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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abdominal symptom
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Accession:HP:0011458 term browser browse the term
Definition:A subjective manifestation of disease localized to the abdomen.
Synonyms:xref: UMLS:C0740651



show annotations for term's descendants           Sort by:
Abdominal symptom term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC73 cell division cycle 73 IAGP ORPHA:99879 HPO NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815
JBrowse link
G GCM2 glial cells missing transcription factor 2 IAGP ORPHA:99879 HPO NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041
JBrowse link
G GNAS GNAS complex locus IAGP ORPHA:79443 ORPHA:79444 ORPHA:94089 HPO NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G MEN1 menin 1 IAGP ORPHA:99879 HPO NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G PRNP prion protein IAGP ORPHA:280397 HPO NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590
JBrowse link
G STX16 syntaxin 16 IAGP ORPHA:94089 HPO NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,253...58,679,526
JBrowse link
Abdominal colic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 IAGP ORPHA:69663 HPO NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
JBrowse link
G ALAD aminolevulinate dehydratase IAGP OMIM:612740 HPO NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290
JBrowse link
G APRT adenine phosphoribosyltransferase IAGP ORPHA:976 HPO NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937
JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 IAGP OMIM:615863 HPO NCBI chr 8:144,314,584...144,326,852
Ensembl chr 8:144,314,584...144,326,910
JBrowse link
G SI sucrase-isomaltase IAGP ORPHA:35122 HPO NCBI chr 3:164,978,898...165,157,921
Ensembl chr 3:164,978,898...165,078,496
JBrowse link
Abdominal cramps term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL1 ASXL transcriptional regulator 1 IAGP ORPHA:98850 HPO NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G CBL Cbl proto-oncogene IAGP ORPHA:98850 HPO NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP OMIM:603041 HPO NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP ORPHA:98850 HPO NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP ORPHA:98850 HPO NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP ORPHA:98850 HPO NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G TYMP thymidine phosphorylase IAGP OMIM:603041 HPO NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
Abdominal distention term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG2 actin gamma 2, smooth muscle IAGP OMIM:155310 ORPHA:2241 ORPHA:2604 HPO NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865
JBrowse link
G ADPRS ADP-ribosylserine hydrolase IAGP ClinVar Annotator: match by term: Belly bloating ClinVar NCBI chr 1:36,088,892...36,093,932
Ensembl chr 1:36,088,892...36,093,932
JBrowse link
G ALAD aminolevulinate dehydratase IAGP ORPHA:100924 HPO NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290
JBrowse link
G ALDOB aldolase, fructose-bisphosphate B IAGP ORPHA:469 HPO NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664
JBrowse link
G ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP OMIM:608104 HPO NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660
JBrowse link
G ANK1 ankyrin 1 IAGP ORPHA:822 HPO NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741
JBrowse link
G ANO1 anoctamin 1 IAGP OMIM:620045 HPO NCBI chr11:69,965,997...70,189,530
Ensembl chr11:69,985,907...70,189,530
JBrowse link
G ARSA arylsulfatase A IAGP ORPHA:309256 ORPHA:309263 ORPHA:309271 HPO NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP ORPHA:2131 HPO NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ORPHA:2131 HPO NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G ATP7B ATPase copper transporting beta IAGP OMIM:277900 HPO NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP ORPHA:168829 HPO NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G C2orf69 chromosome 2 open reading frame 69 IAGP OMIM:619423 HPO NCBI chr 2:199,911,293...199,928,273
Ensembl chr 2:199,911,293...199,955,935
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ORPHA:2131 HPO NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CLMP CXADR like membrane protein IAGP OMIM:615237 HPO NCBI chr11:123,069,872...123,195,248
Ensembl chr11:123,069,872...123,195,248
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:85166 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP OMIM:602557 ORPHA:93352 HPO NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP OMIM:270400 HPO NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ORPHA:93271 HPO NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP ORPHA:93271 HPO NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP ORPHA:93271 HPO NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 IAGP ORPHA:822 HPO NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018
JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP ORPHA:92050 HPO NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601
JBrowse link
G EPHB4 EPH receptor B4 IAGP OMIM:617300 HPO NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
JBrowse link
G EWSR1 EWS RNA binding protein 1 IAGP ORPHA:83469 HPO NCBI chr22:29,268,268...29,300,521
Ensembl chr22:29,268,009...29,300,525
JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP ORPHA:370348 HPO NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
JBrowse link
G FLNA filamin A IAGP OMIM:300048 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FOCAD focadhesin IAGP OMIM:619991 HPO NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955
JBrowse link
G FOXE1 forkhead box E1 IAGP ORPHA:95713 HPO NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP OMIM:617666 HPO NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131
JBrowse link
G FSHR follicle stimulating hormone receptor IAGP ORPHA:64739 HPO NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP OMIM:212750 HPO NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP OMIM:212750 HPO NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HMBS hydroxymethylbilane synthase IAGP ORPHA:79276 HPO NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834
JBrowse link
G IFT80 intraflagellar transport 80 IAGP ORPHA:93271 HPO NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G IL12A interleukin 12A IAGP ORPHA:186 HPO NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 IAGP ORPHA:186 HPO NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944
JBrowse link
G INSR insulin receptor IAGP OMIM:246200 HPO NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G IPO8 importin 8 IAGP OMIM:619472 HPO NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP ORPHA:93552 HPO NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902
JBrowse link
G IRF5 interferon regulatory factor 5 IAGP ORPHA:186 HPO NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G ITGA6 integrin subunit alpha 6 IAGP ORPHA:79403 HPO NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,427,354...172,506,459
JBrowse link
G ITGB4 integrin subunit beta 4 IAGP ORPHA:158684 HPO NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G KRT18 keratin 18 IAGP OMIM:215600 HPO NCBI chr12:52,948,855...52,952,906
Ensembl chr12:52,948,871...52,952,906
JBrowse link
G LIG3 DNA ligase 3 IAGP ORPHA:298 HPO NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743
JBrowse link
G LIPA lipase A, lysosomal acid type IAGP ORPHA:75233 HPO NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G LMOD1 leiomodin 1 IAGP ORPHA:2241 HPO NCBI chr 1:201,896,456...201,946,548
Ensembl chr 1:201,896,456...201,946,588
JBrowse link
G LRP5 LDL receptor related protein 5 IAGP ORPHA:2924 HPO NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G LYSET lysosomal enzyme trafficking factor IAGP OMIM:619345 HPO NCBI chr14:93,184,974...93,188,463
Ensembl chr14:93,184,951...93,188,463
JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP ORPHA:186 HPO NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016
JBrowse link
G MNX1 motor neuron and pancreas homeobox 1 IAGP OMIM:176450 HPO NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663
JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP OMIM:256810 HPO NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680
JBrowse link
G MYH11 myosin heavy chain 11 IAGP ORPHA:2241 HPO NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028
JBrowse link
G MYL9 myosin light chain 9 IAGP OMIM:619365 HPO NCBI chr20:36,541,519...36,551,447
Ensembl chr20:36,541,497...36,551,447
JBrowse link
G MYLK myosin light chain kinase IAGP ORPHA:2241 HPO NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332
JBrowse link
G MYO5B myosin VB IAGP ORPHA:2290 HPO NCBI chr18:49,822,789...50,195,147
Ensembl chr18:49,822,789...50,195,164
JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP ORPHA:95713 HPO NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP ORPHA:95712 ORPHA:95713 HPO NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP OMIM:256300 HPO NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287
JBrowse link
G PAX8 paired box 8 IAGP OMIM:218700 ORPHA:95712 ORPHA:95713 ORPHA:95720 HPO NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921
JBrowse link
G PERCC1 proline and glutamate rich with coiled coil 1 IAGP ORPHA:92050 HPO NCBI chr16:1,431,078...1,434,441
Ensembl chr16:1,431,078...1,434,441
JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 IAGP associated with glycogen storage disease IXa;DNA:mutations:multiple RGD PMID:28627441 RGD:26884355 NCBI chr  X:18,892,298...18,984,114
Ensembl chr  X:18,892,298...18,984,114
JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP ORPHA:436252 HPO NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
JBrowse link
G PLEC plectin IAGP ORPHA:158684 HPO NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP OMIM:613662 ORPHA:298 HPO NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP OMIM:618528 HPO NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 IAGP ORPHA:186 HPO NCBI chr11:111,352,255...111,379,275
Ensembl chr11:111,352,255...111,455,630
JBrowse link
G PRKCSH protein kinase C substrate 80K-H IAGP OMIM:174050 ORPHA:2924 HPO NCBI chr19:11,435,635...11,450,968
Ensembl chr19:11,435,284...11,450,968
JBrowse link
G PSAP prosaposin IAGP ORPHA:309256 ORPHA:309263 ORPHA:309271 HPO NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
JBrowse link
G PYGL glycogen phosphorylase L IAGP ORPHA:369 HPO NCBI chr14:50,905,217...50,944,483
Ensembl chr14:50,857,891...50,944,483
JBrowse link
G RET ret proto-oncogene IAGP OMIM:142623 HPO NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP ORPHA:298 HPO NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
G SAR1B secretion associated Ras related GTPase 1B IAGP ORPHA:71 HPO NCBI chr 5:134,601,149...134,632,828
Ensembl chr 5:134,601,149...134,649,271
JBrowse link
G SEC63 SEC63 homolog, protein translocation regulator IAGP ORPHA:2924 HPO NCBI chr 6:107,867,756...107,958,208
Ensembl chr 6:107,867,756...107,958,208
JBrowse link
G SI sucrase-isomaltase IAGP ORPHA:35122 HPO NCBI chr 3:164,978,898...165,157,921
Ensembl chr 3:164,978,898...165,078,496
JBrowse link
G SLC1A3 solute carrier family 1 member 3 IAGP ORPHA:2131 HPO NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP OMIM:600972 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G SLC26A3 solute carrier family 26 member 3 IAGP OMIM:214700 HPO NCBI chr 7:107,765,469...107,803,223
Ensembl chr 7:107,765,467...107,803,225
JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP ORPHA:95713 ORPHA:95720 HPO NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809
JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP OMIM:227810 HPO NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP ORPHA:822 HPO NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G SLC5A1 solute carrier family 5 member 1 IAGP OMIM:606824 HPO NCBI chr22:32,043,261...32,113,029
Ensembl chr22:32,043,261...32,113,029
JBrowse link
G SLC9A3 solute carrier family 9 member A3 IAGP OMIM:616868 HPO NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449
JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP ORPHA:1830 HPO NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
JBrowse link
G SPIB Spi-B transcription factor IAGP ORPHA:186 HPO NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314
JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 IAGP OMIM:270420 HPO NCBI chr19:38,264,573...38,292,615
Ensembl chr19:38,244,035...38,292,615
JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP ORPHA:93552 HPO NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP ORPHA:822 HPO NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715
JBrowse link
G SPTB spectrin beta, erythrocytic IAGP ORPHA:822 HPO NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP ORPHA:93552 HPO NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G STX3 syntaxin 3 IAGP ORPHA:2290 HPO NCBI chr11:59,754,188...59,805,878
Ensembl chr11:59,713,456...59,805,882
JBrowse link
G TCTN2 tectonic family member 2 IAGP OMIM:613885 HPO NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
JBrowse link
G TNFSF15 TNF superfamily member 15 IAGP ORPHA:186 HPO NCBI chr 9:114,784,635...114,806,039
Ensembl chr 9:114,784,652...114,806,039
JBrowse link
G TNPO3 transportin 3 IAGP ORPHA:186 HPO NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173
JBrowse link
G TREH trehalase IAGP ORPHA:103909 HPO NCBI chr11:118,657,316...118,679,650
Ensembl chr11:118,657,316...118,679,690
JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP ORPHA:93299 HPO NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP OMIM:613070
DNA:mutations:multiple
HPO
RGD
PMID:19732863 RGD:25440486 NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340
JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP ORPHA:95713 ORPHA:95720 HPO NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306
JBrowse link
G TTC26 tetratricopeptide repeat domain 26 IAGP OMIM:619534 HPO NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986
JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP ORPHA:436252 HPO NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137
JBrowse link
G TYMP thymidine phosphorylase IAGP ORPHA:298 HPO NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
G WDR35 WD repeat domain 35 IAGP ORPHA:93271 HPO NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G WT1 WT1 transcription factor IAGP ORPHA:83469 HPO NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP OMIM:235730 HPO NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
JBrowse link
Abdominal pain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 IAGP ORPHA:31150 HPO NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
JBrowse link
G ABCB11 ATP binding cassette subfamily B member 11 IAGP ORPHA:69665 HPO NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 IAGP ORPHA:69665 HPO NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 IAGP ORPHA:234 HPO NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594
JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 IAGP ORPHA:388 HPO NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP OMIM:210250 HPO NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988
JBrowse link
G ACTG2 actin gamma 2, smooth muscle IAGP OMIM:155310 HPO NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865
JBrowse link
G ACTN4 actinin alpha 4 IAGP ORPHA:656 HPO NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589
JBrowse link
G ADA2 adenosine deaminase 2 IAGP OMIM:615688 HPO NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G ALAD aminolevulinate dehydratase IAGP ORPHA:100924 HPO NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290
JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 IAGP ORPHA:79101 HPO NCBI chr 1:18,871,430...18,902,555
Ensembl chr 1:18,871,430...18,902,724
JBrowse link
G ALDOB aldolase, fructose-bisphosphate B IAGP OMIM:229600 ORPHA:469 HPO NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664
JBrowse link
G ANK1 ankyrin 1 IAGP ORPHA:822 HPO NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741
JBrowse link
G ANKFY1 ankyrin repeat and FYVE domain containing 1 IAGP ORPHA:656 HPO NCBI chr17:4,163,821...4,263,979
Ensembl chr17:4,163,821...4,263,995
JBrowse link
G ANLN anillin, actin binding protein IAGP ORPHA:656 HPO NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP OMIM:619182 ORPHA:873 ORPHA:99818 HPO NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G APOL1 apolipoprotein L1 IAGP ORPHA:656 HPO NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530
JBrowse link
G APRT adenine phosphoribosyltransferase IAGP OMIM:614723 HPO NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937
JBrowse link
G ARHGAP24 Rho GTPase activating protein 24 IAGP ORPHA:656 HPO NCBI chr 4:85,475,150...86,002,666
Ensembl chr 4:85,475,150...86,002,668
JBrowse link
G ARHGDIA Rho GDP dissociation inhibitor alpha IAGP ORPHA:656 HPO NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,721...81,871,378
JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP ORPHA:98849 HPO NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP ORPHA:388 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 IAGP ORPHA:69665 HPO NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315
JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP ORPHA:904 HPO NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
JBrowse link
G BCL10 BCL10 immune signaling adaptor IAGP ORPHA:52417 HPO NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632
JBrowse link
G BCL11A BCL11 transcription factor A IAGP ORPHA:251380 HPO NCBI chr 2:60,450,520...60,553,654
Ensembl chr 2:60,450,520...60,554,467
JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP ORPHA:904 HPO NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690
JBrowse link
G BCOR BCL6 corepressor IAGP ORPHA:520 HPO NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 IAGP ORPHA:52417 HPO NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,450...102,339,403
JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP OMIM:235200 HPO NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
JBrowse link
G BMP6 bone morphogenetic protein 6 IAGP ORPHA:465508 HPO NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP OMIM:174900 ORPHA:440437 ORPHA:79076 HPO NCBI chr10:86,755,763...86,927,969
Ensembl chr10:86,756,601...86,932,825
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP ORPHA:1333 ORPHA:168829 ORPHA:70567 HPO NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ORPHA:1333 ORPHA:654 ORPHA:70567 HPO NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP ORPHA:904 HPO NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,025...73,705,161
JBrowse link
G C4A complement C4A (Rodgers blood group) IAGP ORPHA:117 HPO NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
JBrowse link
G CALR calreticulin IAGP ORPHA:131 HPO NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CARD8 caspase recruitment domain family member 8 IAGP OMIM:619079 HPO NCBI chr19:48,179,825...48,255,946
Ensembl chr19:48,180,770...48,255,946
JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP OMIM:300908 HPO NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554
JBrowse link
G CASR calcium sensing receptor IAGP ORPHA:428 ORPHA:676 HPO NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
JBrowse link
G CCND1 cyclin D1 IAGP ORPHA:892 HPO NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP ORPHA:117 HPO NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G CD2AP CD2 associated protein IAGP ORPHA:656 HPO NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263
JBrowse link
G CD46 CD46 molecule IAGP ORPHA:244242 HPO NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
JBrowse link
G CD55 CD55 molecule (Cromer blood group) IAGP OMIM:226300 HPO NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP ORPHA:652 HPO NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP ORPHA:652 HPO NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ORPHA:1333 HPO NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP ORPHA:652 HPO NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP ORPHA:652 HPO NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634
JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon IAGP OMIM:260570 HPO NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256
JBrowse link
G CEL carboxyl ester lipase IAGP OMIM:609812 HPO NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861
JBrowse link
G CFH complement factor H IAGP ORPHA:244242 HPO NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G CFI complement factor I IAGP ORPHA:244242 HPO NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP OMIM:167800 ORPHA:676 HPO NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP ORPHA:358 HPO NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
JBrowse link
G CLDN16 claudin 16 IAGP OMIM:248250 HPO NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138
JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP ORPHA:904 HPO NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
JBrowse link
G CLPB caseinolytic mitochondrial matrix peptidase chaperone subunit B IAGP ORPHA:486 HPO NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680
JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ORPHA:656 HPO NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
JBrowse link
G COQ8B coenzyme Q8B IAGP ORPHA:656 HPO NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784
JBrowse link
G CORIN corin, serine peptidase IAGP ORPHA:275555 HPO NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106
JBrowse link
G CPA1 carboxypeptidase A1 IAGP ORPHA:676 HPO NCBI chr 7:130,380,494...130,388,108
Ensembl chr 7:130,380,339...130,388,114
JBrowse link
G CPOX coproporphyrinogen oxidase IAGP OMIM:121300 ORPHA:79273
DNA:missense mutations:exons:multiple
DNA:missense mutations, nonsense mutation:exons:multiple
HPO
RGD
PMID:12181641 PMID:15896662 RGD:25671430, RGD:25671429 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648
JBrowse link
G CRB2 crumbs cell polarity complex component 2 IAGP ORPHA:656 HPO NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP ORPHA:900 HPO NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G CTNNB1 catenin beta 1 IAGP ORPHA:1501 ORPHA:33402 ORPHA:873 HPO NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G CTRC chymotrypsin C IAGP OMIM:167800 ORPHA:676 HPO NCBI chr 1:15,438,443...15,449,242
Ensembl chr 1:15,438,442...15,449,242
JBrowse link
G DAAM2 dishevelled associated activator of morphogenesis 2 IAGP ORPHA:656 HPO NCBI chr 6:39,792,376...39,904,869
Ensembl chr 6:39,792,298...39,904,877
JBrowse link
G DDIT3 DNA damage inducible transcript 3 IAGP ORPHA:99967 HPO NCBI chr12:57,516,588...57,521,698
Ensembl chr12:57,516,588...57,521,737
JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP ORPHA:654 HPO NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350
JBrowse link
G DMPK DM1 protein kinase IAGP ORPHA:589821 HPO NCBI chr19:45,769,709...45,782,490
Ensembl chr19:45,769,709...45,782,552
JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP ORPHA:904 HPO NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
JBrowse link
G DNASE1L3 deoxyribonuclease 1 like 3 IAGP ORPHA:36412 HPO NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697
JBrowse link
G ECE1 endothelin converting enzyme 1 IAGP ORPHA:388 HPO NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
JBrowse link
G EDN3 endothelin 3 IAGP ORPHA:388 ORPHA:897 HPO NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992
JBrowse link
G EDNRB endothelin receptor type B IAGP ORPHA:388 ORPHA:897 HPO NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529
JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP ORPHA:904 HPO NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
JBrowse link
G ELANE elastase, neutrophil expressed IAGP ORPHA:2686 ORPHA:486 HPO NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G ELF4 E74 like ETS transcription factor 4 IAGP OMIM:301074 HPO NCBI chr  X:130,063,955...130,111,927
Ensembl chr  X:130,063,955...130,110,716
JBrowse link
G ELN elastin IAGP ORPHA:904 HPO NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G EMP2 epithelial membrane protein 2 IAGP ORPHA:656 HPO NCBI chr16:10,528,422...10,580,598
Ensembl chr16:10,528,422...10,580,632
JBrowse link
G EPB41 erythrocyte membrane protein band 4.1 IAGP ORPHA:288 HPO NCBI chr 1:28,887,100...29,120,041
Ensembl chr 1:28,887,091...29,120,046
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 IAGP ORPHA:822 HPO NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018
JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP ORPHA:144 HPO NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601
JBrowse link
G EPOR erythropoietin receptor IAGP ORPHA:90042 HPO NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP ORPHA:117 HPO NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP ORPHA:388 HPO NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP ORPHA:388 HPO NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
JBrowse link
G EWSR1 EWS RNA binding protein 1 IAGP ORPHA:83469 HPO NCBI chr22:29,268,268...29,300,521
Ensembl chr22:29,268,009...29,300,525
JBrowse link
G F5 coagulation factor V IAGP ORPHA:131 HPO NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G FAN1 FANCD2 and FANCI associated nuclease 1 IAGP ORPHA:144 HPO NCBI chr15:30,903,852...30,943,108
Ensembl chr15:30,890,559...30,943,108
JBrowse link
G FAS Fas cell surface death receptor IAGP ORPHA:117 HPO NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FGF13 fibroblast growth factor 13 IAGP OMIM:301058 HPO NCBI chr  X:138,614,727...139,205,023
Ensembl chr  X:138,614,727...139,222,777
JBrowse link
G FIP1L1 factor interacting with PAPOLA and CPSF1 IAGP ORPHA:520 HPO NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382
JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP ORPHA:904 HPO NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IAGP ORPHA:275555 HPO NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G FOXP1 forkhead box P1 IAGP ORPHA:52417 HPO NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
JBrowse link
G FSHR follicle stimulating hormone receptor IAGP OMIM:608115 ORPHA:64739 HPO NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527
JBrowse link
G FUS FUS RNA binding protein IAGP ORPHA:99967 HPO NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,191,605
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase IAGP OMIM:300908 HPO NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572
JBrowse link
G GAPVD1 GTPase activating protein and VPS9 domains 1 IAGP ORPHA:656 HPO NCBI chr 9:125,261,826...125,367,207
Ensembl chr 9:125,261,794...125,367,207
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP ORPHA:77259 HPO NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GCGR glucagon receptor IAGP ORPHA:438274 HPO NCBI chr17:81,804,150...81,814,008
Ensembl chr17:81,804,132...81,814,008
JBrowse link
G GDNF glial cell derived neurotrophic factor IAGP ORPHA:388 HPO NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041
JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor IAGP ORPHA:486 HPO NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925
JBrowse link
G GHSR growth hormone secretagogue receptor IAGP ORPHA:314811 HPO NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456
JBrowse link
G GLA galactosidase alpha IAGP OMIM:301500 ORPHA:324 HPO NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G GNA11 G protein subunit alpha 11 IAGP ORPHA:428 HPO NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
JBrowse link
G GPC3 glypican 3 IAGP ORPHA:654 HPO NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100
JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP ORPHA:171 HPO NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159
JBrowse link
G GTF2I general transcription factor IIi IAGP ORPHA:904 HPO NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP ORPHA:904 HPO NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP ORPHA:904 HPO NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
JBrowse link
G GUCY2C guanylate cyclase 2C IAGP OMIM:614616 HPO NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599
JBrowse link
G GYPC glycophorin C (Gerbich blood group) IAGP ORPHA:288 HPO NCBI chr 2:126,656,158...126,696,667
Ensembl chr 2:126,656,133...126,696,667
JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP ORPHA:654 HPO NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,001,470
JBrowse link
G HBB hemoglobin subunit beta IAGP OMIM:603903 ORPHA:251380 ORPHA:90039 HPO NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
JBrowse link
G HBG1 hemoglobin subunit gamma 1 IAGP ORPHA:251380 HPO NCBI chr11:5,248,269...5,249,857
Ensembl chr11:5,248,269...5,249,857
JBrowse link
G HBG2 hemoglobin subunit gamma 2 IAGP ORPHA:251380 HPO NCBI chr11:5,253,188...5,254,781
Ensembl chr11:5,253,188...5,505,605
JBrowse link
G HELLPAR HELLP associated long non-coding RNA IAGP ORPHA:244242 HPO Ensembl chr12:102,197,585...102,402,596 JBrowse link
G HFE homeostatic iron regulator IAGP OMIM:176200 OMIM:235200 ORPHA:465508
ClinVar Annotator: match by term: Abdominal pain
HPO
ClinVar
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP ORPHA:117 ORPHA:29207 ORPHA:36426 ORPHA:397 HPO NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP ORPHA:900 HPO NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP ORPHA:900 HPO NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP OMIM:212750 HPO NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP OMIM:212750 HPO NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ORPHA:397 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G HMBS hydroxymethylbilane synthase IAGP OMIM:176000 ORPHA:79276
ClinVar Annotator: match by term: Abdominal pain
ClinVar Annotator: match by term: Pain in stomach
HPO
ClinVar
PMID:25741868 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834
JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 IAGP OMIM:203300 HPO NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,410,939...98,446,963
JBrowse link
G HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 IAGP OMIM:619367 HPO NCBI chr16:1,911,475...1,920,940
Ensembl chr16:1,911,475...1,918,415
JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP ORPHA:117 HPO NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
JBrowse link
G IGH immunoglobulin heavy locus IAGP ORPHA:52417 HPO NCBI chr14:105,586,437...106,879,844 JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP ORPHA:36426 HPO NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
JBrowse link
G IL10 interleukin 10 IAGP ORPHA:117 HPO NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL12A interleukin 12A IAGP ORPHA:117 HPO NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP ORPHA:117 HPO NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,225,299
JBrowse link
G IL23R interleukin 23 receptor IAGP ORPHA:117 HPO NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
JBrowse link
G IL6 interleukin 6 IAGP OMIM:266600 ORPHA:85414 HPO NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G INF2 inverted formin 2 IAGP ORPHA:656 HPO NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP ORPHA:93552 HPO NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902
JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP ORPHA:520 HPO NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178
JBrowse link
G IRF4 interferon regulatory factor 4 IAGP ORPHA:3452 HPO NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443
JBrowse link
G JAK2 Janus kinase 2 IAGP ORPHA:131 ORPHA:729 HPO NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP ORPHA:3202 HPO NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976
JBrowse link
G KIF1B kinesin family member 1B IAGP OMIM:256700 HPO NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP ORPHA:79455 HPO NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G KLF1 KLF transcription factor 1 IAGP ORPHA:251380 HPO NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201
JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP ORPHA:117 HPO NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,384...10,409,757
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ORPHA:1333 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LACC1 laccase domain containing 1 IAGP ORPHA:85414 HPO NCBI chr13:43,879,178...43,893,932
Ensembl chr13:43,879,284...43,893,932
JBrowse link
G LIG3 DNA ligase 3 IAGP ORPHA:298 HPO NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743
JBrowse link
G LIMK1 LIM domain kinase 1 IAGP ORPHA:904 HPO NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
JBrowse link
G LRP5 LDL receptor related protein 5 IAGP ORPHA:2924 HPO NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 IAGP ORPHA:656 HPO NCBI chr 7:78,017,055...79,453,667
Ensembl chr 7:78,017,055...79,453,667
JBrowse link
G MALT1 MALT1 paracaspase IAGP ORPHA:52417 HPO NCBI chr18:58,671,465...58,754,477
Ensembl chr18:58,671,465...58,754,477
JBrowse link
G MCM6 minichromosome maintenance complex component 6 IAGP OMIM:223100 HPO NCBI chr 2:135,839,626...135,876,443
Ensembl chr 2:135,839,626...135,876,443
JBrowse link
G MED12 mediator complex subunit 12 IAGP OMIM:301068 HPO NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP OMIM:134610 ORPHA:117 ORPHA:342 HPO NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MEN1 menin 1 IAGP ORPHA:652 HPO NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ORPHA:33402 HPO NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G METTL27 methyltransferase like 27 IAGP ORPHA:904 HPO NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
JBrowse link
G MIF macrophage migration inhibitory factor IAGP ORPHA:85414 HPO NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G MITF melanocyte inducing transcription factor IAGP ORPHA:897 HPO NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336
JBrowse link
G MLH1 mutL homolog 1 IAGP ORPHA:144 HPO NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,350...37,050,846
JBrowse link
G MLH3 mutL homolog 3 IAGP ORPHA:144 HPO NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532
JBrowse link
G MLXIPL MLX interacting protein like IAGP ORPHA:904 HPO NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
JBrowse link
G MLYCD malonyl-CoA decarboxylase IAGP OMIM:248360 HPO NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445
JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP ORPHA:79312 HPO NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP ORPHA:729 HPO NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G MSH2 mutS homolog 2 IAGP ORPHA:144 HPO NCBI chr 2:47,403,067...47,634,501
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MSH6 mutS homolog 6 IAGP ORPHA:144 HPO NCBI chr 2:47,783,145...47,806,953
Ensembl chr 2:47,695,530...47,810,063
JBrowse link
G MST1 macrophage stimulating 1 IAGP ORPHA:171 HPO NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501
JBrowse link
G MVK mevalonate kinase IAGP OMIM:260920 ORPHA:343 HPO NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IAGP ORPHA:543 HPO NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G MYO1E myosin IE IAGP ORPHA:656 HPO NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871
JBrowse link
G NABP1 nucleic acid binding protein 1 IAGP ORPHA:520 HPO NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP ORPHA:904 HPO NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP ORPHA:871 HPO NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G NLRP12 NLR family pyrin domain containing 12 IAGP OMIM:611762 HPO NCBI chr19:53,793,584...53,824,403
Ensembl chr19:53,793,741...53,824,403
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP ORPHA:47045 ORPHA:575 HPO NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP OMIM:266600 OMIM:617321 HPO NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP ORPHA:656 HPO NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287
JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin IAGP ORPHA:656 HPO NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952
JBrowse link
G NPM1 nucleophosmin 1 IAGP ORPHA:520 HPO NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 IAGP ORPHA:69665 HPO NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
JBrowse link
G NRTN neurturin IAGP ORPHA:388 HPO NCBI chr19:5,805,067...5,828,324
Ensembl chr19:5,805,067...5,828,324
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ORPHA:520 HPO NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693
JBrowse link
G NUP107 nucleoporin 107 IAGP ORPHA:656 HPO NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
JBrowse link
G NUP133 nucleoporin 133 IAGP ORPHA:656 HPO NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341
JBrowse link
G NUP160 nucleoporin 160 IAGP ORPHA:656 HPO NCBI chr11:47,778,118...47,848,544
Ensembl chr11:47,778,087...47,848,555
JBrowse link
G NUP205 nucleoporin 205 IAGP ORPHA:656 HPO NCBI chr 7:135,557,917...135,648,753
Ensembl chr 7:135,557,917...135,648,757
JBrowse link
G NUP37 nucleoporin 37 IAGP ORPHA:656 HPO NCBI chr12:102,073,103...102,120,114
Ensembl chr12:102,073,103...102,120,120
JBrowse link
G NUP85 nucleoporin 85 IAGP ORPHA:656 HPO NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758
JBrowse link
G NUP93 nucleoporin 93 IAGP ORPHA:656 HPO NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286
JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing IAGP OMIM:260005 HPO NCBI chr 8:144,050,322...144,063,961
Ensembl chr 8:144,051,266...144,063,965
JBrowse link
G OTC ornithine transcarbamylase IAGP OMIM:311250 HPO NCBI chr  X:38,352,604...38,421,446
Ensembl chr  X:38,352,586...38,421,446
JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity IAGP OMIM:617099 HPO NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,699,850
JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP ORPHA:397 HPO NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ORPHA:1333 HPO NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
JBrowse link
G PALLD palladin, cytoskeletal associated protein IAGP ORPHA:1333 HPO NCBI chr 4:168,497,052...168,928,441
Ensembl chr 4:168,497,052...168,928,457
JBrowse link
G PAX2 paired box 2 IAGP ORPHA:656 HPO NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 IAGP ORPHA:3202 HPO NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220
JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP OMIM:615399 HPO NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934
JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP OMIM:616809 HPO NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ORPHA:144 HPO NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IAGP OMIM:619802 HPO NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
JBrowse link
G PLCE1 phospholipase C epsilon 1 IAGP ORPHA:656 HPO NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823
JBrowse link
G PML PML nuclear body scaffold IAGP ORPHA:520 HPO NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP ORPHA:144 HPO NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP ORPHA:144 HPO NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP OMIM:613662 ORPHA:298 HPO NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ORPHA:86812 HPO NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
JBrowse link
G PORCN porcupine O-acyltransferase IAGP ORPHA:2092 HPO NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G POU6F2 POU class 6 homeobox 2 IAGP ORPHA:654 HPO NCBI chr 7:38,977,909...39,468,601
Ensembl chr 7:38,977,909...39,493,095
JBrowse link
G PPOX protoporphyrinogen oxidase IAGP OMIM:176200 ORPHA:79473 HPO NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ORPHA:520 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PRKCSH protein kinase C substrate 80K-H IAGP ORPHA:2924 HPO NCBI chr19:11,435,635...11,450,968
Ensembl chr19:11,435,284...11,450,968
JBrowse link
G PRSS1 serine protease 1 IAGP OMIM:167800 ORPHA:676 HPO NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072
JBrowse link
G PRSS2 serine protease 2 IAGP OMIM:167800 ORPHA:676 HPO NCBI chr 7:142,770,970...142,774,560
Ensembl chr 7:142,760,398...142,774,564
JBrowse link
G PRTN3 proteinase 3 IAGP ORPHA:900 HPO NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ORPHA:79076 HPO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP ORPHA:397 ORPHA:900 HPO NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G PTPN3 protein tyrosine phosphatase non-receptor type 3 IAGP ORPHA:70567 HPO NCBI chr 9:109,375,694...109,538,420
Ensembl chr 9:109,375,466...109,498,313
JBrowse link
G PTPRO protein tyrosine phosphatase receptor type O IAGP ORPHA:656 HPO NCBI chr12:15,322,508...15,598,331
Ensembl chr12:15,322,257...15,602,175
JBrowse link
G RABL3 RAB, member of RAS oncogene family like 3 IAGP ORPHA:1333 HPO NCBI chr 3:120,684,938...120,742,680
Ensembl chr 3:120,684,938...120,742,993
JBrowse link
G RAD21 RAD21 cohesin complex component IAGP OMIM:611376 HPO NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
JBrowse link
G RARA retinoic acid receptor alpha IAGP ORPHA:520 HPO NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643
JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 IAGP OMIM:615895 HPO NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139
JBrowse link
G REST RE1 silencing transcription factor IAGP ORPHA:654 HPO NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808
JBrowse link
G RET ret proto-oncogene IAGP ORPHA:388 HPO NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G RFC2 replication factor C subunit 2 IAGP ORPHA:904 HPO NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
JBrowse link
G RIPK1 receptor interacting serine/threonine kinase 1 IAGP OMIM:618852 HPO NCBI chr 6:3,063,967...3,115,187
Ensembl chr 6:3,063,824...3,115,187
JBrowse link
G RNF168 ring finger protein 168 IAGP ORPHA:420741 HPO NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768
JBrowse link
G RPS20 ribosomal protein S20 IAGP ORPHA:440437 HPO NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP ORPHA:298 HPO NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
G SAA1 serum amyloid A1 IAGP ORPHA:85445 HPO NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977
JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP ORPHA:77259 HPO NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ORPHA:871 HPO NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ORPHA:871 HPO NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ORPHA:97286 HPO NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP ORPHA:97286 HPO NCBI chr 1:161,314,381...161,375,340
Ensembl chr 1:161,314,381...161,363,206
JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP ORPHA:97286 HPO NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
G SEC63 SEC63 homolog, protein translocation regulator IAGP ORPHA:2924 HPO NCBI chr 6:107,867,756...107,958,208
Ensembl chr 6:107,867,756...107,958,208
JBrowse link
G SEMA3C semaphorin 3C IAGP ORPHA:388 HPO NCBI chr 7:80,742,538...80,922,389
Ensembl chr 7:80,742,538...80,922,359
JBrowse link
G SEMA3D semaphorin 3D IAGP ORPHA:388 HPO NCBI chr 7:84,995,553...85,250,243
Ensembl chr 7:84,995,553...85,187,056
JBrowse link
G SEMA4A semaphorin 4A IAGP ORPHA:440437 HPO NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752
JBrowse link
G SEMA4D semaphorin 4D IAGP ORPHA:171 HPO NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130
JBrowse link
G SERPING1 serpin family G member 1 IAGP OMIM:106100 ORPHA:100050 HPO NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
JBrowse link
G SI sucrase-isomaltase IAGP OMIM:222900 HPO NCBI chr 3:164,978,898...165,157,921
Ensembl chr 3:164,978,898...165,078,496
JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP OMIM:263800 ORPHA:358 HPO NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
JBrowse link
G SLC25A26 solute carrier family 25 member 26 IAGP OMIM:616794 HPO NCBI chr 3:66,133,610...66,378,927
Ensembl chr 3:66,133,610...66,388,116
JBrowse link
G SLC40A1 solute carrier family 40 member 1 IAGP ORPHA:139491 HPO NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP ORPHA:822 HPO NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G SMAD4 SMAD family member 4 IAGP OMIM:174900 HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SMO smoothened, frizzled class receptor IAGP ORPHA:388 HPO NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP ORPHA:163746 ORPHA:897 HPO NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
JBrowse link
G SPINK1 serine peptidase inhibitor Kazal type 1 IAGP OMIM:167800 OMIM:608189 ORPHA:676 HPO NCBI chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671
JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP ORPHA:93552 HPO NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP ORPHA:288 ORPHA:822 HPO NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715
JBrowse link
G SPTB spectrin beta, erythrocytic IAGP ORPHA:288 ORPHA:822 HPO NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907
JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP OMIM:619475 HPO NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,317...54,671,446
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP ORPHA:388 HPO NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
JBrowse link
G SRP54 signal recognition particle 54 IAGP ORPHA:486 HPO NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686
JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP ORPHA:98849 HPO NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP ORPHA:520 HPO NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP ORPHA:117 ORPHA:93552 HPO NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP ORPHA:520 HPO NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
JBrowse link
G STK11 serine/threonine kinase 11 IAGP OMIM:175200 ORPHA:2869 HPO NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G STOX1 storkhead box 1 IAGP ORPHA:275555 HPO NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432
JBrowse link
G STX1A syntaxin 1A IAGP ORPHA:904 HPO NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
JBrowse link
G SYK spleen associated tyrosine kinase IAGP OMIM:619381 HPO NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
JBrowse link
G TBC1D8B TBC1 domain family member 8B IAGP ORPHA:656 HPO NCBI chr  X:106,802,673...106,876,150
Ensembl chr  X:106,802,673...106,876,150
JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP ORPHA:520 HPO NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
JBrowse link
G TBL2 transducin beta like 2 IAGP ORPHA:904 HPO NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
JBrowse link
G TCF4 transcription factor 4 IAGP ORPHA:171 HPO NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP ORPHA:486 HPO NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
JBrowse link
G TERT telomerase reverse transcriptase IAGP ORPHA:1501 HPO NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP ORPHA:729 HPO NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ORPHA:144 HPO NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G TLR4 toll like receptor 4 IAGP ORPHA:117 HPO NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TMEM270 transmembrane protein 270 IAGP ORPHA:904 HPO NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP OMIM:142680 ORPHA:32960 HPO NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TP53 tumor protein p53 IAGP ORPHA:1333 ORPHA:1501 HPO NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TREH trehalase IAGP ORPHA:103909 HPO NCBI chr11:118,657,316...118,679,650
Ensembl chr11:118,657,316...118,679,690
JBrowse link
G TRIM28 tripartite motif containing 28 IAGP ORPHA:654 HPO NCBI chr19:58,544,064...58,550,715
Ensembl chr19:58,544,064...58,550,722
JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP ORPHA:654 HPO NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP ORPHA:656 HPO NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ORPHA:871 HPO NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
JBrowse link
G TSC1 TSC complex subunit 1 IAGP ORPHA:538 HPO NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ORPHA:538 HPO NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G TYMP thymidine phosphorylase IAGP ORPHA:298 HPO NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
G UBAC2 UBA domain containing 2 IAGP ORPHA:117 HPO NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504
JBrowse link
G UNC45A unc-45 myosin chaperone A IAGP OMIM:619377 HPO NCBI chr15:90,930,180...90,954,093
Ensembl chr15:90,930,180...90,954,093
JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ORPHA:892 HPO NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP ORPHA:904 HPO NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
JBrowse link
G WT1 WT1 transcription factor IAGP ORPHA:654 ORPHA:656 ORPHA:83469 HPO NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP ORPHA:520 HPO NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765
JBrowse link
G ZNRF3 zinc and ring finger 3 IAGP ORPHA:1501 HPO NCBI chr22:28,883,572...29,057,488
Ensembl chr22:28,883,572...29,057,488
JBrowse link
Abdominal rigidity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP ORPHA:53035 HPO NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
Abnormal bowel sounds term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV1 caveolin 1 IAGP ORPHA:220393 HPO NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CCN2 cellular communication network factor 2 IAGP ORPHA:220393 HPO NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G CCR6 C-C motif chemokine receptor 6 IAGP ORPHA:220393 HPO NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ORPHA:220393 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IRF5 interferon regulatory factor 5 IAGP ORPHA:220393 HPO NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
Anorexia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT1 acetyl-CoA acetyltransferase 1 IAGP ORPHA:134 HPO NCBI chr11:108,116,705...108,147,603
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IAGP OMIM:241500 HPO NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
JBrowse link
G AQP2 aquaporin 2 IAGP ORPHA:223 HPO NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878
JBrowse link
G ARG1 arginase 1 IAGP OMIM:207800 HPO NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP ORPHA:98850 HPO NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G ATM ATM serine/threonine kinase IAGP ORPHA:52416 HPO NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP ORPHA:2131 HPO NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ORPHA:2131 HPO NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G ATRX ATRX chromatin remodeler IAGP ORPHA:100075 HPO NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G AVPR2 arginine vasopressin receptor 2 IAGP ORPHA:223 HPO NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166
JBrowse link
G BCOR BCL6 corepressor IAGP ORPHA:520 HPO NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP ORPHA:70567 HPO NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ORPHA:70567 HPO NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G C4A complement C4A (Rodgers blood group) IAGP ORPHA:117 HPO NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ORPHA:2131 HPO NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CALR calreticulin IAGP ORPHA:824 HPO NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CBL Cbl proto-oncogene IAGP ORPHA:98850 HPO NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G CBS cystathionine beta-synthase IAGP ORPHA:394 HPO NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CCND1 cyclin D1 IAGP ORPHA:52416 HPO NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP ORPHA:117 HPO NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G CD247 CD247 molecule IAGP ORPHA:169160 HPO NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640
JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex IAGP ORPHA:169160 HPO NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705
JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex IAGP ORPHA:169160 HPO NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP ORPHA:652 HPO NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP ORPHA:652 HPO NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ORPHA:1333 HPO NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP ORPHA:652 HPO NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP ORPHA:652 HPO NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634
JBrowse link
G DAXX death domain associated protein IAGP ORPHA:100075 HPO NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP ORPHA:117 HPO NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
JBrowse link
G FAS Fas cell surface death receptor IAGP ORPHA:117 HPO NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FIP1L1 factor interacting with PAPOLA and CPSF1 IAGP ORPHA:520 HPO NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382
JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP ORPHA:370348 HPO NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP ORPHA:77259 HPO NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GLA galactosidase alpha IAGP ORPHA:324 HPO NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP ORPHA:117 ORPHA:3287 ORPHA:397 HPO NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ORPHA:397 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G HLCS holocarboxylase synthetase IAGP ORPHA:79242 HPO NCBI chr21:36,748,625...36,990,211
Ensembl chr21:36,748,626...36,990,236
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP ORPHA:20 HPO NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620
JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP ORPHA:117 HPO NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
JBrowse link
G IGH immunoglobulin heavy locus IAGP ORPHA:52416 HPO NCBI chr14:105,586,437...106,879,844 JBrowse link
G IL10 interleukin 10 IAGP ORPHA:117 HPO NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL12A interleukin 12A IAGP ORPHA:117 HPO NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP ORPHA:117 HPO NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,225,299
JBrowse link
G IL12B interleukin 12B IAGP ORPHA:3287 HPO NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
JBrowse link
G IL23R interleukin 23 receptor IAGP ORPHA:117 HPO NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP ORPHA:520 HPO NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178
JBrowse link
G IRF4 interferon regulatory factor 4 IAGP ORPHA:3452 HPO NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443
JBrowse link
G JAK2 Janus kinase 2 IAGP ORPHA:824 HPO NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP ORPHA:117 HPO NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,384...10,409,757
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ORPHA:1333 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G MC2R melanocortin 2 receptor IAGP ORPHA:361 HPO NCBI chr18:13,882,044...13,915,707
Ensembl chr18:13,882,044...13,915,707
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ORPHA:3077 HPO NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP ORPHA:117 HPO NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MEN1 menin 1 IAGP ORPHA:652 HPO NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G MLX MAX dimerization protein MLX IAGP ORPHA:3287 HPO NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239
JBrowse link
G MMADHC metabolism of cobalamin associated D IAGP ORPHA:79283 HPO NCBI chr 2:149,569,637...149,587,775
Ensembl chr 2:149,569,637...149,587,778
JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP ORPHA:79312 HPO NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP ORPHA:824 HPO NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G MRAP melanocortin 2 receptor accessory protein IAGP ORPHA:361 HPO NCBI chr21:32,291,813...32,314,784
Ensembl chr21:32,291,813...32,314,784
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP ORPHA:33226 HPO NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,478...38,143,024
JBrowse link
G NABP1 nucleic acid binding protein 1 IAGP ORPHA:520 HPO NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097
JBrowse link
G NFS1 NFS1 cysteine desulfurase IAGP OMIM:619386 HPO NCBI chr20:35,668,052...35,699,352
Ensembl chr20:35,668,052...35,699,355
JBrowse link
G NNT nicotinamide nucleotide transhydrogenase IAGP ORPHA:361 HPO NCBI chr 5:43,602,675...43,707,396
Ensembl chr 5:43,602,692...43,707,405
JBrowse link
G NPM1 nucleophosmin 1 IAGP ORPHA:520 HPO NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ORPHA:520 HPO NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693
JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP ORPHA:397 HPO NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ORPHA:1333 HPO NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
JBrowse link
G PALLD palladin, cytoskeletal associated protein IAGP ORPHA:1333 HPO NCBI chr 4:168,497,052...168,928,441
Ensembl chr 4:168,497,052...168,928,457
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP ORPHA:53035 HPO NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G PML PML nuclear body scaffold IAGP ORPHA:520 HPO NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ORPHA:520 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP ORPHA:397 HPO NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G PTPN3 protein tyrosine phosphatase non-receptor type 3 IAGP ORPHA:70567 HPO NCBI chr 9:109,375,694...109,538,420
Ensembl chr 9:109,375,466...109,498,313
JBrowse link
G RABL3 RAB, member of RAS oncogene family like 3 IAGP ORPHA:1333 HPO NCBI chr 3:120,684,938...120,742,680
Ensembl chr 3:120,684,938...120,742,993
JBrowse link
G RARA retinoic acid receptor alpha IAGP ORPHA:520 HPO NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643
JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP ORPHA:98850 HPO NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP ORPHA:77259 HPO NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536
JBrowse link
G SLC19A2 solute carrier family 19 member 2 IAGP ORPHA:49827 HPO NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944
JBrowse link
G SLC1A3 solute carrier family 1 member 3 IAGP ORPHA:2131 HPO NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334
JBrowse link
G SLC39A4 solute carrier family 39 member 4 IAGP ORPHA:37 HPO NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
JBrowse link
G SLC46A1 solute carrier family 46 member 1 IAGP ORPHA:90045 HPO NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP OMIM:611590 HPO NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G SMAD4 SMAD family member 4 IAGP ORPHA:1333 HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP ORPHA:98850 HPO NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
JBrowse link
G STAR steroidogenic acute regulatory protein IAGP ORPHA:361 HPO NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP ORPHA:520 HPO NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP ORPHA:117 HPO NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP ORPHA:520 HPO NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
JBrowse link
G SYK spleen associated tyrosine kinase IAGP OMIM:619381 HPO NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP ORPHA:520 HPO NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP ORPHA:824 HPO NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP ORPHA:1328 HPO NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TLR4 toll like receptor 4 IAGP ORPHA:117 HPO NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TP53 tumor protein p53 IAGP ORPHA:1333 HPO NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP ORPHA:361 HPO NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820
JBrowse link
G UBAC2 UBA domain containing 2 IAGP ORPHA:117 HPO NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504
JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP ORPHA:520 HPO NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765
JBrowse link
Bloody diarrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM17 ADAM metallopeptidase domain 17 IAGP ORPHA:294023 HPO NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
JBrowse link
G APOA4 apolipoprotein A4 severity IAGP DNA:missense mutation:cds:p.Q360H RGD PMID:17206692 RGD:5685660 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304
JBrowse link
G CARD8 caspase recruitment domain family member 8 IAGP OMIM:619079 HPO NCBI chr19:48,179,825...48,255,946
Ensembl chr19:48,180,770...48,255,946
JBrowse link
G EGFR epidermal growth factor receptor IAGP ORPHA:294023 HPO NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G IL37 interleukin 37 IAGP OMIM:619398 HPO NCBI chr 2:112,911,165...112,918,882
Ensembl chr 2:112,911,165...112,918,882
JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP ORPHA:436252 HPO NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
JBrowse link
G SKIC2 SKI2 subunit of superkiller complex IAGP OMIM:614602 HPO NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818
JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP ORPHA:84064 HPO NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050
JBrowse link
G STK11 serine/threonine kinase 11 IAGP OMIM:175200 HPO NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP OMIM:618213 HPO NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP ORPHA:436252 HPO NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137
JBrowse link
Bowel irritability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYMK myomaker, myoblast fusion factor IAGP OMIM:254940 HPO NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612
JBrowse link
G SYK spleen associated tyrosine kinase IAGP OMIM:619381 HPO NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
JBrowse link
Chronic constipation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAT3 adenosine deaminase tRNA specific 3 IAGP ORPHA:363528 HPO NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP ORPHA:404448 HPO NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
JBrowse link
G AFF3 ALF transcription elongation factor 3 IAGP OMIM:619297 HPO NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428
JBrowse link
G ARSB arylsulfatase B IAGP OMIM:253200 HPO NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087
JBrowse link
G ASH1L ASH1 like histone lysine methyltransferase IAGP OMIM:617796 HPO NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162
JBrowse link
G BICRA BRD4 interacting chromatin remodeling complex associated protein IAGP OMIM:619325 HPO NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277
JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta IAGP OMIM:617799 HPO NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577
JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 IAGP OMIM:614756 HPO NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706
JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase IAGP OMIM:619071 HPO NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ORPHA:287 HPO NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ORPHA:287 HPO NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP ORPHA:287 HPO NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312
JBrowse link
G CREBBP CREB binding protein IAGP OMIM:618332 HPO NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit IAGP OMIM:614507 HPO NCBI chr 1:20,651,777...20,661,369
Ensembl chr 1:20,651,767...20,661,544
JBrowse link
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 IAGP ORPHA:411602 HPO NCBI chr 3:132,417,502...132,539,032
Ensembl chr 3:132,417,502...132,539,032
JBrowse link
G EIF4G1 eukaryotic translation initiation factor 4 gamma 1 IAGP ORPHA:411602 HPO NCBI chr 3:184,314,606...184,335,358
Ensembl chr 3:184,314,495...184,335,358
JBrowse link
G EIF5A eukaryotic translation initiation factor 5A IAGP OMIM:619376 HPO NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463
JBrowse link
G ELF4 E74 like ETS transcription factor 4 IAGP OMIM:301074 HPO NCBI chr  X:130,063,955...130,111,927
Ensembl chr  X:130,063,955...130,110,716
JBrowse link
G ELN elastin IAGP OMIM:194050 HPO NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G EP300 E1A binding protein p300 IAGP OMIM:618333 HPO NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP OMIM:619465 HPO NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G FAR1 fatty acyl-CoA reductase 1 IAGP OMIM:619338 HPO NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,668...13,732,346
JBrowse link
G FBXO28 F-box protein 28 IAGP OMIM:619777 HPO NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047
JBrowse link
G FGF12 fibroblast growth factor 12 IAGP OMIM:617166 HPO NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764
JBrowse link
G GATAD2B GATA zinc finger domain containing 2B IAGP ORPHA:363686 HPO NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP ORPHA:411602 HPO NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GIGYF2 GRB10 interacting GYF protein 2 IAGP ORPHA:411602 HPO NCBI chr 2:232,697,331...232,860,605
Ensembl chr 2:232,697,299...232,860,605
JBrowse link
G GNB2 G protein subunit beta 2 IAGP OMIM:619503 HPO NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 IAGP OMIM:619931 HPO NCBI chr 5:153,489,615...153,813,869
Ensembl chr 5:153,489,615...153,813,869
JBrowse link
G H1-4 H1.4 linker histone, cluster member IAGP OMIM:617537 HPO NCBI chr 6:26,156,329...26,157,115
Ensembl chr 6:26,156,329...26,157,115
JBrowse link
G H3-3A H3.3 histone A IAGP OMIM:619720 HPO NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019
JBrowse link
G H3-3B H3.3 histone B IAGP OMIM:619721 HPO NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893
JBrowse link
G H4C5 H4 clustered histone 5 IAGP OMIM:619950 HPO NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021
JBrowse link
G HIVEP2 HIVEP zinc finger 2 IAGP OMIM:616977 HPO NCBI chr 6:142,751,469...142,946,365
Ensembl chr 6:142,751,469...142,956,698
JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 IAGP OMIM:300986 HPO NCBI chr  X:101,408,222...101,414,133
Ensembl chr  X:101,408,222...101,414,133
JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP OMIM:619194 HPO NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982
JBrowse link
G IGBP1 immunoglobulin binding protein 1 IAGP OMIM:300472 HPO NCBI chr  X:70,133,447...70,166,324
Ensembl chr  X:70,133,447...70,166,324
JBrowse link
G IPO8 importin 8 IAGP OMIM:619472 HPO NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
JBrowse link
G KMT5B lysine methyltransferase 5B IAGP OMIM:617788 HPO NCBI chr11:68,154,863...68,213,648
Ensembl chr11:68,154,863...68,213,852
JBrowse link
G LBX1 ladybird homeobox 1 IAGP OMIM:619483 HPO NCBI chr10:101,226,994...101,229,463
Ensembl chr10:101,226,994...101,229,463
JBrowse link
G LMNB1 lamin B1 IAGP OMIM:619179 HPO NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
JBrowse link
G LMNB2 lamin B2 IAGP OMIM:619180 HPO NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959
JBrowse link
G LRRK2 leucine rich repeat kinase 2 IAGP ORPHA:411602 HPO NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285
JBrowse link
G MADD MAP kinase activating death domain IAGP OMIM:619004 HPO NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
JBrowse link
G MAGEL2 MAGE family member L2 IAGP ORPHA:398069 HPO NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP OMIM:300260 HPO NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MED13 mediator complex subunit 13 IAGP OMIM:618009 HPO NCBI chr17:61,942,605...62,065,278
Ensembl chr17:61,942,605...62,065,278
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP OMIM:249100 HPO NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MLXIPL MLX interacting protein like IAGP OMIM:194050 HPO NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
JBrowse link
G MLYCD malonyl-CoA decarboxylase IAGP OMIM:248360 HPO NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445
JBrowse link
G MNX1 motor neuron and pancreas homeobox 1 IAGP OMIM:176450 HPO NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663
JBrowse link
G MOGS mannosyl-oligosaccharide glucosidase IAGP ORPHA:79330 HPO NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410
JBrowse link
G MSL3 MSL complex subunit 3 IAGP OMIM:301032 HPO NCBI chr  X:11,758,159...11,775,772
Ensembl chr  X:11,758,159...11,775,772
JBrowse link
G MYH11 myosin heavy chain 11 IAGP OMIM:619350 HPO NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028
JBrowse link
G MYO1H myosin IH IAGP OMIM:619482 HPO NCBI chr12:109,310,468...109,448,379
Ensembl chr12:109,347,900...109,455,523
JBrowse link
G NGLY1 N-glycanase 1 IAGP ORPHA:404454 HPO NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP OMIM:619695 HPO NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G ODC1 ornithine decarboxylase 1 IAGP ORPHA:544488 HPO NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP OMIM:210000 HPO NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G OTUD6B OTU deubiquitinase 6B IAGP OMIM:617452 ORPHA:505237 HPO NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095
JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 IAGP OMIM:618458 HPO NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647
JBrowse link
G PCGF2 polycomb group ring finger 2 IAGP OMIM:618371 HPO NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817
JBrowse link
G PHOX2B paired like homeobox 2B IAGP OMIM:209880 HPO NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725
JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP ORPHA:468678 HPO NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494
JBrowse link
G POU4F1 POU class 4 homeobox 1 IAGP OMIM:619352 HPO NCBI chr13:78,598,362...78,603,552
Ensembl chr13:78,598,362...78,603,552
JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP OMIM:617506 HPO NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940
JBrowse link
G PPP1R21 protein phosphatase 1 regulatory subunit 21 IAGP OMIM:619383 HPO NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391
JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP OMIM:616362 HPO NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518
JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP OMIM:619636 HPO NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP OMIM:256040 HPO NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679
JBrowse link
G RAI1 retinoic acid induced 1 IAGP ORPHA:477817 HPO NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G RORA RAR related orphan receptor A IAGP OMIM:618060 HPO NCBI chr15:60,488,284...61,229,302
Ensembl chr15:60,488,284...61,229,302
JBrowse link
G SETD1A SET domain containing 1A, histone lysine methyltransferase IAGP OMIM:619056 HPO NCBI chr16:30,957,754...30,984,664
Ensembl chr16:30,957,754...30,984,664
JBrowse link
G SETD5 SET domain containing 5 IAGP ORPHA:404440 HPO NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP ORPHA:261222 HPO NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212
JBrowse link
G SLC12A2 solute carrier family 12 member 2 IAGP OMIM:619080 HPO NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
JBrowse link
G SLC38A3 solute carrier family 38 member 3 IAGP OMIM:619881 HPO NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486
JBrowse link
G SMO smoothened, frizzled class receptor IAGP OMIM:601707 HPO NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SNCA synuclein alpha IAGP ORPHA:411602 HPO NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
JBrowse link
G SPATA5 spermatogenesis associated 5 IAGP OMIM:616577 HPO NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433
JBrowse link
G SPOP speckle type BTB/POZ protein IAGP OMIM:618829 HPO NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163
JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit IAGP OMIM:619480 HPO NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019
JBrowse link
G TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 IAGP OMIM:618906 HPO NCBI chr17:62,966,235...63,427,703
Ensembl chr17:62,966,235...63,427,703
JBrowse link
G TAOK1 TAO kinase 1 IAGP OMIM:619575 HPO NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903
JBrowse link
G TBCD tubulin folding cofactor D IAGP ORPHA:496641 HPO NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914
JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP OMIM:301066 HPO NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP OMIM:213980 HPO NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP OMIM:142680 HPO NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TRIM8 tripartite motif containing 8 IAGP OMIM:619428 HPO NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,644,479...102,658,318
JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor IAGP OMIM:617061 OMIM:618825 ORPHA:476126 HPO NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A IAGP ORPHA:163956 HPO NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083
JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 IAGP OMIM:618744 HPO NCBI chr 2:63,840,969...63,891,560
Ensembl chr 2:63,840,952...63,891,562
JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP OMIM:300676 HPO NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998
JBrowse link
G USP7 ubiquitin specific peptidase 7 IAGP ORPHA:500055 HPO NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328
JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP OMIM:300919 HPO NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579
JBrowse link
G VPS35 VPS35 retromer complex component IAGP ORPHA:411602 HPO NCBI chr16:46,656,132...46,689,178
Ensembl chr16:46,656,132...46,689,518
JBrowse link
G WASF1 WASP family member 1 IAGP OMIM:618707 HPO NCBI chr 6:110,099,819...110,179,670
Ensembl chr 6:110,099,819...110,180,004
JBrowse link
G ZMYND11 zinc finger MYND-type containing 11 IAGP ClinVar Annotator: match by term: Infrequent bowel movements ClinVar PMID:25741868 NCBI chr10:130,088...254,637
Ensembl chr10:130,088...254,637
JBrowse link
G ZNF292 zinc finger protein 292 IAGP OMIM:619188 HPO NCBI chr 6:87,155,565...87,265,943
Ensembl chr 6:87,151,803...87,265,943
JBrowse link
Chronic diarrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase IAGP OMIM:102700 HPO NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
JBrowse link
G ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase IAGP ORPHA:79327 HPO NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379
JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP ORPHA:2176 HPO NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP ClinVar Annotator: match by term: Chronic diarrhea ClinVar PMID:25741868 NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP ORPHA:333 HPO NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G ATM ATM serine/threonine kinase IAGP OMIM:208900 HPO NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 IAGP OMIM:300972 HPO NCBI chr  X:154,428,677...154,436,516
Ensembl chr  X:154,428,633...154,436,516
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP OMIM:304150 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G BACH2 BTB domain and CNC homolog 2 IAGP OMIM:618394 HPO NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843
JBrowse link
G BTK Bruton tyrosine kinase IAGP OMIM:300755 HPO NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G C4B complement C4B (Chido blood group) IAGP OMIM:614379 HPO NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418
JBrowse link
G CARD8 caspase recruitment domain family member 8 IAGP OMIM:619079 HPO NCBI chr19:48,179,825...48,255,946
Ensembl chr19:48,180,770...48,255,946
JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP OMIM:618131 HPO NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569
JBrowse link
G CASP8 caspase 8 IAGP OMIM:607271 HPO NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,361,836
JBrowse link
G CCDC47 coiled-coil domain containing 47 IAGP OMIM:618268 HPO NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex IAGP OMIM:615607 HPO NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ORPHA:39041 HPO NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G CLMP CXADR like membrane protein IAGP OMIM:615237 HPO NCBI chr11:123,069,872...123,195,248
Ensembl chr11:123,069,872...123,195,248
JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP OMIM:613489 HPO NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560
JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP OMIM:614576 HPO NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,665
JBrowse link
G CR2 complement C3d receptor 2 IAGP OMIM:614699 HPO NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP ORPHA:909 HPO NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP OMIM:602450 HPO NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal IAGP OMIM:619858 HPO NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595
JBrowse link
G DOCK2 dedicator of cytokinesis 2 IAGP OMIM:616433 HPO NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382
JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP ORPHA:92050 HPO NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP OMIM:601675 HPO NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ETHE1 ETHE1 persulfide dioxygenase IAGP OMIM:602473 HPO NCBI chr19:43,506,719...43,527,201
Ensembl chr19:43,506,719...43,527,230
JBrowse link
G FCHO1 FCH and mu domain containing endocytic adaptor 1 IAGP OMIM:619164 HPO NCBI chr19:17,747,744...17,788,561
Ensembl chr19:17,747,718...17,788,568
JBrowse link
G FOXP3 forkhead box P3 IAGP OMIM:304790 HPO NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G GUCY2C guanylate cyclase 2C IAGP OMIM:614616 HPO NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599
JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP OMIM:620072 HPO NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272
JBrowse link
G HEXB hexosaminidase subunit beta IAGP OMIM:268800 HPO NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647
JBrowse link
G HYOU1 hypoxia up-regulated 1 IAGP OMIM:233600 HPO NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227
JBrowse link
G IDS iduronate 2-sulfatase IAGP ORPHA:217085 HPO NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096
JBrowse link
G IDUA alpha-L-iduronidase IAGP ORPHA:93473 HPO NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
JBrowse link
G IGHM immunoglobulin heavy constant mu IAGP OMIM:601495 HPO NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218
JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta IAGP OMIM:615592 HPO NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460
JBrowse link
G IL21R interleukin 21 receptor IAGP OMIM:615207 HPO NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP OMIM:606367 HPO NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP OMIM:300400 ORPHA:39041 HPO NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108
JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP OMIM:618523 HPO NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
JBrowse link
G IL7R interleukin 7 receptor IAGP ORPHA:169154 ORPHA:39041 HPO NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
JBrowse link
G IPO8 importin 8 IAGP OMIM:619472 HPO NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP OMIM:617765 HPO NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178
JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP OMIM:613385 HPO NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
JBrowse link
G ITGB2 integrin subunit beta 2 IAGP OMIM:116920 HPO NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989
JBrowse link
G JAK3 Janus kinase 3 IAGP OMIM:600802 HPO NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G KMT5B lysine methyltransferase 5B IAGP OMIM:617788 HPO NCBI chr11:68,154,863...68,213,648
Ensembl chr11:68,154,863...68,213,852
JBrowse link
G LIG4 DNA ligase 4 IAGP ORPHA:235 ORPHA:39041 HPO NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP OMIM:614700 HPO NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727
JBrowse link
G MADD MAP kinase activating death domain IAGP OMIM:619004 HPO NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
JBrowse link
G MGME1 mitochondrial genome maintenance exonuclease 1 IAGP OMIM:615084 HPO NCBI chr20:17,968,590...17,991,122
Ensembl chr20:17,969,018...17,991,122
JBrowse link
G MTTP microsomal triglyceride transfer protein IAGP ORPHA:14 HPO NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997
JBrowse link
G MVK mevalonate kinase IAGP OMIM:260920 HPO NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
JBrowse link
G NBN nibrin IAGP ORPHA:647 HPO NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP ORPHA:235 HPO NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity IAGP OMIM:617099 HPO NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,699,850
JBrowse link
G PERCC1 proline and glutamate rich with coiled coil 1 IAGP ORPHA:92050 HPO NCBI chr16:1,431,078...1,434,441
Ensembl chr16:1,431,078...1,434,441
JBrowse link
G PGM1 phosphoglucomutase 1 IAGP OMIM:614921 HPO NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP OMIM:619281 HPO NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP OMIM:616005 HPO NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
JBrowse link
G PKP1 plakophilin 1 IAGP ORPHA:158668 HPO NCBI chr 1:201,283,506...201,332,989
Ensembl chr 1:201,283,452...201,332,993
JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP OMIM:301220 HPO NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986
JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta IAGP OMIM:616355 HPO NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342
JBrowse link
G RAG1 recombination activating 1 IAGP ORPHA:39041 HPO NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
JBrowse link
G RAG2 recombination activating 2 IAGP ORPHA:39041 HPO NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 IAGP OMIM:615895 HPO NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139
JBrowse link
G REL REL proto-oncogene, NF-kB subunit IAGP OMIM:619652 HPO NCBI chr 2:60,881,574...60,931,612
Ensembl chr 2:60,881,491...60,931,612
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP ORPHA:39041 HPO NCBI chr 9:35,657,751...35,658,018
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G RNF113A ring finger protein 113A IAGP OMIM:300953 HPO NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733
JBrowse link
G SAA1 serum amyloid A1 IAGP ORPHA:85445 HPO NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977
JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP OMIM:617053 HPO NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023
JBrowse link
G SKIC2 SKI2 subunit of superkiller complex IAGP OMIM:614602 HPO NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818
JBrowse link
G SLC10A2 solute carrier family 10 member 2 IAGP OMIM:613291 HPO NCBI chr13:103,043,998...103,066,417
Ensembl chr13:103,043,998...103,066,417
JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP ORPHA:99843 HPO NCBI chr11:45,804,072...45,813,016
Ensembl chr11:45,804,072...45,813,016
JBrowse link
G SLC39A4 solute carrier family 39 member 4 IAGP ORPHA:37 HPO NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
JBrowse link
G SLC51A solute carrier family 51 subunit alpha IAGP OMIM:619484 HPO NCBI chr 3:196,216,534...196,233,427
Ensembl chr 3:196,211,487...196,243,178
JBrowse link
G SLC51B solute carrier family 51 subunit beta IAGP OMIM:619481 HPO NCBI chr15:65,045,387...65,053,397
Ensembl chr15:65,045,387...65,053,397
JBrowse link
G SLC5A1 solute carrier family 5 member 1 IAGP OMIM:606824 HPO NCBI chr22:32,043,261...32,113,029
Ensembl chr22:32,043,261...32,113,029
JBrowse link
G SON SON DNA and RNA binding protein IAGP OMIM:617140 HPO NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP OMIM:158310 HPO NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP ClinVar Annotator: match by term: Recurrent diarrhea ClinVar PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 More... NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
JBrowse link
G STX3 syntaxin 3 IAGP OMIM:619446 HPO NCBI chr11:59,754,188...59,805,878
Ensembl chr11:59,713,456...59,805,882
JBrowse link
G TCF3 transcription factor 3 IAGP OMIM:619824 HPO NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615
JBrowse link
G TERT telomerase reverse transcriptase IAGP OMIM:613989
ClinVar Annotator: match by term: Chronic diarrhea
HPO
ClinVar
PMID:25346280 PMID:25741868 PMID:28492532 PMID:30523342 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TFRC transferrin receptor IAGP OMIM:616740 HPO NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153
JBrowse link
G TKFC triokinase and FMN cyclase IAGP OMIM:618805 HPO NCBI chr11:61,333,228...61,353,426
Ensembl chr11:61,333,220...61,353,295
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP OMIM:142680 HPO NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TOM1 target of myb1 membrane trafficking protein IAGP OMIM:619510 HPO NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992
JBrowse link
G USP7 ubiquitin specific peptidase 7 IAGP ORPHA:500055 HPO NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP ORPHA:906 HPO NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP ORPHA:906 HPO NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
JBrowse link
G WNT2B Wnt family member 2B IAGP ClinVar Annotator: match by term: Recurrent diarrhea ClinVar PMID:29909964 NCBI chr 1:112,466,541...112,530,165
Ensembl chr 1:112,466,541...112,530,165
JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP ORPHA:911 HPO NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,739,862
JBrowse link
Constipation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP ORPHA:388 HPO NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755
JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP OMIM:617602 HPO NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
JBrowse link
G ACTG2 actin gamma 2, smooth muscle IAGP OMIM:155310 HPO NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865
JBrowse link
G ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide IAGP OMIM:168600 HPO NCBI chr 4:99,336,497...99,352,746
Ensembl chr 4:99,336,497...99,352,746
JBrowse link
G AFF4 ALF transcription elongation factor 4 IAGP OMIM:616368 HPO NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
JBrowse link
G ALAD aminolevulinate dehydratase IAGP ORPHA:100924 HPO NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290
JBrowse link
G ALDOB aldolase, fructose-bisphosphate B IAGP ORPHA:469 HPO NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IAGP OMIM:241500 HPO NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
JBrowse link
G AMN amnion associated transmembrane protein IAGP ORPHA:35858 HPO NCBI chr14:102,922,663...102,930,842
Ensembl chr14:102,922,663...102,933,596
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP ORPHA:99818 HPO NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP ORPHA:821 HPO NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
JBrowse link
G AQP2 aquaporin 2 IAGP OMIM:125800 ORPHA:223 HPO NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Dyschezia ClinVar PMID:15057123 PMID:22405089 PMID:25741868 PMID:27474218 PMID:28323383 More... NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP OMIM:617808 HPO NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP ORPHA:3157 HPO NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ORPHA:567 HPO NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G ATN1 atrophin 1 IAGP OMIM:618494 HPO NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP ORPHA:2131 HPO NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ORPHA:2131 HPO NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP ORPHA:388 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G ATRX ATRX chromatin remodeler IAGP OMIM:301040 OMIM:309580 ORPHA:847 HPO NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G ATXN2 ataxin 2 IAGP OMIM:168600 HPO NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
JBrowse link
G ATXN8OS ATXN8 opposite strand lncRNA IAGP OMIM:168600 HPO NCBI chr13:70,107,213...70,139,753
Ensembl chr13:70,107,213...70,171,738
JBrowse link
G AVPR2 arginine vasopressin receptor 2 IAGP OMIM:304800 ORPHA:223 HPO NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166
JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP ORPHA:904 HPO NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
JBrowse link
G BCL10 BCL10 immune signaling adaptor IAGP ORPHA:52417 HPO NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632
JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP ORPHA:904 HPO NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 IAGP ORPHA:52417 HPO NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,450...102,339,403
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP ORPHA:440437 HPO NCBI chr10:86,755,763...86,927,969
Ensembl chr10:86,756,601...86,932,825
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP OMIM:115150 HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP ORPHA:168829 HPO NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP ORPHA:904 HPO NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,025...73,705,161
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ORPHA:2131 HPO NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP OMIM:620029 HPO NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP ORPHA:79102 HPO NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451
JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 IAGP ORPHA:314647 HPO NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706
JBrowse link
G CASR calcium sensing receptor IAGP OMIM:239200 HPO NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
JBrowse link
G CASZ1 castor zinc finger 1 IAGP ORPHA:1606 HPO NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
JBrowse link
G CAVIN1 caveolae associated protein 1 IAGP OMIM:613327 HPO NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256
JBrowse link
G CD96 CD96 molecule IAGP ORPHA:1308 HPO NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750