ALPK1, alpha kinase 1, 80216

N. diseases: 54; N. variants: 10
Disease: ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1052954321
rs1052954321
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C4225670
Disease:
ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS 		T 0.700 GeneticVariation CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659 2019