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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:Abnormality of the tongue
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Accession:HP:0000157 term browser browse the term
Definition:Any abnormality of the tongue.
Synonyms:exact_synonym: Abnormal tongue;   Glossal abnormality;   Lingual abnormality;   Tongue abnormality
 xref: UMLS:C0878638



show annotations for term's descendants           Sort by:
Abnormality of the tongue term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2M beta-2-microglobulin IAGP HPO ORPHA:314652 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO ORPHA:2990 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO ORPHA:659 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423
JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO ORPHA:2990 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO ORPHA:216866 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887
JBrowse link
G PERP p53 apoptosis effector related to PMP22 IAGP HPO ORPHA:659 NCBI chr 6:138,088,505...138,107,419
Ensembl chr 6:138,088,505...138,107,419
JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO ORPHA:912 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO ORPHA:912 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
JBrowse link
G PEX11B peroxisomal biogenesis factor 11 beta IAGP HPO ORPHA:912 NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717
JBrowse link
G PEX12 peroxisomal biogenesis factor 12 IAGP HPO ORPHA:912 NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 IAGP HPO ORPHA:912 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 IAGP HPO ORPHA:912 NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758
JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO ORPHA:912 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812
JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO ORPHA:912 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO ORPHA:912 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP HPO ORPHA:912 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396
JBrowse link
G PEX3 peroxisomal biogenesis factor 3 IAGP HPO ORPHA:912 NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO ORPHA:912 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:912 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
JBrowse link
G SLC39A4 solute carrier family 39 member 4 IAGP HPO ORPHA:37 NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP ClinVar Annotator: match by term: Lingual abnormality ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069
JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:2753 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Abnormality of the tongue ClinVar PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 IAGP HPO ORPHA:659 NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812
JBrowse link
Abnormal tongue morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PKP1 plakophilin 1 IAGP HPO ORPHA:158668 NCBI chr 1:201,283,506...201,332,989
Ensembl chr 1:201,283,452...201,332,993
JBrowse link
Abnormal tongue physiology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP HPO ORPHA:544254 NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689
JBrowse link
Abnormality of the tongue muscle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein IAGP HPO ORPHA:370968 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370968 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO ORPHA:370968 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370968 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:370968 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
JBrowse link
Aglossia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRRX1 paired related homeobox 1 IAGP HPO OMIM:202650 NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421
JBrowse link
Ankyloglossia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 BCR BCR activator of RhoGEF and GTPase IAGP HPO ORPHA:261330 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
JBrowse link
G CDC42BPB CDC42 binding protein kinase beta IAGP HPO OMIM:619841 NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:79408 ORPHA:89842 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IAGP HPO ORPHA:261330 NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747
JBrowse link
G DDX59 DEAD-box helicase 59 IAGP HPO OMIM:174300 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO OMIM:602361 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039
JBrowse link
G H4C5 H4 clustered histone 5 IAGP HPO OMIM:619950 NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO OMIM:620186 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO ORPHA:261330 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MID1 midline 1 IAGP HPO ORPHA:2745 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654
JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP HPO ORPHA:79408 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G NXN nucleoredoxin IAGP HPO ORPHA:1507 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP ClinVar Annotator: match by term: Tongue tie
ClinVar Annotator: match by term: Ankyloglossia
ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO OMIM:311200 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G POU4F1 POU class 4 homeobox 1 IAGP HPO OMIM:619352 NCBI chr13:78,598,362...78,603,552
Ensembl chr13:78,598,362...78,603,552
JBrowse link
G PRR12 proline rich 12 IAGP HPO OMIM:619539 NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO ORPHA:1507 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G RSPO2 R-spondin 2 IAGP HPO OMIM:618021 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Tongue tie ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO OMIM:616078 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO OMIM:619525 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
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 TBX22 T-box transcription factor 22 IAGP HPO OMIM:303400 NCBI chr  X:80,014,753...80,031,774
Ensembl chr  X:80,014,753...80,031,774
JBrowse link
G TELO2 telomere maintenance 2 IAGP HPO ORPHA:488642 NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Aplasia/Hypoplasia of the tongue term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:564 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO ORPHA:564 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:564 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:564 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:564 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO ORPHA:1358 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612
JBrowse link
G MYMX myomixer, myoblast fusion factor IAGP HPO ORPHA:1358 NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234
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 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 RPGRIP1 RPGR interacting protein 1 IAGP HPO ORPHA:564 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO ORPHA:564 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G TCTN1 tectonic family member 1 IAGP HPO ORPHA:564 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431
JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO ORPHA:564 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:564 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO ORPHA:564 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO ORPHA:564 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:564 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO ORPHA:564 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:564 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO ORPHA:564 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP HPO ORPHA:193 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
JBrowse link
Bifid tongue term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX3 ALX homeobox 3 IAGP HPO ORPHA:391474 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672
JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO OMIM:615948 ORPHA:434179 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO OMIM:616300 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
JBrowse link
G DDX59 DEAD-box helicase 59 IAGP HPO OMIM:174300 ORPHA:2919 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO ORPHA:818 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO OMIM:180700 ORPHA:3107 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO OMIM:616894 ORPHA:3107 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO OMIM:613091 ORPHA:93271 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP HPO ORPHA:93271 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:93271 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP HPO ORPHA:2052 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP HPO ORPHA:2052 NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131
JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO ORPHA:3107 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP HPO ORPHA:2052 NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO OMIM:616580 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 IFT80 intraflagellar transport 80 IAGP HPO ORPHA:93271 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G IPO8 importin 8 IAGP HPO OMIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP HPO ORPHA:1596 NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952
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 NXN nucleoredoxin IAGP HPO ORPHA:1507 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP DNA:deletion:exon:c.2183delG (human) HPO
RGD
PMID:21729220 OMIM:311200, RGD:11535960 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO ORPHA:1401 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO OMIM:268310 ORPHA:1507 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO ORPHA:93271 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G WNT5A Wnt family member 5A IAGP HPO OMIM:180700 ORPHA:3107 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
JBrowse link
Difficulty in tongue movements term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO OMIM:205100 OMIM:606353 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO ORPHA:306674 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
JBrowse link
G EDN1 endothelin 1 IAGP HPO ORPHA:137888 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP HPO OMIM:219000 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
JBrowse link
G GAA alpha glucosidase IAGP HPO ORPHA:308552 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881
JBrowse link
G GIPC1 GIPC PDZ domain containing family member 1 IAGP HPO ORPHA:98897 NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149
JBrowse link
G GNAI3 G protein subunit alpha i3 IAGP HPO ORPHA:137888 NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195
JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO ORPHA:98897 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258
JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO ORPHA:98897 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833
JBrowse link
G PLCB4 phospholipase C beta 4 IAGP HPO ORPHA:137888 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593
JBrowse link
G RILPL1 Rab interacting lysosomal protein like 1 IAGP HPO ORPHA:98897 NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719
JBrowse link
G SBF2 SET binding factor 2 IAGP HPO ORPHA:99956 NCBI chr11:9,778,668...10,303,837
Ensembl chr11:9,776,776...10,304,877
JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP HPO ORPHA:99949 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163
JBrowse link
Exaggerated median tongue furrow term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC3 glypican 3 IAGP HPO OMIM:312870 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100
JBrowse link
G GPC4 glypican 4 IAGP HPO OMIM:312870 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
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 SOX5 SRY-box transcription factor 5 IAGP HPO ORPHA:313892 NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544
JBrowse link
Furrowed tongue term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO OMIM:615109 ORPHA:201 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:564 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO ORPHA:564 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:564 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:564 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP HPO OMIM:615065 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834
JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO OMIM:148210 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G IL36RN interleukin 36 receptor antagonist IAGP HPO OMIM:614204 NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382
JBrowse link
G INSR insulin receptor IAGP HPO ORPHA:769 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G KDM5C lysine demethylase 5C IAGP HPO OMIM:300534 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,283...53,225,422
JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO ORPHA:201 NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533
JBrowse link
G KRT6A keratin 6A IAGP HPO OMIM:615726 NCBI chr12:52,487,176...52,493,257
Ensembl chr12:52,487,176...52,493,257
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 MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:564 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO OMIM:615108 ORPHA:201 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO OMIM:158350 ORPHA:201 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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 RERE arginine-glutamic acid dipeptide repeats IAGP HPO OMIM:616975 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP HPO ORPHA:564 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO ORPHA:564 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:201 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,032
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:201 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:201 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO ORPHA:201 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415
JBrowse link
G SLC39A4 solute carrier family 39 member 4 IAGP HPO ORPHA:37 NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP HPO OMIM:158310 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
JBrowse link
G TCTN1 tectonic family member 1 IAGP HPO ORPHA:564 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431
JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO ORPHA:564 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:564 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO ORPHA:564 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO ORPHA:564 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:564 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO ORPHA:564 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:564 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TP63 tumor protein p63 IAGP ClinVar Annotator: match by term: Furrowed tongue ClinVar PMID:25741868 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO ORPHA:564 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
JBrowse link
G USF3 upstream transcription factor family member 3 IAGP HPO ORPHA:201 NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646
JBrowse link
Geographic tongue term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1S3 adaptor related protein complex 1 subunit sigma 3 IAGP HPO ORPHA:247353 NCBI chr 2:223,755,326...223,837,582
Ensembl chr 2:223,667,680...223,838,027
JBrowse link
G IL36RN interleukin 36 receptor antagonist IAGP HPO OMIM:614204 ORPHA:247353 NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382
JBrowse link
Glossitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMN amnion associated transmembrane protein IAGP HPO ORPHA:35858 NCBI chr14:102,922,663...102,930,842
Ensembl chr14:102,922,663...102,933,596
JBrowse link
G CLTRN collectrin, amino acid transport regulator IAGP HPO ORPHA:2116 NCBI chr  X:15,627,318...15,675,644
Ensembl chr  X:15,627,318...15,675,012
JBrowse link
G CUBN cubilin IAGP HPO ORPHA:35858 NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:397 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:397 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G LMBRD1 LMBR1 domain containing 1 IAGP HPO OMIM:277380 ORPHA:79284 NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236
JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382
JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP HPO ORPHA:397 NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:397 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G SLC39A4 solute carrier family 39 member 4 IAGP HPO ORPHA:37 NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
JBrowse link
G SLC46A1 solute carrier family 46 member 1 IAGP HPO ORPHA:90045 NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197
JBrowse link
G SLC6A19 solute carrier family 6 member 19 IAGP HPO OMIM:234500 ORPHA:2116 NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111
JBrowse link
Glossoptosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF4 ALF transcription elongation factor 4 IAGP HPO ORPHA:444077 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO ORPHA:47 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO OMIM:611209 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO ORPHA:440354 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO ORPHA:1427 ORPHA:166100 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:166100 ORPHA:93346 ORPHA:94068 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G EDN1 endothelin 1 IAGP HPO OMIM:615706 ORPHA:137888 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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 FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G FLNA filamin A IAGP HPO ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GNAI3 G protein subunit alpha i3 IAGP HPO OMIM:602483 ORPHA:137888 NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195
JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO OMIM:254940 ORPHA:1358 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612
JBrowse link
G MYMX myomixer, myoblast fusion factor IAGP HPO ORPHA:1358 NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234
JBrowse link
G NFASC neurofascin IAGP HPO OMIM:618356 NCBI chr 1:204,828,652...205,022,822
Ensembl chr 1:204,828,651...205,022,822
JBrowse link
G NFIX nuclear factor I X IAGP HPO OMIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO OMIM:614876 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812
JBrowse link
G PLCB4 phospholipase C beta 4 IAGP HPO OMIM:614669 ORPHA:137888 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593
JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO ORPHA:861 NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419
JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
JBrowse link
G RBM10 RNA binding motif protein 10 IAGP HPO OMIM:311900 ORPHA:2886 NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813
JBrowse link
G RSPO2 R-spondin 2 IAGP HPO OMIM:618021 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO ORPHA:1452 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G SLC35B2 solute carrier family 35 member B2 IAGP HPO OMIM:620269 NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890
JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO OMIM:117650 ORPHA:1393 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:718 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP HPO OMIM:616145 ORPHA:1388 NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242
JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
JBrowse link
Hamartoma of tongue term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO OMIM:615948 ORPHA:434179 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO OMIM:616300 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO OMIM:277170 ORPHA:2754 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
JBrowse link
G DDX59 DEAD-box helicase 59 IAGP HPO OMIM:174300 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO OMIM:613091 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G EDN1 endothelin 1 IAGP HPO ORPHA:137888 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G FAM149B1 family with sequence similarity 149 member B1 IAGP HPO ORPHA:2754 NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504
JBrowse link
G GNAI3 G protein subunit alpha i3 IAGP HPO ORPHA:137888 NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195
JBrowse link
G INTU inturned planar cell polarity protein IAGP HPO OMIM:617925 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737
JBrowse link
G KIAA0586 KIAA0586 IAGP HPO OMIM:616546 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
JBrowse link
G KIAA0753 KIAA0753 IAGP HPO ORPHA:2754 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:2754 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 IAGP HPO OMIM:619775 NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,612
JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO OMIM:263520 ORPHA:2751 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO OMIM:311200 ORPHA:2750 ORPHA:2754 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO ORPHA:2754 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272
JBrowse link
G PLCB4 phospholipase C beta 4 IAGP HPO ORPHA:137888 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593
JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO OMIM:258860 ORPHA:2754 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO OMIM:617563 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO ORPHA:2754 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:2752 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP HPO ORPHA:2754 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586
JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP HPO OMIM:217085 ORPHA:1338 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843
JBrowse link
Hypogeusia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP1 elongator acetyltransferase complex subunit 1 IAGP HPO OMIM:223900 NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328
JBrowse link
G KIF1A kinesin family member 1A IAGP HPO OMIM:201300 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
JBrowse link
G RETREG1 reticulophagy regulator 1 IAGP HPO OMIM:201300 NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP HPO OMIM:201300 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G SLC39A4 solute carrier family 39 member 4 IAGP HPO OMIM:201100 NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 IAGP HPO OMIM:201300 NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452
JBrowse link
Lobulated tongue term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO OMIM:615948 ORPHA:434179 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO OMIM:616300 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO OMIM:277170 ORPHA:2754 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
JBrowse link
G DDX59 DEAD-box helicase 59 IAGP HPO OMIM:174300 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
JBrowse link
G FAM149B1 family with sequence similarity 149 member B1 IAGP HPO ORPHA:2754 NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504
JBrowse link
G KIAA0753 KIAA0753 IAGP HPO OMIM:617127 ORPHA:2754 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:2754 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
JBrowse link
G MEF2C myocyte enhancer factor 2C IAGP HPO OMIM:613443 NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO OMIM:249000 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP DNA:frameshift mutations, missense mutation, splice-site mutation:multiple HPO
RGD
PMID:11950863 OMIM:311200 ORPHA:2750 ORPHA:2754, RGD:11535958 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO ORPHA:2754 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272
JBrowse link
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
G TCTN3 tectonic family member 3 IAGP HPO OMIM:258860 OMIM:614815 ORPHA:2754 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO ORPHA:2754 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:2752 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP HPO ORPHA:2754 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586
JBrowse link
Macroglossia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 IAGP HPO ORPHA:99886 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
JBrowse link
G ACTB actin beta IAGP HPO ORPHA:79107 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
JBrowse link
G AFF4 ALF transcription elongation factor 4 IAGP HPO ORPHA:444077 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
JBrowse link
G AGA aspartylglucosaminidase IAGP HPO OMIM:208400 ORPHA:93 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437
JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP HPO ORPHA:528 NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457
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 AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:201 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO ORPHA:79321 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548
JBrowse link
G ALG6 ALG6 alpha-1,3-glucosyltransferase IAGP HPO ORPHA:79320 NCBI chr 1:63,367,627...63,438,553
Ensembl chr 1:63,367,575...63,438,553
JBrowse link
G ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP HPO ORPHA:79325 NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660
JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 IAGP HPO OMIM:615809 NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051
JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP HPO OMIM:614607 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ARSB arylsulfatase B IAGP HPO OMIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087
JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO OMIM:616455 ORPHA:3473 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 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 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO ORPHA:528 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
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 CAV1 caveolin 1 IAGP HPO ORPHA:528 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CAVIN1 caveolae associated protein 1 IAGP HPO ORPHA:528 NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256
JBrowse link
G CCDC47 coiled-coil domain containing 47 IAGP HPO OMIM:618268 NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
JBrowse link
G CDCA7 cell division cycle associated 7 IAGP HPO ORPHA:2268 NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO OMIM:130650 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
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 CPSF3 cleavage and polyadenylation specific factor 3 IAGP HPO OMIM:619876 NCBI chr 2:9,423,654...9,473,101
Ensembl chr 2:9,423,651...9,473,101
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO OMIM:616052 ORPHA:352479 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G CUL4B cullin 4B IAGP HPO OMIM:300354 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:254528 ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
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 DNMT3B DNA methyltransferase 3 beta IAGP HPO OMIM:242860 ORPHA:2268 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP ClinVar Annotator: match by term: Macroglossia 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 DUOX2 dual oxidase 2 IAGP HPO ORPHA:226316 ORPHA:95716 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172
JBrowse link
G DUOXA2 dual oxidase maturation factor 2 IAGP HPO ORPHA:95716 NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421
JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO OMIM:180700 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
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 ERLIN2 ER lipid raft associated 2 IAGP HPO ORPHA:209951 ORPHA:280384 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
JBrowse link
G FDX2 ferredoxin 2 IAGP HPO OMIM:251900 NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,309,916...10,316,015
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 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 OMIM:606612 OMIM:607155 ORPHA:370959 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit IAGP HPO ORPHA:528 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
JBrowse link
G FOXE1 forkhead box E1 IAGP HPO ORPHA:95713 NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717
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 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 GAA alpha glucosidase IAGP HPO OMIM:232300 ORPHA:308552 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881
JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO ORPHA:79255 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370959 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO OMIM:269921 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO OMIM:252500 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP ClinVar Annotator: match by term: Macroglossia 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 GPC3 glypican 3 IAGP HPO OMIM:312870 ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100
JBrowse link
G GPC4 glypican 4 IAGP HPO OMIM:312870 ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
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 GUSB glucuronidase beta IAGP HPO OMIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP HPO OMIM:130650 NCBI chr11:1,998,202...2,003,509 JBrowse link
G HELLS helicase, lymphoid specific IAGP HPO ORPHA:2268 NCBI chr10:94,545,788...94,613,905
Ensembl chr10:94,545,329...94,613,905
JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
JBrowse link
G HEXB hexosaminidase subunit beta IAGP HPO OMIM:268800 NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647
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 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 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 HYMAI hydatidiform mole associated and imprinted IAGP HPO ORPHA:96191 ORPHA:99886 NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262
JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO OMIM:309900 ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096
JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO OMIM:607014 ORPHA:93473 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO OMIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO OMIM:130650 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO OMIM:618523 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO OMIM:213300 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G INSR insulin receptor IAGP HPO ORPHA:769 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G IPO8 importin 8 IAGP HPO OMIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
JBrowse link
G IYD iodotyrosine deiodinase IAGP HPO ORPHA:95716 NCBI chr 6:150,369,012...150,405,969
Ensembl chr 6:150,368,892...150,405,969
JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO ORPHA:3473 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:99886 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP HPO OMIM:618729 ORPHA:3473 NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP HPO ORPHA:3473 NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO OMIM:130650 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP HPO OMIM:130650 NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003
JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO ORPHA:201 NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533
JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO ORPHA:258 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO OMIM:608840 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO ORPHA:226307 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:226307 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
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 LIMS2 LIM zinc finger domain containing 2 IAGP HPO OMIM:616827 NCBI chr 2:127,638,426...127,681,786
Ensembl chr 2:127,638,381...127,681,786
JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO OMIM:248500 ORPHA:309282 ORPHA:309288 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742
JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 IAGP HPO OMIM:619775 NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,612
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 MED13L mediator complex subunit 13L IAGP HPO OMIM:616789 ORPHA:369891 NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693
JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:254528 ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
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 MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP HPO ORPHA:254864 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742
JBrowse link
G 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 NEK9 NIMA related kinase 9 IAGP HPO OMIM:617022 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344
JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP HPO ORPHA:95713 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO ORPHA:95712 ORPHA:95713 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP ClinVar Annotator: match by term: Macroglossia ClinVar PMID:25741868 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G PAX8 paired box 8 IAGP HPO OMIM:218700 ORPHA:95712 ORPHA:95713 ORPHA:95720 NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921
JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO OMIM:214100 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
JBrowse link
G PIGS phosphatidylinositol glycan anchor biosynthesis class S IAGP HPO OMIM:618143 NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794
JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W IAGP HPO OMIM:616025 NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310
JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO OMIM:618440 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:201 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP HPO ORPHA:96191 ORPHA:99886 NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:370959 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:370959 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 OMIM:613155 ORPHA:370959 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 OMIM:613150 OMIM:613156 ORPHA:370959 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit IAGP HPO OMIM:617396 NCBI chr 8:98,117,293...98,159,835
Ensembl chr 8:98,117,293...98,159,835
JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO OMIM:613038 ORPHA:226307 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO ORPHA:528 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP HPO ORPHA:93947 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP HPO OMIM:261740 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
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 PTEN phosphatase and tensin homolog IAGP HPO ORPHA:201 ORPHA:65285 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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 RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO OMIM:607095 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G RNF125 ring finger protein 125 IAGP HPO OMIM:616260 NCBI chr18:32,018,825...32,088,144
Ensembl chr18:32,018,825...32,073,219
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO OMIM:268310 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:254528 ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:201 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,032
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:201 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:201 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO ORPHA:201 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415
JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO OMIM:269150 ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
JBrowse link
G SGCG sarcoglycan gamma IAGP HPO ORPHA:353 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP HPO ORPHA:95713 ORPHA:95720 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809
JBrowse link
G SLC5A5 solute carrier family 5 member 5 IAGP HPO OMIM:274400 ORPHA:95716 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP HPO OMIM:614609 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 OMIM:614608 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
G SNIP1 Smad nuclear interacting protein 1 IAGP HPO OMIM:614501 NCBI chr 1:37,534,449...37,554,293
Ensembl chr 1:37,534,449...37,554,293
JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO OMIM:105830 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
JBrowse link
G SNX14 sorting nexin 14 IAGP HPO OMIM:616354 ORPHA:397709 NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156
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 TAOK1 TAO kinase 1 IAGP ClinVar Annotator: match by term: Macroglossia ClinVar PMID:25741868 NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903
JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO OMIM:616900 ORPHA:488632 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683
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 TG thyroglobulin IAGP HPO ORPHA:95716 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903
JBrowse link
G THRA thyroid hormone receptor alpha IAGP HPO OMIM:614450 NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867
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 TPO thyroid peroxidase IAGP HPO ORPHA:95716 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711
JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 IAGP HPO OMIM:615527 NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP HPO ORPHA:254864 NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340
JBrowse link
G TSHB thyroid stimulating hormone subunit beta IAGP HPO OMIM:275100 ORPHA:90674 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302
JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP HPO ORPHA:90673 ORPHA:95713 ORPHA:95720 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306
JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP HPO OMIM:105830 NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051
JBrowse link
G USF3 upstream transcription factor family member 3 IAGP HPO ORPHA:201 NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646
JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO OMIM:617303 ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,494
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 WNT5A Wnt family member 5A IAGP HPO OMIM:180700 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
JBrowse link
G ZBTB24 zinc finger and BTB domain containing 24 IAGP HPO ORPHA:2268 NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239
JBrowse link
G ZFP57 ZFP57 zinc finger protein IAGP HPO ORPHA:99886 NCBI chr 6:29,672,392...29,681,152
Ensembl chr 6:29,672,483...29,681,155
JBrowse link
Microglossia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 CHN1 chimerin 1 IAGP ClinVar Annotator: match by term: Underdevelopment of the tongue ClinVar PMID:25741868 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO OMIM:270400 ORPHA:818 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
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 EDN1 endothelin 1 IAGP HPO ORPHA:137888 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO OMIM:146510 ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GNAI3 G protein subunit alpha i3 IAGP HPO ORPHA:137888 NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195
JBrowse link
G KIF1A kinesin family member 1A IAGP ClinVar Annotator: match by term: Microglossia ClinVar PMID:25741868 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
JBrowse link
G LMNB2 lamin B2 IAGP HPO OMIM:616540 NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959
JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO OMIM:254940 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612
JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO OMIM:263520 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:990 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
JBrowse link
G PLCB4 phospholipase C beta 4 IAGP HPO OMIM:614669 ORPHA:137888 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593
JBrowse link
G PRRX1 paired related homeobox 1 IAGP HPO OMIM:202650 ORPHA:990 NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421
JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO OMIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO OMIM:606744 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO OMIM:241800 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO OMIM:260660 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556
JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO OMIM:253250 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Microglossia ClinVar PMID:10521293 PMID:17568405 PMID:18700423 PMID:20888932 PMID:25741868 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
JBrowse link
Movement abnormality of the tongue term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTPAP mitochondrial poly(A) polymerase IAGP HPO ORPHA:254343 NCBI chr10:30,309,801...30,349,278
Ensembl chr10:30,309,801...30,374,448
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:254881 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP HPO ORPHA:98805 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848
JBrowse link
Neoplasm of the tongue term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G BAP1 BRCA1 associated protein 1 IAGP HPO ORPHA:2495 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G CASP10 caspase 10 IAGP HPO ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand IAGP HPO ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO ORPHA:477 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G GJB6 gap junction protein beta 6 IAGP HPO ORPHA:477 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365
JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO ORPHA:3047 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598
JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PRKCD protein kinase C delta IAGP HPO ORPHA:3261 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO ORPHA:3261 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO ORPHA:2495 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO ORPHA:2495 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO ORPHA:2495 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:2495 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:2495 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO ORPHA:2495 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
JBrowse link
Parageusia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 IAGP HPO ORPHA:33543 NCBI chr 3:36,826,819...36,945,744
Ensembl chr 3:36,826,819...36,945,057
JBrowse link
Protruding tongue term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG1 adhesion G protein-coupled receptor G1 IAGP HPO ORPHA:98889 NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580
JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO OMIM:301040 OMIM:309580 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO OMIM:300963 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520
JBrowse link
G CDCA7 cell division cycle associated 7 IAGP HPO ORPHA:2268 NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997
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 COG7 component of oligomeric golgi complex 7 IAGP HPO OMIM:608779 NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189
JBrowse link
G CSNK2A1 casein kinase 2 alpha 1 IAGP HPO OMIM:617062 NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835
JBrowse link
G CSNK2B casein kinase 2 beta IAGP HPO OMIM:618732 NCBI chr 6:31,666,080...31,670,067
Ensembl chr 6:31,665,227...31,670,343
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 DNM1 dynamin 1 IAGP HPO OMIM:620352 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248
JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP HPO OMIM:242860 ORPHA:2268 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
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 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 FBXO28 F-box protein 28 IAGP HPO OMIM:619777 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047
JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IAGP HPO OMIM:612938 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO OMIM:230600 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 IAGP HPO OMIM:619580 NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622
JBrowse link
G HELLS helicase, lymphoid specific IAGP HPO ORPHA:2268 NCBI chr10:94,545,788...94,613,905
Ensembl chr10:94,545,329...94,613,905
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO OMIM:213300 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G KIF7 kinesin family member 7 IAGP HPO OMIM:200990 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO ORPHA:258 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
JBrowse link
G LMNB1 lamin B1 IAGP HPO OMIM:619179 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
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 NEU1 neuraminidase 1 IAGP HPO ORPHA:93399 ORPHA:93400 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905
JBrowse link
G NFIX nuclear factor I X IAGP HPO ORPHA:561 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
JBrowse link
G NRXN1 neurexin 1 IAGP HPO OMIM:614325 NCBI chr 2:49,918,503...51,032,132
Ensembl chr 2:49,918,503...51,225,575
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:98794 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO OMIM:214100 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO ORPHA:98889 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B IAGP HPO OMIM:618580 NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:50945 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 IAGP HPO OMIM:618797 NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304
JBrowse link
G SET SET nuclear proto-oncogene IAGP HPO OMIM:618106 NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400
JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO OMIM:612289 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP HPO ORPHA:99843 NCBI chr11:45,804,072...45,813,016
Ensembl chr11:45,804,072...45,813,016
JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO OMIM:105830 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 IAGP HPO ORPHA:98889 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788
JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO ORPHA:53351 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,222...71,532,374
JBrowse link
G TPO thyroid peroxidase IAGP ClinVar Annotator: match by term: Tongue sticking out of mouth ClinVar PMID:25741868 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711
JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO OMIM:200600 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896
JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP HPO OMIM:105830 ORPHA:411511 ORPHA:98794 ORPHA:98795 NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051
JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537
JBrowse link
G ZBTB24 zinc finger and BTB domain containing 24 IAGP HPO ORPHA:2268 NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239
JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO OMIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
JBrowse link
Smooth tongue term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO ORPHA:3206 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:79396 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79396 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO OMIM:601559 ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO OMIM:257980 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
Squamous cell carcinoma of the tongue term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MDM4 MDM4 regulator of p53 IAGP HPO OMIM:618849 NCBI chr 1:204,516,406...204,558,120
Ensembl chr 1:204,516,379...204,558,120
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO OMIM:613988 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
JBrowse link
Tongue atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANG angiogenin IAGP HPO ORPHA:803 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
JBrowse link
G ANXA11 annexin A11 IAGP HPO ORPHA:803 NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572
JBrowse link
G ATXN2 ataxin 2 IAGP HPO ORPHA:803 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
JBrowse link
G CCNF cyclin F IAGP HPO ORPHA:803 NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854
JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP HPO ORPHA:803 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402
JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO ORPHA:803 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972
JBrowse link
G CHMP2B charged multivesicular body protein 2B IAGP HPO ORPHA:803 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556
JBrowse link
G DAO D-amino acid oxidase IAGP HPO ORPHA:803 NCBI chr12:108,880,092...108,901,043
Ensembl chr12:108,858,932...108,901,043
JBrowse link
G DCTN1 dynactin subunit 1 IAGP HPO ORPHA:803 NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087
JBrowse link
G DOK7 docking protein 7 IAGP HPO OMIM:254300 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473
JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP HPO OMIM:615065 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834
JBrowse link
G EPHA4 EPH receptor A4 IAGP HPO ORPHA:803 NCBI chr 2:221,418,027...221,574,202
Ensembl chr 2:221,418,027...221,574,202
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 IAGP HPO ORPHA:803 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
JBrowse link
G EXOSC3 exosome component 3 IAGP HPO OMIM:614678 NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:803 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G FRG1 FSHD region gene 1 IAGP HPO OMIM:158900 NCBI chr 4:189,940,872...189,963,192
Ensembl chr 4:189,940,855...189,963,202
JBrowse link
G FUS FUS RNA binding protein IAGP HPO ORPHA:803 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,191,605
JBrowse link
G GLE1 GLE1 RNA export mediator IAGP HPO ORPHA:803 NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874
JBrowse link
G GLT8D1 glycosyltransferase 8 domain containing 1 IAGP HPO ORPHA:803 NCBI chr 3:52,694,486...52,705,791
Ensembl chr 3:52,694,486...52,706,032
JBrowse link
G GSN gelsolin IAGP HPO ORPHA:85448 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP HPO ORPHA:803 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088
JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 IAGP HPO OMIM:616155 NCBI chr11:68,903,891...68,940,601
Ensembl chr11:68,903,863...68,940,602
JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO OMIM:617114 ORPHA:496689 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636
JBrowse link
G MATR3 matrin 3 IAGP HPO ORPHA:803 NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671
JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO ORPHA:466768 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774
JBrowse link
G NEFH neurofilament heavy chain IAGP HPO ORPHA:803 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
JBrowse link
G NEFL neurofilament light chain IAGP HPO ORPHA:101085 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO ORPHA:803 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
JBrowse link
G NOP56 NOP56 ribonucleoprotein IAGP HPO OMIM:614153 ORPHA:276198 NCBI chr20:2,652,632...2,658,393
Ensembl chr20:2,652,593...2,658,393
JBrowse link
G OPTN optineurin IAGP HPO OMIM:613435 ORPHA:803 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308
JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO ORPHA:216873 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887
JBrowse link
G PFN1 profilin 1 IAGP HPO ORPHA:803 NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061
JBrowse link
G PON1 paraoxonase 1 IAGP HPO ORPHA:803 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PON2 paraoxonase 2 IAGP HPO ORPHA:803 NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329
JBrowse link
G PON3 paraoxonase 3 IAGP HPO ORPHA:803 NCBI chr 7:95,359,872...95,396,375
Ensembl chr 7:95,359,872...95,396,375
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha IAGP HPO ORPHA:803 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PRPH peripherin IAGP HPO ORPHA:803 NCBI chr12:49,295,147...49,298,686
Ensembl chr12:49,295,147...49,298,686
JBrowse link
G SBF2 SET binding factor 2 IAGP HPO ORPHA:99956 NCBI chr11:9,778,668...10,303,837
Ensembl chr11:9,776,776...10,304,877
JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP HPO OMIM:601596 ORPHA:99949 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163
JBrowse link
G SLC52A3 solute carrier family 52 member 3 IAGP HPO OMIM:211530 NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015
JBrowse link
G SOD1 superoxide dismutase 1 IAGP HPO ORPHA:803 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO OMIM:620285 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413
JBrowse link
G SQSTM1 sequestosome 1 IAGP HPO ORPHA:803 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078
JBrowse link
G TAF15 TATA-box binding protein associated factor 15 IAGP HPO ORPHA:803 NCBI chr17:35,809,484...35,847,242
Ensembl chr17:35,809,482...35,864,615
JBrowse link
G TARDBP TAR DNA binding protein IAGP HPO ORPHA:803 NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528
JBrowse link
G TBK1 TANK binding kinase 1 IAGP HPO ORPHA:803 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114
JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO ORPHA:803 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
JBrowse link
G UBQLN2 ubiquilin 2 IAGP HPO ORPHA:803 NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868
JBrowse link
G UNC13A unc-13 homolog A IAGP HPO ORPHA:803 NCBI chr19:17,601,336...17,688,354
Ensembl chr19:17,601,336...17,688,365
JBrowse link
G VAPB VAMP associated protein B and C IAGP HPO ORPHA:803 NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101
JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:803 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
JBrowse link
Tongue edema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPING1 serpin family G member 1 IAGP HPO ORPHA:100050 NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
JBrowse link
G XPNPEP2 X-prolyl aminopeptidase 2 IAGP HPO ORPHA:100057 NCBI chr  X:129,738,979...129,769,536
Ensembl chr  X:129,738,949...129,769,536
JBrowse link
Tongue fasciculations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADPRS ADP-ribosylserine hydrolase IAGP HPO OMIM:618170 NCBI chr 1:36,088,892...36,093,932
Ensembl chr 1:36,088,892...36,093,932
JBrowse link
G AGTPBP1 ATP/GTP binding carboxypeptidase 1 IAGP HPO OMIM:618276 ORPHA:2254 NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO OMIM:300816 ORPHA:238329 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO OMIM:159950 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G ATP11A ATPase phospholipid transporting 11A IAGP HPO OMIM:619851 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO ORPHA:569 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:569 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO ORPHA:276435 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972
JBrowse link
G EGR2 early growth response 2 IAGP HPO OMIM:145900 NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,819,167
JBrowse link
G EXOSC3 exosome component 3 IAGP HPO OMIM:614678 ORPHA:2254 NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117
JBrowse link
G EXOSC8 exosome component 8 IAGP HPO OMIM:616081 ORPHA:2254 NCBI chr13:37,000,786...37,009,614
Ensembl chr13:36,998,816...37,025,881
JBrowse link
G EXOSC9 exosome component 9 IAGP HPO OMIM:618065 ORPHA:2254 NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021
JBrowse link
G FXR1 FMR1 autosomal homolog 1 IAGP HPO OMIM:618822 OMIM:618823 NCBI chr 3:180,912,670...180,982,753
Ensembl chr 3:180,868,141...180,982,753
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 LGI3 leucine rich repeat LGI family member 3 IAGP HPO OMIM:620007 NCBI chr 8:22,146,830...22,156,806
Ensembl chr 8:22,146,830...22,157,084
JBrowse link
G MEGF10 multiple EGF like domains 10 IAGP HPO OMIM:614399 NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737
JBrowse link
G MPZ myelin protein zero IAGP HPO OMIM:145900 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968
JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO OMIM:252010 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338
JBrowse link
G NOP56 NOP56 ribonucleoprotein IAGP HPO OMIM:614153 ORPHA:276198 NCBI chr20:2,652,632...2,658,393
Ensembl chr20:2,652,593...2,658,393
JBrowse link
G OPTN optineurin IAGP HPO OMIM:613435 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308
JBrowse link
G PMP22 peripheral myelin protein 22 IAGP ClinVar Annotator: match by term: Twitching of the tongue ClinVar
HPO
PMID:25741868 OMIM:145900 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292
JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:569 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892
JBrowse link
G PRUNE1 prune exopolyphosphatase 1 IAGP HPO ORPHA:544469 NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713
JBrowse link
G PRX periaxin IAGP HPO OMIM:145900 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793
JBrowse link
G RMND1 required for meiotic nuclear division 1 homolog IAGP HPO OMIM:614922 NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO ORPHA:569 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP HPO OMIM:601596 ORPHA:99949 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163
JBrowse link
G SLC25A21 solute carrier family 25 member 21 IAGP HPO OMIM:618811 NCBI chr14:36,677,921...37,172,606
Ensembl chr14:36,677,921...37,172,606
JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP HPO ORPHA:2254 NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161
JBrowse link
G SLC52A2 solute carrier family 52 member 2 IAGP HPO OMIM:614707 NCBI chr 8:144,358,552...144,361,272
Ensembl chr 8:144,333,957...144,361,286
JBrowse link
G SLC52A3 solute carrier family 52 member 3 IAGP HPO OMIM:211530 NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015
JBrowse link
G SMN1 survival of motor neuron 1, telomeric IAGP HPO OMIM:253300 OMIM:253400 OMIM:253550 OMIM:271150 NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942
JBrowse link
G SMN2 survival of motor neuron 2, centromeric IAGP HPO OMIM:253400 NCBI chr 5:70,049,523...70,090,528
Ensembl chr 5:70,049,638...70,078,522
Ensembl chr 5:70,049,638...70,078,522
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO OMIM:162400 OMIM:620285 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413
JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO OMIM:619461 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
JBrowse link
G TBCD tubulin folding cofactor D IAGP HPO OMIM:617193 NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914
JBrowse link
G TOE1 target of EGR1, exonuclease IAGP HPO OMIM:614969 NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973
JBrowse link
G TSPYL1 TSPY like 1 IAGP HPO OMIM:608800 NCBI chr 6:116,274,858...116,279,930
Ensembl chr 6:116,267,760...116,279,930
JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO OMIM:301830 ORPHA:1145 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128
JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:329475 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO OMIM:607596 ORPHA:2254 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846
JBrowse link
G VWA1 von Willebrand factor A domain containing 1 IAGP HPO OMIM:619216 NCBI chr 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882
JBrowse link
Tongue nodules term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO OMIM:277170 ORPHA:2754 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
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 FAM149B1 family with sequence similarity 149 member B1 IAGP HPO ORPHA:2754 NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504
JBrowse link
G KIAA0753 KIAA0753 IAGP HPO ORPHA:2754 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:2754 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
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 OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO OMIM:311200 ORPHA:2750 ORPHA:2754 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339
JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO ORPHA:2754 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1359 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G RBM10 RNA binding motif protein 10 IAGP HPO OMIM:311900 ORPHA:2886 NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813
JBrowse link
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
G TCTN3 tectonic family member 3 IAGP HPO OMIM:258860 ORPHA:2754 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO ORPHA:2754 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP HPO ORPHA:2754 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586
JBrowse link
Tongue pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO ORPHA:642 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
JBrowse link
Tongue telangiectasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 IAGP HPO OMIM:600376 ORPHA:774 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G ENG endoglin IAGP HPO OMIM:187300 ORPHA:774 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G GDF2 growth differentiation factor 2 IAGP HPO ORPHA:774 NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:774 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
JBrowse link
Triangular tongue term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIMS2 LIM zinc finger domain containing 2 IAGP HPO OMIM:616827 NCBI chr 2:127,638,426...127,681,786
Ensembl chr 2:127,638,381...127,681,786
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21509
    Phenotypic abnormality 21500
      Abnormality of head or neck 3544
        Abnormality of the head 3516
          Abnormality of the face 3122
            Abnormality of the mouth 2429
              Abnormality of the tongue 474
                Abnormal tongue morphology + 384
                Abnormal tongue physiology + 66
                Neoplasm of the tongue + 44
                Tongue edema 2
paths to the root