campomelic dysplasia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur. (Human Disease Ontology, DOID_0050463)
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Genes

51 genes co-occuring with the disease campomelic dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
SOX9 SRY (sex determining region Y)-box 9 3.22356
SRY sex determining region Y 2.03335
COL2A1 collagen, type II, alpha 1 1.54628
SOX8 SRY (sex determining region Y)-box 8 1.49262
COL11A2P1 collagen, type XI, alpha 2 pseudogene 1 1.28392
WWP2 WW domain containing E3 ubiquitin protein ligase 2 1.28042
COL9A2 collagen, type IX, alpha 2 1.20699
COL11A2 collagen, type XI, alpha 2 1.11267
SOX14 SRY (sex determining region Y)-box 14 1.03156
SOX5 SRY (sex determining region Y)-box 5 1.0244
SOX10 SRY (sex determining region Y)-box 10 1.02229
SOX6 SRY (sex determining region Y)-box 6 1.0206
TBX18 T-box 18 0.9696
SOX21 SRY (sex determining region Y)-box 21 0.951604
DCAF7 DDB1 and CUL4 associated factor 7 0.925039
MIA melanoma inhibitory activity 0.89582
LOC102724852 uncharacterized LOC102724852 0.890078
TBX4 T-box 4 0.812642
GATA4 GATA binding protein 4 0.760639
NR0B1 nuclear receptor subfamily 0, group B, member 1 0.748424
DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 0.728952
COL9A3 collagen, type IX, alpha 3 0.705144
COL9A1 collagen, type IX, alpha 1 0.631205
RUNX2 runt-related transcription factor 2 0.612011
ZFX zinc finger protein, X-linked 0.605372
ACAN aggrecan 0.60147
ZFY zinc finger protein, Y-linked 0.576161
ETV5 ets variant 5 0.569941
COL10A1 collagen, type X, alpha 1 0.562558
MATN1 matrilin 1, cartilage matrix protein 0.537731
SOX11 SRY (sex determining region Y)-box 11 0.497321
SOX17 SRY (sex determining region Y)-box 17 0.482464
NR5A1 nuclear receptor subfamily 5, group A, member 1 0.462772
SOX4 SRY (sex determining region Y)-box 4 0.455978
MED12 mediator complex subunit 12 0.436778
COL1A1 collagen, type I, alpha 1 0.415773
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 0.380368
TK1 thymidine kinase 1, soluble 0.352291
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 0.296211
CALM3 calmodulin 3 (phosphorylase kinase, delta) 0.27153
CALM2 calmodulin 2 (phosphorylase kinase, delta) 0.270819
MIR145 microRNA 145 0.267622
CALM1 calmodulin 1 (phosphorylase kinase, delta) 0.265494
HSD17B1P1 hydroxysteroid (17-beta) dehydrogenase 1 pseudogene 1 0.257711
FOXL2 forkhead box L2 0.233878
BCR breakpoint cluster region 0.214975
TES testin LIM domain protein 0.209248
HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 0.190786
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha 0.179239
WT1 Wilms tumor 1 0.166544
HSPA4 heat shock 70kDa protein 4 0.158605