KLHL7, kelch like family member 7, 55975

N. diseases: 135; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255556
rs879255556
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C4310742
Disease:
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		0.800 GeneticVariation UNIPROT Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. 27392078 2016
dbSNP: rs879255558
rs879255558
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C4310742
Disease:
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		0.800 GeneticVariation UNIPROT Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. 27392078 2016
dbSNP: rs137853112
rs137853112
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C2751986
Disease:
RETINITIS PIGMENTOSA 42 		0.800 GeneticVariation UNIPROT Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation. 21828050 2011
dbSNP: rs137853112
rs137853112
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C2751986
Disease:
RETINITIS PIGMENTOSA 42 		0.800 GeneticVariation UNIPROT Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7. 22084217 2011
dbSNP: rs137853113
rs137853113
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C2751986
Disease:
RETINITIS PIGMENTOSA 42 		0.800 GeneticVariation UNIPROT Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation. 21828050 2011
dbSNP: rs137853113
rs137853113
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C2751986
Disease:
RETINITIS PIGMENTOSA 42 		0.800 GeneticVariation UNIPROT Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7. 22084217 2011
dbSNP: rs137853114
rs137853114
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C2751986
Disease:
RETINITIS PIGMENTOSA 42 		0.800 GeneticVariation UNIPROT Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7. 22084217 2011
dbSNP: rs137853114
rs137853114
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C2751986
Disease:
RETINITIS PIGMENTOSA 42 		0.800 GeneticVariation UNIPROT Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation. 21828050 2011
dbSNP: rs137853112
rs137853112
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C2751986
Disease:
RETINITIS PIGMENTOSA 42 		0.800 GeneticVariation UNIPROT Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene. 20547956 2010
dbSNP: rs137853113
rs137853113
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C2751986
Disease:
RETINITIS PIGMENTOSA 42 		0.800 GeneticVariation UNIPROT Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene. 20547956 2010
dbSNP: rs137853114
rs137853114
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C2751986
Disease:
RETINITIS PIGMENTOSA 42 		0.800 GeneticVariation UNIPROT Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene. 20547956 2010
dbSNP: rs137853112
rs137853112
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C2751986
Disease:
RETINITIS PIGMENTOSA 42 		0.800 GeneticVariation UNIPROT Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. 19520207 2009
dbSNP: rs137853113
rs137853113
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C2751986
Disease:
RETINITIS PIGMENTOSA 42 		0.800 GeneticVariation UNIPROT Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. 19520207 2009
dbSNP: rs137853114
rs137853114
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C2751986
Disease:
RETINITIS PIGMENTOSA 42 		0.800 GeneticVariation UNIPROT Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. 19520207 2009
dbSNP: rs137853112
rs137853112
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C2751986
Disease:
RETINITIS PIGMENTOSA 42 		A 0.800 CausalMutation CLINVAR
dbSNP: rs137853113
rs137853113
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C2751986
Disease:
RETINITIS PIGMENTOSA 42 		T 0.800 CausalMutation CLINVAR
dbSNP: rs137853114
rs137853114
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C2751986
Disease:
RETINITIS PIGMENTOSA 42 		A 0.800 CausalMutation CLINVAR
dbSNP: rs780705654
rs780705654
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C4310742
Disease:
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		0.800 GeneticVariation UNIPROT
dbSNP: rs780705654
rs780705654
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C4310742
Disease:
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs879255556
rs879255556
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C4310742
Disease:
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		A 0.800 CausalMutation CLINVAR
dbSNP: rs879255558
rs879255558
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C4310742
Disease:
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1182983579
rs1182983579
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C0035334
Disease:
Retinitis Pigmentosa 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs137853113
rs137853113
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C0035334
Disease:
Retinitis Pigmentosa 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554286384
rs1554286384
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C0035334
Disease:
Retinitis Pigmentosa 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554289078
rs1554289078
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C4310742
Disease:
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		A 0.700 CausalMutation CLINVAR