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: 2010
Gene Symbol: EMD
EMD 		emerin 0.542 0.731 0.93
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		disease 0.800 None 1.000 11 20 1994 2019
Entrez Id: 2010
Gene Symbol: EMD
EMD 		emerin 0.542 0.731 0.93
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.500 None 0.909 0 1 1998 2019
Entrez Id: 2010
Gene Symbol: EMD
EMD 		emerin 0.542 0.731 0.93
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.130 None 1.000 0 1 2008 2019
Entrez Id: 2010
Gene Symbol: EMD
EMD 		emerin 0.542 0.731 0.93
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group 0.120 None 1.000 10 3 1975 2007
Entrez Id: 2010
Gene Symbol: EMD
EMD 		emerin 0.542 0.731 0.93
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		disease 0.100 None 1.000 2 2 1995 1999
Entrez Id: 2010
Gene Symbol: EMD
EMD 		emerin 0.542 0.731 0.93
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 1.000 1 1 1999 1999
Entrez Id: 2010
Gene Symbol: EMD
EMD 		emerin 0.542 0.731 0.93
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease 0.100 None 0 1
Entrez Id: 2010
Gene Symbol: EMD
EMD 		emerin 0.542 0.731 0.93
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease 0.100 None 0 1