Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. 15949009

2005
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. 11531804

2001
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens. 11167982

2000
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens. 10620137

2000
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens. 10688369

2000
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens. 10084318

1999
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature. 10233323

1999
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene. 10564334

1999
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens. 9804344

1998
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens. 9833038

1998
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT A novel threonine --> proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens. 9204966

1997
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT A new keratin 2e mutation in ichthyosis bullosa of Siemens. 9036938

1997
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. 8077693

1994
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT Ichthyosis bullosa of Siemens--a disease involving keratin 2e. 7521371

1994
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. 7524919

1994
dbSNP: rs137852629
rs137852629
KRT2
T 0.800 CausalMutation CLINVAR