PRL, prolactin, 5617

N. diseases: 506; N. variants: 3
Disease: Congenital central hypothyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4302200
Disease: Congenital central hypothyroidism
Congenital central hypothyroidism 		0.020 GeneticVariation disease BEFREE IGSF1 abnormality causes diverse symptoms, including congenital central hypothyroidism (CCH), prolactin hyposecretion, testicular enlargement and delayed puberty. 29425110 2018
CUI: C4302200
Disease: Congenital central hypothyroidism
Congenital central hypothyroidism 		0.020 Biomarker disease BEFREE Our findings provide additional genetic evidence that loss-of-function mutations in IGSF1 cause an X-linked form of C-CH and variable prolactin deficiency. 23966245 2013