TNNI2, troponin I2, fast skeletal type, 7136

N. diseases: 64; N. variants: 4
Disease: Arthrogryposis-like hand anomaly and sensorineural deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862471
Disease: Arthrogryposis-like hand anomaly and sensorineural deafness
Arthrogryposis-like hand anomaly and sensorineural deafness 		0.200 Biomarker phenotype MGD A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice. 25340332 2014