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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:methylmalonic acidemia
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Accession:DOID:14749 term browser browse the term
Definition:An organic acidemia that involves an accumulation of methylmalonic acid in the blood. (DO)
Synonyms:exact_synonym: isolated methylmalonic acidemia;   methylmalonic aciduria;   methylmalonicaciduria due to methylmalonic CoA mutase deficiency
 primary_id: MESH:C537358
 xref: GARD:7033;   NCI:C98986
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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:9030548 PMID:21785126 PMID:21841779 PMID:22421630 PMID:25741868 More... NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553 		JBrowse link
G Cavin1 caveolae associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120 		JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 2:173,417,004...173,421,352
Ensembl chr 2:173,416,857...173,421,379 		JBrowse link
G Cycs cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
Ensembl chr18:79,651,378...79,654,054 		JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO ClinVar Annotator: match by term: Isolated Methylmalonic Acidemia | ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:16697227 PMID:16752391 PMID:17823972 PMID:25741868 PMID:25763508 More... NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		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 More... NCBI chr19:28,619,060...28,649,319
Ensembl chr19:28,619,087...28,649,319 		JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:9536098 PMID:12471062 PMID:15523652 PMID:15781192 PMID:16199547 More... NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490 		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 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601 		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:1977311 More... NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Septin11 septin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr14:14,844,759...14,990,856
Ensembl chr14:14,844,580...14,990,853 		JBrowse link
G Septin2 septin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 9:94,018,141...94,051,386
Ensembl chr 9:94,018,208...94,051,386 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 4:128,067,031...128,337,146
Ensembl chr 4:128,067,033...128,337,170 		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: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Hcfc1 host cell factor C1 ISO
ISS		 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
OMIM:309541
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
methylmalonic acidemia cblA type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap10 Rho GTPase activating protein 10 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:30,448,572...30,710,315
Ensembl chr19:30,448,637...30,710,313 		JBrowse link
G C19h4orf51 similar to human chromosome 4 open reading frame 51 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:28,669,044...28,704,512
Ensembl chr19:28,669,059...28,704,508 		JBrowse link
G Ednra endothelin receptor type A ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049 		JBrowse link
G Lsm6 LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:29,098,254...29,112,858
Ensembl chr13:42,114,032...42,116,484
Ensembl chr19:42,114,032...42,116,484 		JBrowse link
G Mmaa metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 More... NCBI chr19:28,619,060...28,649,319
Ensembl chr19:28,619,087...28,649,319 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G Pou4f2 POU class 4 homeobox 2 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:29,486,686...29,490,327
Ensembl chr19:29,486,686...29,490,327 		JBrowse link
G Prmt9 protein arginine methyltransferase 9 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:30,376,342...30,414,491
Ensembl chr19:30,380,124...30,414,458 		JBrowse link
G Slc10a7 solute carrier family 10, member 7 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464 		JBrowse link
G Tmem184c transmembrane protein 184C ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:30,345,183...30,361,275
Ensembl chr19:30,345,290...30,361,269 		JBrowse link
G Ttc29 tetratricopeptide repeat domain 29 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:29,531,707...29,750,635
Ensembl chr19:29,532,663...29,750,615 		JBrowse link
G Zfp827 zinc finger protein 827 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:28,720,568...28,887,381
Ensembl chr19:28,721,021...28,887,191 		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 aciduria, cblB type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12471062 PMID:15044458 PMID:15523652 PMID:15781192 More... NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type ClinVar PMID:15781192 PMID:16199547 PMID:16410054 PMID:20556797 PMID:23707710 More... NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		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
ISS		 ClinVar Annotator: match by term: Methylmalonic acidemia due to transcobalamin receptor defect
OMIM:613646
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34978764 NCBI chr 7:14,626,171...14,631,976
Ensembl chr 7:14,609,146...14,631,976 		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 Abcd4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:22922874 PMID:23141461 PMID:25234635 PMID:25741868 PMID:28492532 More... NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276 		JBrowse link
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr 6:45,103,838...45,179,040
Ensembl chr 6:45,061,553...45,178,046 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase ClinVar PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 PMID:25741868 More... NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO
ISS		 ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
OMIM:277400
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601 		JBrowse link
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:16199547 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 More... NCBI chr 3:34,708,649...34,726,554
Ensembl chr 3:34,708,649...34,726,771 		JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856 		JBrowse link
G Thap11 THAP domain containing 11 ISS OMIM:277400 MouseDO NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2		 OMIM
CTD
ClinVar		 PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 More... NCBI chr 3:34,708,649...34,726,554
Ensembl chr 3:34,708,649...34,726,771 		JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087 		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 Col19a1 collagen type XIX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 9:26,673,916...27,022,139
Ensembl chr 9:26,675,391...27,022,106 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213 		JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19136951 PMID:21303734 More... NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090 		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 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG		 CTD
OMIM
ClinVar		 PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 More... NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276 		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 Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, mut type ClinVar PMID:25085752 PMID:25326637 PMID:25741868 PMID:26467025 PMID:27720647 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ClinVar NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria, mut type ClinVar PMID:11320193 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17853453 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601 		JBrowse link
G Mmut methylmalonyl-CoA mutase treatment ISO
ISS		 ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(-) TYPE | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(0) TYPE | ClinVar Annotator: match by term: Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
OMIM:251000
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:1977311 More... RGD:13208535, RGD:13208534, RGD:11526224 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, mut type ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        inherited metabolic disorder 6214
          amino acid metabolic disorder 1525
            methylmalonic acidemia 50
              Methylmalonic Aciduria and Homocystinuria + 21
              methylmalonic acidemia cblA type 12
              methylmalonic acidemia cblB type 2
              methylmalonic acidemia due to transcobalamin receptor defect 1
              methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 5
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            amino acid metabolic disorder 1525
              organic acidemia 384
                methylmalonic acidemia 50
                  Methylmalonic Aciduria and Homocystinuria + 21
                  methylmalonic acidemia cblA type 12
                  methylmalonic acidemia cblB type 2
                  methylmalonic acidemia due to transcobalamin receptor defect 1
                  methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 5
paths to the root