DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Curly hair (finding) ×

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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:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0558165
Disease:	Curly hair (finding)

Curly hair (finding)

0.100

GeneticVariation

CLINVAR

Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

18413255

2008

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0558165
Disease:	Curly hair (finding)

Curly hair (finding)

0.100

CausalMutation

CLINVAR

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

15834506

2005

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0558165
Disease:	Curly hair (finding)

Curly hair (finding)

0.100

CausalMutation

CLINVAR

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

11704759

2001

Entrez Id:	6654
Gene Symbol:	SOS1

SOS1

CUI:	C0558165
Disease:	Curly hair (finding)

Curly hair (finding)

0.100

CausalMutation

CLINVAR

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0558165
Disease:	Curly hair (finding)

Curly hair (finding)

0.100

CausalMutation

CLINVAR

Entrez Id:	5894
Gene Symbol:	RAF1

RAF1

CUI:	C0558165
Disease:	Curly hair (finding)

Curly hair (finding)

0.100

CausalMutation

CLINVAR