CRMP1, collapsin response mediator protein 1, 1400

N. diseases: 148; N. variants: 42
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0457013
Disease:
Weyers acrofacial dysostosis 		T 0.700 CausalMutation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549 2018
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		T 0.700 CausalMutation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549 2018
dbSNP: rs78226944
rs78226944
Entrez Id: 1400
Gene Symbol: CRMP1
CRMP1
CUI: C4280669
Disease:
Velopharyngeal dysfunction 		0.700 GeneticVariation GWASCAT GWAS reveals loci associated with velopharyngeal dysfunction. 29855589 2018
dbSNP: rs1424976594
rs1424976594
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		G 0.700 GeneticVariation CLINVAR Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. 29321360 2017
dbSNP: rs1262933856
rs1262933856
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 0.700 GeneticVariation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543 2013
dbSNP: rs1424976594
rs1424976594
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		G 0.700 GeneticVariation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543 2013
dbSNP: rs1553873969
rs1553873969
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		GCAGC 0.700 CausalMutation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543 2013
dbSNP: rs753014919
rs753014919
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0457013
Disease:
Weyers acrofacial dysostosis 		G 0.700 CausalMutation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543 2013
dbSNP: rs753014919
rs753014919
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		G 0.700 CausalMutation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543 2013
dbSNP: rs760607210
rs760607210
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		A 0.700 GeneticVariation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543 2013
dbSNP: rs794726665
rs794726665
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		T 0.700 CausalMutation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543 2013
dbSNP: rs35926225
rs35926225
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs35926225
rs35926225
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1553889992
rs1553889992
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		T 0.700 CausalMutation CLINVAR Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates. 20184732 2010
dbSNP: rs35953626
rs35953626
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		0.700 GeneticVariation UNIPROT A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 19744229 2010
dbSNP: rs764397417
rs764397417
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		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: rs779915989
rs779915989
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		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: rs35953626
rs35953626
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		0.700 GeneticVariation UNIPROT Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. 18947413 2008
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		T 0.700 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374 2007
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0457013
Disease:
Weyers acrofacial dysostosis 		T 0.700 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374 2007
dbSNP: rs1553889992
rs1553889992
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		T 0.700 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374 2007
dbSNP: rs753014919
rs753014919
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0457013
Disease:
Weyers acrofacial dysostosis 		G 0.700 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374 2007
dbSNP: rs753014919
rs753014919
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		G 0.700 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374 2007
dbSNP: rs794726665
rs794726665
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		T 0.700 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374 2007
dbSNP: rs909612975
rs909612975
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		G 0.700 GeneticVariation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374 2007