CAST, calpastatin, 831

N. diseases: 141; N. variants: 31
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs27524
rs27524
Entrez Id: 831;51752
Gene Symbol: CAST;ERAP1
CAST;ERAP1
CUI: C0033860
Disease:
Psoriasis 		A 0.800 GeneticVariation GWASCAT Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. 25574825 2015
dbSNP: rs27524
rs27524
Entrez Id: 831;51752
Gene Symbol: CAST;ERAP1
CAST;ERAP1
CUI: C0033860
Disease:
Psoriasis 		A 0.800 GeneticVariation GWASDB A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. 20953190 2010
dbSNP: rs27524
rs27524
Entrez Id: 831;51752
Gene Symbol: CAST;ERAP1
CAST;ERAP1
CUI: C0033860
Disease:
Psoriasis 		A 0.800 GeneticVariation GWASCAT A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. 20953190 2010
dbSNP: rs27037
rs27037
Entrez Id: 831
Gene Symbol: CAST
CAST
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.760 GeneticVariation BEFREE There was a significant association between ERAP1 polymorphisms (rs30187 and rs27037) and increased risk of AS susceptibility. 30461632 2018
dbSNP: rs27037
rs27037
Entrez Id: 831
Gene Symbol: CAST
CAST
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.760 GeneticVariation BEFREE Interestingly, the rs27037 polymorphism was significantly associated with AS susceptibility in both European and Asian patients. 27108589 2016
dbSNP: rs27037
rs27037
Entrez Id: 831
Gene Symbol: CAST
CAST
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.760 GeneticVariation BEFREE Moreover, we found three loci of ERAP1 polymorphisms were at a high significance level (rs27037 P = 0.00451; rs27434 P = 0.00012; rs27980 P = 0.00682) with AS in Zhejiang population. 26350268 2016
dbSNP: rs27037
rs27037
Entrez Id: 831
Gene Symbol: CAST
CAST
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.760 GeneticVariation BEFREE The meta-analysis showed that rs27037 and rs30187 were strongly associated with AS (P < 0.00001). 25817437 2015
dbSNP: rs27037
rs27037
Entrez Id: 831
Gene Symbol: CAST
CAST
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.760 GeneticVariation BEFREE Except in rs27434 (P = 0.23), the significant correlation between ERAP1 polymorphisms and AS susceptibility has been detected in rs27044 (OR 1.57, P < 0.001), rs17482078 (OR 1.271, P < 0.001), rs10050860 (OR 0.772, P = 0.006), rs30187 (OR 1.348, P < 0.001), rs2287987 (OR 0.746, P < 0.001) and rs27037 (OR 1.257, P = 0.001). 21229357 2012
dbSNP: rs27037
rs27037
Entrez Id: 831
Gene Symbol: CAST
CAST
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.760 GeneticVariation BEFREE SNPs in TNFRSF1A (rs4149577, p = 8.2 × 10⁻⁴), STAT3 (rs2293152, p = 0.0015; rs1053005, p = 0.017) and ERAP1 (rs27038, p = 0.0091; rs27037, p = 0.0092) were significantly associated with AS in Han Chinese. 21068102 2011
dbSNP: rs27037
rs27037
Entrez Id: 831
Gene Symbol: CAST
CAST
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.760 GeneticVariation GWASDB Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. 20062062 2010
dbSNP: rs786205141
rs786205141
Entrez Id: 831;51752
Gene Symbol: CAST;ERAP1
CAST;ERAP1
CUI: C4225381
Disease:
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 		0.710 GeneticVariation BEFREE In affected individuals with PLACK syndrome from three families of different ethnicities, we identified homozygous mutations (c.607dup, c.424A>T, and c.1750delG) in CAST, all of which were predicted to encode truncated proteins (p.Ile203Asnfs∗8, p.Lys142∗, and p.Val584Trpfs∗37). 25683118 2015
dbSNP: rs786205141
rs786205141
Entrez Id: 831;51752
Gene Symbol: CAST;ERAP1
CAST;ERAP1
CUI: C4225381
Disease:
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 		A 0.710 CausalMutation CLINVAR
dbSNP: rs11951673
rs11951673
Entrez Id: 831;101929710
Gene Symbol: CAST;LOC101929710
CAST;LOC101929710
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs3822683
rs3822683
Entrez Id: 831
Gene Symbol: CAST
CAST
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3822683
rs3822683
Entrez Id: 831
Gene Symbol: CAST
CAST
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs27033
rs27033
Entrez Id: 831;51752
Gene Symbol: CAST;ERAP1
CAST;ERAP1
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs10062657
rs10062657
Entrez Id: 831;101929710
Gene Symbol: CAST;LOC101929710
CAST;LOC101929710
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
dbSNP: rs72772090
rs72772090
Entrez Id: 831
Gene Symbol: CAST
CAST
CUI: C1883008
Disease:
Serum Alanine Aminotransferase Measurement 		G 0.700 GeneticVariation GWASCAT Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy. 28090653 2017
dbSNP: rs72772090
rs72772090
Entrez Id: 831
Gene Symbol: CAST
CAST
CUI: C1961102
Disease:
Precursor Cell Lymphoblastic Leukemia Lymphoma 		G 0.700 GeneticVariation GWASCAT Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy. 28090653 2017
dbSNP: rs72772090
rs72772090
Entrez Id: 831
Gene Symbol: CAST
CAST
CUI: C0201836
Disease:
Alanine aminotransferase measurement 		G 0.700 GeneticVariation GWASCAT Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy. 28090653 2017
dbSNP: rs11951673
rs11951673
Entrez Id: 831;101929710
Gene Symbol: CAST;LOC101929710
CAST;LOC101929710
CUI: C0578022
Disease:
Finding of body mass index 		0.700 GeneticVariation GWASDB Meta-analysis identifies common variants associated with body mass index in east Asians. 22344219 2012
dbSNP: rs11951673
rs11951673
Entrez Id: 831;101929710
Gene Symbol: CAST;LOC101929710
CAST;LOC101929710
CUI: C0005893
Disease:
Body mass index procedure 		0.700 GeneticVariation GWASDB Meta-analysis identifies common variants associated with body mass index in east Asians. 22344219 2012
dbSNP: rs6882366
rs6882366
Entrez Id: 831;101929710
Gene Symbol: CAST;LOC101929710
CAST;LOC101929710
CUI: C0005893
Disease:
Body mass index procedure 		0.700 GeneticVariation GWASDB Meta-analysis identifies common variants associated with body mass index in east Asians. 22344219 2012
dbSNP: rs6882366
rs6882366
Entrez Id: 831;101929710
Gene Symbol: CAST;LOC101929710
CAST;LOC101929710
CUI: C0578022
Disease:
Finding of body mass index 		0.700 GeneticVariation GWASDB Meta-analysis identifies common variants associated with body mass index in east Asians. 22344219 2012
dbSNP: rs786204842
rs786204842
Entrez Id: 831
Gene Symbol: CAST
CAST
CUI: C4225381
Disease:
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 		T 0.700 CausalMutation CLINVAR