IQCE, IQ motif containing E, 23288

N. diseases: 10; N. variants: 4
Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs753670589
rs753670589
Entrez Id: 23288
Gene Symbol: IQCE
IQCE
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR GLI3-related polydactyly: a review. 28224613 2017
dbSNP: rs753670589
rs753670589
Entrez Id: 23288
Gene Symbol: IQCE
IQCE
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb. 28488682 2017
dbSNP: rs753670589
rs753670589
Entrez Id: 23288
Gene Symbol: IQCE
IQCE
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR High-throughput discovery of novel developmental phenotypes. 27626380 2016
dbSNP: rs753670589
rs753670589
Entrez Id: 23288
Gene Symbol: IQCE
IQCE
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease. 25348401 2015
dbSNP: rs753670589
rs753670589
Entrez Id: 23288
Gene Symbol: IQCE
IQCE
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia. 24582806 2014
dbSNP: rs753670589
rs753670589
Entrez Id: 23288
Gene Symbol: IQCE
IQCE
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR The mechanisms of Hedgehog signalling and its roles in development and disease. 23719536 2013
dbSNP: rs753670589
rs753670589
Entrez Id: 23288
Gene Symbol: IQCE
IQCE
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Patterns and rates of exonic de novo mutations in autism spectrum disorders. 22495311 2012
dbSNP: rs753670589
rs753670589
Entrez Id: 23288
Gene Symbol: IQCE
IQCE
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR A Smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia. 22981989 2012
dbSNP: rs753670589
rs753670589
Entrez Id: 23288
Gene Symbol: IQCE
IQCE
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 19810119 2009
dbSNP: rs753670589
rs753670589
Entrez Id: 23288
Gene Symbol: IQCE
IQCE
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. 18799693 2008
dbSNP: rs753670589
rs753670589
Entrez Id: 23288
Gene Symbol: IQCE
IQCE
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. 9399901 1997
dbSNP: rs753670589
rs753670589
Entrez Id: 23288
Gene Symbol: IQCE
IQCE
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR The cure of childhood cancers. 3719536 1986