DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Left Ventricular Hypertrophy ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

myosin heavy chain 7

0.516

0.692

4.2E-16

CUI:	C0149721
Disease:	Left Ventricular Hypertrophy

Left Ventricular Hypertrophy

disease

0.330

None

1.000

1987

2016

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

myosin binding protein C3

0.593

0.385

8.0E-11

CUI:	C0149721
Disease:	Left Ventricular Hypertrophy

Left Ventricular Hypertrophy

disease

0.150

None

1.000

2002

2019

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

mitogen-activated protein kinase kinase 1

0.439

0.846

0.90

CUI:	C0149721
Disease:	Left Ventricular Hypertrophy

Left Ventricular Hypertrophy

disease

0.100

None

1.000

2008

2008

Entrez Id:	10529
Gene Symbol:	NEBL

NEBL

nebulette

0.650

0.692

1.8E-36

CUI:	C0149721
Disease:	Left Ventricular Hypertrophy

Left Ventricular Hypertrophy

disease

0.100

None

Entrez Id:	6016
Gene Symbol:	RIT1

RIT1

Ras like without CAAX 1

0.527

0.808

0.13

CUI:	C0149721
Disease:	Left Ventricular Hypertrophy

Left Ventricular Hypertrophy

disease

0.100

None