Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:disease pathway
go back to main search page
Accession:PW:0000013 term browser browse the term
Definition:Complex human diseases encompass a spectrum of genetic and environmental attributes that together affect the normal functioning of several molecular and cellular pathways. Their combined and accumulated effect is manifested in the anomalous phenotype of the complex condition.
Synonyms:related_synonym: Disease;   complex human diseases
 alt_id: Reactome:R-HSA-1643685


show annotations for term's descendants           Sort by:
 
11-beta-hydroxylase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO SMPDB SMP:00575 NCBI chr30:37,474,997...37,487,028
Ensembl chr30:37,473,901...37,487,507
JBrowse link
G CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 ISO SMPDB SMP:00575 NCBI chr13:36,866,476...36,880,625 JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO SMPDB SMP:00575 NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852
JBrowse link
G CYP21A2 cytochrome P450c21 ISO SMPDB SMP:00575 NCBI chr12:1,450,677...1,453,700
Ensembl chr12:1,450,677...1,453,734
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00575 NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00575 NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991
JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00575 NCBI chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062
JBrowse link
G LOC491379 3-oxo-5-beta-steroid 4-dehydrogenase-like ISO SMPDB SMP:00575 NCBI chr16:13,877,657...14,047,474 JBrowse link
17-alpha-hydroxylase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO SMPDB SMP:00372 NCBI chr30:37,474,997...37,487,028
Ensembl chr30:37,473,901...37,487,507
JBrowse link
G CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 ISO SMPDB SMP:00372 NCBI chr13:36,866,476...36,880,625 JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO SMPDB SMP:00372 NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852
JBrowse link
G CYP21A2 cytochrome P450c21 ISO SMPDB SMP:00372 NCBI chr12:1,450,677...1,453,700
Ensembl chr12:1,450,677...1,453,734
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00372 NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00372 NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991
JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00372 NCBI chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062
JBrowse link
G LOC491379 3-oxo-5-beta-steroid 4-dehydrogenase-like ISO SMPDB SMP:00372 NCBI chr16:13,877,657...14,047,474 JBrowse link
2-aminoadipic 2-oxoadipic aciduria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AADAT aminoadipate aminotransferase ISO SMPDB SMP:00719 NCBI chr25:20,920,118...20,944,251
Ensembl chr25:20,920,139...20,945,387
JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00719 NCBI chr14:59,950,123...59,993,457
Ensembl chr14:59,951,216...60,000,212
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00719 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00719 NCBI chr11:15,828,581...15,878,556
Ensembl chr11:15,815,936...15,878,516
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00719 NCBI chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00719 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00719 NCBI chr 8:48,003,730...48,025,001
Ensembl chr 8:48,002,211...48,024,999
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00719 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr32:28,460,445...28,506,141
Ensembl chr32:28,460,193...28,531,280
JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00719 NCBI chr 9:43,200,343...43,212,288
Ensembl chr 9:43,200,371...43,212,288
JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00719 NCBI chr 2:36,286,080...36,287,619
Ensembl chr 2:36,286,584...36,287,489
JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00719 NCBI chr16:40,855,270...40,879,956
Ensembl chr16:40,745,458...40,875,106
JBrowse link
2-hydroxyglutaric aciduria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00136 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00136 NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540
JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00136 NCBI chr35:22,560,005...22,590,996
Ensembl chr35:22,560,008...22,587,875
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00136 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00136 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00136 NCBI chr 6:22,276,189...22,299,865
Ensembl chr 6:22,276,230...22,297,428
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00136 NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00136 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00136 NCBI chr 6:55,204,602...55,244,217 JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00136 NCBI chr10:68,067,817...68,125,001
Ensembl chr10:68,073,062...68,125,007
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00136 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00136 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GLUL glutamate-ammonia ligase ISO SMPDB SMP:00136 NCBI chr 7:15,730,898...15,740,241
Ensembl chr 7:15,730,898...15,740,241
JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00136 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199
JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00136 NCBI chr 8:28,992,173...29,005,511
Ensembl chr 8:28,993,227...29,005,435
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00136 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00136 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156
JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00136 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00136 NCBI chr24:23,973,807...24,000,281
Ensembl chr24:23,901,045...23,997,286
JBrowse link
G NADSYN1 NAD synthetase 1 ISO SMPDB SMP:00136 NCBI chr18:47,216,547...47,254,582
Ensembl chr18:47,216,577...47,254,514
JBrowse link
G NAGK N-acetylglucosamine kinase ISO SMPDB SMP:00136 NCBI chr17:51,367,477...51,376,461 JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00136 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00136 NCBI chr20:40,077,856...40,085,100
Ensembl chr20:40,078,163...40,085,099
JBrowse link
21-alpha-hydroxylase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO SMPDB SMP:00373 NCBI chr30:37,474,997...37,487,028
Ensembl chr30:37,473,901...37,487,507
JBrowse link
G CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 ISO SMPDB SMP:00373 NCBI chr13:36,866,476...36,880,625 JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO SMPDB SMP:00373 NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852
JBrowse link
G CYP21A2 cytochrome P450c21 ISO SMPDB SMP:00373 NCBI chr12:1,450,677...1,453,700
Ensembl chr12:1,450,677...1,453,734
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00373 NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00373 NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991
JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00373 NCBI chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062
JBrowse link
G LOC491379 3-oxo-5-beta-steroid 4-dehydrogenase-like ISO SMPDB SMP:00373 NCBI chr16:13,877,657...14,047,474 JBrowse link
3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00138 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00138 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00138 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00138 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00138 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00138 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00138 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00138 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00138 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00138 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00138 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00138 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00138 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00138 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00138 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00138 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00138 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00138 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00138 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00138 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00138 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00138 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00138 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150
JBrowse link
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00138 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00138 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00138 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00138 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00138 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00138 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00138 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366
JBrowse link
3-hydroxyacyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00568 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00568 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00568 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00568 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ACSS3 acyl-CoA synthetase short chain family member 3 ISO SMPDB SMP:00568 NCBI chr15:23,337,386...23,480,766
Ensembl chr15:23,338,432...23,478,593
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00568 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00568 NCBI chr32:28,460,445...28,506,141
Ensembl chr32:28,460,193...28,531,280
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00568 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574
JBrowse link
3-hydroxyisobutyric aciduria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00521, SMP:00522 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00521, SMP:00522 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00521, SMP:00522 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00521, SMP:00522 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00521, SMP:00522 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00521, SMP:00522 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00521, SMP:00522 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00521, SMP:00522 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00521, SMP:00522 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00521, SMP:00522 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00521, SMP:00522 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00521, SMP:00522 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00521, SMP:00522 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150
JBrowse link
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00521, SMP:00522 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00521, SMP:00522 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00521, SMP:00522 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366
JBrowse link
3-methylcrotonyl CoA carboxylase 1 deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00237 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00237 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00237 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00237 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00237 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00237 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00237 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00237 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00237 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00237 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00237 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00237 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00237 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00237 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150
JBrowse link
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00237 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00237 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00237 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00237 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00237 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00237 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00237 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366
JBrowse link
3-methylglutaconic aciduria type 1 pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00139 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00139 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00139 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00139 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00139 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00139 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00139 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00139 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00139 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00139 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00139 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00139 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00139 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00139 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00139 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00139 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00139 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00139 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00139 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00139 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00139 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00139 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00139 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150
JBrowse link
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00139 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00139 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00139 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00139 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00139 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00139 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00139 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366
JBrowse link
3-methylglutaconic aciduria type 3 pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00140 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00140 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00140 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00140 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00140 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00140 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00140 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00140 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00140 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00140 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00140 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00140 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00140 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00140 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00140 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00140 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00140 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00140 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00140 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00140 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00140 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00140 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00140 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150
JBrowse link
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00140 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00140 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00140 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00140 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00140 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00140 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00140 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366
JBrowse link
acute intermittent porphyria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAD aminolevulinate dehydratase ISO SMPDB SMP:00344 NCBI chr11:67,736,643...67,752,399
Ensembl chr11:67,741,390...67,752,321
JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00344 NCBI chr20:37,552,813...37,566,417
Ensembl chr20:37,552,814...37,566,638
JBrowse link
G BLVRA biliverdin reductase A ISO SMPDB SMP:00344 NCBI chr18:6,424,833...6,506,399
Ensembl chr18:6,426,255...6,495,647
JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO SMPDB SMP:00344 NCBI chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243
JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 ISO SMPDB SMP:00344 NCBI chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087
JBrowse link
G CPOX coproporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr33:5,446,022...5,459,152
Ensembl chr33:5,447,414...5,459,461
JBrowse link
G FECH ferrochelatase ISO SMPDB SMP:00344 NCBI chr 1:18,352,184...18,384,251
Ensembl chr 1:18,345,811...18,383,092
JBrowse link
G GUSB glucuronidase beta ISO SMPDB SMP:00344 NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424
JBrowse link
G HMBS hydroxymethylbilane synthase ISO SMPDB SMP:00344 NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082
JBrowse link
G HMOX1 heme oxygenase 1 ISO SMPDB SMP:00344 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
JBrowse link
G LOC481426 ferritin heavy chain-like ISO SMPDB SMP:00344 NCBI chr11:8,955,374...8,956,762 JBrowse link
G PPOX protoporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr38:21,306,973...21,310,892
Ensembl chr38:21,306,974...21,311,012
JBrowse link
G UROD uroporphyrinogen decarboxylase ISO SMPDB SMP:00344 NCBI chr15:15,313,808...15,317,130
Ensembl chr15:15,312,674...15,320,010
JBrowse link
G UROS uroporphyrinogen III synthase ISO SMPDB SMP:00344 NCBI chr28:34,952,074...34,983,532
Ensembl chr28:34,948,003...34,983,532
JBrowse link
adenine phoshoribosyltransferase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO SMPDB SMP:00535 NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160
JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00535 NCBI chr 7:30,576,445...30,660,926
Ensembl chr 7:30,577,591...30,660,926
JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00535 NCBI chr10:24,813,854...24,832,115 JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00535 NCBI chr 7:35,440,250...35,477,470
Ensembl chr 7:35,440,676...35,476,795
JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00535 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00535 NCBI chr17:52,377,411...52,399,525
Ensembl chr17:52,377,402...52,399,520
JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00535 NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00535 NCBI chr26:37,749,799...37,811,490
Ensembl chr26:37,750,649...37,794,149
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00535 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697
JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00535 NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782
JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00535 NCBI chr 8:47,193,463...47,245,865
Ensembl chr 8:47,196,439...47,229,964
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00535 NCBI chr 9:48,301,499...48,306,210
Ensembl chr 9:48,303,206...48,305,992
JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00535 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163
JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00535 NCBI chr35:15,400,937...15,449,157
Ensembl chr35:15,401,003...15,448,022
JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00535 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00535 NCBI chr 5:25,291,019...25,718,918
Ensembl chr 5:25,291,583...25,686,947
JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00535 NCBI chr15:53,266,243...53,312,109
Ensembl chr15:53,265,350...53,312,111
JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00535 NCBI chr14:820,048...826,694
Ensembl chr14:820,093...827,250
JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00535 NCBI chr  X:105,115,732...105,153,702
Ensembl chr  X:105,115,732...105,153,702
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00535 NCBI chr14:8,001,575...8,013,181
Ensembl chr14:7,996,717...8,012,467
JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00535 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163
JBrowse link
G LOC100687127 thioredoxin-like ISO SMPDB SMP:00535 NCBI chr  X:82,986,288...82,986,753 JBrowse link
G LOC487740 trifunctional purine biosynthetic protein adenosine-3 ISO SMPDB SMP:00535 NCBI chr31:29,032,399...29,063,706 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00535 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00535 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235
JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00535 NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178
JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00535 NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469
JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00535 NCBI chr13:48,296,232...48,682,650 JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00535 NCBI chr 1:53,457,781...54,049,735
Ensembl chr 1:53,462,979...53,801,966
JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00535 NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00535 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287
JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00535 NCBI chr15:17,808,454...17,815,987
Ensembl chr15:17,808,461...17,815,676
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00535 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780
JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00535 NCBI chr21:26,595,838...26,631,476
Ensembl chr21:26,595,914...26,631,135
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00535 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939
JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00535 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935
JBrowse link
adenosine monophosphate deaminase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO SMPDB SMP:00537 NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160
JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00537 NCBI chr 7:30,576,445...30,660,926
Ensembl chr 7:30,577,591...30,660,926
JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00537 NCBI chr10:24,813,854...24,832,115 JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00537 NCBI chr 7:35,440,250...35,477,470
Ensembl chr 7:35,440,676...35,476,795
JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00537 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00537 NCBI chr17:52,377,411...52,399,525
Ensembl chr17:52,377,402...52,399,520
JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00537 NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00537 NCBI chr26:37,749,799...37,811,490
Ensembl chr26:37,750,649...37,794,149
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00537 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697
JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00537 NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782
JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00537 NCBI chr 8:47,193,463...47,245,865
Ensembl chr 8:47,196,439...47,229,964
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00537 NCBI chr 9:48,301,499...48,306,210
Ensembl chr 9:48,303,206...48,305,992
JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00537 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163
JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00537 NCBI chr35:15,400,937...15,449,157
Ensembl chr35:15,401,003...15,448,022
JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00537 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00537 NCBI chr 5:25,291,019...25,718,918
Ensembl chr 5:25,291,583...25,686,947
JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00537 NCBI chr15:53,266,243...53,312,109
Ensembl chr15:53,265,350...53,312,111
JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00537 NCBI chr14:820,048...826,694
Ensembl chr14:820,093...827,250
JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00537 NCBI chr  X:105,115,732...105,153,702
Ensembl chr  X:105,115,732...105,153,702
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00537 NCBI chr14:8,001,575...8,013,181
Ensembl chr14:7,996,717...8,012,467
JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00537 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163
JBrowse link
G LOC100687127 thioredoxin-like ISO SMPDB SMP:00537 NCBI chr  X:82,986,288...82,986,753 JBrowse link
G LOC487740 trifunctional purine biosynthetic protein adenosine-3 ISO SMPDB SMP:00537 NCBI chr31:29,032,399...29,063,706 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00537 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00537 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235
JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00537 NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178
JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00537 NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469
JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00537 NCBI chr13:48,296,232...48,682,650 JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00537 NCBI chr 1:53,457,781...54,049,735
Ensembl chr 1:53,462,979...53,801,966
JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00537 NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00537 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287
JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00537 NCBI chr15:17,808,454...17,815,987
Ensembl chr15:17,808,461...17,815,676
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00537 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780
JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00537 NCBI chr21:26,595,838...26,631,476
Ensembl chr21:26,595,914...26,631,135
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00537 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939
JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00537 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935
JBrowse link
adenylosuccinate lyase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO SMPDB SMP:00167 NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160
JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00167 NCBI chr 7:30,576,445...30,660,926
Ensembl chr 7:30,577,591...30,660,926
JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00167 NCBI chr10:24,813,854...24,832,115 JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00167 NCBI chr 7:35,440,250...35,477,470
Ensembl chr 7:35,440,676...35,476,795
JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00167 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00167 NCBI chr17:52,377,411...52,399,525
Ensembl chr17:52,377,402...52,399,520
JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00167 NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00167 NCBI chr26:37,749,799...37,811,490
Ensembl chr26:37,750,649...37,794,149
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00167 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697
JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00167 NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782
JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00167 NCBI chr 8:47,193,463...47,245,865
Ensembl chr 8:47,196,439...47,229,964
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00167 NCBI chr 9:48,301,499...48,306,210
Ensembl chr 9:48,303,206...48,305,992
JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00167 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163
JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00167 NCBI chr35:15,400,937...15,449,157
Ensembl chr35:15,401,003...15,448,022
JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00167 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00167 NCBI chr 5:25,291,019...25,718,918
Ensembl chr 5:25,291,583...25,686,947
JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00167 NCBI chr15:53,266,243...53,312,109
Ensembl chr15:53,265,350...53,312,111
JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00167 NCBI chr14:820,048...826,694
Ensembl chr14:820,093...827,250
JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00167 NCBI chr  X:105,115,732...105,153,702
Ensembl chr  X:105,115,732...105,153,702
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00167 NCBI chr14:8,001,575...8,013,181
Ensembl chr14:7,996,717...8,012,467
JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00167 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163
JBrowse link
G LOC100687127 thioredoxin-like ISO SMPDB SMP:00167 NCBI chr  X:82,986,288...82,986,753 JBrowse link
G LOC487740 trifunctional purine biosynthetic protein adenosine-3 ISO SMPDB SMP:00167 NCBI chr31:29,032,399...29,063,706 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00167 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00167 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235
JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00167 NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178
JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00167 NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469
JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00167 NCBI chr13:48,296,232...48,682,650 JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00167 NCBI chr 1:53,457,781...54,049,735
Ensembl chr 1:53,462,979...53,801,966
JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00167 NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00167 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287
JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00167 NCBI chr15:17,808,454...17,815,987
Ensembl chr15:17,808,461...17,815,676
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00167 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780
JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00167 NCBI chr21:26,595,838...26,631,476
Ensembl chr21:26,595,914...26,631,135
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00167 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939
JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00167 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935
JBrowse link
adrenoleukodystrophy pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO SMPDB SMP:00516 NCBI chr  X:121,545,690...121,564,117
Ensembl chr  X:121,545,586...121,563,186
JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00516 NCBI chr27:14,015,093...14,084,362
Ensembl chr27:14,015,091...14,163,312
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00516 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00516 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809
JBrowse link
G CRAT carnitine O-acetyltransferase ISO SMPDB SMP:00516 NCBI chr 9:54,566,708...54,580,301
Ensembl chr 9:54,566,407...54,580,025
JBrowse link
G CROT carnitine O-octanoyltransferase ISO SMPDB SMP:00516 NCBI chr14:13,475,130...13,532,536
Ensembl chr14:13,475,235...13,532,536
JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00516 NCBI chr20:52,284,674...52,292,922
Ensembl chr20:52,282,762...52,292,888
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00516 NCBI chr10:61,113,213...61,130,157
Ensembl chr10:61,123,655...61,193,241
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00516 NCBI chr 2:85,224,376...85,362,684 JBrowse link
G SLC25A20 solute carrier family 25 member 20 ISO SMPDB SMP:00516 NCBI chr20:40,244,222...40,271,100
Ensembl chr20:40,244,229...40,270,433
JBrowse link
AGAT deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540
JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00362, SMP:00507 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904
JBrowse link
G CKB creatine kinase B ISO SMPDB SMP:00362, SMP:00507 NCBI chr 8:71,284,104...71,287,379 JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00362, SMP:00507 NCBI chr26:18,032,663...18,057,277
Ensembl chr26:18,033,392...18,057,238
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579
JBrowse link
G LOC477562 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00362, SMP:00507 NCBI chr26:29,039,007...29,059,722 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332
JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chr28:33,763,661...33,788,817
Ensembl chr28:33,758,473...33,788,759
JBrowse link
G OTC ornithine carbamoyltransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595
JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00362, SMP:00507 NCBI chr21:23,991,474...24,033,086
Ensembl chr21:23,991,469...24,032,642
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00362, SMP:00507 NCBI chr 7:38,902,705...38,905,924 JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00362, SMP:00507 NCBI chr12:46,993,787...47,047,295
Ensembl chr12:46,992,959...47,047,240
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00362, SMP:00507 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054
JBrowse link
AICA-ribosuria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO SMPDB SMP:00168 NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160
JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00168 NCBI chr 7:30,576,445...30,660,926
Ensembl chr 7:30,577,591...30,660,926
JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00168 NCBI chr10:24,813,854...24,832,115 JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00168 NCBI chr 7:35,440,250...35,477,470
Ensembl chr 7:35,440,676...35,476,795
JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00168 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00168 NCBI chr17:52,377,411...52,399,525
Ensembl chr17:52,377,402...52,399,520
JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00168 NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00168 NCBI chr26:37,749,799...37,811,490
Ensembl chr26:37,750,649...37,794,149
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00168 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697
JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00168 NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00168 NCBI chr 9:48,301,499...48,306,210
Ensembl chr 9:48,303,206...48,305,992
JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00168 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163
JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00168 NCBI chr35:15,400,937...15,449,157
Ensembl chr35:15,401,003...15,448,022
JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00168 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00168 NCBI chr 5:25,291,019...25,718,918
Ensembl chr 5:25,291,583...25,686,947
JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00168 NCBI chr15:53,266,243...53,312,109
Ensembl chr15:53,265,350...53,312,111
JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00168 NCBI chr14:820,048...826,694
Ensembl chr14:820,093...827,250
JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00168 NCBI chr  X:105,115,732...105,153,702
Ensembl chr  X:105,115,732...105,153,702
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00168 NCBI chr14:8,001,575...8,013,181
Ensembl chr14:7,996,717...8,012,467
JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00168 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163
JBrowse link
G LOC100687127 thioredoxin-like ISO SMPDB SMP:00168 NCBI chr  X:82,986,288...82,986,753 JBrowse link
G LOC487740 trifunctional purine biosynthetic protein adenosine-3 ISO SMPDB SMP:00168 NCBI chr31:29,032,399...29,063,706 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00168 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00168 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235
JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00168 NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178
JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00168 NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469
JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00168 NCBI chr13:48,296,232...48,682,650 JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00168 NCBI chr 1:53,457,781...54,049,735
Ensembl chr 1:53,462,979...53,801,966
JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00168 NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00168 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287
JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00168 NCBI chr15:17,808,454...17,815,987
Ensembl chr15:17,808,461...17,815,676
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00168 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780
JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00168 NCBI chr21:26,595,838...26,631,476
Ensembl chr21:26,595,914...26,631,135
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00168 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939
JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00168 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935
JBrowse link
Alagille syndrome pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAG1 jagged canonical Notch ligand 1 ISO RGD PMID:15057910 RGD:1334443 NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199
JBrowse link
alkaptonuria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00169 NCBI chr 5:40,466,237...40,474,272
Ensembl chr 5:40,466,237...40,474,457
JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00169 NCBI chr16:14,955,528...14,963,283
Ensembl chr16:14,958,658...15,036,651
JBrowse link
G COMT catechol-O-methyltransferase ISO SMPDB SMP:00169 NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008
JBrowse link
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00169 NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130
JBrowse link
G DCT dopachrome tautomerase ISO SMPDB SMP:00169 NCBI chr22:45,271,709...45,305,272
Ensembl chr22:45,271,709...45,305,346
JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00169 NCBI chr18:1,802,239...1,876,714
Ensembl chr18:1,803,273...1,867,616
JBrowse link
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00169 NCBI chr 3:57,300,422...57,326,546
Ensembl chr 3:57,300,441...57,326,486
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00169 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579
JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00169 NCBI chr 8:50,133,496...50,143,487
Ensembl chr 8:50,133,714...50,143,439
JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00169 NCBI chr10:45,368,157...45,379,521
Ensembl chr10:45,368,178...45,379,160
JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00169 NCBI chr33:24,066,099...24,107,827
Ensembl chr33:24,066,306...24,151,354
JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00169 NCBI chr26:7,430,891...7,440,643
Ensembl chr26:7,430,933...7,440,611
JBrowse link
G LOC100856533 alcohol dehydrogenase E chain ISO SMPDB SMP:00169 NCBI chr32:21,422,428...21,437,058 JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00169 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757
JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00169 NCBI chr 9:22,808,505...22,810,587
Ensembl chr 9:22,808,601...22,810,551
JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00169 NCBI chr 5:77,365,589...77,378,474
Ensembl chr 5:77,366,138...77,378,419
JBrowse link
G TYR tyrosinase ISO SMPDB SMP:00169 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191
JBrowse link
Alzheimer's disease pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC477699 alpha-2-macroglobulin ISO RGD PMID:9697696 RGD:1302534 NCBI chr27:36,654,328...36,695,775 JBrowse link
G PSEN2 presenilin 2 ISO DNA:missense mutation:cds:p.N141I (human) RGD PMID:10976645 RGD:9743900 NCBI chr 7:38,147,157...38,163,023
Ensembl chr 7:38,147,173...38,166,722
JBrowse link
G UBE2D3 ubiquitin conjugating enzyme E2 D3 ISO RGD PMID:11020223 RGD:1302873 NCBI chr32:24,190,897...24,221,627 JBrowse link
G UBE2G1 ubiquitin conjugating enzyme E2 G1 ISO RGD PMID:11020223 RGD:1302873 NCBI chr 5:30,332,277...30,430,225
Ensembl chr 5:30,334,968...30,427,529
JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I ISO RGD PMID:11020223 RGD:1302873 NCBI chr 6:39,440,123...39,453,688
Ensembl chr 6:39,440,314...39,817,588
JBrowse link
G UBE2N ubiquitin-conjugating enzyme E2N ISO RGD PMID:11020223 RGD:1302873 NCBI chr10:41,470,073...41,470,738
Ensembl chr10:41,470,073...41,470,738
JBrowse link
amyotrophic lateral sclerosis pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC1A2 solute carrier family 1 member 2 ISO RGD PMID:9539131 RGD:1302517 NCBI chr18:32,565,258...32,717,052
Ensembl chr18:32,565,258...32,709,225
JBrowse link
G SOD1 superoxide dismutase 1 ISO RGD PMID:8446170, PMID:16583367 RGD:1581209, RGD:737689 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
apparent mineralocorticoid excess syndrome pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO SMPDB SMP:00717 NCBI chr30:37,474,997...37,487,028
Ensembl chr30:37,473,901...37,487,507
JBrowse link
G CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 ISO SMPDB SMP:00717 NCBI chr13:36,866,476...36,880,625 JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO SMPDB SMP:00717 NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852
JBrowse link
G CYP21A2 cytochrome P450c21 ISO SMPDB SMP:00717 NCBI chr12:1,450,677...1,453,700
Ensembl chr12:1,450,677...1,453,734
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00717 NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00717 NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991
JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00717 NCBI chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062
JBrowse link
G LOC491379 3-oxo-5-beta-steroid 4-dehydrogenase-like ISO SMPDB SMP:00717 NCBI chr16:13,877,657...14,047,474 JBrowse link
argininosuccinic aciduria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00003 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00003 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00003 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156
JBrowse link
G OTC ornithine carbamoyltransferase ISO SMPDB SMP:00003 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chr10:64,482,840...64,508,288
Ensembl chr10:64,483,060...64,505,747
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chr36:16,185,011...16,391,080
Ensembl chr36:16,185,649...16,483,016
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054
JBrowse link
aromatic L-amino acid decarboxylase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00170 NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130
JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00170 NCBI chr18:1,802,239...1,876,714
Ensembl chr18:1,803,273...1,867,616
JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00170 NCBI chr 9:22,808,505...22,810,587
Ensembl chr 9:22,808,601...22,810,551
JBrowse link
G TH tyrosine hydroxylase ISO SMPDB SMP:00170 NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602
JBrowse link
atherosclerosis pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOX15 arachidonate 15-lipoxygenase ISO RGD PMID:18206890 RGD:5509610 NCBI chr 5:31,883,544...31,891,357
Ensembl chr 5:31,882,501...32,038,119
JBrowse link
G LDLR low density lipoprotein receptor ISO RGD PMID:12969990 RGD:1581826 NCBI chr20:50,115,175...50,152,443
Ensembl chr20:50,048,736...50,152,355
JBrowse link
G LMNA lamin A/C ISO RGD PMID:15205220 RGD:1580530 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:15662225 RGD:1582524 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
beta-ureidopropionase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00172 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635
JBrowse link
G CANT1 calcium activated nucleotidase 1 ISO SMPDB SMP:00172 NCBI chr 9:2,428,107...2,460,097 JBrowse link
G CDA cytidine deaminase ISO SMPDB SMP:00172 NCBI chr 2:78,305,328...78,327,229
Ensembl chr 2:78,304,726...78,327,247
JBrowse link
G CMPK2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00172 NCBI chr17:4,466,615...4,478,546 JBrowse link
G CTPS1 CTP synthase 1 ISO SMPDB SMP:00172 NCBI chr15:2,067,767...2,093,014
Ensembl chr15:2,067,763...2,093,014
JBrowse link
G DCTD dCMP deaminase ISO SMPDB SMP:00172 NCBI chr16:47,350,493...47,376,184
Ensembl chr16:47,350,357...47,375,127
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00172 NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00172 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923
JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00172 NCBI chr13:5,583,795...5,659,355
Ensembl chr13:5,583,801...5,659,463
JBrowse link
G DUT deoxyuridine triphosphatase ISO SMPDB SMP:00172 NCBI chr30:14,572,766...14,585,621
Ensembl chr30:14,572,602...14,585,530
JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00172 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163
JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00172 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163
JBrowse link
G LOC480491 GTP:AMP phosphotransferase AK3, mitochondrial ISO SMPDB SMP:00172 NCBI chr 9:10,282,452...10,283,479 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00172 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00172 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00172 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00172 NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934
JBrowse link
G TK1 thymidine kinase 1 ISO SMPDB SMP:00172 NCBI chr 9:2,959,450...2,970,908
Ensembl chr 9:2,959,488...2,971,064
JBrowse link
G TYMS thymidylate synthetase ISO SMPDB SMP:00172 NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747
JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 ISO SMPDB SMP:00172 NCBI chr24:47,412,520...47,423,222
Ensembl chr24:47,412,521...47,432,860
JBrowse link
G UMPS uridine monophosphate synthetase ISO SMPDB SMP:00172 NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514
JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00172 NCBI chr26:28,194,968...28,225,977
Ensembl chr26:28,195,081...28,225,567
JBrowse link
biotinidase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTD biotinidase ISO SMPDB SMP:00174 NCBI chr23:27,037,640...27,069,544
Ensembl chr23:27,037,921...27,069,456
JBrowse link
G HLCS holocarboxylase synthetase ISO SMPDB SMP:00174 NCBI chr31:31,934,796...32,159,866
Ensembl chr31:31,937,087...32,150,861
JBrowse link
G SPCS1 signal peptidase complex subunit 1 ISO SMPDB SMP:00174 NCBI chr20:37,091,420...37,092,972
Ensembl chr20:37,091,792...37,263,577
JBrowse link
bipolar disorder pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SSTR5 somatostatin receptor 5 ISO RGD PMID:12192619 RGD:1358589 NCBI chr 6:39,608,813...39,610,138 JBrowse link
CADASIL pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH3 notch receptor 3 ISO Mutations are predominantly found in the EGF repeats and clustered within the first five RGD PMID:9388399 RGD:1334441 NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
JBrowse link
Canavan disease pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00175 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00175 NCBI chr10:24,813,854...24,832,115 JBrowse link
G ADSS1 adenylosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chr 8:72,288,246...72,305,479
Ensembl chr 8:72,288,323...72,305,479
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00175 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424
JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) ISO SMPDB SMP:00175 NCBI chr14:22,718,020...22,734,109
Ensembl chr14:22,718,042...22,734,054
JBrowse link
G ASPA aspartoacylase ISO SMPDB SMP:00175 NCBI chr 9:47,338,435...47,361,974
Ensembl chr 9:47,343,120...47,360,914
JBrowse link
G ASRGL1 asparaginase and isoaspartyl peptidase 1 ISO SMPDB SMP:00175 NCBI chr18:54,215,920...54,238,094
Ensembl chr18:54,216,926...54,238,059
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00175 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635
JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr19:38,690,170...38,751,360
Ensembl chr19:38,668,527...38,751,310
JBrowse link
G DDO D-aspartate oxidase ISO SMPDB SMP:00175 NCBI chr12:67,080,646...67,104,429
Ensembl chr12:67,081,329...67,104,397
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00175 NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824
JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00175 NCBI chr 1:106,636,282...106,673,438
Ensembl chr 1:106,657,477...106,673,422
JBrowse link
G NARS1 asparaginyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr 1:18,320,941...18,338,185
Ensembl chr 1:18,321,021...18,337,430
JBrowse link
carbamoyl phosphate synthetase I deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00002 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00002 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156
JBrowse link
G OTC ornithine carbamoyltransferase ISO SMPDB SMP:00002 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr10:64,482,840...64,508,288
Ensembl chr10:64,483,060...64,505,747
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr36:16,185,011...16,391,080
Ensembl chr36:16,185,649...16,483,016
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054
JBrowse link
cardiomyopathy pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:15722372 RGD:1582275 NCBI chr 9:15,840,714...15,962,400
Ensembl chr 9:15,840,983...15,952,026
JBrowse link
cardiovascular system disease pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD14 CD14 molecule ISO RGD PMID:15310678 RGD:1580257 NCBI chr 2:35,790,505...35,792,967 JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:15996002 RGD:1580474 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G SOD3 superoxide dismutase 3 ISO RGD PMID:16014615 RGD:1579965 NCBI chr 3:85,382,698...85,387,144
Ensembl chr 3:85,382,484...85,387,455
JBrowse link
carnitine palmitoyltransferase I deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00538 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00538 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00538 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00538 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00538 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00538 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00538 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chr17:20,355,778...20,399,869 JBrowse link
carnitine-acylcarnitine translocase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO SMPDB SMP:00517 NCBI chr  X:121,545,690...121,564,117
Ensembl chr  X:121,545,586...121,563,186
JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chr27:14,015,093...14,084,362
Ensembl chr27:14,015,091...14,163,312
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00517 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809
JBrowse link
G CRAT carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chr 9:54,566,708...54,580,301
Ensembl chr 9:54,566,407...54,580,025
JBrowse link
G CROT carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chr14:13,475,130...13,532,536
Ensembl chr14:13,475,235...13,532,536
JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chr20:52,284,674...52,292,922
Ensembl chr20:52,282,762...52,292,888
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chr10:61,113,213...61,130,157
Ensembl chr10:61,123,655...61,193,241
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chr 2:85,224,376...85,362,684 JBrowse link
G SLC25A20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chr20:40,244,222...40,271,100
Ensembl chr20:40,244,229...40,270,433
JBrowse link
carnosinemia pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00493 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00493 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G AOC3 amine oxidase copper containing 3 ISO SMPDB SMP:00493 NCBI chr 9:20,158,581...20,179,773
Ensembl chr 9:20,157,410...20,241,376
JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chr 1:4,875,790...4,912,148
Ensembl chr 1:4,876,794...4,911,976
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923
JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chr13:5,583,795...5,659,355
Ensembl chr13:5,583,801...5,659,463
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824
JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chr26:28,194,968...28,225,977
Ensembl chr26:28,195,081...28,225,567
JBrowse link
cerebrotendinous xanthomatosis pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX2 acyl-CoA oxidase 2 ISO SMPDB SMP:00315 NCBI chr20:32,110,788...32,141,751
Ensembl chr20:32,113,217...32,141,734
JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chr 4:73,815,438...73,836,016
Ensembl chr 4:73,815,291...73,867,437
JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00315 NCBI chr11:58,102,057...58,116,750
Ensembl chr11:58,102,592...58,109,389
JBrowse link
G CH25H cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chr26:38,884,356...38,885,728 JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509
JBrowse link
G CYP39A1 cytochrome P450 family 39 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr12:14,728,289...14,818,264
Ensembl chr12:14,729,063...14,867,888
JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr 8:68,064,898...68,095,537
Ensembl chr 8:68,041,344...68,095,212
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr29:9,285,315...9,295,895
Ensembl chr29:9,286,181...9,332,310
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr29:14,443,036...14,613,839
Ensembl chr29:14,444,853...14,613,755
JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr23:11,965,685...11,968,994
Ensembl chr23:11,967,341...11,968,846
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chr11:8,717,182...8,810,716
Ensembl chr11:8,717,349...8,824,594
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chr 6:17,220,006...17,223,985
Ensembl chr 6:17,219,574...17,223,114
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00315 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436
JBrowse link
G LOC491379 3-oxo-5-beta-steroid 4-dehydrogenase-like ISO SMPDB SMP:00315 NCBI chr16:13,877,657...14,047,474 JBrowse link
G LOC608675 bile acyl-CoA synthetase ISO SMPDB SMP:00315
G SCP2 sterol carrier protein 2 ISO SMPDB SMP:00315 NCBI chr 5:55,860,053...55,971,657
Ensembl chr 5:55,860,549...55,964,014
JBrowse link
cholesterol ester storage disease pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00508 NCBI chr 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00508 NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00508 NCBI chr  X:41,774,857...41,779,474
Ensembl chr  X:41,762,692...41,779,476
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00508 NCBI chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582
JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00508 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00508 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00508 NCBI chr 4:66,633,706...66,654,005
Ensembl chr 4:66,633,572...66,652,196
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chr38:19,975,935...19,999,077
Ensembl chr38:19,977,086...19,999,010
JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00508 NCBI chr 2:33,927,759...33,930,651 JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00508 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00508 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042
JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00508 NCBI chr15:61,293,769...61,307,285
Ensembl chr  X:8,144,335...8,145,216
Ensembl chr15:8,144,335...8,145,216
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00508 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00508 NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00508 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00508 NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390
JBrowse link
citrullinemia pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00001 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00001 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00001 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156
JBrowse link
G OTC ornithine carbamoyltransferase ISO SMPDB SMP:00001 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chr10:64,482,840...64,508,288
Ensembl chr10:64,483,060...64,505,747
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chr36:16,185,011...16,391,080
Ensembl chr36:16,185,649...16,483,016
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054
JBrowse link
colorectal cancer pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO RGD PMID:18432252 RGD:2293188 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G AXIN1 axin 1 ISO RGD PMID:18432252 RGD:2293188 NCBI chr 6:40,155,797...40,218,330
Ensembl chr 6:40,158,244...40,218,343
JBrowse link
G AXIN2 axin 2 ISO RGD PMID:18432252 RGD:2293188 NCBI chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530
JBrowse link
G B9D2 B9 domain containing 2 ISO RGD PMID:17613544 RGD:2306282 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO RGD PMID:18098337 RGD:2298531 NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
JBrowse link
G CTNNB1 catenin beta 1 ISO RGD PMID:18432252 RGD:2293188 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:16112461 RGD:2306732 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G MLH1 mutL homolog 1 ISO RGD PMID:11900875 RGD:2306714 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
JBrowse link
G MSH2 mutS homolog 2 ISO RGD PMID:11900875 RGD:2306714 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
G MSH6 mutS homolog 6 ISO RGD PMID:11900875 RGD:2306714 NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO RGD PMID:11900875 RGD:2306714 NCBI chr37:502,752...609,640
Ensembl chr37:502,747...790,904
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO RGD PMID:11900875 RGD:2306714 NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940
JBrowse link
G SMAD2 SMAD family member 2 ISO RGD PMID:17613544, PMID:18662538 RGD:2306282, RGD:2308865 NCBI chr 7:43,696,883...43,778,063
Ensembl chr 7:43,700,445...43,769,983
JBrowse link
G SMAD3 SMAD family member 3 ISO RGD PMID:17613544 RGD:2306282 NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337
JBrowse link
G SMAD4 SMAD family member 4 ISO RGD PMID:17613544, PMID:18662538 RGD:2306282, RGD:2308865 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
JBrowse link
G SMAD7 SMAD family member 7 ISO RGD PMID:18662538 RGD:2308865 NCBI chr 7:79,706,485...79,734,673
Ensembl chr 7:79,706,705...79,734,749
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO RGD PMID:17613544 RGD:2306282 NCBI chr11:56,191,383...56,223,042
Ensembl chr11:56,161,772...56,218,594
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO RGD PMID:17613544, PMID:18662538 RGD:2306282, RGD:2308865 NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636
JBrowse link
congenital bile acid synthesis defect pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX2 acyl-CoA oxidase 2 ISO SMPDB SMP:00314, SMP:00318 NCBI chr20:32,110,788...32,141,751
Ensembl chr20:32,113,217...32,141,734
JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO SMPDB SMP:00314, SMP:00318 NCBI chr 4:73,815,438...73,836,016
Ensembl chr 4:73,815,291...73,867,437
JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00314, SMP:00318 NCBI chr11:58,102,057...58,116,750
Ensembl chr11:58,102,592...58,109,389
JBrowse link
G CH25H cholesterol 25-hydroxylase ISO SMPDB SMP:00314, SMP:00318 NCBI chr26:38,884,356...38,885,728 JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509
JBrowse link
G CYP39A1 cytochrome P450 family 39 subfamily A member 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr12:14,728,289...14,818,264
Ensembl chr12:14,729,063...14,867,888
JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 8:68,064,898...68,095,537
Ensembl chr 8:68,041,344...68,095,212
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr29:9,285,315...9,295,895
Ensembl chr29:9,286,181...9,332,310
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr29:14,443,036...14,613,839
Ensembl chr29:14,444,853...14,613,755
JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr23:11,965,685...11,968,994
Ensembl chr23:11,967,341...11,968,846
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00314, SMP:00318 NCBI chr11:8,717,182...8,810,716
Ensembl chr11:8,717,349...8,824,594
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 6:17,220,006...17,223,985
Ensembl chr 6:17,219,574...17,223,114
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00314, SMP:00318 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436
JBrowse link
G LOC491379 3-oxo-5-beta-steroid 4-dehydrogenase-like ISO SMPDB SMP:00314, SMP:00318 NCBI chr16:13,877,657...14,047,474 JBrowse link
G LOC608675 bile acyl-CoA synthetase ISO SMPDB SMP:00314, SMP:00318
G SCP2 sterol carrier protein 2 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 5:55,860,053...55,971,657
Ensembl chr 5:55,860,549...55,964,014
JBrowse link
congenital hemidysplasia with ichthyosiform erythroderma and limb defects pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00387 NCBI chr 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00387 NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00387 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00387 NCBI chr  X:41,774,857...41,779,474
Ensembl chr  X:41,762,692...41,779,476
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00387 NCBI chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582
JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00387 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00387 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00387 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00387 NCBI chr 4:66,633,706...66,654,005
Ensembl chr 4:66,633,572...66,652,196
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00387 NCBI chr38:19,975,935...19,999,077
Ensembl chr38:19,977,086...19,999,010
JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00387 NCBI chr 2:33,927,759...33,930,651 JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00387 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00387 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042
JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00387 NCBI chr15:61,293,769...61,307,285
Ensembl chr  X:8,144,335...8,145,216
Ensembl chr15:8,144,335...8,145,216
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00387 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00387 NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00387 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00387 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00387 NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00387 NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00387 NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00387 NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390
JBrowse link
congenital sucrase-isomaltase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO SMPDB SMP:00557 NCBI chr 6:50,039,661...50,112,543
Ensembl chr 6:50,041,947...50,112,279
JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00557 NCBI chr31:5,742,744...6,010,881
Ensembl chr31:5,742,744...6,093,612
JBrowse link
G GCK glucokinase ISO SMPDB SMP:00557
G GPI glucose-6-phosphate isomerase ISO SMPDB SMP:00557 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316
JBrowse link
G GUSB glucuronidase beta ISO SMPDB SMP:00557 NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424
JBrowse link
G GYS2 glycogen synthase 2 ISO SMPDB SMP:00557 NCBI chr27:25,509,833...25,558,874
Ensembl chr27:25,509,655...25,558,844
JBrowse link
G HK2 hexokinase 2 ISO SMPDB SMP:00557 NCBI chr17:48,287,367...48,329,470
Ensembl chr17:48,289,272...48,348,663
JBrowse link
G MGAM maltase-glucoamylase ISO SMPDB SMP:00557 NCBI chr16:7,124,343...7,218,035
Ensembl chr16:7,125,114...7,260,241
JBrowse link
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00557 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622
JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 ISO SMPDB SMP:00557 NCBI chr21:23,918,588...23,973,607
Ensembl chr21:23,918,918...23,968,306
JBrowse link
G PYGL glycogen phosphorylase L ISO SMPDB SMP:00557 NCBI chr 8:27,264,778...27,307,977
Ensembl chr 8:27,223,273...27,307,977
JBrowse link
G SI sucrase-isomaltase ISO SMPDB SMP:00557 NCBI chr34:30,284,869...30,373,749
Ensembl chr34:30,284,858...30,373,780
JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00557 NCBI chr 3:72,935,532...72,964,151
Ensembl chr 3:72,839,920...72,963,208
JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00557 NCBI chr10:63,532,366...63,598,362
Ensembl chr10:63,533,171...63,597,452
JBrowse link
cystathioninuria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase ISO SMPDB SMP:00514 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00514 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451
JBrowse link
cystinuria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 (Colton blood group) ISO SMPDB SMP:00723 NCBI chr14:43,592,266...43,603,903
Ensembl chr14:43,578,721...43,605,720
JBrowse link
G AQP2 aquaporin 2 ISO SMPDB SMP:00723 NCBI chr27:4,743,127...4,750,907
Ensembl chr27:4,743,127...4,750,907
JBrowse link
G AQP3 aquaporin 3 ISO SMPDB SMP:00723 NCBI chr11:50,517,509...50,524,565 JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00723 NCBI chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00723 NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
JBrowse link
G ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 ISO SMPDB SMP:00723 NCBI chr38:22,023,176...22,080,656
Ensembl chr38:22,023,221...22,080,604
JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00723 NCBI chr 7:29,464,132...29,487,124
Ensembl chr 7:29,464,132...29,487,947
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00723 NCBI chr 5:32,548,591...32,553,911
Ensembl chr 5:32,549,167...32,553,504
JBrowse link
G ATP1B3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00723 NCBI chr23:37,684,507...37,727,535
Ensembl chr23:37,684,506...37,726,746
JBrowse link
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00723 NCBI chr  X:92,347,443...92,368,206
Ensembl chr  X:92,347,684...92,365,341
JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO SMPDB SMP:00723 NCBI chr 5:15,812,335...15,824,552
Ensembl chr 5:15,815,969...15,823,057
JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO SMPDB SMP:00723 NCBI chr15:46,390,030...46,718,000
Ensembl chr15:46,390,023...46,710,131
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00723 NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980
JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00723 NCBI chr 6:22,439,643...22,481,349
Ensembl chr 6:22,439,643...22,481,349
JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO SMPDB SMP:00723 NCBI chr 5:56,455,677...56,466,035
Ensembl chr 5:56,461,939...56,465,595
JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00723 NCBI chr 6:22,566,568...22,593,479
Ensembl chr 6:22,567,711...22,593,503
JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO SMPDB SMP:00723 NCBI chr30:14,458,373...14,548,870
Ensembl chr30:14,459,606...14,547,694
JBrowse link
G SLC12A3 solute carrier family 12 member 3 ISO SMPDB SMP:00723 NCBI chr 2:59,413,737...59,449,129
Ensembl chr 2:59,413,828...59,449,081
JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO SMPDB SMP:00723 NCBI chr30:773,021...860,936
Ensembl chr30:773,933...858,487
JBrowse link
G SLC14A2 solute carrier family 14 member 2 ISO SMPDB SMP:00723 NCBI chr 7:45,435,387...45,868,977
Ensembl chr 7:45,431,450...45,490,430
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO SMPDB SMP:00723 NCBI chr 1:92,898,274...92,978,260
Ensembl chr 1:92,898,274...92,978,260
JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO SMPDB SMP:00723 NCBI chr 1:49,327,621...49,348,435
Ensembl chr 1:49,327,296...49,348,435
JBrowse link
G SLC22A6 solute carrier family 22 member 6 ISO SMPDB SMP:00723 NCBI chr18:53,736,669...53,745,001
Ensembl chr18:53,736,959...53,744,396
JBrowse link
G SLC38A4 solute carrier family 38 member 4 ISO SMPDB SMP:00723 NCBI chr27:7,685,955...7,756,222
Ensembl chr27:7,685,660...7,770,363
JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO SMPDB SMP:00723 NCBI chr10:46,690,555...46,737,417
Ensembl chr10:46,685,137...46,737,147
JBrowse link
G SLC3A2 solute carrier family 3 member 2 ISO SMPDB SMP:00723 NCBI chr18:53,810,468...53,819,021
Ensembl chr18:53,810,398...53,819,021
JBrowse link
G SLC6A20 solute carrier family 6 member 20 ISO SMPDB SMP:00723 NCBI chr20:42,702,368...42,725,804
Ensembl chr20:42,702,379...42,724,658
JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO SMPDB SMP:00723 NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858
JBrowse link
G SLC7A6 solute carrier family 7 member 6 ISO SMPDB SMP:00723 NCBI chr 5:81,229,251...81,267,325
Ensembl chr 5:81,231,680...81,252,295
JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO SMPDB SMP:00723 NCBI chr 8:3,132,735...3,209,259
Ensembl chr 8:3,133,139...3,165,832
JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO SMPDB SMP:00723 NCBI chr 8:3,430,208...3,479,985
Ensembl chr 8:3,430,208...3,479,985
JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO SMPDB SMP:00723 NCBI chr 1:119,205,833...119,229,054
Ensembl chr 1:119,205,833...119,229,054
JBrowse link
D-glycericacidemia pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO SMPDB SMP:00529 NCBI chr12:1,561,494...1,570,754
Ensembl chr12:1,558,684...1,568,962
JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00529 NCBI chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940
JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00529 NCBI chr 5:40,466,237...40,474,272
Ensembl chr 5:40,466,237...40,474,457
JBrowse link
G DGKA diacylglycerol kinase alpha ISO SMPDB SMP:00529 NCBI chr10:269,819...292,533
Ensembl chr10:270,998...292,352
JBrowse link
G GK glycerol kinase ISO SMPDB SMP:00529 NCBI chr  X:25,748,060...25,834,462 JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00529 NCBI chr20:37,462,651...37,495,581
Ensembl chr20:37,462,659...37,465,807
JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00529 NCBI chr28:23,261,673...23,323,985
Ensembl chr28:23,258,428...23,298,017
JBrowse link
G GPD1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00529 NCBI chr27:4,614,878...4,622,013
Ensembl chr27:4,614,864...4,621,922
JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00529 NCBI chr36:2,678,749...2,780,173
Ensembl chr36:2,681,188...2,777,535
JBrowse link
G LIPC lipase C, hepatic type ISO SMPDB SMP:00529 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
JBrowse link
G LPL lipoprotein lipase ISO SMPDB SMP:00529 NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00529 NCBI chr 2:42,761,712...42,854,515
Ensembl chr 2:42,763,026...42,854,802
JBrowse link
G PLPP2 phospholipid phosphatase 2 ISO SMPDB SMP:00529 NCBI chr20:58,083,902...58,095,621
Ensembl chr20:58,087,289...58,095,421
JBrowse link
desmosterolosis pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00386 NCBI chr 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00386 NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00386 NCBI chr  X:41,774,857...41,779,474
Ensembl chr  X:41,762,692...41,779,476
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00386 NCBI chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582
JBrowse link