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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:Digestive Signs and Symptoms
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Accession:DOID:9003977 term browser browse the term
Definition:Digestive system manifestations of diseases of the gastrointestinal system or of other organs.
Synonyms:primary_id: MESH:D012817
 alt_id: RDO:0004763


show annotations for term's descendants           Sort by:
Abdominal Pain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Abdominal pain ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Abdominal pain ClinVar NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525 		JBrowse link
G Trpa1 transient receptor potential cation channel, subfamily A, member 1 ISO RGD PMID:24291101 RGD:10043376 NCBI chr 1:14,942,868...14,989,086
Ensembl chr 1:14,942,872...14,989,086 		JBrowse link
Anorexia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO RGD PMID:6534893 RGD:10047083 NCBI chr16:8,331,293...8,439,432
Ensembl chr16:8,331,293...8,439,432 		JBrowse link
G Cck cholecystokinin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22903826 PMID:24385417 NCBI chr 9:121,318,890...121,324,728
Ensembl chr 9:121,318,890...121,324,760 		JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16420149 PMID:12429558 RGD:704394 NCBI chr 3:19,747,565...19,749,560
Ensembl chr 3:19,747,565...19,749,560 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16420149 NCBI chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17627984 PMID:17050037 RGD:5131264 NCBI chr 6:55,067,033...55,110,001
Ensembl chr 6:55,067,034...55,110,001 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 susceptibility ISO DNA:SNP:promoter:g.-251A>T RGD PMID:24076593 RGD:150523788 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Dbh dopamine beta hydroxylase ISO RGD PMID:20554938 RGD:5129235 NCBI chr 2:27,055,519...27,073,216
Ensembl chr 2:27,055,245...27,073,212 		JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:21824258 PMID:28633506 NCBI chr 2:62,304,874...62,313,997
Ensembl chr 2:62,304,874...62,313,994 		JBrowse link
G Ghrl ghrelin ISO RGD PMID:15788704 RGD:1642818 NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841 		JBrowse link
G Gip gastric inhibitory polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:28633506 PMID:28666375 PMID:29689362 NCBI chr11:95,915,358...95,921,657
Ensembl chr11:95,915,371...95,921,657 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO associated with Uremia RGD PMID:12005352 RGD:11352773 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Htr1b 5-hydroxytryptamine (serotonin) receptor 1B ISO associated with Sarcoma;protein:increased expression:hypothalamus RGD PMID:15698923 RGD:1626473 NCBI chr 9:81,510,344...81,515,885
Ensembl chr 9:81,510,344...81,515,881 		JBrowse link
G Htr4 5 hydroxytryptamine (serotonin) receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146954 NCBI chr18:62,456,618...62,636,098
Ensembl chr18:62,457,275...62,629,648 		JBrowse link
G Il1a interleukin 1 alpha ISO associated with Sarcoma, Experimental;protein:increased expression:cerebrospinal fluid RGD PMID:8748250 RGD:7794755 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:hypothalamus
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12077204 PMID:25392278 PMID:22902858 RGD:13825124 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO associated with Adenocarcinoma;mRNA:increased expression:cerebral cortex, hypothalamus (rat)
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:25392278 PMID:9688694 RGD:8551744 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8635092 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Npsr1 neuropeptide S receptor 1 ISO RGD PMID:19821837 RGD:9835045 NCBI chr 9:24,009,212...24,229,151
Ensembl chr 9:24,009,292...24,227,694 		JBrowse link
G Npy neuropeptide Y ISO associated with Neoplasms
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16084549 PMID:16101753 PMID:25825358 PMID:17234300 RGD:10448965 NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487 		JBrowse link
G Npy1r neuropeptide Y receptor Y1 ISO associated with Neoplasms;mRNA, protein:decreased expression:hypothalamus RGD PMID:17234300 RGD:10448965 NCBI chr 8:67,149,595...67,159,452
Ensembl chr 8:67,149,844...67,159,444 		JBrowse link
G Oprl1 opioid receptor-like 1 treatment ISO RGD PMID:11981590 RGD:9835031 NCBI chr 2:181,356,585...181,362,778
Ensembl chr 2:181,356,809...181,362,778 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 treatment ISO RGD PMID:22902858 RGD:13825124 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Pyy peptide YY ISO CTD Direct Evidence: marker/mechanism CTD PMID:22903826 PMID:29689362 NCBI chr11:101,997,502...101,998,658
Ensembl chr11:101,997,502...101,998,658 		JBrowse link
G Tac1 tachykinin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30336258 NCBI chr 6:7,555,061...7,562,978
Ensembl chr 6:7,554,879...7,565,834 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25392278 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf10b tumor necrosis factor receptor superfamily, member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860 		JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO CTD Direct Evidence: therapeutic CTD PMID:18801959 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447 		JBrowse link
G Ucn2 urocortin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17627984 NCBI chr 9:108,815,231...108,816,232
Ensembl chr 9:108,815,078...108,816,232 		JBrowse link
Bulimia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cck cholecystokinin ISO RGD PMID:8988922 RGD:1625799 NCBI chr 9:121,318,890...121,324,728
Ensembl chr 9:121,318,890...121,324,760 		JBrowse link
G Ghrl ghrelin ISO RGD PMID:15788704 RGD:1642818 NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841 		JBrowse link
bulimia nervosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Comt catechol-O-methyltransferase susceptibility ISO DNA:SNPs,haplotype: RGD PMID:21300128 RGD:13451125 NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602 		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
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:613217		 OMIM
ClinVar
CTD
MouseDO		 PMID:18572020 PMID:19820410 PMID:20034091 PMID:21315192 PMID:23462293 More... NCBI chr17:87,943,407...87,958,555
Ensembl chr17:87,943,407...87,958,557 		JBrowse link
congenital diarrhea 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BC049715 cDNA sequence BC049715 ISO ClinVar Annotator: match by term: Congenital diarrhea 6 ClinVar PMID:22436048 PMID:25741868 NCBI chr 6:136,805,158...136,818,918
Ensembl chr 6:136,804,624...136,817,660 		JBrowse link
G Gucy2c guanylate cyclase 2c ISO ClinVar Annotator: match by term: Congenital diarrhea 6 OMIM
ClinVar		 PMID:22436048 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33883099 NCBI chr 6:136,674,282...136,758,740
Ensembl chr 6:136,674,282...136,758,763 		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: Diarrhea 7 OMIM
ClinVar		 PMID:16199547 PMID:23114594 PMID:25326635 PMID:25741868 PMID:25741913 More... NCBI chr15:76,386,215...76,396,167
Ensembl chr15:76,386,215...76,396,153 		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 chr10:61,968,869...61,970,542
Ensembl chr10:61,968,869...61,970,542 		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 chr 6:136,674,282...136,758,740
Ensembl chr 6:136,674,282...136,758,763 		JBrowse link
G Slc26a3 solute carrier family 26, member 3 ISO
IAGP		 ClinVar Annotator: match by term: Congenital secretory diarrhea, chloride type | ClinVar Annotator: match by term: SLC26A3-related condition
CTD Direct Evidence: marker/mechanism
OMIM:214700		 OMIM
ClinVar
CTD
MouseDO		 PMID:8896562 PMID:9554749 PMID:9718329 PMID:9886994 PMID:10671059 More... NCBI chr12:31,483,141...31,523,921
Ensembl chr12:31,440,870...31,523,916 		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 protease inhibitor, Kunitz type 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 3 | ClinVar Annotator: match by term: Congenital sodium diarrhea		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11113072 PMID:17576681 PMID:17786112 PMID:19185281 More... NCBI chr 7:28,955,755...28,981,484
Ensembl chr 7:28,955,748...28,981,337 		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 (sodium/hydrogen exchanger), member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 8		 OMIM
CTD
ClinVar		 PMID:3880821 PMID:25741868 PMID:26358773 PMID:28492532 PMID:30633106 More... NCBI chr13:74,234,374...74,317,561
Ensembl chr13:74,269,576...74,317,561 		JBrowse link
G Spint2 serine protease inhibitor, Kunitz type 2 ISO ClinVar Annotator: match by term: Congenital sodium diarrhea ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:28,955,755...28,981,484
Ensembl chr 7:28,955,748...28,981,337 		JBrowse link
Constipation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:12107204 NCBI chr 2:62,304,874...62,313,997
Ensembl chr 2:62,304,874...62,313,994 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23041323 NCBI chr 1:74,316,269...74,318,868
Ensembl chr 1:74,317,709...74,318,783 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO mRNA, protein:decreased expression:colon RGD PMID:33792838 RGD:152025536 NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
G Kitl kit ligand ISO mRNA, protein:decreased expression:colon RGD PMID:33792838 RGD:152025536 NCBI chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278 		JBrowse link
G Mir222 microRNA 222 ISO RNA:increased expression:colon RGD PMID:33792838 RGD:152025536 NCBI chr  X:19,013,132...19,013,210
Ensembl chr  X:19,013,132...19,013,210 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27192616 NCBI chr10:6,708,593...6,988,209
Ensembl chr10:6,708,506...6,988,198 		JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: therapeutic CTD PMID:3421781 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19022366 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Constipation ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679 		JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide ISO ClinVar Annotator: match by term: Constipation ClinVar PMID:25741868 PMID:28492532 PMID:31926053 NCBI chr 5:135,937,233...135,963,495
Ensembl chr 5:135,937,263...135,963,470 		JBrowse link
Cyclic Vomiting Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: Cyclic vomiting syndrome ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750 		JBrowse link
diarrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:32387182 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Abcc2 ATP-binding cassette, sub-family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32387182 NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:32387182 NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661 		JBrowse link
G Cd14 CD14 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:21596674 NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851 		JBrowse link
G Cnr2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27611972 NCBI chr 4:135,622,500...135,647,530
Ensembl chr 4:135,622,705...135,647,518 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: marker/mechanism CTD PMID:7543699 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:76,386,215...76,396,167
Ensembl chr15:76,386,215...76,396,153 		JBrowse link
G Gucy2c guanylate cyclase 2c ISO CTD Direct Evidence: marker/mechanism CTD PMID:22436048 NCBI chr 6:136,674,282...136,758,740
Ensembl chr 6:136,674,282...136,758,763 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:9278552 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:20844880 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Lct lactase ISO RGD PMID:15977434 RGD:1600253 NCBI chr 1:128,212,493...128,256,055
Ensembl chr 1:128,212,493...128,256,055 		JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr 9:110,848,360...110,871,834
Ensembl chr 9:110,848,339...110,871,835 		JBrowse link
G Mir150 microRNA 150 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26937033 NCBI chr 7:44,771,181...44,771,245
Ensembl chr 7:44,771,181...44,771,245 		JBrowse link
G Mme membrane metallo endopeptidase treatment ISO RGD PMID:3481337 RGD:13801042 NCBI chr 3:63,202,632...63,291,134
Ensembl chr 3:63,148,958...63,293,451 		JBrowse link
G Myd88 myeloid differentiation primary response gene 88 IMP RGD PMID:20624890 RGD:150520020 NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477 		JBrowse link
G Myo5b myosin VB ISO CTD Direct Evidence: marker/mechanism CTD PMID:18724368 NCBI chr18:74,575,435...74,905,769
Ensembl chr18:74,574,007...74,904,564 		JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha ameliorates ISO human gene in a mouse model RGD PMID:20008138 RGD:126925947 NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432 		JBrowse link
G Oca2 oculocutaneous albinism II ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:23010199 PMID:25741868 PMID:28492532 PMID:28667292 NCBI chr 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266 		JBrowse link
G Pyy peptide YY ISO CTD Direct Evidence: therapeutic CTD PMID:19925840 NCBI chr11:101,997,502...101,998,658
Ensembl chr11:101,997,502...101,998,658 		JBrowse link
G Rasl12 RAS-like, family 12 ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:25741868 PMID:28898457 NCBI chr 9:65,305,766...65,323,420
Ensembl chr 9:65,305,788...65,322,135 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase (sulfamidase) ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 More... NCBI chr11:119,234,315...119,246,336
Ensembl chr11:119,234,251...119,246,362 		JBrowse link
G Slc26a3 solute carrier family 26, member 3 ISO DNA:frameshift mutation, missense mutations RGD PMID:8896562 RGD:1600011 NCBI chr12:31,483,141...31,523,921
Ensembl chr12:31,440,870...31,523,916 		JBrowse link
G Slc51b solute carrier family 51, beta subunit ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:25741868 PMID:28898457 NCBI chr 9:65,320,035...65,330,055
Ensembl chr 9:65,319,996...65,330,237 		JBrowse link
G Slc9a3 solute carrier family 9 (sodium/hydrogen exchanger), member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26564064 NCBI chr13:74,234,374...74,317,561
Ensembl chr13:74,269,576...74,317,561 		JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:25741868 PMID:35575086 NCBI chr 7:79,975,040...79,990,748
Ensembl chr 7:79,975,040...79,997,741 		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 OMIM
ClinVar		 PMID:25741868 PMID:26207260 PMID:29661969 PMID:29875123 NCBI chr 8:71,950,397...71,964,446
Ensembl chr 8:71,950,409...71,964,396 		JBrowse link
Diarrhea 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC115253421 intestine-critical region regulatory element ISO ClinVar Annotator: match by term: Diarrhea 11, malabsorptive, congenital ClinVar PMID:31217582 NCBI chr17:25,394,006...25,395,517 JBrowse link
G Percc1 proline and glutamate rich with coiled coil 1 ISO ClinVar Annotator: match by term: Diarrhea 11, malabsorptive, congenital OMIM
ClinVar		 PMID:25741868 PMID:31217582 NCBI chr17:25,390,128...25,399,792
Ensembl chr17:25,391,871...25,394,445 		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 chr19:55,240,298...55,285,060
Ensembl chr19:55,240,370...55,286,152 		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 chr15:96,185,403...96,303,344
Ensembl chr15:96,185,399...96,302,873 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic diarrhea ClinVar PMID:25741868 PMID:28492532 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Wnt2b wingless-type MMTV integration site family, member 2B ISO ClinVar Annotator: match by term: Diarrhea 9 ClinVar
OMIM		 PMID:29909964 NCBI chr 3:104,852,121...104,869,025
Ensembl chr 3:104,852,588...104,869,237 		JBrowse link
Dyspepsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crh corticotropin releasing hormone ISO protein:increased expression:central nucleus of amygdala, paraventricular hypothalamic nucleus (rat) RGD PMID:21589865 RGD:5490556 NCBI chr 3:19,747,565...19,749,560
Ensembl chr 3:19,747,565...19,749,560 		JBrowse link
G Htr3a 5-hydroxytryptamine (serotonin) receptor 3A ISO DNA:SNP:promoter:c.-42C>T(human) RGD PMID:22014438 RGD:6480658 NCBI chr 9:48,810,513...48,822,451
Ensembl chr 9:48,810,513...48,822,399 		JBrowse link
G Ifng interferon gamma treatment ISO RGD PMID:28854971 RGD:14975120 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il10 interleukin 10 no_association ISO DNA:SNP:promoter:-819C>A (rs1800871)(human)
DNA:SNP:promoter:-1082G>A (rs1800896)(human)		 RGD PMID:28965252 PMID:28965252 RGD:14975154, RGD:14975154 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Slc6a4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 susceptibility ISO DNA:polymorphism: :
DNA:haplotypes, multiple:		 RGD PMID:22014438 PMID:24720453 RGD:6480658, RGD:36947385 NCBI chr11:76,889,423...76,923,169
Ensembl chr11:76,889,429...76,923,166 		JBrowse link
Extraoral Halitosis due to Methanethiol Oxidase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Extraoral halitosis due to methanethiol oxidase deficiency ClinVar
OMIM		 PMID:25741868 PMID:29255262 NCBI chr 3:94,840,394...94,852,069
Ensembl chr 3:94,840,367...94,852,069 		JBrowse link
FG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19200522 RGD:11576290 NCBI chr  X:13,383,319...13,713,020
Ensembl chr  X:13,383,319...13,717,606 		JBrowse link
G Flna filamin, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human)		 CTD
ClinVar
RGD		 PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... RGD:12910952, RGD:12910948 NCBI chr  X:100,317,697...100,342,540
Ensembl chr  X:100,317,636...100,341,071 		JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,297,855...100,304,479
Ensembl chr  X:100,298,134...100,304,479 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,419,982...100,429,235
Ensembl chr  X:100,419,984...100,429,235 		JBrowse link
G Gm614 predicted gene 614 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,304,979...100,307,598
Ensembl chr  X:100,304,982...100,307,598 		JBrowse link
G Il2rg interleukin 2 receptor, gamma chain ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,307,991...100,311,861
Ensembl chr  X:100,307,984...100,311,861 		JBrowse link
G Itgb1bp2 integrin beta 1 binding protein 2 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,492,694...100,520,391
Ensembl chr  X:100,492,694...100,497,147 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar		 PMID:6711603 PMID:8279489 PMID:9286458 PMID:9536098 PMID:10405444 More... NCBI chr  X:100,317,697...100,342,540
Ensembl chr  X:100,317,636...100,341,071 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,342,785...100,364,956
Ensembl chr  X:100,342,774...100,369,569 		JBrowse link
G Nono non-POU-domain-containing, octamer binding protein ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,473,295...100,492,193
Ensembl chr  X:100,472,924...100,492,197 		JBrowse link
G Slc7a3 solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,122,752...100,134,058
Ensembl chr  X:100,122,816...100,129,626 		JBrowse link
G Snx12 sorting nexin 12 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,132,973...100,266,185
Ensembl chr  X:100,141,392...100,266,169 		JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,576,335...100,644,635
Ensembl chr  X:100,576,340...100,645,395 		JBrowse link
G Tex11 testis expressed gene 11 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:99,882,254...100,103,245
Ensembl chr  X:99,882,254...100,103,273 		JBrowse link
G Zmym3 zinc finger, MYM-type 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,447,990...100,464,986
Ensembl chr  X:100,447,990...100,464,455 		JBrowse link
FG Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin, alpha ISO ClinVar Annotator: match by term: FG syndrome 2 OMIM
ClinVar		 PMID:10982489 PMID:12612583 PMID:16299064 PMID:16417552 PMID:16822260 More... NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
FG Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: CASK-Related Disorder | ClinVar Annotator: match by term: FG syndrome 4 OMIM
ClinVar		 PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More... NCBI chr  X:13,383,319...13,713,020
Ensembl chr  X:13,383,319...13,717,606 		JBrowse link
Halitosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Selenbp1 selenium binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255262 NCBI chr 3:94,840,394...94,852,069
Ensembl chr 3:94,840,367...94,852,069 		JBrowse link
Heartburn term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19566590 NCBI chr11:73,124,975...73,152,148
Ensembl chr11:73,125,118...73,152,068 		JBrowse link
Hyperemesis Gravidarum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf15 growth differentiation factor 15 susceptibility ISO ClinVar Annotator: match by term: Hyperemesis gravidarum, susceptibility to OMIM
ClinVar		 PMID:35218128 PMID:38092039 NCBI chr 8:71,082,043...71,085,106
Ensembl chr 8:71,082,043...71,085,106 		JBrowse link
Hyperphagia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agrp agouti related neuropeptide ISO associated with Diabetes Mellitus, Experimental;mRNA:increased expression:hypothalamus RGD PMID:11179781 RGD:2314004 NCBI chr 8:106,293,327...106,306,477
Ensembl chr 8:106,293,330...106,364,025 		JBrowse link
G Brs3 bombesin-like receptor 3 IMP RGD PMID:9367152 RGD:734661 NCBI chr  X:56,088,434...56,094,118
Ensembl chr  X:56,088,434...56,094,118 		JBrowse link
G Hcrt hypocretin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:27071101 PMID:12535169 RGD:1358429 NCBI chr11:100,652,519...100,653,757
Ensembl chr11:100,651,895...100,653,757 		JBrowse link
G Htr2a 5-hydroxytryptamine (serotonin) receptor 2A ISO RGD PMID:12392096 RGD:1624374 NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:17567960 RGD:10046043 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Igf1r insulin-like growth factor I receptor ISO RGD PMID:17567960 RGD:10046043 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G Il18 interleukin 18 IMP RGD PMID:16732281 RGD:14695532 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:12177191 PMID:25086370 PMID:26186301 PMID:27071101 NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876 		JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism
compared to age-matched lean +/fa rats		 CTD
RGD		 PMID:3519326 PMID:15093691 PMID:17229951 PMID:9843879 PMID:26537785 RGD:628910, RGD:12911216 NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549 		JBrowse link
G Mc4r melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23251400 NCBI chr18:66,990,776...66,993,558
Ensembl chr18:66,990,775...66,993,577 		JBrowse link
G Ntrk2 neurotrophic tyrosine kinase, receptor, type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15494731 NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784 		JBrowse link
G Oprd1 opioid receptor, delta 1 ISO RGD PMID:9808678 RGD:9831410 NCBI chr 4:131,834,980...131,872,042
Ensembl chr 4:131,838,037...131,871,797 		JBrowse link
G Oprk1 opioid receptor, kappa 1 ISO RGD PMID:9808678 RGD:9831410 NCBI chr 1:5,658,673...5,676,357
Ensembl chr 1:5,658,689...5,676,354 		JBrowse link
G Oprl1 opioid receptor-like 1 ISO RGD PMID:9808678 PMID:9669488 RGD:9831410, RGD:9835033 NCBI chr 2:181,356,585...181,362,778
Ensembl chr 2:181,356,809...181,362,778 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO RGD PMID:9808678 PMID:21368037 RGD:9831410, RGD:401901088 NCBI chr10:6,708,593...6,988,209
Ensembl chr10:6,708,506...6,988,198 		JBrowse link
G Penk preproenkephalin ISO RGD PMID:20603139 RGD:10003144 NCBI chr 4:4,133,536...4,138,815
Ensembl chr 4:4,133,531...4,138,819 		JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO DNA:mutations:multiple (human) RGD PMID:15189116 RGD:1357925 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642 		JBrowse link
G Ucp3 uncoupling protein 3 (mitochondrial, proton carrier) ISO RGD PMID:10935638 RGD:737762 NCBI chr 7:100,122,198...100,135,639
Ensembl chr 7:100,122,197...100,135,639 		JBrowse link
G Vgf VGF nerve growth factor inducible ISO CTD Direct Evidence: therapeutic CTD PMID:12177191 NCBI chr 5:137,054,156...137,062,205
Ensembl chr 5:137,055,246...137,062,205 		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 anchor protein 4 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:6,933,754...6,944,848
Ensembl chr  X:6,933,758...6,944,848 		JBrowse link
G Araf Araf 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 chr  X:20,663,946...20,726,760
Ensembl chr  X:20,664,053...20,726,758 		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 chr  X:6,226,108...6,232,778
Ensembl chr  X:6,226,161...6,232,775 		JBrowse link
G Btbd35f6 BTB domain containing 35, family member 6 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:33,392,137...33,394,056
Ensembl chr  X:33,392,507...33,394,003 		JBrowse link
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,473,342...7,501,435
Ensembl chr  X:7,473,322...7,501,435 		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 chr  X:7,597,953...7,607,563
Ensembl chr  X:7,597,953...7,617,144 		JBrowse link
G Ccdc22 coiled-coil domain containing 22 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 chr  X:7,460,048...7,471,659
Ensembl chr  X:7,460,048...7,471,756 		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 chr  X:6,845,890...6,907,894
Ensembl chr  X:6,845,891...6,907,858 		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 chr  X:20,554,210...20,566,119
Ensembl chr  X:20,554,193...20,566,119 		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 chr  X:20,791,693...20,797,794
Ensembl chr  X:20,791,693...20,797,794 		JBrowse link
G Clcn5 chloride channel, voltage-sensitive 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,020,049...7,185,597
Ensembl chr  X:7,020,049...7,185,597 		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 chr  X:6,691,103...6,814,602
Ensembl chr  X:6,690,410...6,814,602 		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 chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796 		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 chr  X:8,051,568...8,059,751
Ensembl chr  X:8,051,568...8,059,751 		JBrowse link
G Elk1 ELK1, member of ETS oncogene family ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,799,634...20,816,847
Ensembl chr  X:20,799,634...20,816,847 		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 chr  X:7,790,515...7,794,846
Ensembl chr  X:7,790,515...7,794,846 		JBrowse link
G Foxp3 forkhead box P3 ISO
IAGP		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
CTD Direct Evidence: marker/mechanism
OMIM:304790		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:3375136 PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 More... RGD:1598959 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		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 chr  X:8,104,907...8,118,609
Ensembl chr  X:8,104,907...8,118,645 		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 chr  X:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		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 chr  X:7,870,440...7,884,731
Ensembl chr  X:7,870,439...7,884,731 		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 chr  X:7,563,373...7,576,500
Ensembl chr  X:7,563,370...7,576,501 		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 chr  X:7,656,009...7,686,805
Ensembl chr  X:7,656,004...7,686,806 		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 chr  X:7,796,355...7,814,284
Ensembl chr  X:7,796,359...7,814,128 		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 chr  X:20,291,611...20,386,178
Ensembl chr  X:20,291,927...20,386,178 		JBrowse link
G Kcnd1 potassium voltage-gated channel, Shal-related family, member 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,686,907...7,704,517
Ensembl chr  X:7,688,528...7,704,519 		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 chr  X:7,539,405...7,547,490
Ensembl chr  X:7,539,403...7,547,490 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,103,922...7,104,013
Ensembl chr  X:7,103,922...7,104,013 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,114,641...7,114,736
Ensembl chr  X:7,114,641...7,114,736 		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 chr  X:20,481,565...20,483,858
Ensembl chr  X:20,481,565...20,483,858 		JBrowse link
G Otud5 OTU domain containing 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,705,852...7,742,861
Ensembl chr  X:7,707,603...7,742,865 		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 chr  X:7,786,061...7,790,649
Ensembl chr  X:7,786,061...7,790,649 		JBrowse link
G Pim2 proviral integration site 2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,744,545...7,749,671
Ensembl chr  X:7,744,501...7,749,671 		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 chr  X:7,534,180...7,537,629
Ensembl chr  X:7,534,180...7,537,629 		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 chr  X:8,060,085...8,072,794
Ensembl chr  X:8,060,087...8,072,764 		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 chr  X:7,424,815...7,440,541
Ensembl chr  X:7,423,535...7,440,522 		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 chr  X:7,760,759...7,765,469
Ensembl chr  X:7,760,758...7,765,508 		JBrowse link
G Praf2 PRA1 domain family 2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,594,810...7,597,302
Ensembl chr  X:7,594,678...7,597,303 		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 chr  X:7,523,616...7,535,086
Ensembl chr  X:7,523,499...7,534,425 		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 chr  X:20,483,596...20,517,128
Ensembl chr  X:20,483,742...20,517,140 		JBrowse link
G Rbm3 RNA binding motif (RNP1, RRM) protein 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:8,005,214...8,012,119
Ensembl chr  X:8,005,214...8,012,119 		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 chr  X:20,413,980...20,428,328
Ensembl chr  X:20,416,026...20,428,328 		JBrowse link
G Rp2 retinitis pigmentosa 2 homolog ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,230,778...20,271,873
Ensembl chr  X:20,230,720...20,271,892 		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 chr  X:6,312,012...6,549,508
Ensembl chr  X:6,311,908...6,549,502 		JBrowse link
G Slc35a2 solute carrier family 35 (UDP-galactose transporter), member A2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,750,189...7,760,699
Ensembl chr  X:7,750,267...7,760,731 		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 chr  X:8,137,620...8,146,418
Ensembl chr  X:8,137,372...8,146,418 		JBrowse link
G Slc9a7 solute carrier family 9 (sodium/hydrogen exchanger), member 7 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:19,965,090...20,158,274
Ensembl chr  X:19,971,993...20,158,046 		JBrowse link
G Spaca5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,934,669...20,944,197
Ensembl chr  X:20,934,645...20,944,202 		JBrowse link
G Ssxa1 SSX member A1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,984,653...20,988,327
Ensembl chr  X:20,982,059...20,987,431 		JBrowse link
G Ssxb2 SSX member B2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:8,320,582...8,327,965
Ensembl chr  X:8,320,584...8,327,965 		JBrowse link
G Ssxb5 SSX member B5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:8,669,930...8,676,348
Ensembl chr  X:8,669,930...8,675,625 		JBrowse link
G Suv39h1 suppressor of variegation 3-9 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,927,401...7,940,994
Ensembl chr  X:7,927,410...7,940,999 		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 chr  X:20,726,750...20,787,157
Ensembl chr  X:20,726,750...20,787,243 		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 chr  X:7,504,819...7,519,495
Ensembl chr  X:7,504,710...7,519,495 		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 chr  X:8,020,709...8,042,420
Ensembl chr  X:8,020,711...8,042,420 		JBrowse link
G Tfe3 transcription factor E3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,628,769...7,641,441
Ensembl chr  X:7,628,799...7,641,441 		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 chr  X:7,765,575...7,773,891
Ensembl chr  X:7,765,596...7,776,168 		JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,736,524...20,740,972
Ensembl chr  X:20,736,405...20,740,974 		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 chr  X:20,524,660...20,549,420
Ensembl chr  X:20,524,565...20,549,418 		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 chr  X:20,570,148...20,586,778
Ensembl chr  X:20,570,145...20,586,778 		JBrowse link
G Usp27x ubiquitin specific peptidase 27, X chromosome ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,238,830...7,242,069
Ensembl chr  X:7,237,513...7,242,069 		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 chr  X:20,818,162...20,828,259
Ensembl chr  X:20,807,961...20,828,256 		JBrowse link
G Was Wiskott-Aldrich syndrome ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,947,705...7,956,730
Ensembl chr  X:7,947,692...7,956,737 		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 chr  X:7,989,540...7,999,134
Ensembl chr  X:7,989,540...7,999,131 		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 chr  X:7,588,212...7,594,439
Ensembl chr  X:7,580,572...7,594,445 		JBrowse link
G Zfp157 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 chr 5:138,439,721...138,459,162
Ensembl chr 5:138,439,730...138,458,956 		JBrowse link
G Zfp182 zinc finger protein 182 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,892,423...20,928,357
Ensembl chr  X:20,895,178...20,928,555 		JBrowse link
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cebpe CCAAT/enhancer binding protein epsilon ISO ClinVar Annotator: match by term: CEBPE-related condition | ClinVar Annotator: match by term: Pelger-Huet-like anomaly and episodic fever with abdominal pain OMIM
ClinVar		 PMID:4831644 PMID:25741868 PMID:28492532 PMID:31201888 NCBI chr14:54,947,823...54,949,604
Ensembl chr14:54,947,817...54,949,631 		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 IAGP OMIM:251850 MouseDO NCBI chr 4:137,047,011...137,085,007
Ensembl chr 4:137,047,007...137,085,031 		JBrowse link
G Myo5b myosin VB ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:251850		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18724368 PMID:19006234 More... NCBI chr18:74,575,435...74,905,769
Ensembl chr18:74,574,007...74,904,564 		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 chr19:11,752,482...11,798,933
Ensembl chr19:11,752,482...11,796,767 		JBrowse link
Nausea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21840870 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:3091246 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27192616 NCBI chr10:6,708,593...6,988,209
Ensembl chr10:6,708,506...6,988,198 		JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11141589 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10379864 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf10b tumor necrosis factor receptor superfamily, member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860 		JBrowse link
Obesity, Hyperphagia, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntrk2 neurotrophic tyrosine kinase, receptor, type 2 ISO ClinVar Annotator: match by term: NTRK2-related condition | ClinVar Annotator: match by term: Obesity, hyperphagia, and developmental delay
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15494731 PMID:25741868 PMID:27884935 PMID:28492532 PMID:29100083 NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086 NCBI chr 7:79,975,040...79,990,748
Ensembl chr 7:79,975,040...79,997,741 		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 chr 8:5,133,219...5,155,287
Ensembl chr 8:5,133,219...5,155,351 		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 chr 8:5,133,219...5,155,287
Ensembl chr 8:5,133,219...5,155,351 		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 9:65,305,766...65,323,420
Ensembl chr 9:65,305,788...65,322,135 		JBrowse link
G Slc51b solute carrier family 51, beta subunit ISO ClinVar Annotator: match by term: Bile acid malabsorption, primary, 2 OMIM
ClinVar		 PMID:25741868 PMID:28898457 NCBI chr 9:65,320,035...65,330,055
Ensembl chr 9:65,319,996...65,330,237 		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 ISO ClinVar Annotator: match by term: Respiratory infections, recurrent, and failure to thrive with or without diarrhea OMIM
ClinVar		 PMID:25741868 PMID:34952832 NCBI chr12:36,042,924...36,054,080
Ensembl chr12:36,042,906...36,054,086 		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 chr19:11,752,482...11,798,933
Ensembl chr19:11,752,482...11,796,767 		JBrowse link
Trehalase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Treh trehalase (brush-border membrane glycoprotein) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: alpha, alpha-Trehalase deficiency		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28406212 NCBI chr 9:44,584,530...44,597,602
Ensembl chr 9:44,584,530...44,597,602 		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, Rdbp ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar NCBI chr17:35,069,367...35,075,348
Ensembl chr17:35,069,367...35,075,348 		JBrowse link
G Skic2 SKI2 subunit of superkiller complex ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome		 CTD
ClinVar		 PMID:16199547 PMID:22444670 PMID:25741868 PMID:27050310 PMID:28492532 More... NCBI chr17:35,058,202...35,069,180
Ensembl chr17:35,058,204...35,069,186 		JBrowse link
G Skic3 SKI3 subunit of superkiller complex ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome		 CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:20176027 PMID:21120949 PMID:24033266 More... NCBI chr13:76,246,837...76,338,437
Ensembl chr13:76,246,853...76,338,435 		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 chr 6:40,302,010...40,378,723
Ensembl chr 6:40,302,106...40,373,696 		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:25326635 More... NCBI chr13:76,246,837...76,338,437
Ensembl chr13:76,246,853...76,338,435 		JBrowse link
trichohepatoenteric syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Skic2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:22444670 PMID:24033266 PMID:25326635 PMID:25714577 More... NCBI chr17:35,058,202...35,069,180
Ensembl chr17:35,058,204...35,069,186 		JBrowse link
Vomiting term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21840870 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr12:112,073,117...112,094,007
Ensembl chr12:112,073,113...112,093,993 		JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12910066 NCBI chr14:67,982,717...67,986,889
Ensembl chr14:67,982,630...67,986,888 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Vomiting ClinVar PMID:25741868 NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:3091246 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Pyy peptide YY ISO CTD Direct Evidence: marker/mechanism CTD PMID:33581213 PMID:37286030 NCBI chr11:101,997,502...101,998,658
Ensembl chr11:101,997,502...101,998,658 		JBrowse link
G Tac1 tachykinin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31738934 NCBI chr 6:7,555,061...7,562,978
Ensembl chr 6:7,554,879...7,565,834 		JBrowse link
G Tacr1 tachykinin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15680276 NCBI chr 6:82,378,990...82,537,085
Ensembl chr 6:82,379,315...82,537,085 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Digestive Signs and Symptoms 192
          Abdominal Pain + 4
          Aerophagy 0
          Anorexia + 28
          Constipation + 25
          Dyspepsia 5
          Encopresis + 0
          Eructation 0
          Flatulence 0
          Gagging 0
          Halitosis + 1
          Heartburn 1
          Hiccup 0
          Hyperphagia + 22
          Nausea + 6
          Vomiting + 10
          diarrhea + 111
          pica disease 0
paths to the root