DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: POSTAXIAL POLYDACTYLY, TYPE B ×

Gene: GLI3 ×

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:	2737
Gene Symbol:	GLI3

GLI3

CUI:	C1868120
Disease:	POSTAXIAL POLYDACTYLY, TYPE B

POSTAXIAL POLYDACTYLY, TYPE B

0.500

GermlineCausalMutation

ORPHANET

Nosology and classification of genetic skeletal disorders: 2015 revision.

26394607

2015

Entrez Id:	2737
Gene Symbol:	GLI3

GLI3

CUI:	C1868120
Disease:	POSTAXIAL POLYDACTYLY, TYPE B

POSTAXIAL POLYDACTYLY, TYPE B

0.500

GermlineCausalMutation

ORPHANET

Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.

18000979

2007