ADAM19, ADAM metallopeptidase domain 19, 8728

N. diseases: 45; N. variants: 27
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.100 CausalMutation disease CLINVAR Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis. 26762237 2016
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.100 CausalMutation disease CLINVAR Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis. 24397709 2015
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.100 CausalMutation disease CLINVAR Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations. 25458912 2015
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		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
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		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
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.100 CausalMutation disease CLINVAR Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. 17557927 2007
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		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