KLHL7, kelch like family member 7, 55975

N. diseases: 135; N. variants: 14
Disease: Retinitis Pigmentosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 GeneticVariation disease BEFREE Recent studies have revealed that mutations in klhl7 gene cause several disorders, such as retinitis pigmentosa (RP). 29032201 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 GeneticVariation disease BEFREE Retinitis pigmentosa was also present in two surviving children reported here carrying bi-allelic KLHL7 mutations. 27392078 2016
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 GeneticVariation disease BEFREE Here, we describe an adRP locus (RP42) at chromosome 7p15 through linkage analysis in a six-generation Scandinavian family and identify a disease-causing mutation, c.449G-->A (p.S150N), in exon 6 of the KLHL7 gene. 19520207 2009
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 Biomarker disease GENOMICS_ENGLAND
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 GeneticVariation disease CLINVAR