DisGeNET - a database of gene-disease associations

Muscle hypotonia, C0026827

Variant: rs1554774587 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

DNM1 encephalopathy: A new disease of vesicle fission.

28667181

2017

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

A class of dynamin-like GTPases involved in the generation of the tubular ER network.

19665976

2009

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

A dynamin GTPase mutation causes a rapid and reversible temperature-inducible locomotion defect in C. elegans.

9294229

1997

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

A lethal defect of mitochondrial and peroxisomal fission.

17460227

2007

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice.

20700442

2010

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

A novel member of the dynamin family of GTP-binding proteins is expressed specifically in the testis.

8360266

1993

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis.

17463283

2007

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

Building a fission machine--structural insights into dynamin assembly and activation.

23781021

2013

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

Cell- and stimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons.

18250322

2008

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

De novo DNM1 mutations in two cases of epileptic encephalopathy.

26611353

2016

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

25262651

2014

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice.

11879655

2002

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

Dominant-negative inhibition of receptor-mediated endocytosis by a dynamin-1 mutant with a defective pleckstrin homology domain.

10074457

1999

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

23092955

2013

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

Dynamin GTPase domain mutants block endocytic vesicle formation at morphologically distinct stages.

11553700

2001

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding.

7877694

1995

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

Dynamin, a membrane-remodelling GTPase.

22233676

2012

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic.

1674590

1991

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

G domain dimerization controls dynamin's assembly-stimulated GTPase activity.

20428113

2010

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin.

19633650

2009

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.

14985377

2004

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues.

8290576

1994

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

Induction of mutant dynamin specifically blocks endocytic coated vesicle formation.

7962076

1994

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs1554774587

DNM1

0.700

CausalMutation

CLINVAR

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis.

12509422

2003