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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 aciduria and homocystinuria type cblC
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Accession:DOID:0050715 term browser browse the term
Definition:A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. (DO)
Synonyms:exact_synonym: Cobalamin C deficiency;   MAHCC;   cobalamin-C methylmalonic acidemia and homocystinuria;   methylmalonic acidemia and homocystinuria, cblC type;   methylmalonic aciduria and homocystinuria, vitamin B12-responsive;   methylmalonic aciduria with homocystinuria, cblC type;   vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase
 narrow_synonym: methylmalonic Acidemia with Homocystinuria;   methylmalonic acidemia and homocystinemia;   methylmalonic aciduria with homocystinuria, cblC type, digenic
 primary_id: MESH:C537359
 alt_id: OMIM:277400
 xref: NCI:C142174

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show annotations for term's descendants           Sort by:
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N 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 chrNW_004624734:27,309,280...27,324,658
Ensembl chrNW_004624734:27,309,184...27,327,200 		JBrowse link
G 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 chr24:51,497,440...51,516,919
Ensembl chr24:51,495,790...51,516,905 		JBrowse link
G P 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 7:97,568,193...97,585,693
Ensembl chr 7:97,567,712...97,585,679 		JBrowse link
G S 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 chrNW_004936488:3,526,875...3,538,851
Ensembl chrNW_004936488:3,523,344...3,538,858 		JBrowse link
G D 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 8:47,488,414...47,507,041
Ensembl chr 8:47,488,475...47,504,654 		JBrowse link
G B 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 chr14:54,833,388...54,850,482
Ensembl chr14:73,684,109...73,701,344 		JBrowse link
G C 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 chrNW_004955523:1,170,306...1,181,352
Ensembl chrNW_004955523:1,170,303...1,182,467 		JBrowse link
G R 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 M Abcd4 ATP-binding cassette, sub-family 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 chr12:84,648,634...84,664,259
Ensembl chr12:84,648,238...84,664,187 		JBrowse link
G H ABCD4 ATP binding cassette subfamily D member 4 IAGP ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:22922874 PMID:23141461 PMID:25234635 PMID:25741868 PMID:28492532 More... NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055 		JBrowse link
G N Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chrNW_004624846:5,123,283...5,160,333
Ensembl chrNW_004624846:5,124,583...5,160,333 		JBrowse link
G G DCDC2C doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr14:103,746,056...103,943,630
Ensembl chr14:103,871,408...103,943,501 		JBrowse link
G P DCDC2C doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr 3:131,082,277...131,194,726
Ensembl chr 3:131,095,460...131,194,949 		JBrowse link
G S Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chrNW_004936532:1,816,573...1,866,029
Ensembl chrNW_004936532:1,816,573...1,861,250 		JBrowse link
G D DCDC2C doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr17:2,216,402...2,310,398
Ensembl chr17:2,216,391...2,310,174 		JBrowse link
G B DCDC2C doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr2A:3,720,400...3,807,658
Ensembl chr2A:3,638,431...3,778,383 		JBrowse link
G C Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chrNW_004955487:3,698,708...3,756,669
Ensembl chrNW_004955487:3,725,286...3,756,698 		JBrowse link
G R 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 M Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr12:28,487,794...28,602,941
Ensembl chr12:28,487,794...28,602,448 		JBrowse link
G H DCDC2C doublecortin domain containing 2C IAGP ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr 2:3,703,575...3,848,008
Ensembl chr 2:3,703,575...3,848,008 		JBrowse link
G N 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 chrNW_004624946:571,776...591,543
Ensembl chrNW_004624946:571,774...590,247 		JBrowse link
G 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:128,371,518...128,395,920
Ensembl chr  X:128,371,517...128,394,861 		JBrowse link
G P 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:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G S 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 chrNW_004936809:827,008...853,689
Ensembl chrNW_004936809:827,031...853,644 		JBrowse link
G D 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:121,790,585...121,815,395
Ensembl chr  X:121,791,660...121,814,715 		JBrowse link
G B 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:143,502,159...143,526,418
Ensembl chr  X:153,389,859...153,412,999 		JBrowse link
G C 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 chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597 		JBrowse link
G R 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 M 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:72,986,400...73,011,430
Ensembl chr  X:72,986,398...73,009,963 		JBrowse link
G H HCFC1 host cell factor C1 IAGP 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:153,947,557...153,971,818
Ensembl chr  X:153,947,557...153,971,818 		JBrowse link
G N 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 chrNW_004624753:27,283,570...27,423,118
Ensembl chrNW_004624753:27,283,871...27,375,897 		JBrowse link
G 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 chr17:5,169,347...5,295,565
Ensembl chr17:5,169,478...5,295,127 		JBrowse link
G P 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 1:49,869,184...49,977,984
Ensembl chr 1:49,868,613...49,977,965 		JBrowse link
G S 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 chrNW_004936618:1,694,886...1,792,586
Ensembl chrNW_004936618:1,689,646...1,792,802 		JBrowse link
G D 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 chr12:32,274,056...32,383,737
Ensembl chr12:32,274,412...32,383,578 		JBrowse link
G B 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 6:67,515,861...67,638,039
Ensembl chr 6:70,814,770...70,937,116 		JBrowse link
G C 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 chrNW_004955488:4,774,835...4,879,401
Ensembl chrNW_004955488:4,772,504...4,879,423 		JBrowse link
G R 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 M 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 1:24,716,073...24,805,382
Ensembl chr 1:24,717,711...24,805,382 		JBrowse link
G H LMBRD1 LMBR1 domain containing 1 IAGP 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 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236 		JBrowse link
G H LOC126806368 MED14-independent group 3 enhancer GRCh37_chr2:150443500-150444699 IAGP ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:16199547 PMID:18385497 PMID:25741868 PMID:28492532 NCBI chr 2:149,586,986...149,588,185 JBrowse link
G H LOC129930446 ATAC-STARR-seq lymphoblastoid active region 972 IAGP 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
ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type
ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
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		 ClinVar PMID:16311595 PMID:18164228 PMID:19370762 PMID:19573432 PMID:19767224 More...
G N Mmachc metabolism of cobalamin associated C ISO 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
ClinVar		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chrNW_004624906:1,398,666...1,404,709
Ensembl chrNW_004624906:1,398,724...1,409,311 		JBrowse link
G G MMACHC metabolism of cobalamin associated C ISO 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
ClinVar		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr20:87,279,028...87,289,444
Ensembl chr20:87,279,254...87,289,490 		JBrowse link
G P MMACHC metabolism of cobalamin associated C ISO 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
ClinVar		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr 6:165,860,888...165,865,674
Ensembl chr 6:165,860,785...165,865,642 		JBrowse link
G S Mmachc metabolism of cobalamin associated C ISO 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
ClinVar		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chrNW_004936474:26,636,277...26,641,486
Ensembl chrNW_004936474:26,636,245...26,641,486 		JBrowse link
G D MMACHC metabolism of cobalamin associated C ISO 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
ClinVar		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr15:14,857,236...14,863,211
Ensembl chr15:14,857,231...14,863,113 		JBrowse link
G B MMACHC metabolism of cobalamin associated C ISO 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
ClinVar		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr 1:44,802,724...44,811,893
Ensembl chr 1:46,160,364...46,171,662 		JBrowse link
G C Mmachc metabolism of cobalamin associated C ISO 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
ClinVar		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chrNW_004955464:12,774,018...12,780,612
Ensembl chrNW_004955464:12,772,420...12,780,612 		JBrowse link
G R 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 M Mmachc methylmalonic aciduria cblC type, with homocystinuria ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:277400		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr 4:116,559,631...116,565,582
Ensembl chr 4:116,559,476...116,565,603 		JBrowse link
G H MMACHC metabolism of cobalamin associated C IAGP
ISS
EXP		 ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type
ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | 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
ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
OMIM:277400
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G N 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 chrNW_004624866:2,314,864...2,342,069
Ensembl chrNW_004624866:2,314,864...2,342,079 		JBrowse link
G 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 chr10:34,999,856...35,019,575
Ensembl chr10:34,999,067...35,019,389 		JBrowse link
G P 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 chr15:2,499,080...2,517,361
Ensembl chr15:2,499,154...2,520,799 		JBrowse link
G S 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 chrNW_004936469:27,771,741...27,804,324
Ensembl chrNW_004936469:27,771,937...27,787,233 		JBrowse link
G D 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 chr19:51,154,227...51,177,950
Ensembl chr19:51,154,249...51,177,836 		JBrowse link
G B 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 chr2B:10,278,656...10,298,700
Ensembl chr2B:153,924,371...153,942,537 		JBrowse link
G C 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 chrNW_004955440:15,317,877...15,338,139
Ensembl chrNW_004955440:15,316,822...15,337,688 		JBrowse link
G R 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 M Mmadhc methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria 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 2:50,169,893...50,189,033
Ensembl chr 2:50,169,893...50,186,813 		JBrowse link
G H MMADHC metabolism of cobalamin associated D IAGP 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 2:149,569,637...149,587,775
Ensembl chr 2:149,569,637...149,587,778 		JBrowse link
G N 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chrNW_004624906:1,405,253...1,414,980
Ensembl chrNW_004624906:1,405,253...1,414,926 		JBrowse link
G 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chr20:87,267,026...87,277,634
Ensembl chr20:87,267,044...87,279,978 		JBrowse link
G P 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chr 6:165,847,390...165,859,918
Ensembl chr 6:165,824,395...165,861,442 		JBrowse link
G S 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chrNW_004936474:26,641,776...26,653,291
Ensembl chrNW_004936474:26,639,259...26,653,328 		JBrowse link
G D 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chr15:14,834,009...14,855,665
Ensembl chr15:14,838,652...14,862,971 		JBrowse link
G B 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chr 1:44,813,508...44,824,430
Ensembl chr 1:46,171,453...46,182,018 		JBrowse link
G C 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chrNW_004955464:12,761,390...12,773,413
Ensembl chrNW_004955464:12,761,401...12,773,146 		JBrowse link
G R 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 M 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 4:116,542,796...116,557,196
Ensembl chr 4:116,542,741...116,558,019 		JBrowse link
G H PRDX1 peroxiredoxin 1 IAGP
EXP		 ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732 		JBrowse link
G N Thap11 THAP domain containing 11 ISO OMIM:277400 MouseDO NCBI chrNW_004624746:18,527,396...18,530,145
Ensembl chrNW_004624746:18,511,684...18,530,149 		JBrowse link
G G THAP11 THAP domain containing 11 ISO OMIM:277400 MouseDO NCBI chr 5:59,595,411...59,598,401
Ensembl chr 5:59,596,106...59,597,047 		JBrowse link
G P THAP11 THAP domain containing 11 ISO OMIM:277400 MouseDO NCBI chr 6:28,465,458...28,466,387
Ensembl chr 6:28,465,208...28,467,074 		JBrowse link
G S Thap11 THAP domain containing 11 ISO OMIM:277400 MouseDO NCBI chrNW_004936475:18,209,683...18,212,294
Ensembl chrNW_004936475:18,210,732...18,211,634 		JBrowse link
G D THAP11 THAP domain containing 11 ISO OMIM:277400 MouseDO NCBI chr 5:81,635,251...81,637,379
Ensembl chr 5:81,635,970...81,636,902 		JBrowse link
G B THAP11 THAP domain containing 11 ISO OMIM:277400 MouseDO NCBI chr16:48,182,825...48,185,866
Ensembl chr16:67,571,277...67,572,206 		JBrowse link
G C Thap11 THAP domain containing 11 ISO OMIM:277400 MouseDO NCBI chrNW_004955484:8,857,015...8,859,091
Ensembl chrNW_004955484:8,857,684...8,858,592 		JBrowse link
G R 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
G M Thap11 THAP domain containing 11 IAGP OMIM:277400 MouseDO NCBI chr 8:106,581,735...106,583,582
Ensembl chr 8:106,581,764...106,583,582 		JBrowse link
G H THAP11 THAP domain containing 11 ISS OMIM:277400 MouseDO NCBI chr16:67,842,320...67,844,195
Ensembl chr16:67,842,320...67,844,195 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 199759
    Nutritional and Metabolic Diseases 74870
      disease of metabolism 74870
        inherited metabolic disorder 57137
          vitamin metabolic disorder 964
            vitamin B12 deficiency 308
              methylmalonic aciduria and homocystinuria type cblC 82
Path 2
Term Annotations click to browse term
  disease 199759
    Nutritional and Metabolic Diseases 74870
      disease of metabolism 74870
        acquired metabolic disease 23756
          nutrition disease 9490
            Malnutrition 3273
              nutritional deficiency disease 3116
                Avitaminosis 2045
                  Vitamin B Deficiency 1530
                    hyperhomocysteinemia 1220
                      homocystinuria 876
                        Methylmalonic Aciduria and Homocystinuria 217
                          methylmalonic aciduria and homocystinuria type cblC 82
paths to the root