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

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:Abnormal large intestine morphology
go back to main search page
Accession:HP:0002250 term browser browse the term
Definition:Any abnormality of the large intestine.
Comment:The large intestine comprises the cecum and colon.
Synonyms:exact_synonym: Abnormality of the large intestine
 xref: UMLS:C4025715


show annotations for term's descendants           Sort by:
Abnormal large intestine morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:93932 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MMP1 matrix metallopeptidase 1 severity IAGP DNA:insertion:promoter:g.-1607insG RGD PMID:11489811 RGD:7207022 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP3 matrix metallopeptidase 3 susceptibility IAGP DNA:insertion, haplotype:promoter:g.-1612insA RGD PMID:17125518 RGD:7207065 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:109 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RHBDF2 rhomboid 5 homolog 2 IAGP HPO ORPHA:2198 NCBI chr17:76,470,893...76,501,427
Ensembl chr17:76,470,891...76,501,790 		JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 IAGP DNA:snp:exon:c.558A>C (rs11078458) RGD PMID:20042636 RGD:7183081 NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812 		JBrowse link
Abnormal large intestinal mucosa morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPCAM epithelial cell adhesion molecule IAGP HPO ORPHA:92050 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G PERCC1 proline and glutamate rich with coiled coil 1 IAGP HPO ORPHA:92050 NCBI chr16:1,431,078...1,434,441
Ensembl chr16:1,431,078...1,434,441 		JBrowse link
Abnormal rectum morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX7B cytochrome c oxidase subunit 7B IAGP HPO ORPHA:2556 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO ORPHA:2556 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity IAGP DNA:transition:cds:g.677C>T RGD PMID:21865946 RGD:6893664 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2556 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO PMID:20080219 MIM:239300 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
Adenocarcinoma of the colon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein IAGP HPO ORPHA:79501 NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:124 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Adenocarcinoma of the colon ClinVar PMID:24033266 PMID:24728327 PMID:25741868 PMID:27978560 PMID:28492532 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:157794 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G COL14A1 collagen type XIV alpha 1 chain IAGP HPO ORPHA:79501 NCBI chr 8:120,124,454...120,373,573
Ensembl chr 8:120,059,780...120,373,573 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:124 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist IAGP HPO ORPHA:157794 NCBI chr15:32,718,004...32,745,106
Ensembl chr15:32,718,004...32,745,106 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO ORPHA:124 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G MAD1L1 mitotic arrest deficient 1 like 1 IAGP HPO PMID:36322655 MIM:620189 NCBI chr 7:1,815,795...2,232,945
Ensembl chr 7:1,815,793...2,233,243 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO PMID:24440087 MIM:276300 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Adenocarcinoma of the colon ClinVar PMID:25741868 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP HPO ORPHA:247798 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO ORPHA:447877 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO ORPHA:447877 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G RAD54L RAD54 like IAGP ClinVar Annotator: match by term: Adenocarcinoma of the colon ClinVar PMID:10362365 NCBI chr 1:46,247,688...46,278,473
Ensembl chr 1:46,246,461...46,278,480 		JBrowse link
G RPL11 ribosomal protein L11 IAGP HPO ORPHA:124 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G RPL15 ribosomal protein L15 IAGP HPO ORPHA:124 NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374 		JBrowse link
G RPL18 ribosomal protein L18 IAGP HPO ORPHA:124 NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184 		JBrowse link
G RPL26 ribosomal protein L26 IAGP HPO ORPHA:124 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
G RPL27 ribosomal protein L27 IAGP HPO ORPHA:124 NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959 		JBrowse link
G RPL31 ribosomal protein L31 IAGP HPO ORPHA:124 NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032 		JBrowse link
G RPL35 ribosomal protein L35 IAGP HPO ORPHA:124 NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981 		JBrowse link
G RPL35A ribosomal protein L35a IAGP HPO ORPHA:124 NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610 		JBrowse link
G RPL5 ribosomal protein L5 IAGP HPO ORPHA:124 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPL8 ribosomal protein L8 IAGP HPO ORPHA:124 NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587 		JBrowse link
G RPL9 ribosomal protein L9 IAGP HPO ORPHA:124 NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931 		JBrowse link
G RPS10 ribosomal protein S10 IAGP HPO ORPHA:124 NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069 		JBrowse link
G RPS15A ribosomal protein S15a IAGP HPO ORPHA:124 NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383 		JBrowse link
G RPS17 ribosomal protein S17 IAGP HPO ORPHA:124 NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO ORPHA:124 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:124 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G RPS24 ribosomal protein S24 IAGP HPO ORPHA:124 NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813 		JBrowse link
G RPS26 ribosomal protein S26 IAGP HPO ORPHA:124 NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RPS27 ribosomal protein S27 IAGP HPO ORPHA:124 NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155 		JBrowse link
G RPS28 ribosomal protein S28 IAGP HPO ORPHA:124 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340 		JBrowse link
G RPS29 ribosomal protein S29 IAGP HPO ORPHA:124 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164 		JBrowse link
G RPS7 ribosomal protein S7 IAGP HPO ORPHA:124 NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP DNA:SNPs:introns: (rs2280232, rs4327257) RGD PMID:22121102 RGD:153323313 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP DNA:SNPs:introns: (rs12949918, rs6503695) RGD PMID:22121102 RGD:153323313 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT5A signal transducer and activator of transcription 5A IAGP DNA:SNP:intron: (rs7217728) RGD PMID:22121102 RGD:153323313 NCBI chr17:42,287,439...42,311,943
Ensembl chr17:42,287,547...42,311,943 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP DNA:SNPs:introns: (rs6503691, rs7218653) RGD PMID:22121102 RGD:153323313 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 IAGP DNA:SNP:3' utr: (rs324015) RGD PMID:22121102 RGD:153323313 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP HPO ORPHA:124 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032 		JBrowse link
Adenocarcinoma of the large intestine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPR35 G protein-coupled receptor 35 IAGP HPO ORPHA:171 NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159 		JBrowse link
G MST1 macrophage stimulating 1 IAGP HPO ORPHA:171 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501 		JBrowse link
G SEMA4D semaphorin 4D IAGP HPO ORPHA:171 NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:171 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
Adenomatous colonic polyposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Multiple colonic adenomatous polyps ClinVar
HPO		 PMID:25741868 PMID:31062380 MIM:175100 ORPHA:247806 ORPHA:261584 ORPHA:79665 ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G AXIN2 axin 2 IAGP HPO PMID:15042511 PMID:21416598 MIM:608615 ORPHA:401911 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO PMID:16525031 MIM:610069 ORPHA:157794 ORPHA:329971 ORPHA:79076 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G ENG endoglin IAGP HPO ORPHA:329971 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO PMID:16951683 MIM:613244 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist IAGP HPO ORPHA:157794 NCBI chr15:32,718,004...32,745,106
Ensembl chr15:32,718,004...32,745,106 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase IAGP HPO PMID:35460607 MIM:619975 NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO PMID:24440087 MIM:276300 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MSH3 mutS homolog 3 IAGP HPO PMID:27476653 MIM:617100 ORPHA:480536 NCBI chr 5:80,654,652...80,876,815
Ensembl chr 5:80,654,652...80,876,815 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP HPO MIM:608456 ORPHA:247798 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G NTHL1 nth like DNA glycosylase 1 IAGP HPO PMID:25938944 MIM:616415 ORPHA:454840 NCBI chr16:2,039,820...2,047,834
Ensembl chr16:2,039,815...2,047,866 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP HPO PMID:7661930 MIM:619101 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO ORPHA:447877 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO ORPHA:447877 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:79076 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTGIS prostaglandin I2 synthase susceptibility IAGP DNA:repeats:promoter: RGD PMID:16537708 RGD:151347835 NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137 		JBrowse link
G RNF43 ring finger protein 43 IAGP HPO ORPHA:157798 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:329971 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
Aganglionic megacolon 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 HPO ORPHA:388 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ACTG2 actin gamma 2, smooth muscle IAGP HPO MIM:155310 ORPHA:2604 NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865 		JBrowse link
G AHI1 Abelson helper integration site 1 IAGP HPO ORPHA:220493 ORPHA:475 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ARL13B ARF like GTPase 13B IAGP HPO ORPHA:475 NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678 		JBrowse link
G ARL3 ARF like GTPase 3 IAGP HPO ORPHA:475 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397 		JBrowse link
G ARL6 ARF like GTPase 6 IAGP HPO MIM:209900 ORPHA:110 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G ARMC9 armadillo repeat containing 9 IAGP HPO ORPHA:475 NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G ARX aristaless related homeobox IAGP HPO ORPHA:452 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ASCL1 achaete-scute family bHLH transcription factor 1 IAGP HPO ORPHA:99803 NCBI chr12:102,957,674...102,960,513
Ensembl chr12:102,957,674...102,960,513 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:388 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 HPO ORPHA:847 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G AXIN2 axin 2 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:21626677 PMID:25260786 PMID:25637381 PMID:25741868 PMID:27696107 More... NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648 		JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:475 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO ORPHA:475 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BBIP1 BBSome interacting protein 1 IAGP HPO ORPHA:110 NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO MIM:209900 ORPHA:110 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IAGP HPO ORPHA:110 NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP HPO ORPHA:110 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO ORPHA:110 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP HPO ORPHA:110 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006 		JBrowse link
G BBS5 Bardet-Biedl syndrome 5 IAGP HPO ORPHA:110 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655 		JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP HPO ORPHA:110 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO ORPHA:110 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO MIM:309800 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BDNF brain derived neurotrophic factor IAGP HPO ORPHA:661 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G CBY1 chibby 1, beta catenin antagonist IAGP HPO ORPHA:475 NCBI chr22:38,656,638...38,673,850
Ensembl chr22:38,656,636...38,673,854 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:2318 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CCDC28B coiled-coil domain containing 28B IAGP HPO MIM:209900 NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453 		JBrowse link
G CEP104 centrosomal protein 104 IAGP HPO ORPHA:475 NCBI chr 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO ORPHA:220493 ORPHA:475 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP19 centrosomal protein 19 IAGP HPO ORPHA:110 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:110 ORPHA:2318 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP41 centrosomal protein 41 IAGP HPO ORPHA:220493 ORPHA:475 NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433 		JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO ORPHA:110 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201 		JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO ORPHA:475 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:475 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP HPO ORPHA:3338 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DDX59 DEAD-box helicase 59 IAGP HPO PMID:23972372 MIM:174300 ORPHA:2919 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907 		JBrowse link
G DENND3 DENN domain containing 3 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 8:141,128,589...141,195,804
Ensembl chr 8:141,117,278...141,195,808 		JBrowse link
G DEPDC1 DEP domain containing 1 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:68,474,152...68,497,082
Ensembl chr 1:68,474,152...68,497,221 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO PMID:9024558 MIM:270400 ORPHA:818 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DPPA5 developmental pluripotency associated 5 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 6:73,353,063...73,354,276
Ensembl chr 6:73,353,063...73,354,276 		JBrowse link
G DSCAM DS cell adhesion molecule IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr21:40,010,999...40,847,158
Ensembl chr21:40,010,999...40,847,158 		JBrowse link
G ECE1 endothelin converting enzyme 1 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar
HPO		 PMID:9915973 MIM:613870 ORPHA:388 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 ClinVar Annotator: match by term: Hirschsprung disease ClinVar
HPO		 PMID:8696331 PMID:9359047 PMID:10231870 PMID:19556619 PMID:24033266 More... MIM:613265 MIM:613712 ORPHA:388 ORPHA:661 ORPHA:897 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 ClinVar Annotator: match by term: Hirschsprung disease ClinVar
HPO		 PMID:7778600 PMID:8001158 PMID:25741868 MIM:277580 MIM:600155 MIM:600501 ORPHA:388 ORPHA:895 ORPHA:897 NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529 		JBrowse link
G EDNRB-AS1 EDNRB antisense RNA 1 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:25741868 NCBI chr13:77,818,937...77,908,442
Ensembl chr13:77,779,723...77,908,445 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP HPO ORPHA:388 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 HPO PMID:33497358 MIM:243180 ORPHA:388 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G F5 coagulation factor V IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FANCL FA complementation group L IAGP HPO ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FMN2 formin 2 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:240,091,883...240,475,187
Ensembl chr 1:240,014,348...240,475,187 		JBrowse link
G FOXF1 forkhead box F1 IAGP HPO ORPHA:210122 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G GDNF glial cell derived neurotrophic factor IAGP HPO PMID:8896568 MIM:613711 ORPHA:388 ORPHA:661 NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041 		JBrowse link
G GFRA1 GDNF family receptor alpha 1 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr10:116,056,925...116,274,705
Ensembl chr10:116,056,925...116,276,803 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO ORPHA:475 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO ORPHA:110 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT27 intraflagellar transport 27 IAGP HPO ORPHA:110 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO ORPHA:110 ORPHA:475 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:28492532 NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO ORPHA:220493 ORPHA:475 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G IQCF5 IQ motif containing F5 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 3:51,873,721...51,875,601
Ensembl chr 3:51,873,721...51,875,601 		JBrowse link
G IQCF5-AS1 IQCF5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 3:51,873,596...51,875,767
Ensembl chr 3:51,873,596...51,875,767 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KATNIP katanin interacting protein IAGP HPO ORPHA:475 NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:475 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO ORPHA:475 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIFBP kinesin family binding protein IAGP HPO PMID:15883926 PMID:23427148 MIM:609460 ORPHA:66629 NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO MIM:172800 ORPHA:2884 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G KITLG KIT ligand IAGP HPO ORPHA:895 NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:3339 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar
HPO		 PMID:16650080 PMID:28492532 MIM:304100 ORPHA:1497 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G LBX1 ladybird homeobox 1 IAGP HPO ORPHA:661 NCBI chr10:101,226,994...101,229,463
Ensembl chr10:101,226,994...101,229,463 		JBrowse link
G LOC110121502 VISTA enhancer hs2326 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:15829955 PMID:20598273 PMID:25741868 PMID:28492532 NCBI chr10:43,086,364...43,087,440 JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO ORPHA:110 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811 		JBrowse link
G MAN2A2 mannosidase alpha class 2A member 2 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr15:90,902,382...90,922,585
Ensembl chr15:90,902,218...90,922,584 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO MIM:308205 ORPHA:2273 ORPHA:85284 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MCS+9.7 RET intron 1 enhancer IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:15829955 PMID:20598273 PMID:25741868 PMID:28492532 NCBI chr10:43,086,364...43,087,263 JBrowse link
G MED15 mediator complex subunit 15 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr22:20,507,610...20,587,619
Ensembl chr22:20,495,913...20,587,632 		JBrowse link
G MGAM2 maltase-glucoamylase 2 (putative) IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 7:142,111,718...142,222,324
Ensembl chr 7:142,111,718...142,222,324 		JBrowse link
G MITF melanocyte inducing transcription factor IAGP HPO ORPHA:895 ORPHA:897 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO MIM:236700 ORPHA:110 ORPHA:2473 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:110 ORPHA:220493 ORPHA:475 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:25741868 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYO1H myosin IH IAGP HPO ORPHA:661 NCBI chr12:109,310,468...109,448,379
Ensembl chr12:109,347,900...109,455,523 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO MIM:309800 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NOTCH4 notch receptor 4 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:110 ORPHA:220497 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NRG3 neuregulin 3 IAGP ClinVar Annotator: match by term: Hirschsprung disease
ClinVar Annotator: match by term: Aganglionic megacolon 		ClinVar PMID:25741868 PMID:28492532 NCBI chr10:81,875,194...82,987,179
Ensembl chr10:81,875,194...82,987,179 		JBrowse link
G NRTN neurturin IAGP HPO ORPHA:388 NCBI chr19:5,805,067...5,828,324
Ensembl chr19:5,805,067...5,828,324 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NTF3 neurotrophin 3 IAGP ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:25741868 NCBI chr12:5,430,332...5,495,299
Ensembl chr12:5,432,108...5,521,536 		JBrowse link
G NUP98 nucleoporin 98 and 96 precursor IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr11:3,675,010...3,797,554
Ensembl chr11:3,671,083...3,797,792 		JBrowse link
G OAS3 2'-5'-oligoadenylate synthetase 3 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr12:112,938,474...112,973,251
Ensembl chr12:112,938,051...112,976,460 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:475 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:28492532 NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PAX3 paired box 3 IAGP HPO MIM:148820 ORPHA:894 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO ORPHA:475 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272 		JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP HPO PMID:23561847 MIM:614207 ORPHA:247262 NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP HPO ORPHA:247262 NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797 		JBrowse link
G PHAX phosphorylated adaptor for RNA export IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 5:126,600,947...126,627,252
Ensembl chr 5:126,600,925...126,627,252 		JBrowse link
G PHOX2B paired like homeobox 2B IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar
HPO		 PMID:12640453 PMID:14566559 PMID:15121777 MIM:209880 MIM:613013 ORPHA:2151 ORPHA:661 ORPHA:99803 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725 		JBrowse link
G PHRF1 PHD and ring finger domains 1 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr11:576,470...612,222
Ensembl chr11:576,470...612,222 		JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP HPO ORPHA:475 NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:247262 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:2059 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar
HPO		 PMID:22683086 PMID:25741868 MIM:614749 ORPHA:247262 NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,085,493...35,096,619 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO PMID:20080219 MIM:239300 ORPHA:247262 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W IAGP HPO ORPHA:247262 NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO ORPHA:247262 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G POLR2F RNA polymerase II, I and III subunit F IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr22:37,953,663...38,041,915
Ensembl chr22:37,952,607...38,041,915 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PROKR1 prokineticin receptor 1 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 2:68,643,579...68,658,251
Ensembl chr 2:68,643,579...68,658,251 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G RAD51C RAD51 paralog C IAGP HPO ORPHA:84 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Hirschsprung disease
ClinVar Annotator: match by term: Aganglionic megacolon 		ClinVar
HPO		 PMID:7581377 PMID:7633441 PMID:7647787 PMID:7849720 PMID:7874109 More... MIM:142623 MIM:162300 MIM:171400 ORPHA:388 ORPHA:99803 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO PMID:8444246 MIM:250250 ORPHA:175 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO ORPHA:220497 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO PMID:12395297 MIM:607323 ORPHA:959 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP HPO ORPHA:110 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444 		JBrowse link
G SCLT1 sodium channel and clathrin linker 1 IAGP HPO ORPHA:110 NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO ORPHA:110 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G SEMA3C semaphorin 3C IAGP HPO ORPHA:388 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 ClinVar Annotator: match by term: Hirschsprung disease ClinVar
HPO		 PMID:25741868 PMID:28492532 ORPHA:388 NCBI chr 7:84,995,553...85,250,243
Ensembl chr 7:84,995,553...85,187,056 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO MIM:154400 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP HPO ORPHA:261222 NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212 		JBrowse link
G SLC22A1 solute carrier family 22 member 1 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 6:160,121,815...160,158,718
Ensembl chr 6:160,121,815...160,158,718 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP HPO MIM:300352 ORPHA:52503 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO ORPHA:388 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SNAI2 snail family transcriptional repressor 2 IAGP HPO ORPHA:2884 ORPHA:895 NCBI chr 8:48,917,598...48,921,429
Ensembl chr 8:48,917,598...48,921,740 		JBrowse link
G SNF8 SNF8 subunit of ESCRT-II IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr17:48,929,316...48,944,842
Ensembl chr17:48,929,316...48,944,842 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar
HPO		 PMID:10762540 MIM:609136 MIM:613266 ORPHA:163746 ORPHA:895 ORPHA:897 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP HPO ORPHA:388 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:475 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TBATA thymus, brain and testes associated IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr10:70,771,238...70,785,377
Ensembl chr10:70,771,238...70,785,401 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:2896 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TCTN1 tectonic family member 1 IAGP HPO ORPHA:475 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO ORPHA:475 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:475 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TMEM138 transmembrane protein 138 IAGP HPO ORPHA:2318 NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890 		JBrowse link
G TMEM165 transmembrane protein 165 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,957...55,453,397 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO ORPHA:2318 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM218 transmembrane protein 218 IAGP HPO ORPHA:475 NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:2318 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO ORPHA:220497 ORPHA:2318 ORPHA:475 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:475 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP HPO ORPHA:475 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO ORPHA:110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO ORPHA:110 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:171680 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TYR tyrosinase IAGP HPO ORPHA:895 NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G VCL vinculin IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363 		JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP HPO ORPHA:110 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr17:1,344,275...1,400,222
Ensembl chr17:1,344,275...1,400,222 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar
HPO		 PMID:12920073 PMID:26156877 PMID:29300384 MIM:235730 ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZNF423 zinc finger protein 423 IAGP HPO ORPHA:2318 NCBI chr16:49,487,524...49,859,279
Ensembl chr16:49,487,524...49,857,919 		JBrowse link
G ZNF592 zinc finger protein 592 IAGP ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr15:84,748,592...84,806,445
Ensembl chr15:84,748,592...84,806,445 		JBrowse link
Anal canal squamous carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOCK8 dedicator of cytokinesis 8 IAGP HPO ORPHA:217390 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
Anorectal abscess term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRP68 signal recognition particle 68 IAGP HPO PMID:32273475 MIM:620534 NCBI chr17:76,038,785...76,072,517
Ensembl chr17:76,038,775...76,072,517 		JBrowse link
Appendicitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Appendicitis ClinVar PMID:11230481 PMID:15320968 PMID:16384843 PMID:16849421 PMID:18058472 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
Chronic colitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP ClinVar Annotator: match by term: Chronic colitis ClinVar PMID:25741868 NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569 		JBrowse link
Colitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BACH2 BTB domain and CNC homolog 2 IAGP HPO PMID:28530713 MIM:618394 NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843 		JBrowse link
G BCL10 BCL10 immune signaling adaptor IAGP HPO PMID:25365219 MIM:616098 NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP HPO PMID:29479355 MIM:618131 NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569 		JBrowse link
G CASP10 caspase 10 IAGP HPO ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Colitis ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP ClinVar Annotator: match by term: Colitis ClinVar
HPO		 PMID:25741868 PMID:28492532 MIM:209920 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G ELF4 E74 like ETS transcription factor 4 IAGP HPO PMID:34326534 MIM:301074 NCBI chr  X:130,063,955...130,111,927
Ensembl chr  X:130,063,955...130,110,716 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP HPO ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FCHO1 FCH and mu domain containing endocytic adaptor 1 IAGP HPO PMID:30822429 MIM:619164 NCBI chr19:17,747,744...17,788,561
Ensembl chr19:17,747,718...17,788,568 		JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO ORPHA:2908 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Colitis ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FOXP3 forkhead box P3 IAGP HPO ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 IAGP HPO MIM:615947 NCBI chr 8:143,213,218...143,217,170
Ensembl chr 8:143,213,218...143,217,170 		JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 IAGP HPO MIM:203300 NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,410,939...98,446,963 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha IAGP HPO PMID:22476154 MIM:613148 NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037 		JBrowse link
G IVNS1ABP influenza virus NS1A binding protein IAGP HPO PMID:32499645 MIM:618969 NCBI chr 1:185,296,388...185,317,243
Ensembl chr 1:185,292,931...185,317,273 		JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO PMID:22608502 MIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G LYN LYN proto-oncogene, Src family tyrosine kinase IAGP HPO PMID:36932076 MIM:620376 NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 IAGP HPO PMID:19692703 MIM:613960 NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO PMID:30336224 MIM:619281 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IAGP HPO PMID:31554793 MIM:619802 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP HPO PMID:27019227 MIM:301220 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986 		JBrowse link
G PRF1 perforin 1 IAGP HPO ORPHA:540 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G PSMB10 proteasome 20S subunit beta 10 IAGP HPO PMID:38503300 MIM:620807 NCBI chr16:67,934,506...67,936,850
Ensembl chr16:67,934,506...67,936,864 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO PMID:25845478 MIM:604416 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO MIM:615190 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G SHARPIN SHANK associated RH domain interactor IAGP HPO PMID:38609546 MIM:620795 NCBI chr 8:144,098,637...144,103,773
Ensembl chr 8:144,098,633...144,108,124 		JBrowse link
G SKIC2 SKI2 subunit of superkiller complex IAGP HPO PMID:18982349 PMID:22444670 MIM:614602 ORPHA:84064 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 HPO ORPHA:84064 NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050 		JBrowse link
G STX11 syntaxin 11 IAGP HPO ORPHA:540 NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939 		JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP HPO PMID:29776323 MIM:613101 ORPHA:540 NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873 		JBrowse link
G SYK spleen associated tyrosine kinase IAGP ClinVar Annotator: match by term: Colitis ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:33782605 MIM:619381 NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 IAGP HPO PMID:26642243 MIM:616744 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314 		JBrowse link
G UNC13D unc-13 homolog D IAGP HPO ORPHA:540 NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785 		JBrowse link
G XIAP X-linked inhibitor of apoptosis IAGP HPO MIM:300635 ORPHA:538934 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972 		JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP HPO PMID:26783323 MIM:617006 ORPHA:911 NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,744,327 		JBrowse link
Colon cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G AKAP9 A-kinase anchoring protein 9 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: Colorectal cancer
ClinVar Annotator: match by term: Colon carcinoma 		ClinVar PMID:9536098 PMID:17576681 PMID:17611497 PMID:18954143 PMID:21793738 More... NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar PMID:28492532 PMID:34549727 PMID:34771502 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G AOPEP aminopeptidase O (putative) IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:25058500 PMID:27165003 NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Colon cancer
ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar
HPO		 PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1651563 More... MIM:135290 MIM:175100 ORPHA:247806 ORPHA:261584 ORPHA:79665 ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Colon cancer
ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar PMID:100011 PMID:8845835 PMID:9443866 PMID:9792409 PMID:9887333 More... NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G AURKA aurora kinase A IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar PMID:25741868 NCBI chr20:56,369,390...56,392,215
Ensembl chr20:56,369,389...56,392,337 		JBrowse link
G AXIN2 axin 2 IAGP ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar
HPO		 PMID:9536098 PMID:11017067 PMID:12101426 PMID:15042511 PMID:16199547 More... MIM:608615 ORPHA:401911 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648 		JBrowse link
G BARD1 BRCA1 associated RING domain 1 IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:19197335 PMID:20077502 PMID:25741868 PMID:26350354 PMID:26467025 More... NCBI chr 2:214,725,646...214,809,683
Ensembl chr 2:214,725,646...214,809,683 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:9020077 PMID:9453486 PMID:9531611 PMID:10984511 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798 		JBrowse link
G BCL10 BCL10 immune signaling adaptor IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:9989495 NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632 		JBrowse link
G BLM BLM RecQ like helicase IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar PMID:25741868 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar
HPO		 PMID:12417513 PMID:14526373 PMID:15235019 PMID:16525031 PMID:18823382 More... MIM:174900 MIM:610069 ORPHA:157794 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar PMID:9536098 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 More... 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 ClinVar Annotator: match by term: Colorectal cancer
ClinVar Annotator: match by term: Colon carcinoma 		ClinVar
HPO		 PMID:25741868 PMID:26295337 PMID:26467025 PMID:28492532 PMID:30209399 More... ORPHA:1333 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Colorectal cancer
ClinVar Annotator: match by term: Colon carcinoma 		ClinVar
HPO		 PMID:11030418 PMID:12491487 PMID:15744044 PMID:15937982 PMID:15983021 More... ORPHA:1333 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 IAGP ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar PMID:16116423 PMID:16280053 PMID:17033622 PMID:18483852 PMID:21964575 More... NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar
HPO		 PMID:9521327 ORPHA:1052 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar
HPO		 PMID:9521327 PMID:9916837 PMID:15475955 PMID:18548531 PMID:20516114 More... ORPHA:1052 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G BUB1B-PAK6 BUB1B-PAK6 readthrough IAGP ClinVar Annotator: match by term: Colorectal cancer
ClinVar Annotator: match by term: Colon carcinoma 		ClinVar PMID:15475955 PMID:18548531 PMID:20516114 PMID:24728327 PMID:25741868 More... NCBI chr15:40,217,428...40,277,487
Ensembl chr15:40,218,500...40,264,890
Ensembl chr15:40,218,500...40,264,890 		JBrowse link
G BUB3 BUB3 mitotic checkpoint protein IAGP HPO ORPHA:1052 NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467 		JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar PMID:100011 PMID:8845835 PMID:9443866 PMID:9887333 PMID:10330348 More... NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531 		JBrowse link
G C1S complement C1s IAGP HPO PMID:27745832 MIM:617174 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032 		JBrowse link
G CDH1 cadherin 1 IAGP ClinVar Annotator: match by term: Colorectal cancer
ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colon cancer 		ClinVar PMID:15235021 PMID:16924464 PMID:17545690 PMID:19268661 PMID:20233471 More... NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:1333 ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO ORPHA:1052 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Colorectal cancer
ClinVar Annotator: match by term: Colon carcinoma 		ClinVar
HPO		 PMID:2797856 PMID:3313277 PMID:10617473 PMID:11053450 PMID:11298456 More... ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CTNNA1 catenin alpha 1 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar PMID:28492532 PMID:32051609 PMID:34425242 NCBI chr 5:138,753,425...138,935,034
Ensembl chr 5:138,610,967...138,935,034 		JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar PMID:9065402 PMID:9294210 PMID:9500465 PMID:9927029 PMID:10192393 More... NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 susceptibility IAGP DNA:SNPs:introns:IVS5-162T>C, IVS4-66T>G, (rs6013905), (rs4809958)
DNA:SNPs:introns: (rs4809960, rs6022999)
DNA:SNPs:multiple 		RGD PMID:19706847 PMID:31740231 PMID:28811712 RGD:151665174, RGD:151665338, RGD:151665177 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G DCC DCC netrin 1 receptor IAGP ClinVar Annotator: match by term: Colorectal cancer
ClinVar Annotator: match by term: Colon carcinoma 		ClinVar PMID:8188295 PMID:25741868 PMID:28492532 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G DLC1 DLC1 Rho GTPase activating protein IAGP ClinVar Annotator: match by term: Colorectal cancer
ClinVar Annotator: match by term: Colon carcinoma 		ClinVar PMID:9536098 PMID:10649492 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 8:13,083,361...13,604,620
Ensembl chr 8:13,083,361...13,604,610 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Colorectal cancer
ClinVar Annotator: match by term: Colon carcinoma 		ClinVar PMID:10700188 PMID:15706485 PMID:18414213 PMID:24476420 PMID:24728327 More... NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar
HPO		 PMID:16951683 MIM:613244 ORPHA:144 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G FANCC FA complementation group C IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:25058500 PMID:27165003 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCE FA complementation group E IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:25058500 PMID:25741868 PMID:27165003 PMID:28492532 PMID:34687117 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCI FA complementation group I IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Colorectal cancer
ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colon cancer 		ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLCN folliculin IAGP ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar
HPO		 PMID:9536098 PMID:12204536 PMID:12471204 PMID:12843323 PMID:15805188 More... MIM:135150 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:25741868 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G FOXE1 forkhead box E1 IAGP HPO ORPHA:319487 NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		JBrowse link
G FZD3 frizzled class receptor 3 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr 8:28,494,212...28,574,258
Ensembl chr 8:28,494,205...28,574,267 		JBrowse link
G GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar PMID:25637381 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:98,807,670...98,850,081
Ensembl chr 9:98,807,670...98,850,081 		JBrowse link
G GEN1 GEN1 Holliday junction 5' flap endonuclease IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr 2:17,753,278...17,788,946
Ensembl chr 2:17,753,858...17,788,946 		JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist IAGP ClinVar Annotator: match by term: COLON CANCER ClinVar
HPO		 ORPHA:157794 NCBI chr15:32,718,004...32,745,106
Ensembl chr15:32,718,004...32,745,106 		JBrowse link
G HABP2 hyaluronan binding protein 2 IAGP HPO ORPHA:319487 NCBI chr10:113,550,831...113,589,602
Ensembl chr10:113,550,837...113,589,602 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphism: :HLA-DQA1*0201 (human) RGD PMID:11972882 RGD:126925990 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HTRA1 HtrA serine peptidase 1 disease_progression IAGP DNA:SNP:cds: (rs1049331) (human) RGD PMID:32218415 RGD:152985527 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G INS-IGF2 INS-IGF2 readthrough IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209 		JBrowse link
G KCNB2 potassium voltage-gated channel subfamily B member 2 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr 8:72,537,225...72,938,349
Ensembl chr 8:72,537,225...72,938,349 		JBrowse link
G KDR kinase insert domain receptor IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:1333 ORPHA:144 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar PMID:9065402 PMID:9294210 PMID:9500465 PMID:9927029 PMID:10192393 More... NCBI chr 3:41,224,408...41,225,607 JBrowse link
G LOC126806659 BRD4-independent group 4 enhancer GRCh37_chr3:41274918-41276117 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 3:41,233,427...41,234,626 JBrowse link
G LOC126807632 CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:180046831-180048030 IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar NCBI chr 5:180,619,831...180,621,030 JBrowse link
G LOC126860202 BRD4-independent group 4 enhancer GRCh37_chr7:140493623-140494822 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar PMID:24920063 PMID:25741868 PMID:28492532 NCBI chr 7:140,793,823...140,795,022 JBrowse link
G LOC126860305 MED14-independent group 3 enhancer GRCh37_chr8:12947375-12948574 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:13,089,866...13,091,065 JBrowse link
G LOC126862278 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:7629446-7630645 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr16:7,579,444...7,580,643 JBrowse link
G LOC126862571 BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:25741868 PMID:26295337 PMID:26467025 PMID:28492532 PMID:31911673 More... NCBI chr17:43,091,119...43,092,318 JBrowse link
G LOC129933707 ATAC-STARR-seq lymphoblastoid silent region 11468 IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar NCBI chr 2:47,783,478...47,783,637 JBrowse link
G LOC129933708 ATAC-STARR-seq lymphoblastoid silent region 11469 IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar NCBI chr 2:47,783,838...47,783,927 JBrowse link
G LOC129994371 ATAC-STARR-seq lymphoblastoid active region 22910 IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:112,707,478...112,707,537 JBrowse link
G LOC130009266 ATAC-STARR-seq lymphoblastoid silent region 5123 IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:25637381 PMID:25741868 PMID:26467025 PMID:27244218 PMID:28492532 NCBI chr12:132,686,793...132,688,102 JBrowse link
G LOC130056830 ATAC-STARR-seq lymphoblastoid active region 9236 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr15:40,161,203...40,161,302 JBrowse link
G LOC130062899 ATAC-STARR-seq lymphoblastoid active region 13597 IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:14623934 PMID:15121768 PMID:25186949 PMID:25741868 PMID:26467025 More... NCBI chr19:1,223,046...1,223,255 JBrowse link
G MAPK14 mitogen-activated protein kinase 14 susceptibility IAGP DNA:SNP:intron: (rs10807156)
DNA:SNP:intron: (rs851016) 		RGD PMID:23859041 PMID:23027623 RGD:150573807, RGD:13217411 NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,752...36,122,511 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase IAGP HPO PMID:35460607 MIM:619975 NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179 		JBrowse link
G MCC MCC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar NCBI chr 5:113,022,106...113,488,453
Ensembl chr 5:113,022,106...113,488,823 		JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP HPO ORPHA:319487 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		JBrowse link
G MLH1 mutL homolog 1 IAGP ClinVar Annotator: match by term: Colon cancer
ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar
HPO		 PMID:7757073 PMID:8145827 PMID:8521398 PMID:8566964 PMID:8571956 More... MIM:158320 MIM:609310 ORPHA:144 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MLH3 mutL homolog 3 IAGP ClinVar Annotator: match by term: Colorectal cancer
ClinVar Annotator: match by term: Colon carcinoma 		ClinVar PMID:11317354 PMID:16199547 PMID:25741868 PMID:28492532 PMID:29212164 More... NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532 		JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Colon cancer
ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar
HPO		 PMID:187139 PMID:625353 PMID:3258778 PMID:3616036 PMID:6096739 More... MIM:120435 MIM:158320 MIM:619096 ORPHA:144 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH3 mutS homolog 3 IAGP HPO ORPHA:480536 NCBI chr 5:80,654,652...80,876,815
Ensembl chr 5:80,654,652...80,876,815 		JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar
HPO		 PMID:1548301 PMID:3049887 PMID:8838326 PMID:9345684 PMID:9536098 More... MIM:619097 ORPHA:144 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:9299504 PMID:9806551 PMID:10519336 PMID:10521313 PMID:13298683 More... NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colon cancer
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar
HPO		 PMID:517270 PMID:2914711 PMID:9536098 PMID:11051386 PMID:11295288 More... MIM:608456 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G MYO1B myosin IB IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr 2:191,245,404...191,425,386
Ensembl chr 2:191,245,185...191,425,389 		JBrowse link
G NBN nibrin IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:11325820 PMID:14559852 PMID:15338273 PMID:16474176 PMID:16810201 More... NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO PMID:7607663 PMID:8664912 PMID:9101303 PMID:29290338 PMID:36659944 MIM:162200 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar PMID:29018201 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Colorectal cancer
ClinVar Annotator: match by term: Colon carcinoma 		ClinVar PMID:3102434 PMID:17671181 PMID:18633438 PMID:22220252 PMID:23325582 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NTHL1 nth like DNA glycosylase 1 IAGP HPO PMID:25938944 MIM:616415 ORPHA:454840 NCBI chr16:2,039,820...2,047,834
Ensembl chr16:2,039,815...2,047,866 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar
HPO		 PMID:3040479 PMID:17200668 PMID:17200671 PMID:17200672 PMID:17420451 More... ORPHA:1333 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 HPO ORPHA:1333 NCBI chr 4:168,497,052...168,928,441
Ensembl chr 4:168,497,052...168,928,457 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PDGFRL platelet derived growth factor receptor like IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:7898930 NCBI chr 8:17,576,433...17,643,144
Ensembl chr 8:17,576,433...17,644,071 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar
HPO		 PMID:15016963 PMID:15520168 PMID:15608678 PMID:15930273 PMID:17376864 More... ORPHA:144 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar PMID:22351933 PMID:25133428 PMID:25741868 PMID:28492532 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP ClinVar Annotator: match by term: Colon cancer ClinVar PMID:12846734 PMID:14741187 PMID:15805161 PMID:21493627 PMID:25646624 More... NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar
HPO		 MIM:120435 ORPHA:144 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 ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colon cancer 		ClinVar
HPO		 PMID:285143 PMID:2402700 PMID:9536098 PMID:9683794 PMID:10037723 More... MIM:619101 ORPHA:144 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP ClinVar Annotator: match by term: Colon cancer
ClinVar Annotator: match by term: Colorectal cancer
ClinVar Annotator: match by term: Colon carcinoma 		ClinVar PMID:15322521 PMID:15766587 PMID:19966286 PMID:23263490 PMID:25032700 More... NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit susceptibility
onset 		IAGP DNA:missense mutation:CDS, exon 9:p.P286R
ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer
ClinVar Annotator: match by term: Colon cancer
DNA:mutations:multiple (human, non-Asian) 		ClinVar
RGD		 PMID:15766587 PMID:16199547 PMID:23230001 PMID:24033266 PMID:24480973 More... RGD:151347640, RGD:151347651, RGD:151347649 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:10394368 PMID:25741868 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:10555148 PMID:12372056 PMID:21194675 PMID:21659347 PMID:21956414 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTPN12 protein tyrosine phosphatase non-receptor type 12 IAGP ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar PMID:7509295 NCBI chr 7:77,537,295...77,640,069
Ensembl chr 7:77,537,295...77,640,069 		JBrowse link
G PTPRJ protein tyrosine phosphatase receptor type J IAGP ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar PMID:12089527 PMID:25741868 PMID:33116287 NCBI chr11:47,980,559...48,170,839
Ensembl chr11:47,980,425...48,170,839 		JBrowse link
G RABL3 RAB, member of RAS oncogene family like 3 IAGP HPO ORPHA:1333 NCBI chr 3:120,684,938...120,742,680
Ensembl chr 3:120,684,938...120,742,993 		JBrowse link
G RAD51C RAD51 paralog C IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:16199547 PMID:20400964 PMID:21537932 PMID:21990120 PMID:22538716 More... NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RAD51D RAD51 paralog D IAGP ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar PMID:21822267 PMID:22986143 PMID:24130102 PMID:25445424 PMID:25741868 More... NCBI chr17:35,092,221...35,119,860
Ensembl chr17:35,092,221...35,121,522 		JBrowse link
G RAD51L3-RFFL RAD51L3-RFFL readthrough IAGP ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar PMID:21822267 PMID:22986143 PMID:24130102 PMID:25445424 PMID:25741868 More... NCBI chr17:35,009,112...35,121,522 JBrowse link
G RAD52 RAD52 homolog, DNA repair protein susceptibility IAGP DNA:SNPs:3'utr: (rs1051669, rs11571475) (human) RGD PMID:26735576 RGD:151361212 NCBI chr12:911,736...991,122
Ensembl chr12:911,736...990,053 		JBrowse link
G RAD54B RAD54 homolog B IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:10362364 NCBI chr 8:94,371,960...94,475,115
Ensembl chr 8:94,371,960...94,475,115 		JBrowse link
G RBFOX1 RNA binding fox-1 homolog 1 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr16:5,239,721...7,713,340
Ensembl chr16:5,239,802...7,713,340 		JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G REV3L REV3 like, DNA directed polymerase zeta catalytic subunit IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:25058500 PMID:27165003 NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715 		JBrowse link
G RMI1 RecQ mediated genome instability 1 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr 9:83,980,359...84,004,074
Ensembl chr 9:83,980,798...84,004,074 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO PMID:35923690 MIM:105650 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G SCG5 secretogranin V IAGP ClinVar Annotator: match by term: COLON CANCER ClinVar NCBI chr15:32,641,710...32,697,092
Ensembl chr15:32,641,676...32,697,098 		JBrowse link
G SEMA4A semaphorin 4A IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar PMID:24265693 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752 		JBrowse link
G SGK2 serum/glucocorticoid regulated kinase 2 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr20:43,559,027...43,585,627
Ensembl chr20:43,558,968...43,588,237 		JBrowse link
G SLC9A9 solute carrier family 9 member A9 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr 3:143,265,222...143,848,468
Ensembl chr 3:143,265,222...143,848,485 		JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Colon carcinoma
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar
HPO		 PMID:9582123 PMID:10398437 PMID:11920286 PMID:15235019 PMID:16152648 More... MIM:174900 ORPHA:1333 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMAD7 SMAD family member 7 IAGP HPO PMID:17934461 PMID:18372901 PMID:18372905 MIM:612229 NCBI chr18:48,919,853...48,950,965
Ensembl chr18:48,919,853...48,950,965 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP DNA:SNPs:introns: (rs2280232, rs4327257) RGD PMID:22121102 RGD:153323313 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP DNA:SNPs:introns: (rs6503691, rs7218653) (human) RGD PMID:22121102 RGD:153323313 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 ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:14623934 PMID:15121768 PMID:25186949 PMID:25741868 PMID:26467025 More... NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TCERG1 transcription elongation regulator 1 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar NCBI chr 5:146,447,330...146,511,961
Ensembl chr 5:146,447,311...146,511,961 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:144 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TLR2 toll like receptor 2 IAGP ClinVar Annotator: match by term: Colorectal cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TOE1 target of EGR1, exonuclease IAGP ClinVar Annotator: match by term: Colon carcinoma ClinVar PMID:18271935 PMID:25741868 PMID:28492532 NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Colorectal cancer
ClinVar Annotator: match by term: Colon carcinoma 		ClinVar
HPO		 PMID:224644 PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 More... MIM:151623 ORPHA:1333 ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:1052 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP ClinVar Annotator: match by term: Colon cancer
ClinVar Annotator: match by term: Colorectal cancer 		ClinVar PMID:23054243 PMID:25637381 PMID:25741868 PMID:26467025 PMID:27233470 More... NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
Colonic atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX7B cytochrome c oxidase subunit 7B IAGP HPO PMID:16059943 MIM:309801 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO PMID:16059943 MIM:309801 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO PMID:16059943 MIM:309801 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP HPO PMID:15137007 MIM:243150 NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137 		JBrowse link
Colonic diverticula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO MIM:615109 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP HPO PMID:32006683 MIM:620780 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO PMID:20089974 MIM:194050 ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP HPO MIM:243180 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 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 HPO ORPHA:904 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 HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO MIM:158320 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO PMID:20089974 MIM:194050 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Colonic diverticula HPO
ClinVar		 PMID:12624141 PMID:27601186 PMID:28492532 PMID:28577310 PMID:33357406 MIM:158320 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO MIM:615108 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP HPO MIM:173900 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO PMID:10852545 MIM:603041 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO MIM:158350 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RET ret proto-oncogene IAGP HPO MIM:162300 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 HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO PMID:28803389 MIM:147060 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Colonic diverticula ClinVar PMID:16969106 PMID:17567834 PMID:19556618 PMID:19711436 PMID:19714490 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TYMP thymidine phosphorylase IAGP HPO PMID:10852545 MIM:603041 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO MIM:243800 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
Colonic eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP HPO PMID:28368018 MIM:617718 NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816 		JBrowse link
G CARD11 caspase recruitment domain family member 11 IAGP HPO PMID:28628108 MIM:617638 NCBI chr 7:2,906,142...3,043,867
Ensembl chr 7:2,906,142...3,044,228 		JBrowse link
G JAK1 Janus kinase 1 IAGP HPO PMID:32750333 MIM:618999 NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754 		JBrowse link
Colorectal polyposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:201 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO PMID:10782927 MIM:135290 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Colorectal polyposis ClinVar PMID:25741868 PMID:28492532 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G AXIN2 axin 2 IAGP HPO ORPHA:401911 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:157794 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Colorectal polyposis ClinVar PMID:25741868 PMID:28492532 NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP HPO ORPHA:276399 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G ELN elastin IAGP ClinVar Annotator: match by term: Colorectal polyposis ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist IAGP HPO ORPHA:157794 NCBI chr15:32,718,004...32,745,106
Ensembl chr15:32,718,004...32,745,106 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 IAGP HPO ORPHA:276399 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO ORPHA:201 NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MSH3 mutS homolog 3 IAGP HPO ORPHA:480536 NCBI chr 5:80,654,652...80,876,815
Ensembl chr 5:80,654,652...80,876,815 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP HPO ORPHA:247798 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:201 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO PMID:23263490 MIM:612591 ORPHA:447877 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO MIM:615083 ORPHA:447877 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:201 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RNF43 ring finger protein 43 IAGP HPO ORPHA:157798 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:201 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:201 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:201 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO ORPHA:201 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Colorectal polyposis HPO
ClinVar		 PMID:12826609 PMID:20978130 PMID:24549055 PMID:25741868 PMID:28492532 More... ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G USF3 upstream transcription factor family member 3 IAGP HPO ORPHA:201 NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646 		JBrowse link
Enterocolitis 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 HPO ORPHA:388 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:388 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO PMID:32554502 MIM:301108 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G ECE1 endothelin converting enzyme 1 IAGP HPO ORPHA:388 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 HPO ORPHA:388 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 HPO ORPHA:388 NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529 		JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:2686 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP HPO ORPHA:388 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 HPO ORPHA:388 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G GDNF glial cell derived neurotrophic factor IAGP HPO ORPHA:388 NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha IAGP HPO PMID:19890111 MIM:613148 NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037 		JBrowse link
G IL10RB interleukin 10 receptor subunit beta IAGP HPO PMID:19890111 MIM:612567 NCBI chr21:33,266,367...33,310,182
Ensembl chr21:33,266,367...33,311,420 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 IAGP HPO PMID:25217960 MIM:616050 NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO PMID:32554502 MIM:620425 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G NRTN neurturin IAGP HPO ORPHA:388 NCBI chr19:5,805,067...5,828,324
Ensembl chr19:5,805,067...5,828,324 		JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing IAGP HPO MIM:260005 NCBI chr 8:144,050,322...144,063,961
Ensembl chr 8:144,051,266...144,063,965 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IAGP HPO PMID:31554793 MIM:619802 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980 		JBrowse link
G PLCG2 phospholipase C gamma 2 IAGP HPO PMID:23000145 MIM:614878 NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,738,248...81,962,685 		JBrowse link
G RET ret proto-oncogene IAGP HPO MIM:142623 ORPHA:388 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SEMA3C semaphorin 3C IAGP HPO ORPHA:388 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 HPO ORPHA:388 NCBI chr 7:84,995,553...85,250,243
Ensembl chr 7:84,995,553...85,187,056 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO ORPHA:388 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP HPO ORPHA:388 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 HPO ORPHA:391487 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP HPO PMID:23830146 MIM:243150 NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137 		JBrowse link
Focal active colitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOCK2 dedicator of cytokinesis 2 IAGP HPO PMID:26083206 MIM:616433 NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382 		JBrowse link
Hereditary nonpolyposis colorectal carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO MIM:114500 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO MIM:114500 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G AURKA aurora kinase A IAGP HPO MIM:114500 NCBI chr20:56,369,390...56,392,215
Ensembl chr20:56,369,389...56,392,337 		JBrowse link
G AXIN2 axin 2 IAGP HPO MIM:114500 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator IAGP HPO MIM:114500 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:114500 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO MIM:114500 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO MIM:114500 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G CCND1 cyclin D1 IAGP HPO MIM:114500 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO MIM:114500 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO MIM:114500 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G DLC1 DLC1 Rho GTPase activating protein IAGP HPO MIM:114500 NCBI chr 8:13,083,361...13,604,620
Ensembl chr 8:13,083,361...13,604,610 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:114500 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO PMID:16951683 MIM:613244 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G FANCM FA complementation group M IAGP ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23409019 PMID:23932590 More... NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:114500 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLCN folliculin IAGP HPO MIM:114500 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188 		JBrowse link
G MCC MCC regulator of WNT signaling pathway IAGP HPO MIM:114500 NCBI chr 5:113,022,106...113,488,453
Ensembl chr 5:113,022,106...113,488,823 		JBrowse link
G MLH1 mutL homolog 1 IAGP ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma ClinVar PMID:25741868 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MLH3 mutL homolog 3 IAGP HPO MIM:114500 MIM:614385 NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532 		JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma ClinVar PMID:11179758 PMID:15849733 PMID:15955785 PMID:16395668 PMID:16736289 More... NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma ClinVar
HPO		 PMID:9354786 PMID:14520694 PMID:19851887 PMID:24440087 PMID:25741868 More... MIM:614350 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:114500 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G PDGFRL platelet derived growth factor receptor like IAGP HPO MIM:114500 NCBI chr 8:17,576,433...17,643,144
Ensembl chr 8:17,576,433...17,644,071 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO MIM:114500 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PLA2G2A phospholipase A2 group IIA IAGP HPO MIM:114500 NCBI chr 1:19,975,431...19,980,434
Ensembl chr 1:19,975,431...19,980,416 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma ClinVar PMID:25741868 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 HPO MIM:614337 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO PMID:23263490 MIM:612591 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G PTPN12 protein tyrosine phosphatase non-receptor type 12 IAGP HPO MIM:114500 NCBI chr 7:77,537,295...77,640,069
Ensembl chr 7:77,537,295...77,640,069 		JBrowse link
G PTPRJ protein tyrosine phosphatase receptor type J IAGP HPO MIM:114500 NCBI chr11:47,980,559...48,170,839
Ensembl chr11:47,980,425...48,170,839 		JBrowse link
G RAD54B RAD54 homolog B IAGP HPO MIM:114500 NCBI chr 8:94,371,960...94,475,115
Ensembl chr 8:94,371,960...94,475,115 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase IAGP HPO MIM:114500 NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO PMID:9590282 MIM:614331 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TLR2 toll like receptor 2 IAGP HPO MIM:114500 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TP53 tumor protein p53 IAGP HPO MIM:114500 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
Inflammation of the large intestine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 IAGP HPO MIM:612244 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G ALPI alkaline phosphatase, intestinal IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:25741868 NCBI chr 2:232,456,153...232,460,753
Ensembl chr 2:232,456,125...232,460,753 		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 ARL6 ARF like GTPase 6 IAGP HPO ORPHA:110 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP HPO PMID:28368018 MIM:617718 NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816 		JBrowse link
G BBIP1 BBSome interacting protein 1 IAGP HPO ORPHA:110 NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO ORPHA:110 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IAGP HPO ORPHA:110 NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP HPO ORPHA:110 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO ORPHA:110 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP HPO ORPHA:110 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006 		JBrowse link
G BBS5 Bardet-Biedl syndrome 5 IAGP HPO ORPHA:110 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655 		JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP HPO ORPHA:110 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO ORPHA:110 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		JBrowse link
G C1orf116 chromosome 1 open reading frame 116 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,018,522...207,032,756
Ensembl chr 1:207,018,522...207,032,756 		JBrowse link
G C4BPA complement component 4 binding protein alpha IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,104,233...207,144,972
Ensembl chr 1:207,104,233...207,144,972 		JBrowse link
G C4BPB complement component 4 binding protein beta IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,088,860...207,099,993
Ensembl chr 1:207,088,860...207,099,993 		JBrowse link
G CD34 CD34 molecule IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,880,972...207,911,125
Ensembl chr 1:207,880,972...207,911,402 		JBrowse link
G CD46 CD46 molecule IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 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 ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804 		JBrowse link
G CEP19 centrosomal protein 19 IAGP HPO ORPHA:110 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:110 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO ORPHA:110 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP HPO PMID:24998929 PMID:31980904 MIM:615032 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Inflammation of the large intestine ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP ClinVar Annotator: match by term: Inflammation of the large intestine ClinVar PMID:25741868 PMID:28492532 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP HPO PMID:26260076 MIM:614576 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,666 		JBrowse link
G CR1 complement C3b/C4b receptor 1 (Knops blood group) IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,496,157...207,641,765
Ensembl chr 1:207,496,147...207,641,765 		JBrowse link
G CR1L complement C3b/C4b receptor 1 like IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,645,133...207,723,703
Ensembl chr 1:207,645,113...207,738,416 		JBrowse link
G CR2 complement C3d receptor 2 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:436159 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G DCLRE1B DNA cross-link repair 1B IAGP HPO PMID:35007328 MIM:620133 NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,904,619...113,914,086 		JBrowse link
G ELF4 E74 like ETS transcription factor 4 IAGP HPO PMID:34326534 MIM:301074 NCBI chr  X:130,063,955...130,111,927
Ensembl chr  X:130,063,955...130,110,716 		JBrowse link
G F13A1 coagulation factor XIII A chain IAGP HPO ORPHA:331 NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013 		JBrowse link
G F13B coagulation factor XIII B chain IAGP HPO ORPHA:331 NCBI chr 1:197,038,741...197,067,260
Ensembl chr 1:197,038,741...197,067,260 		JBrowse link
G FCAMR Fc alpha and mu receptor IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:206,957,967...206,970,638
Ensembl chr 1:206,957,965...206,970,625 		JBrowse link
G FCMR Fc mu receptor IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:206,903,317...206,923,196
Ensembl chr 1:206,903,317...206,923,247 		JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO ORPHA:2908 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Inflammation of the large intestine ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FXN frataxin IAGP HPO ORPHA:95 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO MIM:106300 ORPHA:29207 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 HPO MIM:181000 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 IAGP HPO MIM:203300 NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,410,939...98,446,963 		JBrowse link
G IFNAR2-IL10RB IFNAR2-IL10RB readthrough IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:25741868 NCBI chr21:33,229,938...33,297,221
Ensembl chr21:33,229,892...33,297,160 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO ORPHA:110 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT27 intraflagellar transport 27 IAGP HPO ORPHA:110 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO ORPHA:110 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO ORPHA:98813 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IL10 interleukin 10 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:9536098 PMID:11121048 PMID:14657422 PMID:14657427 PMID:17576681 More... NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037 		JBrowse link
G IL10RB interleukin 10 receptor subunit beta IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:25741868 NCBI chr21:33,266,367...33,310,182
Ensembl chr21:33,266,367...33,311,420 		JBrowse link
G IL19 interleukin 19 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:9536098 PMID:11121048 PMID:14657422 PMID:14657427 PMID:17576681 More... NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 RGD PMID:8119534 RGD:6909136 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL20 interleukin 20 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:206,863,565...206,869,223
Ensembl chr 1:206,865,623...206,869,223 		JBrowse link
G IL21 interleukin 21 IAGP HPO PMID:24746753 MIM:615767 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066 		JBrowse link
G IL24 interleukin 24 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:206,897,443...206,904,139
Ensembl chr 1:206,897,443...206,904,139 		JBrowse link
G IL37 interleukin 37 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:33674380 NCBI chr 2:112,911,165...112,918,882
Ensembl chr 2:112,911,165...112,918,882 		JBrowse link
G IL6 interleukin 6 IAGP HPO MIM:266600 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IRGM immunity related GTPase M IAGP HPO MIM:612278 NCBI chr 5:150,846,521...150,902,402
Ensembl chr 5:150,846,521...150,900,736 		JBrowse link
G KRT8 keratin 8 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:15090596 PMID:25741868 NCBI chr12:52,897,191...52,949,860
Ensembl chr12:52,897,187...52,949,954 		JBrowse link
G LOC128462409 CRISPRi-FlowFISH-validated IL10 regulatory element GRCh37_chr1:206945468-206946089 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:206,772,123...206,772,744 JBrowse link
G LOC129932369 ATAC-STARR-seq lymphoblastoid active region 2419 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:206,770,934...206,771,123 JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO PMID:22608502 MIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO ORPHA:110 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:3243 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MIR29B2CHG MIR29B2 and MIR29C host gene IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,801,518...207,822,703
Ensembl chr 1:207,760,650...207,879,121 		JBrowse link
G MIR29C microRNA 29c IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,801,852...207,801,939
Ensembl chr 1:207,801,852...207,801,939 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO ORPHA:110 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:110 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G NCF2 neutrophil cytosolic factor 2 IAGP HPO PMID:10498624 MIM:233710 NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905 		JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP HPO ORPHA:98813 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO MIM:266600 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:110 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,034,416...207,081,027
Ensembl chr 1:207,034,366...207,081,024 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO PMID:34415310 MIM:619708 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIGR polymeric immunoglobulin receptor IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:206,928,522...206,946,466
Ensembl chr 1:206,928,522...206,946,466 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO PMID:30336224 MIM:619281 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PLXNA2 plexin A2 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:208,022,242...208,244,384
Ensembl chr 1:208,022,242...208,244,384 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IAGP HPO ORPHA:3243 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316 		JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 IAGP HPO PMID:23104095 MIM:615895 NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139 		JBrowse link
G RIPK1 receptor interacting serine/threonine kinase 1 IAGP HPO PMID:30026316 MIM:618108 NCBI chr 6:3,063,967...3,115,187
Ensembl chr 6:3,063,824...3,115,187 		JBrowse link
G RNF43 ring finger protein 43 exacerbates IAGP associated with Colitis-Associated Neoplasms;DNA:mutations:multiple: RGD PMID:29416670 RGD:151361225 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595 		JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP HPO ORPHA:110 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444 		JBrowse link
G SCLT1 sodium channel and clathrin linker 1 IAGP HPO ORPHA:110 NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO ORPHA:110 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO PMID:9686363 PMID:32838757 MIM:232220 MIM:232240 ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SLC9A3 solute carrier family 9 member A3 IAGP HPO PMID:26358773 MIM:616868 NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO ORPHA:110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO ORPHA:110 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO MIM:301000 ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP HPO ORPHA:110 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916 		JBrowse link
G XIAP X-linked inhibitor of apoptosis IAGP HPO MIM:300635 ORPHA:538934 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972 		JBrowse link
G YOD1 YOD1 deubiquitinase IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,043,849...207,053,116
Ensembl chr 1:207,043,849...207,052,980 		JBrowse link
Long-segment aganglionic megacolon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDNF glial cell derived neurotrophic factor IAGP HPO PMID:8968758 MIM:613711 NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO PMID:10762540 MIM:609136 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
Lymphocytic infiltration of the colorectal mucosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO PMID:25213377 MIM:616100 ORPHA:436159 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
Lymphoid nodular hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEPACAM hepatic and glial cell adhesion molecule IAGP HPO ORPHA:210548 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:210548 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
Malrotation of colon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B IAGP HPO ORPHA:1190 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:93932 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO MIM:122470 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO MIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
Megacolon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229 		JBrowse link
G ABCF1 ATP binding cassette subfamily F member 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,571,442...30,591,522
Ensembl chr 6:30,571,393...30,597,179 		JBrowse link
G ABHD16A abhydrolase domain containing 16A, phospholipase IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,686,955...31,703,324
Ensembl chr 6:31,686,955...31,703,356 		JBrowse link
G AGAP6 ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:49,988,368...50,010,499
Ensembl chr10:49,982,190...50,011,654 		JBrowse link
G AHNAK AHNAK nucleoprotein IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:62,433,544...62,546,806
Ensembl chr11:62,433,542...62,556,235 		JBrowse link
G AIF1 allograft inflammatory factor 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,615,234...31,617,015
Ensembl chr 6:31,615,217...31,617,021 		JBrowse link
G AIFM3 AIF family member 3 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,965,172...20,981,358
Ensembl chr22:20,965,108...20,981,360 		JBrowse link
G AKT3 AKT serine/threonine kinase 3 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397 		JBrowse link
G APOM apolipoprotein M IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,652,404...31,658,210
Ensembl chr 6:31,652,416...31,658,210 		JBrowse link
G APPBP2 amyloid beta precursor protein binding protein 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:60,443,158...60,526,242
Ensembl chr17:60,443,158...60,526,242 		JBrowse link
G ARHGAP22 Rho GTPase activating protein 22 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:48,429,831...48,656,265
Ensembl chr10:48,446,036...48,656,265 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G ASAH2 N-acylsphingosine amidohydrolase 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:50,184,861...50,251,516
Ensembl chr10:50,182,778...50,279,720 		JBrowse link
G ATAT1 alpha tubulin acetyltransferase 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,626,874...30,646,821
Ensembl chr 6:30,626,842...30,646,823 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:215,312,059...215,368,592
Ensembl chr 2:215,311,956...215,349,773 		JBrowse link
G ATP6V1C2 ATPase H+ transporting V1 subunit C2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:10,720,943...10,785,110
Ensembl chr 2:10,721,100...10,785,110 		JBrowse link
G ATP6V1G2 ATPase H+ transporting V1 subunit G2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,544,444...31,546,742
Ensembl chr 6:31,544,444...31,548,427 		JBrowse link
G BAG6 BAG cochaperone 6 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,639,028...31,652,661
Ensembl chr 6:31,639,028...31,652,705 		JBrowse link
G BCAS3 BCAS3 microtubule associated cell migration factor IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:60,677,851...61,392,831
Ensembl chr17:60,677,453...61,392,838 		JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G C10orf53 chromosome 10 open reading frame 53 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:49,679,651...49,710,261
Ensembl chr10:49,679,651...49,710,261 		JBrowse link
G C10orf71 chromosome 10 open reading frame 71 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:49,297,050...49,327,492
Ensembl chr10:49,299,170...49,327,492 		JBrowse link
G C1orf174 chromosome 1 open reading frame 174 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 1:3,889,133...3,900,272
Ensembl chr 1:3,889,125...3,900,293 		JBrowse link
G C22orf39 chromosome 22 open reading frame 39 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,440,886...19,447,711
Ensembl chr22:19,351,368...19,447,711 		JBrowse link
G C2CD4B C2 calcium dependent domain containing 4B IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr15:62,163,535...62,165,285
Ensembl chr15:62,163,535...62,165,285 		JBrowse link
G C4orf46 chromosome 4 open reading frame 46 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 4:158,666,675...158,672,056
Ensembl chr 4:158,666,675...158,672,255 		JBrowse link
G C6orf136 chromosome 6 open reading frame 136 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,647,133...30,653,207
Ensembl chr 6:30,647,039...30,653,210 		JBrowse link
G C6orf15 chromosome 6 open reading frame 15 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,111,223...31,112,575
Ensembl chr 6:31,111,223...31,112,575 		JBrowse link
G C6orf47 chromosome 6 open reading frame 47 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,658,298...31,660,778
Ensembl chr 6:31,658,298...31,660,778 		JBrowse link
G CA4 carbonic anhydrase 4 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:60,149,973...60,179,021
Ensembl chr17:60,149,942...60,170,899 		JBrowse link
G CASC15 cancer susceptibility 15 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:21,666,413...22,195,820
Ensembl chr 6:21,664,184...22,654,455 		JBrowse link
G CCDC102B coiled-coil domain containing 102B IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr18:68,715,216...69,058,121
Ensembl chr18:68,715,209...69,055,189 		JBrowse link
G CCDST cervical cancer associated DHX9 suppressive transcript IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 1:152,189,303...152,366,692
Ensembl chr 1:152,165,553...152,445,456 		JBrowse link
G CCHCR1 coiled-coil alpha-helical rod protein 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,142,439...31,158,197
Ensembl chr 6:31,142,439...31,158,238 		JBrowse link
G CDC45 cell division cycle 45 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CDH17 cadherin 17 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 8:94,127,162...94,217,278
Ensembl chr 8:94,127,162...94,217,303 		JBrowse link
G CDSN corneodesmosin IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,115,087...31,120,446
Ensembl chr 6:31,115,087...31,120,446 		JBrowse link
G CEP83 centrosomal protein 83 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr12:94,265,662...94,460,454
Ensembl chr12:94,306,449...94,459,988 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CHAT choline O-acetyltransferase IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942 		JBrowse link
G CHCT1 CHD1 helical C-terminal domain containing 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:60,421,214...60,431,426
Ensembl chr17:60,392,429...60,431,426 		JBrowse link
G CLDN18 claudin 18 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 3:137,998,816...138,033,649
Ensembl chr 3:137,998,735...138,033,655 		JBrowse link
G CLDN5 claudin 5 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,523,024...19,525,337
Ensembl chr22:19,523,024...19,527,545 		JBrowse link
G CLTCL1 clathrin heavy chain like 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,179,473...19,291,719
Ensembl chr22:19,179,473...19,291,719 		JBrowse link
G CMC4 C-X9-C motif containing 4 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr  X:155,061,622...155,071,136
Ensembl chr  X:155,061,622...155,071,136 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COMT catechol-O-methyltransferase IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G CRISP2 cysteine rich secretory protein 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:49,676,652...49,714,220
Ensembl chr 6:49,692,358...49,713,590 		JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747 		JBrowse link
G CSNK2B casein kinase 2 beta IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,666,080...31,670,067
Ensembl chr 6:31,665,227...31,670,343 		JBrowse link
G CTXND1 cortexin domain containing 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr15:80,195,481...80,252,213
Ensembl chr15:80,195,481...80,252,213 		JBrowse link
G DDR1 discoidin domain receptor tyrosine kinase 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,880,970...30,900,156
Ensembl chr 6:30,876,421...30,900,156 		JBrowse link
G DDX39B DExD-box helicase 39B IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,530,226...31,542,003
Ensembl chr 6:31,530,219...31,542,448 		JBrowse link
G DES desmin IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DFFB DNA fragmentation factor subunit beta IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 1:3,857,476...3,885,429
Ensembl chr 1:3,857,267...3,885,429 		JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454 		JBrowse link
G DGCR6 DiGeorge syndrome critical region gene 6 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238 		JBrowse link
G DGCR6L DiGeorge syndrome critical region gene 6 like IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,314,238...20,320,060
Ensembl chr22:20,314,238...20,320,080 		JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877 		JBrowse link
G DHX16 DEAH-box helicase 16 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,653,127...30,673,006
Ensembl chr 6:30,653,119...30,673,006 		JBrowse link
G DNAH12 dynein axonemal heavy chain 12 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 3:57,293,700...57,556,034
Ensembl chr 3:57,293,699...57,544,344 		JBrowse link
G DRGX dorsal root ganglia homeobox IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:49,364,066...49,396,089
Ensembl chr10:49,364,066...49,396,089 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ESS2 ess-2 splicing factor homolog IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 4:158,672,296...158,709,623
Ensembl chr 4:158,671,968...158,710,742 		JBrowse link
G FAM170B family with sequence similarity 170 member B IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:49,131,154...49,134,021
Ensembl chr10:49,131,154...49,134,021 		JBrowse link
G FAM230A family with sequence similarity 230 member A IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:18,421,384...18,500,594
Ensembl chr22:18,233,500...18,500,594 		JBrowse link
G FAM25C family with sequence similarity 25 member C IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:47,995,322...47,999,791
Ensembl chr10:47,995,322...47,999,791 		JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 3:59,747,277...61,251,452
Ensembl chr 3:59,747,277...61,251,459 		JBrowse link
G FLG filaggrin IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 1:152,302,165...152,325,239
Ensembl chr 1:152,302,165...152,325,239 		JBrowse link
G FLOT1 flotillin 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,727,709...30,742,687
Ensembl chr 6:30,727,709...30,742,732 		JBrowse link
G FN1 fibronectin 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G FOXK1 forkhead box K1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:4,682,295...4,771,442
Ensembl chr 7:4,682,295...4,771,442 		JBrowse link
G FRMPD2 FERM and PDZ domain containing 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:48,156,559...48,274,895
Ensembl chr10:48,153,088...48,274,696 		JBrowse link
G FUNDC2 FUN14 domain containing 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr  X:155,026,844...155,060,304
Ensembl chr  X:155,025,980...155,060,304 		JBrowse link
G GABBR1 gamma-aminobutyric acid type B receptor subunit 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,602,238...29,633,183
Ensembl chr 6:29,555,629...29,633,976 		JBrowse link
G GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:152,025,674...152,122,340
Ensembl chr 7:152,025,674...152,122,340 		JBrowse link
G GEM GTP binding protein overexpressed in skeletal muscle IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 8:94,249,253...94,262,319
Ensembl chr 8:94,249,253...94,262,350 		JBrowse link
G GGT2P gamma-glutamyltransferase 2, pseudogene IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:21,207,976...21,259,684
Ensembl chr22:21,207,973...21,225,554 		JBrowse link
G GGTLC3 gamma-glutamyltransferase light chain family member 3 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:18,516,338...18,518,166
Ensembl chr22:18,516,344...18,518,161 		JBrowse link
G GNB1L G protein subunit beta 1 like IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,783,223...19,854,874
Ensembl chr22:19,783,223...19,854,939 		JBrowse link
G GNL1 G protein nucleolar 1 (putative) IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,541,381...30,556,489
Ensembl chr 6:30,541,381...30,556,489 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GPANK1 G-patch domain and ankyrin repeats 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,661,228...31,666,283
Ensembl chr 6:31,661,228...31,666,283 		JBrowse link
G GPX5 glutathione peroxidase 5 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,525,881...28,534,955
Ensembl chr 6:28,525,881...28,534,955 		JBrowse link
G GPX6 glutathione peroxidase 6 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,503,296...28,515,793
Ensembl chr 6:28,503,296...28,528,215 		JBrowse link
G GSC2 goosecoid homeobox 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,146,993...19,150,292
Ensembl chr22:19,146,993...19,150,292 		JBrowse link
G GTF2H4 general transcription factor IIH subunit 4 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,908,207...30,914,106
Ensembl chr 6:30,908,207...30,914,106 		JBrowse link
G GUCA1C guanylate cyclase activator 1C IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 3:108,907,792...108,955,195
Ensembl chr 3:108,907,792...108,953,879 		JBrowse link
G HCG17 HLA complex group 17 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,234,039...30,326,134
Ensembl chr 6:30,234,039...30,326,134 		JBrowse link
G HCG22 HLA complex group 22 (non-protein coding) IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,053,449...31,059,849
Ensembl chr 6:31,053,311...31,065,229 		JBrowse link
G HCG26 HLA complex group 26 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,471,229...31,472,408 JBrowse link
G HCP5 HLA complex P5 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,463,180...31,465,809
Ensembl chr 6:31,463,144...31,494,470 		JBrowse link
G HEATR6 HEAT repeat containing 6 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:60,041,008...60,078,921
Ensembl chr17:60,041,008...60,078,922 		JBrowse link
G HIC2 HIC ZBTB transcriptional repressor 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:21,417,371...21,451,463
Ensembl chr22:21,417,371...21,451,463 		JBrowse link
G HIRA histone cell cycle regulator IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HLA-A major histocompatibility complex, class I, A IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-C major histocompatibility complex, class I, C IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,268,749...31,272,092
Ensembl chr 6:31,268,749...31,272,130 		JBrowse link
G HLA-E major histocompatibility complex, class I, E IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,489,509...30,494,194
Ensembl chr 6:30,489,509...30,494,194 		JBrowse link
G HLA-F major histocompatibility complex, class I, F IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,723,434...29,738,532
Ensembl chr 6:29,722,775...29,738,528 		JBrowse link
G HLA-G major histocompatibility complex, class I, G IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,826,474...29,831,021
Ensembl chr 6:29,826,967...29,831,125 		JBrowse link
G IER3 immediate early response 3 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,743,199...30,744,547
Ensembl chr 6:30,743,199...30,744,548 		JBrowse link
G INO80D INO80 complex subunit D IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:205,993,721...206,086,174
Ensembl chr 2:205,993,721...206,086,303 		JBrowse link
G INTS2 integrator complex subunit 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:61,865,367...61,927,982
Ensembl chr17:61,865,367...61,928,016 		JBrowse link
G KLHL22 kelch like family member 22 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,441,519...20,495,795
Ensembl chr22:20,441,519...20,495,844 		JBrowse link
G KLRG1 killer cell lectin like receptor G1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr12:8,950,044...9,215,570
Ensembl chr12:8,950,044...9,010,760 		JBrowse link
G KMT2C lysine methyltransferase 2C IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr18:5,954,717...6,415,259
Ensembl chr18:5,954,706...6,415,237 		JBrowse link
G LINC02875 long intergenic non-protein coding RNA 2875 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:61,411,751...61,413,280
Ensembl chr17:61,411,751...61,413,280 		JBrowse link
G LINGO2 leucine rich repeat and Ig domain containing 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:27,937,617...29,213,601
Ensembl chr 9:27,937,617...29,213,601 		JBrowse link
G LOC107325936 origin of replication at fragile site FRA3B IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 3:60,475,685...60,510,714 JBrowse link
G LOC120961747 Sharpr-MPRA regulatory region 14225 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:40,401,929...40,402,223 JBrowse link
G LOC121627986 H3K4me1 hESC enhancer GRCh37_chrX:154285543-154286044 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr  X:155,057,268...155,057,769 JBrowse link
G LOC122861288 Sharpr-MPRA regulatory region 14446 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:215,410,886...215,411,180 JBrowse link
G LOC122861289 Sharpr-MPRA regulatory region 10603 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:215,420,546...215,420,840 JBrowse link
G LOC123493226 Sharpr-MPRA regulatory region 15067 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 4:158,630,937...158,631,231 JBrowse link
G LOC126806446 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189866210-189867409 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:189,001,484...189,002,683 JBrowse link
G LOC126806496 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216240057-216241256 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:215,375,334...215,376,533 JBrowse link
G LOC126806497 BRD4-independent group 4 enhancer GRCh37_chr2:216255920-216257119 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:215,391,197...215,392,396 JBrowse link
G LOC126806498 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216288045-216289244 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:215,423,322...215,424,521 JBrowse link
G LOC126806499 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216298103-216299302 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:215,433,380...215,434,579 JBrowse link
G LOC129995974 ATAC-STARR-seq lymphoblastoid active region 24147 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:22,025,941...22,026,110 JBrowse link
G LOC129995975 ATAC-STARR-seq lymphoblastoid active region 24148 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:22,037,620...22,037,729 JBrowse link
G LOC130068895 ATAC-STARR-seq lymphoblastoid active region 30074 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr  X:155,070,764...155,071,063 JBrowse link
G LRRC18 leucine rich repeat containing 18 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:48,909,480...48,939,840
Ensembl chr10:48,909,480...48,939,840 		JBrowse link
G LST1 leukocyte specific transcript 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,586,277...31,588,909
Ensembl chr 6:31,586,124...31,588,909 		JBrowse link
G LTA lymphotoxin alpha IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324 		JBrowse link
G LTB lymphotoxin beta IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,580,558...31,582,425
Ensembl chr 6:31,580,525...31,582,522 		JBrowse link
G LY6G5B lymphocyte antigen 6 family member G5B IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,669,976...31,673,546
Ensembl chr 6:31,669,976...31,673,776 		JBrowse link
G LY6G5C lymphocyte antigen 6 family member G5C IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,676,684...31,681,067
Ensembl chr 6:31,676,684...31,684,040 		JBrowse link
G LY6G6D lymphocyte antigen 6 family member G6D IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,715,348...31,717,919
Ensembl chr 6:31,715,348...31,717,919 		JBrowse link
G LY6G6F lymphocyte antigen 6 family member G6F IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,706,866...31,710,679
Ensembl chr 6:31,706,866...31,710,679 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360 		JBrowse link
G MAS1L MAS1 proto-oncogene like, G protein-coupled receptor IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,486,697...29,487,956
Ensembl chr 6:29,486,697...29,487,956 		JBrowse link
G MCCD1 mitochondrial coiled-coil domain 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,528,962...31,530,232
Ensembl chr 6:31,528,962...31,530,232 		JBrowse link
G MDC1 mediator of DNA damage checkpoint 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,699,807...30,717,281
Ensembl chr 6:30,699,807...30,717,447 		JBrowse link
G MED13 mediator complex subunit 13 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:61,942,605...62,065,278
Ensembl chr17:61,942,605...62,065,278 		JBrowse link
G MED15 mediator complex subunit 15 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,507,610...20,587,619
Ensembl chr22:20,495,913...20,587,632 		JBrowse link
G MICA MHC class I polypeptide-related sequence A IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,400,711...31,415,315
Ensembl chr 6:31,399,784...31,415,315 		JBrowse link
G MICB MHC class I polypeptide-related sequence B IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,494,918...31,511,124
Ensembl chr 6:31,494,881...31,511,124 		JBrowse link
G MIR3606 microRNA 3606 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:188,995,630...188,995,692
Ensembl chr 2:188,995,630...188,995,692 		JBrowse link
G MIR877 microRNA 877 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,584,332...30,584,417
Ensembl chr 6:30,584,332...30,584,417 		JBrowse link
G MMD2 monocyte to macrophage differentiation associated 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:4,892,245...4,959,187
Ensembl chr 7:4,905,989...4,959,212 		JBrowse link
G MOG myelin oligodendrocyte glycoprotein IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,657,092...29,672,365
Ensembl chr 6:29,657,002...29,672,372 		JBrowse link
G MORC1 MORC family CW-type zinc finger 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 3:108,958,248...109,118,134
Ensembl chr 3:108,958,248...109,118,134 		JBrowse link
G MORC1-AS1 MORC1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 3:109,101,456...109,110,340
Ensembl chr 3:109,101,401...109,110,342 		JBrowse link
G MRPL40 mitochondrial ribosomal protein L40 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,432,545...19,436,075
Ensembl chr22:19,432,545...19,436,075 		JBrowse link
G MRPS18B mitochondrial ribosomal protein S18B IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,617,840...30,626,392
Ensembl chr 6:30,617,840...30,626,395 		JBrowse link
G MSMB microseminoprotein beta IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:46,033,313...46,046,269
Ensembl chr10:46,033,307...46,048,180 		JBrowse link
G MTCP1 mature T cell proliferation 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr  X:155,064,034...155,071,136
Ensembl chr  X:155,064,034...155,147,937 		JBrowse link
G MTX2 metaxin 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025 		JBrowse link
G MUC21 mucin 21, cell surface associated IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,983,718...30,989,903
Ensembl chr 6:30,983,718...30,989,903 		JBrowse link
G MUC22 mucin 22 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,005,952...31,035,402
Ensembl chr 6:31,010,474...31,035,402 		JBrowse link
G MUCL3 mucin like 3 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,940,973...30,954,221
Ensembl chr 6:30,934,523...30,954,221 		JBrowse link
G NACA2 nascent polypeptide associated complex subunit alpha 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:61,590,421...61,591,219
Ensembl chr17:61,590,421...61,591,219 		JBrowse link
G NCOA4 nuclear receptor coactivator 4 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:46,005,088...46,030,623
Ensembl chr10:46,005,088...46,030,623 		JBrowse link
G NCR3 natural cytotoxicity triggering receptor 3 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,588,895...31,593,006
Ensembl chr 6:31,588,895...31,593,006 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509 		JBrowse link
G NFKBIL1 NFKB inhibitor like 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,546,851...31,558,829
Ensembl chr 6:31,546,870...31,558,829 		JBrowse link
G NKAPL NFKB activating protein like IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,259,297...28,260,958
Ensembl chr 6:28,259,297...28,260,958 		JBrowse link
G NOL10 nucleolar protein 10 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:10,570,754...10,689,975
Ensembl chr 2:10,562,347...10,689,987 		JBrowse link
G NRM nurim IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,688,049...30,691,420
Ensembl chr 6:30,688,047...30,691,420 		JBrowse link
G OGDHL oxoglutarate dehydrogenase L IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:49,734,641...49,762,379
Ensembl chr10:49,734,641...49,762,379 		JBrowse link
G OR10C1 olfactory receptor family 10 subfamily C member 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,439,306...29,440,977
Ensembl chr 6:29,439,306...29,440,977 		JBrowse link
G OR11A1 olfactory receptor family 11 subfamily A member 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,425,504...29,457,071
Ensembl chr 6:29,425,504...29,457,071 		JBrowse link
G OR12D2 olfactory receptor family 12 subfamily D member 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,395,631...29,398,008
Ensembl chr 6:29,395,631...29,398,008 		JBrowse link
G OR12D3 olfactory receptor family 12 subfamily D member 3 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,373,423...29,375,291
Ensembl chr 6:29,373,423...29,375,291 		JBrowse link
G OR14J1 olfactory receptor family 14 subfamily J member 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,301,701...29,313,017
Ensembl chr 6:29,301,701...29,313,017 		JBrowse link
G OR2B3 olfactory receptor family 2 subfamily B member 3 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,086,208...29,087,313
Ensembl chr 6:29,086,208...29,087,313 		JBrowse link
G OR2H1 olfactory receptor family 2 subfamily H member 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,457,155...29,464,328
Ensembl chr 6:29,457,155...29,464,328 		JBrowse link
G OR2H2 olfactory receptor family 2 subfamily H member 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,585,121...29,590,500
Ensembl chr 6:29,585,121...29,590,500 		JBrowse link
G OR2J2 olfactory receptor family 2 subfamily J member 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,170,907...29,175,811
Ensembl chr 6:29,170,907...29,175,811 		JBrowse link
G OR2J3 olfactory receptor family 2 subfamily J member 3 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,108,058...29,114,770
Ensembl chr 6:29,108,058...29,114,770 		JBrowse link
G OR2W1 olfactory receptor family 2 subfamily W member 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,044,213...29,045,175
Ensembl chr 6:29,044,213...29,045,175 		JBrowse link
G OR5V1 olfactory receptor family 5 subfamily V member 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,353,749...29,368,865
Ensembl chr 6:29,353,749...29,431,967 		JBrowse link
G OTOGL otogelin like IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr12:80,099,537...80,380,880
Ensembl chr12:80,099,537...80,380,880 		JBrowse link
G P2RX6 purinergic receptor P2X 6 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:21,009,799...21,028,008
Ensembl chr22:21,009,808...21,028,013 		JBrowse link
G PARG poly(ADP-ribose) glycohydrolase IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:49,818,279...49,942,027
Ensembl chr10:49,818,279...49,970,203 		JBrowse link
G PCNT pericentrin IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PGBD1 piggyBac transposable element derived 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,281,572...28,302,549
Ensembl chr 6:28,281,572...28,302,549 		JBrowse link
G PGBD3 piggyBac transposable element derived 3 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:49,515,105...49,524,281
Ensembl chr10:49,454,470...49,539,538 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G POLR1H RNA polymerase I subunit H IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,060,062...30,064,907
Ensembl chr 6:30,058,899...30,064,909 		JBrowse link
G POU5F1 POU class 5 homeobox 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,164,337...31,170,682
Ensembl chr 6:31,164,337...31,180,731 		JBrowse link
G PPID peptidylprolyl isomerase D IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 4:158,709,127...158,723,396
Ensembl chr 4:158,709,127...158,723,396 		JBrowse link
G PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:60,600,193...60,666,280
Ensembl chr17:60,600,193...60,666,280 		JBrowse link
G PPP1R10 protein phosphatase 1 regulatory subunit 10 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,600,413...30,617,243
Ensembl chr 6:30,600,413...30,618,612 		JBrowse link
G PPP1R11 protein phosphatase 1 regulatory inhibitor subunit 11 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,061,265...30,070,333
Ensembl chr 6:30,066,709...30,070,333 		JBrowse link
G PPP1R18 protein phosphatase 1 regulatory subunit 18 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,676,389...30,688,391
Ensembl chr 6:30,676,389...30,687,895 		JBrowse link
G PRODH proline dehydrogenase 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:18,912,781...18,936,553
Ensembl chr22:18,912,777...18,936,553 		JBrowse link
G PRR3 proline rich 3 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,556,709...30,563,723
Ensembl chr 6:30,557,280...30,563,723 		JBrowse link
G PRRC2A proline rich coiled-coil 2A IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,620,715...31,637,771
Ensembl chr 6:31,620,715...31,637,771 		JBrowse link
G PSORS1C1 psoriasis susceptibility 1 candidate 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,114,800...31,140,092
Ensembl chr 6:31,114,750...31,140,092 		JBrowse link
G PSORS1C2 psoriasis susceptibility 1 candidate 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,137,534...31,139,066
Ensembl chr 6:31,137,534...31,139,066 		JBrowse link
G RADIL Rap associating with DIL domain IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:4,797,055...4,883,716
Ensembl chr 7:4,797,055...4,883,716 		JBrowse link
G RANBP1 RAN binding protein 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,116,104...20,127,355
Ensembl chr22:20,115,938...20,127,355 		JBrowse link
G RBAK RB associated KRAB zinc finger IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:5,045,860...5,069,487
Ensembl chr 7:5,045,821...5,069,487 		JBrowse link
G RBAK-RBAKDN RBAK-RBAKDN readthrough IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:5,045,860...5,073,221
Ensembl chr 7:4,983,718...5,073,221 		JBrowse link
G RHCE Rh blood group CcEe antigens IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 1:25,362,249...25,430,203
Ensembl chr 1:25,362,249...25,430,192 		JBrowse link
G RIMBP3 RIMS binding protein 3 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:18,605,815...18,611,919
Ensembl chr22:18,605,815...18,611,919 		JBrowse link
G RNF39 ring finger protein 39 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,070,270...30,075,769
Ensembl chr 6:30,070,266...30,075,849 		JBrowse link
G RPP21 ribonuclease P/MRP subunit p21 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,345,156...30,346,857
Ensembl chr 6:30,345,131...30,346,884 		JBrowse link
G RTL10 retrotransposon Gag like 10 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,846,146...19,854,874
Ensembl chr22:19,846,138...19,854,896 		JBrowse link
G RTN4R reticulon 4 receptor IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,241,415...20,268,318
Ensembl chr22:20,241,415...20,283,246 		JBrowse link
G RXFP1 relaxin family peptide receptor 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 4:158,521,714...158,653,372
Ensembl chr 4:158,315,311...158,653,372 		JBrowse link
G SCAND3 SCAN domain containing 3 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,570,535...28,616,202
Ensembl chr 6:28,570,535...28,616,212 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SDK1 sidekick cell adhesion molecule 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:3,301,252...4,269,000
Ensembl chr 7:3,301,252...4,269,000 		JBrowse link
G SEPTIN5 septin 5 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,714,503...19,723,319
Ensembl chr22:19,714,503...19,724,224 		JBrowse link
G SERPIND1 serpin family D member 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,774,113...20,787,720
Ensembl chr22:20,774,113...20,787,720 		JBrowse link
G SFTA2 surfactant associated 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,931,353...30,932,170
Ensembl chr 6:30,931,353...30,955,636 		JBrowse link
G SGMS1 sphingomyelin synthase 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:50,305,600...50,625,184
Ensembl chr10:50,305,586...50,625,163 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G SLC25A13 solute carrier family 25 member 13 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147 		JBrowse link
G SLC29A4 solute carrier family 29 member 4 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:5,282,943...5,306,912
Ensembl chr 7:5,274,369...5,306,912 		JBrowse link
G SLC6A6 solute carrier family 6 member 6 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 3:14,402,576...14,489,349
Ensembl chr 3:14,402,576...14,489,349 		JBrowse link
G SLC7A4 solute carrier family 7 member 4 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:21,028,718...21,032,561
Ensembl chr22:21,028,718...21,032,840 		JBrowse link
G SLC8A1 solute carrier family 8 member A1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053 		JBrowse link
G SNAP29 synaptosome associated protein 29 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214 		JBrowse link
G SWT1 SWT1 RNA endoribonuclease homolog IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 1:185,157,060...185,291,781
Ensembl chr 1:185,157,080...185,291,781 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TBX2 T-box transcription factor 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G TCF19 transcription factor 19 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,158,589...31,164,215
Ensembl chr 6:31,158,331...31,167,159 		JBrowse link
G THAP7 THAP domain containing 7 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,999,104...21,002,118
Ensembl chr22:20,999,104...21,002,196 		JBrowse link
G TIMM23 translocase of inner mitochondrial membrane 23 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:45,972,489...46,003,742
Ensembl chr10:45,972,489...46,003,742 		JBrowse link
G TMEM132C transmembrane protein 132C IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr12:128,267,170...128,707,911
Ensembl chr12:128,267,170...128,707,911 		JBrowse link
G TMEM191B transmembrane protein 191B IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:18,527,802...18,530,573
Ensembl chr22:18,527,802...18,530,573 		JBrowse link
G TMEM273 transmembrane protein 273 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:49,154,736...49,188,391
Ensembl chr10:49,154,725...49,188,585 		JBrowse link
G TMX3 thioredoxin related transmembrane protein 3 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr18:68,673,688...68,715,108
Ensembl chr18:68,673,688...68,715,108 		JBrowse link
G TNF tumor necrosis factor IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNRC18 trinucleotide repeat containing 18 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:5,306,811...5,423,834
Ensembl chr 7:5,306,790...5,425,414 		JBrowse link
G TRA-TGC7-1 tRNA-Ala (anticodon TGC) 7-1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,802,800...28,802,870 JBrowse link
G TRAT1 T cell receptor associated transmembrane adaptor 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 3:108,822,786...108,855,005
Ensembl chr 3:108,822,770...108,855,005 		JBrowse link
G TRIM10 tripartite motif containing 10 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,151,943...30,164,009
Ensembl chr 6:30,151,943...30,161,211 		JBrowse link
G TRIM15 tripartite motif containing 15 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,163,546...30,172,693
Ensembl chr 6:30,163,206...30,172,693 		JBrowse link
G TRIM26 tripartite motif containing 26 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,184,455...30,213,406
Ensembl chr 6:30,184,455...30,213,427 		JBrowse link
G TRIM27 tripartite motif containing 27 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,903,002...28,923,985
Ensembl chr 6:28,903,002...28,923,988 		JBrowse link
G TRIM31 tripartite motif containing 31 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,102,897...30,113,090
Ensembl chr 6:30,102,897...30,113,090 		JBrowse link
G TRIM39 tripartite motif containing 39 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,326,469...30,343,729
Ensembl chr 6:30,326,479...30,343,729 		JBrowse link
G TRIM39-RPP21 TRIM39-RPP21 readthrough IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,329,311...30,346,858
Ensembl chr 6:30,328,907...30,346,854 		JBrowse link
G TRIM40 tripartite motif containing 40 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,136,140...30,148,735
Ensembl chr 6:30,136,124...30,148,735 		JBrowse link
G TRMT1L tRNA methyltransferase 1 like IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 1:185,118,101...185,157,537
Ensembl chr 1:185,118,101...185,157,072 		JBrowse link
G TRMT2A tRNA methyltransferase 2 homolog A IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,111,875...20,117,226
Ensembl chr22:20,111,875...20,117,392 		JBrowse link
G TSSK2 testis specific serine kinase 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,131,308...19,132,622
Ensembl chr22:19,131,308...19,132,622 		JBrowse link
G TUBB tubulin beta class I IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820 		JBrowse link
G UBD ubiquitin D IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,555,515...29,559,732
Ensembl chr 6:29,555,515...29,559,732 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G USP32 ubiquitin specific peptidase 32 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:60,177,327...60,422,416
Ensembl chr17:60,177,327...60,422,470 		JBrowse link
G USP41P ubiquitin specific peptidase 41, pseudogene IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,363,616...20,377,260
Ensembl chr22:20,363,621...20,377,251 		JBrowse link
G VARS2 valyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:30,914,238...30,926,459
Ensembl chr 6:30,914,205...30,926,459 		JBrowse link
G VSTM4 V-set and transmembrane domain containing 4 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:49,014,236...49,115,522
Ensembl chr10:49,014,236...49,115,522 		JBrowse link
G WASHC2A WASH complex subunit 2A IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:50,067,954...50,133,509
Ensembl chr10:50,067,888...50,133,509 		JBrowse link
G WDFY4 WDFY family member 4 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:48,684,873...48,982,956
Ensembl chr10:48,684,873...48,982,956 		JBrowse link
G WIPI2 WD repeat domain, phosphoinositide interacting 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:5,190,233...5,233,855
Ensembl chr 7:5,190,196...5,233,840 		JBrowse link
G ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,131,804...20,148,007
Ensembl chr22:20,129,456...20,148,007 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:25741868 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZFP57 ZFP57 zinc finger protein IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:29,672,392...29,681,152
Ensembl chr 6:29,672,483...29,681,155 		JBrowse link
G ZKSCAN3 zinc finger with KRAB and SCAN domains 3 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,349,878...28,369,172
Ensembl chr 6:28,349,947...28,369,172 		JBrowse link
G ZKSCAN4 zinc finger with KRAB and SCAN domains 4 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,241,697...28,259,211
Ensembl chr 6:28,241,697...28,252,269 		JBrowse link
G ZKSCAN8 zinc finger with KRAB and SCAN domains 8 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,141,635...28,159,460
Ensembl chr 6:28,141,883...28,159,460 		JBrowse link
G ZNF165 zinc finger protein 165 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,080,282...28,089,563
Ensembl chr 6:28,080,568...28,089,563 		JBrowse link
G ZNF311 zinc finger protein 311 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,994,788...29,005,612
Ensembl chr 6:28,994,785...29,005,316 		JBrowse link
G ZNF74 zinc finger protein 74 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:20,394,151...20,408,455
Ensembl chr22:20,394,115...20,408,461 		JBrowse link
G ZSCAN12 zinc finger and SCAN domain containing 12 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,378,821...28,399,747
Ensembl chr 6:28,378,821...28,399,747 		JBrowse link
G ZSCAN16 zinc finger and SCAN domain containing 16 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,124,609...28,130,082
Ensembl chr 6:28,107,689...28,130,082 		JBrowse link
G ZSCAN23 zinc finger and SCAN domain containing 23 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,421,400...28,443,491
Ensembl chr 6:28,431,930...28,443,502 		JBrowse link
G ZSCAN26 zinc finger and SCAN domain containing 26 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,267,143...28,278,204
Ensembl chr 6:28,267,058...28,278,224 		JBrowse link
G ZSCAN31 zinc finger and SCAN domain containing 31 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,324,737...28,356,271
Ensembl chr 6:28,324,693...28,356,271 		JBrowse link
G ZSCAN9 zinc finger and SCAN domain containing 9 IAGP ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:28,225,240...28,233,487
Ensembl chr 6:28,224,886...28,233,487 		JBrowse link
Megarectum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INSR insulin receptor IAGP HPO ORPHA:508 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP HPO PMID:33523931 MIM:301056 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
Microcolon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG2 actin gamma 2, smooth muscle IAGP HPO PMID:24337657 MIM:155310 MIM:619431 ORPHA:2241 NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865 		JBrowse link
G AP1S1 adaptor related protein complex 1 subunit sigma 1 IAGP HPO PMID:19057675 MIM:609313 NCBI chr 7:101,154,476...101,161,276
Ensembl chr 7:101,154,456...101,161,596 		JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO MIM:600001 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GUCY2C guanylate cyclase 2C IAGP HPO MIM:614665 NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:1662 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMOD1 leiomodin 1 IAGP HPO PMID:28292896 MIM:619362 ORPHA:2241 NCBI chr 1:201,896,456...201,946,548
Ensembl chr 1:201,896,456...201,946,548 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO PMID:25407000 PMID:29575632 MIM:619351 ORPHA:2241 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYLK myosin light chain kinase IAGP HPO ORPHA:2241 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:163746 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:1662 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Necrotizing enterocolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADVL acyl-CoA dehydrogenase very long chain IAGP HPO PMID:4022672 MIM:201475 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266 		JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor IAGP HPO PMID:31308374 MIM:619573 NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771 		JBrowse link
G FCN3 ficolin 3 IAGP HPO PMID:20971976 MIM:613860 NCBI chr 1:27,369,110...27,374,824
Ensembl chr 1:27,369,110...27,374,824 		JBrowse link
G FH fumarate hydratase IAGP HPO PMID:22069215 MIM:606812 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO PMID:31389005 MIM:619350 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO PMID:26293662 MIM:616809 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
Neoplasm of the colon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Neoplasm of the colon ClinVar PMID:7959691 PMID:17963004 PMID:20223039 PMID:20685668 PMID:25525159 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Neoplasm of the colon ClinVar
HPO		 PMID:23807571 PMID:25614872 PMID:25741868 PMID:28492532 PMID:30482293 More... ORPHA:440437 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:440437 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:440437 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Neoplasm of the colon ClinVar PMID:23807571 PMID:25614872 PMID:25741868 PMID:28492532 PMID:30482293 More... NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Neoplasm of the colon HPO
ClinVar		 PMID:16794575 PMID:21244692 PMID:22419737 PMID:25085752 PMID:25741868 More... ORPHA:440437 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP ClinVar Annotator: match by term: Colon tumor ClinVar NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP ClinVar Annotator: match by term: Neoplasm of the colon ClinVar NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:44890 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G MLH1 mutL homolog 1 IAGP ClinVar Annotator: match by term: Colon tumor
ClinVar Annotator: match by term: Neoplasm of the colon 		ClinVar PMID:7728749 PMID:8574961 PMID:8797773 PMID:9490293 PMID:11524701 More... NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease IAGP ClinVar Annotator: match by term: Neoplasm of the colon ClinVar PMID:23080121 PMID:23912341 PMID:25452441 PMID:25741868 PMID:26556299 More... NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP ClinVar Annotator: match by term: Colon tumor ClinVar
HPO		 PMID:16890597 PMID:19394335 PMID:19732775 PMID:20618354 PMID:20628285 More... ORPHA:440437 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO ORPHA:44890 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:440437 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:44890 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:44890 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:44890 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SEMA4A semaphorin 4A IAGP HPO ORPHA:440437 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO ORPHA:2869 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Colonic neoplasm ClinVar PMID:12826609 PMID:20978130 PMID:24549055 PMID:25741868 PMID:28492532 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
Neoplasm of the large intestine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT2 AKT serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536 		JBrowse link
G AMER1 APC membrane recruitment protein 1 onset IAGP DNA:SNPs:multiple
DNA:mutations: 		RGD PMID:26071483 PMID:31243121 RGD:11527838, RGD:151665183 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G B2M beta-2-microglobulin IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G BORCS5 BLOC-1 related complex subunit 5 susceptibility IAGP DNA:SNP:3'utr: (rs3803098) A>G (human) RGD PMID:27354594 RGD:152177496 NCBI chr12:12,357,078...12,471,233
Ensembl chr12:12,357,078...12,471,233 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Large intestine tumor
ClinVar Annotator: match by term: Neoplasm of the large intestine 		ClinVar PMID:19363522 PMID:19794125 PMID:21190184 PMID:21343559 PMID:21716161 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CCDC17 coiled-coil domain containing 17 susceptibility IAGP DNA:SNP:3'utr: (rs2275085) T>C (human) RGD PMID:27354594 RGD:152177496 NCBI chr 1:45,620,044...45,624,054
Ensembl chr 1:45,620,044...45,624,057 		JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 susceptibility
treatment
severity 		IAGP DNA:SNP:intron: (rs4809960)
DNA:SNP:CDS: (rs2296241)
DNA:SNP:enhancer: (rs6013897)
DNA:missense mutation:CDS: (rs6022990)
DNA:SNP:intron: (rs2765934)
DNA:SNPs:enhancers: (rs6013897, rs158552, rs17217119) 		RGD PMID:31802707 PMID:27978548 PMID:33504116 PMID:24562971 PMID:28821819 More... RGD:151665172, RGD:152025254, RGD:151708714, RGD:151665501, RGD:151665339, RGD:151665179 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G CYP4F8 cytochrome P450 family 4 subfamily F member 8 susceptibility IAGP DNA:SNP:3'utr: (rs2283606) T>C (human) RGD PMID:27354594 RGD:152177496 NCBI chr19:15,615,218...15,630,639
Ensembl chr19:15,615,218...15,630,639 		JBrowse link
G DOK3 docking protein 3 susceptibility IAGP DNA:SNP:3'utr: (rs2279398) (human) RGD PMID:27354594 RGD:152177496 NCBI chr 5:177,501,904...177,511,100
Ensembl chr 5:177,501,904...177,511,274 		JBrowse link
G EPHB2 EPH receptor B2 IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar 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 ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit sexual_dimorphism IAGP DNA:SNP:3'utr: (rs3212986) (human) RGD PMID:29516665 RGD:153344543 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G FAM151A family with sequence similarity 151 member A susceptibility IAGP DNA:SNP:3'utr: (rs11206394) G>C (human) RGD PMID:27354594 RGD:152177496 NCBI chr 1:54,609,181...54,623,525
Ensembl chr 1:54,609,181...54,623,556 		JBrowse link
G FAT1 FAT atypical cadherin 1 sexual_dimorphism IAGP left-sided colorectal cancer;DNA:mutations:multiple (human) RGD PMID:33106877 RGD:150539450 NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092 		JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 IAGP DNA:polymorphisms:multiple RGD PMID:33075166 RGD:149735513 NCBI chr13:28,003,274...28,100,576
Ensembl chr13:28,003,274...28,100,592 		JBrowse link
G GJB3 gap junction protein beta 3 susceptibility IAGP DNA:SNP:3'utr: (rs9118) C>G (human) RGD PMID:27354594 RGD:152177496 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GPX1 glutathione peroxidase 1 susceptibility IAGP DNA:missense mutation:CDS:p.P198L (human) RGD PMID:19428376 RGD:152023636 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G IL16 interleukin 16 susceptibility IAGP DNA:SNP:3'utr: (rs1131445) T>C (human) RGD PMID:27354594 RGD:152177496 NCBI chr15:81,182,712...81,314,058
Ensembl chr15:81,159,575...81,314,058 		JBrowse link
G ITPKC inositol-trisphosphate 3-kinase C susceptibility IAGP DNA:SNP:intron: (rs2607420) (human) RGD PMID:33470690 RGD:152995405 NCBI chr19:40,717,112...40,740,860
Ensembl chr19:40,717,112...40,740,860 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr 3:41,224,408...41,225,607 JBrowse link
G LRP1B LDL receptor related protein 1B exacerbates IAGP DNA:mutations, haplotype:multiple
DNA:mutations, hpalotype:multiple 		RGD PMID:33836681 PMID:31693169 RGD:150429788, RGD:150429790 NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ameliorates IAGP DNA:SNPs:promoter: -1304G>G, -1304T>G (rs3826392) (human) RGD PMID:19610067 RGD:150429744 NCBI chr17:12,020,877...12,143,828
Ensembl chr17:12,020,829...12,143,830 		JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member disease_progression IAGP DNA:SNP:promoter: (rs9803935) (human) RGD PMID:32619164 RGD:151356738 NCBI chr 1:150,574,558...150,579,610
Ensembl chr 1:150,560,895...150,579,738 		JBrowse link
G MLH3 mutL homolog 3 sexual_dimorphism IAGP DNA:SNP:3'utr: (rs108621) RGD PMID:29516665 RGD:153344543 NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility IAGP DNA:SNP:3'utr: (rs3135499) C>A (human) RGD PMID:27354594 RGD:152177496 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G PCSK4 proprotein convertase subtilisin/kexin type 4 susceptibility IAGP DNA:SNP:3'utr: (rs1047854) C>T (human) RGD PMID:27354594 RGD:152177496 NCBI chr19:1,481,428...1,490,876
Ensembl chr19:1,481,428...1,490,752 		JBrowse link
G PELI1 pellino E3 ubiquitin protein ligase 1 susceptibility IAGP DNA:SNP:exon: (rs329497) (human) RGD PMID:33470690 RGD:152995405 NCBI chr 2:64,092,652...64,144,420
Ensembl chr 2:64,092,652...64,144,420 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP DNA:nonsense mutation, missense mutation:CDS:p.195*, p.V759I RGD PMID:30086056 RGD:151347647 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518 		JBrowse link
G RAB24 RAB24, member RAS oncogene family susceptibility IAGP DNA:SNP:3'utr: (rs1128287) C>A (human) RGD PMID:27354594 RGD:152177496 NCBI chr 5:177,301,198...177,303,719
Ensembl chr 5:177,301,198...177,303,744 		JBrowse link
G RAD52 RAD52 homolog, DNA repair protein onset
susceptibility 		IAGP DNA:SNP,haplotypes:3'utr: (rs1051669) (human)
DNA:SNPs:3'utr: (rs7963551, rs11226) (human) 		RGD PMID:29245274 PMID:26735576 RGD:151361161, RGD:151361212 NCBI chr12:911,736...991,122
Ensembl chr12:911,736...990,053 		JBrowse link
G RGS5 regulator of G protein signaling 5 susceptibility IAGP DNA:SNP:3'utr: (rs15049) C>A (human) RGD PMID:27354594 RGD:152177496 NCBI chr 1:163,142,299...163,321,735
Ensembl chr 1:163,111,121...163,321,791 		JBrowse link
G RHOA ras homolog family member A IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998 		JBrowse link
G RNF43 ring finger protein 43 IAGP HPO ORPHA:157798 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595 		JBrowse link
G RSPH1 radial spoke head component 1 susceptibility IAGP DNA:SNP:3'utr: (rs2839531) T>C (human) RGD PMID:27354594 RGD:152177496 NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246 		JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G STIM1 stromal interaction molecule 1 susceptibility IAGP DNA:SNPs:intron, 3'utr: (rs3794050,rs7934581,rs3750996) (human) RGD PMID:33470690 RGD:152995405 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 severity IAGP DNA:SNP:3'utr: (rs6920220) (human) RGD PMID:22843550 RGD:151347611 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TPRX1 tetrapeptide repeat homeobox 1 susceptibility IAGP DNA:SNP:3'utr: (rs12462695) C>A (human) RGD PMID:27354594 RGD:152177496 NCBI chr19:47,801,232...47,819,051
Ensembl chr19:47,801,232...47,819,051 		JBrowse link
G TPST1 tyrosylprotein sulfotransferase 1 susceptibility IAGP DNA:SNP:3'utr: (rs3757417) G>T (human) RGD PMID:27354594 RGD:152177496 NCBI chr 7:66,198,790...66,360,443
Ensembl chr 7:66,205,317...66,420,543 		JBrowse link
G XPO1 exportin 1 IAGP ClinVar Annotator: match by term: Neoplasm of the large intestine ClinVar NCBI chr 2:61,477,849...61,538,612
Ensembl chr 2:61,476,032...61,538,741 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility
severity
treatment
disease_progression 		IAGP DNA:SNP:: p.R194W (human)
DNA:missense mutation:cds: p.R399Q (human)
DNA:missense mutation:cds: p.R399Q, c.1196G>A (human)
DNA:missense mutation:exon 10: p.R399Q (rs25487) (human)
DNA:missense mutation:exon 10: p.R399Q (human)
DNA:missense mutation:cds: p.R399Q G>A (human)
DNA:SNP:exon 10: p.R399Q G>A (human)
DNA:SNP:3'utr: (rs1799782) (human)
DNA:SNPs:exon 6, exon 10: p.R194W, p.R399Q (human)
DNA:SNP:cds: p.R399Q (human)
DNA:SNP:exon 6: C>T p.R194W (human)
DNA:SNP:exon 10: p.R399Q (human) 		RGD PMID:26434847 PMID:22580644 PMID:19908066 PMID:25227862 PMID:27686263 More... RGD:11353313, RGD:150540339, RGD:150573820, RGD:150573806, RGD:150573803, RGD:150573706, RGD:150540340, RGD:150539454, RGD:150539031, RGD:150537039, RGD:150537038, RGD:150530641 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		JBrowse link
Neoplasm of the rectum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase IAGP HPO ORPHA:440437 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G AXIN2 axin 2 IAGP HPO ORPHA:401911 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:157794 ORPHA:440437 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:440437 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 IAGP DNA:missense mutation:CDS p.D140E (rs7479004) RGD PMID:25407497 RGD:153323305 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:440437 ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 susceptibility IAGP DNA:SNP:intron: (rs6022999) RGD PMID:31740231 RGD:151665338 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO ORPHA:144 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G GPX3 glutathione peroxidase 3 susceptibility IAGP DNA:SNPs: (rs3828599, rs736775, rs8177447) (human) RGD PMID:22371331 RGD:151665750 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist IAGP HPO ORPHA:157794 NCBI chr15:32,718,004...32,745,106
Ensembl chr15:32,718,004...32,745,106 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:44890 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:144 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 susceptibility
treatment 		IAGP DNA:SNP:intron: (rs43184)
DNA:SNP:intron: (rs2548663) 		RGD PMID:23859041 PMID:23027623 RGD:150573807, RGD:13217411 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 susceptibility IAGP DNA:SNPs:introns: (rs851011, rs851006) RGD PMID:23859041 RGD:150573807 NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,752...36,122,511 		JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO ORPHA:144 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease susceptibility IAGP DNA:SNP:3'utr: (rs2155209) (human) RGD PMID:26735576 RGD:151361212 NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885 		JBrowse link
G MSH2 mutS homolog 2 IAGP HPO ORPHA:144 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH3 mutS homolog 3 IAGP HPO ORPHA:480536 NCBI chr 5:80,654,652...80,876,815
Ensembl chr 5:80,654,652...80,876,815 		JBrowse link
G MSH6 mutS homolog 6 IAGP HPO PMID:15340263 MIM:619097 ORPHA:144 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP HPO ORPHA:440437 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G NBN nibrin susceptibility IAGP DNA:SNP:3'utr: (rs14448) (human) RGD PMID:26735576 RGD:151361212 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NTHL1 nth like DNA glycosylase 1 IAGP HPO ORPHA:454840 NCBI chr16:2,039,820...2,047,834
Ensembl chr16:2,039,815...2,047,866 		JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO ORPHA:44890 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:144 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP HPO ORPHA:144 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 HPO ORPHA:144 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO ORPHA:440437 ORPHA:447877 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO ORPHA:440437 ORPHA:447877 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1359 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:440437 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:44890 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:44890 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:44890 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SEMA4A semaphorin 4A IAGP HPO ORPHA:440437 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP DNA:missense mutation:CDS: (rs2293152) RGD PMID:22121102 RGD:153323313 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP DNA:SNP:intron: (rs3024861) RGD PMID:22121102 RGD:153323313 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 IAGP DNA:SNP:intron: (rs3024979) RGD PMID:22121102 RGD:153323313 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO ORPHA:2869 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:144 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G XRCC5 X-ray repair cross complementing 5 susceptibility IAGP DNA:SNP:3'utr: (rs1051677) (human) RGD PMID:26735576 RGD:151361212 NCBI chr 2:216,109,348...216,206,293
Ensembl chr 2:216,107,464...216,206,303 		JBrowse link
Pancolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARD8 caspase recruitment domain family member 8 IAGP HPO PMID:29408806 MIM:619079 NCBI chr19:48,203,148...48,255,946
Ensembl chr19:48,180,770...48,255,946 		JBrowse link
G DCLRE1B DNA cross-link repair 1B IAGP HPO PMID:35007328 MIM:620133 NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,904,619...113,914,086 		JBrowse link
G IL10RB interleukin 10 receptor subunit beta IAGP HPO PMID:21519361 MIM:612567 NCBI chr21:33,266,367...33,310,182
Ensembl chr21:33,266,367...33,311,420 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO PMID:29483653 MIM:618213 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
Rectal abscess term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYBA cytochrome b-245 alpha chain IAGP HPO MIM:233690 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083 		JBrowse link
G CYBB cytochrome b-245 beta chain IAGP HPO MIM:306400 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461 		JBrowse link
G IGHM immunoglobulin heavy constant mu IAGP HPO PMID:8890099 MIM:601495 NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218 		JBrowse link
G ITGB2 integrin subunit beta 2 IAGP HPO MIM:116920 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO MIM:233700 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NCF2 neutrophil cytosolic factor 2 IAGP HPO MIM:233710 NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO ORPHA:436252 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G RAC2 Rac family small GTPase 2 IAGP HPO PMID:10758162 MIM:608203 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594 		JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP HPO ORPHA:436252 NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP HPO MIM:600145 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224 		JBrowse link
Rectal atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FREM2 FRAS1 related extracellular matrix 2 IAGP HPO PMID:15838507 MIM:617666 NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131 		JBrowse link
G RAD51C RAD51 paralog C IAGP HPO PMID:20400963 MIM:613390 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:2753 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP HPO PMID:15137007 MIM:243150 NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137 		JBrowse link
Rectal fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOCK2 dedicator of cytokinesis 2 IAGP HPO PMID:26083206 MIM:616433 NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382 		JBrowse link
Rectal polyposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:157794 ORPHA:329971 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G ENG endoglin IAGP HPO ORPHA:329971 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist IAGP HPO ORPHA:157794 NCBI chr15:32,718,004...32,745,106
Ensembl chr15:32,718,004...32,745,106 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP HPO ORPHA:247798 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:329971 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
Rectal prolapse term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO MIM:309800 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO MIM:174900 ORPHA:79076 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO MIM:235510 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CEACAM3 CEA cell adhesion molecule 3 IAGP HPO ORPHA:586 NCBI chr19:41,796,587...41,811,554
Ensembl chr19:41,796,587...41,811,554 		JBrowse link
G CEACAM6 CEA cell adhesion molecule 6 IAGP HPO ORPHA:586 NCBI chr19:41,755,530...41,772,211
Ensembl chr19:41,750,977...41,772,211 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO MIM:219700 ORPHA:586 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CLCA4 chloride channel accessory 4 IAGP HPO ORPHA:586 NCBI chr 1:86,547,078...86,580,754
Ensembl chr 1:86,547,078...86,580,754 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:287 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 HPO ORPHA:287 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 HPO ORPHA:287 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G DCTN4 dynactin subunit 4 IAGP HPO ORPHA:586 NCBI chr 5:150,708,440...150,759,017
Ensembl chr 5:150,706,840...150,759,095 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G DYM dymeclin IAGP HPO PMID:24300288 MIM:223800 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G EDNRA endothelin receptor type A IAGP HPO ORPHA:586 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP HPO PMID:32006683 MIM:620780 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO PMID:20089974 MIM:194050 ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO MIM:219700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit IAGP HPO ORPHA:586 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970 		JBrowse link
G GSTM3 glutathione S-transferase mu 3 IAGP HPO ORPHA:586 NCBI chr 1:109,733,937...109,741,038
Ensembl chr 1:109,733,932...109,741,038 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 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 HPO ORPHA:904 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 HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO ORPHA:586 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HMOX1 heme oxygenase 1 IAGP HPO ORPHA:586 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G INSR insulin receptor IAGP HPO PMID:24498630 MIM:246200 ORPHA:508 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP HPO ORPHA:586 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:235 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G LMNA lamin A/C IAGP HPO PMID:15317753 MIM:619793 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP HPO PMID:19836010 MIM:613177 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 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 HPO ORPHA:586 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO PMID:20089974 MIM:194050 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO PMID:31389005 MIM:619350 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO MIM:309800 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO ORPHA:235 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP HPO PMID:27718516 MIM:617157 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:79076 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO MIM:303600 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP HPO ORPHA:586 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP HPO ORPHA:586 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		JBrowse link
G SLC26A9 solute carrier family 26 member 9 IAGP HPO ORPHA:586 NCBI chr 1:205,913,052...205,943,456
Ensembl chr 1:205,913,048...205,943,460 		JBrowse link
G SLC6A14 solute carrier family 6 member 14 IAGP HPO ORPHA:586 NCBI chr  X:116,436,606...116,461,458
Ensembl chr  X:116,436,606...116,461,458 		JBrowse link
G SLC9A3 solute carrier family 9 member A3 IAGP HPO ORPHA:586 NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO MIM:174900 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO PMID:28803389 MIM:147060 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO MIM:175200 ORPHA:2869 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:586 ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO MIM:219700 ORPHA:586 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G ZFX zinc finger protein X-linked IAGP HPO PMID:38325380 MIM:301118 NCBI chr  X:24,148,982...24,216,255
Ensembl chr  X:24,149,173...24,216,255 		JBrowse link
Rectocele term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP HPO PMID:32006683 MIM:620780 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139 		JBrowse link
Rectoperineal fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK8 cyclin dependent kinase 8 IAGP HPO PMID:30905399 MIM:618748 NCBI chr13:26,254,129...26,405,238
Ensembl chr13:26,254,104...26,420,982 		JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO ORPHA:857 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO PMID:9425907 MIM:107480 ORPHA:857 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
Rectourethral fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MID1 midline 1 IAGP HPO PMID:15121778 MIM:300000 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G RNU12 RNA, U12 small nuclear IAGP HPO PMID:15924278 MIM:603116 NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393 		JBrowse link
Rectovaginal fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNQ cyclin Q IAGP HPO PMID:18297069 PMID:28225384 MIM:300707 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO PMID:28054444 MIM:617466 ORPHA:857 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G DDB1 damage specific DNA binding protein 1 IAGP HPO PMID:33743206 MIM:619426 NCBI chr11:61,299,451...61,333,105
Ensembl chr11:61,299,451...61,342,596 		JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 IAGP HPO MIM:608980 NCBI chr 9:14,737,152...14,910,995
Ensembl chr 9:14,737,152...14,910,995 		JBrowse link
G IL10RB interleukin 10 receptor subunit beta IAGP HPO PMID:19890111 MIM:612567 NCBI chr21:33,266,367...33,310,182
Ensembl chr21:33,266,367...33,311,420 		JBrowse link
G JAK3 Janus kinase 3 IAGP HPO ORPHA:35078 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO MIM:200990 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO PMID:25574826 PMID:25808063 PMID:28148925 MIM:600373 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO MIM:236700 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G MNX1 motor neuron and pancreas homeobox 1 IAGP HPO PMID:10749657 MIM:176450 NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO PMID:34415310 MIM:619708 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO ORPHA:861 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO MIM:218600 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RNU12 RNA, U12 small nuclear IAGP HPO MIM:603116 NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO PMID:9425907 MIM:107480 ORPHA:857 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO PMID:17256792 MIM:147750 ORPHA:2307 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 IAGP HPO MIM:270420 NCBI chr19:38,264,573...38,292,615
Ensembl chr19:38,244,035...38,292,615 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:2753 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO MIM:243800 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113 		JBrowse link
Rectovestibular fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:280633 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
Short-segment aganglionic megacolon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP HPO PMID:33497358 MIM:619465 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO PMID:10762540 MIM:609136 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
Total colonic aganglionosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDNF glial cell derived neurotrophic factor IAGP HPO PMID:8968758 MIM:613711 NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041 		JBrowse link
Ulcerative colitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BACH2 BTB domain and CNC homolog 2 IAGP HPO PMID:28530713 MIM:618394 NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843 		JBrowse link
G CARD11 caspase recruitment domain family member 11 IAGP HPO PMID:28628108 MIM:617638 NCBI chr 7:2,906,142...3,043,867
Ensembl chr 7:2,906,142...3,044,228 		JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO PMID:30361506 MIM:618935 NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 susceptibility IAGP DNA:SNPs:multiple RGD PMID:28811712 RGD:151665177 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G DOCK11 dedicator of cytokinesis 11 IAGP HPO PMID:36952639 PMID:37342957 MIM:301109 NCBI chr  X:118,495,815...118,686,147
Ensembl chr  X:118,495,815...118,686,163 		JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP HPO ORPHA:171 NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159 		JBrowse link
G IL37 interleukin 37 IAGP HPO PMID:33674380 MIM:619398 NCBI chr 2:112,911,165...112,918,882
Ensembl chr 2:112,911,165...112,918,882 		JBrowse link
G IL6 interleukin 6 IAGP HPO MIM:266600 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G INAVA innate immunity activator IAGP HPO PMID:21983784 MIM:618077 NCBI chr 1:200,891,531...200,915,742
Ensembl chr 1:200,891,048...200,915,742 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO MIM:617137 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MASP2 MBL associated serine protease 2 IAGP HPO PMID:12904520 MIM:613791 NCBI chr 1:11,026,523...11,047,239
Ensembl chr 1:11,022,009...11,047,239 		JBrowse link
G MST1 macrophage stimulating 1 IAGP HPO ORPHA:171 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO MIM:266600 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G PLCG2 phospholipase C gamma 2 IAGP HPO PMID:23000145 MIM:614878 NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,738,248...81,962,685 		JBrowse link
G SEMA4D semaphorin 4D IAGP HPO ORPHA:171 NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:171 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO PMID:17703096 MIM:301000 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 98856
    Phenotypic abnormality 98459
      Abnormality of the digestive system 14956
        Abnormal digestive system morphology 5509
          Abnormal gastrointestinal tract morphology 5431
            Abnormal intestine morphology 4575
              Abnormal large intestine morphology 3916
                Abnormal large intestinal mucosa morphology + 3
                Abnormal rectum morphology + 262
                Aplasia/Hypoplasia of the colon + 10
                Appendicitis 1
                Colonic atresia 4
                Colonic diverticula 449
                Colonic fibrinopurulent exudate 0
                Colonic stenosis 0
                Colonic varices 0
                Congenital pouch colon 0
                Duplicated colon 0
                Fecolith 0
                Inflammation of the large intestine + 2546
                Lymphoid nodular hyperplasia 2
                Malrotation of colon 4
                Megacolon + 455
                Neoplasm of the large intestine + 364
                Stercoral ulcer 0
paths to the root