DisGeNET - a database of gene-disease associations

Source: ALL

Disease: MECKEL SYNDROME, TYPE 10 ×

The Variant filter does not apply in GDA tabs

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:	80776
Gene Symbol:	B9D2

B9D2

CUI:	C3280036
Disease:	MECKEL SYNDROME, TYPE 10

MECKEL SYNDROME, TYPE 10

0.500

Biomarker

GENOMICS_ENGLAND

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

26092869

2015

Entrez Id:	80776
Gene Symbol:	B9D2

B9D2

CUI:	C3280036
Disease:	MECKEL SYNDROME, TYPE 10

MECKEL SYNDROME, TYPE 10

0.500

Biomarker

GENOMICS_ENGLAND

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

26092869

2015

Entrez Id:	80776
Gene Symbol:	B9D2

B9D2

CUI:	C3280036
Disease:	MECKEL SYNDROME, TYPE 10

MECKEL SYNDROME, TYPE 10

0.500

GeneticVariation

UNIPROT

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

26092869

2015

Entrez Id:	80776
Gene Symbol:	B9D2

B9D2

CUI:	C3280036
Disease:	MECKEL SYNDROME, TYPE 10

MECKEL SYNDROME, TYPE 10

0.500

Biomarker

GENOMICS_ENGLAND

Disruption of a ciliary B9 protein complex causes Meckel syndrome.

21763481

2011

Entrez Id:	80776
Gene Symbol:	B9D2

B9D2

CUI:	C3280036
Disease:	MECKEL SYNDROME, TYPE 10

MECKEL SYNDROME, TYPE 10

0.500

GeneticVariation

UNIPROT

Disruption of a ciliary B9 protein complex causes Meckel syndrome.

21763481

2011

Entrez Id:	80776
Gene Symbol:	B9D2

B9D2

CUI:	C3280036
Disease:	MECKEL SYNDROME, TYPE 10

MECKEL SYNDROME, TYPE 10

0.500

Biomarker

GENOMICS_ENGLAND

Disruption of a ciliary B9 protein complex causes Meckel syndrome.

21763481

2011