IGSF1, immunoglobulin superfamily member 1, 3547

N. diseases: 66; N. variants: 8
Disease: Constitutional delay of growth and puberty ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342538
Disease: Constitutional delay of growth and puberty
Constitutional delay of growth and puberty 		0.010 GeneticVariation disease BEFREE There is insufficient evidence to conclude that the three observed VUCSs in IGSF1 are associated with CDGP, making it unlikely that IGSF1 mutations are a prevalent cause of CDGP. 25354429 2015