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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:organic acidemia
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Accession:DOID:0060159 term browser browse the term
Definition:An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. (DO)
Synonyms:exact_synonym: organic acid metabolism disorder;   organic aciduria
 primary_id: RDO:9003113
 xref: GARD:9433
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
3-methylglutaconic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria ClinVar PMID:25741868 NCBI chr 2:120,503,093...120,531,782
Ensembl chr 2:120,504,130...120,531,782
JBrowse link
3-methylglutaconic aciduria type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 1 OMIM
ClinVar
PMID:6181239 PMID:9536098 PMID:10070612 PMID:10626578 PMID:10896289 PMID:12434311 PMID:12655555 PMID:15033206 PMID:16354225 PMID:16640564 PMID:17130438 PMID:17576681 PMID:20855850 PMID:20882351 PMID:21840233 PMID:24598254 PMID:25741868 PMID:28492532 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:258501
OMIM
ClinVar
PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 PMID:18985435 PMID:20350831 PMID:23700088 PMID:24136862 PMID:24749080 PMID:25159689 PMID:25201222 PMID:25205859 PMID:25741868 PMID:26190011 PMID:27528516 PMID:27629047 PMID:28081242 PMID:28492532 NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V
ClinVar Annotator: match by OMIM:610198
OMIM
ClinVar
PMID:16055927 PMID:22797137 PMID:22981120 PMID:25741868 PMID:27928778 PMID:28492532 PMID:29625556 NCBI chr 2:120,503,093...120,531,782
Ensembl chr 2:120,504,130...120,531,782
JBrowse link
3-methylglutaconic aciduria type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIII
ClinVar
OMIM
PMID:25741868 PMID:27208207 PMID:27696117 NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII ClinVar PMID:27208207 NCBI chr 4:113,866,782...113,883,713
Ensembl chr 4:113,866,804...113,883,477
JBrowse link
3-methylglutaconic aciduria type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 9
ClinVar
OMIM
PMID:25741868 PMID:30190335 PMID:32369862 NCBI chr 1:85,470,810...85,480,813
Ensembl chr 1:85,470,831...85,480,407
JBrowse link
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb caseinolytic mitochondrial matrix peptidase chaperone subunit B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597510 PMID:25597511 PMID:25650066 PMID:25741868 PMID:26916670 PMID:27290639 PMID:28492532 PMID:28554332 PMID:28687938 PMID:32313153 NCBI chr 1:166,739,372...166,866,095
Ensembl chr 1:166,739,532...166,866,107
JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
ClinVar Annotator: match by OMIM:614739
OMIM
ClinVar
PMID:16527507 PMID:22683713 PMID:23707711 PMID:24033266 PMID:24997715 PMID:25016221 PMID:25741868 PMID:28482397 PMID:28492532 PMID:28778788 PMID:28916646 PMID:32313153 NCBI chr 1:46,934,499...46,978,264
Ensembl chr 1:46,942,192...46,978,261
JBrowse link
Barth syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Barth syndrome
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar PMID:11238270 PMID:15793838 PMID:19396829 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066
JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISS OMIM:302060 MouseDO NCBI chr 3:147,042,944...147,062,725
Ensembl chr 3:147,042,944...147,062,724
JBrowse link
G Mest mesoderm specific transcript ISS OMIM:302060 MouseDO NCBI chr 4:58,052,786...58,063,227
Ensembl chr 4:58,053,041...58,063,138
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria
ClinVar Annotator: match by term: Barth syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:302060
OMIM
ClinVar
CTD
PMID:1719174 PMID:1998334 PMID:4685904 PMID:7616547 PMID:8042670 PMID:8434619 PMID:8630491 PMID:9332651 PMID:9345098 PMID:9382096 PMID:9382097 PMID:9536098 PMID:11238270 PMID:11735032 PMID:12032589 PMID:12468278 PMID:12930833 PMID:15098233 PMID:15793838 PMID:16427346 PMID:16548007 PMID:16873891 PMID:16880272 PMID:17394203 PMID:17576681 PMID:18430085 PMID:19396829 PMID:19438153 PMID:19619503 PMID:19648820 PMID:19700766 PMID:20530761 PMID:20812380 PMID:21300850 PMID:22382802 PMID:23361305 PMID:23409742 PMID:23656970 PMID:24033266 PMID:24342716 PMID:24887148 PMID:25185984 PMID:25741868 PMID:25941633 PMID:26350513 PMID:26724946 PMID:26845103 PMID:28123175 PMID:28183324 PMID:28492532 PMID:29077208 PMID:29089047 PMID:29247119 PMID:31333075 PMID:31568572 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
combined malonic and methylmalonic acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Combined malonic and methylmalonic aciduria
ClinVar Annotator: match by OMIM:614265
OMIM
ClinVar
PMID:21785126 PMID:21841779 PMID:24033266 PMID:25741868 PMID:26827111 PMID:26915364 PMID:28492532 PMID:29555771 PMID:29858964 PMID:30041674 PMID:30740739 PMID:31376476 PMID:33223529 NCBI chr19:55,594,801...55,635,312
Ensembl chr19:55,594,831...55,635,122
JBrowse link
Congenital Infantile Lactic Acidosis due to LAD Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Maple syrup urine disease, type 3
ClinVar Annotator: match by term: LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO
ClinVar Annotator: match by OMIM:246900
OMIM
ClinVar
PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 PMID:8652022 PMID:8968745 PMID:9298831 PMID:9540846 PMID:9934985 PMID:10448086 PMID:11687750 PMID:12925875 PMID:14765544 PMID:15712224 PMID:15946682 PMID:16442803 PMID:16601893 PMID:16770810 PMID:17404228 PMID:18362926 PMID:20652410 PMID:20672374 PMID:21558426 PMID:21930696 PMID:23290025 PMID:23478190 PMID:23995961 PMID:24012808 PMID:24516753 PMID:25251739 PMID:25356417 PMID:25741868 PMID:27144126 PMID:27290639 PMID:27544700 PMID:27896107 PMID:28492532 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
glutaric acidemia I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO RGD PMID:15840571 RGD:10047115 NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1
ClinVar Annotator: match by term: Glutaric acidemia type I
ClinVar Annotator: match by term: Glutaryl-CoA dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:231670
OMIM
ClinVar
CTD
PMID:1951469 PMID:7795610 PMID:8541831 PMID:8900227 PMID:8900228 PMID:9266361 PMID:9600243 PMID:9711871 PMID:9856558 PMID:9881681 PMID:10066389 PMID:10384381 PMID:10649503 PMID:10699052 PMID:10759157 PMID:10960496 PMID:11015709 PMID:11024031 PMID:11058907 PMID:11073722 PMID:11174631 PMID:11508549 PMID:11825066 PMID:11854167 PMID:12199454 PMID:12210585 PMID:12473778 PMID:12872844 PMID:12948740 PMID:14691600 PMID:15318278 PMID:15505393 PMID:15505400 PMID:15573311 PMID:15954035 PMID:16183314 PMID:16377226 PMID:16466958 PMID:16488172 PMID:16602100 PMID:16641220 PMID:17188916 PMID:17478444 PMID:17622945 PMID:17642054 PMID:17661081 PMID:18285246 PMID:18411069 PMID:18459892 PMID:18683078 PMID:18775954 PMID:18926513 PMID:19167251 PMID:19433275 PMID:19433437 PMID:19630565 PMID:20084589 PMID:20514322 PMID:20629163 PMID:20732827 PMID:20836999 PMID:20960650 PMID:20978942 PMID:21031586 PMID:21176883 PMID:21228398 PMID:21811973 PMID:21912879 PMID:22106832 PMID:22231382 PMID:22728054 PMID:23104440 PMID:23225040 PMID:23395213 PMID:23884036 PMID:24332224 PMID:24795062 PMID:24973495 PMID:25087612 PMID:25190159 PMID:25204480 PMID:25255367 PMID:25256449 PMID:25590979 PMID:25741868 PMID:25762492 PMID:25863083 PMID:26071121 PMID:26316201 PMID:26589311 PMID:26593172 PMID:26633542 PMID:26656312 PMID:27243974 PMID:27351573 PMID:27397597 PMID:27476540 PMID:27629047 PMID:27672653 PMID:27896087 PMID:28062662 PMID:28143689 PMID:28302372 PMID:28352331 PMID:28389991 PMID:28411331 PMID:28438223 PMID:28492532 PMID:28781846 PMID:28794906 PMID:29086383 PMID:29201125 PMID:29292490 PMID:29419857 PMID:29665094 PMID:30217722 PMID:30298489 PMID:30512148 PMID:30570710 PMID:31319225 PMID:31536184, PMID:28545977 RGD:13515124 NCBI chr19:26,000,497...26,006,970
Ensembl chr19:26,000,497...26,006,970
JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by synonym: Glutaryl-CoA dehydrogenase deficiency
ClinVar Annotator: match by term: Glutaric aciduria, type 1
ClinVar Annotator: match by term: Glutaryl-CoA dehydrogenase deficiency
ClinVar PMID:1951469 PMID:8900227 PMID:8900228 PMID:9600243 PMID:9711871 PMID:10699052 PMID:10960496 PMID:11058907 PMID:11073722 PMID:12210585 PMID:12948740 PMID:15318278 PMID:15505393 PMID:17478444 PMID:18683078 PMID:18926513 PMID:19630565 PMID:21031586 PMID:21176883 PMID:22728054 PMID:24973495 PMID:25256449 PMID:25741868 PMID:27672653 PMID:28302372 PMID:28438223 PMID:28492532 PMID:31536184 NCBI chr19:25,982,003...26,002,399
Ensembl chr19:25,983,169...26,001,317
JBrowse link
isovaleric acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ivd isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency
ClinVar Annotator: match by term: Isovaleric acidemia, type II
ClinVar Annotator: match by OMIM:243500
ClinVar Annotator: match by term: ISOVALERIC ACIDEMIA, TYPE I
OMIM
ClinVar
PMID:1310317 PMID:2063866 PMID:2318964 PMID:9536098 PMID:9665741 PMID:10677295 PMID:10713113 PMID:15337167 PMID:15486829 PMID:16602101 PMID:16825284 PMID:17027310 PMID:17576084 PMID:17576681 PMID:19099814 PMID:20519759 PMID:22004070 PMID:22350545 PMID:22960500 PMID:23587913 PMID:24059531 PMID:24516753 PMID:24637313 PMID:25220015 PMID:25533962 PMID:25741868 PMID:26018748 PMID:26589311 PMID:26937393 PMID:27629047 PMID:27904153 PMID:28492532 PMID:28535199 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173
JBrowse link
maple syrup urine disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcat2 branched chain amino acid transaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14755340, PMID:14755340 RGD:1300291 NCBI chr 1:101,553,900...101,572,103
Ensembl chr 1:101,554,642...101,572,080
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar Annotator: match by OMIM:248600
ClinVar
OMIM
PMID:1356170 PMID:1682165 PMID:1867199 PMID:1885764 PMID:1943689 PMID:2241958 PMID:2703538 PMID:7883996 PMID:8037208 PMID:8161368 PMID:9582350 PMID:10694918 PMID:10745006 PMID:11069910 PMID:11448970 PMID:11507102 PMID:11825067 PMID:12888983 PMID:14517957 PMID:14567968 PMID:16468966 PMID:16786533 PMID:17922217 PMID:18378174 PMID:19456321 PMID:19480318 PMID:19715473 PMID:20136525 PMID:20431954 PMID:20852892 PMID:21098507 PMID:21228398 PMID:21844576 PMID:22593002 PMID:22727569 PMID:23765052 PMID:24033266 PMID:24374108 PMID:24772966 PMID:25087612 PMID:25255367 PMID:25333063 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26786177 PMID:26830710 PMID:26901124 PMID:26937410 PMID:27403441 PMID:28170084 PMID:28417071 PMID:28492532 PMID:29306928 PMID:29740775, PMID:8037208, PMID:1943689 RGD:737779, RGD:734637 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO DNA:deletion mutation:exon 1;
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar Annotator: match by OMIM:248600
ClinVar
OMIM
PMID:8161368 PMID:8312380 PMID:8430702 PMID:9375800 PMID:11112664 PMID:11448970 PMID:11509994 PMID:14517957 PMID:14567968 PMID:14742428 PMID:15884622 PMID:16468966 PMID:16786533 PMID:17922217 PMID:18378174 PMID:19282776 PMID:19480318 PMID:20307994 PMID:21484869 PMID:22326532 PMID:22350544 PMID:22593002 PMID:22727569 PMID:24374108 PMID:24770567 PMID:24772966 PMID:24995870 PMID:25255367 PMID:25333063 PMID:25381949 PMID:25525159 PMID:25640679 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26453840 PMID:26786177 PMID:26830710 PMID:27507644 PMID:27682710 PMID:28197878 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:29740775 PMID:30228974 PMID:30298499 PMID:31112740, PMID:2022752 RGD:1599466 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar Annotator: match by OMIM:248600
OMIM
ClinVar
PMID:1547285 PMID:1847055 PMID:8430702 PMID:9239422 PMID:9621512 PMID:11112664 PMID:14517957 PMID:16468966 PMID:16786533 PMID:18378174 PMID:19480318 PMID:20307994 PMID:20570198 PMID:20639189 PMID:21098507 PMID:22090376 PMID:23313820 PMID:24033266 PMID:24394677 PMID:24772966 PMID:25255367 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26589311 PMID:27243974 PMID:27518768 PMID:28417071 PMID:28492532 PMID:30228974 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO
ISS
ClinVar Annotator: match by term: Maple syrup urine disease
OMIM:246900 | OMIM:248600 | OMIM:615135
ClinVar
MouseDO
NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079
JBrowse link
G Ppm1k protein phosphatase, Mg2+/Mn2+ dependent, 1K ISO ClinVar Annotator: match by term: Maple syrup urine disease, mild variant ClinVar
OMIM
PMID:23086801 PMID:28492532 NCBI chr 4:88,694,395...88,721,374
Ensembl chr 4:88,694,583...88,718,533
JBrowse link
Maple Syrup Urine Disease, Type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Maple syrup urine disease type 1A ClinVar PMID:1356170 PMID:1682165 PMID:1867199 PMID:1885764 PMID:1943689 PMID:2241958 PMID:2703538 PMID:7883996 PMID:8037208 PMID:9582350 PMID:10694918 PMID:11507102 PMID:11825067 PMID:12888983 PMID:14517957 PMID:14567968 PMID:14742428 PMID:16468966 PMID:16786533 PMID:17922217 PMID:18378174 PMID:19456321 PMID:19480318 PMID:20136525 PMID:20431954 PMID:21098507 PMID:21228398 PMID:22593002 PMID:22727569 PMID:23765052 PMID:24374108 PMID:25333063 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26830710 PMID:26901124 PMID:27403441 PMID:28170084 PMID:28417071 PMID:28492532 PMID:29306928 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
Maple Syrup Urine Disease, Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB
ClinVar Annotator: match by term: Maple syrup urine disease type 1B
ClinVar PMID:8430702 PMID:9375800 PMID:11112664 PMID:11448970 PMID:11509994 PMID:14517957 PMID:14567968 PMID:14742428 PMID:15884622 PMID:16786533 PMID:17922217 PMID:18378174 PMID:19282776 PMID:19480318 PMID:20307994 PMID:21484869 PMID:22593002 PMID:22727569 PMID:24374108 PMID:24772966 PMID:25255367 PMID:25333063 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:28417071 PMID:28492532 PMID:28830848 PMID:30228974 PMID:31112740 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
Maple Syrup Urine Disease, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dbt dihydrolipoamide branched chain transacylase E2 ISO ClinVar Annotator: match by term: Maple syrup urine disease type 2
ClinVar Annotator: match by term: Maple syrup urine disease, thiamine-responsive, type II
ClinVar Annotator: match by term: Intermediate maple syrup urine disease type 2
ClinVar PMID:1847055 PMID:1943690 PMID:1990841 PMID:2010537 PMID:8430702 PMID:9239422 PMID:9621512 PMID:14508502 PMID:14517957 PMID:14742428 PMID:16468966 PMID:16786533 PMID:18378174 PMID:20639189 PMID:24772966 PMID:25741868 PMID:26257134 PMID:28417071 PMID:28492532 PMID:31319225 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link
methylmalonic acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylmalonic acidemia
CTD
ClinVar
PMID:21785126 PMID:21841779 PMID:25741868 PMID:26915364 PMID:28492532 PMID:29858964 PMID:30041674 PMID:30740739 PMID:31376476 NCBI chr19:55,594,801...55,635,312
Ensembl chr19:55,594,831...55,635,122
JBrowse link
G Cavin1 caveolae associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr10:88,862,513...88,874,495
Ensembl chr10:88,860,733...88,874,528
JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 2:187,322,416...187,326,794
Ensembl chr 2:184,882,969...184,883,505
JBrowse link
G Cycs cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 3:43,223,892...43,359,069
Ensembl chr 3:43,255,567...43,359,074
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
JBrowse link
G Mmaa metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Methylmalonic acidemia
ClinVar Annotator: match by term: Isolated Methylmalonic Acidemia
ClinVar PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 PMID:16247646 PMID:17957493 PMID:20549364 PMID:21048060 PMID:21114891 PMID:21545677 PMID:22614770 PMID:23026888 PMID:23711287 PMID:24033266 PMID:24059531 PMID:24095221 PMID:25525159 PMID:25636100 PMID:25741868 PMID:25748407 PMID:26270765 PMID:26370686 PMID:27591164 PMID:28492532 PMID:28497574 NCBI chr19:32,294,087...32,325,927
Ensembl chr19:32,308,236...32,325,927
JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:12471062 PMID:15523652 PMID:15781192 PMID:16311595 PMID:16410054 PMID:16439175 PMID:17410422 PMID:17957493 PMID:19625202 PMID:20301409 PMID:20556797 PMID:20696242 PMID:21048060 PMID:21604717 PMID:22614770 PMID:22695176 PMID:23707710 PMID:24033266 PMID:24059531 PMID:24516753 PMID:24813872 PMID:25525159 PMID:25741868 PMID:26589311 PMID:28492532 PMID:30022420 NCBI chr12:47,920,712...47,935,438
Ensembl chr12:47,920,743...47,935,525
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria ClinVar PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 PMID:19370762 PMID:19700356 PMID:25398587 PMID:25672861 PMID:25689098 PMID:25741868 PMID:26825575 PMID:26990548 PMID:28492532 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylmalonic acidemia
CTD
ClinVar
PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:2661559 PMID:7912889 PMID:8880917 PMID:9285782 PMID:9929975 PMID:10923046 PMID:11350191 PMID:11528502 PMID:12402345 PMID:15643616 PMID:15781192 PMID:15781199 PMID:16281286 PMID:16435223 PMID:16490061 PMID:16823967 PMID:17075691 PMID:17113806 PMID:17410422 PMID:17445044 PMID:17470278 PMID:17957493 PMID:19088183 PMID:19375370 PMID:20549364 PMID:20603089 PMID:21048060 PMID:21114891 PMID:22614770 PMID:22727635 PMID:23024777 PMID:23045948 PMID:23430940 PMID:23479330 PMID:23729607 PMID:24033266 PMID:24059531 PMID:24464670 PMID:25125334 PMID:25299208 PMID:25525159 PMID:25689098 PMID:25741868 PMID:25750861 PMID:25771389 PMID:26270765 PMID:26420839 PMID:26454439 PMID:26615597 PMID:26790480 PMID:27167370 PMID:27233228 PMID:27489777 PMID:27578510 PMID:27591164 PMID:27751223 PMID:28492532 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Septin11 septin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr14:16,369,544...16,405,645
Ensembl chr14:16,369,544...16,452,998
JBrowse link
G Septin2 septin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 9:100,624,876...100,658,053
Ensembl chr 9:100,624,876...100,658,050
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 4:127,552,100...127,824,970
Ensembl chr 4:127,552,101...127,824,970
JBrowse link
methylmalonic acidemia and homocysteinemia cblX type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: Mental retardation 3, X-linked ClinVar PMID:25741868 NCBI chr19:37,813,284...37,819,782
Ensembl chr19:37,812,751...37,819,789
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Mental retardation 3, X-linked
ClinVar Annotator: match by OMIM:309541
OMIM
ClinVar
PMID:1870093 PMID:9536098 PMID:17576681 PMID:23000143 PMID:24011988 PMID:25167861 PMID:25281006 PMID:25326637 PMID:25740848 PMID:25741868 PMID:26893841 PMID:27403441 PMID:28166811 PMID:28492532 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: Mental retardation 3, X-linked ClinVar PMID:25741868 NCBI chr19:37,825,576...37,827,393
Ensembl chr19:37,825,576...37,827,393
JBrowse link
methylmalonic acidemia cblA type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY ClinVar PMID:25326637 PMID:25741868 PMID:26686600 PMID:28492532 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mmaa metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Methylmalonic acidemia cblA type
ClinVar Annotator: match by term: Methylmalonic aciduria cblA type
OMIM
ClinVar
PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 PMID:16247646 PMID:17957493 PMID:20549364 PMID:21048060 PMID:21114891 PMID:21545677 PMID:22614770 PMID:23026888 PMID:23711287 PMID:23716945 PMID:24033266 PMID:24059531 PMID:24095221 PMID:25525159 PMID:25636100 PMID:25741868 PMID:25748407 PMID:26270765 PMID:26370686 PMID:27591164 PMID:27858373 PMID:28492532 PMID:28497574 NCBI chr19:32,294,087...32,325,927
Ensembl chr19:32,308,236...32,325,927
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic acidemia cblA type
ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
ClinVar PMID:11320193 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17853453 PMID:18164228 PMID:19370762 PMID:19700356 PMID:19760748 PMID:20219402 PMID:20631720 PMID:21055272 PMID:22560872 PMID:23825108 PMID:24577983 PMID:25511120 PMID:25687216 PMID:25741868 PMID:25809485 PMID:26149271 PMID:26283149 PMID:26563984 PMID:28218226 PMID:28492532 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
methylmalonic acidemia cblB type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Methylmalonic acidemia cblB type
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE
ClinVar Annotator: match by term: Methylmalonic aciduria cblB type
OMIM
ClinVar
PMID:12471062 PMID:15044458 PMID:15523652 PMID:15781192 PMID:16311595 PMID:16410054 PMID:16439175 PMID:17176040 PMID:17410422 PMID:17948227 PMID:17957493 PMID:18251506 PMID:18452306 PMID:19625202 PMID:20301409 PMID:20549364 PMID:20556797 PMID:20696242 PMID:21048060 PMID:21604717 PMID:22614770 PMID:22695176 PMID:23674520 PMID:23707710 PMID:24033266 PMID:24059531 PMID:24516753 PMID:24813872 PMID:25525159 PMID:25741868 PMID:25760844 PMID:26589311 PMID:27591164 PMID:28492532 PMID:29039164 PMID:29197662 PMID:30022420 NCBI chr12:47,920,712...47,935,438
Ensembl chr12:47,920,743...47,935,525
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Methylmalonic aciduria cblB type
ClinVar Annotator: match by term: Methylmalonic acidemia cblB type
ClinVar PMID:16410054 PMID:23707710 PMID:24033266 PMID:25741868 PMID:27591164 PMID:28492532 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
methylmalonic acidemia due to transcobalamin receptor defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd320 CD320 molecule ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to transcobalamin receptor defect OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 7:18,700,445...18,706,244
Ensembl chr 7:18,700,344...18,706,244
JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:25741868 NCBI chr 6:47,737,814...47,812,219
Ensembl chr 6:47,774,060...47,848,075
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:11889412 PMID:20360539 PMID:22905681 PMID:23219219 PMID:23806086 PMID:23935525 PMID:24015197 PMID:24033266 PMID:24088041 PMID:24582695 PMID:25382311 PMID:25687216 PMID:25741868 PMID:26866599 PMID:26990548 PMID:27657681 PMID:28340804 PMID:28492532 PMID:28646478 PMID:29132836 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 PMID:27403441 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type
ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
ClinVar Annotator: match by OMIM:277400
OMIM
ClinVar
CTD
PMID:11261516 PMID:11320193 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17768669 PMID:17853453 PMID:18164228 PMID:18245139 PMID:19370762 PMID:19700356 PMID:19760748 PMID:19767224 PMID:19836982 PMID:19914430 PMID:20219402 PMID:20549364 PMID:20610126 PMID:20631720 PMID:20652818 PMID:20924684 PMID:21055272 PMID:21114891 PMID:21228398 PMID:21835369 PMID:22447314 PMID:22560872 PMID:22642810 PMID:23580368 PMID:23757202 PMID:23825108 PMID:23837176 PMID:23954310 PMID:24033266 PMID:24126030 PMID:24210589 PMID:24577983 PMID:24599607 PMID:25388550 PMID:25398587 PMID:25511120 PMID:25668207 PMID:25672861 PMID:25687216 PMID:25689098 PMID:25741868 PMID:25772322 PMID:25809485 PMID:25894566 PMID:26149271 PMID:26270766 PMID:26283149 PMID:26287336 PMID:26412180 PMID:26563984 PMID:26658511 PMID:26825575 PMID:26979128 PMID:26990548 PMID:27252276 PMID:27383490 PMID:27751223 PMID:28151490 PMID:28218226 PMID:28327205 PMID:28454995 PMID:28492532 PMID:28693988 PMID:29042959 PMID:29294253 PMID:29379858 PMID:29396438 PMID:30157807 PMID:32164588 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar NCBI chr 3:35,783,511...35,801,474
Ensembl chr 3:35,783,623...35,801,614
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
ClinVar
OMIM
PMID:25741868 PMID:29396438 NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990
JBrowse link
methylmalonic aciduria and homocystinuria type cblD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD
ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA, cblH TYPE
ClinVar Annotator: match by OMIM:277410
ClinVar Annotator: match by synonym: Methylmalonic aciduria, cblD type, variant 2
OMIM
ClinVar
PMID:5524089 PMID:9536098 PMID:15292234 PMID:17576681 PMID:18385497 PMID:19058814 PMID:22156578 PMID:24033266 PMID:25741868 PMID:27252276 PMID:28492532 PMID:28939051 PMID:29620684 NCBI chr 3:35,783,511...35,801,474
Ensembl chr 3:35,783,623...35,801,614
JBrowse link
methylmalonic aciduria and homocystinuria type cblF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
OMIM
ClinVar
CTD
PMID:19136951 PMID:21303734 PMID:22922874 PMID:23776111 PMID:24664876 PMID:25047945 PMID:25741868 PMID:26997947 PMID:28492532 NCBI chr 9:30,939,555...31,038,381
Ensembl chr 9:30,939,555...31,038,379
JBrowse link
methylmalonic aciduria and homocystinuria type cblG term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
ClinVar Annotator: match by term: METHYLCOBALAMIN DEFICIENCY, cblG TYPE
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:250940
OMIM
ClinVar
PMID:8968736 PMID:8968737 PMID:9235907 PMID:9536098 PMID:9683607 PMID:12068375 PMID:17576681 PMID:20890936 PMID:21615938 PMID:22887477 PMID:25526710 PMID:25558065 PMID:25741868 PMID:25856670 PMID:26198278 PMID:28210839 PMID:28492532 PMID:28666289 PMID:32581362 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
ClinVar Annotator: match by OMIM:614857
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22922874 PMID:25741868 PMID:28492532 NCBI chr 6:108,315,026...108,329,550
Ensembl chr 6:108,315,035...108,329,464
JBrowse link
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ClinVar NCBI chr19:26,196,797...26,216,981
Ensembl chr19:26,196,837...26,216,267
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY ClinVar PMID:25326637 PMID:25741868 PMID:26686600 PMID:28492532 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ClinVar PMID:11320193 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17853453 PMID:18164228 PMID:19370762 PMID:19700356 PMID:19760748 PMID:20219402 PMID:20631720 PMID:21055272 PMID:22560872 PMID:23825108 PMID:24577983 PMID:25511120 PMID:25687216 PMID:25741868 PMID:25809485 PMID:26149271 PMID:26283149 PMID:26563984 PMID:28218226 PMID:28492532 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Mmut methylmalonyl-CoA mutase treatment ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(-) TYPE
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(0) TYPE
DNA:mutations:multiple:
ClinVar Annotator: match by OMIM:251000
OMIM
ClinVar
PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:1977311 PMID:2453061 PMID:2661559 PMID:2881300 PMID:7602808 PMID:7627195 PMID:7909321 PMID:7912889 PMID:7951229 PMID:8880917 PMID:9285782 PMID:9554742 PMID:9929975 PMID:10923046 PMID:11350191 PMID:11528502 PMID:12402345 PMID:15643616 PMID:15781192 PMID:15781199 PMID:16281286 PMID:16435223 PMID:16451139 PMID:16490061 PMID:17075691 PMID:17113806 PMID:17410422 PMID:17432548 PMID:17445044 PMID:17470278 PMID:17823972 PMID:17948227 PMID:17957493 PMID:17966092 PMID:19088183 PMID:19375370 PMID:19862841 PMID:19955418 PMID:20301409 PMID:20549364 PMID:20603089 PMID:21048060 PMID:21114891 PMID:21671183 PMID:22614770 PMID:22695176 PMID:22727635 PMID:23024777 PMID:23045948 PMID:23430940 PMID:23479330 PMID:23729607 PMID:24033266 PMID:24059531 PMID:24330302 PMID:24464670 PMID:24865477 PMID:25073507 PMID:25125334 PMID:25299208 PMID:25525159 PMID:25689098 PMID:25736335 PMID:25741868 PMID:25750861 PMID:25771389 PMID:25959030 PMID:26174677 PMID:26270765 PMID:26420839 PMID:26449400 PMID:26454439 PMID:26483233 PMID:26615597 PMID:26790480 PMID:27060300 PMID:27167370 PMID:27233228 PMID:27489777 PMID:27578510 PMID:27591164 PMID:27602322 PMID:27751223 PMID:27884173 PMID:28101778 PMID:28492532 PMID:28811685 PMID:30022420, PMID:19861951, PMID:17937813, PMID:27167370 RGD:13208535, RGD:13208534, RGD:11526224 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ClinVar PMID:25741868 NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link
Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION, ISOLATED, X-LINKED ClinVar PMID:19438153 PMID:19700766 PMID:20530761 PMID:24033266 PMID:24342716 PMID:25741868 PMID:25941633 PMID:28492532 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
propionic acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Propionic acidemia
ClinVar Annotator: match by term: Propionyl-CoA carboxylase deficiency
ClinVar PMID:19157943 PMID:22033733 PMID:28492532 NCBI chr15:109,307,683...109,336,779
Ensembl chr15:109,307,904...109,316,953
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Propionic acidemia
ClinVar Annotator: match by term: Propionyl-CoA carboxylase deficiency
ClinVar Annotator: match by term: Propionicacidemia
ClinVar Annotator: match by OMIM:606054
OMIM
ClinVar
PMID:2037281 PMID:6790853 PMID:7915138 PMID:8083196 PMID:9385377 PMID:9887338 PMID:10101253 PMID:10329019 PMID:10518292 PMID:10780784 PMID:11592820 PMID:12385775 PMID:12559849 PMID:15059621 PMID:15235904 PMID:15464417 PMID:16023992 PMID:17051315 PMID:18414145 PMID:19099776 PMID:19157943 PMID:20493181 PMID:20549364 PMID:20725044 PMID:21094621 PMID:22033733 PMID:22156789 PMID:22334403 PMID:23053474 PMID:23348723 PMID:23430860 PMID:23757202 PMID:24033266 PMID:24059531 PMID:24464666 PMID:24863100 PMID:25047749 PMID:25741868 PMID:26740382 PMID:27227689 PMID:27489777 PMID:27825584 PMID:27900673 PMID:28492532 PMID:28712602 PMID:29033250 PMID:29978829 PMID:30159853 PMID:30274917 PMID:30705822 PMID:31319225 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Propionic acidemia
ClinVar Annotator: match by term: Propionyl-CoA carboxylase deficiency
ClinVar Annotator: match by OMIM:606054
OMIM
ClinVar
PMID:2154743 PMID:8023851 PMID:8225321 PMID:8295402 PMID:8411997 PMID:9452096 PMID:9536098 PMID:9683601 PMID:10447268 PMID:10502773 PMID:10780784 PMID:10820128 PMID:11136555 PMID:11749052 PMID:12007220 PMID:12189489 PMID:12409268 PMID:12559849 PMID:12757933 PMID:12888983 PMID:15059621 PMID:15464417 PMID:15890657 PMID:15949719 PMID:17051315 PMID:17415538 PMID:17576681 PMID:17966092 PMID:19099776 PMID:19238581 PMID:20549364 PMID:20725044 PMID:22033733 PMID:22334403 PMID:23053474 PMID:23430860 PMID:24033266 PMID:24059531 PMID:24516753 PMID:24863100 PMID:24916042 PMID:25047749 PMID:25087612 PMID:25636094 PMID:25741868 PMID:25851414 PMID:25865301 PMID:26830710 PMID:27227689 PMID:27243974 PMID:27578510 PMID:27776753 PMID:27900673 PMID:28492532 PMID:28649556 PMID:28853722 PMID:29033250 PMID:29679984 PMID:30013935 PMID:30274917 PMID:32778825 PMID:32860008 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
G Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 ISO ClinVar Annotator: match by term: Propionicacidemia ClinVar PMID:31883641 NCBI chr17:35,677,984...35,682,262
Ensembl chr17:35,677,984...35,682,259
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2355
          amino acid metabolic disorder 448
            organic acidemia 56
              3-methylglutaconic aciduria + 12
              combined malonic and methylmalonic acidemia 1
              glutaric acidemia I 3
              isovaleric acidemia 1
              maple syrup urine disease + 7
              methylmalonic acidemia + 29
              propionic acidemia + 4
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            amino acid metabolic disorder 448
              organic acidemia 56
                3-methylglutaconic aciduria + 12
                combined malonic and methylmalonic acidemia 1
                glutaric acidemia I 3
                isovaleric acidemia 1
                maple syrup urine disease + 7
                methylmalonic acidemia + 29
                propionic acidemia + 4
paths to the root