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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Functional abnormality of the gastrointestinal tract
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Accession:HP:0012719 term browser browse the term
Definition:Abnormal functionality of the gastrointestinal tract.
Synonyms:exact_synonym: Functional abnormality of the GI tract;   GI dysfunction
 xref: UMLS:C4022755


show annotations for term's descendants           Sort by:
Functional abnormality of the gastrointestinal tract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC1 anaphase promoting complex subunit 1 IAGP ORPHA:221008 HPO NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ORPHA:1340 HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CCND1 cyclin D1 IAGP ORPHA:29073 HPO NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP ORPHA:3095 HPO NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 IAGP ORPHA:3095 HPO NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ORPHA:1340 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP ORPHA:1340 HPO NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP ORPHA:1340 HPO NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ORPHA:3095 HPO NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G NTNG1 netrin G1 IAGP ORPHA:3095 HPO NCBI chr 1:107,140,088...107,484,923
Ensembl chr 1:107,140,007...107,484,923 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ORPHA:221016 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP ORPHA:3095 HPO NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP ORPHA:2770 HPO NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP ORPHA:2770 HPO NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295 		JBrowse link
Abnormal esophagus physiology 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 ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266 		JBrowse link
G ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,336,529...7,351,477
Ensembl chr17:7,336,529...7,351,477 		JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710 		JBrowse link
G CLDN7 claudin 7 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,259,903...7,263,213
Ensembl chr17:7,259,903...7,263,983 		JBrowse link
G CTDNEP1 CTD nuclear envelope phosphatase 1 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,243,591...7,251,978
Ensembl chr17:7,243,591...7,252,491 		JBrowse link
G DVL2 dishevelled segment polarity protein 2 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,225,342...7,234,517
Ensembl chr17:7,225,342...7,234,517 		JBrowse link
G EIF5A eukaryotic translation initiation factor 5A IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463 		JBrowse link
G ELP5 elongator acetyltransferase complex subunit 5 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,251,724...7,259,940
Ensembl chr17:7,251,416...7,259,940 		JBrowse link
G FGF11 fibroblast growth factor 11 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,438,298...7,444,937
Ensembl chr17:7,438,273...7,444,937 		JBrowse link
G GABARAP GABA type A receptor-associated protein IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,240,008...7,242,449
Ensembl chr17:7,240,008...7,242,449 		JBrowse link
G GPS2 G protein pathway suppressor 2 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,312,661...7,315,360
Ensembl chr17:7,311,324...7,315,564 		JBrowse link
G KCTD11 potassium channel tetramerization domain containing 11 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,352,162...7,354,944
Ensembl chr17:7,351,889...7,354,944 		JBrowse link
G NEURL4 neuralized E3 ubiquitin protein ligase 4 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,315,628...7,329,335
Ensembl chr17:7,315,628...7,329,393 		JBrowse link
G NLGN2 neuroligin 2 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,404,653...7,419,860
Ensembl chr17:7,404,874...7,419,860 		JBrowse link
G PHF23 PHD finger protein 23 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,235,038...7,240,828
Ensembl chr17:7,235,029...7,239,722 		JBrowse link
G PLSCR3 phospholipid scramblase 3 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,389,727...7,394,525
Ensembl chr17:7,389,727...7,394,842 		JBrowse link
G POLR2A RNA polymerase II subunit A IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616 		JBrowse link
G SLC2A4 solute carrier family 2 member 4 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257 		JBrowse link
G SLC35G6 solute carrier family 35 member G6 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,481,446...7,483,496
Ensembl chr17:7,481,446...7,483,496 		JBrowse link
G SPEM1 spermatid maturation 1 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,420,324...7,421,632
Ensembl chr17:7,420,324...7,421,632 		JBrowse link
G SPEM2 SPEM family member 2 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,425,616...7,427,568
Ensembl chr17:7,425,616...7,427,568 		JBrowse link
G TMEM102 transmembrane protein 102 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,435,435...7,437,679
Ensembl chr17:7,435,435...7,437,679 		JBrowse link
G TMEM256 transmembrane protein 256 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,402,975...7,404,097
Ensembl chr17:7,402,975...7,404,097 		JBrowse link
G TMEM95 transmembrane protein 95 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,355,156...7,357,219
Ensembl chr17:7,355,123...7,357,219 		JBrowse link
G TNK1 tyrosine kinase non receptor 1 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,380,047...7,389,742
Ensembl chr17:7,380,534...7,389,774 		JBrowse link
G YBX2 Y-box binding protein 2 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,288,263...7,294,639
Ensembl chr17:7,288,263...7,294,639 		JBrowse link
G ZBTB4 zinc finger and BTB domain containing 4 IAGP ClinVar Annotator: match by term: Abnormal esophagus physiology ClinVar NCBI chr17:7,459,378...7,484,249
Ensembl chr17:7,459,366...7,484,263 		JBrowse link
Abnormal gastrointestinal transit time term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPK8 mitogen-activated protein kinase 8 IAGP associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A RGD PMID:31784499 RGD:150340677 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360 		JBrowse link
Abnormal peristalsis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLMP CXADR like membrane protein IAGP OMIM:615237 HPO NCBI chr11:123,069,872...123,195,248
Ensembl chr11:123,069,872...123,195,248 		JBrowse link
Achalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin IAGP OMIM:231550 ORPHA:869 HPO NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864 		JBrowse link
G ACTB actin beta IAGP OMIM:607371 ORPHA:79107 HPO NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP ORPHA:1018 HPO NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G COL4A6 collagen type IV alpha 6 chain IAGP ORPHA:1018 HPO NCBI chr  X:108,155,614...108,439,458
Ensembl chr  X:108,155,607...108,439,497 		JBrowse link
G FLVCR1 FLVCR heme transporter 1 IAGP OMIM:609033 HPO NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363 		JBrowse link
G GLA galactosidase alpha IAGP ORPHA:324 HPO NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A IAGP OMIM:615510 ORPHA:869 HPO NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898 		JBrowse link
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 IAGP OMIM:615750 HPO NCBI chr 4:155,666,848...155,737,059
Ensembl chr 4:155,666,726...155,737,059 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP ORPHA:436174 HPO NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G IVNS1ABP influenza virus NS1A binding protein IAGP OMIM:618969 HPO NCBI chr 1:185,296,388...185,317,243
Ensembl chr 1:185,296,388...185,317,273 		JBrowse link
G MEIS2 Meis homeobox 2 IAGP OMIM:600987 HPO NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299 		JBrowse link
G MYO1H myosin IH IAGP OMIM:619482 HPO NCBI chr12:109,310,468...109,448,379
Ensembl chr12:109,347,900...109,455,523 		JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP OMIM:617053 HPO NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP OMIM:615952 HPO NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP OMIM:615356 ORPHA:869 HPO NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594 		JBrowse link
Achlorhydria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCOLN1 mucolipin TRP cation channel 1 IAGP OMIM:252650 HPO NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009 		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 BCL10 BCL10 immune signaling adaptor IAGP OMIM:616098 HPO 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 OMIM:618131 HPO NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569 		JBrowse link
G CASP10 caspase 10 IAGP ORPHA:3261 HPO 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 OMIM:209920
ClinVar Annotator: match by term: Colitis		 HPO
ClinVar		 PMID:25741868 PMID:28492532 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 OMIM:301074 HPO 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 ORPHA:3261 HPO NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP ORPHA:3261 HPO 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 OMIM:619164 HPO 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 ORPHA:2908 HPO 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 ORPHA:37042 HPO 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 OMIM:615947 HPO 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 OMIM:203300 HPO NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,410,939...98,446,963 		JBrowse link
G IVNS1ABP influenza virus NS1A binding protein IAGP OMIM:618969 HPO NCBI chr 1:185,296,388...185,317,243
Ensembl chr 1:185,296,388...185,317,273 		JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP OMIM:614700 HPO NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 IAGP OMIM:613960 HPO 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 OMIM:619281 HPO NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP OMIM:301220 HPO NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986 		JBrowse link
G PRF1 perforin 1 IAGP ORPHA:540 HPO NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G PRKCD protein kinase C delta IAGP ORPHA:3261 HPO NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP OMIM:604416 HPO NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP ORPHA:3261 HPO NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575 		JBrowse link
G RFX5 regulatory factor X5 IAGP OMIM:209920 HPO NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326 		JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP OMIM:209920 HPO NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869 		JBrowse link
G RFXAP regulatory factor X associated protein IAGP OMIM:209920 HPO NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP OMIM:615190 HPO NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G SKIC2 SKI2 subunit of superkiller complex IAGP OMIM:614602 ORPHA:84064 HPO NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818 		JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP ORPHA:84064 HPO NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050 		JBrowse link
G STX11 syntaxin 11 IAGP ORPHA:540 HPO 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 ORPHA:540 HPO 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
OMIM:619381		 ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:33782605 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 OMIM:616744 HPO 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 ORPHA:540 HPO 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 OMIM:300635 HPO 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 OMIM:617006 ORPHA:911 HPO NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,739,862 		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 OMIM:617718 HPO NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816 		JBrowse link
G JAK1 Janus kinase 1 IAGP OMIM:618999 HPO NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754 		JBrowse link
Crohn's disease 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 OMIM:618394 HPO NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843 		JBrowse link
G CARD10 caspase recruitment domain family member 10 IAGP OMIM:619632 HPO NCBI chr22:37,490,362...37,519,415
Ensembl chr22:37,490,362...37,519,542 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP OMIM:616100 HPO NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP OMIM:618935 HPO NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829 		JBrowse link
G FMNL2 formin like 2 IAGP ClinVar Annotator: match by term: Crohn's disease ClinVar NCBI chr 2:152,335,174...152,649,826
Ensembl chr 2:152,335,174...152,649,826 		JBrowse link
G FNIP1 folliculin interacting protein 1 IAGP OMIM:619705 HPO NCBI chr 5:131,641,714...131,797,017
Ensembl chr 5:131,641,714...131,797,017 		JBrowse link
G GUCY2C guanylate cyclase 2C IAGP OMIM:614616 HPO NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha IAGP OMIM:613148 HPO NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037 		JBrowse link
G IL21 interleukin 21 IAGP OMIM:615767 HPO NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066 		JBrowse link
G IL6 interleukin 6 IAGP OMIM:266600 HPO 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 OMIM:618077 HPO NCBI chr 1:200,891,531...200,915,742
Ensembl chr 1:200,891,048...200,915,742 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP OMIM:249100 HPO NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP OMIM:266600
ClinVar Annotator: match by term: Crohn's disease
ClinVar Annotator: match by term: Morbus Crohn		 HPO
ClinVar		 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 PMID:11910337 More... NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP OMIM:619621 HPO NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP ORPHA:69126 HPO NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility IAGP associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human) RGD PMID:26084578 RGD:25671421 NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G SYK spleen associated tyrosine kinase IAGP OMIM:619381 HPO NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549 		JBrowse link
Decreased intestinal transit time term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO1 anoctamin 1 IAGP OMIM:620045 HPO NCBI chr11:69,965,997...70,189,530
Ensembl chr11:69,985,907...70,189,530 		JBrowse link
G CLMP CXADR like membrane protein IAGP OMIM:615237 HPO NCBI chr11:123,069,872...123,195,248
Ensembl chr11:123,069,872...123,195,248 		JBrowse link
Dysphagia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASS aminoadipate-semialdehyde synthase IAGP ORPHA:2203 HPO NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308 		JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 IAGP ORPHA:139396 HPO NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ACOX1 acyl-CoA oxidase 1 IAGP OMIM:264470 OMIM:618960 HPO NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP OMIM:161800 OMIM:255310 ORPHA:171430 ORPHA:171433 ORPHA:2020 HPO NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ACTB actin beta IAGP ORPHA:79107 HPO NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTG2 actin gamma 2, smooth muscle IAGP OMIM:155310 HPO NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP ORPHA:225154 HPO NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ADD3 adducin 3 IAGP OMIM:617008 HPO NCBI chr10:109,996,373...110,135,565
Ensembl chr10:109,996,368...110,135,565 		JBrowse link
G ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide IAGP OMIM:168600 HPO NCBI chr 4:99,336,497...99,352,746
Ensembl chr 4:99,336,497...99,352,746 		JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP OMIM:614487 ORPHA:313772 HPO NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
G AGRN agrin IAGP ORPHA:98914 HPO NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 IAGP ORPHA:79101 HPO NCBI chr 1:18,871,430...18,902,555
Ensembl chr 1:18,871,430...18,902,724 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP OMIM:205100 OMIM:606353 OMIM:607225 ORPHA:247604 ORPHA:300605 HPO NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 IAGP OMIM:615809 HPO NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP ORPHA:261250 HPO NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561 		JBrowse link
G ANXA11 annexin A11 IAGP OMIM:617839 HPO NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572 		JBrowse link
G AOPEP aminopeptidase O (putative) IAGP OMIM:619565 HPO NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,699...95,087,159 		JBrowse link
G APOE apolipoprotein E IAGP OMIM:607822 HPO NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G APP amyloid beta precursor protein IAGP ORPHA:324708 HPO NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128 		JBrowse link
G AR androgen receptor IAGP OMIM:313200 HPO NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Dysphagia ClinVar PMID:25741868 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARX aristaless related homeobox IAGP OMIM:308350 HPO NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP OMIM:159950 HPO NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ASCC1 activating signal cointegrator 1 complex subunit 1 IAGP OMIM:616867 HPO NCBI chr10:72,096,032...72,217,134
Ensembl chr10:72,096,032...72,217,134 		JBrowse link
G ATG7 autophagy related 7 IAGP OMIM:619422 HPO NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665 		JBrowse link
G ATN1 atrophin 1 IAGP OMIM:618494 HPO NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP ORPHA:306674 HPO NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP OMIM:128235 OMIM:601338 ORPHA:1171 ORPHA:71517 HPO NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP ORPHA:198 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP OMIM:277900 HPO NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G ATXN1 ataxin 1 IAGP ORPHA:98755 HPO NCBI chr 6:16,299,112...16,761,460
Ensembl chr 6:16,299,112...16,761,491 		JBrowse link
G ATXN10 ataxin 10 IAGP OMIM:603516 HPO NCBI chr22:45,671,834...45,845,307
Ensembl chr22:45,671,798...45,845,307 		JBrowse link
G ATXN2 ataxin 2 IAGP OMIM:168600 HPO NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676 		JBrowse link
G ATXN3 ataxin 3 IAGP OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 HPO NCBI chr14:92,058,552...92,106,582
Ensembl chr14:92,044,496...92,106,621 		JBrowse link
G ATXN7 ataxin 7 IAGP OMIM:164500 ORPHA:94147 HPO NCBI chr 3:63,863,144...64,003,462
Ensembl chr 3:63,863,155...64,003,462 		JBrowse link
G ATXN8 ataxin 8 IAGP OMIM:608768 ORPHA:98760 HPO
G ATXN8OS ATXN8 opposite strand lncRNA IAGP OMIM:168600 OMIM:608768 ORPHA:98760 HPO NCBI chr13:70,107,213...70,139,753
Ensembl chr13:70,107,213...70,171,738 		JBrowse link
G BAP1 BRCA1 associated protein 1 IAGP ORPHA:50251 HPO NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP OMIM:613706 HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP ORPHA:289560 HPO NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit IAGP ORPHA:275872 HPO NCBI chr 9:27,546,546...27,573,866
Ensembl chr 9:27,535,640...27,573,866 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP OMIM:183086 ORPHA:98758 HPO NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP OMIM:620029 HPO NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP OMIM:616795 ORPHA:458803 HPO NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP OMIM:618131 HPO NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569 		JBrowse link
G CARS2 cysteinyl-tRNA synthetase 2, mitochondrial IAGP ORPHA:477774 HPO NCBI chr13:110,641,410...110,713,522
Ensembl chr13:110,641,412...110,713,603 		JBrowse link
G CASZ1 castor zinc finger 1 IAGP ORPHA:1606 HPO NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650 		JBrowse link
G CAV1 caveolin 1 IAGP OMIM:606721 ORPHA:220393 ORPHA:220402 HPO NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CAVIN1 caveolae associated protein 1 IAGP OMIM:613327 HPO NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP ORPHA:220393 ORPHA:220402 HPO NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCR6 C-C motif chemokine receptor 6 IAGP ORPHA:220393 ORPHA:220402 HPO NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141 		JBrowse link
G CDC73 cell division cycle 73 IAGP ORPHA:143 ORPHA:99880 HPO NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP ORPHA:220386 ORPHA:280195 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G CEP85L centrosomal protein 85 like IAGP ORPHA:572013 HPO NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075 		JBrowse link
G CHAT choline O-acetyltransferase IAGP OMIM:254210 ORPHA:98914 HPO NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP OMIM:615911 ORPHA:275872 ORPHA:276435 HPO NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP OMIM:214800 HPO NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHMP1A charged multivesicular body protein 1A IAGP OMIM:614961 HPO NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP OMIM:608930 HPO NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP OMIM:616321 OMIM:616323 HPO NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP OMIM:605809 OMIM:608931 HPO NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438 		JBrowse link
G CLCN1 chloride voltage-gated channel 1 IAGP OMIM:255700 HPO NCBI chr 7:143,316,111...143,352,083
Ensembl chr 7:143,316,111...143,352,083 		JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin IAGP ORPHA:228346 HPO NCBI chr16:28,466,653...28,492,082
Ensembl chr16:28,474,111...28,495,575 		JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein IAGP ORPHA:1947 HPO NCBI chr 8:1,753,059...1,786,570
Ensembl chr 8:1,755,778...1,801,711 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP ORPHA:98914 HPO NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP ORPHA:1018 HPO NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G COL4A6 collagen type IV alpha 6 chain IAGP ORPHA:1018 HPO NCBI chr  X:108,155,614...108,439,458
Ensembl chr  X:108,155,607...108,439,497 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP OMIM:226600 ORPHA:79408 ORPHA:89842 HPO NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP OMIM:603034 ORPHA:98915 HPO NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase IAGP OMIM:607426 HPO NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G COQ4 coenzyme Q4 IAGP OMIM:616276 HPO NCBI chr 9:128,322,839...128,334,072
Ensembl chr 9:128,322,544...128,334,072 		JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP ORPHA:930 HPO NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741 		JBrowse link
G CRYAB crystallin alpha B IAGP ORPHA:399058 HPO NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP OMIM:221820 HPO NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CTNNB1 catenin beta 1 IAGP OMIM:615075 HPO NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP OMIM:219800 HPO NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP ORPHA:100986 HPO NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G DAB1 DAB adaptor protein 1 IAGP OMIM:615945 HPO NCBI chr 1:56,994,778...58,546,726
Ensembl chr 1:56,994,778...58,546,734 		JBrowse link
G DCX doublecortin IAGP ORPHA:2148 HPO NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
G DDHD2 DDHD domain containing 2 IAGP OMIM:615033 ORPHA:320380 HPO NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558 		JBrowse link
G DGUOK deoxyguanosine kinase IAGP OMIM:617070 ORPHA:329314 HPO NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP ORPHA:220386 ORPHA:280195 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995 		JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 IAGP ORPHA:268882 HPO NCBI chr10:52,314,281...52,317,657
Ensembl chr10:52,314,281...52,318,042 		JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP ORPHA:220386 ORPHA:280195 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565 		JBrowse link
G DMPK DM1 protein kinase IAGP ORPHA:589821 HPO NCBI chr19:45,769,709...45,782,490
Ensembl chr19:45,769,709...45,782,552 		JBrowse link
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 IAGP OMIM:603511 ORPHA:34516 HPO NCBI chr 7:157,337,004...157,417,439
Ensembl chr 7:157,335,381...157,417,439 		JBrowse link
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 IAGP ORPHA:411602 HPO NCBI chr 3:132,417,502...132,539,032
Ensembl chr 3:132,417,502...132,539,032 		JBrowse link
G DNM1L dynamin 1 like IAGP ORPHA:98673 HPO NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP OMIM:619435 HPO NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DTYMK deoxythymidylate kinase IAGP OMIM:619847 HPO NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,747...241,686,944 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP ORPHA:268261 HPO NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G DYSF dysferlin IAGP ORPHA:268 HPO NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G EBF3 EBF transcription factor 3 IAGP OMIM:617330 HPO NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053 		JBrowse link
G ECM1 extracellular matrix protein 1 IAGP ORPHA:530 HPO NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789 		JBrowse link
G EIF4G1 eukaryotic translation initiation factor 4 gamma 1 IAGP ORPHA:411602 HPO NCBI chr 3:184,314,606...184,335,358
Ensembl chr 3:184,314,495...184,335,358 		JBrowse link
G EIF5A eukaryotic translation initiation factor 5A IAGP OMIM:619376 HPO NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP OMIM:242840 HPO NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 IAGP OMIM:617951 HPO NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP ORPHA:209951 ORPHA:247604 ORPHA:280384 HPO NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G EXOSC5 exosome component 5 IAGP OMIM:619576 HPO NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP ORPHA:321 HPO NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP ORPHA:321 HPO NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP ORPHA:329308 HPO NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 IAGP OMIM:615471 HPO NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006 		JBrowse link
G FBXO28 F-box protein 28 IAGP OMIM:619777 HPO NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047 		JBrowse link
G FBXO7 F-box protein 7 IAGP ORPHA:171695 HPO NCBI chr22:32,474,811...32,498,829
Ensembl chr22:32,474,676...32,498,829 		JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP ORPHA:2908 HPO NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214 		JBrowse link
G FGF10 fibroblast growth factor 10 IAGP ORPHA:2363 HPO NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP ORPHA:220386 ORPHA:280195 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ORPHA:220386 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ORPHA:2363 HPO 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 ORPHA:2363 HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 IAGP OMIM:255100 HPO NCBI chr 1:154,983,344...154,993,111
Ensembl chr 1:154,983,338...154,993,111 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP ORPHA:93256 HPO NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G FOXH1 forkhead box H1 IAGP ORPHA:220386 ORPHA:280195 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G FRG1 FSHD region gene 1 IAGP OMIM:158900 HPO NCBI chr 4:189,940,872...189,963,192
Ensembl chr 4:189,940,870...189,963,202 		JBrowse link
G FTL ferritin light chain IAGP OMIM:606159 ORPHA:157846 HPO NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879 		JBrowse link
G FUS FUS RNA binding protein IAGP ORPHA:275872 HPO NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,191,605 		JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP ORPHA:1136 HPO NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G FXN frataxin IAGP ORPHA:95 HPO NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP ORPHA:1606 HPO NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GAS1 growth arrest specific 1 IAGP ORPHA:220386 ORPHA:280195 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP OMIM:168600 OMIM:230900 OMIM:608013 ORPHA:411602 ORPHA:77260 HPO NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP ORPHA:352641 HPO NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP ORPHA:25 HPO NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207 		JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP OMIM:233910 HPO NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G GDAP2 ganglioside induced differentiation associated protein 2 IAGP OMIM:618369 HPO NCBI chr 1:117,863,485...117,929,621
Ensembl chr 1:117,863,485...117,929,621 		JBrowse link
G GEMIN4 gem nuclear organelle associated protein 4 IAGP OMIM:617913 HPO NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999 		JBrowse link
G GFAP glial fibrillary acidic protein IAGP ORPHA:363722 HPO NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 IAGP OMIM:608931 HPO NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250 		JBrowse link
G GIGYF2 GRB10 interacting GYF protein 2 IAGP ORPHA:411602 HPO NCBI chr 2:232,697,331...232,860,605
Ensembl chr 2:232,697,299...232,860,605 		JBrowse link
G GJB1 gap junction protein beta 1 IAGP OMIM:302800 HPO NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G GLB1 galactosidase beta 1 IAGP OMIM:230600 HPO NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP ORPHA:220386 ORPHA:280195 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GLUD2 glutamate dehydrogenase 2 IAGP OMIM:168600 HPO NCBI chr  X:121,047,610...121,050,094
Ensembl chr  X:121,047,610...121,050,094 		JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A IAGP OMIM:615510 HPO NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898 		JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP OMIM:617493 HPO NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,191,390...56,357,444 		JBrowse link
G GNAQ G protein subunit alpha q IAGP ORPHA:3205 HPO NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP OMIM:616973 HPO NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP OMIM:619503 HPO NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP OMIM:252940 HPO NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G GRHL2 grainyhead like transcription factor 2 IAGP OMIM:616029 HPO NCBI chr 8:101,492,439...101,681,200
Ensembl chr 8:101,492,439...101,669,726 		JBrowse link
G GRIN2D glutamate ionotropic receptor NMDA type subunit 2D IAGP OMIM:617162 HPO NCBI chr19:48,393,668...48,444,931
Ensembl chr19:48,393,668...48,444,931 		JBrowse link
G GRM1 glutamate metabotropic receptor 1 IAGP OMIM:617691 HPO NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601 		JBrowse link
G GRM7 glutamate metabotropic receptor 7 IAGP OMIM:618922 HPO NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533 		JBrowse link
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 IAGP OMIM:615750 HPO NCBI chr 4:155,666,848...155,737,059
Ensembl chr 4:155,666,726...155,737,059 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP ORPHA:2020 HPO NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374 		JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule IAGP OMIM:613925 HPO NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		JBrowse link
G HEXB hexosaminidase subunit beta IAGP ORPHA:309169 HPO NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP OMIM:252930 HPO NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP ORPHA:36426 HPO NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP ORPHA:930 HPO NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP ORPHA:930 HPO NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ORPHA:220393 ORPHA:220402 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HOXB1 homeobox B1 IAGP OMIM:614744 HPO NCBI chr17:48,528,526...48,531,011
Ensembl chr17:48,528,526...48,531,011 		JBrowse link
G HPCA hippocalcin IAGP OMIM:224500 HPO NCBI chr 1:32,885,996...32,894,646
Ensembl chr 1:32,885,994...32,898,441 		JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like IAGP OMIM:619027 HPO NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 IAGP OMIM:300322 HPO NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 IAGP ORPHA:391428 HPO NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP ORPHA:1606 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HTRA2 HtrA serine peptidase 2 IAGP OMIM:617248 HPO NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350 		JBrowse link
G HTT huntingtin IAGP OMIM:617435 HPO NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ORPHA:163634 HPO 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 ORPHA:163634 HPO NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP ORPHA:36426 HPO NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP OMIM:619751 HPO NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G IPO8 importin 8 IAGP OMIM:619472 HPO NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G IRF2BPL interferon regulatory factor 2 binding protein like IAGP OMIM:618088 HPO NCBI chr14:77,024,543...77,028,708
Ensembl chr14:77,024,543...77,028,708 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP ORPHA:220393 ORPHA:220402 HPO NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G IRF6 interferon regulatory factor 6 IAGP ORPHA:141291 HPO NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175 		JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP ORPHA:2020 HPO NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP OMIM:619574 HPO NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP OMIM:616268 HPO NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP OMIM:606170 HPO NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KATNB1 katanin regulatory subunit B1 IAGP ORPHA:89844 HPO NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244 		JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP ORPHA:1606 HPO NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193 		JBrowse link
G KCNC3 potassium voltage-gated channel subfamily C member 3 IAGP ORPHA:98768 HPO NCBI chr19:50,311,937...50,333,536
Ensembl chr19:50,311,937...50,333,515 		JBrowse link
G KCND3 potassium voltage-gated channel subfamily D member 3 IAGP OMIM:607346 HPO NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,668 		JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 IAGP OMIM:612292 ORPHA:166108 HPO NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109 		JBrowse link
G KIAA0319L KIAA0319 like IAGP ORPHA:220402 HPO NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950 		JBrowse link
G KIF5A kinesin family member 5A IAGP OMIM:617235 HPO NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP OMIM:606764 ORPHA:44890 HPO NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G KLHL40 kelch like family member 40 IAGP OMIM:615348 ORPHA:171430 HPO NCBI chr 3:42,685,537...42,692,544
Ensembl chr 3:42,685,537...42,692,544 		JBrowse link
G KLHL41 kelch like family member 41 IAGP ORPHA:171430 ORPHA:171433 HPO NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G KLHL7 kelch like family member 7 IAGP OMIM:617055 HPO NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP ORPHA:319182 HPO NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP ORPHA:589618 HPO NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G KY kyphoscoliosis peptidase IAGP ORPHA:496689 HPO NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP ORPHA:258 HPO NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ORPHA:98915 HPO NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LBR lamin B receptor IAGP ORPHA:779 HPO NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP OMIM:601559 HPO NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LIG3 DNA ligase 3 IAGP ORPHA:298 HPO NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743 		JBrowse link
G LMNB1 lamin B1 IAGP ORPHA:99027 HPO NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G LMOD3 leiomodin 3 IAGP ORPHA:171430 HPO NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP ORPHA:495818 HPO NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LRP12 LDL receptor related protein 12 IAGP OMIM:164310 HPO NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP ORPHA:70472 HPO NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226 		JBrowse link
G LRRK2 leucine rich repeat kinase 2 IAGP ORPHA:411602 HPO NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285 		JBrowse link
G LUZP1 leucine zipper protein 1 IAGP ORPHA:1606 HPO NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,177,808 		JBrowse link
G MACF1 microtubule actin crosslinking factor 1 IAGP ORPHA:572013 HPO NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177 		JBrowse link
G MADD MAP kinase activating death domain IAGP OMIM:619004 HPO NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 IAGP OMIM:619775 HPO NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,612 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP ORPHA:638 HPO NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP ORPHA:2020 HPO NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MAPT microtubule associated protein tau IAGP OMIM:168600 OMIM:601104 ORPHA:240103 ORPHA:240112 HPO NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MATR3 matrin 3 IAGP OMIM:606070 ORPHA:600 HPO NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP OMIM:300260 HPO NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP ORPHA:508093 HPO NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942 		JBrowse link
G MED17 mediator complex subunit 17 IAGP OMIM:613668 HPO NCBI chr11:93,784,282...93,814,963
Ensembl chr11:93,784,227...93,814,963 		JBrowse link
G MEGF10 multiple EGF like domains 10 IAGP OMIM:614399 HPO NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737 		JBrowse link
G MFF mitochondrial fission factor IAGP ORPHA:485421 HPO NCBI chr 2:227,325,251...227,357,836
Ensembl chr 2:227,325,151...227,357,833 		JBrowse link
G MGME1 mitochondrial genome maintenance exonuclease 1 IAGP ORPHA:352447 HPO NCBI chr20:17,968,590...17,991,122
Ensembl chr20:17,969,018...17,991,122 		JBrowse link
G MID1 midline 1 IAGP OMIM:300000 HPO NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP OMIM:619527 HPO NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP OMIM:226600 ORPHA:79408 HPO NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP ORPHA:1606 HPO NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G MPZ myelin protein zero IAGP OMIM:607736 HPO NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G MRPS25 mitochondrial ribosomal protein S25 IAGP OMIM:619025 HPO NCBI chr 3:15,042,251...15,065,315
Ensembl chr 3:15,009,611...15,065,339 		JBrowse link
G MRPS28 mitochondrial ribosomal protein S28 IAGP OMIM:618958 HPO NCBI chr 8:79,918,717...80,030,259
Ensembl chr 8:79,918,717...80,030,289 		JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 IAGP OMIM:617664 HPO NCBI chr16:1,771,895...1,773,134
Ensembl chr16:1,771,890...1,773,150 		JBrowse link
G MSX1 msh homeobox 1 IAGP ORPHA:141291 HPO NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ORPHA:225154 ORPHA:255210 HPO NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ORPHA:255210 HPO NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP ORPHA:255210 HPO NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP ORPHA:255210 HPO NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP ORPHA:255210 HPO NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP ORPHA:255210 HPO NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP ORPHA:255210 HPO NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP ORPHA:255210 HPO NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ORPHA:255210 HPO NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TT mitochondrially encoded tRNA-Thr (ACN) IAGP OMIM:168600 HPO NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953 		JBrowse link
G MT-TV mitochondrially encoded tRNA-Val (GUN) IAGP ORPHA:255210 HPO NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP ORPHA:255210 HPO NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP OMIM:613559 HPO NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP OMIM:619350 HPO NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028 		JBrowse link
G MYH2 myosin heavy chain 2 IAGP OMIM:605637 HPO NCBI chr17:10,521,148...10,549,658
Ensembl chr17:10,521,148...10,549,700 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP OMIM:255310 HPO NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYH8 myosin heavy chain 8 IAGP OMIM:158300 HPO NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950 		JBrowse link
G MYL2 myosin light chain 2 IAGP ORPHA:2020 HPO NCBI chr12:110,910,845...110,920,579
Ensembl chr12:110,910,819...110,921,443 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP OMIM:254940 HPO NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G MYO1H myosin IH IAGP OMIM:619482 HPO NCBI chr12:109,310,468...109,448,379
Ensembl chr12:109,347,900...109,455,523 		JBrowse link
G MYO9A myosin IXA IAGP OMIM:618198 ORPHA:98914 HPO NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
G MYORG myogenesis regulating glycosidase (putative) IAGP OMIM:618317 HPO NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898 		JBrowse link
G MYOT myotilin IAGP OMIM:182920 ORPHA:266 HPO NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP OMIM:300855 HPO NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NCAPG2 non-SMC condensin II complex subunit G2 IAGP OMIM:618460 HPO NCBI chr 7:158,631,169...158,704,804
Ensembl chr 7:158,631,169...158,704,804 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ORPHA:89844 HPO NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 IAGP OMIM:618253 HPO NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884 		JBrowse link
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 IAGP OMIM:618247 HPO NCBI chr12:4,649,114...4,694,317
Ensembl chr12:4,649,095...4,694,317 		JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 IAGP OMIM:618233 HPO NCBI chr 5:60,945,205...61,153,026
Ensembl chr 5:60,945,177...61,154,531 		JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 IAGP ORPHA:70474 HPO NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495 		JBrowse link
G NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 IAGP ORPHA:70474 HPO NCBI chr10:100,523,729...100,529,923
Ensembl chr10:100,523,740...100,530,000 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP OMIM:618226 HPO NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP ORPHA:70474 HPO NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 IAGP OMIM:618230 HPO NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,562 		JBrowse link
G NEB nebulin IAGP OMIM:256030 ORPHA:171430 ORPHA:171433
ClinVar Annotator: match by term: Swallowing difficulty		 HPO
ClinVar		 PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP ORPHA:141291 HPO NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
G NEFL neurofilament light chain IAGP OMIM:607734 HPO NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP OMIM:617892 HPO NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G NEU1 neuraminidase 1 IAGP ORPHA:93399 HPO NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905 		JBrowse link
G NEUROD2 neuronal differentiation 2 IAGP OMIM:618374 HPO NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777 		JBrowse link
G NF1 neurofibromin 1 IAGP ORPHA:638 HPO NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP ORPHA:637 HPO NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G NODAL nodal growth differentiation factor IAGP ORPHA:220386 ORPHA:280195 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G NOP56 NOP56 ribonucleoprotein IAGP OMIM:614153 ORPHA:276198 HPO NCBI chr20:2,652,632...2,658,393
Ensembl chr20:2,652,593...2,658,393 		JBrowse link
G NOS1 nitric oxide synthase 1 IAGP ORPHA:930 HPO NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170 		JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP OMIM:619473 HPO NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833 		JBrowse link
G NOTCH3 notch receptor 3 IAGP ORPHA:136 HPO NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP OMIM:257220 HPO NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506 		JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 IAGP OMIM:607625 HPO NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP OMIM:168600 HPO NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G NSRP1 nuclear speckle splicing regulatory protein 1 IAGP OMIM:620001 HPO NCBI chr17:30,116,816...30,186,475
Ensembl chr17:30,115,521...30,186,475 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP ORPHA:642 HPO NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
G NUP62 nucleoporin 62 IAGP OMIM:271930 ORPHA:225154 HPO NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764 		JBrowse link
G NUTM2B-AS1 NUTM2B antisense RNA 1 IAGP OMIM:618637 HPO NCBI chr10:79,691,500...79,826,594
Ensembl chr10:79,661,394...79,826,594 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP ORPHA:98794 HPO NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP OMIM:210000 HPO NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G OPTN optineurin IAGP OMIM:613435 HPO NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308 		JBrowse link
G PABPN1 poly(A) binding protein nuclear 1 IAGP OMIM:164300 HPO NCBI chr14:23,321,457...23,326,163
Ensembl chr14:23,321,457...23,326,163 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP OMIM:234200 OMIM:607236 ORPHA:216866 ORPHA:216873 HPO NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G PAX7 paired box 7 IAGP OMIM:618578 HPO NCBI chr 1:18,630,846...18,748,866
Ensembl chr 1:18,630,846...18,748,866 		JBrowse link
G PCNA proliferating cell nuclear antigen IAGP OMIM:615919 HPO NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626 		JBrowse link
G PDE8B phosphodiesterase 8B IAGP ORPHA:228169 HPO NCBI chr 5:77,180,304...77,428,256
Ensembl chr 5:77,210,449...77,428,256 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP ORPHA:44890 HPO NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 IAGP OMIM:608782 HPO NCBI chr 8:93,916,923...93,926,068
Ensembl chr 8:93,857,807...93,926,068 		JBrowse link
G PDPN podoplanin IAGP ORPHA:1606 HPO NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP OMIM:214100 HPO NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP OMIM:614877 HPO NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812 		JBrowse link
G PFN1 profilin 1 IAGP OMIM:614808 HPO NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP OMIM:619708 HPO NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP ORPHA:447 HPO NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP ORPHA:280633 HPO NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 IAGP ORPHA:64753 HPO NCBI chr17:8,878,916...8,965,707
Ensembl chr17:8,878,911...8,965,712 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP OMIM:610217 ORPHA:199351 HPO NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP OMIM:617527 HPO NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP ORPHA:93925 HPO NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
G PLEC plectin IAGP ORPHA:254361 HPO NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PLP1 proteolipid protein 1 IAGP OMIM:312080 HPO NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G PLXND1 plexin D1 IAGP ORPHA:570 HPO NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676 		JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing IAGP OMIM:118800 HPO NCBI chr 2:218,270,519...218,346,793
Ensembl chr 2:218,269,651...218,346,793 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP OMIM:157640 OMIM:258450 OMIM:603041 OMIM:607459 ORPHA:254886 ORPHA:254892 ORPHA:298 ORPHA:94125 HPO NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP ORPHA:254892 HPO NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP OMIM:264090 OMIM:607694 ORPHA:447896 HPO NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POLR3B RNA polymerase III subunit B IAGP OMIM:607694 OMIM:614381 HPO NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G PRDM13 PR/SET domain 13 IAGP OMIM:619909 HPO NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP ORPHA:1606 HPO NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRDX3 peroxiredoxin 3 IAGP OMIM:619862 HPO NCBI chr10:119,167,720...119,178,812
Ensembl chr10:119,167,720...119,178,812 		JBrowse link
G PRKCG protein kinase C gamma IAGP OMIM:605361 HPO NCBI chr19:53,881,094...53,907,652
Ensembl chr19:53,879,190...53,907,652 		JBrowse link
G PRKCZ protein kinase C zeta IAGP ORPHA:1606 HPO NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP OMIM:612067 ORPHA:210571 HPO NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		JBrowse link
G PRNP prion protein IAGP OMIM:600072 HPO NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP OMIM:301835 HPO NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G PSAP prosaposin IAGP OMIM:249900 HPO NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G PSEN1 presenilin 1 IAGP OMIM:607822 HPO NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G PTCH1 patched 1 IAGP ORPHA:220386 ORPHA:280195 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTS 6-pyruvoyltetrahydropterin synthase IAGP OMIM:261640 ORPHA:13 HPO NCBI chr11:112,226,428...112,233,973
Ensembl chr11:112,226,367...112,269,955 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP ORPHA:508488 HPO NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ORPHA:488627 HPO NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated IAGP ORPHA:368 HPO NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974 		JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 IAGP OMIM:617258 HPO NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250 		JBrowse link
G QDPR quinoid dihydropteridine reductase IAGP OMIM:261630 ORPHA:226 HPO NCBI chr 4:17,486,395...17,512,090
Ensembl chr 4:17,460,261...17,512,206 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP OMIM:610250 ORPHA:101011 HPO NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G RELN reelin IAGP ORPHA:89844 HPO NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658 		JBrowse link
G REPS1 RALBP1 associated Eps domain containing 1 IAGP OMIM:617916 HPO NCBI chr 6:138,903,493...138,988,253
Ensembl chr 6:138,903,493...138,988,261 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP ORPHA:494344 HPO NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G REV3L REV3 like, DNA directed polymerase zeta catalytic subunit IAGP ORPHA:570 HPO NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715 		JBrowse link
G RHBDF2 rhomboid 5 homolog 2 IAGP ORPHA:2198 HPO NCBI chr17:76,470,893...76,501,427
Ensembl chr17:76,470,891...76,501,790 		JBrowse link
G RIF1 replication timing regulatory factor 1 IAGP ClinVar Annotator: match by term: Swallowing difficulty ClinVar PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr 2:151,409,902...151,534,435
Ensembl chr 2:151,409,883...151,508,013 		JBrowse link
G RILPL1 Rab interacting lysosomal protein like 1 IAGP OMIM:619790 HPO NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719 		JBrowse link
G RLIM ring finger protein, LIM domain interacting IAGP OMIM:300978 HPO NCBI chr  X:74,582,976...74,614,624
Ensembl chr  X:74,582,976...74,614,624 		JBrowse link
G RNASEH1 ribonuclease H1 IAGP OMIM:616479 ORPHA:329336 HPO NCBI chr 2:3,522,355...3,558,333
Ensembl chr 2:3,541,430...3,558,333 		JBrowse link
G RNF170 ring finger protein 170 IAGP OMIM:619686 HPO NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP OMIM:613077 ORPHA:254892 ORPHA:298 ORPHA:329336 HPO NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP OMIM:255310 HPO NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SACS sacsin molecular chaperone IAGP ORPHA:98 HPO NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763 		JBrowse link
G SATB1 SATB homeobox 1 IAGP OMIM:619229 HPO NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621 		JBrowse link
G SATB2 SATB homeobox 2 IAGP ORPHA:576283 HPO NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP OMIM:254900 HPO NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP OMIM:617938 HPO NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP ORPHA:684 ORPHA:99735 ORPHA:99736 HPO NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP ORPHA:70474 HPO NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP ORPHA:44890 HPO 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 OMIM:606764 ORPHA:44890 ORPHA:97286 HPO NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP OMIM:606764 ORPHA:44890 ORPHA:97286 HPO NCBI chr 1:161,314,381...161,375,340
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP ORPHA:97286 HPO NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SELENON selenoprotein N IAGP OMIM:255310 HPO NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SERPING1 serpin family G member 1 IAGP ORPHA:100050 HPO NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171 		JBrowse link
G SETBP1 SET binding protein 1 IAGP ORPHA:798 HPO NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SETX senataxin IAGP OMIM:606002 ORPHA:64753 HPO NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:220386 ORPHA:280195 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP ORPHA:300605 HPO NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
G SIK1 salt inducible kinase 1 IAGP ORPHA:1935 HPO NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131 		JBrowse link
G SIX3 SIX homeobox 3 IAGP ORPHA:220386 ORPHA:280195 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SKI SKI proto-oncogene IAGP ORPHA:1606 HPO NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC12A2 solute carrier family 12 member 2 IAGP OMIM:619083 HPO NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP ORPHA:98914 HPO NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC19A3 solute carrier family 19 member 3 IAGP OMIM:607483 HPO NCBI chr 2:227,683,763...227,718,028
Ensembl chr 2:227,683,763...227,718,028 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 IAGP ORPHA:447997 HPO NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP ORPHA:98914 HPO NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP ORPHA:1935 HPO NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP ORPHA:254892 HPO NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC44A1 solute carrier family 44 member 1 IAGP OMIM:618868 HPO NCBI chr 9:105,244,651...105,438,504
Ensembl chr 9:105,244,622...105,439,171 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 IAGP OMIM:614707 HPO NCBI chr 8:144,358,552...144,361,272
Ensembl chr 8:144,333,957...144,361,286 		JBrowse link
G SLC52A3 solute carrier family 52 member 3 IAGP OMIM:211500 OMIM:211530 HPO NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP OMIM:617143 ORPHA:98914 HPO NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 IAGP ClinVar Annotator: match by term: Dysphagia ClinVar NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 IAGP OMIM:617301 HPO NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP OMIM:300243 ORPHA:85278 HPO NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP ORPHA:220386 HPO NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP ORPHA:98914 HPO NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258 		JBrowse link
G SNCA synuclein alpha IAGP OMIM:168601 ORPHA:171695 ORPHA:411602 HPO NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315 		JBrowse link
G SNCAIP synuclein alpha interacting protein IAGP OMIM:168600 HPO NCBI chr 5:122,311,353...122,464,219
Ensembl chr 5:122,311,354...122,464,219 		JBrowse link
G SON SON DNA and RNA binding protein IAGP ORPHA:500150 HPO NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G SPART spartin IAGP ORPHA:101000 HPO NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180 		JBrowse link
G SPEN spen family transcriptional repressor IAGP OMIM:619312 HPO NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP OMIM:604360 ORPHA:2822 ORPHA:300605 HPO NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin IAGP OMIM:248900 ORPHA:101001 HPO NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP OMIM:607259 ORPHA:35689 ORPHA:99013 HPO NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP OMIM:617519 HPO NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP ORPHA:300605 HPO NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
G SQSTM1 sequestosome 1 IAGP OMIM:616437 ORPHA:275872 HPO NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP OMIM:612379 HPO NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100 		JBrowse link
G STAG2 stromal antigen 2 IAGP ORPHA:93925 HPO NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G STIL STIL centriolar assembly protein IAGP ORPHA:220386 ORPHA:280195 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP OMIM:618093 ORPHA:412057 HPO NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP ORPHA:495818 HPO NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP ORPHA:70474 HPO NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP OMIM:615530 HPO NCBI chr21:32,628,759...32,728,040
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G SYT14 synaptotagmin 14 IAGP OMIM:614229 ORPHA:284271 HPO NCBI chr 1:209,938,217...210,171,389
Ensembl chr 1:209,900,923...210,171,389 		JBrowse link
G SYT2 synaptotagmin 2 IAGP ORPHA:98914 HPO NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog IAGP ClinVar Annotator: match by term: Dysphagia ClinVar PMID:35321494 NCBI chr 3:11,721,896...11,846,885
Ensembl chr 3:11,790,442...11,846,919 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP ORPHA:480864 HPO NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164 		JBrowse link
G TARDBP TAR DNA binding protein IAGP OMIM:612069 ORPHA:275872 HPO NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528 		JBrowse link
G TBC1D23 TBC1 domain family member 23 IAGP OMIM:617695 HPO NCBI chr 3:100,260,992...100,325,238
Ensembl chr 3:100,260,992...100,325,251 		JBrowse link
G TBCD tubulin folding cofactor D IAGP ORPHA:496641 HPO NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914 		JBrowse link
G TBK1 TANK binding kinase 1 IAGP OMIM:616439 ORPHA:275872 HPO NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
G TBP TATA-box binding protein IAGP OMIM:168600 OMIM:607136 HPO NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870 		JBrowse link
G TDGF1 teratocarcinoma-derived growth factor 1 IAGP ORPHA:220386 ORPHA:280195 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G TFG trafficking from ER to golgi regulator IAGP ORPHA:90117 HPO NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP ORPHA:220386 ORPHA:280195 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP OMIM:304700 ORPHA:52368 HPO NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G TK2 thymidine kinase 2 IAGP OMIM:617069 ORPHA:254875 ORPHA:254886 HPO NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G TOP3A DNA topoisomerase III alpha IAGP OMIM:618098 HPO NCBI chr17:18,271,428...18,314,994
Ensembl chr17:18,271,428...18,315,007 		JBrowse link
G TOR1A torsin family 1 member A IAGP OMIM:128100 HPO NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TP63 tumor protein p63 IAGP ORPHA:141291 HPO NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TPM2 tropomyosin 2 IAGP OMIM:255310 HPO NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP OMIM:255310 OMIM:609284 ORPHA:171433 ORPHA:2020 HPO NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 IAGP ORPHA:500144 HPO NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094 		JBrowse link
G TRAPPC6B trafficking protein particle complex subunit 6B IAGP OMIM:617862 HPO NCBI chr14:39,147,814...39,170,333
Ensembl chr14:39,147,811...39,170,532 		JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor IAGP OMIM:617061 HPO NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128 		JBrowse link
G TRIP4 thyroid hormone receptor interactor 4 IAGP OMIM:616866 HPO NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303 		JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 IAGP OMIM:612389 HPO NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP OMIM:225753 HPO NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G TTBK2 tau tubulin kinase 2 IAGP ORPHA:98767 HPO NCBI chr15:42,738,730...42,921,000
Ensembl chr15:42,738,730...42,920,809 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP OMIM:128101 ORPHA:98805 HPO NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
G TUBB6 tubulin beta 6 class V IAGP OMIM:617732 HPO NCBI chr18:12,307,669...12,329,826
Ensembl chr18:12,307,669...12,344,320 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP OMIM:271245 OMIM:607459 OMIM:609286 ORPHA:254892 HPO NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G TYMP thymidine phosphorylase IAGP ORPHA:298 HPO NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
G TYMS thymidylate synthetase IAGP OMIM:620040 HPO NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP ORPHA:411511 ORPHA:98794 ORPHA:98795 HPO NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051 		JBrowse link
G UBE4B ubiquitination factor E4B IAGP ORPHA:1606 HPO NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239 		JBrowse link
G UBQLN2 ubiquilin 2 IAGP OMIM:300857 HPO NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868 		JBrowse link
G UBTF upstream binding transcription factor IAGP ORPHA:500180 HPO NCBI chr17:44,205,040...44,221,304
Ensembl chr17:44,205,033...44,221,626 		JBrowse link
G UNC45B unc-45 myosin chaperone B IAGP OMIM:619178 HPO NCBI chr17:35,147,817...35,189,345
Ensembl chr17:35,147,817...35,189,345 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP OMIM:617054 HPO NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP OMIM:108600 OMIM:618323 ORPHA:251282 ORPHA:98914 HPO NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677 		JBrowse link
G VAPB VAMP associated protein B and C IAGP OMIM:608627 HPO NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101 		JBrowse link
G VARS1 valyl-tRNA synthetase 1 IAGP OMIM:617802 HPO NCBI chr 6:31,777,518...31,795,752
Ensembl chr 6:31,777,518...31,795,752 		JBrowse link
G VCP valosin containing protein IAGP ORPHA:275872 HPO NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP OMIM:619637 HPO NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP ORPHA:2388 HPO NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
G VPS35 VPS35 retromer complex component IAGP ORPHA:411602 HPO NCBI chr16:46,656,132...46,689,178
Ensembl chr16:46,656,132...46,689,518 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP OMIM:607596 HPO NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
G WAC WW domain containing adaptor with coiled-coil IAGP ORPHA:466950 HPO NCBI chr10:28,532,779...28,623,112
Ensembl chr10:28,532,493...28,623,112 		JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP ORPHA:572798 HPO NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP OMIM:222300 HPO NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 IAGP OMIM:617633 HPO NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 IAGP OMIM:613561 HPO NCBI chr12:32,746,544...32,755,897
Ensembl chr12:32,727,490...32,755,897 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP OMIM:301041 HPO NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP ORPHA:261552 HPO NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZIC2 Zic family member 2 IAGP ORPHA:220386 ORPHA:280195 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
G ZMYM2 zinc finger MYM-type containing 2 IAGP OMIM:619522 HPO NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829 		JBrowse link
Enterocolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELANE elastase, neutrophil expressed IAGP ORPHA:2686 HPO NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha IAGP OMIM:613148 HPO 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 OMIM:612567 HPO 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 OMIM:616050 HPO NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732 		JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing IAGP OMIM:260005 HPO NCBI chr 8:144,050,322...144,063,961
Ensembl chr 8:144,051,266...144,063,965 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IAGP OMIM:619802 HPO NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980 		JBrowse link
G PLCG2 phospholipase C gamma 2 IAGP OMIM:614878 HPO NCBI chr16:81,779,291...81,962,685
Ensembl chr16:81,779,279...81,962,685 		JBrowse link
G RET ret proto-oncogene IAGP OMIM:142623 HPO NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP ORPHA:79259 HPO NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP ORPHA:391487 HPO NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G TOM1 target of myb1 membrane trafficking protein IAGP ORPHA:391487 HPO NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992 		JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP OMIM:243150 HPO NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137 		JBrowse link
Eosinophilic infiltration of the esophagus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOCK8 dedicator of cytokinesis 8 IAGP OMIM:243700 HPO NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
G SMAD3 SMAD family member 3 IAGP OMIM:613795 HPO NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP OMIM:618213 HPO NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP OMIM:614816 HPO NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP OMIM:615582 HPO NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP OMIM:609192 HPO NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP OMIM:610168 HPO NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142 		JBrowse link
Esophageal spasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP ORPHA:447 HPO NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
Esophagitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP ORPHA:1901 HPO NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP ORPHA:1901 HPO NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 IAGP ORPHA:3197 HPO NCBI chr10:87,751,512...87,841,361
Ensembl chr10:87,751,512...87,841,361 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP ORPHA:198 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G CARD8 caspase recruitment domain family member 8 IAGP OMIM:619079 HPO NCBI chr19:48,179,825...48,255,946
Ensembl chr19:48,180,770...48,255,946 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP OMIM:618131 HPO NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP ORPHA:276152 HPO NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G ELF4 E74 like ETS transcription factor 4 IAGP OMIM:301074 HPO NCBI chr  X:130,063,955...130,111,927
Ensembl chr  X:130,063,955...130,110,716 		JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP ORPHA:2908 HPO NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214 		JBrowse link
G GLRA1 glycine receptor alpha 1 IAGP ORPHA:3197 HPO NCBI chr 5:151,822,513...151,924,851
Ensembl chr 5:151,822,513...151,924,851 		JBrowse link
G GLRB glycine receptor beta IAGP ORPHA:3197 HPO NCBI chr 4:157,076,150...157,172,090
Ensembl chr 4:157,076,125...157,172,090 		JBrowse link
G GPHN gephyrin IAGP ORPHA:3197 HPO NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803 		JBrowse link
G GRB10 growth factor receptor bound protein 10 IAGP ORPHA:96182 HPO NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462 		JBrowse link
G IARS1 isoleucyl-tRNA synthetase 1 IAGP ORPHA:541423 HPO NCBI chr 9:92,210,207...92,293,697
Ensembl chr 9:92,210,207...92,293,854 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP ORPHA:495818 HPO NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MEN1 menin 1 IAGP OMIM:131100 HPO NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP OMIM:619350 HPO NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028 		JBrowse link
G PGM3 phosphoglucomutase 3 IAGP ORPHA:443811 HPO NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP ORPHA:79351 HPO NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PSPH phosphoserine phosphatase IAGP ORPHA:79350 HPO NCBI chr 7:56,011,064...56,051,444
Ensembl chr 7:56,011,051...56,051,604 		JBrowse link
G REL REL proto-oncogene, NF-kB subunit IAGP OMIM:619652 HPO NCBI chr 2:60,881,574...60,931,612
Ensembl chr 2:60,881,491...60,931,612 		JBrowse link
G RPL11 ribosomal protein L11 IAGP OMIM:612562 HPO NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP ORPHA:3342 HPO NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SLC6A5 solute carrier family 6 member 5 IAGP ORPHA:3197 HPO NCBI chr11:20,599,608...20,659,285
Ensembl chr11:20,599,594...20,659,285 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP ORPHA:495818 HPO NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G TCF4 transcription factor 4 IAGP ORPHA:2896 HPO NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP OMIM:615356 HPO NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594 		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 OMIM:616433 HPO NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382 		JBrowse link
Frequent Giardia lamblia infestation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFKB2 nuclear factor kappa B subunit 2 IAGP OMIM:615577 HPO NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524 		JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 IAGP OMIM:300310 HPO NCBI chr  X:19,533,977...19,887,600
Ensembl chr  X:19,533,977...19,887,600 		JBrowse link
Functional intestinal obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated IAGP ORPHA:1333 HPO 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 ORPHA:1333 HPO NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ORPHA:1333 HPO NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP OMIM:243180 HPO NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ORPHA:1333 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ORPHA:1333 HPO NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PALLD palladin, cytoskeletal associated protein IAGP ORPHA:1333 HPO NCBI chr 4:168,497,052...168,928,441
Ensembl chr 4:168,497,052...168,928,457 		JBrowse link
G RABL3 RAB, member of RAS oncogene family like 3 IAGP ORPHA:1333 HPO NCBI chr 3:120,684,938...120,742,680
Ensembl chr 3:120,684,938...120,742,993 		JBrowse link
G SMAD4 SMAD family member 4 IAGP ORPHA:1333 HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045 		JBrowse link
G TP53 tumor protein p53 IAGP ORPHA:1333 HPO NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
Gastroesophageal reflux term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP ORPHA:442835 HPO NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G AASS aminoadipate-semialdehyde synthase IAGP ORPHA:2203 HPO NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308 		JBrowse link
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ORPHA:2032 HPO NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746 		JBrowse link
G ABCC8 ATP binding cassette subfamily C member 8 IAGP ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ABCD4 ATP binding cassette subfamily D member 4 IAGP OMIM:614857 HPO NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain IAGP OMIM:201475 HPO NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266 		JBrowse link
G ACTL6A actin like 6A IAGP ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:25741868 PMID:28649782 NCBI chr 3:179,562,926...179,588,407
Ensembl chr 3:179,562,886...179,588,407 		JBrowse link
G ACTL6B actin like 6B IAGP ORPHA:442835 HPO NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448 		JBrowse link
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP ORPHA:1901 HPO NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP ORPHA:1901 HPO NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP ORPHA:225154 HPO NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 IAGP ORPHA:363528 HPO NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447 		JBrowse link
G ADCY9 adenylate cyclase 9 IAGP ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:25741868 NCBI chr16:3,953,387...4,116,442
Ensembl chr16:3,953,387...4,116,442 		JBrowse link
G ADGRG1 adhesion G protein-coupled receptor G1 IAGP ORPHA:98889 HPO NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP ORPHA:404448 HPO NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G AFF3 ALF transcription elongation factor 3 IAGP OMIM:619297 HPO NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
G AFF4 ALF transcription elongation factor 4 IAGP ORPHA:444077 HPO NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634 		JBrowse link
G AGO2 argonaute RISC catalytic component 2 IAGP OMIM:619149 HPO NCBI chr 8:140,520,156...140,642,313
Ensembl chr 8:140,520,156...140,635,633 		JBrowse link
G AGRN agrin IAGP ORPHA:98914 HPO NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP ORPHA:447757 HPO NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP ORPHA:79324 HPO NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP OMIM:607906 HPO NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP ORPHA:79328 HPO NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP ORPHA:64 HPO NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP OMIM:300373 HPO NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP OMIM:608233 HPO NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762 		JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 IAGP ORPHA:442835 HPO NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP ORPHA:821 HPO NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ARCN1 archain 1 IAGP OMIM:617164 HPO NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033 		JBrowse link
G ARF1 ADP ribosylation factor 1 IAGP ORPHA:98892 HPO NCBI chr 1:228,082,708...228,099,212
Ensembl chr 1:228,082,708...228,099,212 		JBrowse link
G ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 IAGP ORPHA:98892 HPO NCBI chr20:48,921,711...49,036,693
Ensembl chr20:48,921,711...49,036,693 		JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP OMIM:617808 HPO NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP OMIM:615926 HPO NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933 		JBrowse link
G ARSL arylsulfatase L IAGP ORPHA:79345 HPO NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator IAGP ORPHA:442835 HPO NCBI chr 1:230,979,094...231,000,733
Ensembl chr 1:230,978,981...231,000,733 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ORPHA:567 HPO NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G ASCC1 activating signal cointegrator 1 complex subunit 1 IAGP OMIM:614266 HPO NCBI chr10:72,096,032...72,217,134
Ensembl chr10:72,096,032...72,217,134 		JBrowse link
G ASCL1 achaete-scute family bHLH transcription factor 1 IAGP ORPHA:99803 HPO NCBI chr12:102,957,674...102,960,513
Ensembl chr12:102,957,674...102,960,513 		JBrowse link
G ASIC4-AS1 ASIC4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Acid reflux ClinVar PMID:24035193 NCBI chr 2:219,481,732...219,517,086
Ensembl chr 2:219,482,073...219,516,877 		JBrowse link
G ASPA aspartoacylase IAGP ORPHA:314911 HPO NCBI chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP OMIM:605039 HPO NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP OMIM:615485 HPO NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 IAGP ORPHA:3197 HPO NCBI chr10:87,751,512...87,841,361
Ensembl chr10:87,751,512...87,841,361 		JBrowse link
G ATL1 atlastin GTPase 1 IAGP ORPHA:36386 HPO NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017 		JBrowse link
G ATL3 atlastin GTPase 3 IAGP ORPHA:36386 HPO NCBI chr11:63,624,087...63,671,974
Ensembl chr11:63,624,087...63,671,921 		JBrowse link
G ATN1 atrophin 1 IAGP OMIM:618494 HPO NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G ATP11A ATPase phospholipid transporting 11A IAGP ORPHA:2032 HPO NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP ORPHA:442835 HPO NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ORPHA:442835 HPO NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP6V0A1 ATPase H+ transporting V0 subunit a1 IAGP OMIM:619971 HPO NCBI chr17:42,458,878...42,522,579
Ensembl chr17:42,458,844...42,522,582 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP ORPHA:442835 HPO NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP ORPHA:79500 HPO NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP ORPHA:198 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP OMIM:301040 OMIM:309580 ORPHA:847 HPO NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP ORPHA:904 HPO NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP ORPHA:904 HPO NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690 		JBrowse link
G BICRA BRD4 interacting chromatin remodeling complex associated protein IAGP OMIM:619325 HPO NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277 		JBrowse link
G BLM BLM RecQ like helicase IAGP ORPHA:125 HPO NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP OMIM:115150 HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRD4 bromodomain containing 4 IAGP ORPHA:199 HPO NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP ORPHA:904 HPO NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ORPHA:442835 HPO NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B IAGP ORPHA:442835 HPO NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP OMIM:620029 HPO NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CACNA1I calcium voltage-gated channel subunit alpha1 I IAGP OMIM:620114 HPO NCBI chr22:39,570,753...39,689,735
Ensembl chr22:39,570,753...39,689,735 		JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP ORPHA:442835 HPO NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956 		JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta IAGP OMIM:617799 HPO NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577 		JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 IAGP OMIM:614756 HPO NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706 		JBrowse link
G CASZ1 castor zinc finger 1 IAGP ORPHA:1606 HPO NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650 		JBrowse link
G CAV1 caveolin 1 IAGP ORPHA:220393 ORPHA:220402 HPO NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP ORPHA:7 HPO NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CCDC47 coiled-coil domain containing 47 IAGP OMIM:618268 HPO NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP ORPHA:220393 ORPHA:220402 HPO NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCR6 C-C motif chemokine receptor 6 IAGP ORPHA:220393 ORPHA:220402 HPO NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141 		JBrowse link
G CDC6 cell division cycle 6 IAGP OMIM:613805 HPO NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G CDK13 cyclin dependent kinase 13 IAGP OMIM:617360 HPO NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580 		JBrowse link
G CDK19 cyclin dependent kinase 19 IAGP ORPHA:442835 HPO NCBI chr 6:110,609,978...110,815,855
Ensembl chr 6:110,609,978...110,815,958 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP OMIM:300672 HPO NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP ORPHA:652 HPO NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP ORPHA:652 HPO NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP ORPHA:652 HPO NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP ORPHA:652 HPO NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G CEACAM3 CEA cell adhesion molecule 3 IAGP ORPHA:586 HPO 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 ORPHA:586 HPO NCBI chr19:41,755,530...41,772,211
Ensembl chr19:41,750,977...41,772,211 		JBrowse link
G CELF2 CUGBP Elav-like family member 2 IAGP ORPHA:442835 HPO NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675 		JBrowse link
G CENPT centromere protein T IAGP OMIM:618702 HPO NCBI chr16:67,828,157...67,847,693
Ensembl chr16:67,828,157...67,847,811 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP ORPHA:586 HPO NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CHAMP1 chromosome alignment maintaining phosphoprotein 1 IAGP OMIM:616579 HPO NCBI chr13:114,314,503...114,327,322
Ensembl chr13:114,314,482...114,337,626 		JBrowse link
G CHAT choline O-acetyltransferase IAGP ORPHA:98914
ClinVar Annotator: match by term: Gastroesophageal reflux		 HPO
ClinVar		 PMID:15701560 PMID:25741868 PMID:28492532 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ORPHA:138 HPO NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHMP1A charged multivesicular body protein 1A IAGP OMIM:614961 HPO NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738 		JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit IAGP OMIM:191800 HPO NCBI chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295 		JBrowse link
G CLCA4 chloride channel accessory 4 IAGP ORPHA:586 HPO NCBI chr 1:86,547,078...86,580,754
Ensembl chr 1:86,547,078...86,580,754 		JBrowse link
G CLCN4 chloride voltage-gated channel 4 IAGP ORPHA:485350 HPO NCBI chr  X:10,156,975...10,237,660
Ensembl chr  X:10,156,975...10,237,660 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP ORPHA:904 HPO NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G CLTC clathrin heavy chain IAGP OMIM:617854 ORPHA:442835 HPO NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,684...59,696,956 		JBrowse link
G CNKSR2 connector enhancer of kinase suppressor of Ras 2 IAGP ORPHA:442835 HPO NCBI chr  X:21,374,418...21,654,689
Ensembl chr  X:21,372,801...21,654,695 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP OMIM:618186 HPO NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G COG7 component of oligomeric golgi complex 7 IAGP OMIM:608779 HPO NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP OMIM:616720 ORPHA:98914 HPO NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ORPHA:287 HPO NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:93316 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP ORPHA:1018 HPO NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G COL4A6 collagen type IV alpha 6 chain IAGP ORPHA:1018 HPO NCBI chr  X:108,155,614...108,439,458
Ensembl chr  X:108,155,607...108,439,497 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ORPHA:287 HPO NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP ORPHA:287 HPO NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP ORPHA:89842 HPO NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G COMT catechol-O-methyltransferase IAGP ORPHA:567 HPO NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G CORO7 coronin 7 IAGP ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:25741868 NCBI chr16:4,354,542...4,416,596
Ensembl chr16:4,354,542...4,425,705 		JBrowse link
G CORO7-PAM16 CORO7-PAM16 readthrough IAGP ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:25741868 NCBI chr16:4,340,251...4,416,596
Ensembl chr16:4,340,251...4,420,494 		JBrowse link
G CPLX1 complexin 1 IAGP OMIM:194190 HPO NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CPSF3 cleavage and polyadenylation specific factor 3 IAGP OMIM:619876 HPO NCBI chr 2:9,423,654...9,473,101
Ensembl chr 2:9,423,651...9,473,101 		JBrowse link
G CREBBP CREB binding protein IAGP OMIM:180849 OMIM:618332 ORPHA:353277 ORPHA:353281
ClinVar Annotator: match by term: Gastroesophageal reflux		 HPO
ClinVar		 PMID:25741868 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP ORPHA:930 HPO NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP ORPHA:397715 HPO NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP OMIM:194190 HPO NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G CTCF CCCTC-binding factor IAGP ORPHA:363611 HPO NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G CTHRC1 collagen triple helix repeat containing 1 IAGP OMIM:614266 HPO NCBI chr 8:103,371,538...103,382,989
Ensembl chr 8:103,371,538...103,382,989 		JBrowse link
G CYFIP2 cytoplasmic FMR1 interacting protein 2 IAGP ORPHA:442835 HPO NCBI chr 5:157,266,123...157,395,594
Ensembl chr 5:157,266,079...157,395,595 		JBrowse link
G DALRD3 DALR anticodon binding domain containing 3 IAGP ORPHA:442835 HPO NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293 		JBrowse link
G DCTN4 dynactin subunit 4 IAGP ORPHA:586 HPO NCBI chr 5:150,708,440...150,759,017
Ensembl chr 5:150,708,440...150,759,095 		JBrowse link
G DDB1 damage specific DNA binding protein 1 IAGP OMIM:619426 HPO NCBI chr11:61,299,451...61,333,105
Ensembl chr11:61,299,451...61,342,596 		JBrowse link
G DDC dopa decarboxylase IAGP OMIM:608643 HPO NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405 		JBrowse link
G DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit IAGP OMIM:614507 ORPHA:300536 HPO NCBI chr 1:20,651,777...20,661,369
Ensembl chr 1:20,651,767...20,661,544 		JBrowse link
G DEAF1 DEAF1 transcription factor IAGP ORPHA:819 HPO NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP OMIM:270400 ORPHA:818 HPO NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DHDDS dehydrodolichyl diphosphate synthase subunit IAGP ORPHA:442835 HPO NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995 		JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565 		JBrowse link
G DMPK DM1 protein kinase IAGP ORPHA:589821 HPO NCBI chr19:45,769,709...45,782,490
Ensembl chr19:45,769,709...45,782,552 		JBrowse link
G