IGSF3, immunoglobulin superfamily member 3, 3321

N. diseases: 18; N. variants: 1
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 GeneticVariation group BEFREE Biochemical experiments demonstrate that, in the developing brain, IGSF3 is in a complex with the tetraspanin TSPAN7, a membrane protein mutated in several forms of X-linked intellectual disabilities. 27328461 2017