Source: GENOMICS_ENGLAND

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 0.384 0.885 1.00
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
disease 1.000 None 0.989 4 0 1999 2020
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0033300
Disease: Progeria
Progeria
disease 1.000 None 0.967 2 0 2003 2020
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
disease 0.920 None 1.000 3 0 2002 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
Charcot-Marie-Tooth disease, Type 2B1
disease 0.900 None 1.000 3 0 1999 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
disease 0.800 None 1.000 5 0 1991 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
Familial Partial Lipodystrophy, Type 2
disease 0.800 None 1.000 4 0 2000 2020
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.800 None 1.000 3 0 2002 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome
disease 0.710 None 1.000 2 0 2003 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
Lethal tight skin contracture syndrome (disorder)
disease 0.700 None 1.000 3 0 2002 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C1857829
Disease: Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Slovenian type
disease 0.700 None 1.000 2 0 2008 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3
disease 0.700 strong 1.000 2 0 2010 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
group 0.700 strong 1.000 0 0 1997 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.600 limited 0.978 1 0 2000 2020
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
disease 0.520 strong 1.000 1 0 2012 2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.410 None 1.000 0 0 1990 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
disease 0.310 limited 1.000 1 0 2013 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
disease 0.300 limited 1.000 1 0 2013 2013