DisGeNET - a database of gene-disease associations

Increased nuchal translucency, C4023676

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:	8216
Gene Symbol:	LZTR1

LZTR1

0.300

Biomarker

phenotype

GENOMICS_ENGLAND

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

2018

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

0.300

Biomarker

phenotype

GENOMICS_ENGLAND

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

2015

Entrez Id:	2006
Gene Symbol:	ELN

ELN

0.100

Biomarker

phenotype

HPO

Entrez Id:	7461
Gene Symbol:	CLIP2

CLIP2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

0.100

Biomarker

phenotype

HPO

Entrez Id:	2969
Gene Symbol:	GTF2I

GTF2I

0.100

Biomarker

phenotype

HPO

Entrez Id:	10082
Gene Symbol:	GPC6

GPC6

0.100

Biomarker

phenotype

HPO

Entrez Id:	26608
Gene Symbol:	TBL2

TBL2

0.100

Biomarker

phenotype

HPO

Entrez Id:	701
Gene Symbol:	BUB1B

BUB1B

0.100

Biomarker

phenotype

HPO

Entrez Id:	5885
Gene Symbol:	RAD21

RAD21

0.100

Biomarker

phenotype

HPO

Entrez Id:	55697
Gene Symbol:	VAC14

VAC14

0.100

Biomarker

phenotype

HPO

Entrez Id:	25836
Gene Symbol:	NIPBL

NIPBL

0.100

Biomarker

phenotype

HPO

Entrez Id:	6654
Gene Symbol:	SOS1

SOS1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

0.100

Biomarker

phenotype

HPO

Entrez Id:	9184
Gene Symbol:	BUB3

BUB3

0.100

Biomarker

phenotype

HPO

Entrez Id:	9031
Gene Symbol:	BAZ1B

BAZ1B

0.100

Biomarker

phenotype

HPO

Entrez Id:	23556
Gene Symbol:	PIGN

PIGN

0.100

Biomarker

phenotype

HPO

Entrez Id:	5982
Gene Symbol:	RFC2

RFC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	4297
Gene Symbol:	KMT2A

KMT2A

0.100

Biomarker

phenotype

HPO

Entrez Id:	55869
Gene Symbol:	HDAC8

HDAC8

0.100

Biomarker

phenotype

HPO

Entrez Id:	168667
Gene Symbol:	BMPER

BMPER

0.100

Biomarker

phenotype

HPO

Entrez Id:	9702
Gene Symbol:	CEP57

CEP57

0.100

Biomarker

phenotype

HPO

Entrez Id:	6016
Gene Symbol:	RIT1

RIT1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	9569
Gene Symbol:	GTF2IRD1

GTF2IRD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9896
Gene Symbol:	FIG4

FIG4

0.100

Biomarker

phenotype

HPO