smith-lemli-opitz syndrome Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_14692)
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Genes

77 genes co-occuring with the disease smith-lemli-opitz syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
DHCR7 7-dehydrocholesterol reductase 3.97247
SC5D sterol-C5-desaturase 1.87056
MSMO1 methylsterol monooxygenase 1 1.63366
EBP emopamil binding protein (sterol isomerase) 1.57156
SHH sonic hedgehog 1.45001
NSDHL NAD(P) dependent steroid dehydrogenase-like 1.2395
FDFT1 farnesyl-diphosphate farnesyltransferase 1 1.17507
SCAP SREBF chaperone 1.1194
ACAD8 acyl-CoA dehydrogenase family, member 8 1.11898
STS steroid sulfatase (microsomal), isozyme S 1.06186
FKBP14 FK506 binding protein 14, 22 kDa 1.00752
ACADSB acyl-CoA dehydrogenase, short/branched chain 0.988957
SMO smoothened, frizzled class receptor 0.963309
ROGDI rogdi homolog (Drosophila) 0.955361
AUH AU RNA binding protein/enoyl-CoA hydratase 0.928759
BCKDK branched chain ketoacid dehydrogenase kinase 0.872053
KIF27 kinesin family member 27 0.821257
DHCR24 24-dehydrocholesterol reductase 0.804436
TMEM216 transmembrane protein 216 0.799923
KIF7 kinesin family member 7 0.794181
HSD17B1P1 hydroxysteroid (17-beta) dehydrogenase 1 pseudogene 1 0.779841
HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 0.757378
SIX3 SIX homeobox 3 0.740705
PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 0.73746
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 0.717232
PTCH1 patched 1 0.715215
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 0.702732
MKS1 Meckel syndrome, type 1 0.685891
MVK mevalonate kinase 0.685091
ADAM19 ADAM metallopeptidase domain 19 0.679898
GRM8 glutamate receptor, metabotropic 8 0.634742
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 0.634349
TMEM67 transmembrane protein 67 0.631598
SREBF2 sterol regulatory element binding transcription factor 2 0.620226
COASY CoA synthase 0.615138
ADSL adenylosuccinate lyase 0.612401
CDON cell adhesion associated, oncogene regulated 0.605372
EVC2 Ellis van Creveld syndrome 2 0.60225
DHRS9 dehydrogenase/reductase (SDR family) member 9 0.60069
INSIG1 insulin induced gene 1 0.591727
POR P450 (cytochrome) oxidoreductase 0.572273
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 0.569552
INSIG2 insulin induced gene 2 0.560616
PTCH2 patched 2 0.531154
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 0.528063
GAS1 growth arrest-specific 1 0.522659
HIP1 huntingtin interacting protein 1 0.516879
ZIC2 Zic family member 2 0.502292
APOE apolipoprotein E 0.499231
AFP alpha-fetoprotein 0.491597
CFL1 cofilin 1 (non-muscle) 0.395608
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 0.384451
OTX2 orthodenticle homeobox 2 0.38111
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 0.365932
LCAT lecithin-cholesterol acyltransferase 0.365193
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial 0.351923
FPR1 formyl peptide receptor 1 0.343106
GLI1 GLI family zinc finger 1 0.340539
FADS1 fatty acid desaturase 1 0.339806
SLC25A16 solute carrier family 25 (mitochondrial carrier), member 16 0.321545
LIG3 ligase III, DNA, ATP-dependent 0.304503
OXTR oxytocin receptor 0.30342
ANXA7 annexin A7 0.294772
CAV1 caveolin 1, caveolae protein, 22kDa 0.273308
SRY sex determining region Y 0.269753
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 0.26266
RHO rhodopsin 0.229024
POMC proopiomelanocortin 0.221108
IHH indian hedgehog 0.217693
TP63 tumor protein p63 0.214636
INHA inhibin, alpha 0.213621
NOX1 NADPH oxidase 1 0.203275
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 0.193285
FGF19 fibroblast growth factor 19 0.181222
FOXL2 forkhead box L2 0.175146
ARSH arylsulfatase family, member H 0.167224
LRP2 low density lipoprotein receptor-related protein 2 0.166095