DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: High forehead ×

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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:	C0239676
Disease:	High forehead

High forehead

0.100

GeneticVariation

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

2017

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

CUI:	C0239676
Disease:	High forehead

High forehead

0.100

CausalMutation

CLINVAR

Entrez Id:	81857
Gene Symbol:	MED25

MED25

CUI:	C0239676
Disease:	High forehead

High forehead

0.100

GeneticVariation

CLINVAR

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0239676
Disease:	High forehead

High forehead

0.100

CausalMutation

CLINVAR

Entrez Id:	867
Gene Symbol:	CBL

CBL

CUI:	C0239676
Disease:	High forehead

High forehead

0.100

GeneticVariation

CLINVAR

Entrez Id:	2904
Gene Symbol:	GRIN2B

GRIN2B

CUI:	C0239676
Disease:	High forehead

High forehead

0.100

GeneticVariation

CLINVAR

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0239676
Disease:	High forehead

High forehead

0.100

GeneticVariation

CLINVAR

Entrez Id:	81857
Gene Symbol:	MED25

MED25

CUI:	C0239676
Disease:	High forehead

High forehead

0.100

CausalMutation

CLINVAR

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0239676
Disease:	High forehead

High forehead

0.100

GeneticVariation

CLINVAR

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0239676
Disease:	High forehead

High forehead

0.100

CausalMutation

CLINVAR

Entrez Id:	3845
Gene Symbol:	KRAS

KRAS

CUI:	C0239676
Disease:	High forehead

High forehead

0.100

CausalMutation

CLINVAR

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

CUI:	C0239676
Disease:	High forehead

High forehead

0.100

CausalMutation

CLINVAR

Entrez Id:	5894
Gene Symbol:	RAF1

RAF1

CUI:	C0239676
Disease:	High forehead

High forehead

0.100

CausalMutation

CLINVAR

Entrez Id:	8831
Gene Symbol:	SYNGAP1

SYNGAP1

CUI:	C0239676
Disease:	High forehead

High forehead

0.100

GeneticVariation

CLINVAR

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0239676
Disease:	High forehead

High forehead

0.100

CausalMutation

CLINVAR

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

CUI:	C0239676
Disease:	High forehead

High forehead

0.100

CausalMutation

CLINVAR

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

CUI:	C0239676
Disease:	High forehead

High forehead

0.100

GeneticVariation

CLINVAR