Disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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