DisGeNET - a database of gene-disease associations

Nasal bridge wide, C1849367

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:	10060
Gene Symbol:	ABCC9

ABCC9

0.100

GeneticVariation

phenotype

CLINVAR

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

2016

Entrez Id:	55975
Gene Symbol:	KLHL7

KLHL7

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	7287
Gene Symbol:	TULP1

TULP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

0.100

Biomarker

phenotype

HPO

Entrez Id:	3040
Gene Symbol:	HBA2

HBA2

0.100

Biomarker

phenotype

HPO

Entrez Id:	23418
Gene Symbol:	CRB1

CRB1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23241
Gene Symbol:	PACS2

PACS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	84140
Gene Symbol:	FAM161A

FAM161A

0.100

Biomarker

phenotype

HPO

Entrez Id:	2239
Gene Symbol:	GPC4

GPC4

0.100

Biomarker

phenotype

HPO

Entrez Id:	51684
Gene Symbol:	SUFU

SUFU

0.100

Biomarker

phenotype

HPO

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8514
Gene Symbol:	KCNAB2

KCNAB2

0.100

Biomarker

phenotype

HPO

Entrez Id:	92840
Gene Symbol:	REEP6

REEP6

0.100

Biomarker

phenotype

HPO

Entrez Id:	55624
Gene Symbol:	POMGNT1

POMGNT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	150468
Gene Symbol:	CKAP2L

CKAP2L

0.100

Biomarker

phenotype

HPO

Entrez Id:	64359
Gene Symbol:	NXN

NXN

0.100

Biomarker

phenotype

HPO

Entrez Id:	1909
Gene Symbol:	EDNRA

EDNRA

0.100

Biomarker

phenotype

HPO

Entrez Id:	4901
Gene Symbol:	NRL

NRL

0.100

Biomarker

phenotype

HPO

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	9772
Gene Symbol:	TMEM94

TMEM94

0.100

Biomarker

phenotype

HPO

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

0.100

Biomarker

phenotype

HPO

Entrez Id:	84570
Gene Symbol:	COL25A1

COL25A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	257
Gene Symbol:	ALX3

ALX3

0.100

Biomarker

phenotype

HPO

Entrez Id:	6473
Gene Symbol:	SHOX

SHOX

0.100

Biomarker

phenotype

HPO

Entrez Id:	71
Gene Symbol:	ACTG1

ACTG1

0.100

Biomarker

phenotype

HPO