Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84665
Gene Symbol: MYPN
MYPN
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		0.330 GermlineCausalMutation ORPHANET We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. 28220527

2017
Entrez Id: 84665
Gene Symbol: MYPN
MYPN
CUI: C0546125
Disease: Nemaline Myopathy, Childhood Onset
Nemaline Myopathy, Childhood Onset 		0.300 GermlineCausalMutation ORPHANET Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. 28017374

2017
Entrez Id: 84665
Gene Symbol: MYPN
MYPN
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy. 22892539

2013
Entrez Id: 84665
Gene Symbol: MYPN
MYPN
CUI: C0348616
Disease: Other restrictive cardiomyopathy
Other restrictive cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. 22286171

2012
Entrez Id: 84665
Gene Symbol: MYPN
MYPN
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. 18006477

2008