Coffin-Siris Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description 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. (Human Disease Ontology, DOID_1925)
External Link https://www.disgenet.org/browser/0/1/0/C0265338
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Genes

54 genes associated with the disease Coffin-Siris Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ATM ATM serine/threonine kinase
ATR ATR serine/threonine kinase
BANF1 barrier to autointegration factor 1
CCL26 chemokine (C-C motif) ligand 26
CD14 CD14 molecule
CMAS cytidine monophosphate N-acetylneuraminic acid synthetase
CPED1 cadherin-like and PC-esterase domain containing 1
DPF2 D4, zinc and double PHD fingers family 2
EDN1 endothelin 1
FAM3C family with sequence similarity 3, member C
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-DRB4 major histocompatibility complex, class II, DR beta 4
IL10 interleukin 10
IL17RB interleukin 17 receptor B
IL25 interleukin 25
IL5 interleukin 5
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MPO myeloperoxidase
MYDGF myeloid-derived growth factor
NIPBL Nipped-B homolog (Drosophila)
PGR progesterone receptor
PHF6 PHD finger protein 6
PREP prolyl endopeptidase
PRTN3 proteinase 3
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
SARDH sarcosine dehydrogenase
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SDS serine dehydratase
SET SET nuclear proto-oncogene
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SORD sorbitol dehydrogenase
SOX11 SRY (sex determining region Y)-box 11
SOX4 SRY (sex determining region Y)-box 4
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TNF tumor necrosis factor
TNFRSF10C tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
WNT16 wingless-type MMTV integration site family, member 16