DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Micrognathism ×

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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:	81603
Gene Symbol:	TRIM8

TRIM8

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

GeneticVariation

CLINVAR

Entrez Id:	10262
Gene Symbol:	SF3B4

SF3B4

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

CausalMutation

CLINVAR

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

CausalMutation

CLINVAR

Entrez Id:	4613
Gene Symbol:	MYCN

MYCN

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

CausalMutation

CLINVAR

Entrez Id:	84162
Gene Symbol:	KIAA1109

KIAA1109

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

GeneticVariation

CLINVAR

Entrez Id:	23036
Gene Symbol:	ZNF292

ZNF292

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

GeneticVariation

CLINVAR

Entrez Id:	55670
Gene Symbol:	PEX26

PEX26

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

CausalMutation

CLINVAR

Entrez Id:	2121
Gene Symbol:	EVC

EVC

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

GeneticVariation

CLINVAR

Entrez Id:	23314
Gene Symbol:	SATB2

SATB2

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

GeneticVariation

CLINVAR

Entrez Id:	171023
Gene Symbol:	ASXL1

ASXL1

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

CausalMutation

CLINVAR

Entrez Id:	64207
Gene Symbol:	IRF2BPL

IRF2BPL

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

GeneticVariation

CLINVAR

Entrez Id:	79728
Gene Symbol:	PALB2

PALB2

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

CausalMutation

CLINVAR

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

CausalMutation

CLINVAR

Entrez Id:	23299
Gene Symbol:	BICD2

BICD2

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

GeneticVariation

CLINVAR

Entrez Id:	6197
Gene Symbol:	RPS6KA3

RPS6KA3

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

GeneticVariation

CLINVAR

Entrez Id:	1123
Gene Symbol:	CHN1

CHN1

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

GeneticVariation

CLINVAR

Entrez Id:	9757
Gene Symbol:	KMT2B

KMT2B

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

GeneticVariation

CLINVAR

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

CausalMutation

CLINVAR

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

GeneticVariation

CLINVAR

Entrez Id:	10847
Gene Symbol:	SRCAP

SRCAP

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

CausalMutation

CLINVAR

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

CausalMutation

CLINVAR

Entrez Id:	6857
Gene Symbol:	SYT1

SYT1

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

GeneticVariation

CLINVAR

Entrez Id:	1654
Gene Symbol:	DDX3X

DDX3X

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.100

CausalMutation

CLINVAR