Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		tropomyosin 3 0.490 0.808 6.7E-03
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		disease 0.740 strong 1.000 17 10 2002 2017
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		tropomyosin 3 0.490 0.808 6.7E-03
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		disease 0.700 None 1.000 19 9 1995 2017
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		tropomyosin 3 0.490 0.808 6.7E-03
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		disease 0.500 None 0.947 0 1 1999 2013
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		tropomyosin 3 0.490 0.808 6.7E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.150 None 1.000 0 1 2011 2017
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		tropomyosin 3 0.490 0.808 6.7E-03
CUI: C3714994
Disease: CAP MYOPATHY 1
CAP MYOPATHY 1 		disease 0.100 None 0 2