MPZL2, myelin protein zero like 2, 10205

N. diseases: 40; N. variants: 6
Disease: Goiter ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018021
Disease: Goiter
Goiter 		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