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

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:laryngeal disease
go back to main search page
Accession:DOID:786 term browser browse the term
Definition:Pathological processes involving any part of the LARYNX which coordinates many functions such as voice production, breathing, swallowing, and coughing.
Synonyms:exact_synonym: Larynx Disease;   laryngeal diseases;   larynx diseases
 narrow_synonym: Dysplasia of Larynx;   Laryngeal Perichondritis;   laryngeal perichondritides
 primary_id: MESH:D007818
 xref: EFO:0009673;   EFO:1000227;   ICD10CM:J38.7;   ICD10CM:S12.8;   ICD9CM:478.70;   NCI:C26810
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matr3 matrin 3 ISO
ISS		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2
OMIM:606070
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More... NCBI chr18:27,428,190...27,474,421
Ensembl chr18:27,163,714...27,193,166 		JBrowse link
Asrar Facharzt Haque Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome ClinVar PMID:19175903 PMID:19336477 PMID:19889517 PMID:20595384 PMID:21888995 More... NCBI chr20:29,191,086...29,228,299
Ensembl chr20:28,647,391...28,685,388 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,788,472...26,836,728
Ensembl chr20:26,247,404...26,293,613 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,851,364...26,961,607
Ensembl chr20:26,309,895...26,418,500 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,984,520...27,036,573
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7420092 PMID:9536098 PMID:11294660 PMID:15173594 PMID:16199547 More... NCBI chr 9:7,922,693...7,953,509
Ensembl chr 9:7,595,444...7,626,258 		JBrowse link
G Sult1c2a sulfotransferase family 1C member 2A ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 9:7,075,873...7,103,316
Ensembl chr 9:6,874,249...6,904,734 		JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030 		JBrowse link
autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive OMIM
ClinVar		 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... NCBI chr 5:6,715,935...6,735,013
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22781092 PMID:27686364 NCBI chr 3:36,621,042...36,661,932
Ensembl chr 3:16,223,367...16,264,154 		JBrowse link
BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa OMIM
ClinVar		 PMID:25741868 PMID:30528827 NCBI chr18:12,074,321...12,105,954
Ensembl chr18:11,798,900...11,830,818 		JBrowse link
glottis squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wrap53 WD repeat containing, antisense to TP53 disease_progression ISO RGD PMID:28849066 RGD:21081521 NCBI chr10:54,780,873...54,797,919
Ensembl chr10:54,282,105...54,298,929 		JBrowse link
Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama3 laminin subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome		 OMIM
CTD
ClinVar		 PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 More... NCBI chr18:3,797,898...4,033,021
Ensembl chr18:3,523,133...3,751,353 		JBrowse link
laryngeal carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 disease_progression ISO protein:increased expression:larynx (human) RGD PMID:16494043 RGD:152025548 NCBI chr 9:98,247,300...98,258,877
Ensembl chr 9:90,799,686...90,811,237 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO protein:increased expression:larynx (human) RGD PMID:16494043 RGD:152025548 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO mRNA:decreased expression:larynx RGD PMID:25633166 RGD:151356763 NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 severity ISO RGD PMID:20164024 RGD:150573814 NCBI chr10:5,389,574...5,391,265
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Traf6 TNF receptor associated factor 6 disease_progression ISO RGD PMID:20164024 RGD:150573814 NCBI chr 3:108,418,537...108,443,330
Ensembl chr 3:87,963,514...87,983,507 		JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 exacerbates ISO mRNA, protein:increased expression:larynx (human) RGD PMID:32468011 RGD:151665191 NCBI chr 7:71,000,197...71,109,841
Ensembl chr 7:69,116,761...69,224,903 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:missense mutation:cds: p.R280H (human)
DNA:SNPs, haplotype:: (rs3213403, rs1799778, rs3213282) (human) 		RGD PMID:27808358 PMID:24956286 RGD:151236313, RGD:151236314 NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
Laryngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500343 NCBI chr 2:229,422,125...229,436,584
Ensembl chr 2:226,741,788...226,763,182 		JBrowse link
G Egfr epidermal growth factor receptor severity ISO protein:increased expression:tumor (human) RGD PMID:8883413 RGD:5131485 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snp:exon:c.354T>C (human) (rs11615) RGD PMID:24582975 RGD:13207310 NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO protein:increased expression:larynx RGD PMID:18335753 RGD:4140949 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Mir10a microRNA 10a sexual_dimorphism ISO miRNA:decreased expression:larynx epithelium (human) RGD PMID:25266939 RGD:153344531 NCBI chr10:81,779,709...81,779,818
Ensembl chr10:81,283,171...81,283,280 		JBrowse link
G Mir34c microRNA 34c sexual_dimorphism ISO miRNA:increased expression:larynx epithelium (human) RGD PMID:25266939 RGD:153344531 NCBI chr 8:60,306,091...60,306,167
Ensembl chr 8:51,409,726...51,409,802 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:17786346 RGD:5130203 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nat1 N-acetyltransferase 1 susceptibility ISO DNA:polymorphism: : RGD PMID:12037388 RGD:5131864 NCBI chr16:26,984,882...27,005,194
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 severity ISO protein:increased expression:larynx RGD PMID:20429377 RGD:5135434 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16299231 RGD:1581365 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
Laryngeal Papillomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:19736197 RGD:5135499 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Serpina3n serpin family A member 3N ISO protein:decreased expression:serum RGD PMID:16273852 RGD:5147435 NCBI chr 6:129,088,392...129,095,950
Ensembl chr 6:123,323,629...123,332,433 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO RGD PMID:10618282 RGD:5147846 NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,656,263...4,666,901 		JBrowse link
laryngeal squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO protein:decreased activity:larynx RGD PMID:8138195 RGD:152995273 NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Cat catalase ISO protein:increased activity:larynx RGD PMID:8138195 RGD:152995273 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cdc73 cell division cycle 73 disease_progression ISO protein:decreased expression:larynx (human) RGD PMID:27334641 RGD:150539447 NCBI chr13:57,897,924...58,000,031
Ensembl chr13:55,357,226...55,449,656 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:15646812 RGD:8662837 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 exacerbates ISO mRNA:increased expression:larynx (human) RGD PMID:33315534 RGD:153323310 NCBI chr 4:159,584,623...159,617,867
Ensembl chr 4:157,899,391...157,931,541 		JBrowse link
G Egfr epidermal growth factor receptor disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Foxl2 forkhead box L2 exacerbates ISO mRNA:increased expression:larynx (human) RGD PMID:32517588 RGD:151667913 NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427 		JBrowse link
G Gpx1 glutathione peroxidase 1 disease_progression
no_association		 ISO protein:increased expression:larynx (human)
DNA:missense mutation:CDS:p.P198L (human)
DNA:missense mutation:CDS:p.P198L (rs1050450) (human)		 RGD PMID:28641905 PMID:24074040 PMID:27188866 RGD:152995454, RGD:152995493, RGD:152995455 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 severity ISO associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) RGD PMID:19513509 RGD:150429781 NCBI chr10:50,842,348...50,947,063
Ensembl chr10:50,344,915...50,447,993 		JBrowse link
G Mir10a microRNA 10a severity ISO miRNA:decreased expression:blood serum (human) RGD PMID:35117730 RGD:153344530 NCBI chr10:81,779,709...81,779,818
Ensembl chr10:81,283,171...81,283,280 		JBrowse link
G Mir136 microRNA 136 ISO RNA:decreased expression:larynx (human) RGD PMID:32014687 RGD:153344610 NCBI chr 6:134,331,335...134,331,416
Ensembl chr 6:128,549,096...128,549,177 		JBrowse link
G Mir21 microRNA 21 exacerbates ISO miRNA:increased expression:blood serum (human) RGD PMID:35117730 RGD:153344530 NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mir31 microRNA 31 disease_progression ISO RNA:decreased expression:mucosa of larynx (human) RGD PMID:29737563 RGD:152998933 NCBI chr 5:108,714,849...108,714,954 JBrowse link
G Mlh1 mutL homolog 1 disease_progression ISO mRNA:decreased expression:larynx RGD PMID:23787767 RGD:126848783 NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17786346 RGD:5130203 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Msh2 mutS homolog 2 disease_progression ISO mRNA:decreased expression:larynx RGD PMID:23787767 RGD:126848783 NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938 		JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:19922706 PMID:16155914 RGD:5131602, RGD:5131856 NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Plcg1 phospholipase C, gamma 1 ameliorates ISO mRNA:increased expression:larynx (human) RGD PMID:33466212 RGD:151665160 NCBI chr 3:169,805,299...169,836,040
Ensembl chr 3:149,385,587...149,416,330 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit severity ISO associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) RGD PMID:19513509 RGD:150429781 NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Xdh xanthine dehydrogenase ISO protein:increased activity:larynx RGD PMID:8138195 RGD:152995273 NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma ClinVar NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
laryngomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Congenital laryngomalacia ClinVar PMID:25741868 NCBI chr19:40,259,873...40,356,966
Ensembl chr19:23,355,498...23,448,265 		JBrowse link
larynx cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcl12 C-X-C motif chemokine ligand 12 exacerbates ISO protein:increased expression: mucosa of larynx (human) RGD PMID:23259294 RGD:152177474 NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:150,388,325...150,401,168 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 exacerbates ISO protein:increased expression: mucosa of larynx (human) RGD PMID:23259294 RGD:152177474 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease susceptibility ISO DNA:missense mutation:CDS:p.D1104H (human) RGD PMID:19444904 RGD:155260337 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO DNA:missense mutation:CDS:p.R1230P (human) RGD PMID:19444904 RGD:155260337 NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO DNA:missense mutation:CDS: (rs1050450) (human) RGD PMID:23516596 RGD:152998903 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion: : RGD PMID:19252926 RGD:4140943 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO RGD PMID:10067818 RGD:5135043 NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:10067818 RGD:5135043 NCBI chr 2:198,219,769...198,222,732
Ensembl chr 2:195,531,495...195,534,553 		JBrowse link
G Map2k7 mitogen activated protein kinase kinase 7 ameliorates ISO mRNA:increased expression:larynx (human) RGD PMID:32791689 RGD:155256869 NCBI chr12:7,389,032...7,398,377
Ensembl chr12:2,591,219...2,604,222 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 onset ISO DNA:insertion:Cds: 3020_3021insC (human) RGD PMID:20223031 RGD:5131515 NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO RGD PMID:20967863 RGD:126925200 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
lipoid proteinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: ECM1-related condition | ClinVar Annotator: match by term: Lipid proteinosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:11929856 PMID:12472532 PMID:12603844 PMID:15327549 PMID:16172042 More... RGD:734912 NCBI chr 2:185,976,439...185,981,656
Ensembl chr 2:183,287,322...183,292,671 		JBrowse link
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss OMIM
ClinVar		 PMID:15015131 PMID:21480433 PMID:23806086 PMID:24033266 PMID:24088041 More... NCBI chr 1:104,232,778...104,295,369
Ensembl chr 1:95,096,266...95,158,836 		JBrowse link
torsion dystonia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: TUBB4A-related condition | ClinVar Annotator: match by term: Torsion dystonia 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2358646 PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 More... NCBI chr 9:2,004,836...2,012,281
Ensembl chr 9:1,917,845...1,925,291 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7383
      Otorhinolaryngologic Diseases 1799
        laryngeal disease 68
          Asrar Facharzt Haque Syndrome 1
          BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA 1
          Congenital Partial Atresia of Larynx 0
          Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous 1
          Laryngeal Atresia, Encephalocele, and Limb Deformities 0
          Laryngeal Edema 0
          Laryngeal Granuloma 0
          Laryngeal Neoplasms + 50
          Laryngeal Nerve Injuries + 0
          Laryngocele 0
          Laryngopharyngeal Reflux + 0
          Supraglottitis + 0
          Vocal Cord Dysfunction + 0
          Vocal Cord Paralysis + 10
          Voice Disorders + 4
          acquired laryngomalacia 0
          amyotrophic lateral sclerosis type 21 1
          laryngitis + 0
          laryngomalacia + 1
          laryngostenosis 0
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          sensory system disease 7383
            Otorhinolaryngologic Diseases 1799
              laryngeal disease 68
                Asrar Facharzt Haque Syndrome 1
                BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA 1
                Congenital Partial Atresia of Larynx 0
                Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous 1
                Laryngeal Atresia, Encephalocele, and Limb Deformities 0
                Laryngeal Edema 0
                Laryngeal Granuloma 0
                Laryngeal Neoplasms + 50
                Laryngeal Nerve Injuries + 0
                Laryngocele 0
                Laryngopharyngeal Reflux + 0
                Supraglottitis + 0
                Vocal Cord Dysfunction + 0
                Vocal Cord Paralysis + 10
                Voice Disorders + 4
                acquired laryngomalacia 0
                amyotrophic lateral sclerosis type 21 1
                laryngitis + 0
                laryngomalacia + 1
                laryngostenosis 0
paths to the root