CDC14A, cell division cycle 14A, 8556

N. diseases: 26; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837608
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 32
DEAFNESS, AUTOSOMAL RECESSIVE 32 		0.700 GeneticVariation disease UNIPROT CDC14A phosphatase is essential for hearing and male fertility in mouse and human. 29293958 2018
CUI: C1837608
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 32
DEAFNESS, AUTOSOMAL RECESSIVE 32 		0.700 GeneticVariation disease UNIPROT Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness. 27259055 2016
CUI: C1837608
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 32
DEAFNESS, AUTOSOMAL RECESSIVE 32 		0.700 GeneticVariation disease CLINVAR CDC14A phosphatase is essential for hearing and male fertility in mouse and human. 29293958 2018
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 GeneticVariation disease BEFREE Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1. 12634867 2003
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 GeneticVariation disease BEFREE Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. 18179891 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.310 GeneticVariation disease BEFREE The CDC14A and MTMR3 mutations detected in the GC and CRC were deletion or duplication mutations of one base in the nucleotide repeats that would result in premature stops of the amino acid syntheses. 20477815 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.310 GeneticVariation disease UNIPROT
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.110 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 GeneticVariation phenotype BEFREE Two families with recessive ESRRB mutations and DFNB35 hearing impairment showed more extensive dental destruction by caries. 25023176 2014
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 GeneticVariation group BEFREE We also identified a molecular signature for the presence of immunoglobulin variable heavy chain somatic mutation, which includes a number of genes potentially relevant in cancer (CDC14A, ras, and others). 14678979 2003
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 GeneticVariation group BEFREE We found CDC14A and MTMR3 mutations in five and one cancer (s), respectively. 20477815 2010
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 GeneticVariation group BEFREE We also identified a molecular signature for the presence of immunoglobulin variable heavy chain somatic mutation, which includes a number of genes potentially relevant in cancer (CDC14A, ras, and others). 14678979 2003
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 GeneticVariation group BEFREE We found CDC14A and MTMR3 mutations in five and one cancer (s), respectively. 20477815 2010
CUI: C0011334
Disease: Dental caries
Dental caries 		0.010 GeneticVariation disease BEFREE Two families with recessive ESRRB mutations and DFNB35 hearing impairment showed more extensive dental destruction by caries. 25023176 2014
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 GeneticVariation disease BEFREE The CDC14A and MTMR3 mutations detected in the GC and CRC were deletion or duplication mutations of one base in the nucleotide repeats that would result in premature stops of the amino acid syntheses. 20477815 2010
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		0.010 GeneticVariation disease BEFREE Linkage analysis indicates that in this family the NSHL locus, (DFNB35) maps to a 17.54 cM region on chromosome 14 flanked by markers D14S57 and D14S59. 12529709 2003
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		0.010 GeneticVariation disease BEFREE Two families with recessive ESRRB mutations and DFNB35 hearing impairment showed more extensive dental destruction by caries. 25023176 2014
CUI: C1837608
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 32
DEAFNESS, AUTOSOMAL RECESSIVE 32 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness. 27259055 2016
CUI: C1837608
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 32
DEAFNESS, AUTOSOMAL RECESSIVE 32 		0.700 Biomarker disease CTD_human Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness. 27259055 2016
CUI: C1837608
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 32
DEAFNESS, AUTOSOMAL RECESSIVE 32 		0.700 Biomarker disease CTD_human CDC14A phosphatase is essential for hearing and male fertility in mouse and human. 29293958 2018
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN CDC14A phosphatase is essential for hearing and male fertility in mouse and human. 29293958 2018
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.300 Biomarker disease CTD_human CDC14A phosphatase is essential for hearing and male fertility in mouse and human. 29293958 2018
CUI: C0011053
Disease: Deafness
Deafness 		0.300 Biomarker phenotype CTD_human Auditory hair cells of postnatal Cdc14a mutants develop normally, but subsequently degenerate causing deafness. 29293958 2018
CUI: C0021364
Disease: Male infertility
Male infertility 		0.300 Biomarker phenotype CTD_human CDC14A phosphatase is essential for hearing and male fertility in mouse and human. 29293958 2018