DisGeNET - a database of gene-disease associations

Reduced fetal movement, C0235659

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:	23299
Gene Symbol:	BICD2

BICD2

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.

2018

Entrez Id:	23299
Gene Symbol:	BICD2

BICD2

0.400

GeneticVariation

phenotype

CLINVAR

Entrez Id:	23299
Gene Symbol:	BICD2

BICD2

0.400

Biomarker

phenotype

HPO

Entrez Id:	10324
Gene Symbol:	KLHL41

KLHL41

0.100

Biomarker

phenotype

HPO

Entrez Id:	51776
Gene Symbol:	MAP3K20

MAP3K20

0.100

Biomarker

phenotype

HPO

Entrez Id:	145173
Gene Symbol:	B3GLCT

B3GLCT

0.100

Biomarker

phenotype

HPO

Entrez Id:	342035
Gene Symbol:	GLDN

GLDN

0.100

Biomarker

phenotype

HPO

Entrez Id:	23345
Gene Symbol:	SYNE1

SYNE1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10108
Gene Symbol:	MKRN3-AS1

MKRN3-AS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	51008
Gene Symbol:	ASCC1

ASCC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	7874
Gene Symbol:	USP7

USP7

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	3508
Gene Symbol:	IGHMBP2

IGHMBP2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2065
Gene Symbol:	ERBB3

ERBB3

0.100

Biomarker

phenotype

HPO

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

0.100

Biomarker

phenotype

HPO

Entrez Id:	27238
Gene Symbol:	GPKOW

GPKOW

0.100

Biomarker

phenotype

HPO

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

0.100

Biomarker

phenotype

HPO

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4534
Gene Symbol:	MTM1

MTM1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	1145
Gene Symbol:	CHRNE

CHRNE

0.100

Biomarker

phenotype

HPO

Entrez Id:	6843
Gene Symbol:	VAMP1

VAMP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5530
Gene Symbol:	PPP3CA

PPP3CA

0.100

Biomarker

phenotype

HPO

Entrez Id:	2778
Gene Symbol:	GNAS

GNAS

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	4359
Gene Symbol:	MPZ

MPZ

0.100

Biomarker

phenotype

HPO

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

0.100

Biomarker

phenotype

HPO