CSS1
MCID: CFF008
MIFTS: 64

Coffin-Siris Syndrome 1 (CSS1)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases, Smell/Taste diseases
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Aliases & Classifications for Coffin-Siris Syndrome 1

MalaCards integrated aliases for Coffin-Siris Syndrome 1:

Name: Coffin-Siris Syndrome 1 57 11 73 28 5 14
Coffin-Siris Syndrome 57 11 24 19 42 58 75 73 28 5 43 14 38 71
Fifth Digit Syndrome 57 11 24 19 42 73
Css 57 42 58 73
Mrd12 57 11 73
Css1 57 11 73
Mental Retardation, Autosomal Dominant 12 57 71
Dwarfism-Onychodysplasia 11 42
Hhid 57 73
Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 57
Intellectual Disability with Absent Fifth Fingernail and Terminal Phalanx 19
Mental Retardation with Hypoplastic Fifth Fingernails and Toenails 42
Mental Retardation, Autosomal Dominant, Type 12 38
Autosomal Dominant Mental Retardation 12 11
Short Stature-Onychodysplasia. 11
Short Stature-Onychodysplasia 42
Coffin-Siris Syndrome, Type 1 38

Characteristics:


Inheritance:

Coffin-Siris Syndrome 1: Autosomal dominant 57
Coffin-Siris Syndrome: Autosomal dominant 58

Prevelance:

Coffin-Siris Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Coffin-Siris Syndrome: Neonatal 58

Age Of Death:

Coffin-Siris Syndrome: adolescent,late childhood 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
highly variable phenotype


GeneReviews:

24
Penetrance Penetrance for coffin-siris syndrome appears to be complete....

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0070042 DOID:1925
OMIM® 57 135900
OMIM Phenotypic Series 57 PS156200,PS135900
NCIt 49 C35321
SNOMED-CT 68 10007009
MESH via Orphanet 44 C536436
ICD10 via Orphanet 32 Q87.1
UMLS via Orphanet 72 C0265338
Orphanet 58 ORPHA1465
UMLS 71 C0265338 C3281201

Summaries for Coffin-Siris Syndrome 1

MedlinePlus Genetics: 42 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.Most affected individuals have mild to severe intellectual disability or delayed development of speech and motor skills such as sitting and walking. Another feature of Coffin-Siris syndrome is underdevelopment (hypoplasia) of the tips of the fingers or toes, or hypoplasia or absence of the nails. These abnormalities are most common on the fifth fingers or toes. In addition, most people with Coffin-Siris syndrome have facial features described as coarse. These features typically include a wide nose with a flat nasal bridge, a wide mouth with thick lips, and thick eyebrows and eyelashes. Affected individuals can have excess hair on other parts of the face and body (hirsutism), but scalp hair is often sparse. People with Coffin-Siris syndrome can have a range of facial features, and not all affected individuals have the typical features. In addition, people with this condition may have an abnormally small head (microcephaly).Additionally, some infants and children with Coffin-Siris syndrome have frequent respiratory infections, difficulty feeding, and an inability to gain weight at the expected rate (failure to thrive). Other signs and symptoms that may occur in people with this condition include short stature, low muscle tone (hypotonia), and abnormally loose (lax) joints. Abnormalities of the eyes, brain, heart, and kidneys may also be present.

MalaCards based summary: Coffin-Siris Syndrome 1, also known as coffin-siris syndrome, is related to coffin-siris syndrome 6 and coffin-siris syndrome 4. An important gene associated with Coffin-Siris Syndrome 1 is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways/superpathways are RNA Polymerase I Promoter Opening and Assembly of the pre-replicative complex. Affiliated tissues include bone, heart and brain, and related phenotypes are coarse facial features and thick eyebrow

UniProtKB/Swiss-Prot: 73 A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.

GARD: 19 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 in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, DPF2 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 genetic change. Occupational, physical, and/or speech therapy can help affected individuals reach their full potential.

OMIM®: 57 Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). (135900) (Updated 24-Oct-2022)

Disease Ontology 11 Coffin-siris syndrome 1: A Coffin-Siris syndrome that has material basis in an autosomal dominant mutation of ARID1B on chromosome 6q25.3.

Coffin-siris syndrome: An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.

Orphanet: 58 A rare genetic syndromic intellectual disability characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, coarse facial features, and other variable clinical manifestations.

Wikipedia: 75 Coffin-Siris Syndrome (CSS), first described in 1970 by Dr Coffin and Dr Siris, is a rare genetic... more...

GeneReviews: NBK131811

Related Diseases for Coffin-Siris Syndrome 1

Diseases in the Coffin-Siris Syndrome 1 family:

Coffin-Siris Syndrome 2 Coffin-Siris Syndrome 3
Coffin-Siris Syndrome 4 Coffin-Siris Syndrome 9
Coffin-Siris Syndrome 5 Coffin-Siris Syndrome 6
Coffin-Siris Syndrome 7 Coffin-Siris Syndrome 8
Coffin-Siris Syndrome 10 Coffin-Siris Syndrome 11
Coffin-Siris Syndrome 12

Diseases related to Coffin-Siris Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 251)
# Related Disease Score Top Affiliating Genes
1 coffin-siris syndrome 6 32.2 SMARCE1 ARID2
2 coffin-siris syndrome 4 32.1 SMARCA4 ARID2
3 hypertrichosis 31.9 SOX4 SOX11 SMARCE1 SMARCD1 SMARCC2 SMARCB1
4 corpus callosum, agenesis of 31.6 ARID1B ADNP
5 nicolaides-baraitser syndrome 31.6 SMARCA2 ARID1B
6 clark-baraitser syndrome 31.4 SOX11 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4
7 familial isolated trichomegaly 31.3 TMEM242 SMARCE1 SMARCA2 ARID1B ANKRD11
8 atypical teratoid rhabdoid tumor 31.2 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 BANF1
9 borjeson-forssman-lehmann syndrome 31.2 SMARCE1 SMARCA2 BANF1 ANKRD11
10 ovarian small cell carcinoma 31.0 SMARCB1 SMARCA4 SMARCA2 ARID1A
11 chromosome 16p13.3 deletion syndrome, proximal 30.9 SMARCA4 SMARCA2 ARID1B
12 charge syndrome 30.9 SOX11 SMARCA4 SMARCA2 BANF1
13 interatrial communication 30.9 SMARCA4 ACTL6A
14 medulloblastoma 30.4 SOX4 SOX11 SMARCB1 SMARCA4 ARID1B
15 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 11.8
16 brachymorphism-onychodysplasia-dysphalangism syndrome 11.4
17 autoimmune lymphoproliferative syndrome 11.1
18 churg-strauss syndrome 11.1
19 coffin-siris syndrome 2 10.9
20 coffin-siris syndrome 3 10.9
21 coffin-siris syndrome 9 10.9
22 coffin-siris syndrome 5 10.9
23 coffin-siris syndrome 7 10.9
24 coffin-siris syndrome 8 10.9
25 coffin-siris syndrome 10 10.9
26 coffin-siris syndrome 11 10.9
27 coffin-siris syndrome 12 10.9
28 microcephaly 10.7
29 arid1b-related disorder 10.6
30 spinal canal and spinal cord meningioma 10.5 SMARCE1 SMARCC2 SMARCB1 ARID1A
31 spinal meningioma 10.5 SMARCE1 SMARCC2 SMARCB1 ARID1A
32 small-cell carcinoma of the ovary of hypercalcemic type 10.5 SMARCA4 SMARCA2 ARID1A
33 kidney rhabdoid cancer 10.5 SMARCC2 SMARCB1 SMARCA4
34 sinonasal undifferentiated carcinoma 10.5 SMARCB1 SMARCA4 SMARCA2
35 endometrioid ovary carcinoma 10.5 SMARCA4 ARID1B ARID1A
36 chromosome 6q24-q25 deletion syndrome 10.5 TMEM242 DPF2 ARID1B
37 clear cell meningioma 10.5 SMARCE1 SMARCB1 SMARCA4
38 papillary adenofibroma 10.5 SMARCA4 ARID1B ARID1A
39 smarca4-deficient sarcoma of thorax 10.5 SMARCB1 SMARCA4 SMARCA2 BANF1
40 large cell carcinoma with rhabdoid phenotype 10.5 SMARCB1 SMARCA4 SMARCA2 BANF1
41 juvenile type testicular granulosa cell tumor 10.5 SMARCB1 SMARCA4 SMARCA2
42 testicular granulosa cell tumor 10.5 SMARCB1 SMARCA4 SMARCA2
43 helsmoortel-van der aa syndrome 10.5 SMARCA4 BANF1 ARID1B ADNP
44 paranasal sinus cancer 10.5 SMARCB1 SMARCA4 SMARCA2
45 posterior pituitary gland neoplasm 10.5 SMARCB1 SMARCA4
46 ovarian clear cell carcinoma 10.5 SMARCB1 SMARCA4 SMARCA2 BANF1 ARID2 ARID1B
47 childhood meningioma 10.5 SMARCE1 SMARCB1
48 adenoid cystic carcinoma 10.5 SOX4 SMARCE1 SMARCA2 ARID2 ARID1A
49 nasal cavity cancer 10.5 SMARCB1 SMARCA4 SMARCA2
50 kbg syndrome 10.5 DPF2 ARID1B ANKRD11

Graphical network of the top 20 diseases related to Coffin-Siris Syndrome 1:



Diseases related to Coffin-Siris Syndrome 1

Symptoms & Phenotypes for Coffin-Siris Syndrome 1

Human phenotypes related to Coffin-Siris Syndrome 1:

58 30 (show top 50) (show all 137)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000280
2 thick eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000574
3 thick lower lip vermilion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000179
4 wide mouth 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000154
5 feeding difficulties 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011968
6 hypertrichosis 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000998
7 prominent eyelashes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011231
8 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
9 ptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000508
10 hearing impairment 58 30 Very rare (1%) Frequent (79-30%)
HP:0000365
11 delayed skeletal maturation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002750
12 depressed nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0005280
13 short nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0003196
14 visual impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000505
15 intellectual disability, severe 58 30 Frequent (33%) Frequent (79-30%)
HP:0010864
16 recurrent upper respiratory tract infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002788
17 thick nasal alae 58 30 Frequent (33%) Frequent (79-30%)
HP:0009928
18 strabismus 58 30 Very rare (1%) Frequent (79-30%)
HP:0000486
19 cryptorchidism 58 30 Very rare (1%) Frequent (79-30%)
HP:0000028
20 postnatal growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0008897
21 joint laxity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001388
22 delayed eruption of teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000684
23 thin upper lip vermilion 58 30 Very rare (1%) Frequent (79-30%)
HP:0000219
24 sparse scalp hair 58 30 Very rare (1%) Frequent (79-30%)
HP:0002209
25 intellectual disability, moderate 58 30 Frequent (33%) Frequent (79-30%)
HP:0002342
26 low anterior hairline 58 30 Frequent (33%) Frequent (79-30%)
HP:0000294
27 broad philtrum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000289
28 aspiration pneumonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0011951
29 hirsutism 58 30 Frequent (33%) Frequent (79-30%)
HP:0001007
30 broad nasal tip 58 30 Very rare (1%) Frequent (79-30%)
HP:0000455
31 short 5th finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0009237
32 hypoplastic fifth fingernail 58 30 Frequent (33%) Frequent (79-30%)
HP:0008398
33 hypoplastic fifth toenail 58 30 Frequent (33%) Frequent (79-30%)
HP:0011937
34 clinodactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0030084
35 infantile muscular hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008947
36 wide nasal base 58 30 Frequent (33%) Frequent (79-30%)
HP:0012810
37 seizure 30 Very rare (1%) HP:0001250
38 agenesis of corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001274
39 hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100790
40 absent speech 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001344
41 horseshoe kidney 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000085
42 myopia 58 30 Very rare (1%) Occasional (29-5%)
HP:0000545
43 atrial septal defect 58 30 Very rare (1%) Occasional (29-5%)
HP:0001631
44 tetralogy of fallot 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001636
45 patent ductus arteriosus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001643
46 dandy-walker malformation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001305
47 hypospadias 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000047
48 ventricular septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001629
49 autistic behavior 58 30 Very rare (1%) Occasional (29-5%)
HP:0000729
50 aggressive behavior 58 30 Very rare (1%) Occasional (29-5%)
HP:0000718

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Eyes:
visual impairment
strabismus
long eyelashes
downslanting palpebral fissures
bushy eyebrows

Head And Neck Ears:
low-set ears
posteriorly rotated ears
simple ears

Head And Neck Face:
short philtrum
facial hypertrichosis
coarse facies
small chin

Skeletal Hands:
single transverse palmar crease
prominent interphalangeal joints
hypoplastic to absent terminal phalanges (especially fifth finger)
prominent distal phalanges
prominent finger pads

Neurologic Central Nervous System:
severe expressive language delay
mental retardation
seizures (in some patients)
delayed psychomotor development
diminishing use of speech
more
Abdomen Gastrointestinal:
feeding problems

Head And Neck Teeth:
delayed dentition

Skeletal Feet:
hypoplastic to absent terminal phalanges (especially fifth toe)

Neurologic Behavioral Psychiatric Manifestations:
obsessive compulsive disorder (in some patients)
stubborness (in some patients)
dislikes presence of others (in some patients)

Head And Neck Mouth:
thick lower lip vermilion
thin upper lip vermilion
large mouth
lower lip droop

Skin Nails Hair Hair:
sparse scalp hair
long eyelashes
lumbosacral hirsutism
bushy eyebrows
hypertrichosis (diminishes with age in some patients)

Voice:
hoarse voice
high-pitched voice

Head And Neck Nose:
broad nasal tip

Skin Nails Hair Nails:
hypoplastic nails
aplastic nails (absent fifth finger nail in some patients)

Growth Height:
short stature (in some patients)

Respiratory:
frequent upper and lower respiratory tract infections (early life)

Skin Nails Hair Skin:
hyperkeratotic plaques (on lower limbs and back in some patients)

Clinical features from OMIM®:

135900 (Updated 24-Oct-2022)

GenomeRNAi Phenotypes related to Coffin-Siris Syndrome 1 according to GeneCards Suite gene sharing:

25 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-109 10.21 SMARCE1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.21 MED13L
3 Increased shRNA abundance (Z-score > 2) GR00366-A-155 10.21 DPF2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.21 ARID1A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-172 10.21 DPF2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.21 MED13L SMARCB1 SMARCE1 ARID1A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.21 SMARCE1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-181 10.21 DPF2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.21 ARID1A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.21 DPF2 ARID1A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.21 SMARCB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.21 DPF2 ARID1A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.21 SMARCE1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-35 10.21 SMARCE1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.21 ARID1A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-71 10.21 MED13L
17 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.21 ARID1A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-75 10.21 SMARCB1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-84 10.21 SMARCE1
20 Increased Nanog expression GR00371-A-1 9.84 ACTL6A ARID1A DPF2 SMARCE1 BANF1 SMARCA4
21 Increased Nanog expression GR00371-A-2 9.84 ARID2 DPF2 SMARCE1 SOX11
22 Increased Nanog expression GR00371-A-3 9.84 ACTL6A ARID1A ARID2 DPF2
23 Increased Nanog expression GR00371-A-4 9.84 SOX11
24 Increased Nanog expression GR00371-A-5 9.84 ARID1A BANF1
25 Decreased Aire reporter expression GR00304-A 9.46 ADNP BANF1 MED13L SMARCC2

MGI Mouse Phenotypes related to Coffin-Siris Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.91 ADNP ANKRD11 ARID1A DPF2 SMARCA4 SMARCB1
2 digestive/alimentary MP:0005381 9.7 ANKRD11 SMARCA2 SMARCA4 SMARCB1 SMARCD1 SOX11
3 cardiovascular system MP:0005385 9.7 ANKRD11 ARID1A ARID1B ARID2 DPF2 SMARCA4
4 mortality/aging MP:0010768 9.5 ACTL6A ADNP ANKRD11 ARID1A ARID1B ARID2

Drugs & Therapeutics for Coffin-Siris Syndrome 1

Search Clinical Trials, NIH Clinical Center for Coffin-Siris Syndrome 1

Cochrane evidence based reviews: coffin-siris syndrome

Genetic Tests for Coffin-Siris Syndrome 1

Genetic tests related to Coffin-Siris Syndrome 1:

# Genetic test Affiliating Genes
1 Coffin-Siris Syndrome 1 28 ARID1B
2 Coffin-Siris Syndrome 28

Anatomical Context for Coffin-Siris Syndrome 1

Organs/tissues related to Coffin-Siris Syndrome 1:

MalaCards : Bone, Heart, Brain, Kidney, Thyroid, Uterus, Skin
ODiseA: Brain, Respiratory System-Lung, Respiratory System, Kidney

Publications for Coffin-Siris Syndrome 1

Articles related to Coffin-Siris Syndrome 1:

(show top 50) (show all 312)
# Title Authors PMID Year
1
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 62 24 57 5
23929686 2013
2
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 62 24 57 5
22426308 2012
3
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 62 24 57 5
22426309 2012
4
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. 24 57 5
22405089 2012
5
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. 62 57 5
28323383 2017
6
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 62 24 5
29429572 2018
7
Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females. 57 5
15057123 2004
8
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. 62 24 57
11170086 2001
9
Brachymorphism-onychodysplasia-dysphalangism syndrome. 62 24 57
8445623 1993
10
The Coffin-Siris syndrome: report of a family and further delineation. 62 24 57
6499251 1984
11
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 24 57
23906836 2013
12
Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome. 62 5
33768696 2021
13
Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. 62 57
25169447 2014
14
Is this the Coffin-Siris syndrome or the BOD syndrome? 62 57
19215055 2009
15
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. 62 57
18203175 2008
16
Upper gastrointestinal malformations in Coffin-Siris syndrome. 62 57
17523151 2007
17
Autosomal dominant syndrome resembling Coffin-Siris syndrome. 62 57
16691594 2006
18
Premature thelarche in Coffin-Siris syndrome. 62 57
12910500 2003
19
Dandy-Walker variant in Coffin-Siris syndrome. 62 57
11298377 2001
20
Candidate region for Coffin-Siris syndrome at 7q32-->34. 62 57
10925390 2000
21
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. 62 57
9286450 1997
22
Hypoglycemia in Coffin-Siris syndrome. 62 57
8849011 1995
23
The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children. 62 57
8591667 1995
24
Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome. 62 57
8775417 1995
25
Choanal atresia in two unrelated patients with the Coffin-Siris syndrome. 62 57
1493645 1992
26
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. 62 57
1724113 1991
27
Coffin-Siris syndrome with normal plasma biotinidase activity. 62 57
1915529 1991
28
Coffin-Siris syndrome. 62 57
1865473 1991
29
Partial biotinidase deficiency associated with Coffin-Siris syndrome. 62 57
2373113 1990
30
The Coffin-Siris syndrome. 62 57
2352263 1990
31
The Coffin-Siris syndrome in two siblings. 62 57
3725452 1986
32
Coffin-Siris syndrome. Neuropathologic findings. 62 57
3985811 1985
33
Lapsus--caveat emptor: Coffin-Lowry syndrome vs Coffin-Siris syndrome--an example of confusion compounded. 62 57
7294058 1981
34
The Coffin-Siris syndrome: five new cases including two siblings. 62 57
665592 1978
35
The Coffin-Siris syndrome. 62 57
645658 1978
36
Coffin-Siris syndrome. Two new cases. 62 57
4708277 1973
37
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. 5
33098347 2021
38
A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined. 62 24
31706665 2020
39
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. 62 24
30879640 2019
40
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 62 24
30661772 2019
41
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients. 62 24
29698805 2019
42
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing. 5
30526634 2018
43
Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice. 5
29286531 2018
44
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability. 5
27474218 2016
45
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. 62 24
26543203 2016
46
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. 62 24
26395437 2016
47
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. 62 24
26364901 2015
48
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 5
26350204 2015
49
Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. 5
26506440 2015
50
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 5
25741868 2015

Variations for Coffin-Siris Syndrome 1

ClinVar genetic disease variations for Coffin-Siris Syndrome 1:

5 (show top 50) (show all 399)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARID1B NM_001374828.1(ARID1B):c.4288C>T (p.Gln1430Ter) SNV Pathogenic
31208 rs387907140 GRCh37: 6:157517355-157517355
GRCh38: 6:157196221-157196221
2 ARID1B NM_001374828.1(ARID1B):c.6832_6842del (p.Ser2278fs) DEL Pathogenic
31209 rs876657379 GRCh37: 6:157528737-157528747
GRCh38: 6:157207603-157207613
3 ARID1B NM_001374828.1(ARID1B):c.3673C>T (p.Arg1225Ter) SNV Pathogenic
31210 rs387907141 GRCh37: 6:157502271-157502271
GRCh38: 6:157181137-157181137
4 ARID1B NM_001374828.1(ARID1B):c.4407T>A (p.Tyr1469Ter) SNV Pathogenic
31212 rs748363079 GRCh37: 6:157519969-157519969
GRCh38: 6:157198835-157198835
5 ARID1B NM_001374828.1(ARID1B):c.2113C>T (p.Gln705Ter) SNV Pathogenic
31213 rs387907142 GRCh37: 6:157222636-157222636
GRCh38: 6:156901502-156901502
6 ARID1B NM_001374828.1(ARID1B):c.6001del (p.Asp2001fs) DEL Pathogenic
31214 rs876657381 GRCh37: 6:157527907-157527907
GRCh38: 6:157206773-157206773
7 ARID1B NM_001374828.1(ARID1B):c.5698A>T (p.Lys1900Ter) SNV Pathogenic
31215 rs387907143 GRCh37: 6:157527604-157527604
GRCh38: 6:157206470-157206470
8 ARID1B NM_001374828.1(ARID1B):c.4991_5000del (p.Gln1664fs) DEL Pathogenic
31217 rs876657382 GRCh37: 6:157522347-157522356
GRCh38: 6:157201213-157201222
9 ARID1B NM_001374828.1(ARID1B):c.2452C>T (p.Gln818Ter) SNV Pathogenic
224158 rs869312712 GRCh37: 6:157406000-157406000
GRCh38: 6:157084866-157084866
10 ARID1B NM_001374828.1(ARID1B):c.6469C>T (p.Gln2157Ter) SNV Pathogenic
224135 rs869312697 GRCh37: 6:157528375-157528375
GRCh38: 6:157207241-157207241
11 ARID1B NM_001374828.1(ARID1B):c.6624_6625del (p.Leu2209_Cys2210insTer) DEL Pathogenic
267263 rs886040958 GRCh37: 6:157528529-157528530
GRCh38: 6:157207395-157207396
12 ARID1B NM_001374828.1(ARID1B):c.4058+1G>C SNV Pathogenic
374317 rs1057518691 GRCh37: 6:157510915-157510915
GRCh38: 6:157189781-157189781
13 ARID1B NM_001374828.1(ARID1B):c.6199C>T (p.Arg2067Ter) SNV Pathogenic
431136 rs1028186690 GRCh37: 6:157528105-157528105
GRCh38: 6:157206971-157206971
14 ARID1B NM_001374828.1(ARID1B):c.2051dup (p.Tyr684Ter) DUP Pathogenic
438280 rs1554265275 GRCh37: 6:157222573-157222574
GRCh38: 6:156901439-156901440
15 ARID1B NM_001374828.1(ARID1B):c.3714+2T>G SNV Pathogenic
438281 rs1404726383 GRCh37: 6:157502314-157502314
GRCh38: 6:157181180-157181180
16 ARID1B NM_001374828.1(ARID1B):c.2468dup (p.Ile824fs) DUP Pathogenic
438279 rs1554294698 GRCh37: 6:157406013-157406014
GRCh38: 6:157084879-157084880
17 ARID1B NM_001374828.1(ARID1B):c.4378C>T (p.Arg1460Ter) SNV Pathogenic
488469 rs773740590 GRCh37: 6:157517445-157517445
GRCh38: 6:157196311-157196311
18 ARID1B NM_001374828.1(ARID1B):c.4001dup (p.Pro1335fs) DUP Pathogenic
524204 rs1554232959 GRCh37: 6:157510855-157510856
GRCh38: 6:157189721-157189722
19 DPF2 NM_006268.5(DPF2):c.827G>T (p.Cys276Phe) SNV Pathogenic
438643 rs1555031372 GRCh37: 11:65113452-65113452
GRCh38: 11:65345981-65345981
20 ARID1B NM_001374828.1(ARID1B):c.1867C>T (p.Gln623Ter) SNV Pathogenic
520639 rs1554256703 GRCh37: 6:157150436-157150436
GRCh38: 6:156829302-156829302
21 ARID1B NM_001374828.1(ARID1B):c.2038C>T (p.Gln680Ter) SNV Pathogenic
560948 rs1554265271 GRCh37: 6:157222561-157222561
GRCh38: 6:156901427-156901427
22 ARID1B NM_001374828.1(ARID1B):c.3597C>G (p.Tyr1199Ter) SNV Pathogenic
560949 rs1562328526 GRCh37: 6:157502195-157502195
GRCh38: 6:157181061-157181061
23 ARID1B NM_001374828.1(ARID1B):c.3917del (p.Pro1306fs) DEL Pathogenic
560950 rs1562331655 GRCh37: 6:157505566-157505566
GRCh38: 6:157184432-157184432
24 ARID1B NM_001374828.1(ARID1B):c.4106C>A (p.Ser1369Ter) SNV Pathogenic
560951 rs772973856 GRCh37: 6:157511219-157511219
GRCh38: 6:157190085-157190085
25 ARID1B NM_001374828.1(ARID1B):c.4905G>A (p.Trp1635Ter) SNV Pathogenic
560952 rs1554235834 GRCh37: 6:157522264-157522264
GRCh38: 6:157201130-157201130
26 ARID1B NM_001374828.1(ARID1B):c.5258del (p.Asp1753fs) DEL Pathogenic
560953 rs1562347066 GRCh37: 6:157522617-157522617
GRCh38: 6:157201483-157201483
27 ARID1B NM_001374828.1(ARID1B):c.7069del (p.Leu2357fs) DEL Pathogenic
560954 rs1562355401 GRCh37: 6:157528975-157528975
GRCh38: 6:157207841-157207841
28 ARID1B NM_001374828.1(ARID1B):c.4509C>G (p.Tyr1503Ter) SNV Pathogenic
585304 rs377021700 GRCh37: 6:157521868-157521868
GRCh38: 6:157200734-157200734
29 overlap with 88 genes 46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn COMPLEX Pathogenic
561258 GRCh37: 6:151443333-171115067
GRCh38:
30 ARID1B NM_001374828.1(ARID1B):c.2287G>T (p.Glu763Ter) SNV Pathogenic
620011 rs1554294593 GRCh37: 6:157405835-157405835
GRCh38: 6:157084701-157084701
31 ARID1B NM_001374828.1(ARID1B):c.1987-29738G>T SNV Pathogenic
520728 rs201653711 GRCh37: 6:157192772-157192772
GRCh38: 6:156871638-156871638
32 overlap with 3 genes GRCh37/hg19 6q25.3(chr6:156858484-157854806) CN LOSS Pathogenic
625549 GRCh37: 6:156858484-157854806
GRCh38:
33 ARID1B GRCh37/hg19 6q25.3(chr6:157133792-157495187) CN GAIN Pathogenic
625786 GRCh37: 6:157133792-157495187
GRCh38:
34 ARID1B NM_001374828.1(ARID1B):c.2677dup (p.Gln893fs) DUP Pathogenic
666554 rs1583368813 GRCh37: 6:157454255-157454256
GRCh38: 6:157133121-157133122
35 ARID1B NM_001374828.1(ARID1B):c.3937C>T (p.Gln1313Ter) SNV Pathogenic
689741 rs1554232919 GRCh37: 6:157510793-157510793
GRCh38: 6:157189659-157189659
36 ARID1B NM_001374828.1(ARID1B):c.3230_3235+7del DEL Pathogenic
689742 rs1583438967 GRCh37: 6:157488312-157488324
GRCh38: 6:157167178-157167190
37 ARID1B NM_001374828.1(ARID1B):c.2400del (p.Ser800fs) DEL Pathogenic
691270 rs1583280152 GRCh37: 6:157405948-157405948
GRCh38: 6:157084814-157084814
38 ARID1B NM_001374828.1(ARID1B):c.3345G>A (p.Lys1115=) SNV Pathogenic
694701 rs1583451360 GRCh37: 6:157495251-157495251
GRCh38: 6:157174117-157174117
39 ARID1A NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter) SNV Pathogenic
30294 rs387906846 GRCh37: 1:27100207-27100207
GRCh38: 1:26773716-26773716
40 ARID1B NM_001374828.1(ARID1B):c.1451dup (p.Phe485fs) DUP Pathogenic
802284 rs1554248082 GRCh37: 6:157100259-157100260
GRCh38: 6:156779125-156779126
41 ARID1B NM_001374828.1(ARID1B):c.4263del (p.Gly1422fs) DEL Pathogenic
802285 rs1583491381 GRCh37: 6:157517329-157517329
GRCh38: 6:157196195-157196195
42 ARID1B NM_001374828.1(ARID1B):c.4299C>A (p.Tyr1433Ter) SNV Pathogenic
802286 rs1583491515 GRCh37: 6:157517366-157517366
GRCh38: 6:157196232-157196232
43 ARID1B NM_001374828.1(ARID1B):c.6896del (p.Gln2299fs) DEL Pathogenic
802287 rs1583518354 GRCh37: 6:157528802-157528802
GRCh38: 6:157207668-157207668
44 ARID1B NM_001374828.1(ARID1B):c.1870C>T (p.Gln624Ter) SNV Pathogenic
807540 rs754167205 GRCh37: 6:157150439-157150439
GRCh38: 6:156829305-156829305
45 ARID1B NM_001374828.1(ARID1B):c.5281dup (p.Arg1761fs) DUP Pathogenic
827811 rs1794276185 GRCh37: 6:157525016-157525017
GRCh38: 6:157203882-157203883
46 ARID1B NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter) SNV Pathogenic
828172 rs1554265316 GRCh37: 6:157222630-157222630
GRCh38: 6:156901496-156901496
47 ARID1B NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter) SNV Pathogenic
374179 rs1057518951 GRCh37: 6:157150430-157150430
GRCh38: 6:156829296-156829296
48 ARID1B NM_001374828.1(ARID1B):c.4383-1G>A SNV Pathogenic
291011 rs886044620 GRCh37: 6:157519944-157519944
GRCh38: 6:157198810-157198810
49 ARID1B NM_001374828.1(ARID1B):c.4479+1G>T SNV Pathogenic
931396 rs1554235041 GRCh37: 6:157520042-157520042
GRCh38: 6:157198908-157198908
50 ARID1B NM_001374828.1(ARID1B):c.6898dup (p.His2300fs) DUP Pathogenic
931491 rs1794570475 GRCh37: 6:157528803-157528804
GRCh38: 6:157207669-157207670

Copy number variations for Coffin-Siris Syndrome 1 from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 219437 7 126900000 142800000 Copy number Coffin-Siris syndrome

Expression for Coffin-Siris Syndrome 1

Search GEO for disease gene expression data for Coffin-Siris Syndrome 1.

Pathways for Coffin-Siris Syndrome 1

Pathways related to Coffin-Siris Syndrome 1 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
2
Show member pathways
13.04 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
3
Show member pathways
12.86 ACTL6A ARID1A ARID1B ARID2 SMARCA2 SMARCA4
4 12.34 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID2 ARID1A
5
Show member pathways
12.13 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
6
Show member pathways
11.86 ACTL6A ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1
7
Show member pathways
11.75 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1
8 11.59 SMARCD1 SMARCC2 SMARCA4
9 11.54 ACTL6A ARID1A ARID1B ARID2 SMARCA2 SMARCA4
10 11.48 SMARCE1 SMARCA2 ARID1A
11
Show member pathways
11.45 ACTL6A ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1
12 10.83 SMARCE1 SMARCB1 SMARCA4
13
Show member pathways
10.81 ACTL6A ARID1A ARID1B DPF2 SMARCA4 SMARCB1

GO Terms for Coffin-Siris Syndrome 1

Cellular components related to Coffin-Siris Syndrome 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.74 ACTL6A ADNP ANKRD11 ARID1A ARID1B ARID2
2 nucleoplasm GO:0005654 10.7 ACTL6A ANKRD11 ARID1A ARID1B ARID2 BANF1
3 chromatin GO:0000785 10.66 ACTL6A ADNP ARID1A ARID1B ARID2 BANF1
4 SWI/SNF complex GO:0016514 10.4 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
5 kinetochore GO:0000776 10.36 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 ARID2
6 nBAF complex GO:0071565 10.36 SMARCA4 SMARCA2 DPF2 ARID1B ARID1A SMARCE1
7 nuclear matrix GO:0016363 10.34 ACTL6A ARID2 SMARCA4 SMARCB1 SMARCC2 SMARCD1
8 npBAF complex GO:0071564 10.32 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
9 RSC-type complex GO:0016586 10.28 ACTL6A ARID2 SMARCA4 SMARCB1 SMARCC2 SMARCD1
10 GBAF complex GO:0140288 10.18 SMARCD1 SMARCA4 SMARCA2 BICRA ACTL6A
11 bBAF complex GO:0140092 10 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID1B
12 SWI/SNF superfamily-type complex GO:0070603 9.8 SMARCB1 SMARCA4 SMARCA2 ARID2 ARID1B ARID1A
13 brahma complex GO:0035060 9.53 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA2 ARID1B
14 DNA packaging complex GO:0044815 9.5 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID2 ARID1B

Biological processes related to Coffin-Siris Syndrome 1 according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.69 ACTL6A ADNP ARID1A ARID1B ARID2 BICRA
2 positive regulation of DNA-templated transcription GO:0045893 10.58 ACTL6A ARID1A ARID1B BICRA SMARCA2 SMARCA4
3 nervous system development GO:0007399 10.52 ACTL6A ARID1A ARID1B DPF2 SMARCA2 SMARCA4
4 positive regulation of myoblast differentiation GO:0045663 10.52 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1
5 regulation of G0 to G1 transition GO:0070316 10.5 ACTL6A ARID1A ARID1B ARID2 DPF2 SMARCA2
6 chromatin remodeling GO:0006338 10.48 ACTL6A ARID1A ARID1B ARID2 BICRA DPF2
7 regulation of G1/S transition of mitotic cell cycle GO:2000045 10.47 ACTL6A ARID1A ARID1B ARID2 DPF2 SMARCA2
8 positive regulation of cell population proliferation GO:0008284 10.43 SOX4 SOX11 SMARCD1 SMARCA4 SMARCA2 BICRA
9 regulation of mitotic metaphase/anaphase transition GO:0030071 10.41 ACTL6A ARID1A ARID1B ARID2 DPF2 SMARCA2
10 nucleosome disassembly GO:0006337 10.36 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 ARID2
11 positive regulation of T cell differentiation GO:0045582 10.32 ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1 SMARCC2
12 chromatin organization GO:0006325 10.31 ACTL6A ARID1A ARID1B ARID2 BANF1 DPF2
13 negative regulation of cell differentiation GO:0045596 10.26 ACTL6A BICRA SMARCA2 SMARCA4 SMARCD1
14 positive regulation of cell differentiation GO:0045597 10.26 ACTL6A ARID1A ARID1B ARID2 SMARCA2 SMARCA4
15 positive regulation of stem cell population maintenance GO:1902459 10.11 ACTL6A ARID1A BICRA DPF2 SMARCA2 SMARCA4
16 spinal cord development GO:0021510 10.07 SOX4 SOX11 ACTL6A
17 transcription initiation-coupled chromatin remodeling GO:0045815 10.05 SMARCD1 ARID1B ARID1A
18 positive regulation of double-strand break repair GO:2000781 10 ACTL6A ARID1A ARID1B ARID2 DPF2 SMARCA2
19 neuroepithelial cell differentiation GO:0060563 9.95 SOX4 SOX11
20 limb bud formation GO:0060174 9.94 SOX4 SOX11
21 DNA integration GO:0015074 9.94 SMARCB1 BANF1
22 RNA polymerase I preinitiation complex assembly GO:0001188 9.93 SMARCB1 SMARCA4
23 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.93 SMARCB1 SMARCA4
24 neural tube formation GO:0001841 9.92 SOX4 SOX11
25 noradrenergic neuron differentiation GO:0003357 9.92 SOX4 SOX11
26 cardiac ventricle formation GO:0003211 9.91 SOX4 SOX11
27 glial cell development GO:0021782 9.91 SOX4 SOX11
28 positive regulation of glucose mediated signaling pathway GO:1902661 9.9 SMARCA4 SMARCB1
29 DNA-templated transcription elongation GO:0006354 9.87 SMARCD1 SMARCB1 MED13L DPF2
30 regulation of nucleotide-excision repair GO:2000819 9.66 ACTL6A ARID1A ARID1B ARID2 DPF2 SMARCA2

Molecular functions related to Coffin-Siris Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.11 ADNP ARID1A ARID1B ARID2 BANF1 SMARCA2
2 chromatin binding GO:0003682 10 SMARCE1 SMARCD1 SMARCC2 SMARCA2 ADNP ACTL6A
3 histone binding GO:0042393 9.98 SMARCC2 SMARCA4 SMARCA2 DPF2
4 transcription coregulator activity GO:0003712 9.92 DPF2 MED13L SMARCB1 SMARCD1
5 Tat protein binding GO:0030957 9.71 SMARCB1 SMARCA4
6 RNA polymerase I core promoter sequence-specific DNA binding GO:0001164 9.67 SMARCB1 SMARCA4
7 nucleosomal DNA binding GO:0031492 9.65 SMARCE1 SMARCC2 SMARCB1 SMARCA4 ACTL6A
8 transcription coactivator activity GO:0003713 9.58 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2

Sources for Coffin-Siris Syndrome 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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