Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. | 29100083 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Prevalence and architecture of de novo mutations in developmental disorders. | 28135719 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | CLTC as a clinically novel gene associated with multiple malformations and developmental delay. | 26822784 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Activities at the Universal Protein Resource (UniProt). | 24253303 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | A draft map of the human proteome. | 24870542 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | ClinVar: public archive of relationships among sequence variation and human phenotype. | 24234437 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. | 23911319 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. | 22511880 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Diversity of clathrin function: new tricks for an old protein. | 22831640 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. | 20206336 | 2010 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The NCBI BioSystems database. | 19854944 | 2010 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The Human Gene Mutation Database: 2008 update. | 19348700 | 2009 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Inactivation of clathrin heavy chain inhibits synaptic recycling but allows bulk membrane uptake. | 18762582 | 2008 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Clathrin-mediated endocytosis is the dominant mechanism of vesicle retrieval at hippocampal synapses. | 16982422 | 2006 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Requirement of clathrin heavy chain for p53-mediated transcription. | 16618797 | 2006 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Clathrin is required for the function of the mitotic spindle. | 15858577 | 2005 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The synaptic vesicle cycle. | 15217342 | 2004 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Nonsense-mediated decay approaches the clinic. | 15284851 | 2004 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release. | 11955450 | 2002 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Visualizing secretion and synaptic transmission with pH-sensitive green fluorescent proteins. | 9671304 | 1998 | |||||
Dysmorphic features
|
0.700 | CausalMutation | 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 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The Drosophila clathrin heavy chain gene: clathrin function is essential in a multicellular organism. | 8375651 | 1993 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles. | 1063406 | 1976 |