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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormal oral physiology
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Accession:HP:0031815 term browser browse the term
Definition:A functional anomaly of the mouth (which is also known as the oral cavity).
Comment:The physiological functions of the mouth include salivary gland secretory function, mastication (chewing) and preparation of food for swallowing.


show annotations for term's descendants           Sort by:
Abnormality of salivation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPING1 serpin family G member 1 IAGP ORPHA:100050 HPO NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171 		JBrowse link
Drooling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG1 adhesion G protein-coupled receptor G1 IAGP ORPHA:98889 HPO NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP OMIM:205100 HPO NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G ANXA11 annexin A11 IAGP OMIM:619733 HPO NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572 		JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 IAGP ORPHA:280763 HPO NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,201 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP OMIM:613744 ORPHA:280763 HPO NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895 		JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP OMIM:612936 ORPHA:280763 HPO NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,101,549...100,110,345 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP ORPHA:280763 HPO NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP DNA:frameshift,nonsense mutations, haploinsufficiency:cds: RGD PMID:24674232 RGD:11526783 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARX aristaless related homeobox IAGP OMIM:300419 HPO NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ATP10A ATPase phospholipid transporting 10A (putative) IAGP ORPHA:411515 HPO NCBI chr15:25,672,237...25,865,088
Ensembl chr15:25,677,273...25,865,184 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP OMIM:128235 OMIM:619606 ORPHA:71517 HPO NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP ORPHA:93952 HPO NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP OMIM:277900 HPO NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP OMIM:309580 HPO NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BCORL1 BCL6 corepressor like 1 IAGP OMIM:301029 HPO NCBI chr  X:129,980,313...130,058,071
Ensembl chr  X:129,981,107...130,058,071 		JBrowse link
G CACNA1I calcium voltage-gated channel subunit alpha1 I IAGP OMIM:620114 HPO NCBI chr22:39,570,753...39,689,735
Ensembl chr22:39,570,753...39,689,735 		JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 IAGP OMIM:614756 HPO NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706 		JBrowse link
G CERT1 ceramide transporter 1 IAGP OMIM:616351 HPO NCBI chr 5:75,368,486...75,511,981
Ensembl chr 5:75,356,345...75,512,138 		JBrowse link
G CHAMP1 chromosome alignment maintaining phosphoprotein 1 IAGP OMIM:616579 HPO NCBI chr13:114,314,503...114,327,322
Ensembl chr13:114,314,482...114,337,626 		JBrowse link
G CLDN11 claudin 11 IAGP OMIM:619328 HPO NCBI chr 3:170,418,868...170,434,691
Ensembl chr 3:170,418,868...170,454,733 		JBrowse link
G DEAF1 DEAF1 transcription factor IAGP ORPHA:468620 HPO NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase IAGP OMIM:245348 HPO NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,408...112,064,404 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:96334 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DNM1L dynamin 1 like IAGP OMIM:614388 HPO NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G EIF2S3 eukaryotic translation initiation factor 2 subunit gamma IAGP OMIM:300148 HPO NCBI chr  X:24,054,956...24,078,810
Ensembl chr  X:24,054,946...24,078,810 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP ORPHA:508533 HPO NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G FBLN1 fibulin 1 IAGP ORPHA:404451 HPO NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135 		JBrowse link
G FBXO28 F-box protein 28 IAGP OMIM:619777 HPO NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047 		JBrowse link
G FOXG1 forkhead box G1 IAGP OMIM:613454 HPO NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G FOXP1 forkhead box P1 IAGP OMIM:613670 HPO NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G FOXP2 forkhead box P2 IAGP ORPHA:209908 HPO NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 IAGP OMIM:617904 HPO NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 IAGP ORPHA:33069 HPO NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP ORPHA:1945 HPO NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP OMIM:618397 HPO NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP OMIM:252940 HPO NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G GPT2 glutamic--pyruvic transaminase 2 IAGP OMIM:616281 ORPHA:477673 HPO NCBI chr16:46,884,362...46,931,289
Ensembl chr16:46,884,362...46,931,289 		JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 IAGP OMIM:619580 HPO NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP ORPHA:163721 ORPHA:1945 HPO NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,182,928 		JBrowse link
G HDAC4 histone deacetylase 4 IAGP OMIM:619797 HPO NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP ORPHA:457359 HPO NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G HIVEP2 HIVEP zinc finger 2 IAGP OMIM:616977 HPO NCBI chr 6:142,751,469...142,946,365
Ensembl chr 6:142,751,469...142,956,698 		JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 IAGP OMIM:300986 HPO NCBI chr  X:101,408,222...101,414,133
Ensembl chr  X:101,408,222...101,414,133 		JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like IAGP OMIM:619026 HPO NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710 		JBrowse link
G KCNC2 potassium voltage-gated channel subfamily C member 2 IAGP OMIM:619913 HPO NCBI chr12:75,040,078...75,209,839
Ensembl chr12:75,040,077...75,209,839 		JBrowse link
G KIF15 kinesin family member 15 IAGP ORPHA:261323 HPO NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376 		JBrowse link
G LMNB2 lamin B2 IAGP OMIM:619180 HPO NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959 		JBrowse link
G MBD5 methyl-CpG binding domain protein 5 IAGP OMIM:156200 HPO NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP OMIM:300055 OMIM:300260 HPO NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MED12 mediator complex subunit 12 IAGP ORPHA:93932 HPO NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MED27 mediator complex subunit 27 IAGP OMIM:619286 HPO NCBI chr 9:131,860,112...132,079,867
Ensembl chr 9:131,852,928...132,079,867 		JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:96334 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease IAGP ORPHA:251347 HPO NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885 		JBrowse link
G NAA20 N-alpha-acetyltransferase 20, NatB catalytic subunit IAGP OMIM:619717 HPO NCBI chr20:20,017,290...20,033,655
Ensembl chr20:20,017,310...20,033,655 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP OMIM:616266 HPO NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NAXD NAD(P)HX dehydratase IAGP OMIM:618321 HPO NCBI chr13:110,615,460...110,639,996
Ensembl chr13:110,615,545...110,639,996 		JBrowse link
G NEXMIF neurite extension and migration factor IAGP OMIM:300912 HPO NCBI chr  X:74,732,856...74,925,452
Ensembl chr  X:74,732,856...74,925,472 		JBrowse link
G NFIX nuclear factor I X IAGP OMIM:602535 HPO NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP OMIM:300967
DNA:nonsense mutation, silent mutation, frameshift mutation:CDS:p.R365*, p.A377A, p.N466Kfs*13		 HPO
RGD		 PMID:26571461 RGD:11058183 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G NRXN1 neurexin 1 IAGP OMIM:614325 HPO NCBI chr 2:49,918,503...51,032,132
Ensembl chr 2:49,918,503...51,225,575 		JBrowse link
G NTNG2 netrin G2 IAGP OMIM:618718 HPO NCBI chr 9:132,161,689...132,244,526
Ensembl chr 9:132,162,058...132,244,526 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP ORPHA:98794 HPO NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G PAK3 p21 (RAC1) activated kinase 3 IAGP OMIM:300558 HPO NCBI chr  X:110,944,397...111,227,361
Ensembl chr  X:110,944,285...111,227,361 		JBrowse link
G PCDH19 protocadherin 19 IAGP ORPHA:33069 HPO NCBI chr  X:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,273 		JBrowse link
G PCGF2 polycomb group ring finger 2 IAGP OMIM:618371 HPO NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817 		JBrowse link
G PDE10A phosphodiesterase 10A IAGP OMIM:616921 ORPHA:494526 HPO NCBI chr 6:165,327,289...165,988,052
Ensembl chr 6:165,327,287...165,988,117 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP ORPHA:98889 HPO NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP ORPHA:35069 HPO NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP ORPHA:98916 HPO NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP OMIM:607694 ORPHA:447896 HPO NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POLR3B RNA polymerase III subunit B IAGP OMIM:607694 HPO NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G POU3F3 POU class 3 homeobox 3 IAGP OMIM:618604 HPO NCBI chr 2:104,854,115...104,858,574
Ensembl chr 2:104,853,287...104,858,574 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP OMIM:301835 HPO NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G RSRC1 arginine and serine rich coiled-coil 1 IAGP OMIM:618402 HPO NCBI chr 3:158,110,089...158,545,730
Ensembl chr 3:158,105,855...158,545,730 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:96334 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G SATB1 SATB homeobox 1 IAGP OMIM:619229 HPO NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621 		JBrowse link
G SATB2 SATB homeobox 2 IAGP ORPHA:251028 HPO NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ORPHA:33069 HPO NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ORPHA:33069 HPO NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ORPHA:33069 HPO NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ORPHA:33069 HPO NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G SETD5 SET domain containing 5 IAGP OMIM:615761 HPO NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP ORPHA:99949 HPO NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163 		JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 IAGP OMIM:619121 HPO NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,229,573...57,234,935 		JBrowse link
G SLC16A2 solute carrier family 16 member 2 IAGP OMIM:300523 HPO NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 IAGP OMIM:616657 HPO NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 IAGP OMIM:612949 HPO NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP OMIM:300243 HPO NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP OMIM:601358 HPO NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP OMIM:105830 HPO NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G SPART spartin IAGP OMIM:275900 HPO NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180 		JBrowse link
G SPEN spen family transcriptional repressor IAGP OMIM:619312 HPO NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP OMIM:619475 HPO NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,317...54,671,446 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 IAGP ORPHA:163721 ORPHA:1945 ORPHA:98889 HPO NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788 		JBrowse link
G STRADA STE20 related adaptor alpha IAGP ORPHA:500533 HPO NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP OMIM:612621 HPO NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP OMIM:616878 HPO NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164 		JBrowse link
G TASP1 taspase 1 IAGP OMIM:618950 HPO NCBI chr20:13,104,772...13,638,932
Ensembl chr20:13,389,392...13,638,932 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP OMIM:188400 HPO NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TCF4 transcription factor 4 IAGP ClinVar Annotator: match by term: Sialorrhea ClinVar PMID:25741868 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP OMIM:610031 HPO NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP OMIM:105830 ORPHA:411511 ORPHA:411515 ORPHA:98794 HPO NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP OMIM:617054 HPO NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP OMIM:200150 HPO NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
G ZBTB11 zinc finger and BTB domain containing 11 IAGP OMIM:618383 HPO NCBI chr 3:101,648,889...101,677,132
Ensembl chr 3:101,648,889...101,677,135 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP OMIM:314580 HPO NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP OMIM:235730 HPO NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
Excessive salivation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXG1 forkhead box G1 IAGP ORPHA:261144 HPO NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP OMIM:233910 HPO NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP ORPHA:36426 HPO NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP ORPHA:36426 HPO NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101 		JBrowse link
G KIF7 kinesin family member 7 IAGP OMIM:200990 HPO NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP OMIM:300055 HPO NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G PTS 6-pyruvoyltetrahydropterin synthase IAGP OMIM:261640 ORPHA:13 HPO NCBI chr11:112,226,428...112,233,973
Ensembl chr11:112,226,367...112,269,955 		JBrowse link
G QDPR quinoid dihydropteridine reductase IAGP OMIM:261630 HPO NCBI chr 4:17,486,395...17,512,090
Ensembl chr 4:17,460,261...17,512,206 		JBrowse link
G SLC12A5 solute carrier family 12 member 5 IAGP OMIM:616645 HPO NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150 		JBrowse link
G TH tyrosine hydroxylase IAGP ORPHA:101150 HPO NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
G TSPOAP1 TSPO associated protein 1 IAGP ORPHA:101150 HPO NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		JBrowse link
Halitosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator IAGP ORPHA:60033 HPO NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G MAT1A methionine adenosyltransferase 1A IAGP OMIM:250850 HPO NCBI chr10:80,271,820...80,289,658
Ensembl chr10:80,271,820...80,289,658 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP ORPHA:60033 HPO NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta IAGP ORPHA:60033 HPO NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294 		JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma IAGP ORPHA:60033 HPO NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883 		JBrowse link
G SELENBP1 selenium binding protein 1 IAGP OMIM:618148 HPO NCBI chr 1:151,364,304...151,372,705
Ensembl chr 1:151,364,304...151,372,707 		JBrowse link
Impaired mastication term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP ORPHA:2020 HPO NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP ORPHA:404448 HPO NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G ADSS1 adenylosuccinate synthase 1 IAGP ORPHA:482601 HPO NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,229...104,747,325 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP OMIM:607225 ORPHA:293168 HPO NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G AXIN2 axin 2 IAGP ORPHA:99798 HPO NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP OMIM:601462 HPO NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP ORPHA:98915 HPO NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751 		JBrowse link
G EDA ectodysplasin A IAGP ORPHA:99798 HPO NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472 		JBrowse link
G EDARADD EDAR associated via death domain IAGP ORPHA:99798 HPO NCBI chr 1:236,394,286...236,484,930
Ensembl chr 1:236,348,257...236,502,915 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP ORPHA:466722 HPO NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ORPHA:99798 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G GNAI3 G protein subunit alpha i3 IAGP OMIM:602483 HPO NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP ORPHA:208447 HPO NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G H4C5 H4 clustered histone 5 IAGP OMIM:619950 HPO NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP ORPHA:2020 HPO NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP ORPHA:397 HPO 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 ORPHA:397 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HOXB1 homeobox B1 IAGP OMIM:614744 HPO NCBI chr17:48,528,526...48,531,011
Ensembl chr17:48,528,526...48,531,011 		JBrowse link
G IDS iduronate 2-sulfatase IAGP ORPHA:217085 HPO NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IRF6 interferon regulatory factor 6 IAGP ORPHA:99798 HPO NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175 		JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP ORPHA:2020 HPO NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP ORPHA:363958 HPO NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP ORPHA:258 HPO NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ORPHA:98915 HPO NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LPIN1 lipin 1 IAGP ORPHA:99845 HPO NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409 		JBrowse link
G LRP6 LDL receptor related protein 6 IAGP ORPHA:99798 HPO NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP ORPHA:2020 HPO NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MSX1 msh homeobox 1 IAGP ORPHA:99798 HPO NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP ORPHA:99845 HPO NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP ORPHA:99845 HPO NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP ORPHA:254930 HPO NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G MYL2 myosin light chain 2 IAGP ORPHA:2020 HPO NCBI chr12:110,910,845...110,920,579
Ensembl chr12:110,910,819...110,921,443 		JBrowse link
G NAA20 N-alpha-acetyltransferase 20, NatB catalytic subunit IAGP OMIM:619717 HPO NCBI chr20:20,017,290...20,033,655
Ensembl chr20:20,017,310...20,033,655 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP ORPHA:141291 HPO NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP ORPHA:397 HPO NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315 		JBrowse link
G PAX9 paired box 9 IAGP ORPHA:99798 HPO NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362 		JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta IAGP ORPHA:457279 HPO NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP ORPHA:397 HPO NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated IAGP ORPHA:368 HPO NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974 		JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 IAGP OMIM:617258 HPO NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250 		JBrowse link
G SELENON selenoprotein N IAGP ORPHA:2020 HPO NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP OMIM:617013 HPO NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP ORPHA:99798 HPO NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599 		JBrowse link
G TGFA transforming growth factor alpha IAGP ORPHA:99798 HPO NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193 		JBrowse link
G TP63 tumor protein p63 IAGP ORPHA:141291 HPO NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TPM2 tropomyosin 2 IAGP ORPHA:2020 HPO NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP ORPHA:2020 HPO NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP ORPHA:300570 HPO NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G WNT10A Wnt family member 10A IAGP ORPHA:99798 HPO NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581 		JBrowse link
G WNT10B Wnt family member 10B IAGP ORPHA:99798 HPO NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735 		JBrowse link
Oral bleeding term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINE1 serpin family E member 1 IAGP ORPHA:465 HPO NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP OMIM:301000 HPO NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
Oral cavity bleeding term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor IAGP ORPHA:520 HPO NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G F10 coagulation factor X IAGP ORPHA:328 HPO NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529 		JBrowse link
G F13A1 coagulation factor XIII A chain IAGP ORPHA:331 HPO NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013 		JBrowse link
G F13B coagulation factor XIII B chain IAGP ORPHA:331 HPO NCBI chr 1:197,038,741...197,067,260
Ensembl chr 1:197,038,741...197,067,260 		JBrowse link
G F2 coagulation factor II, thrombin IAGP ORPHA:325 HPO NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F5 coagulation factor V IAGP ORPHA:326 HPO NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G F8 coagulation factor VIII IAGP ORPHA:169802 HPO NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G FIP1L1 factor interacting with PAPOLA and CPSF1 IAGP ORPHA:520 HPO NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382 		JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP ORPHA:520 HPO NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178 		JBrowse link
G KIF23 kinesin family member 23 IAGP ORPHA:98870 HPO NCBI chr15:69,414,349...69,448,427
Ensembl chr15:69,414,246...69,448,427 		JBrowse link
G NABP1 nucleic acid binding protein 1 IAGP ORPHA:520 HPO NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097 		JBrowse link
G NPM1 nucleophosmin 1 IAGP ORPHA:520 HPO NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ORPHA:520 HPO NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693 		JBrowse link
G PML PML nuclear body scaffold IAGP ORPHA:520 HPO NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ORPHA:520 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G RACGAP1 Rac GTPase activating protein 1 IAGP ORPHA:98870 HPO NCBI chr12:49,989,162...50,033,440
Ensembl chr12:49,976,923...50,033,136 		JBrowse link
G RARA retinoic acid receptor alpha IAGP ORPHA:520 HPO NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP ORPHA:520 HPO NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP ORPHA:520 HPO NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP ORPHA:520 HPO NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000 		JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP ORPHA:520 HPO NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765 		JBrowse link
Xerostomia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANG angiogenin IAGP ORPHA:803 HPO NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971 		JBrowse link
G ANXA11 annexin A11 IAGP ORPHA:803 HPO NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572 		JBrowse link
G ATXN2 ataxin 2 IAGP ORPHA:803 HPO NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676 		JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit IAGP ORPHA:803 HPO NCBI chr 9:27,546,546...27,573,866
Ensembl chr 9:27,535,640...27,573,866 		JBrowse link
G CAV1 caveolin 1 IAGP ORPHA:220393 HPO NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP ORPHA:220393 HPO NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCNF cyclin F IAGP ORPHA:803 HPO NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854 		JBrowse link
G CCR6 C-C motif chemokine receptor 6 IAGP ORPHA:220393 HPO NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP ORPHA:803 HPO 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 ORPHA:803 HPO 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 ORPHA:803 HPO NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556 		JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 IAGP OMIM:100100 HPO NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452 		JBrowse link
G CLDN10 claudin 10 IAGP OMIM:617671 HPO NCBI chr13:95,433,755...95,579,759
Ensembl chr13:95,433,604...95,579,759 		JBrowse link
G DAO D-amino acid oxidase IAGP ORPHA:803 HPO NCBI chr12:108,880,092...108,901,043
Ensembl chr12:108,858,932...108,901,043 		JBrowse link
G DCTN1 dynactin subunit 1 IAGP ORPHA:803 HPO NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087 		JBrowse link
G EDARADD EDAR associated via death domain IAGP OMIM:614941 HPO NCBI chr 1:236,394,286...236,484,930
Ensembl chr 1:236,348,257...236,502,915 		JBrowse link
G ELOVL1 ELOVL fatty acid elongase 1 IAGP OMIM:618527 HPO NCBI chr 1:43,363,401...43,368,011
Ensembl chr 1:43,363,398...43,368,074 		JBrowse link
G EPHA4 EPH receptor A4 IAGP ORPHA:803 HPO 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 ORPHA:803 HPO NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841 		JBrowse link
G FGF10 fibroblast growth factor 10 IAGP OMIM:180920 ORPHA:2363 HPO NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:149730 ORPHA:2363 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:2363 HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP ORPHA:803 HPO NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FUS FUS RNA binding protein IAGP ORPHA:803 HPO 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 ORPHA:803 HPO 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 ORPHA:803 HPO NCBI chr 3:52,694,486...52,705,791
Ensembl chr 3:52,694,486...52,706,032 		JBrowse link
G GSN gelsolin IAGP ORPHA:85448 HPO NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0401, HLA-DQB1*0601 RGD PMID:8468491 RGD:7483566 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ORPHA:220393 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP ORPHA:803 HPO NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP ORPHA:220393 HPO NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G LBR lamin B receptor IAGP ORPHA:779 HPO NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP ORPHA:398069 HPO NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MATR3 matrin 3 IAGP ORPHA:803 HPO 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 NEFH neurofilament heavy chain IAGP ORPHA:803 HPO NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP ORPHA:803 HPO NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP OMIM:617321 ORPHA:90340 HPO NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G OPTN optineurin IAGP ORPHA:803 HPO NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308 		JBrowse link
G PFN1 profilin 1 IAGP ORPHA:803 HPO NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061 		JBrowse link
G PON1 paraoxonase 1 IAGP ORPHA:803 HPO 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 ORPHA:803 HPO 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 ORPHA:803 HPO 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 ORPHA:803 HPO NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PRPH peripherin IAGP ORPHA:803 HPO NCBI chr12:49,295,147...49,298,686
Ensembl chr12:49,295,147...49,298,686 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP OMIM:133020 HPO NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G SIM1 SIM bHLH transcription factor 1 IAGP ORPHA:398079 HPO NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		JBrowse link
G SLC12A2 solute carrier family 12 member 2 IAGP OMIM:619080 HPO NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677 		JBrowse link
G SOD1 superoxide dismutase 1 IAGP ORPHA:803 HPO NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SQSTM1 sequestosome 1 IAGP ORPHA:803 HPO NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility IAGP DNA:SNP:intron: (rs7574865) RGD PMID:18273036 RGD:8661708 NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G TAF15 TATA-box binding protein associated factor 15 IAGP ORPHA:803 HPO 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 ORPHA:803 HPO 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 ORPHA:803 HPO NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
G TP63 tumor protein p63 IAGP OMIM:604292 ORPHA:1896 HPO NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP ORPHA:803 HPO 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 ORPHA:803 HPO 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 ORPHA:803 HPO 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 ORPHA:803 HPO NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101 		JBrowse link
G VCP valosin containing protein IAGP ORPHA:803 HPO NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 15292
    Phenotypic abnormality 15290
      Abnormality of head or neck 3385
        Abnormality of the head 3353
          Abnormality of the face 3022
            Abnormality of the mouth 2268
              Abnormal oral physiology 247
                Abnormality of salivation + 174
                Burning mouth 0
                Halitosis + 6
                Impaired mastication 50
                Masseter muscular weakness 0
                Oral bleeding 2
                Oral cavity bleeding 21
paths to the root