stickler 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_0080046)
Similar Terms
Downloads & Tools

Genes

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

Symbol Name Standardized Value
COL2A1 collagen, type II, alpha 1 2.86216
COL11A1 collagen, type XI, alpha 1 2.60632
COL11A2 collagen, type XI, alpha 2 2.52547
COL11A2P1 collagen, type XI, alpha 2 pseudogene 1 2.50017
COL9A1 collagen, type IX, alpha 1 1.79435
COL9A2 collagen, type IX, alpha 2 1.43947
HMX3 H6 family homeobox 3 1.27955
COL9A3 collagen, type IX, alpha 3 1.0324
VCAN versican 0.887208
PRG2 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) 0.873281
FZD4 frizzled class receptor 4 0.735838
PRPF3 pre-mRNA processing factor 3 0.644192
PRPF8 pre-mRNA processing factor 8 0.639857
TECTA tectorin alpha 0.638282
CNTN1 contactin 1 0.622575
HAPLN1 hyaluronan and proteoglycan link protein 1 0.587444
COL5A2 collagen, type V, alpha 2 0.581217
OFD1 oral-facial-digital syndrome 1 0.562169
AADACL3 arylacetamide deacetylase-like 3 0.528835
TACSTD2 tumor-associated calcium signal transducer 2 0.521502
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 0.519961
PRPF31 pre-mRNA processing factor 31 0.456732
CLPS colipase, pancreatic 0.430768
NRCAM neuronal cell adhesion molecule 0.403064
NR2E3 nuclear receptor subfamily 2, group E, member 3 0.378885
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13 0.342372
TBX1 T-box 1 0.305226
NDP Norrie disease (pseudoglioma) 0.291539
CNTN2 contactin 2 (axonal) 0.275801
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.235268
RPGR retinitis pigmentosa GTPase regulator 0.232836
FBN2 fibrillin 2 0.221793
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 0.212608
BEST1 bestrophin 1 0.187113
LRP2 low density lipoprotein receptor-related protein 2 0.182666