CSS2
MCID: CFF007
MIFTS: 43

Coffin-Siris Syndrome 2 (CSS2)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Coffin-Siris Syndrome 2

MalaCards integrated aliases for Coffin-Siris Syndrome 2:

Name: Coffin-Siris Syndrome 2 57 12 72 15
Mental Retardation, Autosomal Dominant 14 57 72 29 13 6 70
Mrd14 57 12 72
Css2 57 12 72
Mental Retardation, Autosomal Dominant 14; Mrd14 57
Autosomal Dominant Mental Retardation 14 12
Syndrome, Coffin-Siris, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
coffin-siris syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Coffin-Siris Syndrome 2

OMIM® : 57 Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies. (614607) (Updated 20-May-2021)

MalaCards based summary : Coffin-Siris Syndrome 2, also known as mental retardation, autosomal dominant 14, is related to ovarian carcinosarcoma and progressive relapsing multiple sclerosis. An important gene associated with Coffin-Siris Syndrome 2 is ARID1A (AT-Rich Interaction Domain 1A), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. Affiliated tissues include eye, heart and bone, and related phenotypes are short stature and seizure

Disease Ontology : 12 A Coffin-Siris syndrome that has material basis in an autosomal dominant mutation of ARID1A on chromosome 1p36.11.

UniProtKB/Swiss-Prot : 72 Coffin-Siris syndrome 2: 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.

Related Diseases for Coffin-Siris Syndrome 2

Graphical network of the top 20 diseases related to Coffin-Siris Syndrome 2:



Diseases related to Coffin-Siris Syndrome 2

Symptoms & Phenotypes for Coffin-Siris Syndrome 2

Human phenotypes related to Coffin-Siris Syndrome 2:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 short stature 31 occasional (7.5%) HP:0004322
2 seizure 31 occasional (7.5%) HP:0001250
3 coarse facial features 31 very rare (1%) HP:0000280
4 thick lower lip vermilion 31 very rare (1%) HP:0000179
5 wide mouth 31 very rare (1%) HP:0000154
6 sparse scalp hair 31 very rare (1%) HP:0002209
7 long eyelashes 31 very rare (1%) HP:0000527
8 feeding difficulties 31 very rare (1%) HP:0011968
9 recurrent infections 31 very rare (1%) HP:0002719
10 abnormal corpus callosum morphology 31 very rare (1%) HP:0001273
11 absent fifth fingernail 31 very rare (1%) HP:0200104
12 absent fifth toenail 31 very rare (1%) HP:0200105
13 intellectual disability 31 HP:0001249
14 macroglossia 31 HP:0000158
15 global developmental delay 31 HP:0001263
16 delayed skeletal maturation 31 HP:0002750
17 depressed nasal bridge 31 HP:0005280
18 delayed speech and language development 31 HP:0000750
19 anteverted nares 31 HP:0000463
20 visual impairment 31 HP:0000505
21 thick eyebrow 31 HP:0000574
22 brachydactyly 31 HP:0001156
23 low anterior hairline 31 HP:0000294
24 wide nose 31 HP:0000445
25 abnormality of cardiovascular system morphology 31 HP:0030680
26 abnormal heart morphology 31 HP:0001627
27 generalized hypotonia 31 HP:0001290
28 small nail 31 HP:0001792
29 abnormality of the pinna 31 HP:0000377
30 hypertrichosis 31 HP:0000998
31 aplasia/hypoplasia of the distal phalanges of the hand 31 HP:0009835

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Mouth:
macroglossia
large mouth
thin upper vermilion
thick lower vermilion

Skeletal Hands:
brachydactyly
hypoplastic to absent terminal phalanges (especially fifth finger)

Neurologic Central Nervous System:
hypotonia
mental retardation
seizures (in some patients)
speech delay
delayed psychomotor development
more
Skin Nails Hair Nails:
hypoplastic nails

Head And Neck Face:
coarse facies

Abdomen Gastrointestinal:
feeding problems

Growth Height:
short stature (in some patients)

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

Head And Neck Eyes:
visual impairment
long eyelashes
thick eyebrows

Skin Nails Hair Hair:
sparse scalp hair
hypertrichosis
low frontal hairline

Head And Neck Nose:
anteverted nostrils
broad nose
flat nasal bridge

Skeletal:
delayed bone age

Cardiovascular Heart:
congenital heart defects

Head And Neck Ears:
malformed ears

Head And Neck Teeth:
delayed dentition

Clinical features from OMIM®:

614607 (Updated 20-May-2021)

Drugs & Therapeutics for Coffin-Siris Syndrome 2

Search Clinical Trials , NIH Clinical Center for Coffin-Siris Syndrome 2

Genetic Tests for Coffin-Siris Syndrome 2

Genetic tests related to Coffin-Siris Syndrome 2:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 14 29 ARID1A

Anatomical Context for Coffin-Siris Syndrome 2

MalaCards organs/tissues related to Coffin-Siris Syndrome 2:

40
Eye, Heart, Bone, Breast

Publications for Coffin-Siris Syndrome 2

Articles related to Coffin-Siris Syndrome 2:

(show all 29)
# Title Authors PMID Year
1
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. 6 57
25168959 2014
2
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 57 6
23906836 2013
3
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 57 6
23929686 2013
4
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 6 57
22426308 2012
5
Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders. 6
30123105 2018
6
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features. 57
27906199 2017
7
The SWI/SNF chromatin remodelling complex is required for maintenance of lineage specific enhancers. 6
28262751 2017
8
Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. 6
25169878 2014
9
190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly. 57
23521658 2013
10
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. 6
23637025 2013
11
Coffin-Siris Syndrome 6
23556151 2013
12
SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability. 6
23010866 2012
13
The three-dimensional structure of the toxic peptide Cl13 from the scorpion Centruroides limpidus. 61
32569846 2020
14
Persistence of Nasopharyngeal Pneumococcal Vaccine Serotypes and Increase of Nonvaccine Serotypes Among Vaccinated Infants and Their Mothers 5 Years After Introduction of Pneumococcal Conjugate Vaccine 13 in The Gambia. 61
30165376 2019
15
Design and expression of recombinant toxins from Mexican scorpions of the genus Centruroides for production of antivenoms. 61
28126552 2017
16
Mapping of a FEB3 homologous febrile seizure locus on mouse chromosome 2 containing candidate genes Scn1a and Scn3a. 61
27690330 2016
17
Effect on nasopharyngeal pneumococcal carriage of replacing PCV7 with PCV13 in the Expanded Programme of Immunization in The Gambia. 61
26592141 2015
18
Is Speed Reserve Related to Critical Speed and Anaerobic Distance Capacity in Swimming? 61
24513615 2015
19
Study of expression of TLR2, TLR4 and transckription factor NF-kB structures of galt of rats in the conditions of the chronic social stress and modulation of structure of intestinal microflora. 61
24423688 2013
20
Chondroitin sulfate synthase-2 is necessary for chain extension of chondroitin sulfate but not critical for skeletal development. 61
22952769 2012
21
Structural basis of neutralization of the major toxic component from the scorpion Centruroides noxius Hoffmann by a human-derived single-chain antibody fragment. 61
21489992 2011
22
Exploiting cross-reactivity to neutralize two different scorpion venoms with one single chain antibody fragment. 61
21156801 2011
23
Chondroitin sulfate synthase-2/chondroitin polymerizing factor has two variants with distinct function. 61
20729547 2010
24
Phenotyping mouse chromosome substitution strains reveal multiple QTLs for febrile seizure susceptibility. 61
19077119 2009
25
Expression of calpain small subunit 2 in mammalian tissues. 61
15590481 2004
26
Differential distribution of calpain small subunit 1 and 2 in rat brain. 61
15078555 2004
27
A novel human small subunit of calpains. 61
11853546 2002
28
Influence of pharmacokinetic model on vancomycin peak concentration targets. 61
8721276 1996
29
Coherent beam and image amplification by Brillouin two-beam coupling in CSS2. 61
19768025 1990

Variations for Coffin-Siris Syndrome 2

ClinVar genetic disease variations for Coffin-Siris Syndrome 2:

6 (show top 50) (show all 61)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARID1A NM_006015.6(ARID1A):c.2758C>T (p.Gln920Ter) SNV Pathogenic 30293 rs387906845 GRCh37: 1:27092737-27092737
GRCh38: 1:26766246-26766246
2 ARID1A NM_006015.6(ARID1A):c.1113del (p.Gln372fs) Deletion Pathogenic 225843 rs875989848 GRCh37: 1:27024002-27024002
GRCh38: 1:26697511-26697511
3 ARID1A NM_006015.6(ARID1A):c.3679G>T (p.Glu1227Ter) SNV Pathogenic 225844 rs875989849 GRCh37: 1:27099442-27099442
GRCh38: 1:26772951-26772951
4 ARID1A NM_006015.6(ARID1A):c.5965C>T (p.Arg1989Ter) SNV Pathogenic 225842 rs879255270 GRCh37: 1:27106354-27106354
GRCh38: 1:26779863-26779863
5 ARID1A NM_006015.6(ARID1A):c.1348C>T (p.Gln450Ter) SNV Pathogenic 560946 rs1557591264 GRCh37: 1:27056352-27056352
GRCh38: 1:26729861-26729861
6 ARID1A NM_006015.6(ARID1A):c.6134_6138del (p.Lys2045fs) Deletion Pathogenic 560947 rs1557620758 GRCh37: 1:27106523-27106527
GRCh38: 1:26780032-26780036
7 ARID1A NM_006015.6(ARID1A):c.2879-1G>A SNV Pathogenic 812670 rs1570607996 GRCh37: 1:27092947-27092947
GRCh38: 1:26766456-26766456
8 ARID1A NM_006015.6(ARID1A):c.5693del (p.Pro1898fs) Deletion Pathogenic 816871 rs1570621899 GRCh37: 1:27106078-27106078
GRCh38: 1:26779587-26779587
9 ARID1A NM_006015.6(ARID1A):c.750_771dup (p.Ser258fs) Duplication Pathogenic 623658 rs1557570794 GRCh37: 1:27023643-27023644
GRCh38: 1:26697152-26697153
10 ARID1A NM_006015.6(ARID1A):c.3196C>T (p.Gln1066Ter) SNV Pathogenic 986358 GRCh37: 1:27094488-27094488
GRCh38: 1:26767997-26767997
11 ARID1A NM_006015.6(ARID1A):c.394del (p.Val132fs) Deletion Pathogenic 210259 rs797045263 GRCh37: 1:27023285-27023285
GRCh38: 1:26696794-26696794
12 ARID1A NM_006015.6(ARID1A):c.5164C>T (p.Arg1722Ter) SNV Pathogenic 434343 rs1485978447 GRCh37: 1:27105553-27105553
GRCh38: 1:26779062-26779062
13 ARID1A NM_006015.6(ARID1A):c.921_940del (p.Tyr308fs) Deletion Pathogenic 434335 rs1553146165 GRCh37: 1:27023808-27023827
GRCh38: 1:26697317-26697336
14 ARID1A NM_006015.6(ARID1A):c.1602C>A (p.Tyr534Ter) SNV Pathogenic 973289 GRCh37: 1:27057894-27057894
GRCh38: 1:26731403-26731403
15 ARID1A NM_006015.6(ARID1A):c.31_56del (p.Ser11fs) Deletion Pathogenic 30292 rs797045262 GRCh37: 1:27022913-27022938
GRCh38: 1:26696422-26696447
16 ARID1A NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter) SNV Pathogenic 30294 rs387906846 GRCh37: 1:27100207-27100207
GRCh38: 1:26773716-26773716
17 ARID1A NM_006015.6(ARID1A):c.5531G>A (p.Trp1844Ter) SNV Pathogenic 984945 GRCh37: 1:27105920-27105920
GRCh38: 1:26779429-26779429
18 ARID1A NM_006015.6(ARID1A):c.5138T>C (p.Leu1713Pro) SNV Likely pathogenic 210260 rs797045264 GRCh37: 1:27105527-27105527
GRCh38: 1:26779036-26779036
19 ARID1A NM_006015.6(ARID1A):c.6196A>T (p.Asn2066Tyr) SNV Likely pathogenic 801462 rs1570622663 GRCh37: 1:27106585-27106585
GRCh38: 1:26780094-26780094
20 ARID1A NM_006015.6(ARID1A):c.3033G>T (p.Leu1011Phe) SNV Likely pathogenic 452118 rs1553152590 GRCh37: 1:27094325-27094325
GRCh38: 1:26767834-26767834
21 ARID1A NM_006015.6(ARID1A):c.4860dup (p.Pro1621fs) Duplication Likely pathogenic 559859 rs1553153291 GRCh37: 1:27101577-27101578
GRCh38: 1:26775086-26775087
22 ARID1A NM_006015.6(ARID1A):c.5963T>C (p.Ile1988Thr) SNV Likely pathogenic 1028997 GRCh37: 1:27106352-27106352
GRCh38: 1:26779861-26779861
23 ARID1A NM_006015.6(ARID1A):c.3198+2dup Duplication Likely pathogenic 988744 GRCh37: 1:27094491-27094492
GRCh38: 1:26768000-26768001
24 ARID1A NM_006015.6(ARID1A):c.3067T>C (p.Trp1023Arg) SNV Likely pathogenic 635055 rs1557612048 GRCh37: 1:27094359-27094359
GRCh38: 1:26767868-26767868
25 ARID1A NM_006015.6(ARID1A):c.4102-1G>C SNV Likely pathogenic 975871 GRCh37: 1:27100819-27100819
GRCh38: 1:26774328-26774328
26 ARID1A NM_006015.6(ARID1A):c.6518A>T (p.Asn2173Ile) SNV Likely pathogenic 917881 GRCh37: 1:27106907-27106907
GRCh38: 1:26780416-26780416
27 ARID1A NM_006015.6(ARID1A):c.3148G>T (p.Asp1050Tyr) SNV Likely pathogenic 689740 rs1570609440 GRCh37: 1:27094440-27094440
GRCh38: 1:26767949-26767949
28 ARID1A NM_006015.6(ARID1A):c.592C>T (p.Pro198Ser) SNV Uncertain significance 801460 rs777557012 GRCh37: 1:27023486-27023486
GRCh38: 1:26696995-26696995
29 ARID1A NM_006015.6(ARID1A):c.849_854del (p.Gly284_Gly285del) Deletion Uncertain significance 976055 GRCh37: 1:27023741-27023746
GRCh38: 1:26697250-26697255
30 ARID1A NM_006015.6(ARID1A):c.261_275del (p.Ala88_Gly92del) Deletion Uncertain significance 976365 GRCh37: 1:27023148-27023162
GRCh38: 1:26696657-26696671
31 ARID1A NM_006015.6(ARID1A):c.4004+5G>A SNV Uncertain significance 982636 GRCh37: 1:27100213-27100213
GRCh38: 1:26773722-26773722
32 ARID1A NM_006015.6(ARID1A):c.4783A>G (p.Met1595Val) SNV Uncertain significance 918059 GRCh37: 1:27101501-27101501
GRCh38: 1:26775010-26775010
33 ARID1A NM_006015.6(ARID1A):c.1712C>T (p.Ser571Leu) SNV Uncertain significance 1028989 GRCh37: 1:27058004-27058004
GRCh38: 1:26731513-26731513
34 ARID1A NM_006015.6(ARID1A):c.2320C>T (p.Arg774Cys) SNV Uncertain significance 434339 rs1466882490 GRCh37: 1:27088711-27088711
GRCh38: 1:26762220-26762220
35 ARID1A NM_006015.6(ARID1A):c.2756A>G (p.Asn919Ser) SNV Uncertain significance 1028990 GRCh37: 1:27092735-27092735
GRCh38: 1:26766244-26766244
36 ARID1A NM_006015.6(ARID1A):c.289G>A (p.Glu97Lys) SNV Uncertain significance 1028991 GRCh37: 1:27023183-27023183
GRCh38: 1:26696692-26696692
37 ARID1A NM_006015.6(ARID1A):c.3049G>A (p.Glu1017Lys) SNV Uncertain significance 1028992 GRCh37: 1:27094341-27094341
GRCh38: 1:26767850-26767850
38 ARID1A NM_006015.6(ARID1A):c.326C>G (p.Pro109Arg) SNV Uncertain significance 1028993 GRCh37: 1:27023220-27023220
GRCh38: 1:26696729-26696729
39 ARID1A NM_006015.6(ARID1A):c.3276G>T (p.Leu1092Phe) SNV Uncertain significance 1028994 GRCh37: 1:27097687-27097687
GRCh38: 1:26771196-26771196
40 ARID1A NM_006015.6(ARID1A):c.3539+5G>A SNV Uncertain significance 1028995 GRCh37: 1:27099128-27099128
GRCh38: 1:26772637-26772637
41 ARID1A NM_006015.6(ARID1A):c.4792C>T (p.Arg1598Cys) SNV Uncertain significance 1028996 GRCh37: 1:27101510-27101510
GRCh38: 1:26775019-26775019
42 ARID1A NM_006015.6(ARID1A):c.2186C>T (p.Pro729Leu) SNV Uncertain significance 989255 GRCh37: 1:27087899-27087899
GRCh38: 1:26761408-26761408
43 ARID1A NM_006015.6(ARID1A):c.5254A>G (p.Lys1752Glu) SNV Uncertain significance 989290 GRCh37: 1:27105643-27105643
GRCh38: 1:26779152-26779152
44 ARID1A NM_006015.6(ARID1A):c.1113G>A (p.Gly371=) SNV Uncertain significance 992978 GRCh37: 1:27024007-27024007
GRCh38: 1:26697516-26697516
45 ARID1A NM_006015.6(ARID1A):c.163G>A (p.Gly55Arg) SNV Uncertain significance 976860 GRCh37: 1:27023057-27023057
GRCh38: 1:26696566-26696566
46 ARID1A NM_006015.6(ARID1A):c.2852G>A (p.Gly951Asp) SNV Uncertain significance 996956 GRCh37: 1:27092831-27092831
GRCh38: 1:26766340-26766340
47 ARID1A NM_006015.6(ARID1A):c.3408G>A (p.Ala1136=) SNV Uncertain significance 434322 rs146598030 GRCh37: 1:27098992-27098992
GRCh38: 1:26772501-26772501
48 ARID1A NM_006015.6(ARID1A):c.6099GGA[2] (p.Glu2036del) Microsatellite Uncertain significance 930845 GRCh37: 1:27106487-27106489
GRCh38: 1:26779996-26779998
49 ARID1A NM_006015.6(ARID1A):c.1430A>G (p.His477Arg) SNV Uncertain significance 1031594 GRCh37: 1:27057722-27057722
GRCh38: 1:26731231-26731231
50 ARID1A NM_006015.6(ARID1A):c.197C>G (p.Pro66Arg) SNV Uncertain significance 1031595 GRCh37: 1:27023091-27023091
GRCh38: 1:26696600-26696600

Expression for Coffin-Siris Syndrome 2

Search GEO for disease gene expression data for Coffin-Siris Syndrome 2.

Pathways for Coffin-Siris Syndrome 2

Pathways related to Coffin-Siris Syndrome 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.1 CSGALNACT2 CSGALNACT1 CHSY1 CHPF2 CHPF
2
Show member pathways
11.53 CSGALNACT2 CSGALNACT1 CHSY1 CHPF2 CHPF

GO Terms for Coffin-Siris Syndrome 2

Cellular components related to Coffin-Siris Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.85 CSGALNACT2 CSGALNACT1 COLEC10 CHSY1 CHPF2 CHPF
2 Golgi membrane GO:0000139 9.55 CSGALNACT2 CSGALNACT1 CHSY1 CHPF2 CHPF
3 SWI/SNF complex GO:0016514 9.32 SMARCE1 ARID1A
4 nBAF complex GO:0071565 9.26 SMARCE1 ARID1A
5 Golgi cisterna membrane GO:0032580 9.02 CSGALNACT2 CSGALNACT1 CHSY1 CHPF2 CHPF
6 npBAF complex GO:0071564 8.96 SMARCE1 ARID1A

Biological processes related to Coffin-Siris Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent chromatin remodeling GO:0043044 9.4 ARID1A SMARCE1
2 proteoglycan biosynthetic process GO:0030166 9.37 CSGALNACT1 CSGALNACT2
3 chondroitin sulfate proteoglycan biosynthetic process GO:0050650 9.32 CSGALNACT1 CSGALNACT2
4 dermatan sulfate proteoglycan biosynthetic process GO:0050651 9.26 CSGALNACT1 CSGALNACT2
5 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0050653 9.16 CSGALNACT1 CSGALNACT2
6 nucleosome disassembly GO:0006337 9.13 ARID2 SMARCE1 ARID1A
7 chondroitin sulfate biosynthetic process GO:0030206 9.02 CSGALNACT2 CSGALNACT1 CHSY1 CHPF2 CHPF

Molecular functions related to Coffin-Siris Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 acetylgalactosaminyltransferase activity GO:0008376 9.35 CSGALNACT2 CSGALNACT1 CHSY1 CHPF2 CHPF
2 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity GO:0050510 9.33 CHSY1 CHPF2 CHPF
3 nuclear receptor binding GO:0016922 9.32 SMARCE1 ARID1A
4 glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity GO:0047237 9.26 CSGALNACT2 CSGALNACT1
5 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity GO:0047238 9.02 CSGALNACT2 CSGALNACT1 CHSY1 CHPF2 CHPF

Sources for Coffin-Siris Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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