DisGeNET - a database of gene-disease associations

Nasal bridge wide, C1849367

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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:	24
Gene Symbol:	ABCA4

ABCA4

0.100

Biomarker

phenotype

HPO

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

0.100

Biomarker

phenotype

HPO

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:	51
Gene Symbol:	ACOX1

ACOX1

0.100

Biomarker

phenotype

HPO

Entrez Id:	60
Gene Symbol:	ACTB

ACTB

0.100

Biomarker

phenotype

HPO

Entrez Id:	71
Gene Symbol:	ACTG1

ACTG1

0.100

Biomarker

phenotype

HPO

Entrez Id:	95
Gene Symbol:	ACY1

ACY1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9508
Gene Symbol:	ADAMTS3

ADAMTS3

0.100

Biomarker

phenotype

HPO

Entrez Id:	92949
Gene Symbol:	ADAMTSL1

ADAMTSL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23394
Gene Symbol:	ADNP

ADNP

0.100

Biomarker

phenotype

HPO

Entrez Id:	175
Gene Symbol:	AGA

AGA

0.100

Biomarker

phenotype

HPO

Entrez Id:	60509
Gene Symbol:	AGBL5

AGBL5

0.100

Biomarker

phenotype

HPO

Entrez Id:	54806
Gene Symbol:	AHI1

AHI1

0.100

Biomarker

phenotype

HPO

Entrez Id:	196
Gene Symbol:	AHR

AHR

0.100

Biomarker

phenotype

HPO

Entrez Id:	10195
Gene Symbol:	ALG3

ALG3

0.100

Biomarker

phenotype

HPO

Entrez Id:	8092
Gene Symbol:	ALX1

ALX1

0.100

Biomarker

phenotype

HPO

Entrez Id:	257
Gene Symbol:	ALX3

ALX3

0.100

Biomarker

phenotype

HPO

Entrez Id:	60529
Gene Symbol:	ALX4

ALX4

0.100

Biomarker

phenotype

HPO

Entrez Id:	139285
Gene Symbol:	AMER1

AMER1

0.100

Biomarker

phenotype

HPO

Entrez Id:	56172
Gene Symbol:	ANKH

ANKH

0.100

Biomarker

phenotype

HPO

Entrez Id:	29123
Gene Symbol:	ANKRD11

ANKRD11

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	8546
Gene Symbol:	AP3B1

AP3B1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

0.100

Biomarker

phenotype

HPO

Entrez Id:	11154
Gene Symbol:	AP4S1

AP4S1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23370
Gene Symbol:	ARHGEF18

ARHGEF18

0.100

Biomarker

phenotype

HPO