Thoracic Hypoplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1837482
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Genes

32 genes associated with the disease Thoracic Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
BMPER BMP binding endothelial regulator
C21ORF2 chromosome 21 open reading frame 2
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
CRMP1 collapsin response mediator protein 1
CSPP1 centrosome and spindle pole associated protein 1
DDR2 discoidin domain receptor tyrosine kinase 2
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
EVC Ellis van Creveld protein
FAM20C family with sequence similarity 20, member C
FLNB filamin B, beta
GBA glucosidase, beta, acid
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPG2 heparan sulfate proteoglycan 2
IFT172 intraflagellar transport 172
IFT43 intraflagellar transport 43
IFT81 intraflagellar transport 81
KIAA0586 KIAA0586
KIAA0753 KIAA0753
MATN3 matrilin 3
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUSK muscle, skeletal, receptor tyrosine kinase
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
SLC10A7 solute carrier family 10, member 7
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SNRPB small nuclear ribonucleoprotein polypeptides B and B1
SOX9 SRY (sex determining region Y)-box 9
TAPT1 transmembrane anterior posterior transformation 1
TRIP11 thyroid hormone receptor interactor 11
WDR19 WD repeat domain 19