KLHL24, kelch like family member 24, 54800

N. diseases: 17; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310631
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS 		0.700 GermlineCausalMutation disease ORPHANET Burnlike scars: A sign suggestive of KLHL24-related epidermolysis bullosa simplex. 29574966 2018
CUI: C4310631
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS 		0.700 GermlineCausalMutation disease ORPHANET "The ""Kelch"" Surprise: KLHL24, a New Player in the Pathogenesis of Skin Fragility." 28532758 2017
CUI: C4310631
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS 		0.700 Biomarker disease CLINGEN Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility. 27889062 2016
CUI: C4310631
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS 		0.700 GermlineCausalMutation disease ORPHANET Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. 27798626 2016
CUI: C4310631
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS 		0.700 Biomarker disease CLINGEN Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. 27798626 2016
CUI: C4310631
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS 		0.700 GermlineCausalMutation disease ORPHANET Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility. 27889062 2016
CUI: C4310631
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS 		0.700 CausalMutation disease CLINVAR
CUI: C4310631
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS 		0.700 Biomarker disease CTD_human
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		0.100 CausalMutation disease CLINVAR Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility. 27889062 2016
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		0.100 CausalMutation disease CLINVAR Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. 27798626 2016
CUI: C0241181
Disease: Fragile skin
Fragile skin 		0.100 CausalMutation phenotype CLINVAR Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. 27798626 2016
CUI: C0241181
Disease: Fragile skin
Fragile skin 		0.100 CausalMutation phenotype CLINVAR Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility. 27889062 2016
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse 		0.100 Biomarker disease HPO
CUI: C0574769
Disease: Loss of scalp hair
Loss of scalp hair 		0.100 Biomarker phenotype HPO
CUI: C1833225
Disease: Dystrophic toenail
Dystrophic toenail 		0.100 Biomarker phenotype HPO
CUI: C1862863
Disease: Sparse body hair
Sparse body hair 		0.100 Biomarker phenotype HPO
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		0.030 GeneticVariation disease BEFREE KLHL24 mutations have recently been associated with epidermolysis bullosa simplex. 30579426 2019
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		0.030 Biomarker disease BEFREE We describe a case of KLHL24-related epidermolysis bullosa simplex and highlight the burn-like pattern of scars. 29574966 2018
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		0.030 Biomarker disease BEFREE A new protein, kelch-like 24, has recently been associated with a distinct subtype of epidermolysis bullosa simplex, a heterogeneous group of disorders associated with mechanical fragility of epidermal keratinocytes. 28532758 2017
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 AlteredExpression phenotype BEFREE Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24. 30715372 2019
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.010 GeneticVariation group BEFREE However, the picture of KLHL24 mutations causing extracutaneous human disease is emerging, with dilated cardiomyopathy as a strong association. 30579426 2019
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 Biomarker disease BEFREE Knock-down of the zebrafish homologue klhl24a results in heart defects similar to that described for other HCM-linked genes providing additional support for KLHL24 as a HCM-associated gene. 30715372 2019
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.010 Biomarker group BEFREE Knock-down of the zebrafish homologue klhl24a results in heart defects similar to that described for other HCM-linked genes providing additional support for KLHL24 as a HCM-associated gene. 30715372 2019