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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;   RDO:0004367
 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 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636 		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 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874 		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 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706 		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:18414213, PMID:24728327, PMID:25741868, PMID:26353884, PMID:27701467, PMID:28492532 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468 		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 NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931 		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 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636 		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: Coffin-Siris syndrome 1
ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features		 ClinVar
OMIM		 PMID:6499251, PMID:11170086, PMID:15057123, PMID:16691594, PMID:18414213, PMID:20086098, PMID:21801163, PMID:22405089, PMID:22426308, PMID:22426309, PMID:23906836, PMID:23929686, PMID:24267886, PMID:24569609, PMID:24674232, PMID:25169814, PMID:25326635, PMID:25363768, PMID:25674384, PMID:25741868, PMID:25741869, PMID:26350204, PMID:26376624, PMID:26395437, PMID:27389779, PMID:27570168, PMID:28323383, PMID:28492532, PMID:28708303, PMID:28867767, PMID:31132234 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874 		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 1:221,253,764...221,269,043
Ensembl chr 1:221,253,747...221,269,042 		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 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706 		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 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468 		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 OMIM
ClinVar		 PMID:30661772 NCBI chr17:37,615,022...37,619,728 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 7:141,355,623...141,366,725
Ensembl chr 7:141,355,994...141,366,732 		JBrowse link
Coffin-Siris syndrome 2 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: Mental retardation, autosomal dominant 14
ClinVar Annotator: match by OMIM:614607		 OMIM
ClinVar		 PMID:18414213, PMID:22426308, PMID:23010866, PMID:23556151, PMID:23637025, PMID:23906836, PMID:23929686, PMID:25168959, PMID:25169878, PMID:25326635, PMID:25741868, PMID:28262751, PMID:30123105 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636 		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, PMID:23815551, PMID:23906836, PMID:23929686, PMID:24993163, PMID:25168959, PMID:25169651, PMID:25326635, PMID:25462860, PMID:25741868, PMID:25981829, PMID:26364901, PMID:26987750, PMID:28177878, PMID:28492532, PMID:29230670 NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931 		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:20137775, PMID:22426308, PMID:23637025, PMID:23775540, PMID:23815551, PMID:23929686, PMID:24658001, PMID:25326635, PMID:25741868, PMID:28492532, PMID:28608987 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468 		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 NCBI chr10:87,116,827...87,138,890
Ensembl chr10:87,116,827...87,137,965 		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
OMIM		 PMID:25741868, PMID:26238514, PMID:28124119, PMID:28884947 NCBI chr 7:137,680,564...137,798,329
Ensembl chr 7:137,680,530...137,795,655 		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
OMIM		 PMID:25741868, PMID:29429572 NCBI chr 1:221,253,764...221,269,043
Ensembl chr 1:221,253,747...221,269,042 		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 OMIM
ClinVar		 PMID:25590979, PMID:25741868, PMID:27620904, PMID:30580808 NCBI chr 7:2,875,898...2,905,463
Ensembl chr 7:2,875,909...2,904,453 		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 6:46,629,967...46,631,988
Ensembl chr 6:46,629,974...46,631,983 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Coffin-Siris syndrome 12
        Coffin-Siris Syndrome 10 1
        Coffin-Siris Syndrome 11 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 1
        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 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    non-syndromic intellectual disability 261
                      autosomal dominant non-syndromic intellectual disability 169
                        Coffin-Siris syndrome 12
                          Coffin-Siris Syndrome 10 1
                          Coffin-Siris Syndrome 11 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 1
                          Coffin-Siris syndrome 3 1
                          Coffin-Siris syndrome 4 1
                          Coffin-Siris syndrome 6 1
                          Coffin-Siris syndrome 9 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.