coffin-lowry 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. [SN]. (Human Disease Ontology, DOID_3783)
Similar Terms
Downloads & Tools

Genes

70 genes co-occuring with the disease coffin-lowry syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 3.25445
RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 1.59028
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 1.44123
RIT1 Ras-like without CAAX 1 1.37425
RASA2 RAS p21 protein activator 2 1.30401
SKP1 S-phase kinase-associated protein 1 1.18023
NEK4 NIMA-related kinase 4 1.17679
MAPKAP1 mitogen-activated protein kinase associated protein 1 1.12783
RPS6KA6 ribosomal protein S6 kinase, 90kDa, polypeptide 6 1.09461
RPS6KA5 ribosomal protein S6 kinase, 90kDa, polypeptide 5 1.06732
ATF4 activating transcription factor 4 0.980952
RPS6 ribosomal protein S6 0.980531
GLRA2 glycine receptor, alpha 2 0.936629
GRIA2 glutamate receptor, ionotropic, AMPA 2 0.926279
PHKA2 phosphorylase kinase, alpha 2 (liver) 0.827409
PLD1 phospholipase D1, phosphatidylcholine-specific 0.801564
PQBP1 polyglutamine binding protein 1 0.770027
ATRX alpha thalassemia/mental retardation syndrome X-linked 0.770027
CREB1 cAMP responsive element binding protein 1 0.763086
KDM5C lysine (K)-specific demethylase 5C 0.762271
PHEX phosphate regulating endopeptidase homolog, X-linked 0.751678
MAPK11 mitogen-activated protein kinase 11 0.741923
OPHN1 oligophrenin 1 0.740705
HOXB4 homeobox B4 0.739082
POU3F4 POU class 3 homeobox 4 0.728547
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 0.718039
S100G S100 calcium binding protein G 0.710378
DLG3 discs, large homolog 3 (Drosophila) 0.690694
FOS FBJ murine osteosarcoma viral oncogene homolog 0.683892
GNMT glycine N-methyltransferase 0.664372
SHANK3 SH3 and multiple ankyrin repeat domains 3 0.650113
BAD BCL2-associated agonist of cell death 0.60303
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) 0.59991
LRPAP1 low density lipoprotein receptor-related protein associated protein 1 0.568386
GK glycerol kinase 0.495029
NDP Norrie disease (pseudoglioma) 0.483985
CHM choroideremia (Rab escort protein 1) 0.480186
KAT2B K(lysine) acetyltransferase 2B 0.461639
SRF serum response factor (c-fos serum response element-binding transcription factor) 0.460883
SP7 Sp7 transcription factor 0.449947
MAP2K1 mitogen-activated protein kinase kinase 1 0.443547
GRPR gastrin-releasing peptide receptor 0.44129
AFF2 AF4/FMR2 family, member 2 0.432646
AMELX amelogenin, X-linked 0.43227
NF1 neurofibromin 1 0.420266
KAT5 K(lysine) acetyltransferase 5 0.400826
SOX10 SRY (sex determining region Y)-box 10 0.399334
HSF1 heat shock transcription factor 1 0.393001
LAX1 lymphocyte transmembrane adaptor 1 0.372587
EDN3 endothelin 3 0.370737
RNASE2 ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) 0.343106
CREBBP CREB binding protein 0.328469
HIST2H2AC histone cluster 2, H2ac 0.313189
HIST2H2AA4 histone cluster 2, H2aa4 0.312827
HIST2H2AA3 histone cluster 2, H2aa3 0.312827
COL2A1 collagen, type II, alpha 1 0.300894
ATM ATM serine/threonine kinase 0.284013
EDNRB endothelin receptor type B 0.271174
WRN Werner syndrome, RecQ helicase-like 0.25877
SP1 Sp1 transcription factor 0.25877
MITF microphthalmia-associated transcription factor 0.237009
PAX3 paired box 3 0.229024
TAT tyrosine aminotransferase 0.223165
PTER phosphotriesterase related 0.221108
PAX6 paired box 6 0.203933
GJB2 gap junction protein, beta 2, 26kDa 0.188632
TSC2 tuberous sclerosis 2 0.169812
EGR1 early growth response 1 0.165217
H2AFX H2A histone family, member X 0.164359
RUNX2 runt-related transcription factor 2 0.159124