abnormality of sharpey fibers Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. (Human Phenotype Ontology, HP_0100685)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100685
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Genes

28 genes associated with the abnormality of sharpey fibers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ALPL alkaline phosphatase, liver/bone/kidney
ANKH ANKH inorganic pyrophosphate transport regulator
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
CAV1 caveolin 1, caveolae protein, 22kDa
CCR6 chemokine (C-C motif) receptor 6
CTGF connective tissue growth factor
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FGF23 fibroblast growth factor 23
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
HGD homogentisate 1,2-dioxygenase
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
IRF5 interferon regulatory factor 5
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KIAA0319L KIAA0319-like
LBR lamin B receptor
MGP matrix Gla protein
NOTCH3 notch 3
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PHEX phosphate regulating endopeptidase homolog, X-linked
PTPN11 protein tyrosine phosphatase, non-receptor type 11
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
WRN Werner syndrome, RecQ helicase-like
ZMPSTE24 zinc metallopeptidase STE24