Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs144478519
rs144478519
IL36RN
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		T 0.810 CausalMutation CLINVAR IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases. 27220475

2016
dbSNP: rs144478519
rs144478519
IL36RN
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		0.810 GeneticVariation BEFREE Here, we identified a homozygous missense mutation c.338C>T (p.Ser113Leu) in the IL36RN gene in a male patient with ACH, as well as in his sister who had a history of GPP. 23428889

2013
dbSNP: rs144478519
rs144478519
IL36RN
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		0.810 GeneticVariation UNIPROT Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis. 22903787

2013
dbSNP: rs144478519
rs144478519
IL36RN
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		T 0.810 CausalMutation CLINVAR Here, we identified a homozygous missense mutation c.338C>T (p.Ser113Leu) in the IL36RN gene in a male patient with ACH, as well as in his sister who had a history of GPP. 23428889

2013
dbSNP: rs144478519
rs144478519
IL36RN
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		T 0.810 CausalMutation CLINVAR Mutations in IL36RN in patients with generalized pustular psoriasis. 23648549

2013
dbSNP: rs144478519
rs144478519
IL36RN
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		T 0.810 CausalMutation CLINVAR Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes. 23303454

2013
dbSNP: rs144478519
rs144478519
IL36RN
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		0.810 GeneticVariation UNIPROT Mutations in IL36RNIL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis. 21839423

2011
dbSNP: rs144478519
rs144478519
IL36RN
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		0.810 GeneticVariation UNIPROT Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. 21848462

2011
dbSNP: rs144478519
rs144478519
IL36RN
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		T 0.810 CausalMutation CLINVAR Mutations in IL36RNIL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis. 21839423

2011
dbSNP: rs144478519
rs144478519
IL36RN
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.010 GeneticVariation BEFREE Here, we identified a homozygous missense mutation c.338C>T (p.Ser113Leu) in the IL36RN gene in a male patient with ACH, as well as in his sister who had a history of GPP. 23428889

2013