DisGeNET - a database of gene-disease associations

Congenital ear anomaly NOS (disorder), C0266589

Gene: SALL1 ×

Source: ALL

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6299
Gene Symbol:	SALL1

SALL1

0.110

GeneticVariation

group

BEFREE

Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.

2007

Entrez Id:	6299
Gene Symbol:	SALL1

SALL1

0.110

Biomarker

group

HPO