Gene: KLHL7 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7 		0.040 GeneticVariation disease BEFREE Mono-allelic substitutions in other domains of KLHL7 have been reported in three families affected by a late-onset form of autosomal-dominant retinitis pigmentosa. 27392078 2016
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7 		0.040 GeneticVariation disease BEFREE An adRP-causative missense mutation in the BACK domain of KLHL7 attenuated only the Cul3 interaction but not dimerization. 21828050 2011
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7 		0.040 GeneticVariation disease BEFREE We report a phenotypic assessment of 3 unrelated families, each harboring different KLHL7 mutations (c.458C>T, c.449G>A, and c.457G>A).The fundi showed classic signs of RP. 22084217 2011
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7 		0.040 GeneticVariation disease BEFREE Observed in 2 Scandinavian families to date, KLHL7 mutation has recently been associated with autosomal dominant retinitis pigmentosa. 20547956 2010