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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 lower lip morphology
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Accession:HP:0000178 term browser browse the term
Definition:An abnormality of the lower lip.
Synonyms:exact_synonym: Abnormality of lower lip
 narrow_synonym: Anomaly of the lower lip;   Deformity of the lower lip;   Malformation of the lower lip
 xref: UMLS:C4025883


show annotations for term's descendants           Sort by:
Cleft lower lip term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO OMIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
Curved linear dimple below the lower lip term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO OMIM:305400 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		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 HPO OMIM:242500 ORPHA:313 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 HPO OMIM:275630 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 HPO OMIM:225410 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 HPO OMIM:615873 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 HPO OMIM:242100 ORPHA:313 NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716 		JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 IAGP HPO OMIM:242100 ORPHA:313 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 HPO ORPHA:2067 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		JBrowse link
G ASPRV1 aspartic peptidase retroviral like 1 IAGP HPO ORPHA:313 NCBI chr 2:69,932,717...70,087,375
Ensembl chr 2:69,960,089...69,961,631 		JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP HPO OMIM:615485 ORPHA:352577 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:847 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BCAS3 BCAS3 microtubule associated cell migration factor IAGP HPO OMIM:619641 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 HPO OMIM:617101 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467 		JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP HPO ORPHA:904 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 HPO ORPHA:893 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 HPO OMIM:617877 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 HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G CCDC8 coiled-coil domain containing 8 IAGP HPO ORPHA:2616 NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564 		JBrowse link
G CDH11 cadherin 11 IAGP HPO OMIM:619736 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 HPO ORPHA:505652 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 HPO OMIM:616579 NCBI chr13:114,314,503...114,327,322
Ensembl chr13:114,314,482...114,337,626 		JBrowse link
G CHN1 chimerin 1 IAGP HPO ORPHA:233 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 HPO ORPHA:324410 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 HPO ORPHA:904 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 HPO ORPHA:2616 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 HPO ORPHA:313 NCBI chr19:15,508,525...15,552,317
Ensembl chr19:15,508,525...15,552,317 		JBrowse link
G DENND5A DENN domain containing 5A IAGP HPO OMIM:617281 NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,959 		JBrowse link
G DHX30 DExH-box helicase 30 IAGP HPO OMIM:617804 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 HPO ORPHA:904 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 HPO OMIM:615859 ORPHA:411986 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 HPO OMIM:305100 ORPHA:181 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 HPO ORPHA:181 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 HPO OMIM:224900 NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372 		JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO OMIM:224900 OMIM:614940 OMIM:614941 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915 		JBrowse link
G EDNRA endothelin receptor type A IAGP HPO OMIM:616367 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 HPO OMIM:616393 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 HPO OMIM:610253 ORPHA:96147 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 HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO ORPHA:904 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 HPO ORPHA:1466 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 HPO ORPHA:1466 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 HPO ORPHA:1466 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 HPO ORPHA:1466 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 HPO OMIM:615471 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 HPO OMIM:618089 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 HPO ORPHA:915 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 HPO OMIM:300280 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 HPO ORPHA:904 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 HPO ORPHA:782 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 HPO ORPHA:261144 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G FRMD4A FERM domain containing 4A IAGP HPO OMIM:616819 NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO OMIM:608013 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 HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G H3-3A H3.3 histone A IAGP HPO OMIM:619720 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 HPO OMIM:252930 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 HPO OMIM:137550 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:800 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 HPO ORPHA:93473 ORPHA:93474 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO OMIM:218330 ORPHA:1515 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 HPO OMIM:614099 ORPHA:1515 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT52 intraflagellar transport 52 IAGP HPO ORPHA:1515 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO OMIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP HPO ORPHA:73273 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IRX5 iroquois homeobox 5 IAGP HPO OMIM:611174 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 HPO OMIM:610443 ORPHA:363958 ORPHA:363965 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 HPO ORPHA:420561 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 HPO OMIM:618729 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 HPO OMIM:609460 NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544 		JBrowse link
G KMT2C lysine methyltransferase 2C IAGP HPO OMIM:617768 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 HPO ORPHA:904 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 HPO ORPHA:313 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 HPO ORPHA:233 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 HPO OMIM:156200 ORPHA:228402 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 HPO ORPHA:578 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009 		JBrowse link
G MDH1 malate dehydrogenase 1 IAGP HPO OMIM:618959 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 HPO ORPHA:1762 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 HPO OMIM:618872 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 HPO OMIM:616789 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 HPO OMIM:616449 ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase IAGP HPO OMIM:212066 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 HPO ORPHA:904 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 HPO ORPHA:2228 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 HPO OMIM:164280 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 HPO OMIM:616549 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 HPO ORPHA:904 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 HPO OMIM:614753 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 HPO ORPHA:313 NCBI chr 5:157,460,213...157,474,722
Ensembl chr 5:157,460,213...157,474,722 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO OMIM:137550 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 HPO ORPHA:2616 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 HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 IAGP HPO OMIM:618067 NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147 		JBrowse link
G PAX6 paired box 6 IAGP HPO ORPHA:893 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 HPO OMIM:619880 NCBI chr 5:141,485,030...141,512,975
Ensembl chr 5:141,484,997...141,512,975 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO OMIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PITX2 paired like homeodomain 2 IAGP HPO ORPHA:782 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 HPO ORPHA:570 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 HPO OMIM:253280 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 HPO OMIM:618342 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 HPO OMIM:617982 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 HPO ORPHA:1387 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 HPO ORPHA:1387 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 HPO ORPHA:570 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 HPO ORPHA:904 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 HPO ORPHA:459070 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 HPO OMIM:300844 OMIM:303600 ORPHA:192 ORPHA:276630 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 HPO ORPHA:233 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 HPO OMIM:600920 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 HPO ORPHA:313 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 HPO OMIM:612289 ORPHA:2963 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 HPO OMIM:601358 ORPHA:3051 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 HPO OMIM:616920 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962 		JBrowse link
G SMS spermine synthase IAGP HPO ORPHA:3063 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 HPO ORPHA:177907 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 HPO OMIM:615866 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 HPO ORPHA:1519 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 HPO OMIM:619595 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 IAGP HPO ORPHA:313 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 HPO OMIM:220500 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 HPO OMIM:602342 ORPHA:487825 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 HPO ORPHA:904 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 HPO ORPHA:1297 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 HPO ORPHA:46627 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 HPO OMIM:301066 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 HPO OMIM:242300 ORPHA:313 NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432 		JBrowse link
G TMEM147 transmembrane protein 147 IAGP HPO OMIM:620075 NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G TNPO2 transportin 2 IAGP HPO OMIM:619556 NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO ORPHA:1515 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 HPO OMIM:613610 ORPHA:1515 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:893 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 HPO OMIM:617865 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Lower lip pit term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRHL3 grainyhead like transcription factor 3 IAGP HPO ORPHA:888 NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482 		JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO OMIM:119300 OMIM:119500 ORPHA:888 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO OMIM:300867 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO OMIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
Midline notching of lower lip term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCNM1 sodium channel modifier 1 IAGP HPO OMIM:620107 NCBI chr 1:151,166,144...151,170,296
Ensembl chr 1:151,156,664...151,170,296 		JBrowse link
Thick lower lip vermilion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO OMIM:239850 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACER3 alkaline ceramidase 3 IAGP HPO OMIM:617762 NCBI chr11:76,860,918...77,026,797
Ensembl chr11:76,860,859...77,026,797 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP HPO OMIM:615873 ORPHA:404448 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G AFF3 ALF transcription elongation factor 3 IAGP HPO OMIM:619297 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
G AGA aspartylglucosaminidase IAGP HPO OMIM:208400 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO OMIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP HPO OMIM:230740 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		JBrowse link
G AP2M1 adaptor related protein complex 2 subunit mu 1 IAGP HPO ORPHA:1942 NCBI chr 3:184,174,855...184,184,091
Ensembl chr 3:184,174,689...184,184,214 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP HPO OMIM:614607 ORPHA:1465 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Thick lower lip vermilion ClinVar
HPO		 PMID:24674232 PMID:25741868 OMIM:135900 ORPHA:1465 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP HPO ORPHA:1465 NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:79500 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO OMIM:301040 OMIM:309580 ORPHA:847 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO OMIM:617120 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP HPO ORPHA:904 NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G 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 CAMTA1 calmodulin binding transcription activator 1 IAGP HPO OMIM:614756 ORPHA:314647 NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706 		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 CDH11 cadherin 11 IAGP HPO OMIM:211380 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 HPO OMIM:300672 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO OMIM:613804 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 IAGP HPO ORPHA:1942 NCBI chr15:92,900,324...93,027,996
Ensembl chr15:92,886,203...93,027,996 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO OMIM:154780 ORPHA:560 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G CUL4B cullin 4B IAGP HPO OMIM:300354 ORPHA:85293 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074 		JBrowse link
G CUL7 cullin 7 IAGP HPO OMIM:273750 NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943 		JBrowse link
G DEAF1 DEAF1 transcription factor IAGP HPO OMIM:615828 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G DPF2 double PHD fingers 2 IAGP HPO OMIM:618027 ORPHA:1465 NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP ClinVar Annotator: match by term: Thick lower lip vermilion ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO OMIM:614104 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G EBF3 EBF transcription factor 3 IAGP HPO OMIM:617330 NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053 		JBrowse link
G ECM1 extracellular matrix protein 1 IAGP HPO ORPHA:530 NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP HPO ORPHA:261652 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 HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO OMIM:194050 ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO OMIM:102370 ORPHA:969 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:555877 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FRMD4A FERM domain containing 4A IAGP HPO ORPHA:466688 NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142 		JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 IAGP HPO OMIM:309549 NCBI chr  X:48,476,021...48,486,364
Ensembl chr  X:48,476,021...48,486,364 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO OMIM:230000 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO OMIM:612474 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP HPO OMIM:612474 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G GLA galactosidase alpha IAGP HPO ORPHA:324 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO OMIM:610829 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GNAI1 G protein subunit alpha i1 IAGP HPO OMIM:619854 NCBI chr 7:80,134,831...80,226,181
Ensembl chr 7:79,768,028...80,226,181 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP ClinVar Annotator: match by term: Thick lower lip vermilion ClinVar
HPO		 PMID:25741868 PMID:28492532 OMIM:252940 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G HDAC4 histone deacetylase 4 IAGP HPO OMIM:619797 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 IAGP HPO OMIM:617268 NCBI chr 2:196,194,072...196,593,554
Ensembl chr 2:196,189,099...196,593,684 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO OMIM:218040 ORPHA:3071 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP HPO OMIM:309590 NCBI chr  X:53,532,096...53,686,719
Ensembl chr  X:53,532,096...53,686,752 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO OMIM:309900 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G INSR insulin receptor IAGP HPO OMIM:246200 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G KAT5 lysine acetyltransferase 5 IAGP HPO OMIM:619103 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604 		JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP HPO OMIM:618658 NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281 		JBrowse link
G KIF11 kinesin family member 11 IAGP HPO OMIM:152950 NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395 		JBrowse link
G KIF15 kinesin family member 15 IAGP HPO ORPHA:261323 NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376 		JBrowse link
G KMT2C lysine methyltransferase 2C IAGP HPO ORPHA:261652 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 IAGP HPO OMIM:619451 NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO ORPHA:969 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		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 MED12 mediator complex subunit 12 IAGP HPO OMIM:305450 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO OMIM:194050 ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		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 NAGA alpha-N-acetylgalactosaminidase IAGP HPO OMIM:609242 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
G NANS N-acetylneuraminate synthase IAGP HPO OMIM:610442 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,732...98,083,077 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO ORPHA:812 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905 		JBrowse link
G NEXMIF neurite extension and migration factor IAGP HPO ORPHA:1942 NCBI chr  X:74,732,856...74,925,452
Ensembl chr  X:74,732,856...74,925,472 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO OMIM:256520 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO OMIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G POU4F1 POU class 4 homeobox 1 IAGP HPO ORPHA:314647 NCBI chr13:78,598,362...78,603,552
Ensembl chr13:78,598,362...78,603,552 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP HPO ORPHA:2701 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO OMIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO OMIM:600002 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		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 PUS7 pseudouridine synthase 7 IAGP HPO OMIM:618342 NCBI chr 7:105,456,501...105,522,271
Ensembl chr 7:105,439,661...105,522,271 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO OMIM:611554 ORPHA:648 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		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 RBMX RNA binding motif protein X-linked IAGP HPO OMIM:300238 NCBI chr  X:136,869,192...136,880,725
Ensembl chr  X:136,848,004...136,880,764 		JBrowse link
G RET ret proto-oncogene IAGP HPO OMIM:162300 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 IAGP HPO OMIM:618004 NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509 		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 RNF135 ring finger protein 135 IAGP HPO ORPHA:137634 NCBI chr17:30,958,921...30,999,911
Ensembl chr17:30,970,984...30,999,911 		JBrowse link
G RPS23 ribosomal protein S23 IAGP HPO OMIM:617412 NCBI chr 5:82,273,320...82,278,354
Ensembl chr 5:82,273,320...82,278,396 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO OMIM:300844 OMIM:303600 ORPHA:192 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		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 SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO ORPHA:1942 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
G SETD1B SET domain containing 1B, histone lysine methyltransferase IAGP HPO OMIM:619000 NCBI chr12:121,790,155...121,832,656
Ensembl chr12:121,804,009...121,832,656 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP HPO ORPHA:2701 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO OMIM:613406 ORPHA:94065 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP HPO ORPHA:1942 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC6A1 solute carrier family 6 member 1 IAGP HPO ORPHA:1942 NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP HPO OMIM:601358 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP HPO OMIM:614609 ORPHA:1465 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO ORPHA:1465 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 IAGP HPO OMIM:618362 ORPHA:1465 NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567 		JBrowse link
G SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 IAGP HPO ORPHA:1465 NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO OMIM:616938 ORPHA:1465 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMC5 structural maintenance of chromosomes 5 IAGP HPO OMIM:620185 NCBI chr 9:70,258,978...70,354,873
Ensembl chr 9:70,258,978...70,354,873 		JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP HPO OMIM:616920 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962 		JBrowse link
G SMS spermine synthase IAGP HPO OMIM:309583 ORPHA:3063 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837 		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 SOX11 SRY-box transcription factor 11 IAGP HPO ORPHA:1465 NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385 		JBrowse link
G SOX4 SRY-box transcription factor 4 IAGP HPO ORPHA:1465 NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619 		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 STRADA STE20 related adaptor alpha IAGP HPO OMIM:611087 NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP HPO ORPHA:1942 NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689 		JBrowse link
G TASP1 taspase 1 IAGP HPO OMIM:618950 NCBI chr20:13,104,772...13,638,932
Ensembl chr20:13,389,392...13,638,932 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO OMIM:220500 ORPHA:79500 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TMEM147 transmembrane protein 147 IAGP HPO OMIM:620075 NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G TMEM53 transmembrane protein 53 IAGP HPO OMIM:619727 NCBI chr 1:44,653,247...44,674,481
Ensembl chr 1:44,635,238...44,674,481 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase IAGP HPO OMIM:618792 NCBI chr 4:39,498,755...39,527,439
Ensembl chr 4:39,498,755...39,528,311 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G YY1 YY1 transcription factor IAGP HPO OMIM:617557 ORPHA:506358 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO OMIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
Thin lower lip vermilion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO OMIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO OMIM:613328 ORPHA:221139 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:280633 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO OMIM:613328 ORPHA:221139 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G THOC6 THO complex subunit 6 IAGP HPO ORPHA:363444 NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of head or neck 3554
        Abnormality of the head 3525
          Abnormality of the face 3119
            Abnormality of the mouth 2413
              Abnormal oral morphology 2323
                Abnormal oral cavity morphology 2299
                  Abnormal lip morphology 1205
                    Abnormal lower lip morphology 240
                      Cleft lower lip 1
                      Curved linear dimple below the lower lip 1
                      Everted lower lip vermilion 136
                      Lower lip pit 4
                      Midline notching of lower lip 1
                      Thick lower lip vermilion 135
                      Thin lower lip vermilion 5
paths to the root