Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C4750999
Disease: Ocular albinism with congenital sensorineural deafness
Ocular albinism with congenital sensorineural deafness 		0.300 Biomarker GENOMICS_ENGLAND Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. 27889061

2016