DisGeNET - a database of gene-disease associations

B9D2, B9 domain containing 2, 80776

N. diseases: 66; N. variants: 13

Disease: MECKEL SYNDROME, TYPE 10 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs750436680

Entrez Id:	7040;80776
Gene Symbol:	TGFB1;B9D2

TGFB1;B9D2

CUI:	C3280036
Disease:

MECKEL SYNDROME, TYPE 10

0.700

GeneticVariation

UNIPROT

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

26092869

2015

dbSNP:

rs757863670

Entrez Id:	80776
Gene Symbol:	B9D2

B9D2

CUI:	C3280036
Disease:

MECKEL SYNDROME, TYPE 10

0.700

GeneticVariation

UNIPROT

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

26092869

2015

dbSNP:

rs1487082103

Entrez Id:	7040;80776
Gene Symbol:	TGFB1;B9D2

TGFB1;B9D2

CUI:	C3280036
Disease:

MECKEL SYNDROME, TYPE 10

0.700

GeneticVariation

UNIPROT

dbSNP:

rs863225150

Entrez Id:	7040;80776
Gene Symbol:	TGFB1;B9D2

TGFB1;B9D2

CUI:	C3280036
Disease:

MECKEL SYNDROME, TYPE 10

0.700

GeneticVariation

UNIPROT