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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:hyperhomocysteinemia
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Accession:DOID:9279 term browser browse the term
Definition:Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 µmol/l). Hyperhomocysteinemia can be familial or acquired. Development of the acquired hyperhomocysteinemia is mostly associated with vitamins B and/or folate deficiency (e.g., PERNICIOUS ANEMIA, vitamin malabsorption). Familial hyperhomocysteinemia often results in a more severe elevation of total homocysteine and excretion into the urine, resulting in HOMOCYSTINURIA. Hyperhomocysteinemia is a risk factor for cardiovascular and neurodegenerative diseases, osteoporotic fractures and complications during pregnancy.
Synonyms:exact_synonym: HOMOCYSTEINE, TOTAL PLASMA, ELEVATED;   Homocysteinemia;   Hyperhomocysteinaemia;   Hyperhomocysteinemias
 primary_id: MESH:C566403;   MESH:D020138;   RDO:0000510
 alt_id: OMIM:603174;   RDO:0014767
 xref: NCI:C84770
For additional species annotation, visit the Alliance of Genome Resources.


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hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:24386282 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Ahcy adenosylhomocysteinase IDA RGD PMID:12208805 RGD:1598896 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Apoe apolipoprotein E treatment IEP RGD PMID:22762542 RGD:6903856 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Bche butyrylcholinesterase IDA Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Cbs cystathionine beta synthase susceptibility IEP
ISO
mRNA:decreased expression, protein:decreased expression
ClinVar Annotator: match by term: Hyperhomocysteinemia
associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7762555 PMID:12686134 PMID:16205833 PMID:16479318 PMID:17292331 PMID:19028542 PMID:19204075 PMID:21517828 PMID:22267502 PMID:22977242 PMID:25741868 PMID:28492532, PMID:16636197, PMID:10704624 RGD:1600624, RGD:40903036 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cth cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Ece1 endothelin converting enzyme 1 IMP RGD PMID:19371338 RGD:4892572 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
JBrowse link
G Ednra endothelin receptor type A IEP RGD PMID:19371338 RGD:4892572 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G F10 coagulation factor X treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F12 coagulation factor XII treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G F2 coagulation factor II treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F8 coagulation factor VIII IDA RGD PMID:16046705 RGD:1601105 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Fcrl2 Fc receptor-like 2 ISO RGD PMID:10679944 RGD:1601421 NCBI chr 2:186,594,442...186,605,115
Ensembl chr 2:186,595,051...186,606,172
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO DNA:missense mutations, nonsense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)
CTD PMID:10459572 PMID:15226090 PMID:16317120 PMID:16397167 PMID:16411416 PMID:16575899 PMID:17387702 PMID:18234410 PMID:18551038 PMID:19204075 PMID:19646848, PMID:10679944, PMID:12471611 RGD:1601421, RGD:10449400 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899 PMID:17369066 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Ngf nerve growth factor IEP RGD PMID:21044172 RGD:5144149 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Nppb natriuretic peptide B IEP mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331 PMID:19028542 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 1:199,438,029...199,439,062
Ensembl chr 1:199,437,832...199,439,210
JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr10:65,728,508...65,741,708
Ensembl chr10:65,733,991...65,740,828
JBrowse link
G Sod2 superoxide dismutase 2 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
cystathioninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cth cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Cystathioninuria
ClinVar Annotator: match by OMIM:219500
OMIM
ClinVar
PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 PMID:20584029 PMID:23555315 PMID:25741868 PMID:28492532 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO DNA:point mutation:exon:G307S
ClinVar Annotator: match by term: CBS deficiency
ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency
ClinVar Annotator: match by term: Homocystinuria
ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive
ClinVar Annotator: match by term: Homocystinuria due to CBS deficiency
ClinVar Annotator: match by OMIM:236200
ClinVar
OMIM
PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7564249 PMID:7581402 PMID:7611293 PMID:7635485 PMID:7762555 PMID:7849717 PMID:7967489 PMID:7981678 PMID:8353501 PMID:8528202 PMID:8554066 PMID:8744616 PMID:8755636 PMID:8803779 PMID:8940271 PMID:8940285 PMID:8990018 PMID:9156316 PMID:9232191 PMID:9266356 PMID:9361025 PMID:9536098 PMID:9587029 PMID:9590298 PMID:9708897 PMID:9813456 PMID:9864922 PMID:9870207 PMID:9889017 PMID:10215408 PMID:10328723 PMID:10338090 PMID:10363126 PMID:10364517 PMID:10408774 PMID:10531322 PMID:10687314 PMID:10780316 PMID:10807759 PMID:11204591 PMID:11230183 PMID:11343305 PMID:11359213 PMID:11434706 PMID:11524006 PMID:11553052 PMID:11774777 PMID:12007221 PMID:12124992 PMID:12269827 PMID:12379655 PMID:12552044 PMID:12686134 PMID:12815602 PMID:12828591 PMID:14635102 PMID:14722619 PMID:14722927 PMID:14972327 PMID:15087459 PMID:15146473 PMID:15192637 PMID:15365998 PMID:15494741 PMID:15993874 PMID:16205833 PMID:16245937 PMID:16307898 PMID:16375773 PMID:16429402 PMID:16470595 PMID:16479318 PMID:16619244 PMID:16786517 PMID:17069888 PMID:17072863 PMID:17319270 PMID:17327360 PMID:17352495 PMID:17540596 PMID:17576681 PMID:18201569 PMID:18280597 PMID:18423051 PMID:18454451 PMID:18708589 PMID:18805305 PMID:18950795 PMID:19232736 PMID:19370759 PMID:19429038 PMID:19819175 PMID:19906435 PMID:19914636 PMID:20066033 PMID:20308073 PMID:20455263 PMID:20490928 PMID:20506325 PMID:20567906 PMID:20601281 PMID:20694756 PMID:20821054 PMID:20871414 PMID:21030686 PMID:21062078 PMID:21240075 PMID:21517828 PMID:21520339 PMID:21626167 PMID:21957013 PMID:22002135 PMID:22069143 PMID:22267502 PMID:22333527 PMID:22353391 PMID:22382802 PMID:22612060 PMID:22738154 PMID:22891245 PMID:22977242 PMID:22985361 PMID:23592311 PMID:23733603 PMID:23812867 PMID:23934999 PMID:23974653 PMID:23981774 PMID:24033266 PMID:24138954 PMID:24211323 PMID:24613005 PMID:24990611 PMID:25044645 PMID:25087612 PMID:25197074 PMID:25218699 PMID:25331909 PMID:25516723 PMID:25741868 PMID:25939784 PMID:26464485 PMID:26750749 PMID:27243974 PMID:27959664 PMID:28421128 PMID:28488385 PMID:28492532 PMID:28550590 PMID:28583326 PMID:28980096 PMID:29326875 PMID:29352562 PMID:29508359 PMID:29650765 PMID:30246729 PMID:30732165 PMID:31240737 PMID:32245022 PMID:33223529, PMID:7506602 RGD:1600622 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Fcrl2 Fc receptor-like 2 ISO RGD PMID:10679944 RGD:1601421 NCBI chr 2:186,594,442...186,605,115
Ensembl chr 2:186,595,051...186,606,172
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 PMID:19370762 PMID:19700356 PMID:25398587 PMID:25672861 PMID:25689098 PMID:25741868 PMID:26825575 PMID:26990548 PMID:28492532 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO
ISS
DNA:missense mutations, nonsense mutations:cds:multiple (human)
OMIM:236200 | OMIM:236250
MouseDO PMID:10679944 RGD:1601421 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:8968736 PMID:9235907 PMID:12068375 PMID:25526710 PMID:25558065 PMID:25741868 PMID:25856670 PMID:28492532 PMID:28666289 PMID:32581362 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO DNA:polymorphisms,mutations: :
ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10484769 PMID:12555939 PMID:15714522 PMID:24033266, PMID:15714522 RGD:5508189 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency ClinVar PMID:25741868 NCBI chr 9:26,164,969...26,736,704 JBrowse link
Homocystinuria, Pyridoxine-Responsive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive
ClinVar PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7611293 PMID:7635485 PMID:7762555 PMID:8353501 PMID:8528202 PMID:8554066 PMID:8755636 PMID:8803779 PMID:8940271 PMID:8990018 PMID:9156316 PMID:9232191 PMID:9361025 PMID:9587029 PMID:9708897 PMID:9864922 PMID:10215408 PMID:10328723 PMID:10338090 PMID:10364517 PMID:10408774 PMID:10531322 PMID:10807759 PMID:11230183 PMID:11343305 PMID:11359213 PMID:11434706 PMID:12007221 PMID:12124992 PMID:12269827 PMID:12552044 PMID:12686134 PMID:14635102 PMID:14722619 PMID:14722927 PMID:14972327 PMID:15087459 PMID:15146473 PMID:15192637 PMID:15365998 PMID:16245937 PMID:16307898 PMID:16375773 PMID:16479318 PMID:16619244 PMID:17072863 PMID:17540596 PMID:18201569 PMID:18805305 PMID:19232736 PMID:19819175 PMID:20066033 PMID:20490928 PMID:20506325 PMID:20567906 PMID:21520339 PMID:22069143 PMID:22267502 PMID:22333527 PMID:22612060 PMID:22738154 PMID:23592311 PMID:23974653 PMID:24033266 PMID:24211323 PMID:25044645 PMID:25218699 PMID:25331909 PMID:25516723 PMID:25741868 PMID:26750749 PMID:28488385 PMID:28492532 PMID:28583326 PMID:29650765 PMID:33223529 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
homocystinuria-megaloblastic anemia cblE type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type
ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:236270
OMIM
ClinVar
PMID:1060915 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 PMID:10444342 PMID:10484769 PMID:10500018 PMID:10930360 PMID:12375236 PMID:12555939 PMID:12923861 PMID:12971424 PMID:15292234 PMID:15494741 PMID:15714522 PMID:15797993 PMID:15979034 PMID:16013960 PMID:17576681 PMID:18368069 PMID:20120036 PMID:22887477 PMID:22992668 PMID:25227144 PMID:25526710 PMID:25741868 PMID:25978498 PMID:28492532 PMID:30041674 PMID:31063268 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102551309 uncharacterized LOC102551309 ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr 5:164,875,558...164,885,606
Ensembl chr 5:164,874,832...164,883,933
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency
ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency
ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
ClinVar Annotator: match by OMIM:236250
OMIM
ClinVar
PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 PMID:7647779 PMID:7726158 PMID:7741859 PMID:7920641 PMID:8542260 PMID:8554053 PMID:8554066 PMID:8616944 PMID:8771990 PMID:8826441 PMID:8837319 PMID:8892013 PMID:8903338 PMID:8940272 PMID:8981967 PMID:8994411 PMID:9133512 PMID:9192280 PMID:9244205 PMID:9341863 PMID:9372726 PMID:9453374 PMID:9536098 PMID:9545395 PMID:9545406 PMID:9737770 PMID:9781030 PMID:9789068 PMID:9798595 PMID:9843036 PMID:9863598 PMID:10196703 PMID:10323741 PMID:10440833 PMID:10551815 PMID:10677336 PMID:10732818 PMID:10767000 PMID:10869114 PMID:10923034 PMID:10930360 PMID:10958762 PMID:11121176 PMID:11140843 PMID:11418485 PMID:11590551 PMID:11742092 PMID:11752418 PMID:11781870 PMID:11807890 PMID:11863127 PMID:11888585 PMID:11929966 PMID:11938441 PMID:12080391 PMID:12095808 PMID:12154064 PMID:12165282 PMID:12196644 PMID:12221667 PMID:12356947 PMID:12383688 PMID:12384649 PMID:12387655 PMID:12400059 PMID:12406076 PMID:12428084 PMID:12453860 PMID:12529699 PMID:12560871 PMID:12673793 PMID:12733064 PMID:12796225 PMID:12840091 PMID:12915598 PMID:14647408 PMID:15048559 PMID:15051775 PMID:15054400 PMID:15103709 PMID:15154859 PMID:15173232 PMID:15534175 PMID:15543147 PMID:15565101 PMID:15704130 PMID:15729744 PMID:15781665 PMID:15806605 PMID:15808177 PMID:15951337 PMID:16013960 PMID:16019535 PMID:16172608 PMID:16244782 PMID:16365871 PMID:16402130 PMID:16432849 PMID:16462575 PMID:16463153 PMID:16470725 PMID:16501586 PMID:16712703 PMID:16800002 PMID:16870553 PMID:17180579 PMID:17284634 PMID:17323057 PMID:17350979 PMID:17409006 PMID:17436239 PMID:17488658 PMID:17512587 PMID:17543893 PMID:17576681 PMID:17726486 PMID:17898028 PMID:18458567 PMID:18523009 PMID:18583979 PMID:18704422 PMID:18987660 PMID:19159907 PMID:19307503 PMID:19648163 PMID:20154341 PMID:20236116 PMID:20356773 PMID:20490923 PMID:20638924 PMID:21605004 PMID:21644011 PMID:21747412 PMID:21778025 PMID:22143415 PMID:22838948 PMID:22887477 PMID:22992668 PMID:23089671 PMID:23488607 PMID:23648444 PMID:23775025 PMID:24033266 PMID:24241962 PMID:24637499 PMID:24797679 PMID:24997712 PMID:25007187 PMID:25024447 PMID:25065700 PMID:25079578 PMID:25110820 PMID:25227144 PMID:25303299 PMID:25736335 PMID:25741868 PMID:25778468 PMID:25856670 PMID:26014925 PMID:26025547 PMID:26872964 PMID:26898294 PMID:27399166 PMID:27743313 PMID:27768236 PMID:28492532 PMID:28696419 PMID:29391032 PMID:29683944 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:25741868 NCBI chr 6:47,737,814...47,812,219
Ensembl chr 6:47,774,060...47,848,075
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:11889412 PMID:20360539 PMID:22905681 PMID:23219219 PMID:23806086 PMID:23935525 PMID:24015197 PMID:24033266 PMID:24088041 PMID:24582695 PMID:25382311 PMID:25687216 PMID:25741868 PMID:26866599 PMID:26990548 PMID:27657681 PMID:28340804 PMID:28492532 PMID:28646478 PMID:29132836 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 PMID:27403441 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type
ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
ClinVar Annotator: match by OMIM:277400
OMIM
ClinVar
CTD
PMID:11261516 PMID:11320193 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17768669 PMID:17853453 PMID:18164228 PMID:18245139 PMID:19370762 PMID:19700356 PMID:19760748 PMID:19767224 PMID:19836982 PMID:19914430 PMID:20219402 PMID:20549364 PMID:20610126 PMID:20631720 PMID:20652818 PMID:20924684 PMID:21055272 PMID:21114891 PMID:21228398 PMID:21835369 PMID:22447314 PMID:22560872 PMID:22642810 PMID:23580368 PMID:23757202 PMID:23825108 PMID:23837176 PMID:23954310 PMID:24033266 PMID:24126030 PMID:24210589 PMID:24577983 PMID:24599607 PMID:25388550 PMID:25398587 PMID:25511120 PMID:25668207 PMID:25672861 PMID:25687216 PMID:25689098 PMID:25741868 PMID:25772322 PMID:25809485 PMID:25894566 PMID:26149271 PMID:26270766 PMID:26283149 PMID:26287336 PMID:26412180 PMID:26563984 PMID:26658511 PMID:26825575 PMID:26979128 PMID:26990548 PMID:27252276 PMID:27383490 PMID:27751223 PMID:28151490 PMID:28218226 PMID:28327205 PMID:28454995 PMID:28492532 PMID:28693988 PMID:29042959 PMID:29294253 PMID:29379858 PMID:29396438 PMID:30157807 PMID:32164588 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar NCBI chr 3:35,783,511...35,801,474
Ensembl chr 3:35,783,623...35,801,614
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
ClinVar
OMIM
PMID:25741868 PMID:29396438 NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990
JBrowse link
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
ClinVar Annotator: match by OMIM:614857
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22922874 PMID:25741868 PMID:28492532 NCBI chr 6:108,315,026...108,329,550
Ensembl chr 6:108,315,035...108,329,464
JBrowse link
Mthfr Deficiency, Thermolabile Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: MTHFR deficiency, thermolabile type ClinVar PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 PMID:8554053 PMID:8554066 PMID:8616944 PMID:8771990 PMID:8826441 PMID:8837319 PMID:8892013 PMID:8903338 PMID:8981967 PMID:8994411 PMID:9133512 PMID:9192280 PMID:9244205 PMID:9341863 PMID:9372726 PMID:9453374 PMID:9545395 PMID:9545406 PMID:9737770 PMID:9789068 PMID:9798595 PMID:9843036 PMID:9863598 PMID:10196703 PMID:10323741 PMID:10440833 PMID:10677336 PMID:10732818 PMID:10869114 PMID:10930360 PMID:10958762 PMID:11121176 PMID:11140843 PMID:11418485 PMID:11590551 PMID:11742092 PMID:11752418 PMID:11781870 PMID:11807890 PMID:11863127 PMID:11888585 PMID:11929966 PMID:11938441 PMID:12080391 PMID:12095808 PMID:12154064 PMID:12165282 PMID:12196644 PMID:12221667 PMID:12356947 PMID:12383688 PMID:12384649 PMID:12387655 PMID:12400059 PMID:12406076 PMID:12428084 PMID:12453860 PMID:12529699 PMID:12560871 PMID:12796225 PMID:12915598 PMID:14647408 PMID:15051775 PMID:15054400 PMID:15103709 PMID:15154859 PMID:15173232 PMID:15534175 PMID:15543147 PMID:15565101 PMID:15704130 PMID:15729744 PMID:15781665 PMID:15806605 PMID:15808177 PMID:15951337 PMID:16013960 PMID:16019535 PMID:16172608 PMID:16244782 PMID:16365871 PMID:16402130 PMID:16432849 PMID:16462575 PMID:16463153 PMID:16470725 PMID:16501586 PMID:16712703 PMID:16800002 PMID:16870553 PMID:17180579 PMID:17284634 PMID:17323057 PMID:17350979 PMID:17436239 PMID:17488658 PMID:17512587 PMID:17543893 PMID:17726486 PMID:17898028 PMID:18458567 PMID:18583979 PMID:18704422 PMID:18987660 PMID:19159907 PMID:19307503 PMID:19648163 PMID:20154341 PMID:20638924 PMID:21605004 PMID:21644011 PMID:21747412 PMID:22143415 PMID:22838948 PMID:22992668 PMID:23089671 PMID:23488607 PMID:23648444 PMID:23775025 PMID:24241962 PMID:24637499 PMID:25007187 PMID:25065700 PMID:25110820 PMID:25227144 PMID:25303299 PMID:25741868 PMID:25778468 PMID:26014925 PMID:27399166 PMID:28696419 PMID:29683944 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      Malabsorption Syndromes 121
        hyperhomocysteinemia 50
          cystathioninuria 1
          homocystinuria + 14
Path 2
Term Annotations click to browse term
  disease 16918
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        acquired metabolic disease 2820
          nutrition disease 903
            Malnutrition 207
              nutritional deficiency disease 198
                Avitaminosis 120
                  Vitamin B Deficiency 71
                    hyperhomocysteinemia 50
                      cystathioninuria 1
                      homocystinuria + 14
paths to the root