| Monarch Ortholog Phenotypes
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Human (30 sources):
Abdominal symptom,
Abnormality of the neck,
Cataract,
Cerebral calcification,
Chondrocalcinosis,
Congenital hypoparathyroidism,
Decreased circulating parathyroid hormone level,
Elevated circulating parathyroid hormone level,
Generalized osteoporosis,
Hypercalcemia,
Hypercalciuria,
Hyperphosphatemia,
Hyperphosphaturia,
Hypocalcemia,
Hypocalcemic seizures,
Hypomagnesemia,
Hypoparathyroidism,
Hypophosphatemia,
Infantile hypercalcemia,
Male infertility,
Nephrocalcinosis,
Nephrolithiasis,
Osteopenia,
Parathyroid adenoma,
Parathyroid agenesis,
Parathyroid carcinoma,
Primary hyperparathyroidism,
Renal insufficiency,
Seizure,
Tetany
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Mouse (13 sources):
abnormal DNA methylation,
abnormal neuron differentiation,
abnormal parathyroid gland development,
abnormal third pharyngeal arch morphology,
absent parathyroid glands,
decreased brain size,
decreased circulating parathyroid hormone level,
embryonic lethality during organogenesis, incomplete penetrance,
incomplete rostral neuropore closure,
increased bone mass,
[+]
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View all ortholog results at Monarch
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.