DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Sparse eyebrow ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

B-Raf proto-oncogene, serine/threonine kinase

0.319

0.846

1.00

CUI:	C1832446
Disease:	Sparse eyebrow

Sparse eyebrow

phenotype

0.100

None

1.000

2008

2008

Entrez Id:	1801
Gene Symbol:	DPH1

DPH1

diphthamide biosynthesis 1

0.653

0.538

8.0E-17

CUI:	C1832446
Disease:	Sparse eyebrow

Sparse eyebrow

phenotype

0.100

None

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

fibrillin 2

0.505

0.808

1.00

CUI:	C1832446
Disease:	Sparse eyebrow

Sparse eyebrow

phenotype

0.100

None

Entrez Id:	54453
Gene Symbol:	RIN2

RIN2

Ras and Rab interactor 2

0.623

0.692

8.1E-04

CUI:	C1832446
Disease:	Sparse eyebrow

Sparse eyebrow

phenotype

0.100

None

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

transcriptional repressor GATA binding 1

0.537

0.769

1.00

CUI:	C1832446
Disease:	Sparse eyebrow

Sparse eyebrow

phenotype

0.100

None

Entrez Id:	8289
Gene Symbol:	ARID1A

ARID1A

AT-rich interaction domain 1A

0.455

0.846

1.00

CUI:	C1832446
Disease:	Sparse eyebrow

Sparse eyebrow

phenotype

0.100

None