MCID: CFF001
MIFTS: 52

Coffin-Siris Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases, Mental diseases

Aliases & Classifications for Coffin-Siris Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 65UMLS, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Coffin-Siris Syndrome:

Name: Coffin-Siris Syndrome 49 10 11 21 45 22 23 12 51 36 24 65
Fifth Digit Syndrome 10 21 45 22 23
Dwarfism-Onychodysplasia 10 23
Intellectual Disability with Absent Fifth Fingernail and Terminal Phalanx 45
 
Mental Retardation with Hypoplastic Fifth Fingernails and Toenails 23
Short Stature-Onychodysplasia. 10
Short Stature-Onychodysplasia 23
Css 51

Characteristics:

Orphanet epidemiological data:

51
coffin-siris syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,late childhood

HPO:

61
coffin-siris syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 135900
Disease Ontology10 DOID:1925
MeSH36 C536436
NCIt42 C35321
SNOMED-CT59 10007009
Orphanet51 1465
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 C536436
UMLS via Orphanet66 C0265338
UMLS65 C0265338

Summaries for Coffin-Siris Syndrome

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OMIM:49 Coffin-Siris syndrome has been described as mental retardation associated with coarse facial features, hypertrichosis,... (135900) more...

MalaCards based summary: Coffin-Siris Syndrome, also known as fifth digit syndrome, is related to short stature, onychodysplasia, facial dysmorphism, and hypotrichosis and arid1a-related coffin-siris syndrome, and has symptoms including abnormality of the teeth, thick lower lip vermilion and microcephaly. An important gene associated with Coffin-Siris Syndrome is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways are Prostate Cancer and TNF-alpha/NF-kB Signaling Pathway. Affiliated tissues include kidney, bone and cerebellum.

Disease Ontology:10 A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability.

Genetics Home Reference:23 Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features.

NIH Rare Diseases:45 Coffin-siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped “pinky” toenails or fingernails, and distinct facial features. it can be caused by a change (mutation) in any of several genes including the arid1a, arid1b, smarca4, smarcb1, or smarce1 genes. coffin-siris syndrome follows an autosomal dominant pattern of inheritance, however it usually occurs for the first time in a family due to a new mutation. occupational, physical, and/or speech therapy can help affected individuals reach their full potential. last updated: 1/5/2016

GeneReviews summary for NBK131811

Related Diseases for Coffin-Siris Syndrome

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Diseases in the Coffin-Siris Syndrome family:

Arid1a-Related Coffin-Siris Syndrome Arid1b-Related Coffin-Siris Syndrome
Smarca4-Related Coffin-Siris Syndrome Smarcb1-Related Coffin-Siris Syndrome
Smarce1-Related Coffin-Siris Syndrome

Diseases related to Coffin-Siris Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1short stature, onychodysplasia, facial dysmorphism, and hypotrichosis12.7
2arid1a-related coffin-siris syndrome12.2
3arid1b-related coffin-siris syndrome12.2
4smarca4-related coffin-siris syndrome12.2
5smarcb1-related coffin-siris syndrome12.2
6smarce1-related coffin-siris syndrome12.2
7mental retardation, autosomal dominant 1411.4
8mental retardation, autosomal dominant 1211.4
9mental retardation, autosomal dominant 1611.4
10mental retardation, autosomal dominant 1511.4
11autoimmune lymphoproliferative syndrome11.2
12eosinophilic granulomatosis with polyangiitis11.2
13bod syndrome10.9
14nphp3-related meckel-like syndrome10.5SMARCB1, SMARCE1
15beckwith-wiedemann syndrome due to imprinting defect of 11p1510.5SMARCA4, SMARCB1
16osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome10.5ARID1B, SMARCA2
17tumor predisposition syndrome10.4SMARCA4, SMARCB1
18tooth erosion10.4SMARCA2, SMARCA4
19obesity10.4
20renal artery atheroma10.4SMARCA2, SMARCA4
21rectum kaposi's sarcoma10.4SMARCA4, SMARCB1
22takayasu's arteritis10.4SMARCA2, SMARCA4
23urethral urothelial papilloma10.2SMARCA2, SMARCA4
24staphyloenterotoxemia10.2PHF6, SMARCB1
25brain sarcoma10.2SMARCA4, SMARCB1
26neuroblastoma10.2
27medulloblastoma10.2
28biotinidase deficiency10.2
29coffin-lowry syndrome10.2
30door syndrome10.2
31hyperinsulinism10.2
32pituitary hypoplasia10.2
33choanal atresia10.2
34hypoglycemia10.2
35growth hormone deficiency10.2
36ossifying fibromyxoid tumor10.2ARID1A, BANF1
37hypotrichosis10.1
38cystic echinococcosis9.9SMARCA2, SMARCA4
39pituitary adenoma, growth hormone-secreting 28.7ARID1A, ARID1B, BANF1, PHF6, SMARCA2, SMARCA4
40alopecia, neurologic defects, and endocrinopathy syndrome5.6ADAMTS6, ARID1A, ARID1B, BANF1, CMAS, FAM3C

Graphical network of the top 20 diseases related to Coffin-Siris Syndrome:



Diseases related to coffin-siris syndrome

Symptoms for Coffin-Siris Syndrome

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Symptoms by clinical synopsis from OMIM:

135900

Clinical features from OMIM:

135900

Symptoms:

 51 (show all 54)
  • microcephaly
  • coarse face
  • thick/bushy eyebrows
  • long/thick/curved lashes/trichomegaly/polytrichia
  • broad nose/nasal bridge
  • thick lips
  • anomalies of teeth and dentition
  • terminal/third phalangeal bone of fingers hypoplasia
  • hirsutism/hypertrichosis/increased body hair
  • slow growth of the hair
  • absent/small fingernails/anonychia of hands
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • short stature/dwarfism/nanism
  • strabismus/squint
  • nystagmus
  • flattened nose
  • depressed nasal bridge
  • macrostomia/big mouth
  • hearing loss/hypoacusia/deafness
  • scoliosis
  • patella absent/abnormal (excluding luxation)
  • repeat respiratory infections
  • congenital cardiac anomaly/malformation/cardiopathy
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • dandy-walker anomaly
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hyperextensible joints/articular hyperlaxity
  • elbow dislocation
  • intrauterine growth retardation
  • cataract/lens opacification
  • ptosis
  • epicanthic folds
  • defect/anomaly of lacrimal system
  • short philtrum
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • clavicle absent/abnormal
  • anomalies of spine, vertebrae and pelvis
  • kyphosis
  • spina bifida occulta
  • intervertebral disk anomaly
  • herniae
  • simian crease/transverse/unique palmar crease
  • cutis marmorata/marbled skin/livedo
  • absent/small toenails/anonychia of feet
  • diaphragmatic hernia/defect/agenesis
  • agenesis/hypoplasia/aplasia of kidneys
  • ectopic/horseshoe/fused kidneys
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • dilated cerebral ventricles without hydrocephaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana

HPO human phenotypes related to Coffin-Siris Syndrome:

(show all 118)
id Description Frequency HPO Source Accession
1 abnormality of the teeth hallmark (90%) HP:0000164
2 thick lower lip vermilion hallmark (90%) HP:0000179
3 microcephaly hallmark (90%) HP:0000252
4 coarse facial features hallmark (90%) HP:0000280
5 abnormality of the eyelashes hallmark (90%) HP:0000499
6 thick eyebrow hallmark (90%) HP:0000574
7 hypertrichosis hallmark (90%) HP:0000998
8 muscular hypotonia hallmark (90%) HP:0001252
9 anonychia hallmark (90%) HP:0001798
10 slow-growing hair hallmark (90%) HP:0002217
11 short stature hallmark (90%) HP:0004322
12 feeding difficulties in infancy hallmark (90%) HP:0008872
13 short distal phalanx of finger hallmark (90%) HP:0009882
14 cognitive impairment hallmark (90%) HP:0100543
15 cryptorchidism typical (50%) HP:0000028
16 wide mouth typical (50%) HP:0000154
17 hearing impairment typical (50%) HP:0000365
18 depressed nasal ridge typical (50%) HP:0000457
19 strabismus typical (50%) HP:0000486
20 nystagmus typical (50%) HP:0000639
21 seizures typical (50%) HP:0001250
22 dandy-walker malformation typical (50%) HP:0001305
23 joint hypermobility typical (50%) HP:0001382
24 intrauterine growth retardation typical (50%) HP:0001511
25 recurrent respiratory infections typical (50%) HP:0002205
26 scoliosis typical (50%) HP:0002650
27 elbow dislocation typical (50%) HP:0003042
28 depressed nasal bridge typical (50%) HP:0005280
29 patellar aplasia typical (50%) HP:0006443
30 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
31 cleft palate occasional (7.5%) HP:0000175
32 epicanthus occasional (7.5%) HP:0000286
33 short philtrum occasional (7.5%) HP:0000322
34 ptosis occasional (7.5%) HP:0000508
35 cataract occasional (7.5%) HP:0000518
36 lacrimation abnormality occasional (7.5%) HP:0000632
37 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
38 abnormality of the clavicle occasional (7.5%) HP:0000889
39 single transverse palmar crease occasional (7.5%) HP:0000954
40 cutis marmorata occasional (7.5%) HP:0000965
41 kyphosis occasional (7.5%) HP:0002808
42 abnormality of the hip bone occasional (7.5%) HP:0003272
43 spina bifida occulta occasional (7.5%) HP:0003298
44 abnormality of the intervertebral disk occasional (7.5%) HP:0005108
45 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
46 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
47 aplastic/hypoplastic toenail occasional (7.5%) HP:0010624
48 abnormal localization of kidney occasional (7.5%) HP:0100542
49 short distal phalanx of the 5th toe HP:0100391
50 lumbosacral hirsutism HP:0009747
51 postnatal growth retardation HP:0008897
52 feeding difficulties in infancy HP:0008872
53 hypoplastic fifth fingernail HP:0008398
54 severe expressive language delay HP:0006863
55 aplasia/hypoplasia of the patella HP:0006498
56 depressed nasal bridge HP:0005280
57 short stature HP:0004322
58 short distal phalanx of the 5th finger HP:0004227
59 spina bifida occulta HP:0003298
60 dislocated radial head HP:0003083
61 kyphosis HP:0002808
62 delayed skeletal maturation HP:0002750
63 coxa valga HP:0002673
64 scoliosis HP:0002650
65 gastric ulcer HP:0002592
66 duodenal ulcer HP:0002588
67 intussusception HP:0002576
68 intestinal malrotation HP:0002566
69 facial hypertrichosis HP:0002219
70 sparse scalp hair HP:0002209
71 recurrent respiratory infections HP:0002205
72 hypoplasia of the corpus callosum HP:0002079
73 patent ductus arteriosus HP:0001643
74 tetralogy of fallot HP:0001636
75 atria septal defect HP:0001631
76 ventricular septal defect HP:0001629
77 umbilical hernia HP:0001537
78 intrauterine growth retardation HP:0001511
79 joint laxity HP:0001388
80 partial agenesis of the corpus callosum HP:0001338
81 dandy-walker malformation HP:0001305
82 muscular hypotonia HP:0001252
83 seizures HP:0001250
84 intellectual disability HP:0001249
85 hemangioma HP:0001028
86 cutis marmorata HP:0000965
87 sacral dimple HP:0000960
88 single transverse palmar crease HP:0000954
89 short sternum HP:0000879
90 congenital diaphragmatic hernia HP:0000776
91 autistic behavior HP:0000729
92 aggressive behavior HP:0000718
93 delayed eruption of teeth HP:0000684
94 nystagmus HP:0000639
95 hypotelorism HP:0000601
96 thick eyebrow HP:0000574
97 myopia HP:0000545
98 long eyelashes HP:0000527
99 ptosis HP:0000508
100 strabismus HP:0000486
101 astigmatism HP:0000483
102 broad nasal tip HP:0000455
103 choanal atresia HP:0000453
104 preauricular skin tag HP:0000384
105 hearing impairment HP:0000365
106 coarse facial features HP:0000280
107 microcephaly HP:0000252
108 high palate HP:0000218
109 thick lower lip vermilion HP:0000179
110 cleft palate HP:0000175
111 wide mouth HP:0000154
112 aplasia of the uterus HP:0000151
113 hydronephrosis HP:0000126
114 renal hypoplasia HP:0000089
115 ectopic kidney HP:0000086
116 hypospadias HP:0000047
117 cryptorchidism HP:0000028
118 inguinal hernia HP:0000023

UMLS symptoms related to Coffin-Siris Syndrome:


joint laxity, seizures

Drugs & Therapeutics for Coffin-Siris Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Coffin-Siris Syndrome


Cochrane evidence based reviews: coffin-siris syndrome

Genetic Tests for Coffin-Siris Syndrome

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Genetic tests related to Coffin-Siris Syndrome:

id Genetic test Affiliating Genes
1 Coffin-Siris Syndrome22 SMARCE1

Anatomical Context for Coffin-Siris Syndrome

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MalaCards organs/tissues related to Coffin-Siris Syndrome:

33
Kidney, Bone, Cerebellum, Skin, Testes, Uterus, T cells

Animal Models for Coffin-Siris Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Coffin-Siris Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Coffin-Siris Syndrome

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Articles related to Coffin-Siris Syndrome:

(show top 50)    (show all 64)
idTitleAuthorsYear
1
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. (26543203)
2015
2
Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature. (25298701)
2014
3
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. (25099957)
2014
4
Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation. (24700502)
2014
5
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. (25168959)
2014
6
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. (24569609)
2014
7
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. (25169651)
2014
8
Numerous BAF complex genes are mutated in Coffin-Siris syndrome. (25081545)
2014
9
De novo SOX11 mutations cause Coffin-Siris syndrome. (24886874)
2014
10
Coffin-Siris syndrome is a SWI/SNF complex disorder. (23815551)
2013
11
Correction: Duplication of C7orf58, WNT16 and FAM3C in an Obese Female with a t(7;22)(q32.1;q11.2) Chromosomal Translocation and Clinical Features Resembling Coffin-Siris Syndrome. (24039678)
2013
12
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. (22426309)
2012
13
Mutations affecting components of the SWI/SNF complex cause Coffin- Siris syndrome. (22426308)
2012
14
Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation. (21452752)
2011
15
Coffin-Siris syndrome with Mayer-Rokitansky-KA1ster-Hauser syndrome: a case report. (21059198)
2010
16
Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum. (20624500)
2010
17
Neuroblastoma in a patient with Coffin-Siris syndrome. (19842870)
2009
18
Is this the Coffin-Siris syndrome or the BOD syndrome? (19215055)
2009
19
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. (18203175)
2008
20
Upper gastrointestinal malformations in Coffin-Siris syndrome. (17523151)
2007
21
Genetic drift. Letter from Baghdad: Coffin-Siris syndrome in a girl with absent kidney. (16830329)
2006
22
Autosomal dominant syndrome resembling Coffin-Siris syndrome. (16691594)
2006
23
Anesthetic management in a child with Coffin-Siris syndrome. (15283836)
2004
24
Dandy-Walker variant in Coffin-Siris syndrome. (11298377)
2001
25
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. (11170086)
2001
26
Difficult airway in a patient with Coffin-Siris syndrome. (11159267)
2001
27
Candidate region for Coffin-Siris syndrome at 7q32--&gt;34. (10925390)
2000
28
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. (10649791)
2000
29
Diaphragmatic hernia in the Coffin-Siris syndrome. (9555587)
1998
30
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. (9286450)
1997
31
Variant of Coffin-Siris syndrome or previously undescribed syndrome? (8870924)
1996
32
Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis. (8942018)
1996
33
The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children. (8591667)
1995
34
Hypoglycemia in Coffin-Siris syndrome. (8849011)
1995
35
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. (1724113)
1991
36
Coffin-Siris syndrome. (1865473)
1991
37
The Coffin-Siris syndrome. (2352263)
1990
38
Medulloblastoma in association with the Coffin-Siris syndrome. (2456854)
1988
39
12;14 translocation in Coffin Siris syndrome. (2824376)
1987
40
Distinctive gastrointestinal anomaly associated with Coffin-Siris syndrome. (3537244)
1986
41
The Coffin-Siris syndrome in two siblings. (3725452)
1986
42
Ocular anomalies in Coffin-Siris syndrome. (4069596)
1985
43
The Coffin-Siris syndrome: report of a family and further delineation. (6499251)
1984
44
Lapsus--caveat emptor: Coffin-Lowry syndrome vs Coffin-Siris syndrome--an example of confusion compounded. (7294058)
1981
45
The Coffin-Siris syndrome. A report of four cases and review of the literature. (7019832)
1981
46
The Coffin-Siris syndrome: a case report. (7192700)
1980
47
Coffin-Siris syndrome. (717300)
1978
48
The Coffin-Siris syndrome. (665590)
1978
49
The Coffin-Siris syndrome: five new cases including two siblings. (665592)
1978
50
Partial trisomy 9 with resemblance to Coffin-Siris syndrome. (933124)
1976

Variations for Coffin-Siris Syndrome

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Clinvar genetic disease variations for Coffin-Siris Syndrome:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1SMARCE1NM_003079.4(SMARCE1): c.218A> G (p.Tyr73Cys)single nucleotide variantLikely pathogenicrs387906857GRCh37Chr 17, 38793763: 38793763
2ARID1BNM_020732.3(ARID1B): c.3919C> T (p.Gln1307Ter)single nucleotide variantPathogenicrs387907140GRCh37Chr 6, 157517355: 157517355
3ARID1BARID1B, 11-BP DEL, NT6463deletionPathogenic
4ARID1BNM_020732.3(ARID1B): c.3304C> T (p.Arg1102Ter)single nucleotide variantPathogenicrs387907141GRCh37Chr 6, 157502271: 157502271
5ARID1BARID1B, 2-BP DEL, 3323AAdeletionPathogenic
6ARID1BARID1B, TYR1346TERsingle nucleotide variantPathogenic
7ARID1BNM_020732.3(ARID1B): c.1903C> T (p.Gln635Ter)single nucleotide variantPathogenicrs387907142GRCh37Chr 6, 157222636: 157222636
8ARID1BARID1B, 1-BP DEL, 5632GdeletionPathogenic
9ARID1BNM_020732.3(ARID1B): c.5329A> T (p.Lys1777Ter)single nucleotide variantPathogenicrs387907143GRCh37Chr 6, 157527604: 157527604
10ARID1BNM_020732.3(ARID1B): c.3223C> T (p.Arg1075Ter)single nucleotide variantPathogenicrs387907144GRCh37Chr 6, 157502190: 157502190
11ARID1BARID1B, 10-BP DEL, NT4619deletionPathogenic

Expression for genes affiliated with Coffin-Siris Syndrome

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Search GEO for disease gene expression data for Coffin-Siris Syndrome.

Pathways for genes affiliated with Coffin-Siris Syndrome

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GO Terms for genes affiliated with Coffin-Siris Syndrome

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Cellular components related to Coffin-Siris Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:00432349.7SMARCA4, SMARCB1, SMARCE1

Biological processes related to Coffin-Siris Syndrome according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of glucose mediated signaling pathwayGO:190266110.5SMARCA4, SMARCB1
2positive regulation by host of viral transcriptionGO:004392310.5SMARCA4, SMARCB1
3chromatin-mediated maintenance of transcriptionGO:004809610.4ARID1A, ARID1B
4positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoterGO:190183810.3SMARCA4, SMARCB1
5chromatin remodelingGO:000633810.2ARID1A, SMARCB1
6ATP-dependent chromatin remodelingGO:00430449.5ARID1A, SMARCA4, SMARCB1, SMARCC2
7positive regulation of transcription, DNA-templatedGO:00458938.6ARID1A, SMARCA2, SMARCA4, SMARCC2, SOX11

Molecular functions related to Coffin-Siris Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleosomal DNA bindingGO:003149210.1SMARCB1, SMARCE1
2RNA polymerase II distal enhancer sequence-specific DNA bindingGO:000098010.1SMARCA4, SMARCE1
3hydrolase activity, acting on acid anhydridesGO:00168179.8SMARCA2, SMARCA4
4p53 bindingGO:00020399.6SMARCA4, SMARCB1

Sources for Coffin-Siris Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet