Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.310 Biomarker disease CLINGEN Distinct Expression Pattern of a Deafness Gene, KIAA1199, in a Primate Cochlea. 27403418 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.310 Biomarker disease CLINGEN The localization of proteins encoded by CRYM, KIAA1199, UBA52, COL9A3, and COL9A1, genes highly expressed in the cochlea. 18448257 2008
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.310 AlteredExpression disease BEFREE Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing loss. 14577002 2003
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.310 Biomarker disease CLINGEN Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing loss. 14577002 2003
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE BACKGROUND KIAA1199 has been reported to be associated with malignant progression and poor clinical outcomes in various human malignancies. 31501407 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Tumour exosomal CEMIP protein promotes cancer cell colonization in brain metastasis. 31685984 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 Biomarker phenotype BEFREE Silencing of CEMIP in ovarian cancer cell lines A2780 and OVCAR3 significantly decreased cell proliferation, cell migration and invasion capacity, while the proportion of apoptotic cells was increased. 30925458 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 Biomarker phenotype BEFREE KIAA1199 promotes invasion and migration in NSCLC via PI3K-Akt mediated EMT. 30478628 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 Biomarker phenotype BEFREE CEMIP (for "Cell migration-inducing protein" also called KIAA1199 and Hybid for "Hyaluronan-binding protein") expression is increased in cancers and described as a regulator of cell survival, growth and invasion. 30718510 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 Biomarker phenotype BEFREE Furthermore, a microtubule-stabilizing drug paclitaxel could prevent KIAA1199-induced microtubule destabilization, and inhibit cell migration and invasion in vitro and tumor metastasis in vivo in colorectal cancer. 30202098 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 Biomarker phenotype BEFREE Additionally, bioinformatic analysis indicated that KIAA1199 was involved in cell migration and invasion. 31501407 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 AlteredExpression group BEFREE Targeting this node may provide a promising avenue for treatment of colon cancers that have acquired resistance to targeted therapies.<b>Significance:</b> MEK1 inhibitor-resistant colorectal cancer relies on the scaffold and endosomal protein CEMIP to maintain ERK1/2 signaling and Myc-driven transcription.<i>Cancer Res; 78(16); 4533-48.©2018 AACR</i>. 29915160 2018
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
Creatinine measurement, serum (procedure)
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 AlteredExpression phenotype BEFREE KIAA1199 overexpression promoted CRC cell migration and invasion, which reversed the inhibition effect of miR-600 mimic on migration and invasion of CRC cells. 29776371 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 Biomarker phenotype BEFREE Moreover, knockdown of KIAA1199 via sustainable RNAi affected a broad range of cellular functions including apoptosis, migration and invasion. 29803613 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 AlteredExpression group BEFREE Especially, over-expressed CEMIP also protected malignant tumor from strict microenvironment in hypoxia, low glucose and cracked barrier, leading to enhanced adaptability of tumor by stimulating the Wnt, EGFR, FGFR pathway. 28819426 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 AlteredExpression phenotype BEFREE Furthermore, we demonstrated that KIAA1199 was one of the direct and functional targets of miR-216a, and miR-216a overexpression led to decreased migration and invasion of colorectal cancer cells in vitro, and inhibited metastasis in vivo. 28213952 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 AlteredExpression phenotype BEFREE On the other hand, forced expression of KIAA1199 using gene transduction significantly enhanced the migration and invasion. 28179576 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 Biomarker phenotype BEFREE These findings demonstrated that KIAA1199 was upregulated in GC tissue and associated with worse clinical outcomes in GC, and KIAA1199 acted as an oncogene by promoting migration and invasion through the enhancement of Wnt/β-catenin signaling pathway and MMPs mediated EMT progression in GC cells. 28422983 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 AlteredExpression phenotype BEFREE Firstly its mutation site was reported to cause hearing loss due to the folding change of protein structure, meanwhile the over-expression of CEMIP referred to dreadful invasion and uncontrolled proliferation of tumor with distant metastasis, dedifferentiation, and limited survival opportunity of patients. 28819426 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Therefore, KIAA1199 may be a new and prospective target for cancer therapy, although further in vitro and in vivo investigations are required. 24573670 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE In addition, KIAA1199-overexpressing cancer cell lines were constructed using a retroviral vector and were used for further experiments. 25051373 2014