Geleophysic Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy''). (Orphanet Rare Disease Ontology, Orphanet_2623)
External Link https://www.disgenet.org/browser/0/1/0/C3278147
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Genes

10 genes associated with the disease Geleophysic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17
ADAMTSL2 ADAMTS-like 2
ADAMTSL4 ADAMTS-like 4
EGF epidermal growth factor
FBN1 fibrillin 1
LTBP3 latent transforming growth factor beta binding protein 3
PRDX1 peroxiredoxin 1
PRRX1 paired related homeobox 1
SMAD2 SMAD family member 2
TGFB1 transforming growth factor, beta 1