Thanatophoric Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. (Human Disease Ontology, DOID_13481)
External Link https://www.disgenet.org/browser/0/1/0/C1300256
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Genes

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

Symbol Name
ACHE acetylcholinesterase (Yt blood group)
APOC3 apolipoprotein C-III
BCL2 B-cell CLL/lymphoma 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DPP4 dipeptidyl-peptidase 4
FGF13 fibroblast growth factor 13
FGF2 fibroblast growth factor 2 (basic)
FGFR3 fibroblast growth factor receptor 3
HDAC6 histone deacetylase 6
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
LMAN1 lectin, mannose-binding, 1
MAPK3 mitogen-activated protein kinase 3
NPR2 natriuretic peptide receptor 2
OPA1 optic atrophy 1 (autosomal dominant)
PTH parathyroid hormone
PTRH1 peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
STAT1 signal transducer and activator of transcription 1, 91kDa