CLDN10, claudin 10, 9071

N. diseases: 62; N. variants: 7
Disease: HELIX SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4522164
Disease: HELIX SYNDROME
HELIX SYNDROME 		0.610 GeneticVariation disease BEFREE Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. 28771254 2018
CUI: C4522164
Disease: HELIX SYNDROME
HELIX SYNDROME 		0.610 GeneticVariation disease UNIPROT Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. 28771254 2018
CUI: C4522164
Disease: HELIX SYNDROME
HELIX SYNDROME 		0.610 GeneticVariation disease UNIPROT Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. 28686597 2017
CUI: C4522164
Disease: HELIX SYNDROME
HELIX SYNDROME 		0.610 Biomarker disease GENOMICS_ENGLAND A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. 19307729 2009
CUI: C4522164
Disease: HELIX SYNDROME
HELIX SYNDROME 		0.610 CausalMutation disease CLINVAR