DisGeNET - a database of gene-disease associations

Facial diplegia, C1836003

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:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

0.100

GeneticVariation

phenotype

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

2017

Entrez Id:	1073
Gene Symbol:	CFL2

CFL2

0.100

Biomarker

phenotype

HPO

Entrez Id:	7415
Gene Symbol:	VCP

VCP

0.100

Biomarker

phenotype

HPO

Entrez Id:	390594
Gene Symbol:	KBTBD13

KBTBD13

0.100

Biomarker

phenotype

HPO

Entrez Id:	138050
Gene Symbol:	HGSNAT

HGSNAT

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	7170
Gene Symbol:	TPM3

TPM3

0.100

Biomarker

phenotype

HPO

Entrez Id:	56652
Gene Symbol:	TWNK

TWNK

0.100

Biomarker

phenotype

HPO

Entrez Id:	56203
Gene Symbol:	LMOD3

LMOD3

0.100

Biomarker

phenotype

HPO

Entrez Id:	19
Gene Symbol:	ABCA1

ABCA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	113278
Gene Symbol:	SLC52A3

SLC52A3

0.100

Biomarker

phenotype

HPO

Entrez Id:	91574
Gene Symbol:	C12orf65

C12orf65

0.100

Biomarker

phenotype

HPO

Entrez Id:	7169
Gene Symbol:	TPM2

TPM2

0.100

Biomarker

phenotype

HPO

Entrez Id:	7273
Gene Symbol:	TTN

TTN

0.100

Biomarker

phenotype

HPO

Entrez Id:	2733
Gene Symbol:	GLE1

GLE1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4359
Gene Symbol:	MPZ

MPZ

0.100

Biomarker

phenotype

HPO

Entrez Id:	10585
Gene Symbol:	POMT1

POMT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

0.100

Biomarker

phenotype

HPO

Entrez Id:	112
Gene Symbol:	ADCY6

ADCY6

0.100

Biomarker

phenotype

HPO

Entrez Id:	131377
Gene Symbol:	KLHL40

KLHL40

0.100

Biomarker

phenotype

HPO

Entrez Id:	64207
Gene Symbol:	IRF2BPL

IRF2BPL

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	50484
Gene Symbol:	RRM2B

RRM2B

0.100

Biomarker

phenotype

HPO

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	50964
Gene Symbol:	SOST

SOST

0.100

Biomarker

phenotype

HPO

Entrez Id:	4703
Gene Symbol:	NEB

NEB

0.100

Biomarker

phenotype

HPO

Entrez Id:	1760
Gene Symbol:	DMPK

DMPK

0.100

Biomarker

phenotype

HPO