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 QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) 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) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 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   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) 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 Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Skin Abnormalities
go back to main search page
Accession:DOID:9001946 term browser browse the term
Definition:Congenital structural abnormalities of the skin.
Synonyms:exact_synonym: Skin Abnormality
 primary_id: MESH:D012868


show annotations for term's descendants           Sort by:
Skin Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apaf1 apoptotic peptidase activating factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9753320 NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540 		JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10195895 PMID:10195896 PMID:10346820 NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17470448 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10631169 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Gorab golgin, RAB6-interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:18997784 NCBI chr13:75,745,678...75,762,307
Ensembl chr13:75,745,680...75,762,298 		JBrowse link
G Hccs holocytochrome c synthase ISO microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C RGD PMID:17033964 RGD:1600417 NCBI chr  X:24,932,943...24,942,376
Ensembl chr  X:24,933,002...24,942,366 		JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO atrichia with papular lesions, OMIM:209500 RGD PMID:9856480 RGD:1599576 NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17041601 NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24494196 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Supv3l1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chr20:30,378,542...30,399,076
Ensembl chr20:30,378,550...30,399,054 		JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10227294 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
G Zfp469 zinc finger protein 469 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18452888 NCBI chr19:50,282,434...50,324,010 JBrowse link
ACCES Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba2 ubiquitin-like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: ACCES syndrome | ClinVar Annotator: match by term: APLASIA CUTIS CONGENITA WITH ECTRODACTYLY SKELETAL SYNDROME ClinVar
OMIM		 PMID:11920840 PMID:25741868 PMID:28110515 PMID:28492532 PMID:31332306 More... NCBI chr 1:86,775,239...86,802,685
Ensembl chr 1:86,775,244...86,802,682 		JBrowse link
acrodermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO mRNA:decreased expression:skin RGD PMID:17606602 RGD:7483609 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629 		JBrowse link
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337 		JBrowse link
G Mkln1 muskelin 1 ISO Acrodermatitis, lethal OMIA PMID:2402865 PMID:3710872 PMID:8981276 PMID:9256960 PMID:10563006 More... NCBI chr 4:59,815,912...60,124,047
Ensembl chr 4:60,002,464...60,123,993 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16714095 PMID:16819703 PMID:16889938 PMID:17190629 PMID:17202136 NCBI chr 7:108,333,380...108,337,553
Ensembl chr 7:108,333,381...108,337,553 		JBrowse link
acrodermatitis enteropathica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a4 solute carrier family 39 member 4 ISO DNA:deletions, snp, missense mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 More... RGD:1599005 NCBI chr 7:108,333,380...108,337,553
Ensembl chr 7:108,333,381...108,337,553 		JBrowse link
Adams-Oliver syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap31 Rho GTPase activating protein 31 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome		 CTD
ClinVar		 PMID:28492532 NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome		 CTD
ClinVar
RGD		 PMID:26299364 PMID:29924900 PMID:33899511 RGD:155663357 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome
DNA:mutations:cds:		 CTD
ClinVar
RGD		 PMID:21820096 PMID:24033266 PMID:25558065 PMID:25824905 PMID:28492532 More... RGD:155791566 NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552 		JBrowse link
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome		 CTD
ClinVar		 PMID:23522784 PMID:25558065 PMID:25741868 NCBI chr 4:129,718,897...129,756,558
Ensembl chr 4:129,718,901...129,756,445 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome		 CTD
ClinVar		 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353 		JBrowse link
Adams-Oliver Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap31 Rho GTPase activating protein 31 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 1 OMIM
ClinVar		 PMID:474617 PMID:16451141 PMID:21565291 PMID:24033266 PMID:25741868 More... NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 1 ClinVar PMID:25741868 PMID:26457590 PMID:29924900 NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552 		JBrowse link
Adams-Oliver Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 2 OMIM
ClinVar		 PMID:8849019 PMID:16199547 PMID:17159513 PMID:21820096 PMID:23522784 More... NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 2 ClinVar PMID:18593716 PMID:20981092 PMID:25741868 PMID:28492532 PMID:29641532 More... NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
Adams-Oliver Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 3 OMIM
ClinVar		 PMID:22883147 PMID:25741868 PMID:28492532 PMID:29924900 NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353 		JBrowse link
Adams-Oliver Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23522784 PMID:23860037 More... NCBI chr 4:129,718,897...129,756,558
Ensembl chr 4:129,718,901...129,756,445 		JBrowse link
Adams-Oliver Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,394,942...8,401,559
Ensembl chr 3:8,392,889...8,401,321 		JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178 		JBrowse link
G Arrdc1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,735,002...7,742,195
Ensembl chr 3:7,735,011...7,742,197 		JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,320,495...8,323,495
Ensembl chr 3:8,305,920...8,323,495 		JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091 		JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,746,176...8,806,072
Ensembl chr 3:8,746,176...8,806,072 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237 		JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194 		JBrowse link
G Cimip2a ciliary microtubule inner protein 2A ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,030,548...8,038,370
Ensembl chr 3:8,033,246...8,037,961 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Cysrt1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,054,195...8,057,846
Ensembl chr 3:8,053,482...8,059,721 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,169,948...9,171,881
Ensembl chr 3:9,169,793...9,180,551 		JBrowse link
G Dph7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,770,385...7,778,994
Ensembl chr 3:7,770,379...7,778,982 		JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355 		JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363 		JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688 		JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092 		JBrowse link
G Fcnb ficolin B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:11,393,771...11,402,198
Ensembl chr 3:11,393,739...11,402,151 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260 		JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335 		JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667 		JBrowse link
G Lcn1 lipocalin 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577 		JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,312,404...8,320,206
Ensembl chr 3:8,305,920...8,323,495 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918 		JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
G Lrrc26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,102,361...8,103,687
Ensembl chr 3:8,102,361...8,103,687 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003 		JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006 		JBrowse link
G Mir126b microRNA 126b ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,415,087...9,415,159 JBrowse link
G Mrpl41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,780,658...7,781,576
Ensembl chr 3:7,779,143...7,782,818 		JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:11,801,310...11,806,341
Ensembl chr 3:11,801,310...11,806,313 		JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660 		JBrowse link
G Ndor1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,062,629...8,070,873
Ensembl chr 3:8,062,630...8,070,860 		JBrowse link
G Nelfb negative elongation factor complex member B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,010,883...8,027,403
Ensembl chr 3:8,010,888...8,027,403 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 OMIM
ClinVar		 PMID:1621771 PMID:9536098 PMID:15959515 PMID:16025100 PMID:16199547 More... NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Noxa1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,895,488...7,907,011
Ensembl chr 3:7,895,488...7,905,967 		JBrowse link
G Npdc1 neural proliferation, differentiation and control, 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Nrarp Notch-regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133 		JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614 		JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,505,990...8,509,269
Ensembl chr 3:8,505,990...8,509,269 		JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:11,520,522...11,558,240
Ensembl chr 3:11,520,729...11,558,239 		JBrowse link
G Paep progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430 		JBrowse link
G Paxx PAXX, non-homologous end joining factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,274,762...8,276,338
Ensembl chr 3:8,274,762...8,276,521 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,392,926...8,394,325 JBrowse link
G Pierce1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:11,797,031...11,801,568
Ensembl chr 3:11,797,031...11,801,568 		JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844 		JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497 		JBrowse link
G Ppp1r26 protein phosphatase 1, regulatory subunit 26 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:11,781,504...11,790,076
Ensembl chr 3:11,781,295...11,790,073 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833 		JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664 		JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611 		JBrowse link
G Rnf208 ring finger protein 208 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,057,808...8,059,721
Ensembl chr 3:8,043,685...8,059,844 		JBrowse link
G Rnf224 ring finger protein 224 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,050,353...8,052,861
Ensembl chr 3:8,051,475...8,051,945 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518 		JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388 		JBrowse link
G Ssna1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,084,949...8,086,417
Ensembl chr 3:8,084,974...8,086,356 		JBrowse link
G Stpg3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,028,122...8,030,546
Ensembl chr 3:8,028,131...8,034,601 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491 		JBrowse link
G Tmem203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867 		JBrowse link
G Tmem210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,100,595...8,101,643
Ensembl chr 3:8,100,590...8,101,643 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349 		JBrowse link
G Tor4a torsin family 4, member A ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042 		JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642 		JBrowse link
G Traf2 Tnf receptor-associated factor 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538 		JBrowse link
G Tubb4b tubulin, beta 4B class IVb ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,037,844...8,040,294
Ensembl chr 3:8,037,799...8,040,296 		JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443 		JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028 		JBrowse link
G Zmynd19 zinc finger, MYND-type containing 19 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,758,086...7,778,982
Ensembl chr 3:7,758,133...7,767,514 		JBrowse link
Adams-Oliver Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 6 OMIM
ClinVar		 PMID:616589 PMID:25741868 PMID:26299364 PMID:28492532 PMID:29924900 More... NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931 		JBrowse link
ADULT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome OMIM
ClinVar		 PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 More... NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
Anetoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO protein:decreased expression:skin: RGD PMID:6736354 RGD:9585766 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:9274625 RGD:7394827 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
DNA:missense mutations:exon:multiple
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 More... RGD:11568643 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
Annular Epidermolytic Ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Annular epidermolytic ichthyosis ClinVar PMID:8751983 PMID:10053007 PMID:14708600 PMID:15214894 PMID:22250628 More... NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844 		JBrowse link
G Krt10 keratin 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Annular epidermolytic ichthyosis		 CTD
ClinVar		 PMID:22035476 PMID:25741868 PMID:28492532 NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701 		JBrowse link
Annular Epidermolytic Ichthyosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt10 keratin 10 ISO OMIM NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701 		JBrowse link
Annular Epidermolytic Ichthyosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic, 2 OMIM
ClinVar		 PMID:10053007 PMID:15214894 PMID:22250628 PMID:25741868 PMID:28492532 More... NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844 		JBrowse link
Arthrogryposis and Ectodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otof otoferlin ISO ClinVar Annotator: match by term: Trichooculodermovertebral syndrome ClinVar PMID:35802133 PMID:36633841 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631 		JBrowse link
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:26077881 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 More... NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 More... NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268 		JBrowse link
G Ift140 intraflagellar transport 140 ISS OMIM:208500 MouseDO NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433 		JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:25741868 NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome		 CTD
ClinVar		 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 More... NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 More... NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029 		JBrowse link
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024 		JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:1,453,226...1,463,990
Ensembl chr 8:1,452,282...1,463,966 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261 		JBrowse link
G Alkbh8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 6:378,779...449,382
Ensembl chr 6:378,100...452,165 		JBrowse link
G Amotl1 angiomotin-like 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,348,651...11,467,564
Ensembl chr 8:11,353,674...11,467,573 		JBrowse link
G Ankrd49 ankyrin repeat domain 49 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,627,512...11,632,200
Ensembl chr 8:11,627,518...11,632,207 		JBrowse link
G Arhgap20 Rho GTPase activating protein 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:52,074,472...52,155,739
Ensembl chr 8:52,074,158...52,155,739 		JBrowse link
G Arhgap42 Rho GTPase activating protein 42 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:6,154,759...6,384,497
Ensembl chr 8:6,156,865...6,384,870 		JBrowse link
G Atm ATM serine/threonine kinase ISO
IMP		 ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome
DNA:deletion:exon:
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:133608 PMID:1098053 PMID:1160401 PMID:1300551 PMID:1632451 More... RGD:10053611, RGD:12879399 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
G Bak1 BCL2-antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator susceptibility ISO DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bik BCL2-interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr 7:114,672,277...114,691,296
Ensembl chr 7:114,672,277...114,691,296 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796 		JBrowse link
G C8h11orf52 similar to human chromosome 11 open reading frame 52 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome ClinVar PMID:1098053 PMID:1160401 PMID:1849795 PMID:1943118 PMID:2166257 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
G Casp1 caspase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383 		JBrowse link
G Casp12 caspase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037 		JBrowse link
G Casp4 caspase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:2,599,017...2,635,097
Ensembl chr 8:2,598,876...2,635,092 		JBrowse link
G Ccdc82 coiled-coil domain containing 82 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,227,727...10,265,963
Ensembl chr 8:10,228,430...10,265,963 		JBrowse link
G Cep126 centrosomal protein 126 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:5,200,576...5,267,740
Ensembl chr 8:5,218,509...5,267,467 		JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,669,588...10,689,257
Ensembl chr 8:10,669,590...10,689,249 		JBrowse link
G Cfap300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807 		JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420 		JBrowse link
G Cntn5 contactin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:6,735,715...7,967,727
Ensembl chr 8:6,738,239...7,967,957 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
G Cul5 cullin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,012,963...54,066,751
Ensembl chr 8:54,016,006...54,066,666 		JBrowse link
G Cwc15 CWC15 spliceosome-associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,305,401...11,316,326
Ensembl chr 8:11,305,424...11,316,325 		JBrowse link
G Cwf19l2 CWF19 like cell cycle control factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 6:290,148...356,636
Ensembl chr 6:281,685...356,604 		JBrowse link
G Dcun1d5 defective in cullin neddylation 1 domain containing 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,412,266...4,433,380
Ensembl chr 8:4,412,221...4,433,367 		JBrowse link
G Ddi1 DNA-damage inducible 1 homolog 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:3,596,658...3,598,505
Ensembl chr 8:3,595,149...3,598,533 		JBrowse link
G Ddx10 DEAD-box helicase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,488,656...53,643,373
Ensembl chr 8:53,488,656...53,643,373 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia ClinVar PMID:27884168 PMID:28492532 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Elmod1 ELMO domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,298,363...54,355,348
Ensembl chr 8:54,298,363...54,355,140 		JBrowse link
G Endod1 endonuclease domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,209,123...11,238,680
Ensembl chr 8:11,211,110...11,238,892 		JBrowse link
G Exph5 exophilin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169 		JBrowse link
G Fam76b family with sequence similarity 76, member B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,689,396...10,711,847
Ensembl chr 8:10,688,963...10,711,861 		JBrowse link
G Fdx1 ferredoxin 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:52,268,536...52,287,344
Ensembl chr 8:52,268,536...52,287,414 		JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308 		JBrowse link
G Fut4 fucosyltransferase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,586,721...11,590,682
Ensembl chr 8:11,586,721...11,590,682 		JBrowse link
G Gria4 glutamate ionotropic receptor AMPA type subunit 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979 		JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203 		JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 PMID:22466704 PMID:22466704 RGD:9681455, RGD:9681455, RGD:9681455 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514 		JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,093,267...51,094,864
Ensembl chr 8:51,081,342...51,094,533 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Jrkl JRK-like ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,224,172...10,227,068
Ensembl chr 8:10,224,172...10,227,068 		JBrowse link
G Kbtbd3 kelch repeat and BTB domain containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:1,464,162...1,491,144
Ensembl chr 8:1,473,247...1,487,943 		JBrowse link
G Kdm4d lysine demethylase 4D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,279,756...11,304,920
Ensembl chr 8:11,268,859...11,305,290 		JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330 		JBrowse link
G LOC100125362 hypothetical protein LOC100125362 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,062,361...53,069,882
Ensembl chr 8:53,062,360...53,069,538 		JBrowse link
G Maml2 mastermind-like transcriptional coactivator 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,268,611...10,588,307
Ensembl chr 8:10,268,665...10,587,107 		JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327 		JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp10 matrix metallopeptidase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035 		JBrowse link
G Mmp27 matrix metallopeptidase 27 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,745,887...4,755,806
Ensembl chr 8:4,745,883...4,755,806 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520 		JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279 		JBrowse link
G Msantd4 Myb/SANT DNA binding domain containing 4 with coiled-coils ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:1,516,979...1,527,587
Ensembl chr 8:1,516,979...1,527,587 		JBrowse link
G Mtmr2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172 		JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830 		JBrowse link
G Npat nuclear protein, co-activator of histone transcription ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 NCBI chr 8:53,932,993...53,970,875
Ensembl chr 8:53,932,993...53,970,875 		JBrowse link
G Pdgfd platelet derived growth factor D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395 		JBrowse link
G Pgr progesterone receptor ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:6,073,216...6,131,552
Ensembl chr 8:6,072,673...6,131,344 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656 		JBrowse link
G Piwil4 piwi-like RNA-mediated gene silencing 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,536,520...11,579,883
Ensembl chr 8:11,536,520...11,579,761 		JBrowse link
G Poglut3 protein O-glucosyltransferase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,777,614...53,795,404
Ensembl chr 8:53,777,785...53,795,399 		JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819 		JBrowse link
G Pou2af2 POU class 2 homeobox associating factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,607,780...51,648,790
Ensembl chr 8:51,607,763...51,648,628 		JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855 		JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit A beta ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485 		JBrowse link
G Rab39a RAB39A, member RAS oncogene family ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,088,744...54,105,756
Ensembl chr 8:54,088,129...54,106,483 		JBrowse link
G Rdx radixin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
G Sesn3 sestrin 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,133,822...11,189,436
Ensembl chr 8:11,133,678...11,185,842 		JBrowse link
G Sik2 salt-inducible kinase 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415 		JBrowse link
G Slc35f2 solute carrier family 35, member F2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,159,970...54,203,614
Ensembl chr 8:54,159,970...54,203,612 		JBrowse link
G Sln sarcolipin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,221,389...54,248,110
Ensembl chr 8:54,243,542...54,247,791 		JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729 		JBrowse link
G Tmem123 transmembrane protein 123 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,922,098...4,952,228
Ensembl chr 8:4,922,098...4,952,224 		JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010 		JBrowse link
G Zc3h12c zinc finger CCCH type containing 12C ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315 		JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder		 CTD
ClinVar		 PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 ISO ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 OMIM
ClinVar		 PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374 		JBrowse link
Ataxia with Oculomotor Apraxia Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920 		JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 OMIM
ClinVar		 PMID:2433832 PMID:8445618 PMID:8684395 PMID:9845372 PMID:10612394 More... NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279 		JBrowse link
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 OMIM
ClinVar		 PMID:24911150 PMID:25741868 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
Autoinflammation with Arthritis and Dyskeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:16918630 PMID:17377159 PMID:24033266 PMID:25741868 PMID:27965258 More... NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180 		JBrowse link
Autosomal Dominant Dyskeratosis Congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Terc telomerase RNA component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984 		JBrowse link
autosomal dominant dyskeratosis congenita 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt3 actin-related protein T3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,799,061...112,801,021
Ensembl chr 2:112,799,011...112,801,075 		JBrowse link
G Gpr160 G protein-coupled receptor 160 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,483,364...112,563,072
Ensembl chr 2:112,484,935...112,563,148 		JBrowse link
G Inpp4a inositol polyphosphate-4-phosphatase type I A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:15849264 PMID:21931702 PMID:25741868 NCBI chr 9:39,528,245...39,650,574
Ensembl chr 9:39,528,674...39,646,581 		JBrowse link
G Lrrc31 leucine rich repeat containing 31 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,702,844...112,725,431
Ensembl chr 2:112,700,136...112,724,322 		JBrowse link
G Lrrc34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,752,294...112,774,463
Ensembl chr 2:112,754,578...112,774,459 		JBrowse link
G Lrriq4 leucine-rich repeats and IQ motif containing 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,729,298...112,756,338
Ensembl chr 2:112,729,417...112,753,234 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:25741868 PMID:27192671 NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590 		JBrowse link
G Mynn myoneurin ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,779,654...112,797,188
Ensembl chr 2:112,779,657...112,796,397 		JBrowse link
G Phc3 polyhomeotic homolog 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,408,709...112,483,719
Ensembl chr 2:112,408,531...112,476,540 		JBrowse link
G Prkci protein kinase C, iota ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,321,919...112,382,305
Ensembl chr 2:112,321,929...112,382,352 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29344583 More... NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
G Samd7 sterile alpha motif domain containing 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,624,942...112,639,549
Ensembl chr 2:112,624,942...112,639,549 		JBrowse link
G Sec62 SEC62 homolog, preprotein translocation factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,570,810...112,607,576
Ensembl chr 2:112,570,819...112,601,814 		JBrowse link
G Skil SKI-like proto-oncogene ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,247,047...112,275,176
Ensembl chr 2:112,247,051...112,275,080 		JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 OMIM
ClinVar		 PMID:10721988 PMID:11574891 PMID:12090986 PMID:12676774 PMID:12972604 More... NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:12167716 PMID:15885610 PMID:16247010 PMID:18042801 PMID:18635888 More... NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 More... NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523 		JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:18252230 PMID:18669893 PMID:19090550 PMID:20301779 PMID:21199492 More... NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984 		JBrowse link
autosomal dominant dyskeratosis congenita 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd9 bromodomain containing 9 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,329,974...29,357,285
Ensembl chr 1:29,329,985...29,357,016 		JBrowse link
G Cep72 centrosomal protein 72 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,225,312...29,255,294
Ensembl chr 1:29,225,361...29,255,271 		JBrowse link
G Clptm1l CLPTM1-like ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530 		JBrowse link
G Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549 		JBrowse link
G Lpcat1 lysophosphatidylcholine acyltransferase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,766,070...29,816,401
Ensembl chr 1:29,766,071...29,816,401 		JBrowse link
G Mrpl36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,965,481...29,968,896
Ensembl chr 1:29,965,317...29,968,807 		JBrowse link
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 2:27,201,713...27,202,126
Ensembl chr 2:27,201,713...27,202,258 		JBrowse link
G Nkd2 NKD inhibitor of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,442,898...29,470,839
Ensembl chr 1:29,441,328...29,470,821 		JBrowse link
G Slc12a7 solute carrier family 12 member 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,472,692...29,554,246
Ensembl chr 1:29,472,692...29,554,302 		JBrowse link
G Slc6a18 solute carrier family 6 member 18 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,607,288...29,621,925
Ensembl chr 1:29,608,077...29,621,925 		JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,586,205...29,604,960
Ensembl chr 1:29,586,195...29,604,962 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 OMIM
ClinVar		 PMID:9536098 PMID:12167716 PMID:12629597 PMID:15814878 PMID:15885610 More... NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tppp tubulin polymerization promoting protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,257,111...29,281,134
Ensembl chr 1:29,261,255...29,281,134 		JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074 		JBrowse link
G Zdhhc11 zinc finger, DHHC-type containing 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 1:29,296,216...29,327,227
Ensembl chr 1:29,296,334...29,326,898 		JBrowse link
autosomal dominant dyskeratosis congenita 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3 ClinVar PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 More... NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523 		JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18252230 PMID:18669893 PMID:18979121 More... NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984 		JBrowse link
autosomal dominant dyskeratosis congenita 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 4 ClinVar PMID:23329068 PMID:23453664 PMID:23959892 PMID:25607374 PMID:25741868 More... NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
autosomal dominant dyskeratosis congenita 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		JBrowse link
G Acd ACD, shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25205116 PMID:25233904 More... NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461 		JBrowse link
G Agrp agouti related neuropeptide ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,447,992...33,523,068
Ensembl chr19:33,447,992...33,449,584 		JBrowse link
G Ap1g1 adaptor related protein complex 1 subunit gamma 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,744,666...37,831,131
Ensembl chr19:37,744,633...37,829,167 		JBrowse link
G Atp6v0d1 ATPase H+ transporting V0 subunit D1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,403,352...33,447,357
Ensembl chr19:33,403,355...33,447,450 		JBrowse link
G Atxn1l ataxin 1-like ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,700,341...37,711,524
Ensembl chr19:37,700,106...37,711,538 		JBrowse link
G B3gnt9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,129,740...33,134,048
Ensembl chr19:33,128,142...33,132,344 		JBrowse link
G Bean1 brain expressed, associated with NEDD4, 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:739,551...786,122
Ensembl chr19:739,551...787,537 		JBrowse link
G C19h16orf86 similar to human chromosome 16 open reading frame 86 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,596,591...33,598,703
Ensembl chr19:33,595,995...33,598,521 		JBrowse link
G Calb2 calbindin 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,114,435...38,141,438
Ensembl chr19:38,114,424...38,141,438 		JBrowse link
G Car7 carbonic anhydrase 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:429,063...438,478
Ensembl chr19:429,075...438,467 		JBrowse link
G Carmil2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965 		JBrowse link
G Cbfb core-binding factor subunit beta ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751 		JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775 		JBrowse link
G Cdh16 cadherin 16 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:360,824...371,008
Ensembl chr19:360,824...371,007 		JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084 		JBrowse link
G Cdh5 cadherin 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368 		JBrowse link
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142 		JBrowse link
G Ces2h carboxylesterase 2H ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:32,974,242...32,988,842
Ensembl chr19:32,974,242...32,988,830 		JBrowse link
G Ces3a carboxylesterase 3a ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:32,992,386...33,000,562 JBrowse link
G Ces4a carboxylesterase 4A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,011,731...33,030,119
Ensembl chr19:33,011,731...33,029,545 		JBrowse link
G Chst4 carbohydrate sulfotransferase 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,993,471...38,002,123
Ensembl chr19:37,991,417...38,003,608 		JBrowse link
G Chtf8 chromosome transmission fidelity factor 8 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,782,005...34,792,306
Ensembl chr19:34,781,856...34,792,578 		JBrowse link
G Ciao2b cytosolic iron-sulfur assembly component 2B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:344,194...346,068
Ensembl chr19:344,203...346,068 		JBrowse link
G Cklf chemokine-like factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:698,097...706,570
Ensembl chr19:698,033...706,570 		JBrowse link
G Clec18a C-type lectin domain family 18, member A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:39,038,498...39,053,425
Ensembl chr19:39,038,273...39,056,017 		JBrowse link
G Cmtm1 CKLF-like MARVEL transmembrane domain containing 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:651,641...661,184
Ensembl chr19:651,644...661,184 		JBrowse link
G Cmtm2b CKLF-like MARVEL transmembrane domain containing 2B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:640,837...651,872
Ensembl chr19:640,824...651,939 		JBrowse link
G Cmtm3 CKLF-like MARVEL transmembrane domain containing 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:622,563...630,721
Ensembl chr19:604,458...629,790 		JBrowse link
G Cmtm4 CKLF-like MARVEL transmembrane domain containing 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:576,203...616,109
Ensembl chr19:576,203...616,109 		JBrowse link
G Cmtr2 cap methyltransferase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,190,718...38,197,549
Ensembl chr19:38,190,642...38,197,804 		JBrowse link
G Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796 		JBrowse link
G Cog8 component of oligomeric golgi complex 8 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,951,625...34,962,377
Ensembl chr19:34,951,627...34,962,397 		JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123 		JBrowse link
G Ctrl chymotrypsin-like ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,827,279...33,829,129
Ensembl chr19:33,827,229...33,833,626 		JBrowse link
G Cyb5b cytochrome b5 type B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:35,062,871...35,096,741
Ensembl chr19:35,062,813...35,098,249 		JBrowse link
G Ddx19a DEAD-box helicase 19A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,942,497...38,962,853
Ensembl chr19:38,942,496...38,962,854 		JBrowse link
G Ddx19b DEAD-box helicase 19B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,968,215...38,998,907
Ensembl chr19:38,968,215...38,997,259 		JBrowse link
G Ddx28 DEAD-box helicase 28 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,909,799...33,911,729
Ensembl chr19:33,909,801...33,911,742 		JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654 		JBrowse link
G Dhx38 DEAH-box helicase 38 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,512,891...37,530,140
Ensembl chr19:37,512,891...37,530,140 		JBrowse link
G Dpep2 dipeptidase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,883,557...33,896,487
Ensembl chr19:33,885,478...33,891,954 		JBrowse link
G Dpep3 dipeptidase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,868,229...33,876,609
Ensembl chr19:33,868,242...33,873,896 		JBrowse link
G Dus2 dihydrouridine synthase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,906,517...33,954,922
Ensembl chr19:33,911,750...33,954,709 		JBrowse link
G Dync1li2 dynein, cytoplasmic 1 light intermediate chain 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:531,783...554,670
Ensembl chr19:531,812...554,670 		JBrowse link
G E2f4 E2F transcription factor 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,174,396...33,181,806
Ensembl chr19:33,174,410...33,181,806 		JBrowse link
G Edc4 enhancer of mRNA decapping 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,774,062...33,786,054
Ensembl chr19:33,774,055...33,787,758 		JBrowse link
G Elmo3 engulfment and cell motility 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,181,952...33,186,399
Ensembl chr19:33,182,036...33,186,410 		JBrowse link
G Enkd1 enkurin domain containing 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,592,074...33,596,552
Ensembl chr19:33,592,078...33,596,545 		JBrowse link
G Esrp2 epithelial splicing regulatory protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,034,559...34,041,726
Ensembl chr19:34,034,559...34,041,726 		JBrowse link
G Exoc3l1 exocyst complex component 3-like 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,166,836...33,174,371
Ensembl chr19:33,166,837...33,172,486 		JBrowse link
G Exosc6 exosome component 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:39,021,308...39,023,535
Ensembl chr19:39,022,183...39,023,515 		JBrowse link
G Fbxl8 F-box and leucine-rich repeat protein 8 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,142,653...33,147,268
Ensembl chr19:33,142,715...33,147,262 		JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418 		JBrowse link
G Fhod1 formin homology 2 domain containing 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,206,492...33,225,448
Ensembl chr19:33,206,492...33,225,356 		JBrowse link
G Gfod2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,599,689...33,647,060
Ensembl chr19:33,604,187...33,647,004 		JBrowse link
G Has3 hyaluronan synthase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,768,421...34,782,170
Ensembl chr19:34,771,982...34,782,592 		JBrowse link
G Hp haptoglobin ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899 		JBrowse link
G Hsf4 heat shock transcription factor 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,147,755...33,153,479
Ensembl chr19:33,147,755...33,153,479 		JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264 		JBrowse link
G Il34 interleukin 34 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,714,990...38,782,749
Ensembl chr19:38,714,991...38,764,000 		JBrowse link
G Ist1 IST1 factor associated with ESCRT-III ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,648,840...37,671,019
Ensembl chr19:37,648,095...37,670,956 		JBrowse link
G Kctd19 potassium channel tetramerization domain containing 19 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,259,869...33,292,011
Ensembl chr19:33,259,970...33,292,006 		JBrowse link
G Lcat lecithin cholesterol acyltransferase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231 		JBrowse link
G Lrrc29 leucine rich repeat containing 29 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,181,713...33,203,583
Ensembl chr19:33,188,352...33,203,545 		JBrowse link
G Lrrc36 leucine rich repeat containing 36 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,292,074...33,342,426
Ensembl chr19:33,292,074...33,360,141 		JBrowse link
G Marveld3 MARVEL domain containing 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,908,727...37,923,420
Ensembl chr19:37,905,638...37,923,420 		JBrowse link
G Matcap1 microtubule associated tyrosine carboxypeptidase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,158,053...33,166,784
Ensembl chr19:33,158,056...33,166,445 		JBrowse link
G Mir140 microRNA 140 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675 		JBrowse link
G Mir328 microRNA 328 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,184,766...33,184,849
Ensembl chr19:33,184,766...33,184,849 		JBrowse link
G Mtss2 MTSS I-BAR domain containing 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507 		JBrowse link
G Nae1 NEDD8 activating enzyme E1 subunit 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:446,015...472,145
Ensembl chr19:446,000...472,371 		JBrowse link
G Nfat5 nuclear factor of activated T-cells 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:35,199,737...35,286,675
Ensembl chr19:35,199,016...35,286,675 		JBrowse link
G Nfatc3 nuclear factor of activated T-cells 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,960,643...34,035,150
Ensembl chr19:33,960,852...34,035,150 		JBrowse link
G Nip7 nucleolar pre-rRNA processing protein NIP7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,962,557...34,964,700
Ensembl chr19:34,962,557...34,964,711 		JBrowse link
G Nob1 NIN1 (RPN12) binding protein 1 homolog ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:35,322,803...35,335,354
Ensembl chr19:35,322,669...35,346,815 		JBrowse link
G Nol3 nucleolar protein 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,154,061...33,158,250
Ensembl chr19:33,154,062...33,158,250 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nrn1l neuritin 1-like ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,786,419...33,787,879 JBrowse link
G Nutf2 nuclear transport factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,752,319...33,773,595
Ensembl chr19:33,752,291...33,773,591 		JBrowse link
G Pard6a par-6 family cell polarity regulator alpha ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,589,583...33,591,900
Ensembl chr19:33,589,542...33,591,900 		JBrowse link
G Pdf peptide deformylase (mitochondrial) ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,949,408...34,951,621
Ensembl chr19:34,948,256...34,951,515 		JBrowse link
G Pdp2 pyruvate dehydrogenase phosphatase catalytic subunit 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:386,408...394,068
Ensembl chr19:386,406...394,074 		JBrowse link
G Pdpr pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:39,065,226...39,109,695
Ensembl chr19:39,065,157...39,109,688 		JBrowse link
G Phaf1 phagosome assembly factor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,101,453...33,138,920
Ensembl chr19:33,101,490...33,138,914 		JBrowse link
G Phlpp2 PH domain and leucine rich repeat protein phosphatase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,835,125...37,901,804
Ensembl chr19:37,835,125...37,905,513 		JBrowse link
G Pkd1l3 polycystin 1 like 3, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,585,564...37,650,083
Ensembl chr19:37,585,725...37,650,155 		JBrowse link
G Pla2g15 phospholipase A2, group XV ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,050,685...34,068,070
Ensembl chr19:34,050,694...34,068,063 		JBrowse link
G Plekhg4 pleckstrin homology and RhoGEF domain containing G4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,251,788...33,266,490
Ensembl chr19:33,249,706...33,266,357 		JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577 		JBrowse link
G Pskh1 protein serine kinase H1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,794,919...33,827,040
Ensembl chr19:33,794,935...33,827,032 		JBrowse link
G Psmb10 proteasome 20S subunit beta 10 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,830,958...33,833,442
Ensembl chr19:33,827,229...33,833,626 		JBrowse link
G Ranbp10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,656,046...33,716,864
Ensembl chr19:33,656,046...33,717,033 		JBrowse link
G Ripor1 RHO family interacting cell polarization regulator 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,477,750...33,506,424
Ensembl chr19:33,477,793...33,506,420 		JBrowse link
G Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:354,184...357,424
Ensembl chr19:354,198...357,417 		JBrowse link
G Sf3b3 splicing factor 3b, subunit 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,782,749...38,820,271
Ensembl chr19:38,783,040...38,820,245 		JBrowse link
G Slc12a4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,838,418...33,860,369
Ensembl chr19:33,838,419...33,860,331 		JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,073,472...34,100,268
Ensembl chr19:34,074,286...34,100,268 		JBrowse link
G Slc7a6os solute carrier family 7, member 6 opposite strand ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,101,978...34,110,666
Ensembl chr19:34,101,982...34,110,651 		JBrowse link
G Slc9a5 solute carrier family 9 member A5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,225,481...33,246,913
Ensembl chr19:33,226,816...33,246,903 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749 		JBrowse link
G Sntb2 syntrophin, beta 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,831,657...34,922,325
Ensembl chr19:34,831,584...34,914,113 		JBrowse link
G St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,888,851...38,939,874
Ensembl chr19:38,923,999...38,939,869 		JBrowse link
G Tango6 transport and golgi organization 6 homolog ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,569,588...34,757,362
Ensembl chr19:34,569,635...34,754,639 		JBrowse link
G Tat tyrosine aminotransferase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031 		JBrowse link
G Terb1 telomere repeat binding bouquet formation protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:473,720...528,069
Ensembl chr19:473,218...528,084 		JBrowse link
G Terf2 telomeric repeat binding factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819 		JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540 		JBrowse link
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924 		JBrowse link
G Tmed6 transmembrane p24 trafficking protein 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,966,813...34,972,900
Ensembl chr19:34,966,813...34,972,900 		JBrowse link
G Tmem208 transmembrane protein 208 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,203,587...33,206,287
Ensembl chr19:33,203,587...33,212,183 		JBrowse link
G Tppp3 tubulin polymerization-promoting protein family member 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,345,897...33,349,610
Ensembl chr19:33,345,898...33,349,577 		JBrowse link
G Tradd TNFRSF1A-associated via death domain ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,136,148...33,142,714
Ensembl chr19:33,136,138...33,142,638 		JBrowse link
G Tsnaxip1 translin-associated factor X interacting protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,716,834...33,734,824
Ensembl chr19:33,716,785...33,734,824 		JBrowse link
G Txnl4b thioredoxin-like 4B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,530,157...37,539,827
Ensembl chr19:37,530,152...37,538,521 		JBrowse link
G Utp4 UTP4 small subunit processome component ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550 		JBrowse link
G Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,590,569...38,691,911
Ensembl chr19:38,590,569...38,691,909 		JBrowse link
G Vps4a vacuolar protein sorting 4 homolog A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,934,999...34,948,267
Ensembl chr19:34,934,961...34,948,887 		JBrowse link
G Wwp2 WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:35,346,826...35,471,251
Ensembl chr19:35,346,814...35,472,699 		JBrowse link
G Zdhhc1 zinc finger, DHHC-type containing 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:33,350,533...33,375,717
Ensembl chr19:33,350,533...33,375,616 		JBrowse link
G Zfp612 zinc finger protein 612 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:38,053,953...38,071,196
Ensembl chr19:38,053,967...38,067,455 		JBrowse link
G Zfp821 zinc finger protein 821 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:37,679,937...37,698,831
Ensembl chr19:37,680,628...37,698,831 		JBrowse link
G Zfp90 zinc finger protein 90 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr19:34,321,980...34,333,195
Ensembl chr19:34,321,940...34,333,194 		JBrowse link
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant OMIM
ClinVar		 PMID:1680286 PMID:7577595 PMID:7695699 PMID:7861014 PMID:8170945 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO p.S17F(mouse)
ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
DNA:mutation:cds:p.D50N (human)
p.G45E(mouse)
DNA:mutation:cds:p.N14K(human)
DNA:mutations:cds:p.G11E,p.D50N(human)		 ClinVar
OMIM
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105