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PATHWAY ONTOLOGY - ANNOTATIONS

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

Term:disease pathway
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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


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11-beta-hydroxylase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1C4 aldo-keto reductase family 1 member C4 ISO SMPDB SMP:00575 NCBI chr10:5,247,368...5,271,554
Ensembl chr10:5,234,188...5,258,201
JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00575 NCBI chr 7:130,023,017...130,076,397
Ensembl chr 7:142,525,467...142,571,331
JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO SMPDB SMP:00575 NCBI chr15:53,280,110...53,310,868
Ensembl chr15:72,901,286...72,931,164
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO SMPDB SMP:00575 NCBI chr 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO SMPDB SMP:00575 NCBI chr10:99,431,762...99,439,619 JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00575 NCBI chr 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00575 NCBI chr16:47,776,118...47,782,861
Ensembl chr16:67,165,215...67,171,417
JBrowse link
G LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 ISO SMPDB SMP:00575 NCBI chr 1:83,130,065...83,156,996
Ensembl chr 1:118,128,493...118,153,124
JBrowse link
17-alpha-hydroxylase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1C4 aldo-keto reductase family 1 member C4 ISO SMPDB SMP:00372 NCBI chr10:5,247,368...5,271,554
Ensembl chr10:5,234,188...5,258,201
JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00372 NCBI chr 7:130,023,017...130,076,397
Ensembl chr 7:142,525,467...142,571,331
JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO SMPDB SMP:00372 NCBI chr15:53,280,110...53,310,868
Ensembl chr15:72,901,286...72,931,164
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO SMPDB SMP:00372 NCBI chr 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO SMPDB SMP:00372 NCBI chr10:99,431,762...99,439,619 JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00372 NCBI chr 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00372 NCBI chr16:47,776,118...47,782,861
Ensembl chr16:67,165,215...67,171,417
JBrowse link
G LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 ISO SMPDB SMP:00372 NCBI chr 1:83,130,065...83,156,996
Ensembl chr 1:118,128,493...118,153,124
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 chr 4:162,283,569...162,313,720
Ensembl chr 4:174,353,766...174,383,471
JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00719 NCBI chr 7:114,084,792...114,155,558
Ensembl chr 7:126,769,655...126,840,346
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00719 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00719 NCBI chr 5:121,946,527...122,000,273 JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00719 NCBI chr10:12,073,324...12,130,589
Ensembl chr10:12,054,060...12,108,387
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00719 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00719 NCBI chr14:55,433,358...55,455,876
Ensembl chr14:74,278,128...74,300,133
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00719 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr 4:100,495,205...100,540,589 JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00719 NCBI chr17:27,717,083...27,820,776
Ensembl chr17:28,225,831...28,240,210
JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00719 NCBI chr 5:136,664,485...136,666,344 JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00719 NCBI chr 8:16,723,227...16,788,745
Ensembl chr 8:13,671,571...13,735,645
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 chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00136 NCBI chr 1:17,829,723...17,861,008
Ensembl chr 1:18,878,421...18,909,615
JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00136 NCBI chr 6:24,332,093...24,370,764
Ensembl chr 6:24,665,026...24,705,151
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00136 NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00136 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00136 NCBI chr16:14,552,664...14,588,022
Ensembl chr16:23,774,123...23,809,873
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00136 NCBI chr2B:58,100,623...58,145,045
Ensembl chr2B:175,558,538...175,602,944
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00136 NCBI chr 6:53,052,145...53,102,794
Ensembl chr 6:54,687,315...54,734,994
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00136 NCBI chr 1:96,548,850...96,573,273
Ensembl chr 1:95,278,665...95,297,893
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00136 NCBI chr2A:69,363,229...69,430,182
Ensembl chr2A:70,488,763...70,551,141
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00136 NCBI chr12:32,426,264...32,443,690
Ensembl chr12:32,678,814...32,696,694
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00136 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GLUL glutamate-ammonia ligase ISO SMPDB SMP:00136 NCBI chr 1:157,882,258...157,891,562
Ensembl chr 1:161,534,106...161,543,411
JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00136 NCBI chr 3:152,925,905...152,999,180
Ensembl chr 3:160,977,222...161,045,214
JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00136 NCBI chr14:33,371,603...33,388,098
Ensembl chr14:51,655,182...51,671,619
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00136 NCBI chr16:38,995,770...39,022,750
Ensembl chr16:58,120,781...58,147,378
JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00136 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00136 NCBI chr20:31,256,734...31,284,356
Ensembl chr20:32,381,745...32,409,297
JBrowse link
G NADSYN1 NAD synthetase 1 ISO SMPDB SMP:00136 NCBI chr11:66,464,320...66,537,649
Ensembl chr11:69,735,871...69,788,953
JBrowse link
G NAGK N-acetylglucosamine kinase ISO SMPDB SMP:00136 NCBI chr2A:71,114,832...71,125,182
Ensembl chr2A:72,616,077...72,626,435
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00136 NCBI chr 4:67,491,407...67,533,822
Ensembl chr 4:74,059,966...74,102,002
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00136 NCBI chr 3:49,020,310...49,029,443
Ensembl chr 3:50,100,216...50,125,112
JBrowse link
21-alpha-hydroxylase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1C4 aldo-keto reductase family 1 member C4 ISO SMPDB SMP:00373 NCBI chr10:5,247,368...5,271,554
Ensembl chr10:5,234,188...5,258,201
JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00373 NCBI chr 7:130,023,017...130,076,397
Ensembl chr 7:142,525,467...142,571,331
JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO SMPDB SMP:00373 NCBI chr15:53,280,110...53,310,868
Ensembl chr15:72,901,286...72,931,164
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO SMPDB SMP:00373 NCBI chr 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO SMPDB SMP:00373 NCBI chr10:99,431,762...99,439,619 JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00373 NCBI chr 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00373 NCBI chr16:47,776,118...47,782,861
Ensembl chr16:67,165,215...67,171,417
JBrowse link
G LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 ISO SMPDB SMP:00373 NCBI chr 1:83,130,065...83,156,996
Ensembl chr 1:118,128,493...118,153,124
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 chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00138 NCBI chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00138 NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00138 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00138 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00138 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00138 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00138 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00138 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00138 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00138 NCBI chr 9:62,269,809...62,420,577 JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00138 NCBI chr12:61,364,154...61,500,827
Ensembl chr12:63,978,116...64,107,463
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00138 NCBI chr19:38,391,618...38,418,826 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00138 NCBI chr 6:78,005,287...78,246,287
Ensembl chr 6:81,276,836...81,516,787
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00138 NCBI chr 1:102,852,585...102,907,146
Ensembl chr 1:101,567,551...101,621,850
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00138 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00138 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00138 NCBI chr 7:28,166,127...28,299,845
Ensembl chr 7:27,763,021...27,896,598
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00138 NCBI chr2B:77,510,938...77,652,911 JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00138 NCBI chr 1:22,993,489...23,017,307
Ensembl chr 1:23,977,723...24,001,150
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00138 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00138 NCBI chr  X:45,645,849...45,649,039
Ensembl chr  X:53,754,164...53,757,643
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00138 NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
JBrowse link
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00138 NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00138 NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00138 NCBI chr2A:71,154,176...71,176,679 JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00138 NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00138 NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00138 NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00138 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270
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 chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00568 NCBI chr2B:97,445,421...97,483,514
Ensembl chr2B:215,847,775...215,885,524
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00568 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00568 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ACSS3 acyl-CoA synthetase short chain family member 3 ISO SMPDB SMP:00568 NCBI chr12:78,586,987...78,771,478
Ensembl chr12:81,698,875...81,878,325
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00568 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00568 NCBI chr 4:100,495,205...100,540,589 JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00568 NCBI chr  X:45,645,849...45,649,039
Ensembl chr  X:53,754,164...53,757,643
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 chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00521, SMP:00522 NCBI chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00521, SMP:00522 NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00521, SMP:00522 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00521, SMP:00522 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00521, SMP:00522 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00521, SMP:00522 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 9:62,269,809...62,420,577 JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr12:61,364,154...61,500,827
Ensembl chr12:63,978,116...64,107,463
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00521, SMP:00522 NCBI chr19:38,391,618...38,418,826 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00521, SMP:00522 NCBI chr 6:78,005,287...78,246,287
Ensembl chr 6:81,276,836...81,516,787
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 1:102,852,585...102,907,146
Ensembl chr 1:101,567,551...101,621,850
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00521, SMP:00522 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 7:28,166,127...28,299,845
Ensembl chr 7:27,763,021...27,896,598
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00521, SMP:00522 NCBI chr2B:77,510,938...77,652,911 JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 1:22,993,489...23,017,307
Ensembl chr 1:23,977,723...24,001,150
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00521, SMP:00522 NCBI chr  X:45,645,849...45,649,039
Ensembl chr  X:53,754,164...53,757,643
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00521, SMP:00522 NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
JBrowse link
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00521, SMP:00522 NCBI chr2A:71,154,176...71,176,679 JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00521, SMP:00522 NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00521, SMP:00522 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270
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 chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 NCBI chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00237 NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00237 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00237 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00237 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00237 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00237 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00237 NCBI chr 9:62,269,809...62,420,577 JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 NCBI chr12:61,364,154...61,500,827
Ensembl chr12:63,978,116...64,107,463
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00237 NCBI chr19:38,391,618...38,418,826 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00237 NCBI chr 6:78,005,287...78,246,287
Ensembl chr 6:81,276,836...81,516,787
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chr 1:102,852,585...102,907,146
Ensembl chr 1:101,567,551...101,621,850
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00237 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chr 7:28,166,127...28,299,845
Ensembl chr 7:27,763,021...27,896,598
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00237 NCBI chr2B:77,510,938...77,652,911 JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00237 NCBI chr 1:22,993,489...23,017,307
Ensembl chr 1:23,977,723...24,001,150
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00237 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chr  X:45,645,849...45,649,039
Ensembl chr  X:53,754,164...53,757,643
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
JBrowse link
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00237 NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00237 NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00237 NCBI chr2A:71,154,176...71,176,679 JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00237 NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00237 NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00237 NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00237 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270
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 chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00139 NCBI chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00139 NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00139 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00139 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00139 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00139 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00139 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00139 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00139 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00139 NCBI chr 9:62,269,809...62,420,577 JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00139 NCBI chr12:61,364,154...61,500,827
Ensembl chr12:63,978,116...64,107,463
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00139 NCBI chr19:38,391,618...38,418,826 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00139 NCBI chr 6:78,005,287...78,246,287
Ensembl chr 6:81,276,836...81,516,787
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00139 NCBI chr 1:102,852,585...102,907,146
Ensembl chr 1:101,567,551...101,621,850
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00139 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00139 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00139 NCBI chr 7:28,166,127...28,299,845
Ensembl chr 7:27,763,021...27,896,598
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00139 NCBI chr2B:77,510,938...77,652,911 JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00139 NCBI chr 1:22,993,489...23,017,307
Ensembl chr 1:23,977,723...24,001,150
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00139 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00139 NCBI chr  X:45,645,849...45,649,039
Ensembl chr  X:53,754,164...53,757,643
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00139 NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
JBrowse link
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00139 NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00139 NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00139 NCBI chr2A:71,154,176...71,176,679 JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00139 NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00139 NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00139 NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00139 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270
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 chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00140 NCBI chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00140 NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00140 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00140 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00140 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00140 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00140 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00140 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00140 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00140 NCBI chr 9:62,269,809...62,420,577 JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00140 NCBI chr12:61,364,154...61,500,827
Ensembl chr12:63,978,116...64,107,463
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00140 NCBI chr19:38,391,618...38,418,826 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00140 NCBI chr 6:78,005,287...78,246,287
Ensembl chr 6:81,276,836...81,516,787
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00140 NCBI chr 1:102,852,585...102,907,146
Ensembl chr 1:101,567,551...101,621,850
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00140 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00140 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00140 NCBI chr 7:28,166,127...28,299,845
Ensembl chr 7:27,763,021...27,896,598
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00140 NCBI chr2B:77,510,938...77,652,911 JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00140 NCBI chr 1:22,993,489...23,017,307
Ensembl chr 1:23,977,723...24,001,150
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00140 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00140 NCBI chr  X:45,645,849...45,649,039
Ensembl chr  X:53,754,164...53,757,643
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00140 NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
JBrowse link
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00140 NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00140 NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00140 NCBI chr2A:71,154,176...71,176,679 JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00140 NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00140 NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00140 NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00140 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270
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 chr 9:84,488,339...84,503,360
Ensembl chr 9:112,859,171...112,873,784
JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00344 NCBI chr 3:52,140,423...52,156,656
Ensembl chr 3:53,369,522...53,385,361
JBrowse link
G BLVRA biliverdin reductase A ISO SMPDB SMP:00344 NCBI chr 7:40,444,095...40,492,972
Ensembl chr 7:40,489,360...40,526,132
JBrowse link
G CPOX coproporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr 3:95,674,861...95,689,139
Ensembl chr 3:102,359,382...102,372,170
JBrowse link
G FECH ferrochelatase ISO SMPDB SMP:00344 NCBI chr18:50,934,520...50,977,132
Ensembl chr18:54,273,527...54,312,378
JBrowse link
G FTMT ferritin mitochondrial ISO SMPDB SMP:00344 NCBI chr 5:117,243,371...117,244,872
Ensembl chr 5:123,028,372...123,029,097
JBrowse link
G GUSB glucuronidase beta ISO SMPDB SMP:00344 NCBI chr 7:60,087,130...60,109,289
Ensembl chr 7:64,724,841...64,744,909
JBrowse link
G HMBS hydroxymethylbilane synthase ISO SMPDB SMP:00344 NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757
JBrowse link
G HMOX1 heme oxygenase 1 ISO SMPDB SMP:00344 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
JBrowse link
G LOC100980340 protoheme IX farnesyltransferase, mitochondrial ISO SMPDB SMP:00344 NCBI chr17:37,443,319...37,582,436
Ensembl chr17:42,091,452...42,274,762
JBrowse link
G LOC100993532 cytochrome c oxidase assembly protein COX15 homolog ISO SMPDB SMP:00344 NCBI chr10:96,328,841...96,349,655
Ensembl chr10:99,820,763...99,841,554
JBrowse link
G PPOX protoporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr 1:136,578,846...136,590,466
Ensembl chr 1:140,491,667...140,502,328
JBrowse link
G UROD uroporphyrinogen decarboxylase ISO SMPDB SMP:00344 NCBI chr 1:44,315,912...44,319,356
Ensembl chr 1:45,679,744...45,683,185
JBrowse link
G UROS uroporphyrinogen III synthase ISO SMPDB SMP:00344 NCBI chr10:122,346,072...122,384,405
Ensembl chr10:126,613,732...126,648,363
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 chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00535 NCBI chr 1:143,239,576...143,404,038
Ensembl chr 1:147,023,671...147,129,705
JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00535 NCBI chr22:21,249,920...21,271,749
Ensembl chr22:39,068,764...39,389,221
JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00535 NCBI chr 1:220,020,480...220,063,658
Ensembl chr 1:225,401,544...225,444,984
JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00535 NCBI chr 9:98,987,348...98,997,252
Ensembl chr 9:127,657,338...127,678,245
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00535 NCBI chr 1:87,858,602...87,881,348
Ensembl chr 1:122,912,417...122,934,476
JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00535 NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00535 NCBI chr10:84,473,087...84,544,902
Ensembl chr10:87,981,974...88,048,228
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00535 NCBI chr2B:102,574,700...102,612,492
Ensembl chr2B:221,159,439...221,197,360
JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00535 NCBI chr2A:74,000,969...74,032,993
Ensembl chr2A:75,510,768...75,542,563
JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00535 NCBI chr14:54,522,428...54,578,501
Ensembl chr14:73,376,684...73,410,468
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00535 NCBI chr 9:108,503,511...108,511,822
Ensembl chr 9:137,468,154...137,472,092
JBrowse link
G GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00535 NCBI chr21:19,871,656...19,909,893
Ensembl chr21:33,244,457...33,282,331
JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00535 NCBI chr 9:52,559,752...52,662,886
Ensembl chr 9:70,891,319...70,994,574
JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00535 NCBI chr 6:16,094,994...16,151,499
Ensembl chr 6:16,460,651...16,515,796
JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00535 NCBI chr 3:152,925,905...152,999,180
Ensembl chr 3:160,977,222...161,045,214
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00535 NCBI chr11:101,565,279...101,910,136 JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00535 NCBI chr 4:148,124,643...148,173,315
Ensembl chr 4:159,942,017...159,990,511
JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00535 NCBI chr 1:203,541,866...203,550,827 JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00535 NCBI chr  X:123,609,248...123,650,102
Ensembl chr  X:133,916,681...133,948,197
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00535 NCBI chr 7:120,382,719...120,400,417
Ensembl chr 7:133,036,328...133,053,580
JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00535 NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00535 NCBI chr 3:48,206,365...48,217,618
Ensembl chr 3:49,290,069...49,299,831
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00535 NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513
JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00535 NCBI chr 9:34,165,452...34,179,722
Ensembl chr 9:34,974,240...34,988,453
JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00535 NCBI chr10:12,177,922...12,206,435
Ensembl chr10:12,158,106...12,176,533
JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00535 NCBI chr 4:67,461,799...67,491,300
Ensembl chr 4:74,031,397...74,059,857
JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00535 NCBI chr 6:163,274,252...163,612,749
Ensembl chr 6:168,265,707...168,645,231
JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00535 NCBI chr 5:53,510,287...55,039,181
Ensembl chr 5:55,749,214...56,670,111
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00535 NCBI chr17:43,389,389...43,409,454
Ensembl chr17:48,121,606...48,141,720
JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00535 NCBI chr14:1,343,921...1,351,670
Ensembl chr14:19,396,114...19,403,907
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00535 NCBI chr 4:67,491,407...67,533,822
Ensembl chr 4:74,059,966...74,102,002
JBrowse link
G PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00535 NCBI chr 7:18,680,579...18,681,655 JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00535 NCBI chr11:3,956,528...3,999,205
Ensembl chr11:4,068,119...4,110,474
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00535 NCBI chr2A:10,119,508...10,128,318
Ensembl chr2A:10,275,598...10,284,640
JBrowse link
G TXN thioredoxin ISO SMPDB SMP:00535 NCBI chr 9:81,399,056...81,411,607
Ensembl chr 9:109,565,557...109,578,311
JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00535 NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
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 chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00537 NCBI chr 1:143,239,576...143,404,038
Ensembl chr 1:147,023,671...147,129,705
JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00537 NCBI chr22:21,249,920...21,271,749
Ensembl chr22:39,068,764...39,389,221
JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00537 NCBI chr 1:220,020,480...220,063,658
Ensembl chr 1:225,401,544...225,444,984
JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00537 NCBI chr 9:98,987,348...98,997,252
Ensembl chr 9:127,657,338...127,678,245
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00537 NCBI chr 1:87,858,602...87,881,348
Ensembl chr 1:122,912,417...122,934,476
JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00537 NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00537 NCBI chr10:84,473,087...84,544,902
Ensembl chr10:87,981,974...88,048,228
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00537 NCBI chr2B:102,574,700...102,612,492
Ensembl chr2B:221,159,439...221,197,360
JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00537 NCBI chr2A:74,000,969...74,032,993
Ensembl chr2A:75,510,768...75,542,563
JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00537 NCBI chr14:54,522,428...54,578,501
Ensembl chr14:73,376,684...73,410,468
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00537 NCBI chr 9:108,503,511...108,511,822
Ensembl chr 9:137,468,154...137,472,092
JBrowse link
G GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00537 NCBI chr21:19,871,656...19,909,893
Ensembl chr21:33,244,457...33,282,331
JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00537 NCBI chr 9:52,559,752...52,662,886
Ensembl chr 9:70,891,319...70,994,574
JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00537 NCBI chr 6:16,094,994...16,151,499
Ensembl chr 6:16,460,651...16,515,796
JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00537 NCBI chr 3:152,925,905...152,999,180
Ensembl chr 3:160,977,222...161,045,214
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00537 NCBI chr11:101,565,279...101,910,136 JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00537 NCBI chr 4:148,124,643...148,173,315
Ensembl chr 4:159,942,017...159,990,511
JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00537 NCBI chr 1:203,541,866...203,550,827 JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00537 NCBI chr  X:123,609,248...123,650,102
Ensembl chr  X:133,916,681...133,948,197
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00537 NCBI chr 7:120,382,719...120,400,417
Ensembl chr 7:133,036,328...133,053,580
JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00537 NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00537 NCBI chr 3:48,206,365...48,217,618
Ensembl chr 3:49,290,069...49,299,831
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00537 NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513
JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00537 NCBI chr 9:34,165,452...34,179,722
Ensembl chr 9:34,974,240...34,988,453
JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00537 NCBI chr10:12,177,922...12,206,435
Ensembl chr10:12,158,106...12,176,533
JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00537 NCBI chr 4:67,461,799...67,491,300
Ensembl chr 4:74,031,397...74,059,857
JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00537 NCBI chr 6:163,274,252...163,612,749
Ensembl chr 6:168,265,707...168,645,231
JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00537 NCBI chr 5:53,510,287...55,039,181
Ensembl chr 5:55,749,214...56,670,111
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00537 NCBI chr17:43,389,389...43,409,454
Ensembl chr17:48,121,606...48,141,720
JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00537 NCBI chr14:1,343,921...1,351,670
Ensembl chr14:19,396,114...19,403,907
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00537 NCBI chr 4:67,491,407...67,533,822
Ensembl chr 4:74,059,966...74,102,002
JBrowse link
G PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00537 NCBI chr 7:18,680,579...18,681,655 JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00537 NCBI chr11:3,956,528...3,999,205
Ensembl chr11:4,068,119...4,110,474
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00537 NCBI chr2A:10,119,508...10,128,318
Ensembl chr2A:10,275,598...10,284,640
JBrowse link
G TXN thioredoxin ISO SMPDB SMP:00537 NCBI chr 9:81,399,056...81,411,607
Ensembl chr 9:109,565,557...109,578,311
JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00537 NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
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 chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00167 NCBI chr 1:143,239,576...143,404,038
Ensembl chr 1:147,023,671...147,129,705
JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00167 NCBI chr22:21,249,920...21,271,749
Ensembl chr22:39,068,764...39,389,221
JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00167 NCBI chr 1:220,020,480...220,063,658
Ensembl chr 1:225,401,544...225,444,984
JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00167 NCBI chr 9:98,987,348...98,997,252
Ensembl chr 9:127,657,338...127,678,245
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00167 NCBI chr 1:87,858,602...87,881,348
Ensembl chr 1:122,912,417...122,934,476
JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00167 NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00167 NCBI chr10:84,473,087...84,544,902
Ensembl chr10:87,981,974...88,048,228
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00167 NCBI chr2B:102,574,700...102,612,492
Ensembl chr2B:221,159,439...221,197,360
JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00167 NCBI chr2A:74,000,969...74,032,993
Ensembl chr2A:75,510,768...75,542,563
JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00167 NCBI chr14:54,522,428...54,578,501
Ensembl chr14:73,376,684...73,410,468
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00167 NCBI chr 9:108,503,511...108,511,822
Ensembl chr 9:137,468,154...137,472,092
JBrowse link
G GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00167 NCBI chr21:19,871,656...19,909,893
Ensembl chr21:33,244,457...33,282,331
JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00167 NCBI chr 9:52,559,752...52,662,886
Ensembl chr 9:70,891,319...70,994,574
JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00167 NCBI chr 6:16,094,994...16,151,499
Ensembl chr 6:16,460,651...16,515,796
JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00167 NCBI chr 3:152,925,905...152,999,180
Ensembl chr 3:160,977,222...161,045,214
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00167 NCBI chr11:101,565,279...101,910,136 JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00167 NCBI chr 4:148,124,643...148,173,315
Ensembl chr 4:159,942,017...159,990,511
JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00167 NCBI chr 1:203,541,866...203,550,827 JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00167 NCBI chr  X:123,609,248...123,650,102
Ensembl chr  X:133,916,681...133,948,197
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00167 NCBI chr 7:120,382,719...120,400,417
Ensembl chr 7:133,036,328...133,053,580
JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00167 NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00167 NCBI chr 3:48,206,365...48,217,618
Ensembl chr 3:49,290,069...49,299,831
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00167 NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513
JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00167 NCBI chr 9:34,165,452...34,179,722
Ensembl chr 9:34,974,240...34,988,453
JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00167 NCBI chr10:12,177,922...12,206,435
Ensembl chr10:12,158,106...12,176,533
JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00167 NCBI chr 4:67,461,799...67,491,300
Ensembl chr 4:74,031,397...74,059,857
JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00167 NCBI chr 6:163,274,252...163,612,749
Ensembl chr 6:168,265,707...168,645,231
JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00167 NCBI chr 5:53,510,287...55,039,181
Ensembl chr 5:55,749,214...56,670,111
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00167 NCBI chr17:43,389,389...43,409,454
Ensembl chr17:48,121,606...48,141,720
JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00167 NCBI chr14:1,343,921...1,351,670
Ensembl chr14:19,396,114...19,403,907
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00167 NCBI chr 4:67,491,407...67,533,822
Ensembl chr 4:74,059,966...74,102,002
JBrowse link
G PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00167 NCBI chr 7:18,680,579...18,681,655 JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00167 NCBI chr11:3,956,528...3,999,205
Ensembl chr11:4,068,119...4,110,474
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00167 NCBI chr2A:10,119,508...10,128,318
Ensembl chr2A:10,275,598...10,284,640
JBrowse link
G TXN thioredoxin ISO SMPDB SMP:00167 NCBI chr 9:81,399,056...81,411,607
Ensembl chr 9:109,565,557...109,578,311
JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00167 NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
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:143,275,165...143,295,283
Ensembl chr  X:153,162,412...153,182,424
JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00516 NCBI chr12:49,082,122...49,158,524
Ensembl chr12:49,941,914...50,011,140
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00516 NCBI chr 4:176,920,811...176,991,495
Ensembl chr 4:189,145,403...189,198,646
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00516 NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
JBrowse link
G CRAT carnitine O-acetyltransferase ISO SMPDB SMP:00516 NCBI chr 9:100,220,019...100,236,061
Ensembl chr 9:128,880,057...128,896,484
JBrowse link
G CROT carnitine O-octanoyltransferase ISO SMPDB SMP:00516 NCBI chr 7:79,339,498...79,393,676
Ensembl chr 7:92,989,868...93,043,832
JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00516 NCBI chr19:6,763,676...6,782,075
Ensembl chr19:7,626,021...7,639,174
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00516 NCBI chr2A:61,108,970...61,143,615
Ensembl chr2A:62,250,887...62,285,151
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00516 NCBI chr 1:9,234,928...9,391,086
Ensembl chr 1:10,459,884...10,614,187
JBrowse link
G SLC25A20 solute carrier family 25 member 20 ISO SMPDB SMP:00516 NCBI chr 3:48,782,960...48,824,616
Ensembl chr 3:49,863,259...49,901,839
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 1:17,829,723...17,861,008
Ensembl chr 1:18,878,421...18,909,615
JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00362, SMP:00507 NCBI chr 7:59,971,529...59,988,722
Ensembl chr 7:73,142,842...73,157,472
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
JBrowse link
G CKB creatine kinase B ISO SMPDB SMP:00362, SMP:00507 NCBI chr14:84,145,931...84,149,093 JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00362, SMP:00507 NCBI chr12:106,453,807...106,475,409
Ensembl chr12:109,849,995...109,870,065
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr 1:195,537,319...195,618,257
Ensembl chr 1:200,575,259...200,656,197
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00362, SMP:00507 Ensembl chr19:1,371,312...1,375,461 JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chr15:24,309,045...24,326,673
Ensembl chr15:42,639,597...42,657,209
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr10:96,012,345...96,046,266
Ensembl chr10:99,506,205...99,540,178
JBrowse link
G LOC100987322 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00362, SMP:00507 NCBI chr22:1,654,019...1,678,389 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chr10:120,955,805...120,977,484
Ensembl chr10:125,224,032...125,245,504
JBrowse link
G OTC ornithine carbamoyltransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00362, SMP:00507 NCBI chr11:69,333,199...69,385,012
Ensembl chr11:72,647,004...72,691,294
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00362, SMP:00507 NCBI chr 1:201,381,270...201,385,703 JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00362, SMP:00507 NCBI chr 6:85,391,061...85,466,888
Ensembl chr 6:88,665,543...88,741,371
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00362, SMP:00507 NCBI chr13:21,996,153...22,066,574
Ensembl chr13:40,589,689...40,608,994
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 chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00168 NCBI chr 1:143,239,576...143,404,038
Ensembl chr 1:147,023,671...147,129,705
JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00168 NCBI chr22:21,249,920...21,271,749
Ensembl chr22:39,068,764...39,389,221
JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00168 NCBI chr 1:220,020,480...220,063,658
Ensembl chr 1:225,401,544...225,444,984
JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00168 NCBI chr 9:98,987,348...98,997,252
Ensembl chr 9:127,657,338...127,678,245
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00168 NCBI chr 1:87,858,602...87,881,348
Ensembl chr 1:122,912,417...122,934,476
JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00168 NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00168 NCBI chr10:84,473,087...84,544,902
Ensembl chr10:87,981,974...88,048,228
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00168 NCBI chr2B:102,574,700...102,612,492
Ensembl chr2B:221,159,439...221,197,360
JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00168 NCBI chr2A:74,000,969...74,032,993
Ensembl chr2A:75,510,768...75,542,563
JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00168 NCBI chr14:54,522,428...54,578,501
Ensembl chr14:73,376,684...73,410,468
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00168 NCBI chr 9:108,503,511...108,511,822
Ensembl chr 9:137,468,154...137,472,092
JBrowse link
G GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00168 NCBI chr21:19,871,656...19,909,893
Ensembl chr21:33,244,457...33,282,331
JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00168 NCBI chr 9:52,559,752...52,662,886
Ensembl chr 9:70,891,319...70,994,574
JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00168 NCBI chr 6:16,094,994...16,151,499
Ensembl chr 6:16,460,651...16,515,796
JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00168 NCBI chr 3:152,925,905...152,999,180
Ensembl chr 3:160,977,222...161,045,214
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00168 NCBI chr11:101,565,279...101,910,136 JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00168 NCBI chr 4:148,124,643...148,173,315
Ensembl chr 4:159,942,017...159,990,511
JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00168 NCBI chr 1:203,541,866...203,550,827 JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00168 NCBI chr  X:123,609,248...123,650,102
Ensembl chr  X:133,916,681...133,948,197
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00168 NCBI chr 7:120,382,719...120,400,417
Ensembl chr 7:133,036,328...133,053,580
JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00168 NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00168 NCBI chr 3:48,206,365...48,217,618
Ensembl chr 3:49,290,069...49,299,831
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00168 NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513
JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00168 NCBI chr 9:34,165,452...34,179,722
Ensembl chr 9:34,974,240...34,988,453
JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00168 NCBI chr10:12,177,922...12,206,435
Ensembl chr10:12,158,106...12,176,533
JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00168 NCBI chr 4:67,461,799...67,491,300
Ensembl chr 4:74,031,397...74,059,857
JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00168 NCBI chr 6:163,274,252...163,612,749
Ensembl chr 6:168,265,707...168,645,231
JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00168 NCBI chr 5:53,510,287...55,039,181
Ensembl chr 5:55,749,214...56,670,111
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00168 NCBI chr17:43,389,389...43,409,454
Ensembl chr17:48,121,606...48,141,720
JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00168 NCBI chr14:1,343,921...1,351,670
Ensembl chr14:19,396,114...19,403,907
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00168 NCBI chr 4:67,491,407...67,533,822
Ensembl chr 4:74,059,966...74,102,002
JBrowse link
G PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00168 NCBI chr 7:18,680,579...18,681,655 JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00168 NCBI chr11:3,956,528...3,999,205
Ensembl chr11:4,068,119...4,110,474
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00168 NCBI chr2A:10,119,508...10,128,318
Ensembl chr2A:10,275,598...10,284,640
JBrowse link
G TXN thioredoxin ISO SMPDB SMP:00168 NCBI chr 9:81,399,056...81,411,607
Ensembl chr 9:109,565,557...109,578,311
JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00168 NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
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 chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383
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 chr17:31,384,740...31,395,719
Ensembl chr17:36,531,720...36,542,504
JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00169 NCBI chr 7:142,434,732...142,443,050
Ensembl chr 7:154,563,523...154,595,248
JBrowse link
G COMT catechol-O-methyltransferase ISO SMPDB SMP:00169 NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387
JBrowse link
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00169 NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697
JBrowse link
G DCT dopachrome tautomerase ISO SMPDB SMP:00169 NCBI chr13:75,590,366...75,730,956
Ensembl chr13:94,773,794...94,816,083
JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00169 NCBI chr 7:51,101,169...51,206,031
Ensembl chr 7:51,345,228...51,449,710
JBrowse link
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00169 NCBI chr15:59,121,657...59,155,229
Ensembl chr15:78,048,571...78,115,098
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00169 NCBI chr10:96,012,345...96,046,266
Ensembl chr10:99,506,205...99,540,178
JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00169 NCBI chr14:57,874,184...57,901,397
Ensembl chr14:77,075,814...77,086,530
JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00169 NCBI chr2A:42,857,216...42,882,738
Ensembl chr2A:43,704,468...43,729,887
JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00169 NCBI chr 3:117,735,772...117,790,096
Ensembl chr 3:124,646,431...124,700,733
JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00169 NCBI chr12:119,442,893...119,462,171
Ensembl chr12:122,813,141...122,831,701
JBrowse link
G LOC100971436 alcohol dehydrogenase 1A ISO SMPDB SMP:00169 NCBI chr 4:91,697,663...91,712,314
Ensembl chr 4:102,359,419...102,374,101
JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00169 NCBI chr  X:36,106,680...36,197,907
Ensembl chr  X:43,931,044...44,022,199
JBrowse link
G MIF macrophage migration inhibitory factor ISO SMPDB SMP:00169 NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009
JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00169 NCBI chr17:17,618,399...17,620,691
Ensembl chr17:17,835,277...17,837,180
JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00169 NCBI chr16:53,434,028...53,443,624
Ensembl chr16:71,404,399...71,413,886
JBrowse link
G TYR tyrosinase ISO SMPDB SMP:00169 NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138
JBrowse link
Alzheimer's disease pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSEN2 presenilin 2 ISO DNA:missense mutation:cds:p.N141I (human) RGD PMID:10976645 RGD:9743900 NCBI chr 1:202,328,987...202,354,440
Ensembl chr 1:207,320,937...207,346,295
JBrowse link
G UBE2D3 ubiquitin conjugating enzyme E2 D3 ISO RGD PMID:11020223 RGD:1302873 NCBI chr 4:95,218,319...95,293,053 JBrowse link
G UBE2D4 ubiquitin conjugating enzyme E2 D4 (putative) ISO RGD PMID:11020223 RGD:1302873 NCBI chr 7:40,295,047...40,324,705 JBrowse link
G UBE2G1 ubiquitin conjugating enzyme E2 G1 ISO RGD PMID:11020223 RGD:1302873 NCBI chr17:4,321,294...4,416,936
Ensembl chr17:4,312,625...4,351,697
JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I ISO RGD PMID:11020223 RGD:1302873 Ensembl chr16:1,367,288...1,382,575 JBrowse link
G UBE2N ubiquitin conjugating enzyme E2 N ISO RGD PMID:11020223 RGD:1302873 NCBI chr12:90,951,446...90,984,075 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 chr11:35,223,811...35,392,799
Ensembl chr11:35,107,920...35,265,878
JBrowse link
G SOD1 superoxide dismutase 1 ISO RGD PMID:8446170, PMID:16583367 RGD:1581209, RGD:737689 NCBI chr21:18,029,831...18,037,526 JBrowse link
apparent mineralocorticoid excess syndrome pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1C4 aldo-keto reductase family 1 member C4 ISO SMPDB SMP:00717 NCBI chr10:5,247,368...5,271,554
Ensembl chr10:5,234,188...5,258,201
JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00717 NCBI chr 7:130,023,017...130,076,397
Ensembl chr 7:142,525,467...142,571,331
JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO SMPDB SMP:00717 NCBI chr15:53,280,110...53,310,868
Ensembl chr15:72,901,286...72,931,164
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO SMPDB SMP:00717 NCBI chr 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO SMPDB SMP:00717 NCBI chr10:99,431,762...99,439,619 JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00717 NCBI chr 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00717 NCBI chr16:47,776,118...47,782,861
Ensembl chr16:67,165,215...67,171,417
JBrowse link
G LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 ISO SMPDB SMP:00717 NCBI chr 1:83,130,065...83,156,996
Ensembl chr 1:118,128,493...118,153,124
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 chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chr 7:59,971,529...59,988,722
Ensembl chr 7:73,142,842...73,157,472
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chr12:32,426,264...32,443,690
Ensembl chr12:32,678,814...32,696,694
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00003 NCBI chr16:38,995,770...39,022,750
Ensembl chr16:58,120,781...58,147,378
JBrowse link
G OTC ornithine carbamoyltransferase ISO SMPDB SMP:00003 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chr2B:59,071,123...59,297,327
Ensembl chr2B:176,532,940...176,641,894
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chr13:21,996,153...22,066,574
Ensembl chr13:40,589,689...40,608,994
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 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697
JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00170 NCBI chr 7:51,101,169...51,206,031
Ensembl chr 7:51,345,228...51,449,710
JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00170 NCBI chr17:17,618,399...17,620,691
Ensembl chr17:17,835,277...17,837,180
JBrowse link
G TH tyrosine hydroxylase ISO SMPDB SMP:00170 NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433
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 chr17:4,686,339...4,696,877
Ensembl chr17:4,677,125...4,687,669
JBrowse link
G LDLR low density lipoprotein receptor ISO RGD PMID:12969990 RGD:1581826 NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
JBrowse link
G LMNA lamin A/C ISO RGD PMID:15205220 RGD:1580530 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:15662225 RGD:1582524 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
JBrowse link
beta-ureidopropionase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK3 adenylate kinase 3 ISO SMPDB SMP:00172 NCBI chr 9:4,541,984...4,576,341
Ensembl chr 9:4,732,847...4,762,900
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00172 NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804
JBrowse link
G CANT1 calcium activated nucleotidase 1 ISO SMPDB SMP:00172 NCBI chr17:73,068,196...73,086,900
Ensembl chr17:78,614,244...78,618,317
JBrowse link
G CDA cytidine deaminase ISO SMPDB SMP:00172 NCBI chr 1:19,538,696...19,568,008
Ensembl chr 1:20,583,441...20,612,711
JBrowse link
G CMPK2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00172 NCBI chr2A:6,856,242...6,874,567 JBrowse link
G CTPS1 CTP synthase 1 ISO SMPDB SMP:00172 NCBI chr 1:40,275,581...40,308,421
Ensembl chr 1:41,592,509...41,624,455
JBrowse link
G DCTD dCMP deaminase ISO SMPDB SMP:00172 NCBI chr 4:175,079,416...175,106,756
Ensembl chr 4:187,303,591...187,330,527
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00172 NCBI chr16:52,977,879...52,994,496
Ensembl chr16:71,854,238...71,870,673
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00172 NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100
JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00172 NCBI chr 8:101,008,090...101,096,234
Ensembl chr 8:103,160,922...103,248,303
JBrowse link
G DUT deoxyuridine triphosphatase ISO SMPDB SMP:00172 NCBI chr15:27,280,025...27,292,003
Ensembl chr15:45,603,807...45,616,022
JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00172 NCBI chr 9:52,559,752...52,662,886
Ensembl chr 9:70,891,319...70,994,574
JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00172 NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00172 NCBI chr 3:48,206,365...48,217,618
Ensembl chr 3:49,290,069...49,299,831
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00172 NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00172 NCBI chr2A:10,119,508...10,128,318
Ensembl chr2A:10,275,598...10,284,640
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00172 NCBI chr 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056
JBrowse link
G TK1 thymidine kinase 1 ISO SMPDB SMP:00172 NCBI chr17:72,251,416...72,265,308
Ensembl chr17:77,803,749...77,816,747
JBrowse link
G TYMP thymidine phosphorylase ISO SMPDB SMP:00172 NCBI chr22:30,772,088...30,776,618 JBrowse link
G TYMS thymidylate synthetase ISO SMPDB SMP:00172 NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320
JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 ISO SMPDB SMP:00172 Ensembl chr20:61,860,084...61,876,194 JBrowse link
G UMPS uridine monophosphate synthetase ISO SMPDB SMP:00172 NCBI chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029
JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00172 NCBI chr22:5,300,686...5,332,735
Ensembl chr22:22,166,370...22,197,360
JBrowse link
G UPP2 uridine phosphorylase 2 ISO SMPDB SMP:00172 NCBI chr2B:45,363,103...45,400,281
Ensembl chr2B:162,496,507...162,636,231
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 chr 3:15,526,339...15,575,475
Ensembl chr 3:15,863,489...15,907,497
JBrowse link
G HLCS holocarboxylase synthetase ISO SMPDB SMP:00174 NCBI chr21:23,112,477...23,352,121
Ensembl chr21:36,470,872...36,655,688
JBrowse link
G SPCS1 signal peptidase complex subunit 1 ISO SMPDB SMP:00174 NCBI chr 3:52,646,427...52,648,786
Ensembl chr 3:53,873,921...53,876,229
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 chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
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 chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00175 NCBI chr22:21,249,920...21,271,749
Ensembl chr22:39,068,764...39,389,221
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00175 NCBI chr 7:59,971,529...59,988,722
Ensembl chr 7:73,142,842...73,157,472
JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) ISO SMPDB SMP:00175 NCBI chr 7:89,811,363...89,831,733
Ensembl chr 7:103,392,540...103,413,046
JBrowse link
G ASPA aspartoacylase ISO SMPDB SMP:00175 NCBI chr17:3,492,304...3,517,882
Ensembl chr17:3,522,858...3,546,279
JBrowse link
G ASRGL1 asparaginase and isoaspartyl peptidase 1 ISO SMPDB SMP:00175 NCBI chr11:57,700,104...57,750,371
Ensembl chr11:61,056,817...61,107,485
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00175 NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804
JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr2B:23,876,931...23,956,032
Ensembl chr2B:139,977,483...140,056,836
JBrowse link
G DDO D-aspartate oxidase ISO SMPDB SMP:00175 NCBI chr 6:108,199,861...108,223,844
Ensembl chr 6:112,269,271...112,292,980
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00175 NCBI chr2B:58,100,623...58,145,045
Ensembl chr2B:175,558,538...175,602,944
JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00175 NCBI chr19:46,902,656...46,942,213
Ensembl chr19:55,819,080...55,858,389
JBrowse link
G NARS1 asparaginyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr18:50,991,047...51,011,628
Ensembl chr18:54,326,053...54,346,454
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 chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr 7:59,971,529...59,988,722
Ensembl chr 7:73,142,842...73,157,472
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr12:32,426,264...32,443,690
Ensembl chr12:32,678,814...32,696,694
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr16:38,995,770...39,022,750
Ensembl chr16:58,120,781...58,147,378
JBrowse link
G OTC ornithine carbamoyltransferase ISO SMPDB SMP:00002 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr2B:59,071,123...59,297,327
Ensembl chr2B:176,532,940...176,641,894
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr13:21,996,153...22,066,574
Ensembl chr13:40,589,689...40,608,994
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 chr17:63,342,720...63,483,926
Ensembl chr17:68,730,011...68,870,454
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 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966
JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:15996002 RGD:1580474 NCBI chr12:99,986,887...100,066,773 JBrowse link
G SOD3 superoxide dismutase 3 ISO RGD PMID:16014615 RGD:1579965 NCBI chr 4:19,195,941...19,201,298
Ensembl chr 4:24,485,059...24,485,781
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 chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00538 NCBI chr2B:97,445,421...97,483,514
Ensembl chr2B:215,847,775...215,885,524
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00538 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00538 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00538 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00538 NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00538 NCBI chr 4:176,920,811...176,991,495
Ensembl chr 4:189,145,403...189,198,646
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chr2A:26,185,938...26,240,229
Ensembl chr2A:26,279,995...26,334,068
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chr2A:26,240,365...26,285,982
Ensembl chr2A:26,334,043...26,379,059
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:143,275,165...143,295,283
Ensembl chr  X:153,162,412...153,182,424
JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chr12:49,082,122...49,158,524
Ensembl chr12:49,941,914...50,011,140
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00517 NCBI chr 4:176,920,811...176,991,495
Ensembl chr 4:189,145,403...189,198,646
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
JBrowse link
G CRAT carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chr 9:100,220,019...100,236,061
Ensembl chr 9:128,880,057...128,896,484
JBrowse link
G CROT carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chr 7:79,339,498...79,393,676
Ensembl chr 7:92,989,868...93,043,832
JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chr19:6,763,676...6,782,075
Ensembl chr19:7,626,021...7,639,174
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chr2A:61,108,970...61,143,615
Ensembl chr2A:62,250,887...62,285,151
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chr 1:9,234,928...9,391,086
Ensembl chr 1:10,459,884...10,614,187
JBrowse link
G SLC25A20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chr 3:48,782,960...48,824,616
Ensembl chr 3:49,863,259...49,901,839
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 chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00493 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chr18:67,920,453...67,982,843
Ensembl chr18:71,162,331...71,188,879
Ensembl chr18:71,162,331...71,188,879
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100
JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chr 8:101,008,090...101,096,234
Ensembl chr 8:103,160,922...103,248,303
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chr2B:58,100,623...58,145,045
Ensembl chr2B:175,558,538...175,602,944
JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chr22:5,300,686...5,332,735
Ensembl chr22:22,166,370...22,197,360
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 chr 3:58,442,532...58,474,601
Ensembl chr 3:59,852,771...59,884,548
JBrowse link
G AKR1C4 aldo-keto reductase family 1 member C4 ISO SMPDB SMP:00315 NCBI chr10:5,247,368...5,271,554
Ensembl chr10:5,234,188...5,258,201
JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00315 NCBI chr 7:130,023,017...130,076,397
Ensembl chr 7:142,525,467...142,571,331
JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chr 5:76,336,631...76,358,724
Ensembl chr 5:81,687,891...81,742,003
JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00315 NCBI chr 9:72,568,002...72,593,179
Ensembl chr 9:100,563,040...100,586,189
JBrowse link
G CH25H cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chr10:85,930,638...85,932,065
Ensembl chr10:89,471,441...89,472,259
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474
JBrowse link
G CYP39A1 cytochrome P450 family 39 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr 6:46,132,584...46,235,578
Ensembl chr 6:47,404,969...47,507,600
JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr14:80,309,698...80,352,181
Ensembl chr14:99,628,511...99,671,218
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr 8:54,942,509...54,952,500
Ensembl chr 8:56,593,799...56,604,037
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr 8:61,135,307...61,335,838
Ensembl chr 8:62,806,637...63,006,386
JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr 3:42,775,679...42,779,440
Ensembl chr 3:43,824,423...43,842,716
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chr 5:114,842,892...114,928,559
Ensembl chr 5:120,628,605...120,713,860
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chr16:23,979,487...23,984,225
Ensembl chr16:31,352,322...31,356,803
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00315 NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
JBrowse link
G SCP2 sterol carrier protein 2 ISO SMPDB SMP:00315 NCBI chr 1:52,195,491...52,324,227
Ensembl chr 1:53,797,254...53,924,939
JBrowse link
G SLC27A5 solute carrier family 27 member 5 ISO SMPDB SMP:00315 NCBI chr19:55,507,455...55,520,448
Ensembl chr19:64,329,567...64,342,630
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 6:157,644,894...157,661,965
Ensembl chr 6:162,656,497...162,673,606
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00508 NCBI chr 7:84,110,130...84,132,870
Ensembl chr 7:97,708,806...97,729,824
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chr 1:54,126,170...54,163,713
Ensembl chr 1:55,714,693...55,754,698
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00508 NCBI chr  X:40,820,042...40,826,957 JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00508 NCBI chr 8:7,363,250...7,399,863 JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00508 NCBI chr 1:130,653,316...130,665,196
Ensembl chr 1:134,258,968...134,270,237
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chr 1:210,874,385...210,888,647
Ensembl chr 1:215,888,966...215,902,845
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00508 NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00508 NCBI chr 5:67,067,001...67,091,786
Ensembl chr 5:72,116,228...72,141,050
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chr 1:138,204,544...138,226,689 JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00508 NCBI chr10:1,078,107...1,087,054
Ensembl chr10:1,124,920...1,133,234
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00508 NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00508 NCBI chr21:32,535,564...32,571,379
Ensembl chr21:45,787,252...45,822,181
JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00508 NCBI chr 4:157,523,099...157,538,508
Ensembl chr 4:169,606,809...169,622,212
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00508 NCBI chr16:69,365,070...69,376,149
Ensembl chr16:89,025,572...89,036,964
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00508 NCBI chr12:107,150,477...107,173,978
Ensembl chr12:110,544,991...110,568,524
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00508 NCBI chr  X:142,405,340...142,443,723
Ensembl chr  X:152,324,553...152,362,931
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chr 1:130,273,246...130,286,614
Ensembl chr 1:133,882,840...133,894,818
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chr11:116,139,979...116,160,745
Ensembl chr11:120,063,743...120,078,386
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00508 NCBI chr 8:121,684,269...121,708,131
Ensembl chr 8:124,435,668...124,459,441
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chr11:60,473,934...60,478,579
Ensembl chr11:63,812,769...63,816,812
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 chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chr 7:59,971,529...59,988,722
Ensembl chr 7:73,142,842...73,157,472
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chr12:32,426,264...32,443,690
Ensembl chr12:32,678,814...32,696,694
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00001 NCBI chr16:38,995,770...39,022,750
Ensembl chr16:58,120,781...58,147,378
JBrowse link
G OTC ornithine carbamoyltransferase ISO SMPDB SMP:00001 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chr2B:59,071,123...59,297,327
Ensembl chr2B:176,532,940...176,641,894
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chr13:21,996,153...22,066,574
Ensembl chr13:40,589,689...40,608,994
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 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
JBrowse link
G AXIN1 axin 1 ISO RGD PMID:18432252 RGD:2293188 Ensembl chr16:278,239...337,891 JBrowse link
G AXIN2 axin 2 ISO RGD PMID:18432252 RGD:2293188 NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO RGD PMID:18098337 RGD:2298531 NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
JBrowse link
G CTNNB1 catenin beta 1 ISO RGD PMID:18432252 RGD:2293188 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:16112461 RGD:2306732 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
JBrowse link
G LOC100976787 mismatch repair endonuclease PMS2 ISO RGD PMID:11900875 RGD:2306714 NCBI chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
JBrowse link
G MLH1 mutL homolog 1 ISO RGD PMID:11900875 RGD:2306714 NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
JBrowse link
G MSH2 mutS homolog 2 ISO RGD PMID:11900875 RGD:2306714 NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
JBrowse link
G MSH6 mutS homolog 6 ISO RGD PMID:11900875 RGD:2306714 NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO RGD PMID:11900875 RGD:2306714 NCBI chr2B:77,090,215...77,180,724
Ensembl chr2B:195,010,233...195,100,492
JBrowse link
G SMAD2 SMAD family member 2 ISO RGD PMID:17613544, PMID:18662538 RGD:2306282, RGD:2308865 NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530
JBrowse link
G SMAD3 SMAD family member 3 ISO RGD PMID:17613544 RGD:2306282 NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185
JBrowse link
G SMAD4 SMAD family member 4 ISO RGD PMID:17613544, PMID:18662538 RGD:2306282, RGD:2308865 NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
JBrowse link
G SMAD7 SMAD family member 7 ISO RGD PMID:18662538 RGD:2308865 NCBI chr18:42,306,324...42,337,214 JBrowse link
G TGFB1 transforming growth factor beta 1 ISO RGD PMID:17613544 RGD:2306282 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO RGD PMID:17613544 RGD:2306282 NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO RGD PMID:17613544, PMID:18662538 RGD:2306282, RGD:2308865 NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856
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 chr 3:58,442,532...58,474,601
Ensembl chr 3:59,852,771...59,884,548
JBrowse link
G AKR1C4 aldo-keto reductase family 1 member C4 ISO SMPDB SMP:00314, SMP:00318 NCBI chr10:5,247,368...5,271,554
Ensembl chr10:5,234,188...5,258,201
JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 7:130,023,017...130,076,397
Ensembl chr 7:142,525,467...142,571,331
JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO SMPDB SMP:00314, SMP:00318 NCBI chr 5:76,336,631...76,358,724
Ensembl chr 5:81,687,891...81,742,003
JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00314, SMP:00318 NCBI chr 9:72,568,002...72,593,179
Ensembl chr 9:100,563,040...100,586,189
JBrowse link
G CH25H cholesterol 25-hydroxylase ISO SMPDB SMP:00314, SMP:00318 NCBI chr10:85,930,638...85,932,065
Ensembl chr10:89,471,441...89,472,259
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474
JBrowse link
G CYP39A1 cytochrome P450 family 39 subfamily A member 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 6:46,132,584...46,235,578
Ensembl chr 6:47,404,969...47,507,600
JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr14:80,309,698...80,352,181
Ensembl chr14:99,628,511...99,671,218
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 8:54,942,509...54,952,500
Ensembl chr 8:56,593,799...56,604,037
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 8:61,135,307...61,335,838
Ensembl chr 8:62,806,637...63,006,386
JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 3:42,775,679...42,779,440
Ensembl chr 3:43,824,423...43,842,716
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 5:114,842,892...114,928,559
Ensembl chr 5:120,628,605...120,713,860
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00314, SMP:00318 NCBI chr16:23,979,487...23,984,225
Ensembl chr16:31,352,322...31,356,803
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00314, SMP:00318 NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
JBrowse link
G SCP2 sterol carrier protein 2 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 1:52,195,491...52,324,227
Ensembl chr 1:53,797,254...53,924,939
JBrowse link
G SLC27A5 solute carrier family 27 member 5 ISO SMPDB SMP:00314, SMP:00318 NCBI chr19:55,507,455...55,520,448
Ensembl chr19:64,329,567...64,342,630
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 6:157,644,894...157,661,965
Ensembl chr 6:162,656,497...162,673,606
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00387 NCBI chr 7:84,110,130...84,132,870
Ensembl chr 7:97,708,806...97,729,824
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00387 NCBI chr 1:54,126,170...54,163,713
Ensembl chr 1:55,714,693...55,754,698
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00387 NCBI chr  X:40,820,042...40,826,957 JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00387 NCBI chr 8:7,363,250...7,399,863 JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00387 NCBI chr 1:130,653,316...130,665,196
Ensembl chr 1:134,258,968...134,270,237
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00387 NCBI chr 1:210,874,385...210,888,647
Ensembl chr 1:215,888,966...215,902,845
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00387 NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00387 NCBI chr 5:67,067,001...67,091,786
Ensembl chr 5:72,116,228...72,141,050
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00387 NCBI chr 1:138,204,544...138,226,689 JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00387 NCBI chr10:1,078,107...1,087,054
Ensembl chr10:1,124,920...1,133,234
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00387 NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00387 NCBI chr21:32,535,564...32,571,379
Ensembl chr21:45,787,252...45,822,181
JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00387 NCBI chr 4:157,523,099...157,538,508
Ensembl chr 4:169,606,809...169,622,212
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00387 NCBI chr16:69,365,070...69,376,149
Ensembl chr16:89,025,572...89,036,964
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00387 NCBI chr12:107,150,477...107,173,978
Ensembl chr12:110,544,991...110,568,524
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00387 NCBI chr  X:142,405,340...142,443,723
Ensembl chr  X:152,324,553...152,362,931
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00387 NCBI chr 1:130,273,246...130,286,614
Ensembl chr 1:133,882,840...133,894,818
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00387 NCBI chr11:116,139,979...116,160,745
Ensembl chr11:120,063,743...120,078,386
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00387 NCBI chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00387 NCBI chr 8:121,684,269...121,708,131
Ensembl chr 8:124,435,668...124,459,441
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00387 NCBI chr11:60,473,934...60,478,579
Ensembl chr11:63,812,769...63,816,812
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 1:102,506,234...102,580,183
Ensembl chr 1:101,226,120...101,299,511
JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00557 NCBI chr 3:81,587,604...81,861,214
Ensembl chr 3:83,632,215...83,904,546
JBrowse link
G GCK glucokinase ISO SMPDB SMP:00557 NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751
JBrowse link
G GPI glucose-6-phosphate isomerase ISO SMPDB SMP:00557 NCBI chr19:31,301,469...31,355,362
Ensembl chr19:40,024,584...40,080,598
JBrowse link
G GUSB glucuronidase beta ISO SMPDB SMP:00557 NCBI chr 7:60,087,130...60,109,289
Ensembl chr 7:64,724,841...64,744,909
JBrowse link
G GYS2 glycogen synthase 2 ISO SMPDB SMP:00557 NCBI chr12:64,693,285...64,761,855
Ensembl chr12:67,297,131...67,365,773
JBrowse link
G HK2 hexokinase 2 ISO SMPDB SMP:00557 NCBI chr2A:74,897,914...74,957,234
Ensembl chr2A:76,400,240...76,460,874
JBrowse link
G MGAM maltase-glucoamylase ISO SMPDB SMP:00557 NCBI chr 7:133,929,152...134,028,684 JBrowse link
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00557 NCBI chr 1:62,849,451...62,916,359
Ensembl chr 1:64,658,599...64,725,496
JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 ISO SMPDB SMP:00557 NCBI chr11:69,403,651...69,471,678
Ensembl chr11:72,715,549...72,777,824
JBrowse link
G PYGL glycogen phosphorylase L ISO SMPDB SMP:00557 NCBI chr14:31,494,172...31,533,545
Ensembl chr14:49,746,309...49,832,786
JBrowse link
G SI sucrase-isomaltase ISO SMPDB SMP:00557 NCBI chr 3:161,961,038...162,104,054
Ensembl chr 3:170,057,750...170,154,502
JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00557 NCBI chr 4:33,827,532...33,856,204
Ensembl chr 4:39,681,300...39,708,215
JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00557 NCBI chr2A:63,906,778...63,959,346
Ensembl chr2A:65,043,871...65,084,175
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 chr21:29,361,519...29,385,610 JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00514 NCBI chr 1:69,646,608...69,674,301
Ensembl chr 1:71,629,333...71,677,666
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 chr 7:31,524,933...31,538,602 JBrowse link
G AQP2 aquaporin 2 ISO SMPDB SMP:00723 NCBI chr12:38,796,300...38,804,559
Ensembl chr12:39,690,289...39,698,397
JBrowse link
G AQP3 aquaporin 3 (Gill blood group) ISO SMPDB SMP:00723 NCBI chr 9:33,221,989...33,228,469
Ensembl chr 9:34,032,983...34,039,438
JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00723 NCBI chr 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00723 NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00723 NCBI chr19:38,854,243...38,882,034 JBrowse link
G ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 ISO SMPDB SMP:00723 NCBI chr 1:135,504,929...135,540,651
Ensembl chr 1:139,426,556...139,462,393
JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00723 NCBI chr 1:144,592,667...144,621,052
Ensembl chr 1:148,314,793...148,342,050
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00723 NCBI chr17:7,681,831...7,688,710
Ensembl chr17:7,669,626...7,673,834
JBrowse link
G ATP1B3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00723 NCBI chr 3:138,903,371...138,954,915
Ensembl chr 3:146,500,493...146,550,164
JBrowse link
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00723 NCBI chr  X:109,633,770...109,654,662
Ensembl chr  X:119,820,695...119,841,598
JBrowse link
G CLCNKA chloride voltage-gated channel Ka ISO SMPDB SMP:00723 NCBI chr 1:15,159,362...15,171,376
Ensembl chr 1:16,152,022...16,163,777
JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO SMPDB SMP:00723 NCBI chr 4:140,418,624...140,785,180
Ensembl chr 4:152,108,508...152,430,298
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00723 NCBI chr12:6,475,723...6,506,443 JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00723 NCBI chr16:14,728,834...14,809,072
Ensembl chr16:23,555,388...23,634,873
JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO SMPDB SMP:00723 NCBI chr 1:35,437...46,538
Ensembl chr 1:1,238,512...1,247,649
JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00723 NCBI chr16:14,893,631...14,928,402
Ensembl chr16:23,435,793...23,469,969
JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO SMPDB SMP:00723 NCBI chr15:27,155,331...27,252,995
Ensembl chr15:45,479,583...45,577,084
JBrowse link
G SLC12A3 solute carrier family 12 member 3 ISO SMPDB SMP:00723 NCBI chr16:37,142,797...37,193,713
Ensembl chr16:56,276,049...56,324,528
JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO SMPDB SMP:00723 NCBI chr15:12,741,526...12,846,894
Ensembl chr15:31,576,756...31,680,061
JBrowse link
G SLC14A2 solute carrier family 14 member 2 ISO SMPDB SMP:00723 NCBI chr18:38,766,994...38,966,124
Ensembl chr18:42,448,067...42,506,485
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO SMPDB SMP:00723 NCBI chr 9:4,323,124...4,420,193
Ensembl chr 9:4,511,491...4,608,337
JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO SMPDB SMP:00723 NCBI chr 6:158,058,226...158,150,917
Ensembl chr 6:163,065,317...163,158,931
JBrowse link
G SLC22A6 solute carrier family 22 member 6 ISO SMPDB SMP:00723 NCBI chr11:58,328,476...58,336,887
Ensembl chr11:61,680,016...61,688,223
JBrowse link
G SLC38A4 solute carrier family 38 member 4 ISO SMPDB SMP:00723 NCBI chr12:41,906,527...41,967,859
Ensembl chr12:42,799,172...42,838,283
JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO SMPDB SMP:00723 NCBI chr2A:44,371,328...44,419,611
Ensembl chr2A:45,307,885...45,355,386
JBrowse link
G SLC3A2 solute carrier family 3 member 2 ISO SMPDB SMP:00723 NCBI chr11:58,212,395...58,241,686
Ensembl chr11:61,565,680...61,594,579
JBrowse link
G SLC6A20 solute carrier family 6 member 20 ISO SMPDB SMP:00723 NCBI chr 3:45,663,830...45,703,576
Ensembl chr 3:46,770,067...46,811,158
JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO SMPDB SMP:00723 NCBI chr16:68,512,407...68,552,763 JBrowse link
G SLC7A6 solute carrier family 7 member 6 ISO SMPDB SMP:00723 NCBI chr16:48,641,256...48,675,347
Ensembl chr16:68,038,696...68,072,502
JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO SMPDB SMP:00723 NCBI chr14:3,590,781...3,637,588
Ensembl chr14:21,690,145...21,738,057
JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO SMPDB SMP:00723 NCBI chr14:3,945,123...4,003,574
Ensembl chr14:22,040,787...22,100,112
JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO SMPDB SMP:00723 NCBI chr19:29,753,265...29,793,871
Ensembl chr19:38,499,106...38,538,750
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 chr 6:31,815,586...31,823,526
Ensembl chr 6:32,695,475...32,704,432
JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00529 NCBI chr 7:126,400,861...126,417,756
Ensembl chr 7:138,912,953...138,924,095
JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00529 NCBI chr17:31,384,740...31,395,719
Ensembl chr17:36,531,720...36,542,504
JBrowse link
G DGKA diacylglycerol kinase alpha ISO SMPDB SMP:00529 NCBI chr12:32,958,287...32,981,164
Ensembl chr12:33,207,947...33,701,912
JBrowse link
G GK glycerol kinase ISO SMPDB SMP:00529 NCBI chr  X:23,250,290...23,327,373
Ensembl chr  X:30,806,950...30,877,131
JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00529 NCBI chr 3:52,230,128...52,237,561
Ensembl chr 3:53,458,563...53,466,702
JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00529 NCBI chr10:108,747,370...108,781,270
Ensembl chr10:112,186,744...112,246,549
JBrowse link
G GPD1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00529 NCBI chr12:38,644,466...38,651,924
Ensembl chr12:39,541,550...39,549,040
JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00529 NCBI chr2B:43,694,744...43,845,764
Ensembl chr2B:160,938,514...161,117,320
JBrowse link
G LIPC lipase C, hepatic type ISO SMPDB SMP:00529 NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
JBrowse link
G LPL lipoprotein lipase ISO SMPDB SMP:00529 NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00529 NCBI chr 5:58,495,348...58,605,309
Ensembl chr 5:60,160,274...60,227,806
JBrowse link
desmosterolosis pathway term browser
Symbol Object Name Qualifiers Evidence