CEP126, centrosomal protein 126, 57562

N. diseases: 12; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865384
Disease: Amyotrophy, monomelic
Amyotrophy, monomelic
0.310 Biomarker disease BEFREE These data suggest that KIAA1377 and C5orf42 synergistically play a role as susceptibility genes for monomelic amyotrophy. 22264561 2012
CUI: C1865384
Disease: Amyotrophy, monomelic
Amyotrophy, monomelic
0.310 SusceptibilityMutation disease ORPHANET These data suggest that KIAA1377 and C5orf42 synergistically play a role as susceptibility genes for monomelic amyotrophy. 22264561 2012
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation
0.100 Biomarker phenotype HPO
CUI: C0040822
Disease: Tremor
Tremor
0.100 Biomarker phenotype HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.100 Biomarker phenotype HPO
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
0.100 Biomarker phenotype HPO
CUI: C1843505
Disease: Degeneration of anterior horn cells
Degeneration of anterior horn cells
0.100 Biomarker phenotype HPO
Abnormality of peripheral nerve conduction
0.100 Biomarker phenotype HPO
CUI: C4021581
Disease: Distal upper limb amyotrophy
Distal upper limb amyotrophy
0.100 Biomarker disease HPO
CUI: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system
0.100 Biomarker disease HPO
Squamous cell carcinoma of esophagus
0.010 Biomarker disease BEFREE Collectively, our data demonstrated that let-7b-5p can directly but negatively regulate KIAA1377 in SCC cell lines, Ecal109, and HeLa cells. 30958603 2019
Secondary malignant neoplasm of lymph node
0.010 Biomarker disease BEFREE KIAA1377 has been found to be linked with lymph node metastasis in esophageal squamous cell carcinoma (SCC) in our previous study; however, the regulation of KIAA1377 remains far from understood. 30958603 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 Biomarker phenotype BEFREE Herein, to understand the regulation of KIAA1377 from the angle of microRNA (miRNA)-messenger RNA (mRNA) modulation in the setting of SCC cells, the basal level of KIAA1377 was determined by quantitative real-time polymerase chain reaction (qRT-PCR) and western blot analysis in KYSE-150 and HeLa cells; biological roles of KIAA1377 contributing in the proliferation, migration, and invasion were evaluated using 3-(4,5-dimethyl-2-thiazolyl)-2,5-diphenyl-2H-tetrazolium bromide (MTT), wound-healing and Transwell assays, respectively, after KIAA1377 was knocked out mediated by the CRISPR-Cas9 system. 30958603 2019