Coffin-Lowry Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_3783)
External Link https://www.disgenet.org/browser/0/1/0/C0265252
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Genes

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

Symbol Name
AFF2 AF4/FMR2 family, member 2
ARX aristaless related homeobox
C17ORF97 chromosome 17 open reading frame 97
COL2A1 collagen, type II, alpha 1
CREB1 cAMP responsive element binding protein 1
CRLS1 cardiolipin synthase 1
DLG3 discs, large homolog 3 (Drosophila)
DMD dystrophin
EDNRB endothelin receptor type B
HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6
HSF1 heat shock transcription factor 1
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
KRT20 keratin 20, type I
LRP4 low density lipoprotein receptor-related protein 4
MAPKAP1 mitogen-activated protein kinase associated protein 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MUC6 mucin 6, oligomeric mucus/gel-forming
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PQBP1 polyglutamine binding protein 1
RPS6 ribosomal protein S6
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
WRN Werner syndrome, RecQ helicase-like