DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: JOUBERT SYNDROME 28 ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	54903
Gene Symbol:	MKS1

MKS1

CUI:	C4310705
Disease:	JOUBERT SYNDROME 28

JOUBERT SYNDROME 28

0.400

Biomarker

GENOMICS_ENGLAND

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

16415886

2006

Entrez Id:	54903
Gene Symbol:	MKS1

MKS1

CUI:	C4310705
Disease:	JOUBERT SYNDROME 28

JOUBERT SYNDROME 28

0.400

Biomarker

GENOMICS_ENGLAND

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

16415886

2006

Entrez Id:	54903
Gene Symbol:	MKS1

MKS1

CUI:	C4310705
Disease:	JOUBERT SYNDROME 28

JOUBERT SYNDROME 28

0.400

Biomarker

GENOMICS_ENGLAND

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

16415886

2006

Entrez Id:	54903
Gene Symbol:	MKS1

MKS1

CUI:	C4310705
Disease:	JOUBERT SYNDROME 28

JOUBERT SYNDROME 28

0.400

Biomarker

GENOMICS_ENGLAND

The effect of superinfection by T4r+ coliphage on the deoxyribonucleeases of induced Escherichia coli Y10.

4886560

1969