KLHL7, kelch like family member 7, 55975

N. diseases: 135; N. variants: 14
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310742
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		0.600 Biomarker disease GENOMICS_ENGLAND Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. 27392078 2016
CUI: C4310742
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		0.600 GeneticVariation disease UNIPROT Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. 27392078 2016
CUI: C4310742
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		0.600 GeneticVariation disease CLINVAR
CUI: C4310742
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		0.600 CausalMutation disease CLINVAR