CYLD, CYLD lysine 63 deubiquitinase, 1540

N. diseases: 211; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		0.800 GeneticVariation disease BEFREE We found no CYLD variants but identified an FABP12 variant (rs536105592 G>A) in the patients with both MUHH and MFT. 30809827 2019
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		0.800 Biomarker disease BEFREE More interestingly, EAC treated mice exhibit significant increase in lifespan (~ 2.25 fold) compared to control EAC mice. 31538255 2019
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		0.800 GeneticVariation disease BEFREE Brooke-Spiegler syndrome) carry germline mutations in the tumor suppressor CYLD and develop multiple skin tumors with diverse histophenotypes. 31624251 2019
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		0.800 GeneticVariation disease BEFREE Low-grade spiradenocarcinoma is a rare skin tumor, with fewer than six reported cases, arising in the context of CYLD cutaneous syndrome (CCS; syn: Brooke-Spiegler syndrome [BSS]). 29962004 2018
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		0.800 Biomarker disease BEFREE To identify new fusion transcripts associated with EAC, targeted RNA sequencing and polymerase chain reaction (PCR) verification were performed in 40 EACs and matched nonmalignant specimens from the same patients. 28640357 2017
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		0.800 GeneticVariation disease BEFREE Multiple familial trichoepithelioma type 1 (MFT1; MIM 601606), a rare monogenic skin disease with autosomal dominant inheritance, is characterized by the development of multiple skin-colored papules on the central area of the face, frequently occurring in the nasolabial area. 26861065 2016
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		0.800 GeneticVariation disease BEFREE Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation. 26329847 2016
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		0.800 Biomarker disease BEFREE In a paper recently published in the Journal of Pathology, the research teams led by Neil Rajan and Goran Stenman demonstrate that CYLD-defective cyclindromas in BSS patients are negative for the MYB-NFIB fusion. 27185061 2016
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		0.800 GeneticVariation disease BEFREE A case of Brooke-Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin's lymphoma. 26660106 2016
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		0.800 GeneticVariation disease BEFREE Haplotype analysis was performed for the Spanish patients with MFT1, Dutch patients with FC and an Austrian patient with BSS, all of whom carry the same heterozygous nonsense p.R758X CYLD mutation. 26861065 2016
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		0.800 GeneticVariation disease BEFREE In 1996, the gene locus for BSS was mapped to 16q12-13, and, in 2000, mutations in the cylindromatosis (CYLD) gene were determined to cause BSS, familial cylindromatosis (FC; OMIM 132700) and multiple familial trichoepithelioma type 1 (MFT1; OMIM 601606). 25782638 2015
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		0.800 GeneticVariation disease BEFREE A novel CYLD germline mutation in Brooke-Spiegler syndrome. 25131725 2015
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		0.800 GeneticVariation disease BEFREE Less than 90 germline mutations of CYLD have been identified in patients with BSS/MFT. 25347032 2014
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		0.800 GeneticVariation disease BEFREE Recently, several mutations in the cylindromatosis (CYLD) gene have been reported in MFT. 25234269 2014
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		0.800 GeneticVariation disease 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
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		0.800 GeneticVariation disease BEFREE Less than 90 germline mutations of CYLD have been identified in patients with BSS/MFT. 25347032 2014
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		0.800 GeneticVariation disease BEFREE A new Cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids. 22689134 2013
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		0.800 GeneticVariation disease BEFREE Germline CYLD mutations were found in 43 of the 49 patients with BSS (88%) but in only 8 of 18 MFT cohort (44%). 23249834 2013
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		0.800 GeneticVariation disease BEFREE Recently, several mutations in the cylindromatosis (CYLD) gene have been reported in multiple familial trichoepithelioma (MFT). 22049921 2012
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		0.800 GeneticVariation disease BEFREE A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome. 23171463 2012
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		0.800 GeneticVariation disease BEFREE Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes. 22077640 2012
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		0.800 GeneticVariation disease BEFREE Pathogenic mutations in CYLD can be identified in patients affected with Brooke-Spiegler syndrome, (Familial) Cylindromatosis or multiple familial trichoepithelioma. 20972631 2011
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		0.800 GeneticVariation disease BEFREE Pathogenic mutations in CYLD can be identified in patients affected with Brooke-Spiegler syndrome, (Familial) Cylindromatosis or multiple familial trichoepithelioma. 20972631 2011
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		0.800 GeneticVariation disease BEFREE A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. 19911186 2010
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		0.800 GeneticVariation disease BEFREE Recent investigations support that mutations in CYLD, the gene affected in familial cylindromatosis as well as in Brooke-Spiegler syndrome, are also responsible for multiple trichoepitheliomas. 19929939 2010