Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083

2017

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR CLTC as a clinically novel gene associated with multiple malformations and developmental delay. 26822784

2016

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR A draft map of the human proteome. 24870542

2014

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR ClinVar: public archive of relationships among sequence variation and human phenotype. 24234437

2014

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR Activities at the Universal Protein Resource (UniProt). 24253303

2014

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. 23911319

2013

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. 22511880

2012

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR Diversity of clathrin function: new tricks for an old protein. 22831640

2012

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR The NCBI BioSystems database. 19854944

2010

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. 20206336

2010

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR The Human Gene Mutation Database: 2008 update. 19348700

2009

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR Inactivation of clathrin heavy chain inhibits synaptic recycling but allows bulk membrane uptake. 18762582

2008

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR Requirement of clathrin heavy chain for p53-mediated transcription. 16618797

2006

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR Clathrin-mediated endocytosis is the dominant mechanism of vesicle retrieval at hippocampal synapses. 16982422

2006

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR Clathrin is required for the function of the mitotic spindle. 15858577

2005

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR The synaptic vesicle cycle. 15217342

2004

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR Nonsense-mediated decay approaches the clinic. 15284851

2004

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release. 11955450

2002

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR Visualizing secretion and synaptic transmission with pH-sensitive green fluorescent proteins. 9671304

1998

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation. 9147638

1997

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR The Drosophila clathrin heavy chain gene: clathrin function is essential in a multicellular organism. 8375651

1993

dbSNP: rs1555605688
rs1555605688
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 GeneticVariation CLINVAR Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles. 1063406

1976