distal arthrogryposis Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A muscle tissue disease characterized by congenital joint contractures of hand and feet. (Human Disease Ontology, DOID_0050646)
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Genes

79 genes co-occuring with the disease distal arthrogryposis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
TNNI2 troponin I type 2 (skeletal, fast) 2.73926
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic 2.68381
TNNT3 troponin T type 3 (skeletal, fast) 2.62213
TPM2 tropomyosin 2 (beta) 2.47684
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal 2.36079
ECEL1 endothelin converting enzyme-like 1 2.05495
TNNC2 troponin C type 2 (fast) 1.72867
TMEM106C transmembrane protein 106C 1.72228
PFDN4 prefoldin subunit 4 1.68816
OR1J2 olfactory receptor, family 1, subfamily J, member 2 1.68589
MYBPC1 myosin binding protein C, slow type 1.67774
C12ORF4 chromosome 12 open reading frame 4 1.57868
MYH2 myosin, heavy chain 2, skeletal muscle, adult 1.52116
ZC4H2 zinc finger, C4H2 domain containing 1.44298
TPM1 tropomyosin 1 (alpha) 1.38254
CHRNG cholinergic receptor, nicotinic, gamma (muscle) 1.31974
OR1E1 olfactory receptor, family 1, subfamily E, member 1 1.30576
FBN2 fibrillin 2 1.24124
CPNE8 copine VIII 1.2395
ZNF346 zinc finger protein 346 1.23473
CFL2 cofilin 2 (muscle) 1.23212
TUBA8 tubulin, alpha 8 1.20613
VPS33B vacuolar protein sorting 33 homolog B (yeast) 1.18023
TPM3 tropomyosin 3 1.149
MYBPC2 myosin binding protein C, fast type 1.07194
GDF11 growth differentiation factor 11 1.05681
TNNI1 troponin I type 1 (skeletal, slow) 1.00837
TNNT1 troponin T type 1 (skeletal, slow) 0.97254
RAPSN receptor-associated protein of the synapse 0.953273
MYBPC3 myosin binding protein C, cardiac 0.936629
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 0.928346
DDX11L8 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 8 0.890898
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 0.890898
PRICKLE1 prickle homolog 1 (Drosophila) 0.88516
NEB nebulin 0.858543
CNTNAP1 contactin associated protein 1 0.855268
MYH1 myosin, heavy chain 1, skeletal muscle, adult 0.854449
HOXC8 homeobox C8 0.834378
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila) 0.793361
CHN1 chimerin 1 0.791721
USP18 ubiquitin specific peptidase 18 0.724502
PHOX2A paired-like homeobox 2a 0.702732
ADCY6 adenylate cyclase 6 0.662784
ACTA1 actin, alpha 1, skeletal muscle 0.654463
FKTN fukutin 0.638676
HIF3A hypoxia inducible factor 3, alpha subunit 0.638676
FABP5 fatty acid binding protein 5 (psoriasis-associated) 0.62728
FLAD1 flavin adenine dinucleotide synthetase 1 0.566443
KIF21A kinesin family member 21A 0.562169
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 0.52343
TNNT2 troponin T type 2 (cardiac) 0.521117
EED embryonic ectoderm development 0.521117
MUSK muscle, skeletal, receptor tyrosine kinase 0.510344
SYNE1 spectrin repeat containing, nuclear envelope 1 0.499614
HOXA1 homeobox A1 0.488169
NR4A1 nuclear receptor subfamily 4, group A, member 1 0.483604
HEY1 hes-related family bHLH transcription factor with YRPW motif 1 0.461261
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1 0.454093
NAIP NLR family, apoptosis inhibitory protein 0.412031
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) 0.409414
LGI1 leucine-rich, glioma inactivated 1 0.397843
SALL4 spalt-like transcription factor 4 0.394491
IGHV3-9 immunoglobulin heavy variable 3-9 0.373698
NCOA1 nuclear receptor coactivator 1 0.352659
APRT adenine phosphoribosyltransferase 0.351187
FABP4 fatty acid binding protein 4, adipocyte 0.295851
SOX10 SRY (sex determining region Y)-box 10 0.290103
SCN8A sodium channel, voltage gated, type VIII alpha subunit 0.287952
RNASE2 ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) 0.267622
TGFB3 transforming growth factor, beta 3 0.242595
MUC6 mucin 6, oligomeric mucus/gel-forming 0.237357
SLC5A8 solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 0.227642
COL2A1 collagen, type II, alpha 1 0.226952
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 0.226607
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha 0.210925
LAMA2 laminin, alpha 2 0.188938
PHB2 prohibitin 2 0.175679
EDNRB endothelin receptor type B 0.172799
FBN1 fibrillin 1 0.167224