DisGeNET - a database of gene-disease associations

High anterior hairline, C3276036

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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

0.100

GeneticVariation

phenotype

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

2017

Entrez Id:	1748
Gene Symbol:	DLX4

DLX4

0.100

Biomarker

phenotype

HPO

Entrez Id:	29072
Gene Symbol:	SETD2

SETD2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10735
Gene Symbol:	STAG2

STAG2

0.100

Biomarker

phenotype

HPO

Entrez Id:	26047
Gene Symbol:	CNTNAP2

CNTNAP2

0.100

Biomarker

phenotype

HPO

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23394
Gene Symbol:	ADNP

ADNP

0.100

Biomarker

phenotype

HPO

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

0.100

Biomarker

phenotype

HPO

Entrez Id:	7469
Gene Symbol:	NELFA

NELFA

0.100

Biomarker

phenotype

HPO

Entrez Id:	8812
Gene Symbol:	CCNK

CCNK

0.100

Biomarker

phenotype

HPO

Entrez Id:	7468
Gene Symbol:	NSD2

NSD2

0.100

Biomarker

phenotype

HPO

Entrez Id:	55906
Gene Symbol:	ZC4H2

ZC4H2

0.100

Biomarker

phenotype

HPO

Entrez Id:	84679
Gene Symbol:	SLC9A7

SLC9A7

0.100

Biomarker

phenotype

HPO

Entrez Id:	79228
Gene Symbol:	THOC6

THOC6

0.100

Biomarker

phenotype

HPO

Entrez Id:	54361
Gene Symbol:	WNT4

WNT4

0.100

Biomarker

phenotype

HPO

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

0.100

Biomarker

phenotype

HPO

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	10283
Gene Symbol:	CWC27

CWC27

0.100

Biomarker

phenotype

HPO

Entrez Id:	79718
Gene Symbol:	TBL1XR1

TBL1XR1

0.100

Biomarker

phenotype

HPO

Entrez Id:	25942
Gene Symbol:	SIN3A

SIN3A

0.100

Biomarker

phenotype

HPO

Entrez Id:	4212
Gene Symbol:	MEIS2

MEIS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	3954
Gene Symbol:	LETM1

LETM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9378
Gene Symbol:	NRXN1

NRXN1

0.100

Biomarker

phenotype

HPO