Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Ocular albinism with congenital sensorineural deafness
0.300 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. 27889061 2016