DisGeNET - a database of gene-disease associations

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:	C0265633
Disease:	Congenital absence of tibia

Congenital absence of tibia

0.310

GermlineCausalMutation

ORPHANET

Here we describe an ~5 kb deletion within the SHH repressor GLI3 in two patients with bilateral tibial hemimelia.

2016