rs121908387, SPINK5

N. diseases: 1
Disease: Ichthyosis linearis circumflexa ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ichthyosis linearis circumflexa
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
0.710 GeneticVariation BEFREE DNA analysis showed that the patient harboured the compound heterozygous mutations R790X and 1220+1 G-->C in the SPINK5 gene, compatible with the diagnosis of Netherton syndrome (NS). 16120162 2005
Ichthyosis linearis circumflexa
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
0.710 CausalMutation CLINVAR