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FLASH GENE

Symbol

PTH

contributors: mct/npt/pgu - updated : 21-12-2017

HGNC name	parathyroid hormone
HGNC id	9606

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PTH

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in coronary artery diseases, and there is a correlation between high PTH level with hypertension and low ejection fraction constitutional     --low   in patients with T2DM that have decreased PTH levels (22337915)

Susceptibility

to hypocalcemia (modifier of CASR) to modification of serum 25(OH)-vitamin D level

Variant & Polymorphism SNP	significant association between specific PTH gene promoter region variants and altered levels of 25(OH)D and vitamin D deficiency

Candidate gene
Marker	usefulness of PTH is a predictor of heart failure with preserved ejection fraction
Therapy target

ANIMAL & CELL MODELS