TNNI2, troponin I2, fast skeletal type, 7136

N. diseases: 64; N. variants: 4
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 		0.540 GeneticVariation disease BEFREE A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. 26374086 2016
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 		0.540 Biomarker disease MGD A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice. 25340332 2014
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 		0.540 GermlineCausalMutation disease ORPHANET Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. 23401156 2013
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 		0.540 Biomarker disease BEFREE Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700). 23850728 2013
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 		0.540 GeneticVariation disease BEFREE The TNNT3 R63H recurrent mutation identified in two unrelated individuals may be associated with either DA1 or DA2B. 19142688 2009
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 		0.540 Biomarker disease BEFREE We recently have characterized a new disorder (DA2B) with a phenotype intermediate between DA1 and FSS. 9012416 1997