DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Polydactyly ×

Gene: BHLHA9 ×

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:	727857
Gene Symbol:	BHLHA9

BHLHA9

CUI:	C0152427
Disease:	Polydactyly

Polydactyly

0.420

Biomarker

GENOMICS_ENGLAND

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

2012