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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:10070612, PMID:10626578, PMID:10896289, PMID:12434311, PMID:12655555, PMID:15033206, PMID:16354225, PMID:16640564, PMID:17130438, 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, PMID:30311386 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: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:27573165 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: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 Taz tafazzin 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:11238270, PMID:11735032, PMID:12032589, PMID:12468278, PMID:12930833, PMID:15098233, PMID:15793838, PMID:16385454, PMID:16427346, PMID:16548007, PMID:16873891, PMID:16880272, PMID:17394203, 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 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:9764998, PMID:9934985, PMID:10448086, PMID:11687750, PMID:12925875, PMID:14765544, PMID:15712224, 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:24516753, PMID:25251739, PMID:25356417, PMID:25741868, 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: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:9665741, PMID:10677295, PMID:10713113, PMID:15337167, PMID:15486829, PMID:16602101, PMID:16825284, PMID:17027310, PMID:17576084, 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:30311386 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:30311386, 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: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: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: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:22727569, PMID:23765052, PMID:24374108, PMID:25333063, PMID:25741868, PMID:26232051, PMID:26257134, PMID:26830710, PMID:27403441, PMID:28170084, PMID:28417071, PMID:28492532, PMID:29306928, PMID:30311386 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: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 CTD PMID:21841779 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 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:25748407, PMID:26270765, PMID:26370686, PMID:27591164, PMID:28492532, PMID:28497574, PMID:30311386 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 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, PMID:30311386 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:23000143, PMID:24011988, PMID:25167861, PMID:25281006, PMID:25740848, PMID:25741868, PMID:26893841, PMID:27403441, 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 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, PMID:30311386 NCBI chr19:32,294,087...32,325,927
Ensembl chr19:32,308,236...32,325,927
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:23707710, PMID:24033266, PMID:25741868, 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 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 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:19914430, PMID:20219402, PMID:20549364, PMID:20610126, PMID:20631720, PMID:20652818, PMID:20924684, PMID:21055272, PMID:21114891, PMID:21228398, PMID:21748409, 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: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 Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC ClinVar
OMIM
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:15292234, 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:9683607, PMID:12068375, 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: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 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:21748409, PMID:22560872, PMID:23825108, PMID:24577983, PMID:25398587, PMID:25511120, PMID:25687216, PMID:25741868, PMID:25809485, PMID:26149271, PMID:26283149, PMID:26563984, PMID:26658511, 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: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: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:28101778, PMID:28492532, PMID:28811685, PMID:30022420, PMID:30311386, 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 Taz tafazzin 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: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: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:30311386, 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 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          amino acid metabolic disorder 433
            organic acidemia 54
              3-methylglutaconic aciduria + 12
              combined malonic and methylmalonic acidemia 1
              glutaric acidemia I 3
              isovaleric acidemia 1
              maple syrup urine disease + 7
              methylmalonic acidemia + 27
              propionic acidemia + 4
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            amino acid metabolic disorder 433
              organic acidemia 54
                3-methylglutaconic aciduria + 12
                combined malonic and methylmalonic acidemia 1
                glutaric acidemia I 3
                isovaleric acidemia 1
                maple syrup urine disease + 7
                methylmalonic acidemia + 27
                propionic acidemia + 4
paths to the root

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