asphyxiating thoracic dystrophy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_0050592)
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Genes

39 genes co-occuring with the disease asphyxiating thoracic dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
IFT80 intraflagellar transport 80 2.7623
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 2.24736
IFT140 intraflagellar transport 140 2.12566
WDR19 WD repeat domain 19 1.8862
ARL13B ADP-ribosylation factor-like 13B 1.84954
TTC21B tetratricopeptide repeat domain 21B 1.77451
WDR34 WD repeat domain 34 1.75233
WDR35 WD repeat domain 35 1.62963
WDR60 WD repeat domain 60 1.54716
CSPP1 centrosome and spindle pole associated protein 1 1.53921
DXO decapping exoribonuclease 1.53172
EVC Ellis van Creveld protein 1.49921
POC1B POC1 centriolar protein B 1.46715
IFT172 intraflagellar transport 172 1.44869
INVS inversin 1.21305
NEK1 NIMA-related kinase 1 1.20223
GLI2 GLI family zinc finger 2 1.16692
CC2D2A coiled-coil and C2 domain containing 2A 1.10678
NPHP1 nephronophthisis 1 (juvenile) 1.09251
TTC8 tetratricopeptide repeat domain 8 1.04672
TMEM67 transmembrane protein 67 1.01638
EVC2 Ellis van Creveld syndrome 2 0.984321
DYNLL1 dynein, light chain, LC8-type 1 0.941196
OFD1 oral-facial-digital syndrome 1 0.915139
RPGRIP1L RPGRIP1-like 0.863865
AHI1 Abelson helper integration site 1 0.826589
FOXM1 forkhead box M1 0.789262
FMN1 formin 1 0.784755
BBS4 Bardet-Biedl syndrome 4 0.767985
SBDS Shwachman-Bodian-Diamond syndrome 0.714005
CEP290 centrosomal protein 290kDa 0.701928
IFT122 intraflagellar transport 122 0.656046
HNF1B HNF1 homeobox B 0.461261
NOTCH1 notch 1 0.353763
GLI1 GLI family zinc finger 1 0.334681
FLNA filamin A, alpha 0.325552
ACAN aggrecan 0.31464
ADCY2 adenylate cyclase 2 (brain) 0.242945
SHH sonic hedgehog 0.237009