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: 23345
Gene Symbol: SYNE1
SYNE1
spectrin repeat containing nuclear envelope protein 1 0.511 0.846 3.2E-52
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.770 limited 1.000 7 1 2007 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.700 None 0.963 81 16 2000 2019
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
spectrin repeat containing nuclear envelope protein 2 0.623 0.692 1.7E-25
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.540 limited 1.000 4 0 2007 2018
Entrez Id: 2010
Gene Symbol: EMD
EMD
emerin 0.542 0.731 0.93
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.400 None 0.950 80 1 1991 2019
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
four and a half LIM domains 1 0.532 0.731 0.97
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.400 strong 0.900 10 0 2009 2016
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
transmembrane protein 43 0.653 0.462 1.2E-12
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.320 None 1.000 2 0 2011 2014
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.200 None 0 0
Entrez Id: 2656
Gene Symbol: GCY
GCY
growth control, Y chromosome influenced 0.631 0.615
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.080 None 0.875 8 0 1996 2012
Entrez Id: 1351
Gene Symbol: COX8A
COX8A
cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.040 None 1.000 4 0 1986 1992
Entrez Id: 4008
Gene Symbol: LMO7
LMO7
LIM domain 7 0.722 0.500 2.5E-04
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.030 None 1.000 3 0 2015 2018
Entrez Id: 728458
Gene Symbol: OPN1MW2
OPN1MW2
opsin 1, medium wave sensitive 2 0.601 0.769 0.24
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.020 None 1.000 2 0 1991 1992
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
opsin 1, medium wave sensitive 0.572 0.769 3.8E-02
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.020 None 1.000 2 0 1991 1992
Entrez Id: 101060233
Gene Symbol: OPN1MW3
OPN1MW3
opsin 1, medium wave sensitive 3 0.601 0.769
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.020 None 1.000 2 0 1991 1992
Entrez Id: 199953
Gene Symbol: TMEM201
TMEM201
transmembrane protein 201 0.729 0.346 0.99
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.020 None 1.000 2 0 2017 2018
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.010 None 1.000 1 0 1993 1993
Entrez Id: 57520
Gene Symbol: HECW2
HECW2
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 0.705 0.423 1.00
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 6720
Gene Symbol: SREBF1
SREBF1
sterol regulatory element binding transcription factor 1 0.518 0.808 1.5E-02
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
transforming growth factor beta 2 0.433 0.885 1.00
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7076
Gene Symbol: TIMP1
TIMP1
TIMP metallopeptidase inhibitor 1 0.380 0.885 0.50
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
TIMP metallopeptidase inhibitor 2 0.425 0.846 0.79
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 7078
Gene Symbol: TIMP3
TIMP3
TIMP metallopeptidase inhibitor 3 0.445 0.923 0.63
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 6768
Gene Symbol: ST14
ST14
suppression of tumorigenicity 14 0.514 0.769 0.56
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.010 None 1.000 1 0 1987 1987
Entrez Id: 163747
Gene Symbol: LEXM
LEXM
lymphocyte expansion molecule 0.821 0.269 2.1E-13
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
calpain 3 0.564 0.615 3.6E-19
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease 0.010 None 1.000 1 0 2010 2010