Abnormality Of Pelvic Girdle Bone Morphology Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. (Human Phenotype Ontology, HP_0002644)
External Link https://www.disgenet.org/browser/0/1/0/C4020847
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Genes

54 genes associated with the disease Abnormality Of Pelvic Girdle Bone Morphology in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADA adenosine deaminase
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ANKH ANKH inorganic pyrophosphate transport regulator
ANTXR1 anthrax toxin receptor 1
B3GLCT beta 3-glucosyltransferase
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CEP120 centrosomal protein 120kDa
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
CTSK cathepsin K
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
EBP emopamil binding protein (sterol isomerase)
ELN elastin
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNB filamin B, beta
FRZB frizzled-related protein
GLI1 GLI family zinc finger 1
GNPAT glyceronephosphate O-acyltransferase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HHAT hedgehog acyltransferase
HSPG2 heparan sulfate proteoglycan 2
IFITM5 interferon induced transmembrane protein 5
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT80 intraflagellar transport 80
LIMK1 LIM domain kinase 1
LRP5 low density lipoprotein receptor-related protein 5
LZTR1 leucine-zipper-like transcription regulator 1
MUSK muscle, skeletal, receptor tyrosine kinase
ORC1 origin recognition complex, subunit 1
PHEX phosphate regulating endopeptidase homolog, X-linked
RFC2 replication factor C (activator 1) 2, 40kDa
ROGDI rogdi homolog (Drosophila)
SF3B4 splicing factor 3b, subunit 4, 49kDa
SOST sclerostin
TBL2 transducin (beta)-like 2
TBXAS1 thromboxane A synthase 1 (platelet)
TGFB1 transforming growth factor, beta 1
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TRIP11 thyroid hormone receptor interactor 11
TTC21B tetratricopeptide repeat domain 21B
TWIST1 twist family bHLH transcription factor 1
VCP valosin containing protein
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR60 WD repeat domain 60