abnormal parathyroid gland morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of one of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism (Mammalian Phenotype Ontology, MP_0000678)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000678
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19 gene mutations causing the abnormal parathyroid gland morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
CASR calcium-sensing receptor
CHRD chordin
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
ECE1 endothelin converting enzyme 1
EYA1 EYA transcriptional coactivator and phosphatase 1
GCM2 glial cells missing homolog 2 (Drosophila)
HOXA1 homeobox A1
HOXA3 homeobox A3
MEN1 multiple endocrine neoplasia I
PAX9 paired box 9
PHC1 polyhomeotic homolog 1 (Drosophila)
PTH parathyroid hormone
PTHLH parathyroid hormone-like hormone
RIPPLY3 ripply transcriptional repressor 3
TBX1 T-box 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A