PEELING SKIN SYNDROME 5
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
PEELING SKIN SYNDROME 5
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
PEELING SKIN SYNDROME
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Acanthosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hyperkeratosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hyperkeratosis, CTCAE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
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 |
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 |
ICHTHYOSIS EXFOLIATIVA
|
0.510 |
Biomarker
|
disease |
CLINGEN |
Distribution of the human intracellular serpin protease inhibitor 8 in human tissues.
|
12417609 |
2002 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |