rs397518475
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
Cole disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.
|
28964717 |
2018 |
rs397518476
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
Cole disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.
|
28964717 |
2018 |
rs397518477
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
Cole disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.
|
28964717 |
2018 |
rs121918024
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
|
27467858 |
2016 |
rs121918025
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
|
27467858 |
2016 |
rs121918026
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
|
27467858 |
2016 |
rs373044722
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
|
27467858 |
2016 |
rs374270497
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
|
27467858 |
2016 |
rs374270497
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
A |
0.800 |
CausalMutation |
CLINVAR |
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
|
27467858 |
2016 |
rs387906673
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
|
27467858 |
2016 |
rs397518475
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
Cole disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient.
|
26617416 |
2016 |
rs397518476
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
Cole disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient.
|
26617416 |
2016 |
rs397518477
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
Cole disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient.
|
26617416 |
2016 |
rs121908248
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
Hypophosphatemic Rickets, Autosomal Recessive, 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.
|
25741938 |
2015 |
rs121908249
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
Hypophosphatemic Rickets, Autosomal Recessive, 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.
|
25741938 |
2015 |
rs397518475
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
Cole disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cole Disease Results from Mutations in ENPP1.
|
24075184 |
2013 |
rs397518476
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
Cole disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cole Disease Results from Mutations in ENPP1.
|
24075184 |
2013 |
rs397518477
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
Cole disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cole Disease Results from Mutations in ENPP1.
|
24075184 |
2013 |
rs121918024
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
|
22209248 |
2012 |
rs121918025
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
|
22209248 |
2012 |
rs121918026
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
|
22209248 |
2012 |
rs373044722
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
|
22209248 |
2012 |
rs374270497
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
|
22209248 |
2012 |
rs387906673
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
|
22209248 |
2012 |
rs121918024
|
Entrez Id: |
5167 |
Gene Symbol: |
ENPP1 |
ENPP1
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1.
|
23430823 |
2011 |