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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:Abnormal abdomen morphology
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Accession:HP:0001438 term browser browse the term
Definition:A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
Synonyms:exact_synonym: Abnormality of abdomen morphology;   Abnormality of abdomen structure;   Abnormality of the abdomen
 related_synonym: Abdomen abnormality
 xref: UMLS:C4020869


show annotations for term's descendants           Sort by:
Abnormal abdomen morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO MIM:216100 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FABP3 fatty acid binding protein 3 susceptibility IAGP DNA:deletion:3' utr:c.634+483delT RGD PMID:12872269 RGD:1578461 NCBI chr 1:31,359,588...31,373,076
Ensembl chr 1:31,365,253...31,376,850 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP HPO MIM:252650 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009 		JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO MIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO MIM:216360 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
Abdominal adhesions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO MIM:616395 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
Abdominal mass term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase IAGP HPO ORPHA:635 NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP HPO MIM:615989 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:654 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP HPO ORPHA:654 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G GPC3 glypican 3 IAGP HPO ORPHA:654 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP HPO ORPHA:654 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552 		JBrowse link
G HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 IAGP HPO ORPHA:635 NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO MIM:256700 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G LIN28B lin-28 homolog B IAGP HPO ORPHA:635 NCBI chr 6:104,937,026...105,083,332
Ensembl chr 6:104,936,616...105,083,332 		JBrowse link
G LMO1 LIM domain only 1 IAGP HPO ORPHA:635 NCBI chr11:8,224,309...8,268,787
Ensembl chr11:8,224,309...8,268,716 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO ORPHA:635 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G PHOX2B paired like homeobox 2B IAGP HPO ORPHA:635 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725 		JBrowse link
G POU6F2 POU class 6 homeobox 2 IAGP HPO ORPHA:654 NCBI chr 7:38,977,909...39,468,601
Ensembl chr 7:38,977,909...39,493,095 		JBrowse link
G REST RE1 silencing transcription factor IAGP HPO ORPHA:654 NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808 		JBrowse link
G TRIM28 tripartite motif containing 28 IAGP HPO ORPHA:654 NCBI chr19:58,544,064...58,550,715
Ensembl chr19:58,544,064...58,550,722 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:654 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:654 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Ascites term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 IAGP HPO ORPHA:69665 NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO MIM:602347 ORPHA:69665 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ACTN4 actinin alpha 4 IAGP HPO MIM:603278 NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589 		JBrowse link
G ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 IAGP HPO ORPHA:2136 NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221 		JBrowse link
G AGGF1 angiogenic factor with G-patch and FHA domains 1 IAGP HPO ORPHA:90308 NCBI chr 5:77,030,404...77,065,234
Ensembl chr 5:77,029,251...77,065,234 		JBrowse link
G ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP HPO MIM:608104 ORPHA:79325 NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO MIM:608776 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO ORPHA:974 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714 		JBrowse link
G ARL6IP6 ARF like GTPase 6 interacting protein 6 IAGP HPO ORPHA:1556 NCBI chr 2:152,717,648...152,762,396
Ensembl chr 2:152,717,647...152,762,396 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98850 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO MIM:301045 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO MIM:277900 ORPHA:905 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 IAGP HPO ORPHA:69665 NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315 		JBrowse link
G BCL2 BCL2 apoptosis regulator IAGP HPO ORPHA:545 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G BCL6 BCL6 transcription repressor IAGP HPO ORPHA:545 NCBI chr 3:187,721,377...187,745,468
Ensembl chr 3:187,721,377...187,745,725 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO MIM:235200 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO ORPHA:1052 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO ORPHA:1052 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G BUB3 BUB3 mitotic checkpoint protein IAGP HPO ORPHA:1052 NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467 		JBrowse link
G CALR calreticulin IAGP HPO ORPHA:131 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO ORPHA:98850 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO ORPHA:2136 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CD27 CD27 molecule IAGP HPO MIM:615122 NCBI chr12:6,443,892...6,451,713
Ensembl chr12:6,444,955...6,451,718 		JBrowse link
G CD55 CD55 molecule (Cromer blood group) IAGP HPO MIM:226300 NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804 		JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO ORPHA:1052 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G CYBB cytochrome b-245 beta chain IAGP HPO MIM:306400 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461 		JBrowse link
G DCDC2 doublecortin domain containing 2 IAGP HPO MIM:617394 ORPHA:84081 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059 		JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor IAGP HPO MIM:619573 NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771 		JBrowse link
G DGUOK deoxyguanosine kinase IAGP HPO MIM:251880 NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP HPO MIM:267000 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO ORPHA:974 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G DNASE1L3 deoxyribonuclease 1L3 IAGP HPO ORPHA:36412 NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO ORPHA:974 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like IAGP HPO ORPHA:731 NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO ORPHA:1667 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO ORPHA:974 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684 		JBrowse link
G EPHB4 EPH receptor B4 IAGP HPO MIM:617300 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO MIM:610965 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G EWSR1 EWS RNA binding protein 1 IAGP HPO ORPHA:83469 NCBI chr22:29,268,268...29,300,521
Ensembl chr22:29,268,009...29,300,525 		JBrowse link
G F5 coagulation factor V IAGP HPO ORPHA:131 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G FAH fumarylacetoacetate hydrolase IAGP HPO MIM:276700 NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO MIM:602361 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039 		JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta IAGP HPO MIM:613658 NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Ascites ClinVar
HPO		 PMID:25741868 PMID:28492532 ORPHA:2136 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FH fumarate hydratase IAGP HPO MIM:606812 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:370348 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G FOCAD focadhesin IAGP HPO MIM:619991 NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955 		JBrowse link
G FSHR follicle stimulating hormone receptor IAGP HPO MIM:608115 ORPHA:64739 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP HPO ORPHA:79239 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:608013 ORPHA:77259 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 IAGP HPO MIM:232500 NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645 		JBrowse link
G GIMAP5 GTPase, IMAP family member 5 IAGP HPO MIM:619463 NCBI chr 7:150,737,418...150,743,646
Ensembl chr 7:150,722,253...150,750,033 		JBrowse link
G GNA11 G protein subunit alpha 11 IAGP HPO ORPHA:1556 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP HPO ORPHA:171 NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP HPO MIM:617667 NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162 		JBrowse link
G GUSB glucuronidase beta IAGP HPO ORPHA:584 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO MIM:235200 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:545 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO MIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G IGH immunoglobulin heavy locus IAGP HPO ORPHA:545 NCBI chr14:105,586,437...106,879,844 JBrowse link
G IL12A interleukin 12A IAGP HPO ORPHA:186 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019 		JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 IAGP HPO ORPHA:186 NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:93552 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:186 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:131 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KIF20A kinesin family member 20A IAGP HPO MIM:619433 NCBI chr 5:138,179,112...138,187,723
Ensembl chr 5:138,178,719...138,187,723 		JBrowse link
G KRT18 keratin 18 IAGP HPO MIM:215600 NCBI chr12:52,948,855...52,952,906
Ensembl chr12:52,948,871...52,952,906 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:617021 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LBR lamin B receptor IAGP HPO ORPHA:779 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LCK LCK proto-oncogene, Src family tyrosine kinase IAGP HPO MIM:615758 NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,244...32,286,165 		JBrowse link
G LIPA lipase A, lysosomal acid type IAGP HPO ORPHA:75233 NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557 		JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP HPO MIM:613177 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:342 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP HPO ORPHA:186 NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP HPO MIM:256810 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP HPO MIM:611719 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497 		JBrowse link
G MST1 macrophage stimulating 1 IAGP HPO ORPHA:171 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501 		JBrowse link
G MTO1 mitochondrial tRNA translation optimization 1 IAGP HPO MIM:614702 NCBI chr 6:73,461,737...73,509,236
Ensembl chr 6:73,461,578...73,509,236 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP HPO MIM:115197 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO MIM:256550 ORPHA:93400 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905 		JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO ORPHA:974 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 IAGP HPO MIM:617049 ORPHA:69665 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO MIM:259720 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP HPO MIM:616843 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:90308 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO ORPHA:53035 ORPHA:731 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G PLVAP plasmalemma vesicle associated protein IAGP HPO MIM:618183 NCBI chr19:17,351,455...17,377,342
Ensembl chr19:17,351,450...17,377,342 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:203700 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 IAGP HPO ORPHA:186 NCBI chr11:111,352,255...111,379,275
Ensembl chr11:111,352,255...111,455,630 		JBrowse link
G PRG4 proteoglycan 4 IAGP HPO ORPHA:2848 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP HPO MIM:261740 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:615 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PRKCSH PRKCSH beta subunit of glucosidase II IAGP HPO MIM:174050 NCBI chr19:11,435,635...11,450,968
Ensembl chr19:11,435,284...11,450,968 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP HPO ORPHA:974 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131 		JBrowse link
G RFX6 regulatory factor X6 IAGP HPO MIM:615710 NCBI chr 6:116,877,242...116,932,161
Ensembl chr 6:116,877,212...116,932,161 		JBrowse link
G RHBDF2 rhomboid 5 homolog 2 IAGP HPO ORPHA:2198 NCBI chr17:76,470,893...76,501,427
Ensembl chr17:76,470,891...76,501,790 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO MIM:619487 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO ORPHA:98850 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G SAT1 spermidine/spermine N1-acetyltransferase 1 IAGP HPO ORPHA:93552 NCBI chr  X:23,783,173...23,786,210
Ensembl chr  X:23,783,173...23,786,210 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO ORPHA:77259 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:620369 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SEMA4D semaphorin 4D IAGP HPO ORPHA:171 NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 IAGP HPO MIM:269920 NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,379...73,653,992 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO MIM:257200 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		JBrowse link
G SOX18 SRY-box transcription factor 18 IAGP HPO ORPHA:69735 NCBI chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639 		JBrowse link
G SP110 SP110 nuclear body protein IAGP HPO ORPHA:79124 NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729 		JBrowse link
G SPIB Spi-B transcription factor IAGP HPO ORPHA:186 NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314 		JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:93552 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP HPO ORPHA:98850 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:93552 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP HPO MIM:616897 NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:171 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:98850 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TFAM transcription factor A, mitochondrial IAGP HPO MIM:617156 NCBI chr10:58,385,410...58,399,220
Ensembl chr10:58,385,345...58,399,220 		JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 IAGP HPO MIM:620244 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:84081 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TNFSF15 TNF superfamily member 15 IAGP HPO ORPHA:186 NCBI chr 9:114,784,635...114,806,039
Ensembl chr 9:114,784,652...114,806,039 		JBrowse link
G TNPO3 transportin 3 IAGP HPO ORPHA:186 NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173 		JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO MIM:253250 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:1052 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO ORPHA:538 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO ORPHA:538 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO MIM:243800 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113 		JBrowse link
G USP18 ubiquitin specific peptidase 18 IAGP HPO MIM:617397 NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,149,843...18,177,397 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO MIM:614091 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:83469 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Cystocele term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain IAGP HPO MIM:130050 ORPHA:286 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO MIM:613795 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
Duplication of renal pelvis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:654 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP HPO ORPHA:654 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G GPC3 glypican 3 IAGP HPO MIM:312870 ORPHA:654 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO MIM:312870 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP HPO ORPHA:654 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552 		JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO ORPHA:2036 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401 		JBrowse link
G POU6F2 POU class 6 homeobox 2 IAGP HPO ORPHA:654 NCBI chr 7:38,977,909...39,468,601
Ensembl chr 7:38,977,909...39,493,095 		JBrowse link
G REST RE1 silencing transcription factor IAGP HPO ORPHA:654 NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808 		JBrowse link
G SLC6A17 solute carrier family 6 member 17 IAGP HPO ORPHA:457212 NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202 		JBrowse link
G TRIM28 tripartite motif containing 28 IAGP HPO ORPHA:654 NCBI chr19:58,544,064...58,550,715
Ensembl chr19:58,544,064...58,550,722 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:654 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:654 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
Fetal ascites term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP ClinVar Annotator: match by term: Fetal ascites ClinVar PMID:25741868 PMID:28492532 PMID:30177536 PMID:31680349 PMID:36634413 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G EIF5A eukaryotic translation initiation factor 5A IAGP HPO MIM:619376 NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP HPO MIM:261515 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G MDFIC MyoD family inhibitor domain containing IAGP HPO MIM:620014 NCBI chr 7:114,922,094...115,019,917
Ensembl chr 7:114,922,094...115,019,917 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP HPO MIM:257220 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 HPO MIM:607625 NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO MIM:215045 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G RHD Rh blood group D antigen IAGP HPO MIM:619462 NCBI chr 1:25,272,486...25,330,445
Ensembl chr 1:25,272,393...25,330,445 		JBrowse link
Fluctuating hepatomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MVK mevalonate kinase IAGP HPO MIM:610377 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
Fluctuating splenomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MVK mevalonate kinase IAGP HPO MIM:610377 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G TPP2 tripeptidyl peptidase 2 IAGP HPO MIM:619220 NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958 		JBrowse link
Hepatomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 IAGP HPO MIM:205400 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G ABCB11 ATP binding cassette subfamily B member 11 IAGP HPO MIM:601847 MIM:605479 NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO MIM:602347 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 IAGP DNA:missense mutation, deletions:cds:multiple (human) HPO
RGD		 PMID:9425227 ORPHA:234, RGD:150429696 NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594 		JBrowse link
G ABCC8 ATP binding cassette subfamily C member 8 IAGP HPO ORPHA:276575 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ABCD3 ATP binding cassette subfamily D member 3 IAGP HPO MIM:616278 NCBI chr 1:94,385,131...94,518,663
Ensembl chr 1:94,418,389...94,518,666 		JBrowse link
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase IAGP HPO MIM:275630 ORPHA:98907 NCBI chr 3:43,690,870...43,734,371
Ensembl chr 3:43,690,108...43,734,371 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain IAGP HPO MIM:201450 ORPHA:42 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain IAGP HPO MIM:201475 ORPHA:26793 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 IAGP HPO ORPHA:134 NCBI chr11:108,116,705...108,147,603
Ensembl chr11:108,116,695...108,148,957 		JBrowse link
G ACOX1 acyl-CoA oxidase 1 IAGP HPO MIM:264470 ORPHA:2971 NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177 		JBrowse link
G ADA adenosine deaminase IAGP HPO MIM:102700 ORPHA:39041 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO MIM:615688 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO MIM:231050 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 HPO MIM:615010 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ADRA2A adrenoceptor alpha 2A IAGP HPO MIM:620679 NCBI chr10:111,077,029...111,080,907
Ensembl chr10:111,077,029...111,080,907 		JBrowse link
G AGA aspartylglucosaminidase IAGP HPO MIM:208400 ORPHA:93 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437 		JBrowse link
G AGGF1 angiogenic factor with G-patch and FHA domains 1 IAGP HPO ORPHA:90308 NCBI chr 5:77,030,404...77,065,234
Ensembl chr 5:77,029,251...77,065,234 		JBrowse link
G AGL amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase IAGP HPO MIM:232400 NCBI chr 1:99,849,258...99,924,023
Ensembl chr 1:99,850,361...99,924,023 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP HPO MIM:608594 ORPHA:528 NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457 		JBrowse link
G AGR2 anterior gradient 2, protein disulphide isomerase family member IAGP HPO MIM:620233 NCBI chr 7:16,791,811...16,804,999
Ensembl chr 7:16,791,811...16,833,433 		JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 IAGP HPO MIM:235555 ORPHA:79303 NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 IAGP HPO ORPHA:79085 NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536 		JBrowse link
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 IAGP HPO MIM:620025 NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866 		JBrowse link
G ALDOA aldolase, fructose-bisphosphate A IAGP HPO MIM:611881 NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457 		JBrowse link
G ALDOB aldolase, fructose-bisphosphate B IAGP HPO MIM:229600 ORPHA:469 NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664 		JBrowse link
G ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase IAGP HPO MIM:608540 NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379 		JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO MIM:300884 NCBI chr  X:111,681,170...111,760,649
Ensembl chr  X:111,665,811...111,760,649 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO MIM:607906 ORPHA:79326 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP HPO MIM:608104 NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO MIM:608776 ORPHA:79328 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 HPO MIM:203800 ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G AMACR alpha-methylacyl-CoA racemase IAGP HPO MIM:214950 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104 		JBrowse link
G ANK1 ankyrin 1 IAGP HPO ORPHA:822 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP HPO MIM:230740 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP HPO MIM:608233 NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:77,991,640...78,294,762 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 IAGP HPO MIM:617050 NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468 		JBrowse link
G APOA1 apolipoprotein A1 IAGP HPO MIM:620657 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOC2 apolipoprotein C2 IAGP HPO MIM:207750 NCBI chr19:44,946,051...44,949,565
Ensembl chr19:44,946,035...44,949,565 		JBrowse link
G APOE apolipoprotein E IAGP HPO ORPHA:158029 ORPHA:412 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G ARG1 arginase 1 IAGP HPO MIM:207800 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332 		JBrowse link
G ARL13B ARF like GTPase 13B IAGP HPO MIM:612291 NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678 		JBrowse link
G ARPC5 actin related protein 2/3 complex subunit 5 IAGP HPO MIM:620565 NCBI chr 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783 		JBrowse link
G ARSB arylsulfatase B IAGP HPO MIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO MIM:228000 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ASL argininosuccinate lyase IAGP HPO MIM:207900 ORPHA:23 NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697 		JBrowse link
G ASS1 argininosuccinate synthase 1 IAGP HPO MIM:215700 NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98849 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP HPO MIM:618810 NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha IAGP HPO ORPHA:254913 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta IAGP HPO ORPHA:254913 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G ATP5F1E ATP synthase F1 subunit epsilon IAGP HPO ORPHA:254913 NCBI chr20:59,025,475...59,032,335
Ensembl chr20:59,025,475...59,032,345 		JBrowse link
G ATP5MK ATP synthase membrane subunit k IAGP HPO ORPHA:254913 NCBI chr10:103,389,050...103,396,475
Ensembl chr10:103,389,041...103,396,492 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 IAGP HPO MIM:300972 NCBI chr  X:154,428,677...154,436,516
Ensembl chr  X:154,428,633...154,436,516 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO MIM:301045 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:3473 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO MIM:277900 ORPHA:905 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 IAGP HPO MIM:211600 MIM:243300 NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315 		JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP HPO MIM:604273 ORPHA:254913 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:100075 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase IAGP HPO ORPHA:67046 NCBI chr 9:91,213,823...91,361,918
Ensembl chr 9:91,213,815...91,361,918 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 IAGP HPO ORPHA:79332 NCBI chr 9:33,104,077...33,185,089
Ensembl chr 9:33,100,493...33,167,336 		JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase IAGP HPO MIM:619232 NCBI chr 9:101,360,417...101,385,006
Ensembl chr 9:101,354,182...101,385,400 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP HPO ORPHA:50251 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO MIM:235200 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMP6 bone morphogenetic protein 6 IAGP HPO ORPHA:465508 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G BOLA3 bolA family member 3 IAGP HPO MIM:614299 NCBI chr 2:74,135,400...74,147,912
Ensembl chr 2:74,135,400...74,147,912 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:389 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO MIM:269700 MIM:615924 ORPHA:363400 ORPHA:528 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G BTD biotinidase IAGP HPO MIM:253260 NCBI chr 3:15,601,361...15,722,516
Ensembl chr 3:15,601,341...15,722,311 		JBrowse link
G BTNL2 butyrophilin like 2 IAGP HPO MIM:612387 ORPHA:797 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		JBrowse link
G C1QBP complement C1q binding protein IAGP HPO MIM:617713 NCBI chr17:5,432,777...5,439,155
Ensembl chr17:5,432,777...5,448,830 		JBrowse link
G C2orf69 chromosome 2 open reading frame 69 IAGP HPO MIM:619423 NCBI chr 2:199,911,293...199,928,273
Ensembl chr 2:199,911,293...199,955,935 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CALR calreticulin IAGP HPO MIM:254450 ORPHA:131 ORPHA:824 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G CASP10 caspase 10 IAGP HPO MIM:603909 ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CASR calcium sensing receptor IAGP HPO MIM:239200 ORPHA:417 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CAV1 caveolin 1 IAGP HPO MIM:612526 ORPHA:528 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 HPO MIM:613327 ORPHA:528 NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO ORPHA:648 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CBS cystathionine beta-synthase IAGP HPO ORPHA:394 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:1454 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CCDC115 coiled-coil domain containing 115 IAGP HPO MIM:616828 NCBI chr 2:130,337,933...130,342,681
Ensembl chr 2:130,337,933...130,342,699 		JBrowse link
G CCDC47 coiled-coil domain containing 47 IAGP HPO MIM:618268 NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351 		JBrowse link
G CD19 CD19 molecule IAGP HPO MIM:240500 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342 		JBrowse link
G CD27 CD27 molecule IAGP HPO MIM:615122 NCBI chr12:6,443,892...6,451,713
Ensembl chr12:6,444,955...6,451,718 		JBrowse link
G CD28 CD28 molecule IAGP HPO ORPHA:2584 ORPHA:3162 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756 		JBrowse link
G CD40LG CD40 ligand IAGP HPO MIM:308230 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CD55 CD55 molecule (Cromer blood group) IAGP HPO MIM:226300 NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804 		JBrowse link
G CD81 CD81 molecule IAGP HPO MIM:613496 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802 		JBrowse link
G CD96 CD96 molecule IAGP HPO MIM:211750 NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,996 		JBrowse link
G CDAN1 codanin 1 IAGP HPO MIM:224120 NCBI chr15:42,723,544...42,737,128
Ensembl chr15:42,723,544...42,737,128 		JBrowse link
G CDIN1 CDAN1 interacting nuclease 1 IAGP HPO MIM:615631 NCBI chr15:36,579,626...36,810,244
Ensembl chr15:36,579,626...36,810,248 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO MIM:130650 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO MIM:219700 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:39041 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CIDEC cell death inducing DFFA like effector c IAGP HPO MIM:615238 ORPHA:435651 NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO MIM:611490 MIM:618541 ORPHA:667 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G CLDN1 claudin 1 IAGP DNA:deletion, nonsense mutation:exon:200_201delTT(human) HPO
RGD		 PMID:15521008 MIM:607626 ORPHA:59303, RGD:11341732 NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446 		JBrowse link
G CNTNAP2 contactin associated protein 2 IAGP HPO ORPHA:163681 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		JBrowse link
G COA8 cytochrome c oxidase assembly factor 8 IAGP HPO ORPHA:436271 NCBI chr14:103,562,960...103,590,899
Ensembl chr14:103,562,960...103,607,523 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO MIM:613489 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COG5 component of oligomeric golgi complex 5 IAGP HPO ORPHA:263487 NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261 		JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP HPO MIM:614576 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,666 		JBrowse link
G COG7 component of oligomeric golgi complex 7 IAGP HPO MIM:608779 ORPHA:79333 NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189 		JBrowse link
G COX14 cytochrome c oxidase assembly factor COX14 IAGP HPO MIM:619053 NCBI chr12:50,112,236...50,120,453
Ensembl chr12:50,112,082...50,120,457 		JBrowse link
G COX4I2 cytochrome c oxidase subunit 4I2 IAGP DNA:mutation:cds:c.412G>A (p.E138K)(human) HPO
RGD		 PMID:19268275 MIM:612714, RGD:11344905 NCBI chr20:31,637,912...31,645,006
Ensembl chr20:31,637,912...31,645,006 		JBrowse link
G COX5A cytochrome c oxidase subunit 5A IAGP HPO MIM:619064 NCBI chr15:74,919,791...74,938,073
Ensembl chr15:74,919,791...74,938,083 		JBrowse link
G CPOX coproporphyrinogen oxidase IAGP HPO MIM:121300 MIM:618892 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A IAGP HPO MIM:255120 ORPHA:156 NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO MIM:600649 MIM:608836 ORPHA:228305 ORPHA:228308 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO MIM:240500 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO MIM:616100 ORPHA:2584 ORPHA:3162 ORPHA:436159 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:33402 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 HPO MIM:219800 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CYBA cytochrome b-245 alpha chain IAGP HPO MIM:233690 ORPHA:379 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083 		JBrowse link
G CYBB cytochrome b-245 beta chain IAGP HPO MIM:306400 ORPHA:379 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461 		JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO ORPHA:379 NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO ORPHA:289157 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP HPO ORPHA:289157 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP HPO MIM:613812 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G DCDC2 doublecortin domain containing 2 IAGP HPO MIM:616217 MIM:617394 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059 		JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP HPO MIM:602450 MIM:603554 ORPHA:39041 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP HPO MIM:602557 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685 		JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor IAGP HPO MIM:619573 NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771 		JBrowse link
G DGUOK deoxyguanosine kinase IAGP HPO MIM:251880 MIM:617068 NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO MIM:270400 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DHDDS dehydrodolichyl diphosphate synthase subunit IAGP HPO MIM:613861 NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306 		JBrowse link
G DHFR dihydrofolate reductase IAGP HPO MIM:613839 NCBI chr 5:80,626,226...80,654,983
Ensembl chr 5:80,626,226...80,654,983 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP HPO ORPHA:2849 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO ORPHA:1775 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DLD dihydrolipoamide dehydrogenase IAGP HPO MIM:246900 ORPHA:2394 NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO MIM:260400 ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G DNASE1L3 deoxyribonuclease 1L3 IAGP HPO ORPHA:36412 NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697 		JBrowse link
G DOCK11 dedicator of cytokinesis 11 IAGP HPO MIM:301109 NCBI chr  X:118,495,815...118,686,147
Ensembl chr  X:118,495,815...118,686,163 		JBrowse link
G DOCK2 dedicator of cytokinesis 2 IAGP HPO MIM:616433 NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO ORPHA:86309 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO MIM:608799 ORPHA:79322 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP HPO ORPHA:329178 NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO MIM:616331 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO MIM:617088 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:614924 NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO MIM:617941 ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO MIM:226980 ORPHA:1667 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 IAGP HPO ORPHA:822 NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP HPO MIM:133180 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:90322 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:90321 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:133540 ORPHA:90321 ORPHA:90322 ORPHA:90324 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO MIM:216400 ORPHA:90321 ORPHA:90322 ORPHA:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G ETFA electron transfer flavoprotein subunit alpha IAGP HPO MIM:231680 NCBI chr15:76,215,353...76,311,469
Ensembl chr15:76,188,555...76,311,730 		JBrowse link
G ETFB electron transfer flavoprotein subunit beta IAGP HPO MIM:231680 NCBI chr19:51,345,155...51,366,388
Ensembl chr19:51,345,169...51,366,388 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase IAGP HPO MIM:231680 NCBI chr 4:158,672,296...158,709,623
Ensembl chr 4:158,671,968...158,710,742 		JBrowse link
G EWSR1 EWS RNA binding protein 1 IAGP HPO ORPHA:83469 NCBI chr22:29,268,268...29,300,521
Ensembl chr22:29,268,009...29,300,525 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO ORPHA:508533 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G F5 coagulation factor V IAGP HPO ORPHA:131 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G FAH fumarylacetoacetate hydrolase IAGP HPO MIM:276700 ORPHA:882 NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946 		JBrowse link
G FAM111B FAM111 trypsin like peptidase B IAGP HPO MIM:615704 NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO MIM:601859 ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP HPO MIM:601859 ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:614185 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBP1 fructose-bisphosphatase 1 IAGP HPO MIM:229700 ORPHA:348 NCBI chr 9:94,603,133...94,640,263
Ensembl chr 9:94,603,133...94,640,249 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 IAGP HPO MIM:615471 NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO MIM:219700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FDX2 ferredoxin 2 IAGP HPO MIM:251900 NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,309,916...10,316,015 		JBrowse link
G FERMT3 FERM domain containing kindlin 3 IAGP HPO MIM:612840 NCBI chr11:64,205,920...64,223,891
Ensembl chr11:64,205,926...64,223,896 		JBrowse link
G FGA fibrinogen alpha chain IAGP HPO MIM:105200 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742 		JBrowse link
G FLNC filamin C IAGP HPO ORPHA:75249 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G FOCAD focadhesin IAGP HPO MIM:619991 NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit IAGP HPO ORPHA:528 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 IAGP HPO ORPHA:2609 NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,131 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO MIM:230000 ORPHA:349 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 IAGP DNA:SNP:exon:727G>T HPO
RGD		 PMID:11851840 MIM:232200, RGD:14695549 NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438 		JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP HPO MIM:612541 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151 		JBrowse link
G GAA alpha glucosidase IAGP HPO MIM:232300 ORPHA:308552 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881 		JBrowse link
G GALE UDP-galactose-4-epimerase IAGP HPO MIM:230350 MIM:620776 NCBI chr 1:23,795,599...23,800,754
Ensembl chr 1:23,795,599...23,800,781 		JBrowse link
G GALK1 galactokinase 1 IAGP HPO ORPHA:79237 NCBI chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236 		JBrowse link
G GALM galactose mutarotase IAGP HPO MIM:618881 ORPHA:570422 NCBI chr 2:38,666,114...38,734,765
Ensembl chr 2:38,666,081...38,741,237 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO MIM:253000 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP HPO MIM:230400 ORPHA:79239 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
G GATA2 GATA binding protein 2 IAGP HPO ORPHA:228423 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:230800 MIM:230900 MIM:231000 MIM:231005 MIM:608013 ORPHA:77259 ORPHA:77260 ORPHA:77261 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO MIM:231670 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G GFM1 G elongation factor mitochondrial 1 IAGP HPO MIM:609060 NCBI chr 3:158,644,527...158,695,581
Ensembl chr 3:158,644,527...158,695,581 		JBrowse link
G GIMAP5 GTPase, IMAP family member 5 IAGP HPO MIM:619463 NCBI chr 7:150,737,418...150,743,646
Ensembl chr 7:150,722,253...150,750,033 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO MIM:230500 MIM:230600 MIM:230650 MIM:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GLIS3 GLIS family zinc finger 3 IAGP HPO MIM:610199 NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392 		JBrowse link
G GLRX5 glutaredoxin 5 IAGP HPO MIM:616860 NCBI chr14:95,535,050...95,544,714
Ensembl chr14:95,533,503...95,544,724 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO MIM:269921 ORPHA:3166 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GNMT glycine N-methyltransferase IAGP HPO MIM:606664 NCBI chr 6:42,960,754...42,963,880
Ensembl chr 6:42,960,754...42,963,880 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO MIM:252500 MIM:252600 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO MIM:252940 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G GPC3 glypican 3 IAGP HPO MIM:312870 ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO MIM:312870 ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G GPD1 glycerol-3-phosphate dehydrogenase 1 IAGP HPO MIM:614480 NCBI chr12:50,104,008...50,111,313
Ensembl chr12:50,103,982...50,111,313 		JBrowse link
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 IAGP HPO MIM:615947 NCBI chr 8:143,213,218...143,217,170
Ensembl chr 8:143,213,218...143,217,170 		JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP HPO ORPHA:171 NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal IAGP HPO MIM:204000 NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342 		JBrowse link
G GUSB glucuronidase beta IAGP HPO MIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP HPO MIM:130650 NCBI chr11:1,998,202...2,003,509 JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IAGP HPO MIM:609016 ORPHA:5 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672 		JBrowse link
G HAMP hepcidin antimicrobial peptide IAGP HPO MIM:613313 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HBA1 hemoglobin subunit alpha 1 IAGP HPO MIM:613978 ORPHA:163596 NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522 		JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP HPO MIM:613978 ORPHA:163596 NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO MIM:603902 MIM:603903 ORPHA:231214 ORPHA:231222 ORPHA:46532 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HBG1 hemoglobin subunit gamma 1 IAGP HPO ORPHA:46532 NCBI chr11:5,248,269...5,249,857
Ensembl chr11:5,248,269...5,249,857 		JBrowse link
G HBG2 hemoglobin subunit gamma 2 IAGP HPO MIM:613977 ORPHA:46532 NCBI chr11:5,253,188...5,254,781
Ensembl chr11:5,253,188...5,505,605 		JBrowse link
G HCK HCK proto-oncogene, Src family tyrosine kinase IAGP HPO MIM:620296 NCBI chr20:32,052,242...32,101,856
Ensembl chr20:32,052,197...32,101,856 		JBrowse link
G HEXB hexosaminidase subunit beta IAGP HPO MIM:268800 NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO MIM:235200 ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO MIM:252930 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G HJV hemojuvelin BMP co-receptor IAGP HPO MIM:602390 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO MIM:181000 ORPHA:797 ORPHA:85414 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HMBS hydroxymethylbilane synthase IAGP HPO MIM:620704 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP HPO MIM:246450 ORPHA:20 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 IAGP HPO MIM:605911 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905 		JBrowse link
G HMOX1 heme oxygenase 1 IAGP HPO MIM:614034 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G HNF1A HNF1 homeobox A IAGP HPO ORPHA:324575 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP HPO MIM:616026 ORPHA:263455 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO ORPHA:2796 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP HPO MIM:261515 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 IAGP HPO MIM:607765 ORPHA:79301 NCBI chr16:30,985,207...30,989,147
Ensembl chr16:30,985,207...30,989,147 		JBrowse link
G HYMAI hydatidiform mole associated and imprinted IAGP HPO ORPHA:96191 NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262 		JBrowse link
G HYOU1 hypoxia up-regulated 1 IAGP HPO MIM:233600 NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227 		JBrowse link
G ICOS inducible T cell costimulator IAGP HPO MIM:240500 MIM:607594 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO MIM:309900 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO MIM:607014 MIM:607015 ORPHA:93473 ORPHA:93474 ORPHA:93476 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO MIM:615846 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO MIM:218330 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO MIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO MIM:615630 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO MIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO MIM:130650 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IL12A interleukin 12A IAGP HPO ORPHA:186 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019 		JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 IAGP HPO ORPHA:186 NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944 		JBrowse link
G IL18BP interleukin 18 binding protein IAGP HPO MIM:618549 NCBI chr11:71,998,909...72,008,200
Ensembl chr11:71,998,613...72,007,315 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP HPO MIM:612852 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO MIM:618495 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO MIM:300400 ORPHA:276 ORPHA:39041 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108 		JBrowse link
G IL6 interleukin 6 IAGP HPO ORPHA:85414 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL7R interleukin 7 receptor IAGP HPO MIM:608971 ORPHA:39041 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO ORPHA:1454 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO ORPHA:2746 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147 		JBrowse link
G INSR insulin receptor IAGP HPO MIM:246200 ORPHA:508 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G IRF1 interferon regulatory factor 1 IAGP HPO MIM:620668 NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719 		JBrowse link
G IRF4 interferon regulatory factor 4 IAGP HPO ORPHA:3452 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:186 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G IRF8 interferon regulatory factor 8 IAGP HPO MIM:226990 NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606 		JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO MIM:613385 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773 		JBrowse link
G ITK IL2 inducible T cell kinase IAGP HPO MIM:613011 NCBI chr 5:157,180,840...157,255,185
Ensembl chr 5:157,142,933...157,255,185 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO MIM:254450 ORPHA:131 ORPHA:729 ORPHA:824 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G JAM2 junctional adhesion molecule 2 IAGP HPO ORPHA:1980 NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562 		JBrowse link
G JAM3 junctional adhesion molecule 3 IAGP HPO MIM:613730 NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,069,071...134,152,001 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO MIM:135500 ORPHA:3473 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:276580 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP HPO ORPHA:3473 NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP HPO MIM:616689 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO MIM:130650 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP HPO MIM:130650 NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003 		JBrowse link
G KIF12 kinesin family member 12 IAGP HPO MIM:619662 NCBI chr 9:114,091,638...114,099,292
Ensembl chr 9:114,086,126...114,099,292 		JBrowse link
G KIF20A kinesin family member 20A IAGP HPO MIM:619433 ORPHA:75249 NCBI chr 5:138,179,112...138,187,723
Ensembl chr 5:138,178,719...138,187,723 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:98849 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G KLF1 KLF transcription factor 1 IAGP HPO MIM:613673 ORPHA:46532 NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G KPTN kaptin, actin binding protein IAGP HPO MIM:615637 NCBI chr19:47,475,150...47,485,839
Ensembl chr19:47,475,150...47,484,265 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO MIM:614470 ORPHA:648 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LACC1 laccase domain containing 1 IAGP HPO ORPHA:85414 NCBI chr13:43,879,178...43,893,932
Ensembl chr13:43,879,284...43,893,932 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP HPO MIM:620076 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G LARS1 leucyl-tRNA synthetase 1 IAGP HPO MIM:615438 NCBI chr 5:146,113,034...146,182,650
Ensembl chr 5:146,110,566...146,182,696 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:215140 MIM:613471 ORPHA:779 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LCAT lecithin-cholesterol acyltransferase IAGP HPO ORPHA:79292 NCBI chr16:67,939,750...67,944,120
Ensembl chr16:67,939,750...67,944,131 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:39041 ORPHA:99812 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LIPA lipase A, lysosomal acid type IAGP HPO MIM:278000 MIM:620151 ORPHA:75233 ORPHA:75234 NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557 		JBrowse link
G LIPE lipase E, hormone sensitive type IAGP HPO ORPHA:435660 NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,497...42,427,388 		JBrowse link
G LMBRD1 LMBR1 domain containing 1 IAGP HPO MIM:277380 NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:151660 MIM:248370 ORPHA:2348 ORPHA:280365 ORPHA:79084 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LPIN2 lipin 2 IAGP HPO ORPHA:77297 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO ORPHA:2924 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO MIM:617809 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G LYN LYN proto-oncogene, Src family tyrosine kinase IAGP HPO MIM:620376 NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169 		JBrowse link
G LYRM4 LYR motif containing 4 IAGP HPO MIM:615595 NCBI chr 6:5,031,753...5,260,950
Ensembl chr 6:5,103,629...5,260,950 		JBrowse link
G LYST lysosomal trafficking regulator IAGP HPO MIM:214500 NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO ORPHA:648 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MADD MAP kinase activating death domain IAGP HPO MIM:619004 MIM:619005 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G MAGT1 magnesium transporter 1 IAGP HPO MIM:301031 NCBI chr  X:77,825,747...77,895,568
Ensembl chr  X:77,825,747...77,899,271 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO MIM:248500 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,742 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO ORPHA:389 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 IAGP HPO MIM:618443 NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP HPO MIM:615486 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569 		JBrowse link
G MCM4 minichromosome maintenance complex component 4 IAGP HPO MIM:609981 NCBI chr 8:47,960,941...47,978,160
Ensembl chr 8:47,960,185...47,978,160 		JBrowse link
G MCTS1 MCTS1 re-initiation and release factor IAGP HPO MIM:301115 NCBI chr  X:120,604,101...120,621,159
Ensembl chr  X:120,594,010...120,621,159 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:301068 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO MIM:249100 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:33402 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO ORPHA:2398 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MICU1 mitochondrial calcium uptake 1 IAGP HPO MIM:615673 NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131 		JBrowse link
G MIF macrophage migration inhibitory factor IAGP HPO ORPHA:85414 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
G MMAA metabolism of cobalamin associated A IAGP HPO MIM:251100 NCBI chr 4:145,619,385...145,660,033
Ensembl chr 4:145,599,042...145,660,033 		JBrowse link
G MMAB metabolism of cobalamin associated B IAGP HPO MIM:251110 NCBI chr12:109,553,715...109,573,504
Ensembl chr12:109,553,715...109,573,580 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO MIM:277400 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP HPO ORPHA:186 NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016 		JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP HPO MIM:251000 ORPHA:289916 ORPHA:79312 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253 		JBrowse link
G MOGS mannosyl-oligosaccharide glucosidase IAGP HPO MIM:606056 ORPHA:79330 NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410 		JBrowse link
G MPC1 mitochondrial pyruvate carrier 1 IAGP HPO MIM:614741 NCBI chr 6:166,364,919...166,382,940
Ensembl chr 6:166,364,919...166,383,013 		JBrowse link
G MPI mannose phosphate isomerase IAGP HPO MIM:602579 ORPHA:79319 NCBI chr15:74,890,042...74,902,219
Ensembl chr15:74,890,005...74,902,219 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO MIM:254450 ORPHA:824 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP HPO MIM:256810 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G MRAS muscle RAS oncogene homolog IAGP HPO ORPHA:648 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534 		JBrowse link
G MRPL3 mitochondrial ribosomal protein L3 IAGP HPO MIM:614582 NCBI chr 3:131,462,212...131,502,971
Ensembl chr 3:131,462,212...131,502,983 		JBrowse link
G MRPS28 mitochondrial ribosomal protein S28 IAGP HPO MIM:618958 NCBI chr 8:79,918,717...80,030,259
Ensembl chr 8:79,918,717...80,030,289 		JBrowse link
G MRPS7 mitochondrial ribosomal protein S7 IAGP HPO MIM:617872 NCBI chr17:75,261,879...75,266,376
Ensembl chr17:75,261,674...75,266,376 		JBrowse link
G MST1 macrophage stimulating 1 IAGP HPO ORPHA:171 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:254913 ORPHA:255210 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP HPO ORPHA:254913 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP HPO ORPHA:137675 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:255210 ORPHA:2609 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 HPO ORPHA:255210 ORPHA:2609 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 HPO ORPHA:255210 ORPHA:2609 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 HPO ORPHA:255210 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 HPO ORPHA:255210 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 HPO ORPHA:255210 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP HPO ORPHA:254864 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP HPO ORPHA:255210 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 HPO ORPHA:255210 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP HPO MIM:220110 NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO MIM:220110 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TV mitochondrially encoded tRNA-Val (GUN) IAGP HPO ORPHA:255210 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 HPO ORPHA:255210 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MTTP microsomal triglyceride transfer protein IAGP HPO ORPHA:14 NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997 		JBrowse link
G MTX2 metaxin 2 IAGP HPO MIM:619127 NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025 		JBrowse link
G MVK mevalonate kinase IAGP HPO ORPHA:343 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP HPO MIM:115197 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP HPO ORPHA:33226 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO MIM:619424 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G MYO5B myosin VB IAGP HPO MIM:619868 NCBI chr18:49,822,789...50,195,147
Ensembl chr18:49,822,789...50,195,164 		JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Hepatomegaly ClinVar PMID:25741868 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G MYORG myogenesis regulating glycosidase IAGP HPO ORPHA:1980 NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898 		JBrowse link
G MYPN myopalladin IAGP HPO ORPHA:75249 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 IAGP HPO MIM:620210 NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,875...66,873,256 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP HPO ORPHA:79279 ORPHA:79281 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase IAGP HPO MIM:252920 NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449 		JBrowse link
G NAGS N-acetylglutamate synthase IAGP HPO ORPHA:927 NCBI chr17:44,004,622...44,009,068
Ensembl chr17:44,004,622...44,009,068 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO MIM:233700 ORPHA:379 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NCF2 neutrophil cytosolic factor 2 IAGP HPO MIM:233710 ORPHA:379 NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 IAGP HPO ORPHA:379 NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017 		JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 IAGP HPO ORPHA:2609 NCBI chr  X:119,871,832...119,876,662
Ensembl chr  X:119,871,832...119,876,662 		JBrowse link
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 IAGP HPO ORPHA:2609 NCBI chr19:5,891,229...5,903,790
Ensembl chr19:5,891,207...5,904,006 		JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 IAGP HPO MIM:618235 NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771 		JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 IAGP HPO ORPHA:2609 NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884 		JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 IAGP HPO MIM:618234 ORPHA:2609 NCBI chr15:41,387,353...41,403,026
Ensembl chr15:41,387,218...41,409,403 		JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 IAGP HPO ORPHA:2609 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 HPO ORPHA:2609 NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495 		JBrowse link
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 IAGP HPO ORPHA:2609 NCBI chr 6:96,889,315...96,897,891
Ensembl chr 6:96,889,315...96,897,891 		JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 IAGP HPO ORPHA:2609 NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580 		JBrowse link
G NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 IAGP HPO ORPHA:2609 NCBI chr17:81,239,311...81,241,310
Ensembl chr17:81,239,305...81,241,310 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 IAGP HPO ORPHA:2609 NCBI chr16:1,959,538...1,961,975
Ensembl chr16:1,959,538...1,961,975 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2609 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 IAGP HPO ORPHA:2609 NCBI chr 2:201,072,001...201,085,750
Ensembl chr 2:201,071,433...201,085,750 		JBrowse link
G NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 IAGP HPO ORPHA:2609 NCBI chr 8:124,539,123...124,549,979
Ensembl chr 8:124,539,101...124,580,648 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP HPO MIM:618226 ORPHA:2609 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 HPO ORPHA:2609 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 HPO ORPHA:2609 NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,562 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO MIM:252010 ORPHA:2609 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 IAGP HPO ORPHA:2609 NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048 		JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 IAGP HPO MIM:618224 ORPHA:2609 NCBI chr19:1,383,907...1,395,584
Ensembl chr19:1,383,527...1,395,589 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 IAGP HPO ORPHA:2609 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 IAGP HPO ORPHA:2609 NCBI chr11:67,606,936...67,612,554
Ensembl chr11:67,605,653...67,612,554 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 IAGP HPO ORPHA:2609 NCBI chr18:9,102,699...9,134,341
Ensembl chr18:9,102,630...9,134,345 		JBrowse link
G NEK8 NIMA related kinase 8 IAGP HPO MIM:615415 NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO MIM:256550 ORPHA:93399 ORPHA:93400 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905 		JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP HPO MIM:612132 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO MIM:615273 ORPHA:404454 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G NHLRC2 NHL repeat containing 2 IAGP HPO MIM:618278 NCBI chr10:113,854,661...113,917,194
Ensembl chr10:113,854,661...113,917,194 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894 		JBrowse link
G NLRP1 NLR family pyrin domain containing 1 IAGP HPO MIM:617388 NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO ORPHA:1451 ORPHA:575 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO ORPHA:955 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP HPO MIM:257220 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 HPO MIM:607625 NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177 		JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO MIM:208540 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:614470 ORPHA:389 ORPHA:648 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP ClinVar Annotator: match by term: Hepatomegaly HPO
ClinVar		 PMID:25741868 MIM:619695 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial IAGP HPO ORPHA:2609 NCBI chr14:31,561,404...31,861,224
Ensembl chr14:31,489,956...31,861,224 		JBrowse link
G OCLN occludin IAGP HPO MIM:251290 NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO MIM:259720 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP HPO MIM:301056 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
G PC pyruvate carboxylase IAGP HPO MIM:266150 NCBI chr11:66,848,420...66,958,383
Ensembl chr11:66,848,417...66,958,386 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha IAGP HPO MIM:606054 ORPHA:35 NCBI chr13:100,089,093...100,530,435
Ensembl chr13:100,089,015...100,530,437 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta IAGP HPO MIM:606054 ORPHA:35 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 IAGP HPO MIM:261680 NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:1980 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO MIM:607685 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO ORPHA:1980 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PEPD peptidase D IAGP HPO MIM:170100 ORPHA:742 NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO MIM:214100 MIM:601539 ORPHA:772 ORPHA:912 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO MIM:614870 ORPHA:772 ORPHA:912 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PEX11B peroxisomal biogenesis factor 11 beta IAGP HPO ORPHA:772 ORPHA:912 NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717 		JBrowse link
G PEX12 peroxisomal biogenesis factor 12 IAGP HPO MIM:266510 MIM:614859 ORPHA:772 ORPHA:912 NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863 		JBrowse link
G PEX13 peroxisomal biogenesis factor 13 IAGP HPO ORPHA:772 ORPHA:912 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 IAGP HPO MIM:614887 ORPHA:772 ORPHA:912 NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO MIM:614876 ORPHA:772 ORPHA:912 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812 		JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO ORPHA:772 ORPHA:912 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO MIM:614866 ORPHA:772 ORPHA:912 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP HPO MIM:614872 ORPHA:772 ORPHA:912 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396 		JBrowse link
G PEX3 peroxisomal biogenesis factor 3 IAGP HPO MIM:614882 ORPHA:772 ORPHA:912 NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO MIM:214110 ORPHA:772 ORPHA:912 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO MIM:614862 MIM:614863 ORPHA:772 ORPHA:912 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PGM1 phosphoglucomutase 1 IAGP HPO MIM:614921 NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 IAGP associated with glycogen storage disease IXa;DNA:mutations:multiple
associated with glycogen storage disease IXa;DNA:missense mutations:multiple		 HPO
RGD		 PMID:28283841 PMID:8733134 PMID:28627441 MIM:306000 ORPHA:264580, RGD:26884353, RGD:26884354, RGD:26884355 NCBI chr  X:18,892,298...18,984,114
Ensembl chr  X:18,892,298...18,984,114 		JBrowse link
G PHKB phosphorylase kinase regulatory subunit beta IAGP HPO MIM:261750 ORPHA:79240 NCBI chr16:47,461,299...47,701,523
Ensembl chr16:47,461,123...47,701,523 		JBrowse link
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 IAGP HPO MIM:613027 ORPHA:264580 NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP HPO MIM:194380 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 MIM:301072 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO MIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PIGM phosphatidylinositol glycan anchor biosynthesis class M IAGP HPO MIM:610293 NCBI chr 1:160,024,953...160,031,990
Ensembl chr 1:160,024,953...160,031,990 		JBrowse link
G PIGS phosphatidylinositol glycan anchor biosynthesis class S IAGP HPO MIM:618143 NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO MIM:618440 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:90308 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO ORPHA:397596 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:397596 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel IAGP HPO MIM:613095 NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO MIM:263200 ORPHA:53035 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G PKLR pyruvate kinase L/R IAGP HPO MIM:266200 NCBI chr 1:155,289,293...155,308,654
Ensembl chr 1:155,289,293...155,301,438 		JBrowse link
G PLAAT3 phospholipase A and acyltransferase 3 IAGP HPO MIM:620683 NCBI chr11:63,574,462...63,616,927
Ensembl chr11:63,573,195...63,616,883 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP HPO ORPHA:96191 NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599 		JBrowse link
G PLEKHM1 pleckstrin homology and RUN domain containing M1 IAGP HPO MIM:618107 NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO MIM:212065 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO MIM:610717 ORPHA:565612 ORPHA:98908 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO MIM:615381 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:203700 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 HPO MIM:618528 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 IAGP HPO ORPHA:186 NCBI chr11:111,352,255...111,379,275
Ensembl chr11:111,352,255...111,455,630 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO ORPHA:528 ORPHA:79083 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PPP1R21 protein phosphatase 1 regulatory subunit 21 IAGP HPO MIM:619383 NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391 		JBrowse link
G PRDX1 peroxiredoxin 1 IAGP HPO MIM:277400 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732 		JBrowse link
G PRF1 perforin 1 IAGP HPO MIM:603553 ORPHA:540 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 HPO MIM:615559 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PRKCSH PRKCSH beta subunit of glucosidase II IAGP HPO ORPHA:2924 NCBI chr19:11,435,635...11,450,968
Ensembl chr19:11,435,284...11,450,968 		JBrowse link
G PSAP prosaposin IAGP HPO MIM:610539 MIM:611721 ORPHA:139406 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G PSMB10 proteasome 20S subunit beta 10 IAGP HPO MIM:619175 MIM:620807 NCBI chr16:67,934,506...67,936,850
Ensembl chr16:67,934,506...67,936,864 		JBrowse link
G PSMB4 proteasome 20S subunit beta 4 IAGP HPO MIM:617591 NCBI chr 1:151,399,573...151,401,937
Ensembl chr 1:151,399,560...151,401,937 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO MIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G PSMG2 proteasome assembly chaperone 2 IAGP HPO MIM:619183 NCBI chr18:12,658,738...12,725,740
Ensembl chr18:12,658,043...12,728,945 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO MIM:601979 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO MIM:605309 ORPHA:397596 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO ORPHA:648 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP HPO MIM:616263 ORPHA:456312 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626 		JBrowse link
G PUS7 pseudouridine synthase 7 IAGP HPO MIM:618342 NCBI chr 7:105,456,501...105,522,271
Ensembl chr 7:105,439,661...105,522,271 		JBrowse link
G PYGL glycogen phosphorylase L IAGP associated with glycogen storage disease VI;DNA:mutation:multiple
DNA:SNPs,insertions,deletions:exons,introns:multiple		 HPO
RGD		 PMID:17705025 PMID:21646031 MIM:232700 ORPHA:369, RGD:11071447, RGD:21079734 NCBI chr14:50,905,217...50,944,483
Ensembl chr14:50,857,891...50,944,483 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family IAGP HPO ORPHA:79477 NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:648 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RAG1 recombination activating 1 IAGP HPO MIM:603554 ORPHA:331206 ORPHA:39041 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156 		JBrowse link
G RAG2 recombination activating 2 IAGP HPO MIM:603554 ORPHA:331206 ORPHA:39041 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279 		JBrowse link
G RASA2 RAS p21 protein activator 2 IAGP HPO ORPHA:648 NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344 		JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 IAGP HPO MIM:615895 NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139 		JBrowse link
G REL REL proto-oncogene, NF-kB subunit IAGP HPO MIM:619652 NCBI chr 2:60,881,574...60,931,612
Ensembl chr 2:60,881,491...60,931,612 		JBrowse link
G RFT1 RFT1 homolog IAGP HPO MIM:612015 ORPHA:244310 NCBI chr 3:53,066,853...53,130,435
Ensembl chr 3:53,066,853...53,130,453 		JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP HPO MIM:620815 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 HPO MIM:620817 NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104 		JBrowse link
G RHAG Rh associated glycoprotein IAGP HPO MIM:185000 NCBI chr 6:49,605,175...49,636,839
Ensembl chr 6:49,605,175...49,636,839 		JBrowse link
G RHBDF2 rhomboid 5 homolog 2 IAGP HPO ORPHA:2198 NCBI chr17:76,470,893...76,501,427
Ensembl chr17:76,470,891...76,501,790 		JBrowse link
G RHD Rh blood group D antigen IAGP HPO MIM:619462 NCBI chr 1:25,272,486...25,330,445
Ensembl chr 1:25,272,393...25,330,445 		JBrowse link
G RINT1 RAD50 interactor 1 IAGP HPO MIM:618641 NCBI chr 7:105,532,201...105,567,677
Ensembl chr 7:105,532,169...105,567,677 		JBrowse link
G RIPK1 receptor interacting serine/threonine kinase 1 IAGP HPO MIM:618852 NCBI chr 6:3,063,967...3,115,187
Ensembl chr 6:3,063,824...3,115,187 		JBrowse link
G RIT1 Ras like without CAAX 1 IAGP HPO ORPHA:648 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404 		JBrowse link
G RMND1 required for meiotic nuclear division 1 homolog IAGP HPO MIM:614922 NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:175 ORPHA:39041 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO MIM:610333 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:616651 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO MIM:619487 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G RORC RAR related orphan receptor C IAGP HPO MIM:616622 NCBI chr 1:151,806,071...151,831,802
Ensembl chr 1:151,806,071...151,831,845 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO ORPHA:1454 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RRAS RAS related IAGP HPO ORPHA:648 NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143 		JBrowse link
G RRAS2 RAS related 2 IAGP HPO ORPHA:648 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:1775 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G SAA1 serum amyloid A1 IAGP HPO ORPHA:85445 NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977 		JBrowse link
G SASH3 SAM and SH3 domain containing 3 IAGP HPO MIM:301082 NCBI chr  X:129,779,949...129,795,201
Ensembl chr  X:129,779,949...129,795,201 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO MIM:260400 ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SC5D sterol-C5-desaturase IAGP HPO ORPHA:46059 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO ORPHA:77259 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:620369 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SCO1 synthesis of cytochrome C oxidase 1 IAGP HPO MIM:619048 NCBI chr17:10,672,474...10,697,533
Ensembl chr17:10,672,474...10,698,375 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO MIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SCYL1 SCY1 like pseudokinase 1 IAGP HPO MIM:616719 NCBI chr11:65,525,083...65,538,704
Ensembl chr11:65,525,077...65,538,704 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO MIM:619167 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEC63 SEC63 homolog, protein translocation regulator IAGP HPO MIM:617004 ORPHA:2924 NCBI chr 6:107,867,756...107,958,208
Ensembl chr 6:107,867,756...107,958,208 		JBrowse link
G SEMA4D semaphorin 4D IAGP HPO ORPHA:171 NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130 		JBrowse link
G SEMA7A semaphorin 7A (JohnMiltonHagen blood group) IAGP HPO MIM:619874 NCBI chr15:74,409,289...74,433,958
Ensembl chr15:74,409,289...74,433,958 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP HPO ORPHA:60 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP HPO ORPHA:75564 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079 		JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase IAGP HPO MIM:252900 NCBI chr17:80,200,673...80,220,333
Ensembl chr17:80,206,716...80,220,923 		JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP HPO MIM:254450 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623 		JBrowse link
G SH2D1A SH2 domain containing 1A IAGP HPO MIM:308240 NCBI chr  X:124,346,563...124,373,160
Ensembl chr  X:124,227,868...124,373,197 		JBrowse link
G SHARPIN SHANK associated RH domain interactor IAGP HPO MIM:620795 NCBI chr 8:144,098,637...144,103,773
Ensembl chr 8:144,098,633...144,108,124 		JBrowse link
G SKIC2 SKI2 subunit of superkiller complex IAGP HPO MIM:614602 ORPHA:84064 NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818 		JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP HPO MIM:222470 ORPHA:84064 NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 IAGP HPO MIM:269920 NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,379...73,653,992 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 IAGP HPO MIM:620603 NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP HPO ORPHA:1980 NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 IAGP HPO MIM:212140 ORPHA:158 NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO MIM:615182 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G SLC25A13 solute carrier family 25 member 13 IAGP HPO ORPHA:247585 ORPHA:247598 NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 IAGP HPO MIM:238970 ORPHA:415 NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460 		JBrowse link
G SLC25A19 solute carrier family 25 member 19 IAGP HPO MIM:607196 ORPHA:99742 NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510 		JBrowse link
G SLC25A20 solute carrier family 25 member 20 IAGP HPO MIM:212138 ORPHA:159 NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO MIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP HPO MIM:608885 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP HPO MIM:227810 ORPHA:2088 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP HPO MIM:613280 ORPHA:309854 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018 		JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP HPO ORPHA:60025 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748 		JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP HPO ORPHA:99843 NCBI chr11:45,804,079...45,813,016
Ensembl chr11:45,804,072...45,813,016 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP ClinVar Annotator: match by term: Hepatomegaly HPO
ClinVar		 PMID:10923042 PMID:12444104 PMID:15669677 PMID:17994282 PMID:25741868 More... MIM:232220 MIM:232240 MIM:619525 ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SLC38A3 solute carrier family 38 member 3 IAGP HPO MIM:619881 NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486 		JBrowse link
G SLC39A4 solute carrier family 39 member 4 IAGP HPO MIM:201100 NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 IAGP HPO MIM:606069 NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP HPO ORPHA:822 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP HPO MIM:222700 ORPHA:470 NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820 		JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO ORPHA:2796 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO MIM:257200 MIM:607616 ORPHA:77293 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		JBrowse link
G SNX10 sorting nexin 10 IAGP HPO MIM:615085 ORPHA:667 NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383 		JBrowse link
G SNX14 sorting nexin 14 IAGP HPO MIM:616354 NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 IAGP HPO MIM:619375 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP HPO ORPHA:648 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP HPO ORPHA:648 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:163746 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SP110 SP110 nuclear body protein IAGP HPO ORPHA:79124 NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729 		JBrowse link
G SPIB Spi-B transcription factor IAGP HPO ORPHA:186 NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314 		JBrowse link
G SPIN4 spindlin family member 4 IAGP HPO MIM:301114 NCBI chr  X:63,347,228...63,351,332
Ensembl chr  X:63,347,228...63,351,332 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO ORPHA:648 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP HPO ORPHA:822 NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715 		JBrowse link
G SPTB spectrin beta, erythrocytic IAGP HPO ORPHA:822 NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907 		JBrowse link
G SRP54 signal recognition particle 54 IAGP HPO MIM:260400 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686 		JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP HPO ORPHA:98849 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO MIM:614162 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STEAP3 STEAP3 metalloreductase IAGP HPO MIM:615234 NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO MIM:612783 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G STX11 syntaxin 11 IAGP HPO MIM:603552 ORPHA:540 NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939 		JBrowse link
G STX5 syntaxin 5 IAGP HPO MIM:620454 NCBI chr11:62,806,860...62,832,051
Ensembl chr11:62,806,860...62,832,051 		JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP HPO ORPHA:540 NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873 		JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha IAGP HPO ORPHA:17 NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045 		JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO MIM:272200 ORPHA:585 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP HPO MIM:220110 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
G TALDO1 transaldolase 1 IAGP HPO MIM:606003 NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:171 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO MIM:259700 ORPHA:667 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TCN2 transcobalamin 2 IAGP HPO MIM:275350 NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271 		JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:1775 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1775 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:75564 ORPHA:824 ORPHA:98849 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP HPO MIM:301066 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO MIM:219700 ORPHA:1328 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 IAGP HPO ORPHA:2609 NCBI chr 3:119,498,547...119,525,090
Ensembl chr 3:119,498,547...119,525,090 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:1775 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TKFC triokinase and FMN cyclase IAGP HPO MIM:618805 NCBI chr11:61,333,228...61,353,426
Ensembl chr11:61,333,220...61,353,295 		JBrowse link
G TKT transketolase IAGP HPO ORPHA:488618 NCBI chr 3:53,224,712...53,256,022
Ensembl chr 3:53,224,712...53,256,052 		JBrowse link
G TLR8 toll like receptor 8 IAGP HPO MIM:301078 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169 		JBrowse link
G TMEM126B transmembrane protein 126B IAGP HPO ORPHA:2609 NCBI chr11:85,628,573...85,636,540
Ensembl chr11:85,628,573...85,636,539 		JBrowse link
G TMEM165 transmembrane protein 165 IAGP HPO MIM:614727 NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,957...55,453,397 		JBrowse link
G TMEM199 transmembrane protein 199 IAGP HPO MIM:616829 NCBI chr17:28,357,647...28,363,683
Ensembl chr17:28,357,642...28,363,683 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO MIM:216360 MIM:607361 ORPHA:1454 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link