abnormal parathyroid gland physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of this paired endocrine gland that normally produces parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism (Mammalian Phenotype Ontology, MP_0003431)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003431
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6 gene mutations causing the abnormal parathyroid gland physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
GC group-specific component (vitamin D binding protein)
GCM2 glial cells missing homolog 2 (Drosophila)
IL6ST interleukin 6 signal transducer
PKD1 polycystic kidney disease 1 (autosomal dominant)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
XDH xanthine dehydrogenase