abnormal pelvic girdle bone morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the bones of the pelvis by which the limbs attach to the axial skeleton (Mammalian Phenotype Ontology, MP_0004509)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004509
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Genes

51 gene mutations causing the abnormal pelvic girdle bone morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AKAP9 A kinase (PRKA) anchor protein 9
ALX4 ALX homeobox 4
ARPC2 actin related protein 2/3 complex, subunit 2, 34kDa
ARSB arylsulfatase B
BMPER BMP binding endothelial regulator
C1ORF112 chromosome 1 open reading frame 112
CENPJ centromere protein J
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
COL10A1 collagen, type X, alpha 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CREB3L1 cAMP responsive element binding protein 3-like 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FBN1 fibrillin 1
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFRL1 fibroblast growth factor receptor-like 1
FIGN fidgetin
GLI3 GLI family zinc finger 3
HDAC2 histone deacetylase 2
HOXC10 homeobox C10
HOXD11 homeobox D11
HSPG2 heparan sulfate proteoglycan 2
ITGB1BP1 integrin beta 1 binding protein 1
LMX1B LIM homeobox transcription factor 1, beta
MYO7A myosin VIIA
MYSM1 Myb-like, SWIRM and MPN domains 1
NPR2 natriuretic peptide receptor 2
PAPPA2 pappalysin 2
PBX1 pre-B-cell leukemia homeobox 1
PCSK5 proprotein convertase subtilisin/kexin type 5
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PHEX phosphate regulating endopeptidase homolog, X-linked
PITX1 paired-like homeodomain 1
RLN1 relaxin 1
RUNX2 runt-related transcription factor 2
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SH3PXD2B SH3 and PX domains 2B
SIK3 SIK family kinase 3
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOX9 SRY (sex determining region Y)-box 9
T T, brachyury homolog (mouse)
TBX3 T-box 3
TBX4 T-box 4
TCF4 transcription factor 4
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TP63 tumor protein p63