CCDC50, coiled-coil domain containing 50, 152137

N. diseases: 14; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843895
Disease: Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 44 		0.510 GeneticVariation disease BEFREE Only four genetic midfrequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. 27142990 2016
CUI: C1843895
Disease: Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 44 		0.510 Biomarker disease GENOMICS_ENGLAND A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss. 17503326 2007
CUI: C1843895
Disease: Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 44 		0.510 Biomarker disease CTD_human
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients. 27911912 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System. 27068579 2016
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker phenotype GENOMICS_ENGLAND A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss. 17503326 2007
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN We previously mapped a novel autosomal dominant deafness locus, DFNA44, by studying a family with postlingual, progressive, nonsyndromic hearing loss. 17503326 2007
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 AlteredExpression disease BEFREE Using the transcriptome microarray, genes specific to pDCs (LAMP5, CCDC50) were more highly expressed in BPDCN than in AML specimens. 31811114 2019
CUI: C1301363
Disease: Blastic plasmacytoid dendritic cell neoplasm
Blastic plasmacytoid dendritic cell neoplasm 		0.010 AlteredExpression disease BEFREE Using the transcriptome microarray, genes specific to pDCs (LAMP5, CCDC50) were more highly expressed in BPDCN than in AML specimens. 31811114 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 AlteredExpression disease BEFREE High-throughput sequencing revealed that coiled-coil domain containing 50 (CCDC50) pre-mRNA is aberrantly spliced in 50% of our HCC cases. 30028541 2019
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 Biomarker disease BEFREE Gene knockdown studies revealed CCDC50 as a candidate gene in mantle cell lymphoma and chronic lymphocytic leukemia. 19641524 2009
CUI: C0334634
Disease: Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse 		0.010 Biomarker disease BEFREE Gene knockdown studies revealed CCDC50 as a candidate gene in mantle cell lymphoma and chronic lymphocytic leukemia. 19641524 2009
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.010 GeneticVariation disease BEFREE Two genes, OPA1 and CCDC50, responsible for autosomal dominant optic atrophy and deafness, respectively, may be important for the correct follow-up of the patient. 19324102 2009
CUI: C4551508
Disease: Dominant hereditary optic atrophy
Dominant hereditary optic atrophy 		0.010 GeneticVariation disease BEFREE Two genes, OPA1 and CCDC50, responsible for autosomal dominant optic atrophy and deafness, respectively, may be important for the correct follow-up of the patient. 19324102 2009
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma 		0.010 Biomarker disease BEFREE Gene knockdown and a nuclear factor kappa B (NFkappaB) reporter gene assay revealed that CCDC50 is required for survival in MCL and CLL cells and controls NFkappaB signaling. 19641524 2009
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		0.010 Biomarker disease BEFREE We suggest that DFNA44 hearing loss may result from a time-dependent disorganization of the microtubule-based cytoskeleton in the pillar cells and stria vascularis of the adult auditory system. 17503326 2007