Gene: CLTC ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR A draft map of the human proteome. 24870542

2014
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR A draft map of the human proteome. 24870542

2014
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR Activities at the Universal Protein Resource (UniProt). 24253303

2014
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR Activities at the Universal Protein Resource (UniProt). 24253303

2014
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR Clathrin is required for the function of the mitotic spindle. 15858577

2005
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR Clathrin is required for the function of the mitotic spindle. 15858577

2005
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR Clathrin-mediated endocytosis is the dominant mechanism of vesicle retrieval at hippocampal synapses. 16982422

2006
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR Clathrin-mediated endocytosis is the dominant mechanism of vesicle retrieval at hippocampal synapses. 16982422

2006
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles. 1063406

1976
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles. 1063406

1976
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR ClinVar: public archive of relationships among sequence variation and human phenotype. 24234437

2014
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR ClinVar: public archive of relationships among sequence variation and human phenotype. 24234437

2014
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR CLTC as a clinically novel gene associated with multiple malformations and developmental delay. 26822784

2016
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR CLTC as a clinically novel gene associated with multiple malformations and developmental delay. 26822784

2016
dbSNP: rs1555605688
rs1555605688
CLTC
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: rs797044884
rs797044884
CLTC ; PTRH2
AAG 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
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR Diversity of clathrin function: new tricks for an old protein. 22831640

2012
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR Diversity of clathrin function: new tricks for an old protein. 22831640

2012
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release. 11955450

2002
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release. 11955450

2002
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083

2017
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083

2017
dbSNP: rs1555605688
rs1555605688
CLTC
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: rs797044884
rs797044884
CLTC ; PTRH2
AAG 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
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR Inactivation of clathrin heavy chain inhibits synaptic recycling but allows bulk membrane uptake. 18762582

2008