absent parathyroid glands Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description missing the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland, which secrete parathyroid hormone (PTH) (Mammalian Phenotype Ontology, MP_0000680)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000680
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Genes

9 gene mutations causing the absent parathyroid glands phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
CHRD chordin
EYA1 EYA transcriptional coactivator and phosphatase 1
GCM2 glial cells missing homolog 2 (Drosophila)
HOXA1 homeobox A1
HOXA3 homeobox A3
PAX9 paired box 9
TBX1 T-box 1
VEGFA vascular endothelial growth factor A