Shprintzen Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0220704
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Genes

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

Symbol Name
APOL1 apolipoprotein L, 1
ARSA arylsulfatase A
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
CHRD chordin
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CLDN5 claudin 5
CLTC clathrin, heavy chain (Hc)
COMT catechol-O-methyltransferase
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
DGCR2 DiGeorge syndrome critical region gene 2
DGCR6 DiGeorge syndrome critical region gene 6
DGCR6L DiGeorge syndrome critical region gene 6-like
DGCR8 DGCR8 microprocessor complex subunit
EDN1 endothelin 1
EDNRA endothelin receptor type A
ESS2 ess-2 splicing factor homolog
FGF8 fibroblast growth factor 8 (androgen-induced)
GCOM1 GRINL1A complex locus 1
GP1BB glycoprotein Ib (platelet), beta polypeptide
GSC2 goosecoid homeobox 2
HIRA histone cell cycle regulator
JMJD1C jumonji domain containing 1C
MAPK1 mitogen-activated protein kinase 1
MBD5 methyl-CpG binding domain protein 5
MED15 mediator complex subunit 15
MRPL40 mitochondrial ribosomal protein L40
MYZAP myocardial zonula adherens protein
POLR2M polymerase (RNA) II (DNA directed) polypeptide M
PRDM9 PR domain containing 9
PRICKLE1 prickle homolog 1 (Drosophila)
PRODH proline dehydrogenase (oxidase) 1
RANBP1 RAN binding protein 1
RREB1 ras responsive element binding protein 1
SEC24C SEC24 family member C
SEPT5 septin 5
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC7A4 solute carrier family 7, member 4
SNAP29 synaptosomal-associated protein, 29kDa
TBX1 T-box 1
TBX3 T-box 3
TBX5 T-box 5
TRAPPC10 trafficking protein particle complex 10
UFD1 ubiquitin recognition factor in ER associated degradation 1