DisGeNET - a database of gene-disease associations

Large nose, C0426415

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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:	2186
Gene Symbol:	BPTF

BPTF

0.100

CausalMutation

phenotype

CLINVAR

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

2017

Entrez Id:	23389
Gene Symbol:	MED13L

MED13L

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	23522
Gene Symbol:	KAT6B

KAT6B

0.100

Biomarker

phenotype

HPO

Entrez Id:	10735
Gene Symbol:	STAG2

STAG2

0.100

Biomarker

phenotype

HPO

Entrez Id:	545
Gene Symbol:	ATR

ATR

0.100

Biomarker

phenotype

HPO

Entrez Id:	9853
Gene Symbol:	RUSC2

RUSC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	153241
Gene Symbol:	CEP120

CEP120

0.100

Biomarker

phenotype

HPO

Entrez Id:	55331
Gene Symbol:	ACER3

ACER3

0.100

Biomarker

phenotype

HPO

Entrez Id:	23258
Gene Symbol:	DENND5A

DENND5A

0.100

Biomarker

phenotype

HPO

Entrez Id:	1062
Gene Symbol:	CENPE

CENPE

0.100

Biomarker

phenotype

HPO

Entrez Id:	4810
Gene Symbol:	NHS

NHS

0.100

Biomarker

phenotype

HPO

Entrez Id:	444
Gene Symbol:	ASPH

ASPH

0.100

Biomarker

phenotype

HPO

Entrez Id:	6786
Gene Symbol:	STIM1

STIM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	26224
Gene Symbol:	FBXL3

FBXL3

0.100

Biomarker

phenotype

HPO

Entrez Id:	10466
Gene Symbol:	COG5

COG5

0.100

Biomarker

phenotype

HPO

Entrez Id:	80185
Gene Symbol:	TTI2

TTI2

0.100

Biomarker

phenotype

HPO

Entrez Id:	3675
Gene Symbol:	ITGA3

ITGA3

0.100

Biomarker

phenotype

HPO

Entrez Id:	2248
Gene Symbol:	FGF3

FGF3

0.100

Biomarker

phenotype

HPO

Entrez Id:	57465
Gene Symbol:	TBC1D24

TBC1D24

0.100

Biomarker

phenotype

HPO

Entrez Id:	100151683
Gene Symbol:	RNU4ATAC

RNU4ATAC

0.100

Biomarker

phenotype

HPO

Entrez Id:	23118
Gene Symbol:	TAB2

TAB2

0.100

Biomarker

phenotype

HPO

Entrez Id:	8905
Gene Symbol:	AP1S2

AP1S2

0.100

Biomarker

phenotype

HPO

Entrez Id:	55777
Gene Symbol:	MBD5

MBD5

0.100

Biomarker

phenotype

HPO

Entrez Id:	285175
Gene Symbol:	UNC80

UNC80

0.100

Biomarker

phenotype

HPO

Entrez Id:	157680
Gene Symbol:	VPS13B

VPS13B

0.100

CausalMutation

phenotype

CLINVAR