DisGeNET - a database of gene-disease associations

Thickened nuchal skin fold, C1836940

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:	513
Gene Symbol:	ATP5F1D

ATP5F1D

0.100

CausalMutation

phenotype

CLINVAR

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

2018

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.100

Biomarker

phenotype

HPO

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

0.100

Biomarker

phenotype

HPO

Entrez Id:	7317
Gene Symbol:	UBA1

UBA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

0.100

Biomarker

phenotype

HPO

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23556
Gene Symbol:	PIGN

PIGN

0.100

Biomarker

phenotype

HPO

Entrez Id:	23522
Gene Symbol:	KAT6B

KAT6B

0.100

Biomarker

phenotype

HPO

Entrez Id:	9321
Gene Symbol:	TRIP11

TRIP11

0.100

Biomarker

phenotype

HPO

Entrez Id:	4893
Gene Symbol:	NRAS

NRAS

0.100

Biomarker

phenotype

HPO

Entrez Id:	8799
Gene Symbol:	PEX11B

PEX11B

0.100

Biomarker

phenotype

HPO

Entrez Id:	22808
Gene Symbol:	MRAS

MRAS

0.100

Biomarker

phenotype

HPO

Entrez Id:	5824
Gene Symbol:	PEX19

PEX19

0.100

Biomarker

phenotype

HPO

Entrez Id:	144568
Gene Symbol:	A2ML1

A2ML1

0.100

Biomarker

phenotype

HPO

Entrez Id:	54664
Gene Symbol:	TMEM106B

TMEM106B

0.100

Biomarker

phenotype

HPO

Entrez Id:	1836
Gene Symbol:	SLC26A2

SLC26A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	8878
Gene Symbol:	SQSTM1

SQSTM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10682
Gene Symbol:	EBP

EBP

0.100

Biomarker

phenotype

HPO

Entrez Id:	29968
Gene Symbol:	PSAT1

PSAT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5828
Gene Symbol:	PEX2

PEX2

0.100

Biomarker

phenotype

HPO

Entrez Id:	3643
Gene Symbol:	INSR

INSR

0.100

Biomarker

phenotype

HPO

Entrez Id:	6016
Gene Symbol:	RIT1

RIT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

0.100

Biomarker

phenotype

HPO