KLHL7, kelch like family member 7, 55975

N. diseases: 135; N. variants: 14
Disease: RETINITIS PIGMENTOSA 42 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42 		0.700 GeneticVariation disease UNIPROT Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7. 22084217 2011
CUI: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42 		0.700 GeneticVariation disease UNIPROT Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation. 21828050 2011
CUI: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42 		0.700 GeneticVariation disease UNIPROT Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene. 20547956 2010
CUI: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42 		0.700 GeneticVariation disease UNIPROT Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. 19520207 2009
CUI: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42 		0.700 CausalMutation disease CLINVAR
CUI: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42 		0.700 Biomarker disease CTD_human