DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Familial aplasia of the vermis ×

Gene: MKS1 ×

Results per page

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:	54903
Gene Symbol:	MKS1

MKS1

MKS transition zone complex subunit 1

0.505

0.769

3.4E-16

CUI:	C0431399
Disease:	Familial aplasia of the vermis

Familial aplasia of the vermis

disease

0.660

None

1.000

0

2006

2017