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: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.406 0.724 1.00
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
disease 0.800 1.000 65 70 1991 2017
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
spectrin repeat containing nuclear envelope protein 2 0.676 0.414 2.9E-23
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
disease 0.500 0 0
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
spectrin repeat containing nuclear envelope protein 1 0.594 0.621 9.1E-50
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
disease 0.500 0 0
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
transmembrane protein 43 0.690 0.276 1.3E-12
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
disease 0.500 0 0
Entrez Id: 2010
Gene Symbol: EMD
EMD
emerin 0.614 0.552 0.93
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
disease 0.310 1.000 1 0 2002 2002
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
collagen type VI alpha 3 chain 0.611 0.690 9.2E-20
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
disease 0.010 1.000 1 0 2010 2010
Entrez Id: 1674
Gene Symbol: DES
DES
desmin 0.503 0.759 7.7E-03
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
disease 0.010 1.000 1 0 2007 2007
Entrez Id: 4673
Gene Symbol: NAP1L1
NAP1L1
nucleosome assembly protein 1 like 1 0.707 0.483 1.00
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
disease 0.010 1.000 1 0 2006 2006