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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:Eclabion
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Accession:HP:0012472 term browser browse the term
Definition:A turning outward of the lip or lips, that is, eversion of the lips.
Synonyms:exact_synonym: Eclabium;   Everted lips;   Outward turned lips
 xref: UMLS:C3550430



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Eclabion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 IAGP ORPHA:457 HPO NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626
JBrowse link
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase IAGP ORPHA:98907 HPO NCBI chr 3:43,690,870...43,734,371
Ensembl chr 3:43,690,108...43,734,371
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 IAGP OMIM:606545 HPO NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
JBrowse link
G AXIN2 axin 2 IAGP ORPHA:99798 HPO NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G CERS3 ceramide synthase 3 IAGP OMIM:615023 HPO NCBI chr15:100,400,395...100,544,683
Ensembl chr15:100,400,395...100,544,995
JBrowse link
G EDA ectodysplasin A IAGP ORPHA:99798 HPO NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDARADD EDAR associated death domain IAGP ORPHA:99798 HPO NCBI chr 1:236,394,286...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ORPHA:99798 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP OMIM:616395 HPO NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
JBrowse link
G H4C5 H4 clustered histone 5 IAGP OMIM:619950 HPO NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP ORPHA:99798 HPO NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP ORPHA:99798 HPO NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 IAGP ORPHA:397941 HPO NCBI chr 9:137,086,985...137,109,183
Ensembl chr 9:137,086,857...137,109,189
JBrowse link
G MSX1 msh homeobox 1 IAGP ORPHA:99798 HPO NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G NFIX nuclear factor I X IAGP OMIM:602535 HPO NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
JBrowse link
G PAX9 paired box 9 IAGP ORPHA:99798 HPO NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G RIN2 Ras and Rab interactor 2 IAGP OMIM:613075 HPO NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP ORPHA:99798 HPO NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TGFA transforming growth factor alpha IAGP ORPHA:99798 HPO NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G TGM1 transglutaminase 1 IAGP ORPHA:100976 HPO NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432
JBrowse link
G WNT10A Wnt family member 10A IAGP ORPHA:99798 HPO NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP ORPHA:99798 HPO NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Everted lower lip vermilion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 IAGP OMIM:242500 ORPHA:313 HPO NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626
JBrowse link
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase IAGP OMIM:275630 HPO NCBI chr 3:43,690,870...43,734,371
Ensembl chr 3:43,690,108...43,734,371
JBrowse link
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP OMIM:225410 HPO NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP OMIM:615873 HPO NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type IAGP OMIM:242100 ORPHA:313 HPO NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 IAGP OMIM:242100 ORPHA:313 HPO NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP ORPHA:2067 HPO NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP OMIM:615485 ORPHA:352577 HPO NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195
JBrowse link
G ATRX ATRX chromatin remodeler IAGP ORPHA:847 HPO NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP ORPHA:904 HPO NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
JBrowse link
G BCAS3 BCAS3 microtubule associated cell migration factor IAGP OMIM:619641 HPO NCBI chr17:60,677,851...61,392,831
Ensembl chr17:60,677,453...61,392,838
JBrowse link
G BCL11A BCL11 transcription factor A IAGP OMIM:617101 HPO NCBI chr 2:60,450,520...60,553,654
Ensembl chr 2:60,450,520...60,554,467
JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP ORPHA:904 HPO NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690
JBrowse link
G BDNF brain derived neurotrophic factor IAGP ORPHA:893 HPO NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP OMIM:617877 HPO NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP ORPHA:904 HPO NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,025...73,705,161
JBrowse link
G CCDC8 coiled-coil domain containing 8 IAGP ORPHA:2616 HPO NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564
JBrowse link
G CDH11 cadherin 11 IAGP OMIM:619736 HPO NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP ORPHA:505652 HPO NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629
JBrowse link
G CHAMP1 chromosome alignment maintaining phosphoprotein 1 IAGP OMIM:616579 HPO NCBI chr13:114,314,503...114,327,322
Ensembl chr13:114,314,482...114,337,626
JBrowse link
G CHN1 chimerin 1 IAGP ORPHA:233 HPO NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
JBrowse link
G CLIC2 chloride intracellular channel 2 IAGP ORPHA:324410 HPO NCBI chr  X:155,276,211...155,334,614
Ensembl chr  X:155,276,211...155,334,657
JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP ORPHA:904 HPO NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
JBrowse link
G CUL7 cullin 7 IAGP ORPHA:2616 HPO NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943
JBrowse link
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 IAGP ORPHA:313 HPO NCBI chr19:15,508,525...15,552,317
Ensembl chr19:15,508,525...15,552,317
JBrowse link
G DHX30 DExH-box helicase 30 IAGP OMIM:617804 HPO NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195
JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP ORPHA:904 HPO NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
JBrowse link
G DOCK7 dedicator of cytokinesis 7 IAGP ORPHA:411986 HPO NCBI chr 1:62,454,726...62,688,386
Ensembl chr 1:62,454,298...62,688,386
JBrowse link
G EDA ectodysplasin A IAGP OMIM:305100 ORPHA:181 HPO NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDA2R ectodysplasin A2 receptor IAGP ORPHA:181 HPO NCBI chr  X:66,595,637...66,639,269
Ensembl chr  X:66,595,637...66,639,298
JBrowse link
G EDAR ectodysplasin A receptor IAGP OMIM:224900 HPO NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372
JBrowse link
G EDARADD EDAR associated death domain IAGP OMIM:224900 OMIM:614940 OMIM:614941 HPO NCBI chr 1:236,394,286...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G EDNRA endothelin receptor type A IAGP OMIM:616367 HPO NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 IAGP OMIM:616393 HPO NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP OMIM:610253 ORPHA:96147 HPO NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP ORPHA:904 HPO NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
JBrowse link
G ELN elastin IAGP ORPHA:904 HPO NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP ORPHA:1466 HPO NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP ORPHA:1466 HPO NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP ORPHA:1466 HPO NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP ORPHA:1466 HPO NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 IAGP OMIM:615471 HPO NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006
JBrowse link
G FBXO11 F-box protein 11 IAGP OMIM:618089 HPO NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498
JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP ORPHA:915 HPO NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234
JBrowse link
G FHL1 four and a half LIM domains 1 IAGP OMIM:300280 HPO NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359
JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP ORPHA:904 HPO NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
JBrowse link
G FOXC1 forkhead box C1 IAGP ORPHA:782 HPO NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G FOXG1 forkhead box G1 IAGP ORPHA:261144 HPO NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,766,787...28,770,277
JBrowse link
G FRMD4A FERM domain containing 4A IAGP OMIM:616819 HPO NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP OMIM:608013 HPO NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GTF2I general transcription factor IIi IAGP ORPHA:904 HPO NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP ORPHA:904 HPO NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP ORPHA:904 HPO NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
JBrowse link
G H3-3A H3.3 histone A IAGP OMIM:619720 HPO NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019
JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP OMIM:252930 HPO NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP OMIM:137550 HPO NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP ORPHA:800 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G IDUA alpha-L-iduronidase IAGP ORPHA:93473 ORPHA:93474 HPO NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
JBrowse link
G IFT122 intraflagellar transport 122 IAGP OMIM:218330 ORPHA:1515 HPO NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
JBrowse link
G IFT43 intraflagellar transport 43 IAGP OMIM:614099 ORPHA:1515 HPO NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
JBrowse link
G IFT52 intraflagellar transport 52 IAGP ORPHA:1515 HPO NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP ORPHA:73273 HPO NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G IRX5 iroquois homeobox 5 IAGP OMIM:611174 HPO NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485
JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP OMIM:610443 ORPHA:363958 ORPHA:363965 HPO NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP ORPHA:420561 HPO NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP OMIM:618729 HPO NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
JBrowse link
G KIFBP kinesin family binding protein IAGP OMIM:609460 HPO NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544
JBrowse link
G KMT2C lysine methyltransferase 2C IAGP OMIM:617768 HPO NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644
JBrowse link
G LIMK1 LIM domain kinase 1 IAGP ORPHA:904 HPO NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
JBrowse link
G LIPN lipase family member N IAGP ORPHA:313 HPO NCBI chr10:88,757,226...88,779,626
Ensembl chr10:88,759,982...88,779,626
JBrowse link
G MAFB MAF bZIP transcription factor B IAGP ORPHA:233 HPO NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G MBD5 methyl-CpG binding domain protein 5 IAGP ORPHA:228402 HPO NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971
JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP ORPHA:578 HPO NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
JBrowse link
G MDH1 malate dehydrogenase 1 IAGP OMIM:618959 HPO NCBI chr 2:63,588,963...63,607,197
Ensembl chr 2:63,588,609...63,607,197
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ORPHA:1762 HPO NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MED12L mediator complex subunit 12L IAGP OMIM:618872 HPO NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072
JBrowse link
G MED13L mediator complex subunit 13L IAGP OMIM:616789 HPO NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693
JBrowse link
G MED25 mediator complex subunit 25 IAGP ORPHA:464738 HPO NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
JBrowse link
G METTL27 methyltransferase like 27 IAGP ORPHA:904 HPO NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase IAGP OMIM:212066 HPO NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481
JBrowse link
G MLXIPL MLX interacting protein like IAGP ORPHA:904 HPO NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
JBrowse link
G MSX1 msh homeobox 1 IAGP ORPHA:2228 HPO NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP OMIM:164280 HPO NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G MYO18B myosin XVIIIB IAGP OMIM:616549 HPO NCBI chr22:25,742,188...26,063,847
Ensembl chr22:25,742,144...26,031,045
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP ORPHA:904 HPO NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G NFIX nuclear factor I X IAGP OMIM:614753 HPO NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
JBrowse link
G NIPAL4 NIPA like domain containing 4 IAGP ORPHA:313 HPO NCBI chr 5:157,460,019...157,474,722
Ensembl chr 5:157,460,213...157,474,722
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP OMIM:137550 HPO NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP ORPHA:2616 HPO NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859
JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP ORPHA:534 HPO NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561
JBrowse link
G PAX6 paired box 6 IAGP ORPHA:893 HPO NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PCDHGC4 protocadherin gamma subfamily C, 4 IAGP OMIM:619880 HPO NCBI chr 5:141,485,030...141,512,975
Ensembl chr 5:141,484,997...141,512,975
JBrowse link
G PITX2 paired like homeodomain 2 IAGP ORPHA:782 HPO NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PLXND1 plexin D1 IAGP ORPHA:570 HPO NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP OMIM:253280 HPO NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
JBrowse link
G PUS7 pseudouridine synthase 7 IAGP OMIM:618342 HPO NCBI chr 7:105,456,501...105,522,271
Ensembl chr 7:105,439,661...105,522,271
JBrowse link
G QRICH1 glutamine rich 1 IAGP OMIM:617982 HPO NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363
JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP ORPHA:1387 HPO NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP ORPHA:1387 HPO NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
JBrowse link
G REV3L REV3 like, DNA directed polymerase zeta catalytic subunit IAGP ORPHA:570 HPO NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715
JBrowse link
G RFC2 replication factor C subunit 2 IAGP ORPHA:904 HPO NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
JBrowse link
G RPL10 ribosomal protein L10 IAGP ORPHA:459070 HPO NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP OMIM:300844 OMIM:303600 ORPHA:192 ORPHA:276630 HPO NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP ORPHA:233 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP OMIM:600920 HPO NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826
JBrowse link
G SDR9C7 short chain dehydrogenase/reductase family 9C member 7 IAGP ORPHA:313 HPO NCBI chr12:56,923,133...56,934,408
Ensembl chr12:56,923,133...56,934,408
JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP OMIM:612289 ORPHA:2963 HPO NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP OMIM:601358 ORPHA:3051 HPO NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP OMIM:616920 HPO NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962
JBrowse link
G SMS spermine synthase IAGP ORPHA:3063 HPO NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837
JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP ORPHA:177907 HPO NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP OMIM:615866 HPO NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like IAGP ORPHA:1519 HPO NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP OMIM:619595 HPO NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
JBrowse link
G STX1A syntaxin 1A IAGP ORPHA:904 HPO NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 IAGP ORPHA:313 HPO NCBI chr19:48,552,172...48,599,427
Ensembl chr19:48,552,172...48,599,425
JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP OMIM:220500 HPO NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP ORPHA:487825 HPO NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
JBrowse link
G TBL2 transducin beta like 2 IAGP ORPHA:904 HPO NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP ORPHA:1297 HPO NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G TFAP2B transcription factor AP-2 beta IAGP ORPHA:46627 HPO NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619
JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP OMIM:301066 HPO NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410
JBrowse link
G TGM1 transglutaminase 1 IAGP OMIM:242300 ORPHA:313 HPO NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432
JBrowse link
G TMEM270 transmembrane protein 270 IAGP ORPHA:904 HPO NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
JBrowse link
G TNPO2 transportin 2 IAGP OMIM:619556 HPO NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011
JBrowse link
G TTC26 tetratricopeptide repeat domain 26 IAGP OMIM:619534 HPO NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986
JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP ORPHA:904 HPO NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
JBrowse link
G WDR19 WD repeat domain 19 IAGP ORPHA:1515 HPO NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WDR35 WD repeat domain 35 IAGP OMIM:613610 ORPHA:1515 HPO NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G WT1 WT1 transcription factor IAGP ORPHA:893 HPO NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP OMIM:617865 HPO NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
JBrowse link
Everted upper lip vermilion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4B1 adaptor related protein complex 4 subunit beta 1 IAGP ORPHA:280763 HPO NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,201
JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP ORPHA:280763 HPO NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895
JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP ORPHA:280763 HPO NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,101,549...100,110,345
JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP ORPHA:280763 HPO NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996
JBrowse link
G CREBBP CREB binding protein IAGP OMIM:618332 HPO NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP OMIM:615879 HPO NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
JBrowse link
G EDA ectodysplasin A IAGP OMIM:305100 ORPHA:181 HPO NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDA2R ectodysplasin A2 receptor IAGP ORPHA:181 HPO NCBI chr  X:66,595,637...66,639,269
Ensembl chr  X:66,595,637...66,639,298
JBrowse link
G EDAR ectodysplasin A receptor IAGP OMIM:224900 HPO NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372
JBrowse link
G EDARADD EDAR associated death domain IAGP OMIM:224900 HPO NCBI chr 1:236,394,286...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP OMIM:608013 HPO NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G H4C9 H4 clustered histone 9 IAGP OMIM:619951 HPO NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,139,678
JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP ORPHA:420561 HPO NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
JBrowse link
G KCNK4 potassium two pore domain channel subfamily K member 4 IAGP OMIM:618381 HPO NCBI chr11:64,291,302...64,300,031
Ensembl chr11:64,291,302...64,300,031
JBrowse link
G KIF7 kinesin family member 7 IAGP OMIM:200990 HPO NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
JBrowse link
G MAP1B microtubule associated protein 1B IAGP OMIM:618918 HPO NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP OMIM:300855 ORPHA:276432 HPO NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080
JBrowse link
G RAI1 retinoic acid induced 1 IAGP OMIM:182290 HPO NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G SETD1A SET domain containing 1A, histone lysine methyltransferase IAGP OMIM:619056 HPO NCBI chr16:30,957,754...30,984,664
Ensembl chr16:30,957,754...30,984,664
JBrowse link
G TCF3 transcription factor 3 IAGP OMIM:619824 HPO NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615
JBrowse link
G WDR26 WD repeat domain 26 IAGP ORPHA:513456 HPO NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14888
    Phenotypic abnormality 14885
      Abnormality of head or neck 3370
        Abnormality of the head 3336
          Abnormality of the face 3023
            Abnormality of the mouth 2257
              Abnormal oral morphology 2171
                Abnormal oral cavity morphology 2147
                  Abnormal lip morphology 1106
                    Eclabion 160
                      Everted lower lip vermilion 131
                      Everted upper lip vermilion 21
paths to the root