DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Triangular face ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	23363
Gene Symbol:	OBSL1

OBSL1

CUI:	C1835884
Disease:	Triangular face

Triangular face

0.100

GeneticVariation

CLINVAR

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

30980518

2019

Entrez Id:	9820
Gene Symbol:	CUL7

CUL7

CUI:	C1835884
Disease:	Triangular face

Triangular face

0.100

GeneticVariation

CLINVAR

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

30980518

2019

Entrez Id:	89953
Gene Symbol:	KLC4

KLC4

CUI:	C1835884
Disease:	Triangular face

Triangular face

0.100

GeneticVariation

CLINVAR

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

30980518

2019

Entrez Id:	253738
Gene Symbol:	EBF3

EBF3

CUI:	C1835884
Disease:	Triangular face

Triangular face

0.100

CausalMutation

CLINVAR

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

28017372

2017

Entrez Id:	5831
Gene Symbol:	PYCR1

PYCR1

CUI:	C1835884
Disease:	Triangular face

Triangular face

0.100

CausalMutation

CLINVAR

Entrez Id:	8831
Gene Symbol:	SYNGAP1

SYNGAP1

CUI:	C1835884
Disease:	Triangular face

Triangular face

0.100

GeneticVariation

CLINVAR

Entrez Id:	6197
Gene Symbol:	RPS6KA3

RPS6KA3

CUI:	C1835884
Disease:	Triangular face

Triangular face

0.100

GeneticVariation

CLINVAR

Entrez Id:	6909
Gene Symbol:	TBX2

TBX2

CUI:	C1835884
Disease:	Triangular face

Triangular face

0.100

CausalMutation

CLINVAR

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C1835884
Disease:	Triangular face

Triangular face

0.100

CausalMutation

CLINVAR

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C1835884
Disease:	Triangular face

Triangular face

0.100

CausalMutation

CLINVAR

Entrez Id:	1859
Gene Symbol:	DYRK1A

DYRK1A

CUI:	C1835884
Disease:	Triangular face

Triangular face

0.100

CausalMutation

CLINVAR

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C1835884
Disease:	Triangular face

Triangular face

0.100

GeneticVariation

CLINVAR

Entrez Id:	1654
Gene Symbol:	DDX3X

DDX3X

CUI:	C1835884
Disease:	Triangular face

Triangular face

0.100

CausalMutation

CLINVAR