TPM2, tropomyosin 2, 7169

N. diseases: 228; N. variants: 14
Disease: Arthrogryposis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.440 GeneticVariation disease BEFREE A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features. 27726070 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.440 Biomarker disease GENOMICS_ENGLAND Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. 23413262 2013
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.440 GeneticVariation disease BEFREE We describe muscle involvement using Whole-Body muscle Magnetic Resonance Imaging (WBMRI) in 8 individuals with genetically proven TPM2 mutations and different clinical and histological features (nemaline myopathy, 'cap disease', Bethlem-like phenotype, arthrogryposis). 22980765 2012
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.440 GeneticVariation disease LHGDN Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. 17339586 2007
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.440 GeneticVariation disease BEFREE We excluded two known arthrogryposis loci on chromosome 9p13 (TPM2) and 11p15 (TNNI2, TNNT3). 15704180 2005
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.440 Biomarker disease HPO