Source: HPO

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: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.130 None 1.000 0 0 2005 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.130 None 1.000 0 0 2007 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.130 None 1.000 0 0 2000 2020
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		disease 0.130 None 1.000 0 0 2006 2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		disease 0.120 None 1.000 0 0 1998 2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		disease 0.120 None 1.000 0 0 2008 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease 0.120 None 1.000 0 0 2013 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.120 None 1.000 0 0 2016 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease 0.120 None 1.000 0 0 2009 2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype 0.120 None 1.000 0 0 2000 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease 0.120 None 0.500 0 0 2000 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0021359
Disease: Infertility
Infertility 		phenotype 0.110 None 1.000 0 0 2008 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype 0.110 None 1.000 0 0 2001 2001
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		disease 0.110 None 1.000 0 0 2001 2001
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0013537
Disease: Eclampsia
Eclampsia 		disease 0.110 None 1.000 0 0 2008 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		disease 0.110 None 1.000 0 0 2009 2009