DisGeNET - a database of gene-disease associations

Laryngomalacia, C0264303

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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:	157680
Gene Symbol:	VPS13B

VPS13B

0.110

GeneticVariation

disease

BEFREE

A 13-month-old Caucasian girl of Irish and Spanish ancestry was noted to have micrognathia and laryngomalacia at birth, which prompted a genetic evaluation that revealed biallelic deletions in COH1 (VPS13B) (a maternally inherited 60-kb deletion involving exons 26-32 and a paternally inherited 3.5-kb deletion within exon 17) consistent with Cohen syndrome.

29634382

2018

Entrez Id:	1123
Gene Symbol:	CHN1

CHN1

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	4285
Gene Symbol:	MIPEP

MIPEP

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	4604
Gene Symbol:	MYBPC1

MYBPC1

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	4784
Gene Symbol:	NFIX

NFIX

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	285175
Gene Symbol:	UNC80

UNC80

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	3020
Gene Symbol:	H3-3A

H3-3A

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	157680
Gene Symbol:	VPS13B

VPS13B

0.110

Biomarker

disease

HPO

Entrez Id:	3239
Gene Symbol:	HOXD13

HOXD13

0.100

Biomarker

disease

HPO

Entrez Id:	27125
Gene Symbol:	AFF4

AFF4

0.100

Biomarker

disease

HPO

Entrez Id:	6239
Gene Symbol:	RREB1

RREB1

0.100

Biomarker

disease

HPO

Entrez Id:	374654
Gene Symbol:	KIF7

KIF7

0.100

Biomarker

disease

HPO

Entrez Id:	1387
Gene Symbol:	CREBBP

CREBBP

0.100

Biomarker

disease

HPO

Entrez Id:	7486
Gene Symbol:	WRN

WRN

0.100

Biomarker

disease

HPO

Entrez Id:	23594
Gene Symbol:	ORC6

ORC6

0.100

Biomarker

disease

HPO

Entrez Id:	6926
Gene Symbol:	TBX3

TBX3

0.100

Biomarker

disease

HPO

Entrez Id:	219844
Gene Symbol:	HYLS1

HYLS1

0.100

Biomarker

disease

HPO

Entrez Id:	2812
Gene Symbol:	GP1BB

GP1BB

0.100

Biomarker

disease

HPO

Entrez Id:	91179
Gene Symbol:	SCARF2

SCARF2

0.100

Biomarker

disease

HPO

Entrez Id:	6134
Gene Symbol:	RPL10

RPL10

0.100

Biomarker

disease

HPO

Entrez Id:	4038
Gene Symbol:	LRP4

LRP4

0.100

Biomarker

disease

HPO

Entrez Id:	1312
Gene Symbol:	COMT

COMT

0.100

Biomarker

disease

HPO

Entrez Id:	3339
Gene Symbol:	HSPG2

HSPG2

0.100

Biomarker

disease

HPO

Entrez Id:	427
Gene Symbol:	ASAH1

ASAH1

0.100

Biomarker

disease

HPO

Entrez Id:	7290
Gene Symbol:	HIRA

HIRA

0.100

Biomarker

disease

HPO