DisGeNET - a database of gene-disease associations

Wide anterior fontanel, C1866134

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:	2475
Gene Symbol:	MTOR

MTOR

0.100

CausalMutation

phenotype

CLINVAR

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

2016

Entrez Id:	1387
Gene Symbol:	CREBBP

CREBBP

0.100

Biomarker

phenotype

HPO

Entrez Id:	8642
Gene Symbol:	DCHS1

DCHS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5648
Gene Symbol:	MASP1

MASP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23545
Gene Symbol:	ATP6V0A2

ATP6V0A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

0.100

Biomarker

phenotype

HPO

Entrez Id:	388650
Gene Symbol:	DIPK1A

DIPK1A

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	6662
Gene Symbol:	SOX9

SOX9

0.100

Biomarker

phenotype

HPO

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

0.100

Biomarker

phenotype

HPO

Entrez Id:	8504
Gene Symbol:	PEX3

PEX3

0.100

Biomarker

phenotype

HPO

Entrez Id:	54888
Gene Symbol:	NSUN2

NSUN2

0.100

Biomarker

phenotype

HPO

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	5193
Gene Symbol:	PEX12

PEX12

0.100

Biomarker

phenotype

HPO

Entrez Id:	5830
Gene Symbol:	PEX5

PEX5

0.100

Biomarker

phenotype

HPO

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

0.100

Biomarker

phenotype

HPO

Entrez Id:	84168
Gene Symbol:	ANTXR1

ANTXR1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9409
Gene Symbol:	PEX16

PEX16

0.100

Biomarker

phenotype

HPO

Entrez Id:	7474
Gene Symbol:	WNT5A

WNT5A

0.100

Biomarker

phenotype

HPO

Entrez Id:	6125
Gene Symbol:	RPL5

RPL5

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	51684
Gene Symbol:	SUFU

SUFU

0.100

Biomarker

phenotype

HPO

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

0.100

Biomarker

phenotype

HPO

Entrez Id:	56160
Gene Symbol:	NSMCE3

NSMCE3

0.100

Biomarker

phenotype

HPO

Entrez Id:	79796
Gene Symbol:	ALG9

ALG9

0.100

Biomarker

phenotype

HPO

Entrez Id:	7291
Gene Symbol:	TWIST1

TWIST1

0.100

Biomarker

phenotype

HPO