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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
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Accession:DOID:1925 term browser browse the term
Definition:An autosomal dominant non-syndromic intellectual disability that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. (DO)
Synonyms:exact_synonym: CSS;   Coffin Siris/intellectual disability;   dwarfism-onychodysplasia;   fifth digit syndrome;   short stature-onychodysplasia.
 alt_id: MESH:C538391
 xref: GARD:6124;   NCI:C35321;   OMIM:PS135900;   ORDO:1465
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Coffin-Siris syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO
ISS
ClinVar Annotator: match by term: Coffin-Siris syndrome
OMIM:135900
ClinVar
MouseDO
PMID:25741868 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability
ClinVar Annotator: match by term: Coffin-Siris syndrome
DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:24674232 RGD:11526783 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G Kdm8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 1:180,013,969...180,028,829
Ensembl chr 1:180,020,656...180,028,841
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability ClinVar PMID:18414213 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:24728327 PMID:25741868 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:28492532 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
JBrowse link
Coffin-Siris syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22426308 PMID:25741868 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
ClinVar Annotator: match by term: Coffin-Siris syndrome 1
ClinVar
OMIM
PMID:10361086 PMID:15057123 PMID:18414213 PMID:22405089 PMID:22426308 More... NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
Coffin-Siris Syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 10
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 10
OMIM
ClinVar
PMID:25741868 PMID:30661772 NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
JBrowse link
Coffin-Siris Syndrome 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 11 OMIM
ClinVar
PMID:30879640 NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323
JBrowse link
Coffin-Siris Syndrome 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicra BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 12 ClinVar
OMIM
PMID:25741868 PMID:33232675 NCBI chr 1:76,661,897...76,736,146
Ensembl chr 1:76,661,897...76,737,157
JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14
ClinVar Annotator: match by OMIM:614607
OMIM
ClinVar
PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 15
ClinVar Annotator: match by OMIM:614608
OMIM
ClinVar
PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
JBrowse link
Coffin-Siris syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 16
ClinVar Annotator: match by OMIM:614609
OMIM
ClinVar
PMID:10601012 PMID:22426308 PMID:23637025 PMID:24728327 PMID:25326635 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
Coffin-Siris Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO ClinVar Annotator: match by term: Coffin-siris syndrome 5
ClinVar Annotator: match by term: Coffin-Siris syndrome 5
ClinVar
OMIM
PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
JBrowse link
Coffin-Siris syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 6
ClinVar Annotator: match by term: Coffin-Siris syndrome 6
ClinVar
OMIM
PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More... NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
JBrowse link
Coffin-Siris Syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 7
ClinVar Annotator: match by term: Coffin-Siris syndrome 7
ClinVar
OMIM
PMID:25741868 PMID:29429572 PMID:31207137 NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
JBrowse link
Coffin-Siris Syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 8
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 8
OMIM
ClinVar
PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:30580808 NCBI chr 7:881,844...910,090
Ensembl chr 7:881,421...909,978
JBrowse link
Coffin-Siris syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 27 ClinVar
OMIM
PMID:24886874 PMID:25741868 PMID:32860008 NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Coffin-Siris syndrome 16
        Coffin-Siris Syndrome 10 1
        Coffin-Siris Syndrome 11 1
        Coffin-Siris Syndrome 12 1
        Coffin-Siris Syndrome 5 1
        Coffin-Siris Syndrome 7 1
        Coffin-Siris Syndrome 8 1
        Coffin-Siris syndrome 1 5
        Coffin-Siris syndrome 2 3
        Coffin-Siris syndrome 3 1
        Coffin-Siris syndrome 4 1
        Coffin-Siris syndrome 6 1
        Coffin-Siris syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            disease of mental health 7043
              developmental disorder of mental health 4378
                specific developmental disorder 3635
                  intellectual disability 3446
                    non-syndromic intellectual disability 420
                      autosomal dominant non-syndromic intellectual disability 318
                        Coffin-Siris syndrome 16
                          Coffin-Siris Syndrome 10 1
                          Coffin-Siris Syndrome 11 1
                          Coffin-Siris Syndrome 12 1
                          Coffin-Siris Syndrome 5 1
                          Coffin-Siris Syndrome 7 1
                          Coffin-Siris Syndrome 8 1
                          Coffin-Siris syndrome 1 5
                          Coffin-Siris syndrome 2 3
                          Coffin-Siris syndrome 3 1
                          Coffin-Siris syndrome 4 1
                          Coffin-Siris syndrome 6 1
                          Coffin-Siris syndrome 9 1
paths to the root