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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 voice
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Accession:HP:0001608 term browser browse the term
Definition:Any abnormality of the voice.
Comment:This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth.
Synonyms:exact_synonym: Voice abnormality
 xref: UMLS:C4021776



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Abnormality of the voice term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANOS1 anosmin 1 IAGP HPO ORPHA:478 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137
JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP HPO ORPHA:588 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452
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 BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:500 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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 CCDC141 coiled-coil domain containing 141 IAGP HPO ORPHA:478 NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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 CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:588 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G CRTAP cartilage associated protein IAGP HPO ORPHA:2050 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
JBrowse link
G CTNND2 catenin delta 2 IAGP HPO ORPHA:281 NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446
JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO ORPHA:478 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899
JBrowse link
G DLEC1 DLEC1 cilia and flagella associated protein IAGP HPO ORPHA:99977 NCBI chr 3:38,039,208...38,124,025
Ensembl chr 3:38,039,205...38,124,025
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 DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 IAGP HPO ORPHA:256 NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522
JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO MIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G FEZF1 FEZ family zinc finger 1 IAGP HPO ORPHA:478 NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691
JBrowse link
G FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:588 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FKTN fukutin IAGP HPO ORPHA:588 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 IAGP HPO ORPHA:478 NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:588 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
JBrowse link
G GNRH1 gonadotropin releasing hormone 1 IAGP HPO ORPHA:432 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654
JBrowse link
G GNRHR gonadotropin releasing hormone receptor IAGP HPO ORPHA:432 NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388
JBrowse link
G GPC3 glypican 3 IAGP HPO 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 ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
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 HESX1 HESX homeobox 1 IAGP HPO ORPHA:478 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868
JBrowse link
G IL17RD interleukin 17 receptor D IAGP HPO ORPHA:478 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
JBrowse link
G KISS1 KiSS-1 metastasis suppressor IAGP HPO ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491
JBrowse link
G KISS1R KISS1 receptor IAGP HPO ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO ORPHA:588 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
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 LMNA lamin A/C IAGP HPO ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:776 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G 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 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 NDNF neuron derived neurotrophic factor IAGP HPO ORPHA:478 NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021
JBrowse link
G NHLH2 nescient helix-loop-helix 2 IAGP HPO ORPHA:432 NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO ORPHA:575 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO ORPHA:955 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP HPO ORPHA:432 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334
JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561
JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO ORPHA:2050 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
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 PMP22 peripheral myelin protein 22 IAGP HPO ORPHA:640 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:588 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:588 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:588 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
JBrowse link
G PROK2 prokineticin 2 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206
JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO ORPHA:500 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:500 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
JBrowse link
G REV3L REV3 like, DNA directed polymerase zeta catalytic subunit IAGP HPO ORPHA:570 NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715
JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
JBrowse link
G RNF6 ring finger protein 6 IAGP HPO ORPHA:99977 NCBI chr13:26,132,115...26,223,085
Ensembl chr13:26,132,115...26,222,314
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO ORPHA:99735 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO ORPHA:2050 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
JBrowse link
G SEMA3A semaphorin 3A IAGP HPO ORPHA:478 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724
JBrowse link
G SEMA5A semaphorin 5A IAGP HPO ORPHA:281 NCBI chr 5:9,035,033...9,546,075
Ensembl chr 5:9,035,033...9,546,075
JBrowse link
G SH3BP2 SH3 domain binding protein 2 IAGP HPO ORPHA:184 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,023...2,841,291
JBrowse link
G SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor IAGP HPO ORPHA:256 NCBI chr 3:72,725,272...72,848,445
Ensembl chr 3:72,749,277...72,861,914
JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO MIM:139210 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:478 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455
JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 IAGP HPO MIM:264600 NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938
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 TAC3 tachykinin precursor 3 IAGP HPO ORPHA:432 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883
JBrowse link
G TACR3 tachykinin receptor 3 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985
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 TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:99977 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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 TOR1A torsin family 1 member A IAGP HPO ORPHA:256 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244
JBrowse link
G TSPYL1 TSPY like 1 IAGP HPO MIM:608800 ORPHA:168593 NCBI chr 6:116,274,858...116,279,930
Ensembl chr 6:116,267,760...116,279,930
JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP HPO ORPHA:776 NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998
JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524
JBrowse link
G WRN WRN RecQ like helicase IAGP HPO ORPHA:902 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:99977 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP HPO ORPHA:776 NCBI chr  X:129,803,288...129,843,886
Ensembl chr  X:129,803,288...129,843,909
JBrowse link
Abnormal cry term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSHR thyroid stimulating hormone receptor IAGP HPO ORPHA:90673 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306
JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO MIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
JBrowse link
Bilateral vocal cord paresis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DST dystonin IAGP HPO MIM:614653 NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830
JBrowse link
Cat cry term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNND2 catenin delta 2 IAGP HPO ORPHA:281 NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446
JBrowse link
G SEMA5A semaphorin 5A IAGP HPO ORPHA:281 NCBI chr 5:9,035,033...9,546,075
Ensembl chr 5:9,035,033...9,546,075
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
Dysphonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
JBrowse link
G ABCB7 ATP binding cassette subfamily B member 7 IAGP HPO MIM:301310 NCBI chr  X:75,051,048...75,156,283
Ensembl chr  X:75,051,048...75,156,732
JBrowse link
G AGRN agrin IAGP HPO ORPHA:98914 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,119
JBrowse link
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 AR androgen receptor IAGP HPO ORPHA:481 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
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 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 BIN1 bridging integrator 1 IAGP HPO MIM:255200 ORPHA:169186 NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
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 CAPN15 calpain 15 IAGP HPO MIM:619318 NCBI chr16:527,712...554,636
Ensembl chr16:527,712...554,636
JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
JBrowse link
G 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 CHAT choline O-acetyltransferase IAGP HPO ORPHA:98914 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
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 CIZ1 CDKN1A interacting zinc finger protein 1 IAGP HPO ORPHA:420492 NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383
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 COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98914 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275
JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase IAGP HPO ORPHA:227510 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914
JBrowse link
G CRYAB crystallin alpha B IAGP HPO ORPHA:399058 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722
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 DGUOK deoxyguanosine kinase IAGP HPO MIM:617070 ORPHA:329314 NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961
JBrowse link
G DLST dihydrolipoamide S-succinyltransferase IAGP HPO ORPHA:29072 NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743
JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 IAGP HPO MIM:614881 NCBI chr 2:219,279,366...219,286,895
Ensembl chr 2:219,279,342...219,286,898
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 DNMT3A DNA methyltransferase 3 alpha IAGP HPO ORPHA:276621 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
JBrowse link
G EDA ectodysplasin A IAGP HPO MIM:305100 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
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 EPAS1 endothelial PAS domain protein 1 IAGP HPO ORPHA:276621 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
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 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
JBrowse link
G FH fumarate hydratase IAGP HPO ORPHA:29072 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
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 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 FTL ferritin light chain IAGP HPO MIM:606159 ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896
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...31,196,963
JBrowse link
G FXN frataxin IAGP HPO ORPHA:95 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076
JBrowse link
G GFAP glial fibrillary acidic protein IAGP HPO ORPHA:363722 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937
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 GNAL G protein subunit alpha L IAGP HPO MIM:615073 NCBI chr18:11,689,264...11,885,685
Ensembl chr18:11,689,264...11,885,685
JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236
JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
JBrowse link
G HK1 hexokinase 1 IAGP HPO MIM:605285 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884
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 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 IAGP HPO MIM:620460 NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G 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 KCTD17 potassium channel tetramerization domain containing 17 IAGP HPO MIM:616398 NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390
JBrowse link
G KIF1B kinesin family member 1B IAGP HPO ORPHA:29072 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO MIM:617284 ORPHA:589618 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880
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 LRP12 LDL receptor related protein 12 IAGP HPO MIM:164310 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258
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 MAX MYC associated factor X IAGP HPO ORPHA:29072 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
JBrowse link
G MDH2 malate dehydrogenase 2 IAGP HPO ORPHA:29072 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508
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 MFN2 mitofusin 2 IAGP HPO ORPHA:99947 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G MGME1 mitochondrial genome maintenance exonuclease 1 IAGP HPO MIM:615084 ORPHA:352447 NCBI chr20:17,968,590...17,991,122
Ensembl chr20:17,969,018...17,991,122
JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622
JBrowse link
G MYO9A myosin IXA IAGP HPO ORPHA:98914 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577
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 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 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 NEU1 neuraminidase 1 IAGP HPO ORPHA:93399 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905
JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:29072 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO ORPHA:95712 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G OPTN optineurin IAGP HPO ORPHA:803 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308
JBrowse link
G PABPN1 poly(A) binding protein nuclear 1 IAGP HPO ORPHA:270 NCBI chr14:23,321,457...23,326,163
Ensembl chr14:23,321,457...23,326,163
JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO MIM:234200 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887
JBrowse link
G PAX8 paired box 8 IAGP HPO ORPHA:95712 NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921
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 PLIN4 perilipin 4 IAGP HPO MIM:601846 NCBI chr19:4,502,192...4,518,486
Ensembl chr19:4,502,192...4,518,486
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:258450 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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 PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP HPO MIM:612067 ORPHA:210571 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512
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 RET ret proto-oncogene IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
JBrowse link
G RNASEH1 ribonuclease H1 IAGP HPO MIM:616479 NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333
JBrowse link
G RNF113A ring finger protein 113A IAGP HPO ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO MIM:613077 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:169186 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SBF2 SET binding factor 2 IAGP HPO ORPHA:99956 NCBI chr11:9,778,668...10,304,841
Ensembl chr11:9,776,776...10,304,877
JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:29072 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO ORPHA:29072 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:29072 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:276621 ORPHA:29072 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP HPO ORPHA:559 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557
JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:98914 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO ORPHA:98914 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739
JBrowse link
G SLC25A11 solute carrier family 25 member 11 IAGP HPO ORPHA:29072 NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053
JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP HPO MIM:617143 ORPHA:98914 NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994
JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP HPO ORPHA:98914 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258
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 SPEG striated muscle enriched protein kinase IAGP HPO ORPHA:169186 NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629
JBrowse link
G 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 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 SYT2 synaptotagmin 2 IAGP HPO ORPHA:98914 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
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 TARS1 threonyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091
JBrowse link
G 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 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 THAP1 THAP domain containing 1 IAGP HPO MIM:602629 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325
JBrowse link
G TMEM127 transmembrane protein 127 IAGP HPO ORPHA:29072 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047
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 TPK1 thiamin pyrophosphokinase 1 IAGP HPO MIM:614458 NCBI chr 7:144,451,941...144,836,437
Ensembl chr 7:144,451,941...144,836,395
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 TTC19 tetratricopeptide repeat domain 19 IAGP HPO MIM:615157 NCBI chr17:15,999,824...16,045,015
Ensembl chr17:15,999,784...16,045,015
JBrowse link
G TTN titin IAGP HPO ORPHA:169186 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP HPO MIM:128101 ORPHA:98805 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848
JBrowse link
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Dysphonia HPO
ClinVar
PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 More... MIM:609286 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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 VAMP1 vesicle associated membrane protein 1 IAGP HPO ORPHA:98914 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677
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
G VHL von Hippel-Lindau tumor suppressor IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
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
High-pitched cry term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase IAGP HPO MIM:613163 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO MIM:241500 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO MIM:619606 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha IAGP HPO MIM:615228 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:778 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G PNPO pyridoxamine 5'-phosphate oxidase IAGP HPO ORPHA:79096 NCBI chr17:47,941,571...47,949,308
Ensembl chr17:47,941,506...47,949,308
JBrowse link
Hoarse cry term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO MIM:228000 ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G DUOX2 dual oxidase 2 IAGP HPO ORPHA:226316 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO MIM:277590 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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 KRT14 keratin 14 IAGP HPO MIM:131760 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP HPO MIM:131760 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP HPO MIM:245660 ORPHA:79404 NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO ORPHA:79404 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP HPO ORPHA:79404 NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP HPO MIM:613177 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818
JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031
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:95713 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G PAX8 paired box 8 IAGP HPO MIM:218700 ORPHA:95713 NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921
JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:280633 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP HPO ORPHA:95713 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809
JBrowse link
G TSHB thyroid stimulating hormone subunit beta IAGP HPO MIM: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:95713 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306
JBrowse link
Hoarse voice term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP HPO MIM:612813 ORPHA:171866 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:2020 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
JBrowse link
G AFF2 ALF transcription elongation factor 2 IAGP HPO MIM:309548 ORPHA:100973 NCBI chr  X:148,500,617...149,000,663
Ensembl chr  X:148,500,617...149,000,663
JBrowse link
G AGA aspartylglucosaminidase IAGP HPO MIM:208400 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437
JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G APOA1 apolipoprotein A1 IAGP HPO MIM:620657 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO MIM:135900 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO MIM:228000 ORPHA:2590 ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
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 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 C1R complement C1r IAGP HPO MIM:130080 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G CDC73 cell division cycle 73 IAGP HPO ORPHA:143 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815
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 DDRGK1 DDRGK domain containing 1 IAGP HPO MIM:602557 ORPHA:93352 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685
JBrowse link
G DEAF1 DEAF1 transcription factor IAGP HPO ORPHA:819 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
JBrowse link
G ECM1 extracellular matrix protein 1 IAGP HPO MIM:247100 ORPHA:530 NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789
JBrowse link
G EDA ectodysplasin A IAGP HPO MIM:305100 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
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 MIM:194050 ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO ORPHA:3447 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:102370 ORPHA:969 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
JBrowse link
G FLII FLII actin remodeling protein IAGP HPO ORPHA:819 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738
JBrowse link
G FLNA filamin A IAGP HPO MIM:309350 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO MIM:607706 ORPHA:101097 ORPHA:99948 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:3166 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 MIM:252500 ORPHA:423461 ORPHA:576 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
G GPC3 glypican 3 IAGP HPO 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 ORPHA:2662 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 HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP HPO ORPHA:2020 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO MIM:218040 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO MIM: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 IFIH1 interferon induced with helicase C domain 1 IAGP HPO ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:217377 ORPHA:819 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350
JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404
JBrowse link
G KRT14 keratin 14 IAGP HPO MIM:131760 ORPHA:79396 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT16 keratin 16 IAGP HPO ORPHA:2309 NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
JBrowse link
G KRT17 keratin 17 IAGP HPO MIM:167210 ORPHA:2309 NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
JBrowse link
G KRT5 keratin 5 IAGP HPO MIM:131760 ORPHA:79396 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G KRT6A keratin 6A IAGP HPO ORPHA:2309 NCBI chr12:52,487,176...52,493,257
Ensembl chr12:52,487,176...52,493,257
JBrowse link
G KRT6B keratin 6B IAGP HPO ORPHA:2309 NCBI chr12:52,446,651...52,452,146
Ensembl chr12:52,446,651...52,452,146
JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP HPO ORPHA:79404 NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO ORPHA:79404 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP HPO ORPHA:79404 NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO MIM:166700 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO MIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:235 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709
JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO MIM:617809 ORPHA:969 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930
JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO MIM:619087 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MATR3 matrin 3 IAGP HPO MIM:606070 ORPHA:600 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 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 MFN2 mitofusin 2 IAGP HPO ORPHA:99947 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G MID1 midline 1 IAGP HPO MIM:300000 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654
JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO MIM:194050 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
JBrowse link
G MYH14 myosin heavy chain 14 IAGP HPO MIM:614369 ORPHA:397744 NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542
JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434
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 NFE2L2 NFE2 like bZIP transcription factor 2 IAGP HPO MIM:617744 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO ORPHA:95712 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G NLRP1 NLR family pyrin domain containing 1 IAGP HPO MIM:618803 NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:3447 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO ORPHA:235 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
JBrowse link
G PAX8 paired box 8 IAGP HPO ORPHA:95712 NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921
JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO MIM:613038 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha IAGP HPO MIM:617711 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278
JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO MIM:182290 ORPHA:819 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
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 RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640
JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120
JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818
JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO MIM:601650 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO MIM:605373 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 MIM:168000 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
JBrowse link
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 SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP HPO MIM:607721 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307
JBrowse link
G SLC19A2 solute carrier family 19 member 2 IAGP HPO MIM:249270 NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) HPO
RGD
PMID:21155763 MIM:222600, RGD:11072411 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G SMS spermine synthase IAGP HPO MIM:309583 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837
JBrowse link
G SPART spartin IAGP HPO ORPHA:101000 NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180
JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO MIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
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 SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP HPO ORPHA:3447 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,045
JBrowse link
G TBC1D2B TBC1 domain family member 2B IAGP HPO ORPHA:397973 NCBI chr15:77,994,985...78,077,711
Ensembl chr15:77,984,036...78,077,724
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 THRA thyroid hormone receptor alpha IAGP HPO MIM:614450 NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867
JBrowse link
G TLK2 tousled like kinase 2 IAGP HPO MIM:618050 NCBI chr17:62,470,914...62,615,481
Ensembl chr17:62,458,658...62,615,481
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 TPM2 tropomyosin 2 IAGP HPO ORPHA:2020 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 HPO ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G TRH thyrotropin releasing hormone IAGP HPO MIM:275120 NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935
JBrowse link
G TRHR thyrotropin releasing hormone receptor IAGP HPO ORPHA:99832 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:181405 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G TSHB thyroid stimulating hormone subunit beta IAGP HPO ORPHA:90674 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302
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
Hypernasal speech term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin IAGP HPO ORPHA:869 NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864
JBrowse link
G AGRN agrin IAGP HPO ORPHA:98914 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,119
JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO MIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708
JBrowse link
G ARHGAP29 Rho GTPase activating protein 29 IAGP HPO ORPHA:199306 NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
JBrowse link
G ARHGEF38 Rho guanine nucleotide exchange factor 38 IAGP HPO ORPHA:199306 NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G ATG7 autophagy related 7 IAGP HPO MIM:619422 NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665
JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP HPO MIM:278250 ORPHA:2834 NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
JBrowse link
G BAG3 BAG cochaperone 3 IAGP HPO MIM:612954 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819
JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:199306 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CADM3 cell adhesion molecule 3 IAGP HPO MIM:619519 NCBI chr 1:159,171,615...159,203,313
Ensembl chr 1:159,171,609...159,203,313
JBrowse link
G CAMKMT calmodulin-lysine N-methyltransferase IAGP HPO ORPHA:163693 NCBI chr 2:44,361,947...44,772,592
Ensembl chr 2:44,361,947...44,772,592
JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 IAGP HPO MIM:614756 NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706
JBrowse link
G CDH1 cadherin 1 IAGP HPO ORPHA:199306 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CEP104 centrosomal protein 104 IAGP HPO MIM:619988 NCBI chr 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396
JBrowse link
G CHAT choline O-acetyltransferase IAGP HPO ORPHA:98914 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
JBrowse link
G CNOT2 CCR4-NOT transcription complex subunit 2 IAGP HPO MIM:618608 NCBI chr12:70,243,018...70,354,993
Ensembl chr12:70,243,002...70,354,993
JBrowse link
G COBLL1 cordon-bleu WH2 repeat protein like 1 IAGP HPO ORPHA:199306 NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98914 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275
JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO MIM:614134 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP HPO MIM:272430 NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741
JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 IAGP HPO MIM:192430 NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454
JBrowse link
G DGCR6 DiGeorge syndrome critical region gene 6 IAGP HPO MIM:192430 NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238
JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit IAGP HPO MIM:192430 NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 IAGP HPO ORPHA:199306 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
JBrowse link
G DLX4 distal-less homeobox 4 IAGP HPO ORPHA:199306 NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
JBrowse link
G DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 IAGP HPO MIM:618492 NCBI chr 2:171,687,469...171,750,158
Ensembl chr 2:171,687,409...171,750,158
JBrowse link
G ERI1 exoribonuclease 1 IAGP HPO MIM:620663 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746
JBrowse link
G ESS2 ess-2 splicing factor homolog IAGP HPO MIM:192430 NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684
JBrowse link
G FOXP2 forkhead box P2 IAGP HPO ORPHA:251061 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772
JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A IAGP HPO MIM:615510 ORPHA:869 NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP HPO ORPHA:155878 ORPHA:99772 NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP HPO ORPHA:163721 NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,183,337
JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP HPO MIM:176270 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 IAGP HPO MIM:300143 NCBI chr  X:28,587,446...29,956,718
Ensembl chr  X:28,587,446...29,956,718
JBrowse link
G IPW imprinted in Prader-Willi syndrome IAGP HPO MIM:176270 NCBI chr15:25,116,545...25,122,476 JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:217377 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:141291 ORPHA:199306 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO MIM:610443 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO MIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO MIM:164310 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258
JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO MIM:176270 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
JBrowse link
G MATR3 matrin 3 IAGP HPO ORPHA:600 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 MED12 mediator complex subunit 12 IAGP HPO MIM:309520 ORPHA:776 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G MEGF10 multiple EGF like domains 10 IAGP HPO MIM:614399 MIM:620249 NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737
JBrowse link
G MGME1 mitochondrial genome maintenance exonuclease 1 IAGP HPO MIM:615084 ORPHA:352447 NCBI chr20:17,968,590...17,991,122
Ensembl chr20:17,969,018...17,991,122
JBrowse link
G MGP matrix Gla protein IAGP HPO MIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
JBrowse link
G MKRN3 makorin ring finger protein 3 IAGP HPO MIM:176270 NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075
JBrowse link
G MKRN3-AS1 MKRN3 antisense RNA 1 IAGP HPO MIM:176270
G MSX1 msh homeobox 1 IAGP HPO ORPHA:141291 ORPHA:199306 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO MIM:616325 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:193700 ORPHA:2053 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G MYMX myomixer, myoblast fusion factor IAGP HPO MIM:619941 NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,236
JBrowse link
G MYO9A myosin IXA IAGP HPO ORPHA:98914 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577
JBrowse link
G MYOT myotilin IAGP HPO ORPHA:98911 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851
JBrowse link
G MYPN myopalladin IAGP HPO ORPHA:171881 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017
JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO ORPHA:2053 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:141291 ORPHA:199306 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G NONO non-POU domain containing octamer binding IAGP HPO MIM:300967 ORPHA:466791 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522
JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO MIM:130720 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G NPAP1 nuclear pore associated protein 1 IAGP HPO MIM:176270 NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393
JBrowse link
G PABPN1 poly(A) binding protein nuclear 1 IAGP HPO MIM:164300 NCBI chr14:23,321,457...23,326,163
Ensembl chr14:23,321,457...23,326,163
JBrowse link
G PCNT pericentrin IAGP HPO ORPHA:2637 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO ORPHA:199306 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PHF8 PHD finger protein 8 IAGP HPO MIM:300263 NCBI chr  X:53,936,680...54,048,936
Ensembl chr  X:53,936,676...54,048,958
JBrowse link
G PLEC plectin IAGP HPO ORPHA:254361 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:607459 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B IAGP HPO ORPHA:163693 NCBI chr 2:44,168,875...44,246,928
Ensembl chr 2:44,167,969...44,244,384
JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP HPO MIM:309500 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402
JBrowse link
G PREPL prolyl endopeptidase like IAGP HPO ORPHA:163690 ORPHA:163693 NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862
JBrowse link
G PWAR1 Prader Willi/Angelman region RNA 1 IAGP HPO MIM:176270 NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055
JBrowse link
G PWRN1 Prader-Willi region non-protein coding RNA 1 IAGP HPO MIM:176270 NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365
JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 IAGP HPO MIM:617258 NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250
JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 IAGP HPO ORPHA:199306 NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
JBrowse link
G RILPL1 Rab interacting lysosomal protein like 1 IAGP HPO MIM:619790 NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719
JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:620351 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
JBrowse link
G SELENON selenoprotein N IAGP HPO MIM:602771 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
JBrowse link
G SET SET nuclear proto-oncogene IAGP HPO MIM:618106 NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400
JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP HPO MIM:607721 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307
JBrowse link
G SLC18A2 solute carrier family 18 member A2 IAGP HPO MIM:618049 ORPHA:352649 NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430
JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:98914 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO ORPHA:98914 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739
JBrowse link
G SLC3A1 solute carrier family 3 member 1 IAGP HPO ORPHA:163690 ORPHA:163693 NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494
JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP HPO ORPHA:98914 NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994
JBrowse link
G SMS spermine synthase IAGP HPO MIM:309583 ORPHA:3063 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837
JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP HPO ORPHA:98914 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258
JBrowse link
G SNORD115-1 small nucleolar RNA, C/D box 115-1 IAGP HPO MIM:176270 NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804
JBrowse link
G SNORD116-1 small nucleolar RNA, C/D box 116-1 IAGP HPO MIM:176270 NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571
JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO MIM:117650 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177907 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP HPO ORPHA:99013 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766
JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO ORPHA:2044 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 IAGP HPO ORPHA:163721 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788
JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO MIM:619461 ORPHA:98914 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO MIM:188400 MIM:192430 ORPHA:1727 ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO MIM:113620 ORPHA:1297 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:141291 ORPHA:199306 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:171881 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 HPO ORPHA:171881 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP HPO ORPHA:869 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594
JBrowse link
G TUBB6 tubulin beta 6 class V IAGP HPO MIM:617732 NCBI chr18:12,307,669...12,329,826
Ensembl chr18:12,307,669...12,344,320
JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO MIM:607459 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
JBrowse link
G UBB ubiquitin B IAGP HPO ORPHA:155878 ORPHA:99772 NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
JBrowse link
G UNC45B unc-45 myosin chaperone B IAGP HPO MIM:619178 NCBI chr17:35,147,817...35,189,345
Ensembl chr17:35,147,817...35,189,345
JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP HPO MIM:300676 ORPHA:776 NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998
JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP HPO ORPHA:98914 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677
JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 IAGP HPO MIM:612337 NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476
JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP HPO ORPHA:776 NCBI chr  X:129,803,288...129,843,886
Ensembl chr  X:129,803,288...129,843,909
JBrowse link
Hyponasal speech term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLX4 distal-less homeobox 4 IAGP HPO MIM:616788 NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
JBrowse link
G TBC1D2B TBC1 domain family member 2B IAGP HPO ORPHA:397973 NCBI chr15:77,994,985...78,077,711
Ensembl chr15:77,984,036...78,077,724
JBrowse link
Imperfect vocal cord adduction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MATR3 matrin 3 IAGP HPO ORPHA:600 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
Laryngeal dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5MC3 ATP synthase membrane subunit c locus 3 IAGP HPO MIM:619681 NCBI chr 2:175,176,258...175,181,710
Ensembl chr 2:175,176,258...175,181,710
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO MIM:616411 ORPHA:464440 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G FTL ferritin light chain IAGP HPO MIM:606159 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896
JBrowse link
G GNAL G protein subunit alpha L IAGP HPO MIM:615073 ORPHA:329466 NCBI chr18:11,689,264...11,885,685
Ensembl chr18:11,689,264...11,885,685
JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:79443 ORPHA:79444 ORPHA:94089 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 IAGP HPO MIM:616398 NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390
JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO MIM:617284 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880
JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP HPO MIM:612067 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512
JBrowse link
G STX16 syntaxin 16 IAGP HPO ORPHA:94089 NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526
JBrowse link
G THAP1 THAP domain containing 1 IAGP HPO MIM:602629 ORPHA:98806 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325
JBrowse link
G TSPOAP1 TSPO associated protein 1 IAGP HPO MIM:620453 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795
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
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO MIM:619637 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972
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
Loss of voice term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896
JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO MIM:619259 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO MIM:601650 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO MIM:605373 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 MIM:168000 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
Pseudobulbar paralysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO MIM:607371 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
JBrowse link
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 ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO MIM:616586 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO MIM:606353 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
JBrowse link
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 IAGP HPO ORPHA:101006 NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO MIM:213700 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G DCTN1 dynactin subunit 1 IAGP HPO MIM:105400 NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:208441 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G HMBS hydroxymethylbilane synthase IAGP HPO ORPHA:79276 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834
JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP HPO ORPHA:199354 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
JBrowse link
G LMNB1 lamin B1 IAGP HPO MIM:169500 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
JBrowse link
G NEFH neurofilament heavy chain IAGP HPO MIM:105400 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
JBrowse link
G NONO non-POU domain containing octamer binding IAGP HPO ORPHA:466791 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522
JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO MIM:125310 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit IAGP HPO MIM:617082 NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727
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 PRPH peripherin IAGP HPO MIM:105400 NCBI chr12:49,295,147...49,298,686
Ensembl chr12:49,295,147...49,298,686
JBrowse link
G RARS1 arginyl-tRNA synthetase 1 IAGP HPO MIM:616140 ORPHA:438114 NCBI chr 5:168,486,471...168,519,301
Ensembl chr 5:168,486,451...168,519,301
JBrowse link
G SEC31A SEC31 homolog A, COPII coat complex component IAGP HPO MIM:618651 NCBI chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,509...82,901,166
JBrowse link
G SOD1 superoxide dismutase 1 IAGP HPO MIM:105400 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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 TGM6 transglutaminase 6 IAGP HPO MIM:613908 ORPHA:276193 NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753
JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 IAGP HPO ORPHA:100996 NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590
JBrowse link
Speech articulation difficulties term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 IAGP HPO ORPHA:79101 NCBI chr 1:18,871,430...18,902,555
Ensembl chr 1:18,871,430...18,902,724
JBrowse link
G ARHGAP29 Rho GTPase activating protein 29 IAGP HPO ORPHA:199306 NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
JBrowse link
G ARHGEF38 Rho guanine nucleotide exchange factor 38 IAGP HPO ORPHA:199306 NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:199306 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CDH1 cadherin 1 IAGP HPO ORPHA:199306 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G COBLL1 cordon-bleu WH2 repeat protein like 1 IAGP HPO ORPHA:199306 NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 IAGP HPO ORPHA:199306 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
JBrowse link
G DLX4 distal-less homeobox 4 IAGP HPO ORPHA:199306 NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
JBrowse link
G FOXP1 forkhead box P1 IAGP HPO ORPHA:391372 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
JBrowse link
G FRRS1L ferric chelate reductase 1 like IAGP HPO ORPHA:725 NCBI chr 9:109,130,293...109,167,249
Ensembl chr 9:109,130,293...109,167,249
JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP HPO ORPHA:1945 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP HPO ORPHA:79239 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035
JBrowse link
G GNAI3 G protein subunit alpha i3 IAGP HPO MIM:602483 NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195
JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP HPO ORPHA:99772 NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP HPO ORPHA:1945 ORPHA:725 ORPHA:98818 NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,183,337
JBrowse link
G HTT huntingtin IAGP HPO ORPHA:399 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:141291 ORPHA:199302 ORPHA:199306 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO ORPHA:177901 ORPHA:177904 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
JBrowse link
G MAPT microtubule associated protein tau IAGP HPO ORPHA:240103 ORPHA:240112 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:141291 ORPHA:199302 ORPHA:199306 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G NDN necdin, MAGE family member IAGP HPO ORPHA:177901 ORPHA:177904 NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:141291 ORPHA:199302 ORPHA:199306 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:363700 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NONO non-POU domain containing octamer binding IAGP DNA:nonsense mutation, silent mutation, frameshift mutation:CDS:p.R365*, p.A377A, p.N466Kfs*13 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 OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:177901 ORPHA:177904 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO ORPHA:199306 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PLCB4 phospholipase C beta 4 IAGP HPO MIM:614669 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593
JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 IAGP HPO ORPHA:199306 NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP HPO ORPHA:261197 NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212
JBrowse link
G SLC2A3 solute carrier family 2 member 3 IAGP HPO ORPHA:399 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007
JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO MIM:139210 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177901 ORPHA:177904 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:1945 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788
JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO ORPHA:521258 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664
JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:141291 ORPHA:199302 ORPHA:199306 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G UBB ubiquitin B IAGP HPO ORPHA:99772 NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745
JBrowse link
Staccato cry term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSPYL1 TSPY like 1 IAGP HPO MIM:608800 NCBI chr 6:116,274,858...116,279,930
Ensembl chr 6:116,267,760...116,279,930
JBrowse link
Unilateral vocal cord paralysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP HPO MIM:301030 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986
JBrowse link
Unilateral vocal cord paresis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase IAGP HPO MIM:617660 NCBI chr 2:42,767,089...42,792,583
Ensembl chr 2:42,767,089...42,792,593
JBrowse link
Vocal cord paralysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY6 adenylate cyclase 6 IAGP HPO MIM:616287 NCBI chr12:48,766,194...48,789,974
Ensembl chr12:48,766,194...48,789,089
JBrowse link
G ATXN3 ataxin 3 IAGP HPO ORPHA:276238 ORPHA:276241 ORPHA:276244 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621
JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta IAGP HPO MIM:617799 NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577
JBrowse link
G DCTN1 dynactin subunit 1 IAGP HPO MIM:607641 NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087
JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 IAGP HPO ORPHA:268882 NCBI chr10:52,314,281...52,317,657
Ensembl chr10:52,314,281...52,318,042
JBrowse link
G DLST dihydrolipoamide S-succinyltransferase IAGP HPO ORPHA:29072 NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO ORPHA:276621 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
JBrowse link
G ELN elastin IAGP HPO MIM:194050 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G EMD emerin IAGP HPO ORPHA:98863 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574
JBrowse link
G EPAS1 endothelial PAS domain protein 1 IAGP HPO ORPHA:276621 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
JBrowse link
G FH fumarate hydratase IAGP HPO ORPHA:29072 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO ORPHA:98863 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359
JBrowse link
G KIF1B kinesin family member 1B IAGP HPO ORPHA:29072 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:98853 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G MAX MYC associated factor X IAGP HPO ORPHA:29072 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
JBrowse link
G MDH2 malate dehydrogenase 2 IAGP HPO ORPHA:29072 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508
JBrowse link
G MFN2 mitofusin 2 IAGP HPO ORPHA:99947 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO MIM:194050 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO MIM:164280 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G MYH14 myosin heavy chain 14 IAGP HPO ORPHA:397744 NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542
JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:29072 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO MIM:162500 ORPHA:640 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292
JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
JBrowse link
G RET ret proto-oncogene IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G SBF2 SET binding factor 2 IAGP HPO ORPHA:99956 NCBI chr11:9,778,668...10,304,841
Ensembl chr11:9,776,776...10,304,877
JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO MIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:29072 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO MIM:601650 ORPHA:29072 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO MIM:605373 ORPHA:29072 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 MIM:168000 ORPHA:276621 ORPHA:29072 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
JBrowse link
G SLC25A11 solute carrier family 25 member 11 IAGP HPO ORPHA:29072 NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053
JBrowse link
G SLC52A3 solute carrier family 52 member 3 IAGP HPO MIM:211530 NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015
JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP HPO MIM:158580 NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801
JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433
JBrowse link
G TMEM127 transmembrane protein 127 IAGP HPO ORPHA:29072 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047
JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680
JBrowse link
G TNNC2 troponin C2, fast skeletal type IAGP HPO MIM:620161 NCBI chr20:45,823,214...45,833,306
Ensembl chr20:45,823,214...45,833,745
JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 IAGP HPO ORPHA:500144 NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094
JBrowse link
G TRIM2 tripartite motif containing 2 IAGP HPO MIM:615490 NCBI chr 4:153,152,163...153,339,317
Ensembl chr 4:153,152,163...153,339,319
JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO MIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
JBrowse link
Vocal cord paresis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO MIM:607706 ORPHA:101097 ORPHA:99948 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007
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 JAG1 jagged canonical Notch ligand 1 IAGP HPO MIM:619574 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO MIM:600373 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
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 MATR3 matrin 3 IAGP HPO ORPHA:600 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 MFN2 mitofusin 2 IAGP HPO MIM:601152 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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 PRX periaxin IAGP HPO MIM:614895 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793
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 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
G SLC5A7 solute carrier family 5 member 7 IAGP HPO MIM:158580 NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:606071 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
Weak cry term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGRN agrin IAGP HPO ORPHA:98914 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,119
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G ASPA aspartoacylase IAGP HPO ORPHA:314911 NCBI chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405
JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO MIM:301040 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G CHAT choline O-acetyltransferase IAGP HPO MIM:254210 ORPHA:98914 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO MIM:608930 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO MIM:616322 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP HPO MIM:605809 MIM:608931 NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98914 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275
JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP HPO MIM:603034 ORPHA:98915 NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751
JBrowse link
G COQ9 coenzyme Q9 IAGP HPO MIM:614654 NCBI chr16:57,447,479...57,461,270
Ensembl chr16:57,447,425...57,461,270
JBrowse link
G CRYAB crystallin alpha B IAGP HPO MIM:613869 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722
JBrowse link
G EXOSC9 exosome component 9 IAGP HPO MIM:618065 NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021
JBrowse link
G FKTN fukutin IAGP HPO ORPHA:272 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IAGP HPO MIM:612938 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 IAGP HPO MIM:608931 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 IAGP HPO MIM:619518 NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532
JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP HPO MIM:619967 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374
JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO MIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986
JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 IAGP HPO MIM:604320 NCBI chr11:68,903,891...68,940,601
Ensembl chr11:68,903,863...68,940,602
JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO MIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO MIM:147920 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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 LAMA3 laminin subunit alpha 3 IAGP HPO MIM:245660 NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LAMB2 laminin subunit beta 2 IAGP HPO ORPHA:98915 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118
JBrowse link
G LYRM4 LYR motif containing 4 IAGP HPO MIM:615595 NCBI chr 6:5,031,753...5,260,950
Ensembl chr 6:5,103,629...5,260,950
JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO MIM:615547 ORPHA:398069 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP HPO MIM:256810 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680
JBrowse link
G MYO9A myosin IXA IAGP HPO ORPHA:98914 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577
JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 IAGP HPO MIM:618222 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644
JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO MIM:122470 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO MIM:616896 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO MIM:614886 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
JBrowse link
G PPP1R21 protein phosphatase 1 regulatory subunit 21 IAGP HPO MIM:619383 NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391
JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO MIM:616326 MIM:618388 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:324581 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:620351 MIM:620369 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
JBrowse link
G SIM1 SIM bHLH transcription factor 1 IAGP HPO ORPHA:398079 NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921
JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:98914 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO ORPHA:98914 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739
JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP HPO ORPHA:98914 NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994
JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP HPO ORPHA:98914 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258
JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177907 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO MIM:619461 ORPHA:98914 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
JBrowse link
G TPM3 tropomyosin 3 IAGP HPO MIM:255310 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
JBrowse link
G TRIP4 thyroid hormone receptor interactor 4 IAGP HPO ORPHA:486815 NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303
JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO MIM:301830 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128
JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP HPO ORPHA:98914 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677
JBrowse link
G VARS1 valyl-tRNA synthetase 1 IAGP HPO MIM:617802 NCBI chr 6:31,777,518...31,795,752
Ensembl chr 6:31,777,518...31,795,752
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
Weak voice term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide IAGP HPO MIM:168600 NCBI chr 4:99,336,497...99,352,746
Ensembl chr 4:99,336,497...99,352,746
JBrowse link
G AOPEP aminopeptidase O (putative) IAGP HPO MIM:619565 NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793
JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO ORPHA:93952 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848
JBrowse link
G ATXN2 ataxin 2 IAGP HPO MIM:168600 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
JBrowse link
G ATXN3 ataxin 3 IAGP HPO MIM:168600 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621
JBrowse link
G ATXN8OS ATXN8 opposite strand lncRNA IAGP HPO MIM:168600 NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738
JBrowse link
G COQ6 coenzyme Q6, monooxygenase IAGP HPO ORPHA:93921 NCBI chr14:73,949,918...73,963,670
Ensembl chr14:73,949,926...73,963,670
JBrowse link
G DCTN1 dynactin subunit 1 IAGP HPO MIM:168605 NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087
JBrowse link
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 IAGP HPO ORPHA:391411 NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871
JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO MIM:300280 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359
JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896
JBrowse link
G GARS1 glycyl-tRNA synthetase 1 IAGP HPO MIM:619042 NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:168600 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO MIM:255800 ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO ORPHA:93921 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G MAPT microtubule associated protein tau IAGP HPO MIM:168600 ORPHA:240094 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
JBrowse link
G MATR3 matrin 3 IAGP HPO ORPHA:600 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 MT-TT mitochondrially encoded tRNA-Thr (ACN) IAGP HPO MIM:168600 NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953
JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:93921 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO MIM:168600 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348
JBrowse link
G PODXL podocalyxin like IAGP HPO ORPHA:391411 NCBI chr 7:131,500,271...131,556,628
Ensembl chr 7:131,500,262...131,558,217
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:254886 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G SLC52A3 solute carrier family 52 member 3 IAGP HPO MIM:211530 NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015
JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO ORPHA:93921 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
G SNCAIP synuclein alpha interacting protein IAGP HPO MIM:168600 NCBI chr 5:122,311,353...122,464,219
Ensembl chr 5:122,311,354...122,464,219
JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO MIM:615530 ORPHA:391411 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040
JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO MIM:619461 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
JBrowse link
G TBP TATA-box binding protein IAGP HPO MIM:168600 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870
JBrowse link
G TK2 thymidine kinase 2 IAGP HPO ORPHA:254886 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544
JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO MIM:253250 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 87531
    Phenotypic abnormality 87110
      Abnormality of the voice 499
        Abnormal cry + 62
        Dysphonia + 159
        Hoarse voice + 117
        Hypernasal speech 115
        Hyponasal speech 2
        Loss of voice 6
        Speech articulation difficulties + 36
        Vocal cord dysfunction + 58
        Weak voice 31
        Wet voice 0
paths to the root