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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:Malabsorption Syndromes
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Accession:DOID:9002984 term browser browse the term
Definition:General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients.
Synonyms:exact_synonym: Malabsorption Syndrome
 primary_id: MESH:D008286
 xref: EFO:0009554


show annotations for term's descendants           Sort by:
Malabsorption Syndromes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc46a1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17129779 PMID:17446347 NCBI chr10:63,361,504...63,367,940
Ensembl chr10:63,361,486...63,368,848 		JBrowse link
G Slc5a1 solute carrier family 5 member 1 ISO glucose/galactose malabsorption,OMIM:606824;DNA:point mutation:exon:D28N RGD PMID:2008213 RGD:1624257 NCBI chr14:77,553,990...77,618,589
Ensembl chr14:77,553,843...77,618,547 		JBrowse link
celiac disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Asah2 N-acylsphingosine amidohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 1:229,865,662...229,973,253
Ensembl chr 1:229,865,662...229,939,162 		JBrowse link
G Bach2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877 		JBrowse link
G Capn8 calpain 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr13:94,252,218...94,316,146
Ensembl chr13:94,253,054...94,316,146 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056 		JBrowse link
G Cd14 CD14 molecule ISO associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP:promoter: RGD PMID:18728522 RGD:2314152 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cd36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd80 Cd80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Celiac disease, susceptibility to, 3 | ClinVar Annotator: match by term: GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3
DNA:SNPs,haplotype: :rs231770,rs231775(human)		 OMIM
CTD
ClinVar
RGD		 PMID:8817351 PMID:9259273 PMID:9398726 PMID:10189842 PMID:10475192 More... RGD:1300387, RGD:11344917 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435 		JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010 		JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:23556408 RGD:7387257 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Fcgr3a Fc gamma receptor 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gbp5 guanylate binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 2:231,237,748...231,257,071
Ensembl chr 2:231,237,748...231,257,061 		JBrowse link
G Icos inducible T-cell co-stimulator susceptibility ISO DNA:SNP,haplotype: :rs10932037(human) RGD PMID:19020530 RGD:11344917 NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672 		JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703 		JBrowse link
G Ifi27 interferon, alpha-inducible protein 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 6:122,590,461...122,596,996
Ensembl chr 6:122,590,472...122,779,294 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30097691 PMID:26440733 RGD:14974259 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:27545437 RGD:14975156 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il15 interleukin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23269601 NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820 		JBrowse link
G Il21 interleukin 21 susceptibility ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:blood serum (human)		 CTD
RGD		 PMID:17558408 PMID:22077623 RGD:127285362 NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996 		JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNP:cds:p.R381Q(rs11209026)(human) RGD PMID:19175939 PMID:18368064 RGD:8549604, RGD:8549631 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Il6 interleukin 6 ISO associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) RGD PMID:18692934 RGD:2307292 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095 		JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Myo9b myosin IXb ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Celiac disease, susceptibility to, 4 | ClinVar Annotator: match by term: GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 4		 CTD
ClinVar		 PMID:15822038 PMID:16282976 PMID:25741868 PMID:28492532 NCBI chr16:17,945,379...18,030,114
Ensembl chr16:17,945,448...18,030,126 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Piwil2 piwi-like RNA-mediated gene silencing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr15:45,431,402...45,498,034
Ensembl chr15:45,431,703...45,497,702 		JBrowse link
G Pon1 paraoxonase 1 ISO mRNA:decreased expression:duodenum (human) RGD PMID:17664137 RGD:5509924 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pon3 paraoxonase 3 ISO mRNA:decreased expression:duodenum (human) RGD PMID:17664137 RGD:5509924 NCBI chr 4:33,356,983...33,383,681
Ensembl chr 4:33,349,168...33,383,855 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO associated with Diabetes Mellitus, Insulin-Dependent
CTD Direct Evidence: marker/mechanism
associated with Down Syndrome;DNA:polymorphism (human)
associated with Thyroiditis, Autoimmune;DNA:polymorphism (human)
DNA:polymorphisms (human)		 CTD
OMIM
RGD		 PMID:16567828 PMID:11426458 PMID:11713456 PMID:18509540 PMID:19494267 More... RGD:2301813, RGD:5147854, RGD:5147808, RGD:5147791, RGD:5147789, RGD:5147625 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms
associated with Down Syndrome;DNA:polymorphisms, haplotype:HLA-DQB1*0201 (human)
associated with Thyroiditis, Autoimmune;DNA:polymorphisms, haplotype:HLA-DQB1*02 (human)
DNA:polymorphisms, haplotypes:multiple (human)		 OMIM
CTD
RGD		 PMID:17919990 PMID:29793442 PMID:30013750 PMID:28247576 PMID:11426458 More... RGD:5147625, RGD:14974234, RGD:14928328, RGD:14865008, RGD:5147854, RGD:5147808, RGD:5147791, RGD:5147789 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphisms (human) RGD PMID:12404952 RGD:5147803 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17956852 NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156 		JBrowse link
G S100a9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230 		JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr  X:112,314,643...112,375,412
Ensembl chr  X:112,314,691...112,375,096 		JBrowse link
G Soat2 sterol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915 		JBrowse link
G Tff1 trefoil factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597 		JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:increased expression:duodenum: RGD PMID:15054143 RGD:11062102 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Tgm2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17190764 NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981 		JBrowse link
G Themis thymocyte selection associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 1:16,433,906...16,623,889
Ensembl chr 1:16,432,631...16,664,329 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703 		JBrowse link
G Tnfrsf9 TNF receptor superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 5:161,381,662...161,408,003
Ensembl chr 5:161,381,662...161,408,000 		JBrowse link
G Ubd ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639
Ensembl chr20:1,385,864...1,408,639 		JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590 		JBrowse link
G Vnn1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 1:21,537,084...21,547,395
Ensembl chr 1:21,537,094...21,547,395 		JBrowse link
G Zmiz1 zinc finger, MIZ-type containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr16:1,027,083...1,232,616
Ensembl chr16:1,027,325...1,232,597 		JBrowse link
chylomicron retention disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Chylomicron retention disease ClinVar PMID:25741868 PMID:27469900 NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743 		JBrowse link
G Pitpna phosphatidylinositol transfer protein, alpha ISS OMIM:246700 MouseDO NCBI chr10:60,430,712...60,473,564
Ensembl chr10:60,430,748...60,471,342 		JBrowse link
G Sar1b secretion associated, Ras related GTPase 1B ISO
ISS		 OMIM:246700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells		 OMIM
MouseDO
CTD
ClinVar		 PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 More... NCBI chr10:36,024,415...36,054,069
Ensembl chr10:36,024,382...36,054,066 		JBrowse link
congenital diarrhea 5 with tufting enteropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epcam epithelial cell adhesion molecule ISO
ISS		 ClinVar Annotator: match by term: Congenital diarrhea 5 with tufting enteropathy | ClinVar Annotator: match by term: Congenital tufting enteropathy | ClinVar Annotator: match by term: INTESTINAL EPITHELIAL CELL DYSPLASIA
OMIM:613217
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:18572020 PMID:19820410 PMID:20034091 PMID:20981223 PMID:21315192 More... NCBI chr 6:6,880,142...6,896,103
Ensembl chr 6:6,878,237...6,896,127 		JBrowse link
congenital malabsorptive diarrhea 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neurog3 neurogenin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital malabsorptive diarrhea 4 | ClinVar Annotator: match by term: ENTERIC ANENDOCRINOSIS		 OMIM
CTD
ClinVar		 PMID:16855267 PMID:24033266 PMID:25741868 PMID:26541772 PMID:28492532 More... NCBI chr20:30,079,780...30,081,262
Ensembl chr20:30,079,780...30,081,262 		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
ISS		 OMIM:219500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency		 OMIM
MouseDO
CTD
ClinVar		 PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 More... NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
Glucose-Galactose Malabsorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpifc BPI fold containing family C ISO ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption ClinVar PMID:28492532 NCBI chr 7:17,848,787...17,905,993
Ensembl chr 7:17,861,007...17,905,919 		JBrowse link
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption ClinVar PMID:28492532 NCBI chr 7:17,809,224...17,837,549
Ensembl chr 7:17,809,231...17,837,530 		JBrowse link
G Rtcb RNA 2',3'-cyclic phosphate and 5'-OH ligase ISO ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption ClinVar PMID:28492532 NCBI chr 7:17,907,668...17,927,136
Ensembl chr 7:17,907,705...17,927,132 		JBrowse link
G Slc5a1 solute carrier family 5 member 1 ISO ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption | ClinVar Annotator: match by term: Monosaccharide malabsorption
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2008213 PMID:8563765 PMID:8844006 PMID:9309206 PMID:9536098 More... NCBI chr14:77,553,990...77,618,589
Ensembl chr14:77,553,843...77,618,547 		JBrowse link
G Slc5a4 solute carrier family 5 member 4 ISO ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption ClinVar PMID:28492532 NCBI chr20:12,475,644...12,518,738
Ensembl chr20:12,475,644...12,518,738 		JBrowse link
hereditary folate malabsorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sarm1 sterile alpha and TIR motif containing 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption ClinVar PMID:11807405 PMID:17129779 PMID:17446347 PMID:19740703 PMID:20301716 More... NCBI chr10:63,369,456...63,393,016
Ensembl chr10:63,369,456...63,392,822 		JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar Annotator: match by term: Hereditary Folate Malabsorption
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3987728 PMID:11804211 PMID:11807405 PMID:17129779 PMID:17446347 More... NCBI chr10:63,361,504...63,367,940
Ensembl chr10:63,361,486...63,368,848 		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 chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948 		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 chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852 		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 chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358 		JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060 		JBrowse link
G C20h21orf58 similar to human chromosome 21 open reading frame 58 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,167,279...12,188,665
Ensembl chr20:12,175,442...12,187,017 		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 chr11:37,225,321...37,289,741
Ensembl chr11:37,227,415...37,289,739 		JBrowse link
G Cbs cystathionine beta synthase ISO
ISS		 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: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive
OMIM:236200 | OMIM:236250
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1301198 PMID:2056790 PMID:2152033 PMID:6711564 PMID:7506602 More... RGD:1600622 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		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 chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737 		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 chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597 		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 NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526 		JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,614,933...10,629,337
Ensembl chr20:10,614,934...10,629,516 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
G Gatd3a glutamine amidotransferase class 1 domain containing 3A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,514,793...10,522,894
Ensembl chr20:10,514,744...10,522,885 		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 chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242 		JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703 		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 chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Krtap10-1 keratin associated protein 10-1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,855,181...10,864,362 		JBrowse link
G Krtap10-10 keratin associated protein 10-10 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,854,951...10,864,402 JBrowse link
G Krtap10-2 keratin associated protein 10-2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,888,588...10,889,386 JBrowse link
G Krtap10-8 keratin associated protein 10-8 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,871,991...10,872,927
Ensembl chr20:10,871,991...10,872,844 		JBrowse link
G Krtap10-9 keratin associated protein 10-9 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,939,609...10,940,526
Ensembl chr20:10,939,609...10,940,526 		JBrowse link
G Krtap12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,917,340...10,917,949 JBrowse link
G Krtap12-2 keratin associated protein 12-2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,904,422...10,904,751 JBrowse link
G Krtap12-4 keratin associated protein 12-4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,910,350...10,910,682 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 chr20:10,758,919...10,763,736
Ensembl chr20:10,758,955...10,762,067 		JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
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 NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165 		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 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601 		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 chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		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
RGD		 PMID:10484769 PMID:12555939 PMID:15714522 PMID:24033266 PMID:25741868 More... RGD:5508189 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		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 chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074
Ensembl chr13:9,612,431...9,623,074 		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 chr20:11,678,218...11,878,210
Ensembl chr20:11,678,269...11,878,210 		JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710 		JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948 		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 chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: CBS deficiency ClinVar PMID:25741868 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		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 chr20:9,662,866...9,705,030
Ensembl chr20:9,662,899...9,703,727 		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 chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743 		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 chr11:37,164,608...37,225,172
Ensembl chr11:37,165,575...37,222,207 		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 chr20:11,030,013...11,047,742
Ensembl chr20:11,030,015...11,047,316 		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 chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640 		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 chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799 		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 chr20:10,260,892...10,272,141
Ensembl chr20:10,260,870...10,272,144 		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 chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928 		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 chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640 		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 chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991 		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 chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		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 chr20:9,360,501...9,433,895
Ensembl chr20:9,378,836...9,433,892 		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 chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521 		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 NCBI chr20:12,074,040...12,083,873
Ensembl chr20:12,074,047...12,083,301 		JBrowse link
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 chr20:11,010,140...11,020,850
Ensembl chr20:11,007,148...11,020,877
Ensembl chr20:11,007,148...11,020,877 		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 chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597 		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 chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619 		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 chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054 		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 chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363 		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 chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074 		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 chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181 		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 chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914 		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 chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832 		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 chr20:9,291,471...9,334,685
Ensembl chr20:9,292,139...9,329,224 		JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,983,734...11,005,468
Ensembl chr20:10,983,742...11,005,447 		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 chr20:9,027,751...9,087,133
Ensembl chr20:9,025,724...9,087,146 		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 chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581 		JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,165,237...12,174,713 		JBrowse link
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 chr11:37,312,337...37,327,040
Ensembl chr11:37,312,378...37,326,996 		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 chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE		 CTD
ClinVar
OMIM		 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 PMID:10444342 More... NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Ahcy adenosylhomocysteinase IDA RGD PMID:12208805 RGD:1598896 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Apoe apolipoprotein E treatment IEP RGD PMID:22762542 RGD:6903856 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Bche butyrylcholinesterase IDA Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383 		JBrowse link
G Cbs cystathionine beta synthase susceptibility IEP
ISO
ISS		 mRNA:decreased expression, protein:decreased expression
CTD Direct Evidence: marker/mechanism
associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human)
OMIM:603174
ClinVar Annotator: match by term: Hyperhomocysteinemia		 CTD
MouseDO
ClinVar
RGD		 PMID:7762555 PMID:12686134 PMID:16205833 PMID:16479318 PMID:17292331 More... RGD:1600624, RGD:40903036 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cth cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 PMID:25741868 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A IEP protein:decreased expression:heart (rat) RGD PMID:19906449 RGD:401959215 NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420 		JBrowse link
G Ece1 endothelin converting enzyme 1 IMP RGD PMID:19371338 RGD:4892572 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
G Ednra endothelin receptor type A IEP RGD PMID:19371338 RGD:4892572 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049 		JBrowse link
G F10 coagulation factor X treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141 		JBrowse link
G F12 coagulation factor XII treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G F2 coagulation factor II, thrombin treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F8 coagulation factor VIII IDA RGD PMID:16046705 RGD:1601105 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO DNA:missense mutations, nonsense mutations:CDS:multiple (human)
associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)
CTD Direct Evidence: marker/mechanism|therapeutic		 CTD
RGD		 PMID:10459572 PMID:15226090 PMID:16317120 PMID:16397167 PMID:16411416 More... RGD:1601421, RGD:10449400 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899 PMID:17369066 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Ngf nerve growth factor IEP RGD PMID:21044172 RGD:5144149 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Nppb natriuretic peptide B IEP mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331 PMID:19028542 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955 		JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr10:63,361,504...63,367,940
Ensembl chr10:63,361,486...63,368,848 		JBrowse link
G Sod2 superoxide dismutase 2 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Imerslund-Grasbeck Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More... NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377 		JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231 		JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073 		JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,353,761...77,440,384
Ensembl chr17:77,353,805...77,440,353 		JBrowse link
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:76,740,755...76,884,178
Ensembl chr17:76,745,224...76,884,299 		JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,120,235...77,166,173
Ensembl chr17:77,120,158...77,166,467 		JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481 		JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:76,601,966...76,646,104
Ensembl chr17:76,610,543...76,645,439 		JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
Imerslund-Grasbeck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type ClinVar PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Cblif cobalamin binding intrinsic factor ISO DNA:polymorphisms, missense mutations, splice sites:exon,intron:
protein:increased excretion:urine:		 RGD PMID:15738392 PMID:10435666 RGD:11049583, RGD:11049586 NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More... NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377 		JBrowse link
G Cubn cubilin ISO DNA:missense mutation:cds:p.P1297L (human)
ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... RGD:61796 NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231 		JBrowse link
Imerslund-Grasbeck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO DNA:mutation:splice site:
ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type		 ClinVar
OMIM
RGD		 PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... RGD:11071839 NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More... NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377 		JBrowse link
lactose intolerance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lct lactase ISO ClinVar Annotator: match by term: Lactose intolerance ClinVar PMID:25741868 PMID:28492532 NCBI chr13:39,781,929...39,824,456
Ensembl chr13:39,781,929...39,824,456 		JBrowse link
Lactose Intolerance, Adult Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm6 minichromosome maintenance complex component 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ADULT LACTASE DEFICIENCY | ClinVar Annotator: match by term: Lactose intolerance, adult type		 OMIM
CTD
ClinVar		 PMID:25741868 NCBI chr13:39,826,745...39,851,937
Ensembl chr13:39,826,763...39,851,960 		JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5h1orf167 similar to human chromosome 1 open reading frame 167 ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr 5:158,495,514...158,505,671 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
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
methylmalonic acidemia and homocysteinemia cblX type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Hcfc1 host cell factor C1 ISO
ISS		 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
OMIM:309541
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:22922874 PMID:23141461 PMID:25234635 PMID:25741868 PMID:28492532 More... NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276 		JBrowse link
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr 6:45,103,838...45,179,040
Ensembl chr 6:45,061,553...45,178,046 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase ClinVar PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 PMID:25741868 More... NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO
ISS		 ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
OMIM:277400
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601 		JBrowse link
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:16199547 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 More... NCBI chr 3:34,708,649...34,726,554
Ensembl chr 3:34,708,649...34,726,771 		JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856 		JBrowse link
G Thap11 THAP domain containing 11 ISS OMIM:277400 MouseDO NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540 		JBrowse link
methylmalonic aciduria and homocystinuria type cblD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmadhc metabolism of cobalamin associated D ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2		 OMIM
CTD
ClinVar		 PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 More... NCBI chr 3:34,708,649...34,726,554
Ensembl chr 3:34,708,649...34,726,771 		JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087 		JBrowse link
methylmalonic aciduria and homocystinuria type cblF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col19a1 collagen type XIX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 9:26,673,916...27,022,139
Ensembl chr 9:26,675,391...27,022,106 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213 		JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19136951 PMID:21303734 More... NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090 		JBrowse link
methylmalonic aciduria and homocystinuria type cblG term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG		 CTD
OMIM
ClinVar		 PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 More... NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276 		JBrowse link
microvillus inclusion disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 ISS OMIM:251850 MouseDO NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111 		JBrowse link
G Myo5b myosin Vb ISO
ISS		 ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy | ClinVar Annotator: match by term: MYO5B-related condition
OMIM:251850
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18724368 PMID:19006234 More... NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745 		JBrowse link
Microvillus Inclusion Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx3 syntaxin 3 ISO ClinVar Annotator: match by term: Diarrhea 12, with microvillus atrophy OMIM
ClinVar		 PMID:24726755 PMID:28492532 PMID:29282386 NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805 		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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
Primary Bile Acid Malabsorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a2 solute carrier family 10 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475 		JBrowse link
Primary Bile Acid Malabsorption 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Bile acid malabsorption, primary, 1 | ClinVar Annotator: match by term: SLC10A2-related condition OMIM
ClinVar		 PMID:9109432 PMID:9536098 PMID:16541252 PMID:17576681 PMID:19653651 More... NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475 		JBrowse link
Primary Bile Acid Malabsorption 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rasl12 RAS-like, family 12 ISO ClinVar Annotator: match by term: Bile acid malabsorption, primary, 2 ClinVar PMID:25741868 PMID:28898457 NCBI chr 8:65,917,840...65,931,885
Ensembl chr 8:65,917,840...65,932,741 		JBrowse link
G Slc51b SLC51 subunit beta ISO ClinVar Annotator: match by term: Bile acid malabsorption, primary, 2 OMIM
ClinVar		 PMID:25741868 PMID:28898457 NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145 		JBrowse link
Retinal Dystrophy and Microvillus Inclusion Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx3 syntaxin 3 ISO ClinVar Annotator: match by term: Retinal dystrophy and microvillus inclusion disease OMIM
ClinVar		 NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805 		JBrowse link
short bowel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clmp CXADR-like membrane protein ISO ClinVar Annotator: match by term: Congenital short bowel syndrome, autosomal recessive OMIM
ClinVar		 PMID:16707984 PMID:18209785 PMID:22155368 PMID:25741868 PMID:27352967 More... NCBI chr 8:41,060,527...41,168,841
Ensembl chr 8:41,060,799...41,168,838 		JBrowse link
G Insr insulin receptor treatment IEP RGD PMID:19847442 RGD:10403044 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Lep leptin IDA RGD PMID:19730157 RGD:5128624 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepr leptin receptor IEP mRNA:increased expression:small intestine RGD PMID:19730157 RGD:5128624 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
Whipple disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd163 CD163 molecule ISO protein:increased expression:duodenum, macrophage (human) RGD PMID:19664628 RGD:149735573 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Malabsorption Syndromes 214
        Collagenous Sprue 0
        Glucose-Galactose Malabsorption 5
        Imerslund-Grasbeck Syndrome + 12
        Lysine Malabsorption Syndrome 0
        Microvillus Inclusion Disease 2 1
        Steatorrhea + 3
        Whipple disease + 1
        blind loop syndrome 0
        celiac disease + 56
        chylomicron retention disease 3
        congenital diarrhea 5 with tufting enteropathy 1
        congenital malabsorptive diarrhea 4 1
        hereditary folate malabsorption 2
        hyperhomocysteinemia + 126
        lactose intolerance + 2
        microvillus inclusion disease + 3
        short bowel syndrome 4
        tropical sprue 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      gastrointestinal system disease 7095
        intestinal disease 3077
          Malabsorption Syndromes 214
            Collagenous Sprue 0
            Glucose-Galactose Malabsorption 5
            Imerslund-Grasbeck Syndrome + 12
            Lysine Malabsorption Syndrome 0
            Microvillus Inclusion Disease 2 1
            Steatorrhea + 3
            Whipple disease + 1
            blind loop syndrome 0
            celiac disease + 56
            chylomicron retention disease 3
            congenital diarrhea 5 with tufting enteropathy 1
            congenital malabsorptive diarrhea 4 1
            hereditary folate malabsorption 2
            hyperhomocysteinemia + 126
            lactose intolerance + 2
            microvillus inclusion disease + 3
            short bowel syndrome 4
            tropical sprue 0
paths to the root