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
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:28166811 PMID:28492532 PMID:29109432 PMID:30015619 PMID:30563574 PMID:31019288 More...
NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166
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Slc29a3
solute carrier family 29 member 3
ISO
ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:29751792 PMID:31464584
NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
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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 chr18:11,798,905...11,833,415
Ensembl chr18:11,798,900...11,830,818
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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:21519004 PMID:21840889 PMID:25231362 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26848201 PMID:27549087 PMID:28492532 PMID:32376792 PMID:33187793 More...
NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
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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 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
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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 chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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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
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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 chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613
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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 chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500
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Ranbp2
RAN binding protein 2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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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 chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
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Sult1c2a
sulfotransferase family 1C member 2A
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734
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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
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Dctn1
dynactin subunit 1
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B
OMIM ClinVar
PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16505168 PMID:17576681 PMID:17824900 PMID:18812314 PMID:19279216 PMID:19506225 PMID:22777741 PMID:23143281 PMID:24627108 PMID:25025039 PMID:25382069 PMID:25635128 PMID:25741868 PMID:26392352 PMID:26429889 PMID:26467025 PMID:26662454 PMID:27132499 PMID:28130640 PMID:28430856 PMID:28492532 PMID:32028661 PMID:32402491 PMID:33369814 More...
NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:25635128
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Gars1
glycyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:25635128
NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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Mfn2
mitofusin 2
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:28492532
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mpz
myelin protein zero
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:28492532
NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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Nefl
neurofilament light chain
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Plekhg5
pleckstrin homology and RhoGEF domain containing G5
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:16728649 PMID:17564964
NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
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Scn11a
sodium voltage-gated channel alpha subunit 11
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:24776970 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29213238
NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044
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Setx
senataxin
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:24533459
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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Sh3tc2
SH3 domain and tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:28492532
NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:20037586 PMID:20460441 PMID:21336783 PMID:22702953 PMID:25900305 PMID:26110311 PMID:26467025 PMID:28492532 More...
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Wrap53
WD repeat containing, antisense to TP53
disease_progression
ISO
RGD
PMID:28849066
RGD:21081521
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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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 PMID:11810295 PMID:12915477 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25741868 PMID:26635394 PMID:28492532 PMID:35314946 More...
NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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Ackr3
atypical chemokine receptor 3
disease_progression
ISO
protein:increased expression:larynx (human)
RGD
PMID:16494043
RGD:152025548
NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
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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 chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Kmt2c
lysine methyltransferase 2C
ISO
mRNA:decreased expression:larynx
RGD
PMID:25633166
RGD:151356763
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Socs1
suppressor of cytokine signaling 1
severity
ISO
RGD
PMID:20164024
RGD:150573814
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Traf6
TNF receptor associated factor 6
disease_progression
ISO
RGD
PMID:20164024
RGD:150573814
NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507
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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 7:69,116,758...69,224,490
Ensembl chr 7:69,116,761...69,224,903
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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 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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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 2:226,748,724...226,763,183
Ensembl chr 2:226,741,788...226,763,182
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Egfr
epidermal growth factor receptor
severity
ISO
protein:increased expression:tumor (human)
RGD
PMID:8883413
RGD:5131485
NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
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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 chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Gstp1
glutathione S-transferase pi 1
ISO
protein:increased expression:larynx
RGD
PMID:18335753
RGD:4140949
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Mir10a
microRNA 10a
sexual_dimorphism
ISO
miRNA:decreased expression:larynx epithelium (human)
RGD
PMID:25266939
RGD:153344531
NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
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Mir34c
microRNA 34c
sexual_dimorphism
ISO
miRNA:increased expression:larynx epithelium (human)
RGD
PMID:25266939
RGD:153344531
NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:17786346
RGD:5130203
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nat1
N-acetyltransferase 1
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:12037388
RGD:5131864
NCBI chr16:22,218,217...22,238,516
Ensembl chr16:22,208,194...22,238,520
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Ptgs2
prostaglandin-endoperoxide synthase 2
severity
ISO
protein:increased expression:larynx
RGD
PMID:20429377
RGD:5135434
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:16299231
RGD:1581365
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:19736197
RGD:5135499
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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Serpina3n
serine (or cysteine) peptidase inhibitor, clade A, member 3N
ISO
protein:decreased expression:serum
RGD
PMID:16273852
RGD:5147435
NCBI chr 6:123,323,632...123,331,166
Ensembl chr 6:123,323,629...123,332,433
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Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
RGD
PMID:10618282
RGD:5147846
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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Ada
adenosine deaminase
ISO
protein:decreased activity:larynx
RGD
PMID:8138195
RGD:152995273
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Cat
catalase
ISO
protein:increased activity:larynx
RGD
PMID:8138195
RGD:152995273
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cdc73
cell division cycle 73
disease_progression
ISO
protein:decreased expression:larynx (human)
RGD
PMID:27334641
RGD:150539447
NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
RGD
PMID:15646812
RGD:8662837
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Chd4
chromodomain helicase DNA binding protein 4
exacerbates
ISO
mRNA:increased expression:larynx (human)
RGD
PMID:33315534
RGD:153323310
NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
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Egfr
epidermal growth factor receptor
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Erbb2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Erbb3
erb-b2 receptor tyrosine kinase 3
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
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Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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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
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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:28641905 PMID:24074040 PMID:27188866
RGD:152995454 , RGD:152995493 , RGD:152995455
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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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 chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
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Mir10a
microRNA 10a
severity
ISO
miRNA:decreased expression:blood serum (human)
RGD
PMID:35117730
RGD:153344530
NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
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Mir136
microRNA 136
ISO
RNA:decreased expression:larynx (human)
RGD
PMID:32014687
RGD:153344610
NCBI chr 6:128,549,096...128,549,177
Ensembl chr 6:128,549,096...128,549,177
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Mir21
microRNA 21
exacerbates
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:35117730
RGD:153344530
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir31
microRNA 31
disease_progression
ISO
RNA:decreased expression:mucosa of larynx (human)
RGD
PMID:29737563
RGD:152998933
NCBI chr 5:103,599,038...103,599,143
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Mlh1
mutL homolog 1
disease_progression
ISO
mRNA:decreased expression:larynx
RGD
PMID:23787767
RGD:126848783
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:17786346
RGD:5130203
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Msh2
mutS homolog 2
disease_progression
ISO
mRNA:decreased expression:larynx
RGD
PMID:23787767
RGD:126848783
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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Nat2
N-acetyltransferase 2
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:19922706 PMID:16155914
RGD:5131602 , RGD:5131856
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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Plcg1
phospholipase C, gamma 1
ameliorates
ISO
mRNA:increased expression:larynx (human)
RGD
PMID:33466212
RGD:151665160
NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
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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 chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Xdh
xanthine dehydrogenase
ISO
protein:increased activity:larynx
RGD
PMID:8138195
RGD:152995273
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Nfix
nuclear factor I X
ISO
ClinVar Annotator: match by term: Congenital laryngomalacia
ClinVar
PMID:25741868
NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
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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 chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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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 chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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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 chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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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 chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Gpx1
glutathione peroxidase 1
susceptibility
ISO
DNA:missense mutation:CDS: (rs1050450) (human)
RGD
PMID:23516596
RGD:152998903
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gstm1
glutathione S-transferase mu 1
ISO
DNA:deletion: :
RGD
PMID:19252926
RGD:4140943
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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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
G
Gstm5
glutathione S-transferase, mu 5
ISO
RGD
PMID:10067818
RGD:5135043
NCBI chr 2:195,531,627...195,534,562
Ensembl chr 2:195,531,495...195,534,553
G
Map2k7
mitogen activated protein kinase kinase 7
ameliorates
ISO
mRNA:increased expression:larynx (human)
RGD
PMID:32791689
RGD:155256869
NCBI chr12:2,591,312...2,604,211
Ensembl chr12:2,591,219...2,604,222
G
Nod2
nucleotide-binding oligomerization domain containing 2
onset
ISO
DNA:insertion:Cds: 3020_3021insC (human)
RGD
PMID:20223031
RGD:5131515
NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
G
Vegfa
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:20967863
RGD:126925200
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Ecm1
extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: Lipid proteinosis
ClinVar OMIM RGD
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 PMID:11929856 More...
RGD:734912
NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671
G
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:28492532 PMID:30311386 PMID:31231018 PMID:35274842 More...
NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836
G
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:28492532 More...
NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
18256
sensory system disease
6575
Otorhinolaryngologic Diseases
1678
laryngeal disease
79
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 +
21
Voice Disorders +
4
acquired laryngomalacia
0
amyotrophic lateral sclerosis type 21
1
laryngitis +
0
laryngomalacia +
1
laryngostenosis
0
Path 2
disease
18256
disease of anatomical entity
17617
nervous system disease
13267
Neurologic Manifestations
9338
sensory system disease
6575
Otorhinolaryngologic Diseases
1678
laryngeal disease
79
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 +
21
Voice Disorders +
4
acquired laryngomalacia
0
amyotrophic lateral sclerosis type 21
1
laryngitis +
0
laryngomalacia +
1
laryngostenosis
0