DisGeNET - a database of gene-disease associations

Limitation of joint mobility, C1857108

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:	26960
Gene Symbol:	NBEA

NBEA

0.100

GeneticVariation

phenotype

CLINVAR

NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

2018

Entrez Id:	1299
Gene Symbol:	COL9A3

COL9A3

0.100

Biomarker

phenotype

HPO

Entrez Id:	3248
Gene Symbol:	HPGD

HPGD

0.100

Biomarker

phenotype

HPO

Entrez Id:	56172
Gene Symbol:	ANKH

ANKH

0.100

Biomarker

phenotype

HPO

Entrez Id:	9051
Gene Symbol:	PSTPIP1

PSTPIP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9496
Gene Symbol:	TBX4

TBX4

0.100

Biomarker

phenotype

HPO

Entrez Id:	9935
Gene Symbol:	MAFB

MAFB

0.100

Biomarker

phenotype

HPO

Entrez Id:	60386
Gene Symbol:	SLC25A19

SLC25A19

0.100

Biomarker

phenotype

HPO

Entrez Id:	27238
Gene Symbol:	GPKOW

GPKOW

0.100

Biomarker

phenotype

HPO

Entrez Id:	1298
Gene Symbol:	COL9A2

COL9A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	64127
Gene Symbol:	NOD2

NOD2

0.100

Biomarker

phenotype

HPO

Entrez Id:	5354
Gene Symbol:	PLP1

PLP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	90
Gene Symbol:	ACVR1

ACVR1

0.100

Biomarker

phenotype

HPO

Entrez Id:	81794
Gene Symbol:	ADAMTS10

ADAMTS10

0.100

Biomarker

phenotype

HPO

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

0.100

Biomarker

phenotype

HPO

Entrez Id:	4322
Gene Symbol:	MMP13

MMP13

0.100

Biomarker

phenotype

HPO

Entrez Id:	3691
Gene Symbol:	ITGB4

ITGB4

0.100

Biomarker

phenotype

HPO

Entrez Id:	9244
Gene Symbol:	CRLF1

CRLF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1311
Gene Symbol:	COMP

COMP

0.100

Biomarker

phenotype

HPO

Entrez Id:	55975
Gene Symbol:	KLHL7

KLHL7

0.100

Biomarker

phenotype

HPO

Entrez Id:	54209
Gene Symbol:	TREM2

TREM2

0.100

Biomarker

phenotype

HPO

Entrez Id:	919
Gene Symbol:	CD247

CD247

0.100

Biomarker

phenotype

HPO

Entrez Id:	6775
Gene Symbol:	STAT4

STAT4

0.100

Biomarker

phenotype

HPO

Entrez Id:	727857
Gene Symbol:	BHLHA9

BHLHA9

0.100

Biomarker

phenotype

HPO

Entrez Id:	59344
Gene Symbol:	ALOXE3

ALOXE3

0.100

Biomarker

phenotype

HPO