abnormal ischium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis (Mammalian Phenotype Ontology, MP_0004507)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004507
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Genes

9 gene mutations causing the abnormal ischium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
COL1A1 collagen, type I, alpha 1
COMP cartilage oligomeric matrix protein
CREB3L1 cAMP responsive element binding protein 3-like 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FGFR2 fibroblast growth factor receptor 2
PITX1 paired-like homeodomain 1
RUNX2 runt-related transcription factor 2
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOX9 SRY (sex determining region Y)-box 9