NCBI chr16:6,078,083...6,109,386
Ensembl chr16:6,078,122...6,109,382
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00340 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00340 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00340 NCBI chr 1:100,811,727...100,836,901
Ensembl chr 1:100,830,064...100,836,677
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00340 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310
JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00340 NCBI chr 4:100,297,478...100,303,047
Ensembl chr 4:100,296,075...100,303,080
JBrowse link
G Mat2b methionine adenosyltransferase 2B ISO SMPDB SMP:00340 NCBI chr10:25,832,096...25,848,045
Ensembl chr10:25,832,072...25,847,994
JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00340 NCBI chr17:86,066,841...86,148,131
Ensembl chr17:86,066,833...86,148,130
JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00340 NCBI chr 7:62,850,506...62,972,487
Ensembl chr 7:62,850,515...62,972,084
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00340 NCBI chr 5:107,711,077...107,777,530
Ensembl chr 5:107,711,077...107,777,530
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00340 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00340 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00340 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00340 NCBI chr10:47,030,813...47,059,216
Ensembl chr10:47,031,050...47,059,216
JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00340 NCBI chr 5:165,405,168...165,408,325
Ensembl chr 5:165,405,168...165,408,320
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 8:23,142,733...23,149,067
Ensembl chr 8:23,142,734...23,148,396
JBrowse link
G Angpt1 angiopoietin 1 IEA KEGG rno:05323 NCBI chr 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 IEA KEGG rno:05323 NCBI chr  X:156,407,973...156,415,053
Ensembl chr  X:156,407,937...156,415,145
JBrowse link
G Atp6v0a1 ATPase H+ transporting V0 subunit a1 IEA KEGG rno:05323 NCBI chr10:88,914,264...88,967,736
Ensembl chr10:88,914,276...88,967,748
JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 IEA KEGG rno:05323 NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 IEA KEGG rno:05323 NCBI chr 4:65,736,585...65,821,916
Ensembl chr 4:65,736,585...65,818,521
JBrowse link
G Atp6v0b ATPase H+ transporting V0 subunit B IEA KEGG rno:05323 NCBI chr 5:136,718,352...136,719,868
Ensembl chr 5:136,718,352...136,721,379
JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit C IEA KEGG rno:05323 NCBI chr10:13,537,031...13,543,407
Ensembl chr10:13,537,033...13,542,077
JBrowse link
G Atp6v0d1 ATPase H+ transporting V0 subunit D1 IEA KEGG rno:05323 NCBI chr19:37,481,782...37,525,762
Ensembl chr19:37,481,782...37,525,762
JBrowse link
G Atp6v0d2 ATPase H+ transporting V0 subunit D2 IEA KEGG rno:05323 NCBI chr 5:33,843,591...33,892,446
Ensembl chr 5:33,843,519...33,892,462
JBrowse link
G Atp6v0e1 ATPase H+ transporting V0 subunit e1 IEA KEGG rno:05323 NCBI chr10:16,769,857...16,792,930
Ensembl chr10:16,769,666...16,792,909
JBrowse link
G Atp6v0e2 ATPase, H+ transporting V0 subunit e2 IEA KEGG rno:05323 NCBI chr 4:78,168,117...78,171,265
Ensembl chr 4:78,168,117...78,171,265
JBrowse link
G Atp6v1a ATPase H+ transporting V1 subunit A IEA KEGG rno:05323 NCBI chr11:61,531,386...61,584,634
Ensembl chr11:61,531,416...61,584,634
JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 IEA KEGG rno:05323 NCBI chr 4:115,417,100...115,435,754
Ensembl chr 4:115,416,580...115,437,206
JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 IEA KEGG rno:05323 NCBI chr16:22,326,537...22,350,143
Ensembl chr16:22,326,529...22,350,155
JBrowse link
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 IEA KEGG rno:05323 NCBI chr 7:77,678,853...77,716,658
Ensembl chr 7:77,678,968...77,716,408
JBrowse link
G Atp6v1c2 ATPase H+ transporting V1 subunit C2 IEA KEGG rno:05323 NCBI chr 6:42,585,452...42,632,289
Ensembl chr 6:42,585,934...42,630,983
JBrowse link
G Atp6v1d ATPase H+ transporting V1 subunit D IEA KEGG rno:05323 NCBI chr 6:102,032,271...102,047,754
Ensembl chr 6:102,032,276...102,047,758
JBrowse link
G Atp6v1e1 ATPase H+ transporting V1 subunit E1 IEA KEGG rno:05323 NCBI chr 4:153,351,434...153,373,558
Ensembl chr 4:153,351,421...153,373,649
JBrowse link
G Atp6v1e2 ATPase H+ transporting V1 subunit E2 IEA KEGG rno:05323 NCBI chr 6:10,510,370...10,517,059
Ensembl chr 6:10,511,452...10,515,370
JBrowse link
G Atp6v1f ATPase H+ transporting V1 subunit F IEA KEGG rno:05323 NCBI chr 4:56,744,563...56,747,657
Ensembl chr 4:56,744,561...56,747,656
JBrowse link
G Atp6v1g1 ATPase H+ transporting V1 subunit G1 IEA KEGG rno:05323 NCBI chr 5:79,367,663...79,373,843
Ensembl chr 5:79,367,663...79,373,843
JBrowse link
G Atp6v1g2 ATPase H+ transporting V1 subunit G2 IEA KEGG rno:05323 NCBI chr20:4,821,265...4,824,829
Ensembl chr20:4,821,285...4,823,494
JBrowse link
G Atp6v1g3 ATPase H+ transporting V1 subunit G3 IEA KEGG rno:05323 NCBI chr13:55,265,794...55,288,651
Ensembl chr13:55,274,199...55,288,651
JBrowse link
G Atp6v1h ATPase H+ transporting V1 subunit H IEA KEGG rno:05323 NCBI chr 5:14,262,352...14,367,898
Ensembl chr 5:14,262,349...14,367,898
JBrowse link
G Ccl12 chemokine (C-C motif) ligand 12 IEA KEGG rno:05323 NCBI chr10:69,476,866...69,478,416
Ensembl chr10:69,476,775...69,478,462
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 IEA KEGG rno:05323 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 IEA KEGG rno:05323 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEA KEGG rno:05323 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Cd28 Cd28 molecule IEA KEGG rno:05323 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cd80 Cd80 molecule IEA KEGG rno:05323 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Cd86 CD86 molecule IEA KEGG rno:05323 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Csf1 colony stimulating factor 1 IEA KEGG rno:05323 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
JBrowse link
G Csf2 colony stimulating factor 2 IEA KEGG rno:05323 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 IEA KEGG rno:05323 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Ctsk cathepsin K IEA KEGG rno:05323 NCBI chr 2:196,655,469...196,666,447
Ensembl chr 2:196,655,469...196,666,446
JBrowse link
G Ctsl cathepsin L IEA KEGG rno:05323 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 IEA KEGG rno:05323 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 IEA KEGG rno:05323 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit IEA KEGG rno:05323 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEA KEGG rno:05323 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma IEA KEGG rno:05323 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il11 interleukin 11 IEA KEGG rno:05323 NCBI chr 1:72,636,959...72,643,255
Ensembl chr 1:72,635,267...72,643,255
JBrowse link
G Il15 interleukin 15 IEA KEGG rno:05323 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il18 interleukin 18 IEA KEGG rno:05323 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha IEA KEGG rno:05323 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta IEA KEGG rno:05323 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il23a interleukin 23 subunit alpha IEA KEGG rno:05323 NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
JBrowse link
G Il6 interleukin 6 IEA KEGG rno:05323 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Itgal integrin subunit alpha L IEA KEGG rno:05323 NCBI chr 1:198,744,053...198,781,745
Ensembl chr 1:198,744,050...198,781,750
JBrowse link
G Itgb2 integrin subunit beta 2 IEA KEGG rno:05323 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit IEA KEGG rno:05323 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Ltb lymphotoxin beta IEA KEGG rno:05323 NCBI chr20:5,184,631...5,186,476
Ensembl chr20:5,184,515...5,186,503
JBrowse link
G Mmp1 matrix metallopeptidase 1 IEA KEGG rno:05323 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp3 matrix metallopeptidase 3 IEA KEGG rno:05323 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Pgf placental growth factor IEA KEGG rno:05323 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G RT1-Ba RT1 class II, locus Ba IEA KEGG rno:05323 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb IEA KEGG rno:05323 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Da RT1 class II, locus Da IEA KEGG rno:05323 NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 IEA KEGG rno:05323 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G RT1-DMa RT1 class II, locus DMa IEA KEGG rno:05323 NCBI chr20:3,935,512...3,938,915
Ensembl chr20:5,240,975...5,244,386
JBrowse link
G RT1-DMb RT1 class II, locus DMb IEA KEGG rno:05323 NCBI chr20:3,945,383...3,952,838
Ensembl chr20:5,227,045...5,234,290
JBrowse link
G RT1-DOa RT1 class II, locus DOa IEA KEGG rno:05323 NCBI chr20:3,889,106...3,892,360
Ensembl chr20:3,889,370...3,892,449
JBrowse link
G RT1-DOb RT1 class II, locus DOb IEA KEGG rno:05323 NCBI chr20:4,020,273...4,026,398
Ensembl chr20:4,020,317...4,026,346
JBrowse link
G RT1-Ha RT1 class II, locus Ha IEA KEGG rno:05323 NCBI chr20:3,875,478...3,885,140
Ensembl chr20:3,875,706...3,881,461
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 IEA KEGG rno:05323 NCBI chr 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464
JBrowse link
G Tek TEK receptor tyrosine kinase IEA KEGG rno:05323 NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEA KEGG rno:05323 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tgfb2 transforming growth factor, beta 2 IEA KEGG rno:05323 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Tgfb3 transforming growth factor, beta 3 IEA KEGG rno:05323 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Tlr2 toll-like receptor 2 IEA KEGG rno:05323 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 IEA KEGG rno:05323 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor IEA KEGG rno:05323 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A IEA KEGG rno:05323 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
JBrowse link
G Tnfsf11 TNF superfamily member 11 IEA KEGG rno:05323 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
JBrowse link
G Tnfsf13 TNF superfamily member 13 IEA KEGG rno:05323 NCBI chr10:56,286,964...56,290,680
Ensembl chr10:56,286,887...56,289,952
JBrowse link
G Tnfsf13b TNF superfamily member 13b IEA KEGG rno:05323 NCBI chr16:85,275,690...85,306,419
Ensembl chr16:85,275,678...85,306,366
JBrowse link
G Vegfa vascular endothelial growth factor A IEA KEGG rno:05323 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vegfb vascular endothelial growth factor B IEA KEGG rno:05323 NCBI chr 1:222,237,000...222,242,786
Ensembl chr 1:222,239,022...222,242,644
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 chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00540 NCBI chr 9:73,833,368...73,871,857
Ensembl chr 9:73,833,388...73,871,888
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00540 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00540 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00540 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00540 NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00540 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00540 NCBI chr16:48,937,456...49,003,898
Ensembl chr16:48,937,456...49,003,246
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00540 NCBI chr 1:218,568,157...218,629,679
Ensembl chr 1:218,569,510...218,629,678
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00540 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00540 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00540 NCBI chr19:26,000,497...26,006,970
Ensembl chr19:26,000,497...26,006,970
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00540 NCBI chr 6:27,589,840...27,628,921
Ensembl chr 6:27,589,657...27,629,175
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00540 NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
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 1:47,972,399...47,992,654
Ensembl chr 1:47,972,399...47,992,653
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00388 NCBI chr 4:27,175,564...27,194,018
Ensembl chr 4:27,175,243...27,194,018
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00388 NCBI chr 5:126,164,708...126,188,926
Ensembl chr 5:126,164,674...126,191,206
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00388 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00388 NCBI chr15:46,339,248...46,367,302
Ensembl chr15:46,339,249...46,367,302
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00388 NCBI chr 2:188,403,595...188,413,219
Ensembl chr 2:188,392,858...188,413,219
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00388 NCBI chr17:53,956,185...53,971,039
Ensembl chr17:53,956,203...53,971,443
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00388 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00388 NCBI chr 2:52,427,351...52,445,082
Ensembl chr 2:52,431,601...52,445,055
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00388 NCBI chr13:88,288,116...88,308,019
Ensembl chr13:88,288,046...88,307,988
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00388 NCBI chr17:57,976,266...57,984,036
Ensembl chr17:57,976,268...57,984,036
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00388 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00388 NCBI chr20:12,844,522...12,870,474
Ensembl chr20:12,842,884...12,870,497
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00388 NCBI chr16:26,859,441...26,875,880
Ensembl chr16:26,859,397...26,875,973
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00388 NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00388 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00388 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00388 NCBI chr 2:188,784,329...188,793,890
Ensembl chr 2:188,784,222...188,793,895
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00388 NCBI chr 8:46,525,406...46,537,014
Ensembl chr 8:46,525,400...46,537,050
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00388 NCBI chr13:74,035,258...74,077,759
Ensembl chr13:74,035,080...74,077,783
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00388 NCBI chr 7:99,609,929...99,624,803
Ensembl chr 7:99,609,191...99,624,732
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00388 NCBI chr 1:221,426,017...221,430,340
Ensembl chr 1:221,425,987...221,431,713
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6103
    disease pathway 1953
      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

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