arc syndrome Gene Set

Dataset	DISEASES Text-mining Gene-Disease Association Evidence Scores
Category	disease or phenotype associations
Type	disease
Description	A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis, caused_by homozygous or compound heterozygous mutation located_in VPS33B gene. (Human Disease Ontology, DOID_0050763)
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Genes

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

Symbol	Name	Standardized Value
VPS33B	vacuolar protein sorting 33 homolog B (yeast)	3.28299
VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	2.12815
VPS18	vacuolar protein sorting 18 homolog (S. cerevisiae)	2.02703
VPS33A	vacuolar protein sorting 33 homolog A (S. cerevisiae)	1.98715
VPS39	vacuolar protein sorting 39 homolog (S. cerevisiae)	1.7159
NSF	N-ethylmaleimide-sensitive factor	1.05597
ATP8B1	ATPase, aminophospholipid transporter, class I, type 8B, member 1	0.940364
AVPR2	arginine vasopressin receptor 2	0.703536
ABCB11	ATP-binding cassette, sub-family B (MDR/TAP), member 11	0.669936
HNF1B	HNF1 homeobox B	0.638676
NF2	neurofibromin 2 (merlin)	0.374438
GGT1	gamma-glutamyltransferase 1	0.208914