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.
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MATR3
matrin 3
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2
OMIM ClinVar
PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 PMID:25154462 PMID:25185957 PMID:25677933 PMID:25741868 PMID:25771394 PMID:25952333 PMID:26467025 PMID:26493020 PMID:26528920 PMID:26780671 PMID:28029397 PMID:28492532 PMID:29109432 PMID:30015619 PMID:30563574 PMID:31019288 PMID:32028661 More...
NCBI chr 5:134,664,893...134,702,566
Ensembl chr 5:140,788,709...140,825,064
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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 PMID:22875837 PMID:23530176 PMID:25741868 PMID:27143505 PMID:27364927 PMID:28492532 PMID:29041934 PMID:29751792 PMID:29808591 PMID:31464584 More...
NCBI chr10:67,789,060...67,833,278
Ensembl chr10:70,317,882...70,358,482
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CCDC138
coiled-coil domain containing 138
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr2A:95,030,440...95,126,627
Ensembl chr2A:110,041,000...110,128,234
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EDAR
ectodysplasin A receptor
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398
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GCC2
GRIP and coiled-coil domain containing 2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr2A:94,659,117...94,721,491
Ensembl chr2A:109,682,552...109,734,682
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LIMS1
LIM zinc finger domain containing 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr2A:94,739,338...94,928,835
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LOC100989340
E3 SUMO-protein ligase RanBP2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr2A:94,961,024...95,029,437
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SLC5A7
solute carrier family 5 member 7
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
OMIM ClinVar
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 More...
NCBI chr2A:93,917,086...93,944,308
Ensembl chr2A:109,017,805...109,046,860
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SULT1C2
sulfotransferase family 1C member 2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr2A:94,468,094...94,489,191
Ensembl chr2A:109,572,466...109,622,211
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SULT1C4
sulfotransferase family 1C member 4
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr2A:94,508,492...94,519,963
Ensembl chr2A:109,572,466...109,622,211
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DSG3
desmoglein 3
ISO
ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa
OMIM ClinVar
PMID:30528827
NCBI chr18:24,664,969...24,695,271
Ensembl chr18:28,262,860...28,293,879
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ACOX1
acyl-CoA oxidase 1
ISO
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
ClinVar
PMID:25326637 PMID:28492532
NCBI chr17:69,890,817...69,928,342
Ensembl chr17:75,445,923...75,479,571
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GDAP1
ganglioside induced differentiation associated protein 1
ISO
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 PMID:12707075 PMID:14561495 PMID:15019704 PMID:15805163 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:20301641 PMID:20301711 PMID:20849849 PMID:21365284 PMID:21519004 PMID:21840889 PMID:25231362 PMID:25337607 PMID:25741868 PMID:26467025 PMID:26848201 PMID:27549087 PMID:28492532 PMID:31589614 PMID:32183277 PMID:32376792 PMID:33187793 PMID:33477664 PMID:35662277 PMID:36140714 More...
NCBI chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346
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LRSAM1
leucine rich repeat and sterile alpha motif containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22781092 PMID:27686364
NCBI chr 9:98,571,796...98,623,581
Ensembl chr 9:127,245,508...127,297,645
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WRAP53
WD repeat containing antisense to TP53
disease_progression
ISO
RGD
PMID:28849066
RGD:21081521
NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394
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LAMA3
laminin subunit alpha 3
ISO
ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome
OMIM ClinVar
PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 PMID:9536098 PMID:10366601 PMID:11810295 PMID:12915477 PMID:16199547 PMID:16473856 PMID:17362460 PMID:17576681 PMID:22434185 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25741868 PMID:26635394 PMID:27827380 PMID:28087116 PMID:28492532 PMID:35314946 More...
NCBI chr18:16,941,316...17,208,363
Ensembl chr18:20,565,649...20,831,957
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ACKR3
atypical chemokine receptor 3
disease_progression
ISO
protein:increased expression:larynx (human)
RGD
PMID:16494043
RGD:152025548
NCBI chr2B:123,795,664...123,810,067
Ensembl chr2B:242,666,173...242,667,261
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CXCR4
C-X-C motif chemokine receptor 4
disease_progression
ISO
protein:increased expression:larynx (human)
RGD
PMID:16494043
RGD:152025548
NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647
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KMT2C
lysine methyltransferase 2C
ISO
mRNA:decreased expression:larynx
RGD
PMID:25633166
RGD:151356763
NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043
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SOCS1
suppressor of cytokine signaling 1
severity
ISO
RGD
PMID:20164024
RGD:150573814
NCBI chr16:10,196,432...10,198,205
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TRAF6
TNF receptor associated factor 6
disease_progression
ISO
RGD
PMID:20164024
RGD:150573814
NCBI chr11:36,457,633...36,483,616
Ensembl chr11:36,335,609...36,356,334
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UBR5
ubiquitin protein ligase E3 component n-recognin 5
exacerbates
ISO
mRNA, protein:increased expression:larynx (human)
RGD
PMID:32468011
RGD:151665191
NCBI chr 8:98,904,557...99,064,121
Ensembl chr 8:101,067,435...101,224,913
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XRCC1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:SNPs, haplotype:: (rs3213403, rs1799778, rs3213282) (human) DNA:missense mutation:cds: p.R280H (human)
RGD
PMID:24956286 PMID:27808358
RGD:151236313 RGD:151236314
NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
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ADH1B
alcohol dehydrogenase 1B (class I), beta polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18500343
NCBI chr 4:91,726,870...91,741,824
Ensembl chr 4:102,388,575...102,435,079
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ADH7
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18500343
NCBI chr 4:91,833,111...91,856,325
Ensembl chr 4:102,494,784...102,518,215
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EGFR
epidermal growth factor receptor
severity
ISO
protein:increased expression:tumor (human)
RGD
PMID:8883413
RGD:5131485
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
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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 chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430
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GSTP1
glutathione S-transferase pi 1
ISO
protein:increased expression:larynx
RGD
PMID:18335753
RGD:4140949
NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
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MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:17786346
RGD:5130203
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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NAT1
N-acetyltransferase 1
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:12037388
RGD:5131864
NCBI chr 8:17,425,852...17,439,684
Ensembl chr 8:14,386,481...14,392,462
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PTGS2
prostaglandin-endoperoxide synthase 2
severity
ISO
protein:increased expression:larynx
RGD
PMID:20429377
RGD:5135434
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:16299231
RGD:1581365
NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:19736197
RGD:5135499
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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SERPINA3
serpin family A member 3
ISO
protein:decreased expression:serum
RGD
PMID:16273852
RGD:5147435
NCBI chr14:75,220,252...75,247,996
Ensembl chr14:94,551,934...94,579,515
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TAP1
transporter 1, ATP binding cassette subfamily B member
ISO
RGD
PMID:10618282
RGD:5147846
NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978
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ADA
adenosine deaminase
ISO
protein:decreased activity:larynx
RGD
PMID:8138195
RGD:152995273
NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
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CAT
catalase
ISO
protein:increased activity:larynx
RGD
PMID:8138195
RGD:152995273
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
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CDC73
cell division cycle 73
disease_progression
ISO
protein:decreased expression:larynx (human)
RGD
PMID:27334641
RGD:150539447
NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934
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CDKN1A
cyclin dependent kinase inhibitor 1A
ISO
RGD
PMID:15646812
RGD:8662837
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
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CHD4
chromodomain helicase DNA binding protein 4
exacerbates
ISO
mRNA:increased expression:larynx (human)
RGD
PMID:33315534
RGD:153323310
NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076
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EGFR
epidermal growth factor receptor
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
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ERBB2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
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ERBB3
erb-b2 receptor tyrosine kinase 3
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994
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ERBB4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
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FOXL2
forkhead box L2
exacerbates
ISO
mRNA:increased expression:larynx (human)
RGD
PMID:32517588
RGD:151667913
NCBI chr 3:135,968,040...135,980,063
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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:24074040 PMID:27188866 PMID:28641905
RGD:152995454 RGD:152995455 RGD:152995493
NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
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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 chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909
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MLH1
mutL homolog 1
disease_progression
ISO
mRNA:decreased expression:larynx
RGD
PMID:23787767
RGD:126848783
NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
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MMP2
matrix metallopeptidase 2
ISO
RGD
PMID:17786346
RGD:5130203
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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MSH2
mutS homolog 2
disease_progression
ISO
mRNA:decreased expression:larynx
RGD
PMID:23787767
RGD:126848783
NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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NAT2
N-acetyltransferase 2
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:16155914 PMID:19922706
RGD:5131602 RGD:5131856
NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327
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PLCG1
phospholipase C gamma 1
ameliorates
ISO
mRNA:increased expression:larynx (human)
RGD
PMID:33466212
RGD:151665160
NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145
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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 chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
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XDH
xanthine dehydrogenase
ISO
protein:increased activity:larynx
RGD
PMID:8138195
RGD:152995273
NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
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XRCC1
X-ray repair cross complementing 1
ISO
ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma
ClinVar
NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
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NFIX
nuclear factor I X
ISO
ClinVar Annotator: match by term: Congenital laryngomalacia
ClinVar
PMID:25741868
NCBI chr19:12,557,020...12,660,316
Ensembl chr19:13,327,690...13,402,406
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CXCL12
C-X-C motif chemokine ligand 12
exacerbates
ISO
protein:increased expression: mucosa of larynx (human)
RGD
PMID:23259294
RGD:152177474
NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231
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CXCR4
C-X-C motif chemokine receptor 4
exacerbates
ISO
protein:increased expression: mucosa of larynx (human)
RGD
PMID:23259294
RGD:152177474
NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647
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ERCC5
ERCC excision repair 5, endonuclease
susceptibility
ISO
DNA:missense mutation:CDS:p.D1104H (human)
RGD
PMID:19444904
RGD:155260337
NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182
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ERCC6
ERCC excision repair 6, chromatin remodeling factor
susceptibility
ISO
DNA:missense mutation:CDS:p.R1230P (human)
RGD
PMID:19444904
RGD:155260337
NCBI chr10:44,703,720...44,784,948
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GPX1
glutathione peroxidase 1
susceptibility
ISO
DNA:missense mutation:CDS: (rs1050450) (human)
RGD
PMID:23516596
RGD:152998903
NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
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GSTM1
glutathione S-transferase mu 1
ISO
DNA:deletion: :
RGD
PMID:19252926
RGD:4140943
Ensembl chr 1:127,979,238...128,010,411
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GSTM3
glutathione S-transferase mu 3
ISO
RGD
PMID:10067818
RGD:5135043
NCBI chr 1:112,380,890...112,384,988
Ensembl chr 1:127,957,008...127,960,578
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MAP2K7
mitogen-activated protein kinase kinase 7
ameliorates
ISO
mRNA:increased expression:larynx (human)
RGD
PMID:32791689
RGD:155256869
NCBI chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512
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NOD2
nucleotide binding oligomerization domain containing 2
onset
ISO
DNA:insertion:Cds: 3020_3021insC (human)
RGD
PMID:20223031
RGD:5131515
NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773
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VEGFA
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:20967863
RGD:126925200
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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ECM1
extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: Lipid proteinosis
OMIM ClinVar
PMID:11929856 PMID:12472532 PMID:12603844 PMID:15327549 PMID:16172042 PMID:17063986 PMID:17199583 PMID:17927570 PMID:24413997 PMID:24708644 PMID:25529926 PMID:25741868 PMID:26803878 PMID:28492532 PMID:28720532 More...
NCBI chr 1:125,853,337...125,858,904
Ensembl chr 1:129,502,041...129,507,819
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MYH14
myosin heavy chain 14
ISO
ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss
OMIM ClinVar
PMID:21480433 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25741868 PMID:26257172 PMID:26346818 PMID:26752647 PMID:27393652 PMID:27911912 PMID:28492532 PMID:30311386 PMID:31231018 PMID:35274842 More...
NCBI chr19:47,169,303...47,273,815
Ensembl chr19:56,081,644...56,177,902
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TUBB4A
tubulin beta 4A class IVa
ISO
ClinVar Annotator: match by term: Torsion dystonia 4
OMIM ClinVar
PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 PMID:18851904 PMID:23424103 PMID:23582646 PMID:23595291 PMID:24526230 PMID:24706558 PMID:24785942 PMID:24850488 PMID:25085639 PMID:25326635 PMID:25545912 PMID:25741868 PMID:26643067 PMID:28275661 PMID:28492532 PMID:28592043 PMID:28791129 PMID:28973395 PMID:30079973 PMID:31692161 More...
NCBI chr19:5,521,425...5,529,958
Ensembl chr19:6,441,323...6,451,785
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
18006
sensory system disease
6622
Otorhinolaryngologic Diseases
1663
laryngeal disease
64
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 +
45
Laryngeal Nerve Injuries +
0
Laryngocele
0
Laryngopharyngeal Reflux +
0
Supraglottitis +
0
Vocal Cord Dysfunction +
0
Vocal Cord Paralysis +
11
Voice Disorders +
4
acquired laryngomalacia
0
amyotrophic lateral sclerosis type 21
1
laryngitis +
0
laryngomalacia +
1
laryngostenosis
0
Path 2
disease
18006
disease of anatomical entity
15252
nervous system disease
13275
Neurologic Manifestations
9630
sensory system disease
6622
Otorhinolaryngologic Diseases
1663
laryngeal disease
64
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 +
45
Laryngeal Nerve Injuries +
0
Laryngocele
0
Laryngopharyngeal Reflux +
0
Supraglottitis +
0
Vocal Cord Dysfunction +
0
Vocal Cord Paralysis +
11
Voice Disorders +
4
acquired laryngomalacia
0
amyotrophic lateral sclerosis type 21
1
laryngitis +
0
laryngomalacia +
1
laryngostenosis
0