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

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:Protruding ear
go back to main search page
Accession:HP:0000411 term browser browse the term
Definition:Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Synonyms:exact_synonym: Prominent ear;   Prominent ears
 related_synonym: Protruding ears
 alt_id: HP:0000412
 xref: SNOMEDCT_US:275478007;   UMLS:C1305420;   UMLS:C1855285


show annotations for term's descendants           Sort by:
Protruding ear term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO OMIM:619691 ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP HPO ORPHA:404448 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G AHDC1 AT-hook DNA binding motif containing 1 IAGP HPO OMIM:615829 ORPHA:412069 NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO OMIM:616603 ORPHA:90348 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP DNA:deletions, SNPs:CDS:multiple HPO
RGD		 PMID:21782149 OMIM:148050 ORPHA:261250, RGD:11068938 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561 		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 AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP HPO ORPHA:85329 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:3258 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ARX aristaless related homeobox IAGP HPO OMIM:300004 ORPHA:2508 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO OMIM:617403 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP HPO ORPHA:899 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO OMIM:261540 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP HPO ORPHA:899 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		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 BICRA BRD4 interacting chromatin remodeling complex associated protein IAGP HPO OMIM:619325 NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277 		JBrowse link
G BIN1 bridging integrator 1 IAGP HPO ORPHA:169186 NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO OMIM:210900 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP HPO OMIM:614856 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO OMIM:607932 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G BSND barttin CLCNK type accessory subunit beta IAGP HPO ORPHA:89938 NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172 		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 CAMK2G calcium/calmodulin dependent protein kinase II gamma IAGP HPO OMIM:618522 NCBI chr10:73,812,501...73,874,555
Ensembl chr10:73,812,501...73,874,591 		JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 IAGP HPO OMIM:614756 NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CCDC32 coiled-coil domain containing 32 IAGP HPO OMIM:619123 NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054 		JBrowse link
G CCDC8 coiled-coil domain containing 8 IAGP HPO OMIM:614205 ORPHA:2616 NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564 		JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit IAGP HPO ORPHA:199318 NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP DNA:missense mutations, deletion:CDS:multiple
DNA:frameshift mutations, missense mutations:CDS:multiple		 HPO
RGD		 PMID:20004762 PMID:26373698 OMIM:601776 ORPHA:2953, RGD:155663488, RGD:11061906 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158 		JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 IAGP HPO OMIM:610313 NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177 		JBrowse link
G CLCNKA chloride voltage-gated channel Ka IAGP HPO ORPHA:89938 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:89938 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		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 CLTC clathrin heavy chain IAGP HPO OMIM:617854 NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,684...59,696,956 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:93315 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO ORPHA:286 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO ORPHA:899 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO OMIM:254090 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G CREBBP CREB binding protein IAGP HPO OMIM:618332 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:899 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		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 DAG1 dystroglycan 1 IAGP HPO ORPHA:899 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DCAF17 DDB1 and CUL4 associated factor 17 IAGP HPO OMIM:241080 ORPHA:3464 NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052 		JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO OMIM:618731 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G DLX4 distal-less homeobox 4 IAGP HPO OMIM:616788 NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959 		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 DOCK6 dedicator of cytokinesis 6 IAGP HPO OMIM:614219 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DPP6 dipeptidyl peptidase like 6 IAGP HPO ORPHA:2514 NCBI chr 7:153,748,133...154,894,285
Ensembl chr 7:153,748,133...154,894,285 		JBrowse link
G DSE dermatan sulfate epimerase IAGP HPO OMIM:615539 ORPHA:2953 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO ORPHA:268261 ORPHA:464311 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 IAGP HPO OMIM:619493 NCBI chr 1:184,690,237...184,754,858
Ensembl chr 1:184,690,237...184,754,907 		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 EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO OMIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		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:90348 ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO OMIM:601675 ORPHA:33364 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:502 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP HPO ORPHA:2792 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO OMIM:259775 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G FBLN5 fibulin 5 IAGP HPO ORPHA:90348 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO ORPHA:2462 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		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 FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:2645 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FIBP FGF1 intracellular binding protein IAGP HPO OMIM:617107 ORPHA:500095 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO OMIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		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 FKRP fukutin related protein IAGP HPO ORPHA:899 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO ORPHA:899 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:300321 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO ORPHA:908 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G FN1 fibronectin 1 IAGP HPO ORPHA:93315 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G FOXG1 forkhead box G1 IAGP HPO OMIM:613454 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 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO OMIM:301091 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:317 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		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 GJB3 gap junction protein beta 3 IAGP HPO ORPHA:317 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GJB4 gap junction protein beta 4 IAGP HPO ORPHA:317 NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327 		JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		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 GTPBP2 GTP binding protein 2 IAGP HPO OMIM:617988 NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP HPO ORPHA:231140 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO OMIM:620072 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO ORPHA:352665 ORPHA:453504 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631 		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 IFT122 intraflagellar transport 122 IAGP HPO OMIM:218330 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510 		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 IGF2 insulin like growth factor 2 IAGP HPO ORPHA:231140 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G INSR insulin receptor IAGP HPO ORPHA:508 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G INTS1 integrator complex subunit 1 IAGP HPO OMIM:618571 NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389 		JBrowse link
G JARID2 jumonji and AT-rich interaction domain containing 2 IAGP HPO OMIM:620098 NCBI chr 6:15,246,069...15,522,042
Ensembl chr 6:15,246,069...15,522,042 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 IAGP HPO ORPHA:166108 NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109 		JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO OMIM:181270 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401 		JBrowse link
G KDM5C lysine demethylase 5C IAGP HPO OMIM:300534 ORPHA:85279 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,283...53,225,422 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO OMIM:147920 OMIM:300867 ORPHA:2322 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase IAGP HPO ORPHA:317 NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228 		JBrowse link
G KIF11 kinesin family member 11 IAGP HPO OMIM:152950 ORPHA:2526 NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO OMIM:147920 ORPHA:2322 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO ORPHA:221139 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO ORPHA:899 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP HPO OMIM:617468 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:235 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G LMNB1 lamin B1 IAGP HPO ORPHA:2514 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:3258 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G MAB21L1 mab-21 like 1 IAGP HPO OMIM:618479 NCBI chr13:35,473,789...35,476,689
Ensembl chr13:35,473,419...35,478,764 		JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 IAGP HPO OMIM:618443 NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351 		JBrowse link
G MBD5 methyl-CpG binding domain protein 5 IAGP HPO OMIM:156200 NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO ORPHA:85284 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:776 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP HPO OMIM:614976 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		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 ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO ORPHA:1147 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYMX myomixer, myoblast fusion factor IAGP HPO OMIM:619941 NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO OMIM:300855 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO ORPHA:1147 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		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 NDP norrin cystine knot growth factor NDP IAGP HPO ORPHA:649 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 IAGP HPO OMIM:616116 NCBI chr 5:150,497,779...150,558,211
Ensembl chr 5:150,485,818...150,558,211 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO OMIM:225060 ORPHA:3253 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO ORPHA:2751 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:363700 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NHS NHS actin remodeling regulator IAGP HPO ORPHA:627 NCBI chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994 		JBrowse link
G NKAP NFKB activating protein IAGP HPO OMIM:301039 NCBI chr  X:119,920,672...119,943,751
Ensembl chr  X:119,920,672...119,943,751 		JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 IAGP HPO OMIM:615722 ORPHA:401777 NCBI chr 5:93,583,222...93,594,611
Ensembl chr 5:93,583,222...93,594,611 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO OMIM:619695 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G NSRP1 nuclear speckle splicing regulatory protein 1 IAGP HPO OMIM:620001 NCBI chr17:30,116,816...30,186,475
Ensembl chr17:30,115,521...30,186,475 		JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO ORPHA:235 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP HPO OMIM:612921 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 OTUD6B OTU deubiquitinase 6B IAGP HPO OMIM:617452 NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP HPO ORPHA:329224 NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744 		JBrowse link
G PAX1 paired box 1 IAGP HPO ORPHA:2792 NCBI chr20:21,705,664...21,718,481
Ensembl chr20:21,705,659...21,718,481 		JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 IAGP HPO OMIM:620191 NCBI chr11:74,330,316...74,398,433
Ensembl chr11:74,330,316...74,398,433 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:108145 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO ORPHA:221139 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PLK4 polo like kinase 4 IAGP HPO ORPHA:2518 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP HPO OMIM:301030 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:899 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP HPO ORPHA:899 NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:899 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:899 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:899 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G POU3F3 POU class 3 homeobox 3 IAGP HPO OMIM:618604 NCBI chr 2:104,854,115...104,858,574
Ensembl chr 2:104,853,287...104,858,574 		JBrowse link
G PPP1R12A protein phosphatase 1 regulatory subunit 12A IAGP HPO OMIM:618820 NCBI chr12:79,773,563...79,935,460
Ensembl chr12:79,773,563...79,935,460 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP HPO OMIM:309500 ORPHA:93947 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G PRUNE1 prune exopolyphosphatase 1 IAGP HPO OMIM:617481 NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO OMIM:151100 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 PYCR1 pyrroline-5-carboxylate reductase 1 IAGP HPO OMIM:612940 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO ORPHA:481152 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:502 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP HPO ORPHA:1587 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		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 RFX7 regulatory factor X7 IAGP HPO OMIM:620330 NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082 		JBrowse link
G RNF113A ring finger protein 113A IAGP HPO ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO OMIM:300998 ORPHA:435938 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:303600 ORPHA:192 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 IAGP HPO ORPHA:899 NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:169186 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		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 SH3PXD2B SH3 and PX domains 2B IAGP HPO OMIM:249420 ORPHA:137834 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP HPO OMIM:606232 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,415...50,733,212 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO OMIM:613406 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO ORPHA:2462 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 IAGP HPO ORPHA:447997 NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865 		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 SMPD4 sphingomyelin phosphodiesterase 4 IAGP HPO OMIM:618622 NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO OMIM:617140 ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G SPEG striated muscle enriched protein kinase IAGP HPO ORPHA:169186 NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629 		JBrowse link
G SPOP speckle type BTB/POZ protein IAGP HPO OMIM:618829 NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163 		JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO OMIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446 		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 TAF1 TATA-box binding protein associated factor 1 IAGP HPO OMIM:300966 ORPHA:480907 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,222...71,532,374 		JBrowse link
G TARS1 threonyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091 		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 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 TBX22 T-box transcription factor 22 IAGP HPO OMIM:302905 NCBI chr  X:80,014,753...80,031,774
Ensembl chr  X:80,014,753...80,031,774 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO ORPHA:261279 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G TET3 tet methylcytosine dioxygenase 3 IAGP HPO OMIM:618798 NCBI chr 2:73,983,631...74,135,498
Ensembl chr 2:73,984,910...74,108,176 		JBrowse link
G TFAP2B transcription factor AP-2 beta IAGP HPO OMIM:169100 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO OMIM:609192 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		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 TNNI2 troponin I2, fast skeletal type IAGP HPO ORPHA:1147 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP HPO ORPHA:1147 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
G TP53RK TP53 regulating kinase IAGP HPO OMIM:617730 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444 		JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:69085 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:1147 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TRAIP TRAF interacting protein IAGP HPO OMIM:616777 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574 		JBrowse link
G TRMT1 tRNA methyltransferase 1 IAGP HPO OMIM:618302 NCBI chr19:13,104,907...13,116,740
Ensembl chr19:13,104,902...13,117,567 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO OMIM:190350 OMIM:190351 ORPHA:502 ORPHA:77258 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G TTN titin IAGP HPO ORPHA:169186 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TUBGCP2 tubulin gamma complex component 2 IAGP HPO OMIM:618737 NCBI chr10:133,278,635...133,312,337
Ensembl chr10:133,278,635...133,318,823 		JBrowse link
G TUBGCP4 tubulin gamma complex component 4 IAGP HPO ORPHA:2518 NCBI chr15:43,371,101...43,409,771
Ensembl chr15:43,369,221...43,409,771 		JBrowse link
G TUBGCP6 tubulin gamma complex component 6 IAGP HPO ORPHA:2518 NCBI chr22:50,217,694...50,245,023
Ensembl chr22:50,217,689...50,245,023 		JBrowse link
G TXNL4A thioredoxin like 4A IAGP HPO OMIM:608572 NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949 		JBrowse link
G UBA2 ubiquitin like modifier activating enzyme 2 IAGP HPO OMIM:619959 NCBI chr19:34,428,381...34,471,251
Ensembl chr19:34,428,352...34,471,251 		JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP HPO ORPHA:776 NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998 		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 OMIM:614378 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO ORPHA:247768 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO ORPHA:2879 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP HPO OMIM:300799 ORPHA:776 NCBI chr  X:129,803,288...129,843,886
Ensembl chr  X:129,803,288...129,843,909 		JBrowse link
G ZNF407 zinc finger protein 407 IAGP HPO OMIM:619557 NCBI chr18:74,597,870...75,065,671
Ensembl chr18:74,597,870...75,065,671 		JBrowse link
G ZNF462 zinc finger protein 462 IAGP HPO OMIM:618619 NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,863,166...107,013,634 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21564
    Phenotypic abnormality 21554
      Abnormality of the ear 2562
        Abnormal ear morphology 1719
          Abnormality of the outer ear 1334
            Abnormal pinna morphology 1318
              Protruding ear 214
paths to the root