CYLD, CYLD lysine 63 deubiquitinase, 1540

N. diseases: 211; N. variants: 34
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908389
rs121908389
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C1275122
Disease:
Familial multiple trichoepitheliomata 		0.800 GeneticVariation UNIPROT CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. 16922728 2006
dbSNP: rs121908389
rs121908389
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C1275122
Disease:
Familial multiple trichoepitheliomata 		0.800 GeneticVariation UNIPROT Two novel CYLD gene mutations in Chinese families with trichoepithelioma and a literature review of 16 families with trichoepithelioma reported in China. 16307661 2005
dbSNP: rs121908389
rs121908389
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C1857941
Disease:
Brooke-Spiegler syndrome 		0.800 GeneticVariation UNIPROT Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. 15854031 2005
dbSNP: rs121908389
rs121908389
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C1275122
Disease:
Familial multiple trichoepitheliomata 		0.800 GeneticVariation UNIPROT A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. 14632188 2003
dbSNP: rs121908389
rs121908389
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C1857941
Disease:
Brooke-Spiegler syndrome 		0.800 GeneticVariation UNIPROT A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. 14632188 2003
dbSNP: rs121908389
rs121908389
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C1857941
Disease:
Brooke-Spiegler syndrome 		0.800 GeneticVariation UNIPROT Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome. 12950348 2003
dbSNP: rs121908389
rs121908389
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C1857941
Disease:
Brooke-Spiegler syndrome 		0.800 GeneticVariation UNIPROT Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. 12190880 2002
dbSNP: rs121908389
rs121908389
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C1275122
Disease:
Familial multiple trichoepitheliomata 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121908389
rs121908389
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C1857941
Disease:
Brooke-Spiegler syndrome 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121908390
rs121908390
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C1857941
Disease:
Brooke-Spiegler syndrome 		0.720 GeneticVariation BEFREE Brooke-Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLD mutation in Brenner tumor. 24559443 2014
dbSNP: rs121908390
rs121908390
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C1857941
Disease:
Brooke-Spiegler syndrome 		0.720 GeneticVariation BEFREE One patient with BSS revealed a novel missense germline mutation in exon 14 (c. 1961T>A, p. V654E), whereas a living descendant of another deceased patient demonstrated a recurrent nonsense germline mutation in exon 20 (c. 2806C>T, p. R936X). 19194280 2009
dbSNP: rs121908390
rs121908390
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C1857941
Disease:
Brooke-Spiegler syndrome 		T 0.720 CausalMutation CLINVAR
dbSNP: rs2302759
rs2302759
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2302759
rs2302759
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C0010346
Disease:
Crohn Disease 		0.700 GeneticVariation GWASDB Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789 2007
dbSNP: rs3135503
rs3135503
Entrez Id: 1540
Gene Symbol: CYLD
CYLD
CUI: C0010346
Disease:
Crohn Disease 		0.700 GeneticVariation GWASDB Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789 2007
dbSNP: rs6500331
rs6500331
Entrez Id: 1540
Gene Symbol: CYLD
CYLD
CUI: C0010346
Disease:
Crohn Disease 		0.700 GeneticVariation GWASDB Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789 2007
dbSNP: rs7342715
rs7342715
Entrez Id: 1540
Gene Symbol: CYLD
CYLD
CUI: C0010346
Disease:
Crohn Disease 		0.700 GeneticVariation GWASDB Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789 2007
dbSNP: rs751919
rs751919
Entrez Id: 1540;100422972;102724907
Gene Symbol: CYLD;MIR3181;LOC102724907
CYLD;MIR3181;LOC102724907
CUI: C0010346
Disease:
Crohn Disease 		0.700 GeneticVariation GWASDB Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789 2007
dbSNP: rs8060598
rs8060598
Entrez Id: 1540
Gene Symbol: CYLD
CYLD
CUI: C0010346
Disease:
Crohn Disease 		0.700 GeneticVariation GWASDB Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789 2007
dbSNP: rs8062540
rs8062540
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C0010346
Disease:
Crohn Disease 		0.700 GeneticVariation GWASDB Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789 2007
dbSNP: rs121908388
rs121908388
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C1851526
Disease:
Ancell-Spiegler cylindromas 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121908390
rs121908390
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C1851526
Disease:
Ancell-Spiegler cylindromas 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121908390
rs121908390
Entrez Id: 1540;105371251
Gene Symbol: CYLD;LOC105371251
CYLD;LOC105371251
CUI: C1275122
Disease:
Familial multiple trichoepitheliomata 		T 0.700 CausalMutation CLINVAR
dbSNP: rs764952788
rs764952788
Entrez Id: 1540
Gene Symbol: CYLD
CYLD
CUI: C1851526
Disease:
Ancell-Spiegler cylindromas 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886040868
rs886040868
Entrez Id: 1540
Gene Symbol: CYLD
CYLD
CUI: C1851526
Disease:
Ancell-Spiegler cylindromas 		G 0.700 CausalMutation CLINVAR