Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
Accession:DOID:9279 term browser browse the term
Definition:An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. (DO)
Synonyms:exact_synonym: HOMOCYSTEINE, TOTAL PLASMA, ELEVATED;   Homocysteinemia;   hyperhomocysteinaemia;   hyperhomocysteinemias
 primary_id: MESH:D020138
 alt_id: MESH:C566403;   OMIM:603174
 xref: NCI:C84770


show annotations for term's descendants           Sort by:
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 chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833 		JBrowse link
G AHCY adenosylhomocysteinase ISO RGD PMID:12208805 RGD:1598896 NCBI chr17:37,726,084...37,744,378
Ensembl chr17:37,726,084...37,744,461 		JBrowse link
G APOE apolipoprotein E treatment ISO RGD PMID:22762542 RGD:6903856 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 4:104,353,506...104,384,321
Ensembl chr 4:104,353,508...104,384,547 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,341,322...90,370,996 		JBrowse link
G BCHE butyrylcholinesterase ISO Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr13:104,946,732...105,007,568 JBrowse link
G CASP1 caspase 1, apoptosis-related cysteine peptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328 		JBrowse link
G CBS cystathionine beta-synthase susceptibility ISO associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human)
ClinVar Annotator: match by term: Hyperhomocysteinemia		 RGD
ClinVar		 PMID:7762555 PMID:10704624 PMID:12686134 PMID:16205833 PMID:16479318 More... RGD:40903036 NCBI chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CTH cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 PMID:25741868 NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,454,914...142,486,367 		JBrowse link
G DES desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A ISO protein:decreased expression:heart (rat) RGD PMID:19906449 RGD:401959215 NCBI chr13:201,008,506...201,159,946
Ensembl chr13:201,009,480...201,159,948 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO RGD PMID:19371338 RGD:4892572 NCBI chr 6:79,408,322...79,465,827
Ensembl chr 6:79,408,326...79,466,152 		JBrowse link
G EDNRA endothelin receptor type A ISO RGD PMID:19371338 RGD:4892572 NCBI chr 8:81,210,750...81,279,053
Ensembl chr 8:81,209,327...81,276,853 		JBrowse link
G F10 coagulation factor X treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr11:78,521,760...78,538,256
Ensembl chr11:78,521,598...78,538,258 		JBrowse link
G F12 coagulation factor XII treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr 2:80,527,451...80,544,835
Ensembl chr 2:80,527,446...80,544,828 		JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137 		JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:16046705 RGD:1601105 NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GNMT glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr 7:38,038,359...38,041,218
Ensembl chr 7:38,038,358...38,041,217 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433 		JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr16:69,332,786...69,654,366
Ensembl chr16:69,332,587...69,655,380 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,750,700...33,143,499 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,528...58,927,558 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic
associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)
DNA:missense mutations, nonsense mutations:CDS:multiple (human)		 CTD
RGD		 PMID:10459572 PMID:10679944 PMID:12471611 PMID:15226090 PMID:16317120 More... RGD:10449400 RGD:1601421 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899 PMID:17369066 NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,228...74,270,783 		JBrowse link
G NGF nerve growth factor ISO RGD PMID:21044172 RGD:5144149 NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 6:45,248,325...45,271,892
Ensembl chr 6:45,248,325...45,274,577 		JBrowse link
G NPPB natriuretic peptide B ISO mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254 		JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331 PMID:19028542 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
G PYCARD PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 3:17,305,921...17,307,521
Ensembl chr 3:17,306,099...17,307,786 		JBrowse link
G SLC46A1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr12:44,677,499...44,686,277
Ensembl chr12:44,677,502...44,686,250 		JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		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 term: Gamma-cystathionase deficiency OMIM
ClinVar		 PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 More... NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,454,914...142,486,367 		JBrowse link
homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:205,561,897...205,628,428
Ensembl chr13:205,561,951...205,628,425 		JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,746,915...207,791,809
Ensembl chr13:207,691,174...207,791,802 		JBrowse link
G AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:206,803,219...206,906,363
Ensembl chr13:206,884,538...206,906,353 		JBrowse link
G AIRE autoimmune regulator ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,148,401...207,158,355
Ensembl chr13:207,148,401...207,158,532 		JBrowse link
G C2CD2 C2 calcium dependent domain containing 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:205,248,991...205,313,868
Ensembl chr13:205,246,716...205,313,717 		JBrowse link
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive OMIM
ClinVar		 PMID:1301198 PMID:2056790 PMID:2152033 PMID:6711564 PMID:7506602 More... NCBI chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,196,884...207,204,741
Ensembl chr13:207,196,117...207,204,719 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,907,835...207,984,082
Ensembl chr13:207,940,948...207,982,938 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532
G CRYAA crystallin alpha A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:206,293,877...206,297,050
Ensembl chr13:206,293,849...206,297,015 		JBrowse link
G CSTB cystatin B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646 		JBrowse link
G CUNH21orf58 chromosome unknown C21orf58 homolog ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532
G DNMT3L DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,119,025...207,141,990
Ensembl chr13:207,119,051...207,132,538 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532
G GATD3 glutamine amidotransferase class 1 domain containing 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,042,929...207,051,814
Ensembl chr13:207,042,952...207,056,770 		JBrowse link
G HSF2BP heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:206,545,353...206,629,151
Ensembl chr13:206,545,354...206,629,156 		JBrowse link
G ICOSLG inducible T cell costimulator ligand ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,106,202...207,115,886 JBrowse link
G ITGB2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107 		JBrowse link
G LOC100518807 keratin-associated protein 10-12 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:204,987,662...204,988,803 JBrowse link
G LOC100622826 keratin-associated protein 10-3-like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,403,140...207,404,529 JBrowse link
G LOC100623720 collagen alpha-1(VI) chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,451...208,313,127 		JBrowse link
G LOC106508044 keratin-associated protein 12-1-like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,393,361...207,394,154 JBrowse link
G LRRC3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,270,099...207,275,901
Ensembl chr13:207,271,416...207,272,189 		JBrowse link
G LSS lanosterol synthase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532
G MCM3AP minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532
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 More... NCBI chr 6:165,860,888...165,865,674
Ensembl chr 6:165,860,785...165,865,642 		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 More... NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria ClinVar PMID:10484769 PMID:15714522 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,228...74,270,783 		JBrowse link
G NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:206,111,337...206,123,987 JBrowse link
G PCBP3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:208,060,949...208,259,368
Ensembl chr13:208,094,877...208,259,369 		JBrowse link
G PCNT pericentrin ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532
G PDE9A phosphodiesterase 9A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:205,938,342...206,034,981
Ensembl chr13:205,938,348...206,034,976 		JBrowse link
G PDXK pyridoxal kinase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:206,676,905...206,699,047
Ensembl chr13:206,676,730...206,703,326 		JBrowse link
G PFKL phosphofructokinase, liver type ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,167,287...207,191,688
Ensembl chr13:207,167,281...207,191,671 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: CBS deficiency ClinVar PMID:25741868 NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149 		JBrowse link
G PKNOX1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:206,159,264...206,195,471
Ensembl chr13:206,167,156...206,195,468 		JBrowse link
G POFUT2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,801,101...207,818,138 JBrowse link
G PRDM15 PR/SET domain 15 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:205,174,356...205,241,562
Ensembl chr13:205,173,517...205,241,490 		JBrowse link
G PTTG1IP PTTG1 interacting protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,493,656...207,507,089
Ensembl chr13:207,493,659...207,499,867 		JBrowse link
G PWP2 PWP2 small subunit processome component ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,015,047...207,031,752
Ensembl chr13:207,015,125...207,031,879 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:205,127,239...205,153,000
Ensembl chr13:205,127,244...205,153,005 		JBrowse link
G RRP1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:206,722,591...206,736,000
Ensembl chr13:206,722,596...206,735,997 		JBrowse link
G RRP1B ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:206,629,176...206,653,374
Ensembl chr13:206,629,204...206,651,123 		JBrowse link
G RSPH1 radial spoke head component 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:205,808,923...205,827,098
Ensembl chr13:205,808,671...205,827,213 		JBrowse link
G SIK1 salt inducible kinase 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:206,454,695...206,465,802
Ensembl chr13:206,454,718...206,465,807 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675 		JBrowse link
G SLC37A1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:205,826,948...205,901,824
Ensembl chr13:205,843,095...205,898,586 		JBrowse link
G SLX9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,560,855...207,588,502
Ensembl chr13:207,560,990...207,588,501 		JBrowse link
G SPATC1L spermatogenesis and centriole associated 1 like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532
G SUMO3 small ubiquitin like modifier 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,475,303...207,484,362
Ensembl chr13:207,476,441...207,484,250 		JBrowse link
G TFF1 trefoil factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:205,687,558...205,691,512
Ensembl chr13:205,687,560...205,691,460 		JBrowse link
G TFF2 trefoil factor 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:205,669,014...205,672,319
Ensembl chr13:205,669,014...205,672,324 		JBrowse link
G TFF3 trefoil factor 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:205,641,038...205,644,333
Ensembl chr13:205,641,038...205,644,333 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:205,707,501...205,733,037
Ensembl chr13:205,709,663...205,732,824 		JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:206,936,311...207,013,112
Ensembl chr13:206,936,333...207,013,102 		JBrowse link
G TRPM2 transient receptor potential cation channel subfamily M member 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,212,339...207,263,313
Ensembl chr13:207,212,457...207,262,064 		JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,285,878...207,412,523
Ensembl chr13:207,285,886...207,412,511 		JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:206,244,772...206,257,697
Ensembl chr13:206,244,773...206,257,702 		JBrowse link
G UBASH3A ubiquitin associated and SH3 domain containing A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:205,744,395...205,786,484
Ensembl chr13:205,744,393...205,787,056 		JBrowse link
G UBE2G2 ubiquitin conjugating enzyme E2 G2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:207,444,529...207,471,826
Ensembl chr13:207,444,533...207,471,796 		JBrowse link
G UMODL1 uromodulin like 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:205,425,338...205,494,492
Ensembl chr13:205,425,454...205,491,629 		JBrowse link
G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:206,074,943...206,094,713
Ensembl chr13:206,074,945...206,094,297 		JBrowse link
G YBEY ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532
G ZBTB21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr13:205,345,675...205,365,151
Ensembl chr13:205,349,805...205,353,008 		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 term: Homocystinuria, pyridoxine-responsive ClinVar PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7611293 More... NCBI chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248 		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 susceptibility ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE OMIM
ClinVar		 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 PMID:10444342 More... NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,228...74,270,783 		JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102165849 uncharacterized protein C1orf167 ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr 6:71,849,204...71,866,887 JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency ClinVar
OMIM		 PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		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 chr 6:28,450,568...28,456,620
Ensembl chr 6:28,450,569...28,456,229 		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:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 OMIM
ClinVar		 PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 More... NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		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:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,816,014...124,828,225 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:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		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:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		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:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		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:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		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 chr 6:28,465,458...28,466,387
Ensembl chr 6:28,465,208...28,467,074 		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:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,695,050...124,699,349 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 7:97,568,193...97,585,693
Ensembl chr 7:97,567,712...97,585,679 		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 3:131,082,277...131,194,726
Ensembl chr 3:131,095,460...131,194,949 		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:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		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 1:49,869,184...49,977,984
Ensembl chr 1:49,868,613...49,977,965 		JBrowse link
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 chr 6:165,860,888...165,865,674
Ensembl chr 6:165,860,785...165,865,642 		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 chr15:2,499,080...2,517,361
Ensembl chr15:2,499,154...2,520,799 		JBrowse link
G PRDX1 peroxiredoxin 1 ISO 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 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
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: 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
ClinVar		 PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 More... NCBI chr15:2,499,080...2,517,361
Ensembl chr15:2,499,154...2,520,799 		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 chr12:5,847,170...5,855,791
Ensembl chr12:5,847,187...5,854,882 		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 1:50,044,394...50,402,256
Ensembl chr 1:50,045,065...50,399,969 		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 1:50,403,355...50,498,356
Ensembl chr 1:50,403,361...50,498,332 		JBrowse link
G LMBRD1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19136951 PMID:21303734 More... NCBI chr 1:49,869,184...49,977,984
Ensembl chr 1:49,868,613...49,977,965 		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: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar
OMIM		 PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763 		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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 More... NCBI chr 7:97,568,193...97,585,693
Ensembl chr 7:97,567,712...97,585,679 		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 More... NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15275
    syndrome 9945
      Malabsorption Syndromes 201
        hyperhomocysteinemia 121
          cystathioninuria 1
          homocystinuria + 86
Path 2
Term Annotations click to browse term
  disease 15275
    Nutritional and Metabolic Diseases 7093
      disease of metabolism 7093
        acquired metabolic disease 2206
          nutrition disease 805
            Malnutrition 251
              nutritional deficiency disease 236
                Avitaminosis 196
                  Vitamin B Deficiency 151
                    hyperhomocysteinemia 121
                      cystathioninuria 1
                      homocystinuria + 86
paths to the root