DisGeNET - a database of gene-disease associations

MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57

Disease: Occipital Encephalocele ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0014067
Disease:	Occipital Encephalocele

Occipital Encephalocele

0.400

Biomarker

disease

GENOMICS_ENGLAND

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

16415886

2006

CUI:	C0014067
Disease:	Occipital Encephalocele

Occipital Encephalocele

0.400

Biomarker

disease

GENOMICS_ENGLAND

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

16415886

2006

CUI:	C0014067
Disease:	Occipital Encephalocele

Occipital Encephalocele

0.400

Biomarker

disease

GENOMICS_ENGLAND

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

16415886

2006

CUI:	C0014067
Disease:	Occipital Encephalocele

Occipital Encephalocele

0.400

CausalMutation

disease

CLINVAR

CUI:	C0014067
Disease:	Occipital Encephalocele

Occipital Encephalocele

0.400

Biomarker

disease

HPO