DisGeNET - a database of gene-disease associations

Flexion contracture of proximal interphalangeal joint, C0409348

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:	80816
Gene Symbol:	ASXL3

ASXL3

0.100

CausalMutation

phenotype

CLINVAR

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

2016

Entrez Id:	3918
Gene Symbol:	LAMC2

LAMC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	3914
Gene Symbol:	LAMB3

LAMB3

0.100

Biomarker

phenotype

HPO

Entrez Id:	84942
Gene Symbol:	WDR73

WDR73

0.100

Biomarker

phenotype

HPO

Entrez Id:	5696
Gene Symbol:	PSMB8

PSMB8

0.100

Biomarker

phenotype

HPO

Entrez Id:	1723
Gene Symbol:	DHODH

DHODH

0.100

Biomarker

phenotype

HPO

Entrez Id:	2067
Gene Symbol:	ERCC1

ERCC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4654
Gene Symbol:	MYOD1

MYOD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

0.100

Biomarker

phenotype

HPO

Entrez Id:	9469
Gene Symbol:	CHST3

CHST3

0.100

Biomarker

phenotype

HPO

Entrez Id:	3020
Gene Symbol:	H3-3A

H3-3A

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	8726
Gene Symbol:	EED

EED

0.100

Biomarker

phenotype

HPO

Entrez Id:	3897
Gene Symbol:	L1CAM

L1CAM

0.100

Biomarker

phenotype

HPO

Entrez Id:	84667
Gene Symbol:	HES7

HES7

0.100

Biomarker

phenotype

HPO

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	27238
Gene Symbol:	GPKOW

GPKOW

0.100

Biomarker

phenotype

HPO

Entrez Id:	55975
Gene Symbol:	KLHL7

KLHL7

0.100

Biomarker

phenotype

HPO

Entrez Id:	285590
Gene Symbol:	SH3PXD2B

SH3PXD2B

0.100

Biomarker

phenotype

HPO

Entrez Id:	3239
Gene Symbol:	HOXD13

HOXD13

0.100

Biomarker

phenotype

HPO

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

0.100

Biomarker

phenotype

HPO

Entrez Id:	1301
Gene Symbol:	COL11A1

COL11A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8514
Gene Symbol:	KCNAB2

KCNAB2

0.100

Biomarker

phenotype

HPO

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	64840
Gene Symbol:	PORCN

PORCN

0.100

Biomarker

phenotype

HPO

Entrez Id:	285489
Gene Symbol:	DOK7

DOK7

0.100

Biomarker

phenotype

HPO