SLC20A1, solute carrier family 20 member 1, 6574

N. diseases: 87; N. variants: 1
Disease: Hypopituitarism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		0.030 AlteredExpression disease BEFREE Mutations in the transcription factors PIT1 (pituitary transcription factor 1) and PROP1 (prophet of Pit1) lead to pituitary hormone deficiency and hypopituitarism in mice and humans. 16556738 2006
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		0.030 Biomarker disease BEFREE Two pituitary specific transcription factors, Pit-1 and Prop-1, which are required for generation of hormone producing cells in the anterior pituitary gland, have proved to be important in the cause of hypopituitarism in humans. 12717343 2003
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		0.030 GeneticVariation disease BEFREE Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. 1509263 1992