riley-day 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_11589)
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Genes

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

Symbol Name Standardized Value
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 2.87183
ELP3 elongator acetyltransferase complex subunit 3 2.05135
ACTL7B actin-like 7B 1.44782
ACTL7A actin-like 7A 1.31056
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) 1.28697
NGF nerve growth factor (beta polypeptide) 1.26342
CTNNAL1 catenin (cadherin-associated protein), alpha-like 1 1.03198
UNK unkempt family zinc finger 0.812642
SRSF3 serine/arginine-rich splicing factor 3 0.785165
TMEM245 transmembrane protein 245 0.750864
MAOA monoamine oxidase A 0.732596
STMN2 stathmin 2 0.726524
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 0.634742
DST dystonin 0.595233
MYO5A myosin VA (heavy chain 12, myoxin) 0.594843
REST RE1-silencing transcription factor 0.587444
POU4F1 POU class 4 homeobox 1 0.585887
CXCL14 chemokine (C-X-C motif) ligand 14 0.489691
NGFR nerve growth factor receptor 0.462394
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.428516
MCOLN1 mucolipin 1 0.421765
HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 0.410909
TAC1 tachykinin, precursor 1 0.385936
CALCA calcitonin-related polypeptide alpha 0.358551
ICAM3 intercellular adhesion molecule 3 0.343473
HIST2H3PS2 histone cluster 2, H3, pseudogene 2 0.343106
H3F3B H3 histone, family 3B (H3.3B) 0.336876
H3F3A H3 histone, family 3A 0.336876
HAND2 heart and neural crest derivatives expressed 2 0.319363
ACO2 aconitase 2, mitochondrial 0.319363
TUBA1A tubulin, alpha 1a 0.317182
CTSA cathepsin A 0.317182
SOX10 SRY (sex determining region Y)-box 10 0.309204
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) 0.261245
NOG noggin 0.253479
MUT methylmalonyl CoA mutase 0.251718
NTF3 neurotrophin 3 0.245046
RUNX3 runt-related transcription factor 3 0.244345
PXN paxillin 0.240847
NPS neuropeptide S 0.235268
TACR1 tachykinin receptor 1 0.228333
CA4 carbonic anhydrase IV 0.206913
PAX3 paired box 3 0.206248
TH tyrosine hydroxylase 0.194232
REN renin 0.185313
SOX9 SRY (sex determining region Y)-box 9 0.18472
NPPA natriuretic peptide A 0.170054
LCAT lecithin-cholesterol acyltransferase 0.159124