KLHL7, kelch like family member 7, 55975

N. diseases: 135; N. variants: 14
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
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: 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: 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
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
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.530 GeneticVariation disease BEFREE Biallelic pathogenic variants in KLHL7 are known to result in Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) like phenotype and Bohring-Opitz-like syndrome. 30142437 2019
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.530 GeneticVariation disease BEFREE Mutations in Kelch-like family member 7 (KLHL7) have recently been described as a cause of a constellation of clinical findings with descriptions of both a Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1)-like, as well as a Bohring-Opitz syndrome (BOS)-like presentation. 30300710 2019
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.530 GermlineCausalMutation disease ORPHANET Although these data further support the pathogenic role of KLHL7 mutations in a CS/CISS1-like phenotype, they do not explain all their clinical manifestations and highlight the high phenotypic heterogeneity associated with mutations in KLHL7. 27392078 2016
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.530 GeneticVariation disease BEFREE Although these data further support the pathogenic role of KLHL7 mutations in a CS/CISS1-like phenotype, they do not explain all their clinical manifestations and highlight the high phenotypic heterogeneity associated with mutations in KLHL7. 27392078 2016
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.530 Biomarker disease CTD_human
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