Frontometaphyseal Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss. (Orphanet Rare Disease Ontology, Orphanet_1826)
External Link https://www.disgenet.org/browser/0/1/0/C0265293
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Genes

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

Symbol Name
ANXA13 annexin A13
CAV2 caveolin 2
CCL20 chemokine (C-C motif) ligand 20
DCTN3 dynactin 3 (p22)
FLNA filamin A, alpha
FOSL1 FOS-like antigen 1
G3BP1 GTPase activating protein (SH3 domain) binding protein 1
IFNG interferon, gamma
IL10 interleukin 10
IL2 interleukin 2
IL21 interleukin 21
IL4 interleukin 4
IL6 interleukin 6
ITGB6 integrin, beta 6
MADD MAP-kinase activating death domain
MAP3K7 mitogen-activated protein kinase kinase kinase 7
PCNT pericentrin
PPIA peptidylprolyl isomerase A (cyclophilin A)
RTN1 reticulon 1
RTN4 reticulon 4
SAT2 spermidine/spermine N1-acetyltransferase family member 2
SEA S13 erythroblastosis (avian) oncogene homolog
SLC38A2 solute carrier family 38, member 2
SPECC1 sperm antigen with calponin homology and coiled-coil domains 1
ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TACR2 tachykinin receptor 2
ZFYVE9 zinc finger, FYVE domain containing 9