arterial tortuosity syndrome Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. (Human Disease Ontology, DOID_0050645)
Similar Terms
Downloads & Tools


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

Symbol Name Standardized Value
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10 3.20823
COL5A3 collagen, type V, alpha 3 1.65385
COL5A2 collagen, type V, alpha 2 1.04714
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2 1.03325
ELN elastin 0.954525
COL5A1 collagen, type V, alpha 1 0.93207
TNXB tenascin XB 0.892948
TGFBR1 transforming growth factor, beta receptor 1 0.890488
ACTA2 actin, alpha 2, smooth muscle, aorta 0.886389
TNXA tenascin XA (pseudogene) 0.88516
FBLN5 fibulin 5 0.883111
COL6A2 collagen, type VI, alpha 2 0.850354
KCNB1 potassium channel, voltage gated Shab related subfamily B, member 1 0.691896
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 0.673518
COL3A1 collagen, type III, alpha 1 0.668345
MYLK myosin light chain kinase 0.625319
COL6A1 collagen, type VI, alpha 1 0.524974
MYH11 myosin, heavy chain 11, smooth muscle 0.517649
SMAD7 SMAD family member 7 0.517265
COL2A1 collagen, type II, alpha 1 0.500379
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 0.411283
TGFB1 transforming growth factor, beta 1 0.406798
COL1A1 collagen, type I, alpha 1 0.406798
COL1A2 collagen, type I, alpha 2 0.349717
PTGIS prostaglandin I2 (prostacyclin) synthase 0.18472