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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:diarrhea
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Accession:DOID:13250 term browser browse the term
Definition:A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. (DO)
Synonyms:exact_synonym: diarrheas;   diarrhoea
 related_synonym: diarrhea of presumed infectious origin
 primary_id: MESH:D003967
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
diarrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32387182 NCBI chrNW_004624737:11,593,701...11,686,790
Ensembl chrNW_004624737:11,593,864...11,688,460 		JBrowse link
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21596674 NCBI chrNW_004624743:33,372,023...33,374,438
Ensembl chrNW_004624743:33,367,898...33,373,922 		JBrowse link
G Cnr2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27611972 NCBI chrNW_004624764:8,388,375...8,422,961
Ensembl chrNW_004624764:8,389,444...8,390,538 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7543699 NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:25741868 PMID:28492532 PMID:30237576 NCBI chrNW_004624735:12,525,120...12,535,436
Ensembl chrNW_004624735:12,525,284...12,535,193 		JBrowse link
G Gucy2c guanylate cyclase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22436048 NCBI chrNW_004624752:23,285,987...23,357,662
Ensembl chrNW_004624752:23,286,093...23,357,662 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:9278552 NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:20844880 NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890 		JBrowse link
G Lct lactase ISO RGD PMID:15977434 RGD:1600253 NCBI chrNW_004624732:35,125,995...35,177,055
Ensembl chrNW_004624732:35,125,287...35,175,062 		JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chrNW_004624730:74,636,554...74,656,817
Ensembl chrNW_004624730:74,636,522...74,656,886 		JBrowse link
G Mme membrane metalloendopeptidase treatment ISO RGD PMID:3481337 RGD:13801042 NCBI chrNW_004624730:32,601,835...32,691,368
Ensembl chrNW_004624730:32,601,488...32,689,080 		JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO RGD PMID:20624890 RGD:150520020 NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489 		JBrowse link
G Myo5b myosin VB ISO CTD Direct Evidence: marker/mechanism CTD PMID:18724368 NCBI chrNW_004624778:13,352,285...13,740,621
Ensembl chrNW_004624778:13,347,705...13,740,767 		JBrowse link
G Nfkbia NFKB inhibitor alpha ameliorates ISO human gene in a mouse model RGD PMID:20008138 RGD:126925947 NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:20301475 PMID:22842227 PMID:22842229 PMID:22842230 PMID:22842231 More... NCBI chrNW_004624818:2,575,476...2,591,423
Ensembl chrNW_004624818:2,573,498...2,580,095 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:23010199 PMID:25741868 PMID:28492532 PMID:28667292 NCBI chrNW_004624896:2,163,043...2,432,016
Ensembl chrNW_004624896:2,163,468...2,415,432 		JBrowse link
G Pyy peptide YY ISO CTD Direct Evidence: therapeutic CTD PMID:19925840 NCBI chrNW_004624795:887,963...903,315
Ensembl chrNW_004624795:902,260...903,409 		JBrowse link
G Rasl12 RAS like family 12 ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:25741868 PMID:28898457 NCBI chrNW_004624781:7,430,693...7,442,687
Ensembl chrNW_004624781:7,430,793...7,442,614 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 More... NCBI chrNW_004624801:9,287,776...9,297,164
Ensembl chrNW_004624801:9,285,806...9,297,151 		JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO DNA:frameshift mutation, missense mutations RGD PMID:8896562 RGD:1600011 NCBI chrNW_004624739:21,979,164...22,004,794
Ensembl chrNW_004624739:21,979,172...22,004,716 		JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26564064 NCBI chrNW_004624751:254,373...290,218
Ensembl chrNW_004624751:256,305...291,178 		JBrowse link
congenital diarrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grwd1 glutamate rich WD repeat containing 1 ISO ClinVar Annotator: match by term: Congenital diarrhea ClinVar PMID:25741868 NCBI chrNW_004624832:5,354,259...5,360,171
Ensembl chrNW_004624832:5,354,176...5,360,233 		JBrowse link
G Mon1a MON1 homolog A, secretory trafficking associated ISO ClinVar Annotator: match by term: Congenital diarrhea ClinVar PMID:25741868 NCBI chrNW_004624730:3,818,653...3,833,697
Ensembl chrNW_004624730:3,821,485...3,841,452 		JBrowse link
G Myo1a myosin IA ISO ClinVar Annotator: match by term: Congenital diarrhea ClinVar PMID:24033266 PMID:25741868 NCBI chrNW_004624802:10,892,685...10,913,953
Ensembl chrNW_004624802:10,892,774...10,913,952 		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 ClinVar Annotator: match by term: Congenital diarrhea 5 with tufting enteropathy | ClinVar Annotator: match by term: Congenital tufting enteropathy | ClinVar Annotator: match by term: EPCAM-related condition | ClinVar Annotator: match by term: INTESTINAL EPITHELIAL CELL DYSPLASIA OMIM
ClinVar		 PMID:18572020 PMID:19820410 PMID:20034091 PMID:20981223 PMID:21315192 More... NCBI chrNW_004624738:28,755,039...28,770,160
Ensembl chrNW_004624738:28,754,602...28,770,758 		JBrowse link
congenital diarrhea 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH12orf60 chromosome unknown C12orf60 homolog ISO ClinVar Annotator: match by term: Congenital diarrhea 6 ClinVar PMID:22436048 PMID:25741868 NCBI chrNW_004624752:23,198,069...23,198,797 JBrowse link
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Congenital diarrhea 6 | ClinVar Annotator: match by term: GUCY2C-related condition OMIM
ClinVar		 PMID:16199547 PMID:22436048 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624752:23,285,987...23,357,662
Ensembl chrNW_004624752:23,286,093...23,357,662 		JBrowse link
congenital diarrhea 7 with exudative enteropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy | ClinVar Annotator: match by term: DGAT1-related condition | ClinVar Annotator: match by term: Diarrhea 7 OMIM
ClinVar		 PMID:16199547 PMID:23114594 PMID:25326635 PMID:25741868 PMID:26883093 More... NCBI chrNW_004624735:12,525,120...12,535,436
Ensembl chrNW_004624735:12,525,284...12,535,193 		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 ClinVar Annotator: match by term: Congenital malabsorptive diarrhea 4 | ClinVar Annotator: match by term: DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS AND COMBINED PITUITARY HORMONE DEFICIENCY | ClinVar Annotator: match by term: ENTERIC ANENDOCRINOSIS OMIM
ClinVar		 PMID:16855267 PMID:21490072 PMID:24033266 PMID:24134759 PMID:25120094 More... NCBI chrNW_004624754:3,817,400...3,818,047 JBrowse link
congenital secretory chloride diarrhea 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Congenital secretory diarrhea, chloride type ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624752:23,285,987...23,357,662
Ensembl chrNW_004624752:23,286,093...23,357,662 		JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE | ClinVar Annotator: match by term: Congenital secretory diarrhea, chloride type | ClinVar Annotator: match by term: Darrow-Gamble disease | ClinVar Annotator: match by term: SLC26A3-related condition OMIM
ClinVar		 PMID:8896562 PMID:9554749 PMID:9718329 PMID:9886994 PMID:10671059 More... NCBI chrNW_004624739:21,979,164...22,004,794
Ensembl chrNW_004624739:21,979,172...22,004,716 		JBrowse link
congenital secretory sodium diarrhea 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spint2 serine peptidase inhibitor, Kunitz type 2 ISO ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 3 | ClinVar Annotator: match by term: Congenital sodium diarrhea | ClinVar Annotator: match by term: SPINT2-related condition OMIM
ClinVar		 PMID:9536098 PMID:11113072 PMID:17576681 PMID:17786112 PMID:19185281 More... NCBI chrNW_004624794:11,738,137...11,765,579
Ensembl chrNW_004624794:11,738,487...11,769,117 		JBrowse link
congenital secretory sodium diarrhea 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 8 | ClinVar Annotator: match by term: SLC9A3-related condition OMIM
ClinVar		 PMID:3880821 PMID:16199547 PMID:25741868 PMID:26358773 PMID:28492532 More... NCBI chrNW_004624751:254,373...290,218
Ensembl chrNW_004624751:256,305...291,178 		JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type 2 ISO ClinVar Annotator: match by term: Congenital sodium diarrhea ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624794:11,738,137...11,765,579
Ensembl chrNW_004624794:11,738,487...11,769,117 		JBrowse link
DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plvap plasmalemma vesicle associated protein ISO ClinVar Annotator: match by term: Diarrhea 10, protein-losing enteropathy type | ClinVar Annotator: match by term: PLVAP-related condition OMIM
ClinVar		 PMID:25741868 PMID:26207260 PMID:28492532 PMID:29661969 PMID:29875123 NCBI chrNW_004624908:602,388...613,445
Ensembl chrNW_004624908:601,687...614,975 		JBrowse link
Diarrhea 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl5 acyl-CoA synthetase long chain family member 5 ISO ClinVar Annotator: match by term: Diarrhea 13 OMIM
ClinVar		 PMID:33191500 NCBI chrNW_004624737:34,038,610...34,091,579
Ensembl chrNW_004624737:34,038,518...34,091,661 		JBrowse link
Diarrhea 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Chronic diarrhea ClinVar PMID:25741868 NCBI chrNW_004624816:6,329,888...6,521,535
Ensembl chrNW_004624816:6,332,612...6,521,535 		JBrowse link
G St7l suppression of tumorigenicity 7 like ISO ClinVar Annotator: match by term: WNT2B-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624772:8,310,441...8,408,200
Ensembl chrNW_004624772:8,335,458...8,407,591 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic diarrhea ClinVar PMID:25346280 PMID:25741868 PMID:28492532 PMID:30523342 PMID:30791107 NCBI chrNW_004624751:624,569...647,198 JBrowse link
G Wnt2b Wnt family member 2B ISO ClinVar Annotator: match by term: Diarrhea 9 | ClinVar Annotator: match by term: WNT2B-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29909964 NCBI chrNW_004624772:8,305,042...8,319,882
Ensembl chrNW_004624772:8,304,708...8,319,349 		JBrowse link
functional diarrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fos Fos proto-oncogene, AP-1 transcription factor subunit treatment ISO RGD PMID:31368281 RGD:405650608 NCBI chrNW_004624734:26,424,053...26,427,431
Ensembl chrNW_004624734:26,423,079...26,427,732 		JBrowse link
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:1,759,148...1,767,831
Ensembl chrNW_004624893:1,759,045...1,767,918 		JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624978:99,605...110,645
Ensembl chrNW_004624978:100,505...110,646 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:3,014,535...3,020,862
Ensembl chrNW_004624893:3,014,989...3,021,746 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:945,378...968,041
Ensembl chrNW_004624893:945,436...970,431 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:824,834...841,786
Ensembl chrNW_004624893:831,833...841,884 		JBrowse link
G Ccdc22 CCC complex scaffolding subunit CCDC22 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:19471859 PMID:28492532 PMID:30443250 NCBI chrNW_004624893:971,688...1,008,460
Ensembl chrNW_004624893:971,645...998,886 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:1,775,726...1,861,925
Ensembl chrNW_004624893:1,788,915...1,862,015 		JBrowse link
G Cdk16 cyclin dependent kinase 16 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624887:3,986,218...3,998,379
Ensembl chrNW_004624887:3,986,217...3,999,000 		JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624978:180,352...194,467
Ensembl chrNW_004624978:184,286...190,970 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:1,390,417...1,581,457
Ensembl chrNW_004624893:1,390,344...1,577,110 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:1,892,511...2,081,634
Ensembl chrNW_004624893:1,896,083...2,081,503 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human) RGD PMID:29058101 RGD:40886273 NCBI chrNW_004624736:4,959,482...5,195,182
Ensembl chrNW_004624736:4,959,634...5,193,928 		JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:340,843...346,560
Ensembl chrNW_004624893:341,129...347,717 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624978:194,985...208,105
Ensembl chrNW_004624978:194,992...208,103 		JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:631,033...632,244 JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome OMIM
ClinVar		 PMID:3375136 PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 More... NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679 		JBrowse link
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:297,312...308,772
Ensembl chrNW_004624893:299,020...303,773 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:595,948...602,980
Ensembl chrNW_004624893:595,967...602,979 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:562,815...570,099
Ensembl chrNW_004624893:562,330...574,594 		JBrowse link
G Gpkow G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:871,163...879,709
Ensembl chrNW_004624893:871,355...879,674 		JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:753,111...778,563
Ensembl chrNW_004624893:753,111...778,539 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:608,744...627,600
Ensembl chrNW_004624893:608,540...628,580 		JBrowse link
G Jade3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624887:3,712,530...3,872,416
Ensembl chrNW_004624887:3,808,785...3,872,416 		JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:739,980...752,924
Ensembl chrNW_004624893:739,977...751,415 		JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:906,203...909,555
Ensembl chrNW_004624893:906,015...909,610 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624887:3,919,109...3,921,643
Ensembl chrNW_004624887:3,918,432...3,921,348 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:702,895...736,623 JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:632,514...636,656
Ensembl chrNW_004624893:632,930...636,664 		JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:694,944...700,068
Ensembl chrNW_004624893:694,928...700,062 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:913,106...916,263
Ensembl chrNW_004624893:913,105...916,282 		JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:327,801...339,879
Ensembl chrNW_004624893:327,587...339,877 		JBrowse link
G Ppp1r3f protein phosphatase 1 regulatory subunit 3F ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:1,012,976...1,030,380
Ensembl chrNW_004624893:1,013,509...1,030,441 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:680,929...684,251
Ensembl chrNW_004624893:681,167...684,251 		JBrowse link
G Praf2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:842,293...845,494
Ensembl chrNW_004624893:842,071...846,170 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:916,340...927,128
Ensembl chrNW_004624893:913,755...927,122 		JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624887:3,921,934...3,953,739
Ensembl chrNW_004624887:3,923,986...3,957,133 		JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:403,831...407,772
Ensembl chrNW_004624893:403,916...411,708 		JBrowse link
G Rgn regucalcin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624887:3,881,624...3,900,144
Ensembl chrNW_004624887:3,883,213...3,899,277 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624887:3,647,607...3,684,383
Ensembl chrNW_004624887:3,647,524...3,684,618 		JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:2,373,847...2,660,122
Ensembl chrNW_004624893:2,373,815...2,660,199 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:684,307...694,113
Ensembl chrNW_004624893:684,481...694,130 		JBrowse link
G Slc38a5 solute carrier family 38 member 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:275,906...284,883
Ensembl chrNW_004624893:275,820...284,696 		JBrowse link
G Slc9a7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624887:3,403,764...3,563,699
Ensembl chrNW_004624887:3,408,109...3,563,639 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:499,222...512,341
Ensembl chrNW_004624893:498,973...512,443 		JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624978:110,640...179,910
Ensembl chrNW_004624978:110,506...180,568 		JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:929,460...942,806
Ensembl chrNW_004624893:928,099...942,903 		JBrowse link
G Tbc1d25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:364,004...390,517
Ensembl chrNW_004624893:363,688...393,301 		JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:803,717...817,700
Ensembl chrNW_004624893:803,717...817,705 		JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17B ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:675,859...680,974
Ensembl chrNW_004624893:675,859...680,889 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912 		JBrowse link
G Uba1 ubiquitin like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624887:3,961,699...3,983,772
Ensembl chrNW_004624887:3,963,871...3,984,243 		JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624887:4,001,444...4,018,175
Ensembl chrNW_004624887:4,000,739...4,018,301 		JBrowse link
G Usp27x ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:1,314,670...1,329,823
Ensembl chrNW_004624893:1,314,670...1,329,853 		JBrowse link
G Uxt ubiquitously expressed prefoldin like chaperone ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624978:209,222...216,909
Ensembl chrNW_004624978:208,432...217,497 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:453,793...493,696
Ensembl chrNW_004624893:487,396...493,482 		JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:422,964...434,475
Ensembl chrNW_004624893:422,872...431,515 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624893:845,689...852,221
Ensembl chrNW_004624893:845,701...852,244 		JBrowse link
G Znf157 zinc finger protein 157 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624887:4,117,433...4,149,442
Ensembl chrNW_004624887:4,117,635...4,149,416 		JBrowse link
G Znf41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624887:4,276,293...4,292,722 JBrowse link
G Znf81 zinc finger protein 81 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004624978:291,506...393,153
Ensembl chrNW_004624978:291,491...383,802 		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 ISO OMIM:251850 MouseDO NCBI chrNW_004624764:6,874,453...6,891,952 JBrowse link
G Myo5b myosin VB ISO ClinVar Annotator: match by term: Congenital familial protracted diarrhea with enterocyte brush-border abnormalities | 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
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18724368 PMID:19006234 More... NCBI chrNW_004624778:13,352,285...13,740,621
Ensembl chrNW_004624778:13,347,705...13,740,767 		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 | ClinVar Annotator: match by term: STX3-related condition OMIM
ClinVar		 PMID:24726755 PMID:28492532 PMID:29282386 NCBI chrNW_004624864:1,054,130...1,091,071
Ensembl chrNW_004624864:1,054,284...1,090,398 		JBrowse link
Osteootohepatoenteric Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Osteootohepatoenteric syndrome | ClinVar Annotator: match by term: UNC45A-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086 NCBI chrNW_004624768:17,300,913...17,315,848
Ensembl chrNW_004624768:17,301,277...17,314,353 		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 ClinVar Annotator: match by term: Bile acid malabsorption, primary ClinVar PMID:9109432 PMID:16541252 PMID:19823678 PMID:21341987 PMID:21649730 More... NCBI chrNW_004624793:8,452,536...8,468,835
Ensembl chrNW_004624793:8,452,727...8,468,661 		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 chrNW_004624793:8,452,536...8,468,835
Ensembl chrNW_004624793:8,452,727...8,468,661 		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 Annotator: match by term: SLC51B-related condition ClinVar PMID:25741868 PMID:28492532 PMID:28898457 NCBI chrNW_004624781:7,430,693...7,442,687
Ensembl chrNW_004624781:7,430,793...7,442,614 		JBrowse link
RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agr2 anterior gradient 2, protein disulphide isomerase family member ISO ClinVar Annotator: match by term: Respiratory infections, recurrent, and failure to thrive with or without diarrhea OMIM
ClinVar		 PMID:25741868 PMID:34952832 NCBI chrNW_004624739:13,428,049...13,440,949
Ensembl chrNW_004624739:13,428,130...13,442,070 		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 chrNW_004624864:1,054,130...1,091,071
Ensembl chrNW_004624864:1,054,284...1,090,398 		JBrowse link
Trehalase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Treh trehalase ISO ClinVar Annotator: match by term: TREH-related condition | ClinVar Annotator: match by term: alpha, alpha-Trehalase deficiency OMIM
ClinVar		 PMID:25741868 PMID:28406212 NCBI chrNW_004624784:14,064,161...14,083,871
Ensembl chrNW_004624784:14,064,522...14,084,051 		JBrowse link
trichohepatoenteric syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nelfe negative elongation factor complex member E ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar PMID:25741868 NCBI chrNW_004624754:24,300,012...24,310,777
Ensembl chrNW_004624754:24,300,602...24,310,671 		JBrowse link
G Skic3 SKI3 subunit of superkiller complex ISO ClinVar Annotator: match by term: DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA | ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20176027 PMID:21120949 More... NCBI chrNW_004624743:14,111,237...14,197,726
Ensembl chrNW_004624743:14,110,991...14,198,267 		JBrowse link
trichohepatoenteric syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 ClinVar PMID:22284826 PMID:23266196 PMID:24088041 PMID:25208612 PMID:25326635 More... NCBI chrNW_004624765:21,572,797...21,666,424
Ensembl chrNW_004624765:21,572,714...21,668,516 		JBrowse link
G Skic3 SKI3 subunit of superkiller complex ISO ClinVar Annotator: match by term: SKIC3-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 OMIM
ClinVar		 PMID:16199547 PMID:20176027 PMID:21120949 PMID:23326254 PMID:23974064 More... NCBI chrNW_004624743:14,111,237...14,197,726
Ensembl chrNW_004624743:14,110,991...14,198,267 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    disease of anatomical entity 13936
      gastrointestinal system disease 6065
        diarrhea 104
          Chronic Diarrhea with Villous Atrophy 0
          DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE 1
          Infantile Diarrhea + 10
          Primary Bile Acid Malabsorption + 2
          RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA 1
          Satoyoshi Syndrome 0
          Trehalase Deficiency 1
          Vascular Hyalinosis 0
          acute diarrhea 0
          congenital diarrhea + 15
          functional diarrhea 1
          inflammatory diarrhea 0
          motility-related diarrhea 0
          osmotic diarrhea 0
          secretory diarrhea + 65
Path 2
Term Annotations click to browse term
  disease 14234
    Pathological Conditions, Signs and Symptoms 11245
      Signs and Symptoms 9471
        Digestive Signs and Symptoms 180
          diarrhea 104
            Chronic Diarrhea with Villous Atrophy 0
            DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE 1
            Infantile Diarrhea + 10
            Primary Bile Acid Malabsorption + 2
            RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA 1
            Satoyoshi Syndrome 0
            Trehalase Deficiency 1
            Vascular Hyalinosis 0
            acute diarrhea 0
            congenital diarrhea + 15
            functional diarrhea 1
            inflammatory diarrhea 0
            motility-related diarrhea 0
            osmotic diarrhea 0
            secretory diarrhea + 65
paths to the root