DisGeNET - a database of gene-disease associations

Opisthotonus, C0151818

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:	8621
Gene Symbol:	CDK13

CDK13

0.100

GeneticVariation

phenotype

CLINVAR

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

2017

Entrez Id:	64087
Gene Symbol:	MCCC2

MCCC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2629
Gene Symbol:	GBA

GBA

0.100

Biomarker

phenotype

HPO

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9757
Gene Symbol:	KMT2B

KMT2B

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	132158
Gene Symbol:	GLYCTK

GLYCTK

0.100

Biomarker

phenotype

HPO

Entrez Id:	55275
Gene Symbol:	VPS53

VPS53

0.100

Biomarker

phenotype

HPO

Entrez Id:	5805
Gene Symbol:	PTS

PTS

0.100

Biomarker

phenotype

HPO

Entrez Id:	4976
Gene Symbol:	OPA1

OPA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1727
Gene Symbol:	CYB5R3

CYB5R3

0.100

Biomarker

phenotype

HPO

Entrez Id:	9244
Gene Symbol:	CRLF1

CRLF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	158
Gene Symbol:	ADSL

ADSL

0.100

Biomarker

phenotype

HPO

Entrez Id:	80025
Gene Symbol:	PANK2

PANK2

0.100

Biomarker

phenotype

HPO

Entrez Id:	79587
Gene Symbol:	CARS2

CARS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	26227
Gene Symbol:	PHGDH

PHGDH

0.100

Biomarker

phenotype

HPO

Entrez Id:	443
Gene Symbol:	ASPA

ASPA

0.100

Biomarker

phenotype

HPO

Entrez Id:	2639
Gene Symbol:	GCDH

GCDH

0.100

Biomarker

phenotype

HPO

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	54820
Gene Symbol:	NDE1

NDE1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4338
Gene Symbol:	MOCS2

MOCS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	29968
Gene Symbol:	PSAT1

PSAT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4337
Gene Symbol:	MOCS1

MOCS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	80746
Gene Symbol:	TSEN2

TSEN2

0.100

Biomarker

phenotype

HPO

Entrez Id:	440138
Gene Symbol:	ALG11

ALG11

0.100

Biomarker

phenotype

HPO

Entrez Id:	283989
Gene Symbol:	TSEN54

TSEN54

0.100

Biomarker

phenotype

HPO