Geroderma Osteodysplastica Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit. (Orphanet Rare Disease Ontology, Orphanet_2078)
External Link https://www.disgenet.org/browser/0/1/0/C0432255
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Genes

4 genes associated with the disease Geroderma Osteodysplastica in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
B3GAT3 beta-1,3-glucuronyltransferase 3
GORAB golgin, RAB6-interacting
PYCR1 pyrroline-5-carboxylate reductase 1