Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10205
Gene Symbol: MPZL2
MPZL2
0.010 Biomarker phenotype BEFREE We propose using a combination of three parameters to define and diagnose PS: (i) sensorineural deafness with bilateral EVA; (ii) thyroid abnormality comprising goiter and/or hypothyroidism and/or a positive PDT; (iii) biallelic SLC26A4 mutations. 24224479 2014