IGSF1, immunoglobulin superfamily member 1, 3547

N. diseases: 66; N. variants: 8
Disease: Secondary hypothyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		0.020 GeneticVariation disease BEFREE Mutations of IGSF1 should therefore be considered in males with isolated hypopituitarism that includes TSH deficiency. 27146357 2016
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		0.020 GeneticVariation disease BEFREE Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1. 26302767 2015