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: 3908
Gene Symbol: LAMA2
LAMA2
laminin subunit alpha 2 0.553 0.692 2.4E-47
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.500 None 1.000 0 1 1998 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.500 None 0.969 0 4 1988 2020
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
anoctamin 5 0.619 0.538 2.9E-22
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.400 None 0.944 1 1 2010 2019
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
calpain 3 0.564 0.615 3.6E-19
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.400 None 1.000 0 4 1997 2019
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.400 None 1.000 0 1 2003 2018
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
sarcoglycan alpha 0.592 0.654 2.7E-03
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.400 None 1.000 0 1 1993 2011
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
dysferlin 0.582 0.692 3.7E-33
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.400 None 0.962 0 5 1996 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.360 None 1.000 0 3 1994 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.200 None 1.000 0 14 2000 2020
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.140 None 1.000 8 2 2013 2019
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.140 None 1.000 0 1 2002 2008
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.140 None 1.000 0 3 2008 2010
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
spectrin repeat containing nuclear envelope protein 1 0.511 0.846 3.2E-52
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.110 None 1.000 0 1 2007 2007
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
transportin 3 0.663 0.577 1.8E-06
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.110 None 1.000 0 1 2013 2013
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
heat shock protein family B (small) member 8 0.570 0.577 4.3E-02
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.100 None 1.000 3 1 2016 2018
Entrez Id: 79912
Gene Symbol: PYROXD1
PYROXD1
pyridine nucleotide-disulphide oxidoreductase domain 1 0.769 0.269 6.3E-09
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.100 None 0 1
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
docking protein 7 0.615 0.615 1.0E-04
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.100 None 0 2
Entrez Id: 55183
Gene Symbol: RIF1
RIF1
replication timing regulatory factor 1 0.700 0.462 1.00
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.100 None 0 1
Entrez Id: 4703
Gene Symbol: NEB
NEB
nebulin 0.608 0.692 4.6E-41
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.100 None 0 1
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
TTN antisense RNA 1 0.599 0.577
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.100 None 0 2