GPSM2, G protein signaling modulator 2, 29899

N. diseases: 38; N. variants: 8
Disease: Congenital sensorineural hearing loss ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		0.010 GeneticVariation disease BEFREE Mutations in the G Protein Signaling Modulator 2 (GPSM2) cause the autosomal recessive disorder Chudley-McCullough syndrome (CMS), which is characterized by profound congenital sensorineural hearing loss with various abnormalities in the brain. 27180139 2016