DisGeNET - a database of gene-disease associations

Neonatal respiratory distress, C4281993

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Source: ALL

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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:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	501
Gene Symbol:	ALDH7A1

ALDH7A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3020
Gene Symbol:	H3-3A

H3-3A

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	6439
Gene Symbol:	SFTPB

SFTPB

0.100

Biomarker

phenotype

HPO

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	83861
Gene Symbol:	RSPH3

RSPH3

0.100

Biomarker

phenotype

HPO

Entrez Id:	6261
Gene Symbol:	RYR1

RYR1

0.100

Biomarker

phenotype

HPO

Entrez Id:	51119
Gene Symbol:	SBDS

SBDS

0.100

Biomarker

phenotype

HPO

Entrez Id:	7994
Gene Symbol:	KAT6A

KAT6A

0.100

Biomarker

phenotype

HPO

Entrez Id:	823
Gene Symbol:	CAPN1

CAPN1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	57061
Gene Symbol:	HYMAI

HYMAI

0.100

Biomarker

phenotype

HPO

Entrez Id:	10999
Gene Symbol:	SLC27A4

SLC27A4

0.100

Biomarker

phenotype

HPO

Entrez Id:	4604
Gene Symbol:	MYBPC1

MYBPC1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	6729
Gene Symbol:	SRP54

SRP54

0.100

Biomarker

phenotype

HPO

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	6662
Gene Symbol:	SOX9

SOX9

0.100

Biomarker

phenotype

HPO

Entrez Id:	84231
Gene Symbol:	TRAF7

TRAF7

0.100

Biomarker

phenotype

HPO

Entrez Id:	9321
Gene Symbol:	TRIP11

TRIP11

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	54551
Gene Symbol:	MAGEL2

MAGEL2

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	6440
Gene Symbol:	SFTPC

SFTPC

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

0.100

CausalMutation

phenotype

CLINVAR