.
Coffin-Siris syndrome 2 - Ontology Report - Rat Genome Database

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

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Coffin-Siris syndrome 2
go back to main search page
Accession:DOID:0070044 term browser browse the term
Definition:A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11. (DO)
Synonyms:exact_synonym: ARID1A-RELATED BAFOPATHY;   ARID1A-RELATED CONDITION;   CSS2;   MRD14;   autosomal dominant mental retardation 14
 primary_id: MIM:614607

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
Coffin-Siris syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chrNW_004624794:12,042,627...12,113,762
Ensembl chrNW_004624794:12,042,533...12,113,886 		JBrowse link
G G ACTN4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 6:33,290,639...33,373,059
Ensembl chr 6:33,290,622...33,374,693 		JBrowse link
G P ACTN4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 6:47,493,834...47,565,999
Ensembl chr 6:47,493,919...47,565,998 		JBrowse link
G S Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chrNW_004936801:1,333,077...1,402,885
Ensembl chrNW_004936801:1,333,077...1,404,054 		JBrowse link
G D ACTN4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 1:114,354,993...114,427,997
Ensembl chr 1:114,309,693...114,427,991 		JBrowse link
G B ACTN4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr19:35,742,758...35,825,321
Ensembl chr19:44,313,569...44,395,508 		JBrowse link
G C Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chrNW_004955468:770,573...841,859
Ensembl chrNW_004955468:770,573...842,209 		JBrowse link
G R Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 1:93,310,294...93,379,369
Ensembl chr 1:84,182,788...84,251,847 		JBrowse link
G M Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 7:28,592,673...28,661,799
Ensembl chr 7:28,592,673...28,661,765 		JBrowse link
G H ACTN4 actinin alpha 4 IAGP ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589 		JBrowse link
G N Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634 		JBrowse link
G G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672 		JBrowse link
G P ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349 		JBrowse link
G S Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G D ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G B ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		JBrowse link
G C Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chrNW_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759 		JBrowse link
G R Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G M Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G H ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2
ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2
ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 		ClinVar
OMIM		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G N Hr HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chrNW_004624758:17,699,357...17,719,188
Ensembl chrNW_004624758:17,699,400...17,715,482 		JBrowse link
G G HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chr 8:20,183,797...20,207,510
Ensembl chr 8:20,183,677...20,198,700 		JBrowse link
G P HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chr14:6,386,900...6,404,968
Ensembl chr14:6,386,903...6,407,031 		JBrowse link
G S Hr HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chrNW_004936555:5,936,431...5,954,852
Ensembl chrNW_004936555:5,936,220...5,954,974 		JBrowse link
G D HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chr25:35,120,566...35,136,560
Ensembl chr25:35,119,784...35,135,545 		JBrowse link
G B HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chr 8:21,359,348...21,378,315
Ensembl chr 8:18,298,709...18,316,151 		JBrowse link
G C Hr HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chrNW_004955403:45,605,870...45,624,386
Ensembl chrNW_004955403:45,605,510...45,624,402 		JBrowse link
G R Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chr15:52,036,540...52,056,019
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
G M Hr lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chr14:70,789,644...70,810,988
Ensembl chr14:70,789,652...70,810,988 		JBrowse link
G H HR HR lysine demethylase and nuclear receptor corepressor IAGP ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chr 8:22,114,419...22,131,052
Ensembl chr 8:22,114,419...22,133,384 		JBrowse link
G H LOC126805670 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:27098665-27099864 IAGP ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2
ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 		ClinVar PMID:23929686 PMID:25741868 PMID:28492532 NCBI chr 1:26,772,174...26,773,373 JBrowse link
G H LOC129929837 ATAC-STARR-seq lymphoblastoid silent region 489 IAGP ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2
ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 		ClinVar PMID:22426308 PMID:23929686 PMID:25741868 PMID:28492532 NCBI chr 1:26,697,029...26,697,628 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      Coffin-Siris syndrome 219
        Coffin-Siris syndrome 2 32
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            disease of mental health 111500
              developmental disorder of mental health 63917
                specific developmental disorder 50074
                  intellectual disability 45595
                    autosomal dominant intellectual developmental disorder 4846
                      Coffin-Siris syndrome 219
                        Coffin-Siris syndrome 2 32
paths to the root