IGSF1, immunoglobulin superfamily member 1, 3547

N. diseases: 66; N. variants: 8
Disease: Myxedema, Congenital ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1578691
Disease: Myxedema, Congenital
Myxedema, Congenital 		0.300 Biomarker disease CTD_human Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. 23143598 2012