DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Sparse and thin eyebrow ×

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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:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4282407
Disease:	Sparse and thin eyebrow

Sparse and thin eyebrow

0.100

GeneticVariation

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

27668699

2017

Entrez Id:	80816
Gene Symbol:	ASXL3

ASXL3

CUI:	C4282407
Disease:	Sparse and thin eyebrow

Sparse and thin eyebrow

0.100

CausalMutation

CLINVAR

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

27075689

2016

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C4282407
Disease:	Sparse and thin eyebrow

Sparse and thin eyebrow

0.100

CausalMutation

CLINVAR

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4282407
Disease:	Sparse and thin eyebrow

Sparse and thin eyebrow

0.100

CausalMutation

CLINVAR

Entrez Id:	6654
Gene Symbol:	SOS1

SOS1

CUI:	C4282407
Disease:	Sparse and thin eyebrow

Sparse and thin eyebrow

0.100

CausalMutation

CLINVAR

Entrez Id:	1896
Gene Symbol:	EDA

EDA

CUI:	C4282407
Disease:	Sparse and thin eyebrow

Sparse and thin eyebrow

0.100

CausalMutation

CLINVAR

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C4282407
Disease:	Sparse and thin eyebrow

Sparse and thin eyebrow

0.100

CausalMutation

CLINVAR

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

CUI:	C4282407
Disease:	Sparse and thin eyebrow

Sparse and thin eyebrow

0.100

GeneticVariation

CLINVAR