KLHL7, kelch like family member 7, 55975

N. diseases: 135; N. variants: 14
Disease: COLD-INDUCED SWEATING SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848947
Disease: COLD-INDUCED SWEATING SYNDROME 1
COLD-INDUCED SWEATING SYNDROME 1 		0.600 GermlineCausalMutation disease ORPHANET Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. 27392078 2016
CUI: C1848947
Disease: COLD-INDUCED SWEATING SYNDROME 1
COLD-INDUCED SWEATING SYNDROME 1 		0.600 CausalMutation disease CLINVAR
CUI: C1848947
Disease: COLD-INDUCED SWEATING SYNDROME 1
COLD-INDUCED SWEATING SYNDROME 1 		0.600 Biomarker disease CTD_human