Disease-gene associations mined from literature

Literature associating EGFLAM and congenital muscular dystrophy-dystroglycanopathy type A

EGFLAM [ENSP00000346964]

EGF-like, fibronectin type-III and laminin G-like domain-containing protein; Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness (By similarity); Fibronectin type III domain containing

Synonyms:  EGFLAM,  D6RG24,  D6RJD2,  Q63HQ2,  AGRINL ...

Linkouts:  STRING  Pharos  UniProt