DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: Breast Cancer, Familial ×

Gene: MCPH1 ×

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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:	79648
Gene Symbol:	MCPH1

MCPH1

microcephalin 1

0.540

0.846

7.8E-30

CUI:	C0346153
Disease:	Breast Cancer, Familial

Breast Cancer, Familial

disease

0.310

limited

1.000

0

2005

2016