Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. 27889061 2016
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. 27889061 2016
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
0.700 Biomarker disease MGD Novel ENU-induced eye mutations in the mouse: models for human eye disease. 11929848 2002
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
0.700 Biomarker disease MGD Saturation mutagenesis for dominant eye morphological defects in the mouse Mus musculus. 10886015 2000
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
0.700 Biomarker disease MGD Mitfmi-enu122 is a missense mutation in the HLH dimerization domain. 9501313 1998
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
0.700 GermlineCausalMutation disease ORPHANET Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 9158138 1997
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
0.700 Biomarker disease MGD Mast cells in spotted mutant mice (W Ph mi). 6127714 1982
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
0.700 Biomarker disease MGD The relationship between abnormalities of pigmentation and of the inner ear. 4392283 1970
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
0.700 Biomarker disease MGD The eye and skeletal effects of two mutant alleles at the microphthalmia locus of Mus musculus. 4963367 1967
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND