PROP1, PROP paired-like homeobox 1, 5626

N. diseases: 117; N. variants: 30
Disease: Adrenal gland hypofunction ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.110 GeneticVariation phenotype LHGDN It is concluded that anterior pituitary function in patients with PROP1 mutations deteriorates progressively and includes adrenal insufficiency as a feature of this condition, which has important clinical relevance in childhood and adolescence. 15472232 2004
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.110 GeneticVariation phenotype BEFREE It is concluded that anterior pituitary function in patients with PROP1 mutations deteriorates progressively and includes adrenal insufficiency as a feature of this condition, which has important clinical relevance in childhood and adolescence. 15472232 2004
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.110 Biomarker phenotype HPO