WNK1, WNK lysine deficient protein kinase 1, 65125

N. diseases: 460; N. variants: 26
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.600 Biomarker disease GENOMICS_ENGLAND Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2. 16946995 2006
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.600 Biomarker disease GENOMICS_ENGLAND New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2. 16636245 2006
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.600 CausalMutation disease CLINVAR Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. 15911806 2005
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.600 CausalMutation disease CLINVAR Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. 15060842 2004
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.600 Biomarker disease GENOMICS_ENGLAND Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. 15060842 2004
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.600 Biomarker disease GENOMICS_ENGLAND Human hypertension caused by mutations in WNK kinases. 11498583 2001
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.600 Biomarker disease CTD_human