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
Accession: DOID:1925
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 .
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Arid1a
AT-rich interaction domain 1A
ISS ISO
OMIM:135900 ClinVar Annotator: match by term: Coffin-Siris syndrome
MouseDO ClinVar
PMID:25741868
NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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Arid1b
AT-rich interaction domain 1B
ISO
DNA:frameshift,nonsense mutations, haploinsufficiency:cds: ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome
ClinVar RGD
PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 PMID:24674232
RGD:11526783
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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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
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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
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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 Annotator: match by term: Fifth digit syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21280140 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:27701467 PMID:28166811 PMID:28492532 More...
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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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
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Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
ClinVar
PMID:22426308 PMID:25741868
NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
OMIM ClinVar
PMID:10361086 PMID:15057123 PMID:18414213 PMID:22405089 PMID:22426308 PMID:22426309 PMID:23815551 PMID:23906836 PMID:23929686 PMID:24674232 PMID:25326635 PMID:25473036 PMID:25674384 PMID:25741868 PMID:25741869 PMID:26350204 PMID:26822237 PMID:27474218 PMID:27570168 PMID:27824329 PMID:28323383 PMID:28492532 PMID:28708303 PMID:29286531 PMID:30504930 PMID:31132234 PMID:32860008 PMID:33098347 More...
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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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
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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
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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 Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21280140 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:27701467 PMID:28166811 PMID:28492532 More...
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Sox4
SRY-box transcription factor 4
ISO
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
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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:25741868 PMID:30879640
NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323
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Bicra
BRD4 interacting chromatin remodeling complex associated protein
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 12
OMIM ClinVar
PMID:25741868 PMID:25741870 PMID:33232675
NCBI chr 1:76,661,897...76,736,146
Ensembl chr 1:76,661,897...76,737,157
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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 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533 PMID:28492532 More...
NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
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Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2
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:28492532 PMID:30123105 More...
NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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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
NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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Derl3
derlin 3
ISO
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3
ClinVar
NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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Mmp11
matrix metallopeptidase 11
ISO
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3
ClinVar
NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3
OMIM ClinVar
PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 PMID:23906836 PMID:24993163 PMID:25168959 PMID:25169651 PMID:25326635 PMID:25462860 PMID:25741868 PMID:25981829 PMID:26364901 PMID:26987750 PMID:28177878 PMID:28492532 PMID:29230670 More...
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy
OMIM ClinVar
PMID:9536098 PMID:10601012 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 PMID:23637025 PMID:23929686 PMID:24658001 PMID:24658002 PMID:24728327 PMID:25058500 PMID:25231023 PMID:25275049 PMID:25326635 PMID:25741868 PMID:25918285 PMID:26353884 PMID:26467025 PMID:26580448 PMID:26901136 PMID:27701467 PMID:28166811 PMID:28202063 PMID:28492532 PMID:28873162 PMID:28973083 PMID:30111351 PMID:30973214 PMID:31097095 More...
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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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
OMIM ClinVar
PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532
NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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Arid2
AT-rich interaction domain 2
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 6
OMIM ClinVar
PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 PMID:28884947 More...
NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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Dpf2
double PHD fingers 2
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 7
OMIM ClinVar
PMID:25741868 PMID:29429572 PMID:31207137
NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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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: SMARCC2-related condition
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
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Sox11
SRY-box transcription factor 11
ISO
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 9
OMIM ClinVar
PMID:24886874 PMID:25741868 PMID:32860008
NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
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