SERPINB8, serpin family B member 8, 5271

N. diseases: 10; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838440
Disease: ICHTHYOSIS EXFOLIATIVA
ICHTHYOSIS EXFOLIATIVA 		0.510 Biomarker disease BEFREE In conclusion, we report mutations in SERPINB8 that are associated with exfoliative ichthyosis and provide evidence that SERPINB8 contributes to the mechanical stability of intercellular adhesions in the epidermis. 27476651 2016
CUI: C1838440
Disease: ICHTHYOSIS EXFOLIATIVA
ICHTHYOSIS EXFOLIATIVA 		0.510 GermlineCausalMutation disease ORPHANET In conclusion, we report mutations in SERPINB8 that are associated with exfoliative ichthyosis and provide evidence that SERPINB8 contributes to the mechanical stability of intercellular adhesions in the epidermis. 27476651 2016
CUI: C1838440
Disease: ICHTHYOSIS EXFOLIATIVA
ICHTHYOSIS EXFOLIATIVA 		0.510 Biomarker disease CLINGEN In conclusion, we report mutations in SERPINB8 that are associated with exfoliative ichthyosis and provide evidence that SERPINB8 contributes to the mechanical stability of intercellular adhesions in the epidermis. 27476651 2016
CUI: C1838440
Disease: ICHTHYOSIS EXFOLIATIVA
ICHTHYOSIS EXFOLIATIVA 		0.510 Biomarker disease CLINGEN Distribution of the human intracellular serpin protease inhibitor 8 in human tissues. 12417609 2002
CUI: C4310710
Disease: PEELING SKIN SYNDROME 5
PEELING SKIN SYNDROME 5 		0.400 Biomarker disease GENOMICS_ENGLAND Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions. 27476651 2016
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.400 Biomarker disease CTD_human We identified six new susceptibility loci associated with psoriasis in the Chinese study containing the candidate genes ERAP1, PTTG1, CSMD1, GJB2, SERPINB8 and ZNF816A (combined P < 5 × 10⁻⁸) and replicated one locus, 5q33.1 (TNIP1-ANXA6), previously reported (combined P = 3.8 × 10⁻²¹) in the European studies. 20953187 2010
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.400 GeneticVariation disease GWASDB We identified six new susceptibility loci associated with psoriasis in the Chinese study containing the candidate genes ERAP1, PTTG1, CSMD1, GJB2, SERPINB8 and ZNF816A (combined P < 5 × 10⁻⁸) and replicated one locus, 5q33.1 (TNIP1-ANXA6), previously reported (combined P = 3.8 × 10⁻²¹) in the European studies. 20953187 2010
CUI: C4310710
Disease: PEELING SKIN SYNDROME 5
PEELING SKIN SYNDROME 5 		0.400 CausalMutation disease CLINVAR
CUI: C4310710
Disease: PEELING SKIN SYNDROME 5
PEELING SKIN SYNDROME 5 		0.400 GeneticVariation disease CLINVAR
CUI: C0030246
Disease: Pustulosis of Palms and Soles
Pustulosis of Palms and Soles 		0.300 Biomarker disease CTD_human Association analyses identify six new psoriasis susceptibility loci in the Chinese population. 20953187 2010
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		0.300 Biomarker disease CTD_human
CUI: C0221270
Disease: Acanthosis
Acanthosis 		0.100 Biomarker phenotype HPO
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		0.100 Biomarker disease HPO
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 GeneticVariation disease BEFREE Analyses stratified by smoking found genetic associations largely restricted to nonsmokers, with one notable exception: the chromosome 18q22.1 intergenic SNP rs17073641 (between SERPINB8 and CDH7), more strongly associated in nonsmokers (OR = 0.57, P = 2.73 × 10(-5) ), with an inverse association among smokers (OR = 1.42, P = 0.00228), suggesting that smoking modifies the effect of some genetic polymorphisms on AMD risk. 23577725 2013
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		0.010 GeneticVariation disease BEFREE We provide the first independent replication for COG6 (P = 0.00079) and SERPINB8 (P = 0.048) loci with PsV. 22814393 2012