ADAM19, ADAM metallopeptidase domain 19, 8728

N. diseases: 45; N. variants: 27
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370356566
rs370356566
Entrez Id: 8728;348938
Gene Symbol: ADAM19;NIPAL4
ADAM19;NIPAL4
CUI: C2677065
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.800 GeneticVariation UNIPROT Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. 26456858 2016
dbSNP: rs11740562
rs11740562
Entrez Id: 8728
Gene Symbol: ADAM19
ADAM19
CUI: C0033975
Disease:
Psychotic Disorders 		0.800 GeneticVariation GWASCAT A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
dbSNP: rs11740562
rs11740562
Entrez Id: 8728
Gene Symbol: ADAM19
ADAM19
CUI: C0033975
Disease:
Psychotic Disorders 		C 0.800 GeneticVariation GWASDB A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
dbSNP: rs11740562
rs11740562
Entrez Id: 8728
Gene Symbol: ADAM19
ADAM19
CUI: C0004936
Disease:
Mental disorders 		0.800 GeneticVariation GWASCAT A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
dbSNP: rs11740562
rs11740562
Entrez Id: 8728
Gene Symbol: ADAM19
ADAM19
CUI: C0004936
Disease:
Mental disorders 		C 0.800 GeneticVariation GWASDB A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
dbSNP: rs370356566
rs370356566
Entrez Id: 8728;348938
Gene Symbol: ADAM19;NIPAL4
ADAM19;NIPAL4
CUI: C2677065
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		A 0.800 CausalMutation CLINVAR Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. 17557927 2007
dbSNP: rs370356566
rs370356566
Entrez Id: 8728;348938
Gene Symbol: ADAM19;NIPAL4
ADAM19;NIPAL4
CUI: C2677065
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.800 GeneticVariation UNIPROT Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. 17557927 2007
dbSNP: rs370356566
rs370356566
Entrez Id: 8728;348938
Gene Symbol: ADAM19;NIPAL4
ADAM19;NIPAL4
CUI: C2677065
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.800 GeneticVariation UNIPROT Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. 15317751 2004
dbSNP: rs10866659
rs10866659
Entrez Id: 8728
Gene Symbol: ADAM19
ADAM19
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		G 0.700 GeneticVariation GWASCAT Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. 30804561 2019
dbSNP: rs11134766
rs11134766
Entrez Id: 8728
Gene Symbol: ADAM19
ADAM19
CUI: C1518922
Disease:
peak expiratory flow (procedure) 		T 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
dbSNP: rs11134766
rs11134766
Entrez Id: 8728
Gene Symbol: ADAM19
ADAM19
CUI: C0016529
Disease:
Forced expiratory volume function 		T 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
dbSNP: rs11134789
rs11134789
Entrez Id: 8728
Gene Symbol: ADAM19
ADAM19
CUI: C1518922
Disease:
peak expiratory flow (procedure) 		A 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
dbSNP: rs11134789
rs11134789
Entrez Id: 8728
Gene Symbol: ADAM19
ADAM19
CUI: C0016529
Disease:
Forced expiratory volume function 		A 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
dbSNP: rs11465228
rs11465228
Entrez Id: 8728
Gene Symbol: ADAM19
ADAM19
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		T 0.700 GeneticVariation GWASCAT Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. 30804561 2019
dbSNP: rs72811310
rs72811310
Entrez Id: 8728
Gene Symbol: ADAM19
ADAM19
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		T 0.700 GeneticVariation GWASCAT Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. 30804561 2019
dbSNP: rs7728609
rs7728609
Entrez Id: 8728
Gene Symbol: ADAM19
ADAM19
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs113897301
rs113897301
Entrez Id: 8728
Gene Symbol: ADAM19
ADAM19
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		0.700 GeneticVariation GWASCAT Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. 28166215 2017
dbSNP: rs199422217
rs199422217
Entrez Id: 8728;348938
Gene Symbol: ADAM19;NIPAL4
ADAM19;NIPAL4
CUI: C2677065
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		A 0.700 CausalMutation CLINVAR Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis. 26762237 2016
dbSNP: rs775903553
rs775903553
Entrez Id: 8728;348938
Gene Symbol: ADAM19;NIPAL4
ADAM19;NIPAL4
CUI: C2677065
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 GeneticVariation UNIPROT Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. 26456858 2016
dbSNP: rs199422217
rs199422217
Entrez Id: 8728;348938
Gene Symbol: ADAM19;NIPAL4
ADAM19;NIPAL4
CUI: C2677065
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		A 0.700 CausalMutation CLINVAR Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis. 24397709 2015
dbSNP: rs199422217
rs199422217
Entrez Id: 8728;348938
Gene Symbol: ADAM19;NIPAL4
ADAM19;NIPAL4
CUI: C2677065
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		A 0.700 CausalMutation CLINVAR Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations. 25458912 2015
dbSNP: rs199422217
rs199422217
Entrez Id: 8728;348938
Gene Symbol: ADAM19;NIPAL4
ADAM19;NIPAL4
CUI: C2677065
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		A 0.700 CausalMutation 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
dbSNP: rs2277027
rs2277027
Entrez Id: 8728
Gene Symbol: ADAM19
ADAM19
CUI: C0035227
Disease:
Respiratory Function Tests 		0.700 GeneticVariation GWASCAT Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 23284291 2012
dbSNP: rs2277027
rs2277027
Entrez Id: 8728
Gene Symbol: ADAM19
ADAM19
CUI: C0016529
Disease:
Forced expiratory volume function 		0.700 GeneticVariation GWASDB Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 23284291 2012
dbSNP: rs10078178
rs10078178
Entrez Id: 8728
Gene Symbol: ADAM19
ADAM19
CUI: C3160731
Disease:
Pulmonary function (finding) 		0.700 GeneticVariation GWASDB Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. 20010835 2010