WNK1, WNK lysine deficient protein kinase 1, 65125

N. diseases: 460; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer
0.010 GeneticVariation phenotype BEFREE Hereditary sensory and autonomic neuropathy (HSAN) type II with WNK1/HSN2 gene mutation is a rare disease characterized by early-onset demyelination sensory loss and skin ulceration. 27765018 2016