TAS2R38, taste 2 receptor member 38, 5726

N. diseases: 149; N. variants: 5
Disease: Mandibuloacral dysostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.010 GeneticVariation disease BEFREE We had previously demonstrated that a complete loss of function in ZMPSTE24 was lethal in the neonatal period, whereas compound heterozygous mutations including one PTC and one missense mutation were associated with type B mandibuloacral dysplasia. 21267004 2011