Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083

2017
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR CLTC as a clinically novel gene associated with multiple malformations and developmental delay. 26822784

2016
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR ClinVar: public archive of relationships among sequence variation and human phenotype. 24234437

2014
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Activities at the Universal Protein Resource (UniProt). 24253303

2014
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR A draft map of the human proteome. 24870542

2014
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. 23911319

2013
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Diversity of clathrin function: new tricks for an old protein. 22831640

2012
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. 22511880

2012
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR The NCBI BioSystems database. 19854944

2010
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. 20206336

2010
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR The Human Gene Mutation Database: 2008 update. 19348700

2009
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Inactivation of clathrin heavy chain inhibits synaptic recycling but allows bulk membrane uptake. 18762582

2008
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Requirement of clathrin heavy chain for p53-mediated transcription. 16618797

2006
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Clathrin-mediated endocytosis is the dominant mechanism of vesicle retrieval at hippocampal synapses. 16982422

2006
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Clathrin is required for the function of the mitotic spindle. 15858577

2005
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR The synaptic vesicle cycle. 15217342

2004
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Nonsense-mediated decay approaches the clinic. 15284851

2004
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release. 11955450

2002
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Visualizing secretion and synaptic transmission with pH-sensitive green fluorescent proteins. 9671304

1998
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 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
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR The Drosophila clathrin heavy chain gene: clathrin function is essential in a multicellular organism. 8375651

1993
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles. 1063406

1976