DisGeNET - a database of gene-disease associations

BHLHA9, basic helix-loop-helix family member a9, 727857

N. diseases: 65; N. variants: 4

Disease: Split hand foot deformity 1 ×

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C2931019
Disease:	Split hand foot deformity 1

Split hand foot deformity 1

0.030

Biomarker

disease

BEFREE

Gene dosage of the transcription factor Fingerin (bHLHA9) affects digit development and links syndactyly to ectrodactyly.

24852374

2014

CUI:	C2931019
Disease:	Split hand foot deformity 1

Split hand foot deformity 1

0.030

GeneticVariation

disease

BEFREE

Here, we report on 13 new families presenting with ectrodactyly and harboring a BHLHA9 duplication.

23790188

2014

CUI:	C2931019
Disease:	Split hand foot deformity 1

Split hand foot deformity 1

0.030

GeneticVariation

disease

BEFREE

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

22147889

2012