×
Entrez Id:
348938
Gene Symbol:
NIPAL4
NIPAL4
0.700
CausalMutation
disease
CLINVAR
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
26762237
2016
×
Entrez Id:
348938
Gene Symbol:
NIPAL4
NIPAL4
0.700
GeneticVariation
disease
UNIPROT
Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis.
26456858
2016
×
Entrez Id:
348938
Gene Symbol:
NIPAL4
NIPAL4
0.700
CausalMutation
disease
CLINVAR
Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.
25458912
2015
×
Entrez Id:
348938
Gene Symbol:
NIPAL4
NIPAL4
0.700
CausalMutation
disease
CLINVAR
Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis.
24397709
2015
×
Entrez Id:
348938
Gene Symbol:
NIPAL4
NIPAL4
0.700
CausalMutation
disease
CLINVAR
The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis.
22622417
2012
×
Entrez Id:
348938
Gene Symbol:
NIPAL4
NIPAL4
0.700
CausalMutation
disease
CLINVAR
NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis.
20016120
2010
×
Entrez Id:
348938
Gene Symbol:
NIPAL4
NIPAL4
0.700
CausalMutation
disease
CLINVAR
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.
17557927
2007
×
Entrez Id:
348938
Gene Symbol:
NIPAL4
NIPAL4
0.700
GeneticVariation
disease
UNIPROT
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.
17557927
2007
×
Entrez Id:
348938
Gene Symbol:
NIPAL4
NIPAL4
0.700
GeneticVariation
disease
UNIPROT
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.
15317751
2004
×
Entrez Id:
348938
Gene Symbol:
NIPAL4
NIPAL4
0.700
CausalMutation
disease
CLINVAR
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.
15317751
2004
×
Entrez Id:
348938
Gene Symbol:
NIPAL4
NIPAL4
0.700
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
348938
Gene Symbol:
NIPAL4
NIPAL4
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
8728
Gene Symbol:
ADAM19
ADAM19
0.100
CausalMutation
disease
CLINVAR
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
26762237
2016
×
Entrez Id:
8728
Gene Symbol:
ADAM19
ADAM19
0.100
CausalMutation
disease
CLINVAR
Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis.
24397709
2015
×
Entrez Id:
8728
Gene Symbol:
ADAM19
ADAM19
0.100
CausalMutation
disease
CLINVAR
Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.
25458912
2015
×
Entrez Id:
8728
Gene Symbol:
ADAM19
ADAM19
0.100
CausalMutation
disease
CLINVAR
The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis.
22622417
2012
×
Entrez Id:
8728
Gene Symbol:
ADAM19
ADAM19
0.100
CausalMutation
disease
CLINVAR
NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis.
20016120
2010
×
Entrez Id:
8728
Gene Symbol:
ADAM19
ADAM19
0.100
CausalMutation
disease
CLINVAR
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.
17557927
2007
×
Entrez Id:
8728
Gene Symbol:
ADAM19
ADAM19
0.100
CausalMutation
disease
CLINVAR
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.
15317751
2004