TNNI2, troponin I2, fast skeletal type, 7136

N. diseases: 64; N. variants: 4
Disease: Oculomelic amyoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		0.200 Biomarker disease MGD A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice. 25340332 2014