Smith-Lemli-Opitz Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_14692)
External Link https://www.disgenet.org/browser/0/1/0/C0175694
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Genes

30 genes associated with the disease Smith-Lemli-Opitz Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ACAD8 acyl-CoA dehydrogenase family, member 8
ACADSB acyl-CoA dehydrogenase, short/branched chain
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOE apolipoprotein E
AUH AU RNA binding protein/enoyl-CoA hydratase
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSD cathepsin D
DHCR7 7-dehydrocholesterol reductase
FDFT1 farnesyl-diphosphate farnesyltransferase 1
FZD1 frizzled class receptor 1
FZD5 frizzled class receptor 5
GJB6 gap junction protein, beta 6, 30kDa
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
LDLR low density lipoprotein receptor
MED19 mediator complex subunit 19
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
PAX6 paired box 6
POMC proopiomelanocortin
RHO rhodopsin
SAFB scaffold attachment factor B
SC5D sterol-C5-desaturase
SHH sonic hedgehog
SLC22A18 solute carrier family 22, member 18
STS steroid sulfatase (microsomal), isozyme S
TRPA1 transient receptor potential cation channel, subfamily A, member 1
TRPV1 transient receptor potential cation channel, subfamily V, member 1