Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Inactivation of clathrin heavy chain inhibits synaptic recycling but allows bulk membrane uptake. 18762582

2008
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Activities at the Universal Protein Resource (UniProt). 24253303

2014
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Clathrin-mediated endocytosis is the dominant mechanism of vesicle retrieval at hippocampal synapses. 16982422

2006
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Clathrin is required for the function of the mitotic spindle. 15858577

2005
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Requirement of clathrin heavy chain for p53-mediated transcription. 16618797

2006
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR A draft map of the human proteome. 24870542

2014
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. 22511880

2012
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The synaptic vesicle cycle. 15217342

2004
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR ClinVar: public archive of relationships among sequence variation and human phenotype. 24234437

2014
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR The synaptic vesicle cycle. 15217342

2004
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR The NCBI BioSystems database. 19854944

2010
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles. 1063406

1976
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Activities at the Universal Protein Resource (UniProt). 24253303

2014
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The Human Gene Mutation Database: 2008 update. 19348700

2009
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Diversity of clathrin function: new tricks for an old protein. 22831640

2012
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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