Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR DNM1 encephalopathy: A new disease of vesicle fission. 28667181

2017

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR DNM1 encephalopathy: A new disease of vesicle fission. 28667181

2017

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353

2016

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353

2016

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. 23092955

2013

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR Building a fission machine--structural insights into dynamin assembly and activation. 23781021

2013

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Building a fission machine--structural insights into dynamin assembly and activation. 23781021

2013

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. 23092955

2013

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Dynamin, a membrane-remodelling GTPase. 22233676

2012

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR Dynamin, a membrane-remodelling GTPase. 22233676

2012

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission. 22099461

2011

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. 21441247

2011

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission. 22099461

2011

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. 21441247

2011

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR The crystal structure of dynamin. 21927001

2011

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I. 21926968

2011

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I. 21926968

2011

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR The crystal structure of dynamin. 21927001

2011

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Mitochondrial fusion and fission in cell life and death. 21102612

2010