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 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: 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: 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 Biomarker disease BEFREE Furthermore, CEMIP silencing sensitized CRC cells to thapsigargin-induced apoptosis. 29024602 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 Biomarker disease BEFREE Collectively, KIAA1199 plays a critical role in maintaining an aggressive phenotype of tumor cells, and suppression of KIAA1199-related motilities of tumor cells contributes to reduced tumor metastasis in colorectal cancer. 28213952 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 AlteredExpression disease BEFREE KIAA1199 was upregulated in CRC tissues, and was negatively regulated by miR-600. 29776371 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 Biomarker disease BEFREE Cell migration inducing hyaluronan binding protein (CEMIP) is a hyaluronic acid binding protein, the abnormal elevation of which is suggested as a contributor in the carcinogenesis of colorectal cancer (CRC). 29173982 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 Biomarker disease BEFREE Functional role of long non-coding RNA CASC19/miR-140-5p/CEMIP axis in colorectal cancer progression <i>in vitro</i>. 31011255 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 Biomarker disease BEFREE Collectively, our study reveals that KIAA1199 promotes metastasis of colorectal cancer cells via microtubule destabilization regulated by a PP2A/stathmin pathway, and suggests that KIAA1199 may be a promising target for preventing metastasis in colorectal cancer. 30202098 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 Biomarker disease 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></i>. 29915160 2018
Malignant neoplasm of colon and/or rectum
0.050 Biomarker disease BEFREE Functional role of long non-coding RNA CASC19/miR-140-5p/CEMIP axis in colorectal cancer progression <i>in vitro</i>. 31011255 2019
Malignant neoplasm of colon and/or rectum
0.050 Biomarker disease BEFREE Collectively, KIAA1199 plays a critical role in maintaining an aggressive phenotype of tumor cells, and suppression of KIAA1199-related motilities of tumor cells contributes to reduced tumor metastasis in colorectal cancer. 28213952 2017
Malignant neoplasm of colon and/or rectum
0.050 AlteredExpression disease BEFREE LncRNA TUG1 promoted KIAA1199 expression via miR-600 to accelerate cell metastasis and epithelial-mesenchymal transition in colorectal cancer. 29776371 2018
Malignant neoplasm of colon and/or rectum
0.050 Biomarker disease BEFREE Collectively, our study reveals that KIAA1199 promotes metastasis of colorectal cancer cells via microtubule destabilization regulated by a PP2A/stathmin pathway, and suggests that KIAA1199 may be a promising target for preventing metastasis in colorectal cancer. 30202098 2019
Malignant neoplasm of colon and/or rectum
0.050 Biomarker disease 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></i>. 29915160 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 Biomarker disease BEFREE Our data suggest H3K27me3 loss as an important event in CEMIP mediated breast cancer carcinogenesis and progression. 31846842 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 AlteredExpression disease BEFREE To gain deeper insights into the novel role of KIAA1199 in breast cancer, we modulated KIAA1199 expression using shRNA-mediated knockdown in two breast cancer cell lines (MDA-MB-231 and HS578T), expressing higher levels of KIAA1199. 24628760 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 AlteredExpression disease BEFREE Interestingly, an immortal fibroblast cell line and two breast cancer cell lines expressed much lower amounts of KIAA1199 mRNA than their normal counterparts. 16157444 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 AlteredExpression disease BEFREE Involvement of DNA methylation in regulation of KIAA1199 expression was recapitulated in human breast cancer cell lines. 22970280 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 AlteredExpression disease BEFREE Involvement of DNA methylation in regulation of KIAA1199 expression was recapitulated in human breast cancer cell lines. 22970280 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 AlteredExpression disease BEFREE Interestingly, an immortal fibroblast cell line and two breast cancer cell lines expressed much lower amounts of KIAA1199 mRNA than their normal counterparts. 16157444 2006
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 Biomarker disease BEFREE Our data suggest H3K27me3 loss as an important event in CEMIP mediated breast cancer carcinogenesis and progression. 31846842 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 AlteredExpression disease BEFREE To gain deeper insights into the novel role of KIAA1199 in breast cancer, we modulated KIAA1199 expression using shRNA-mediated knockdown in two breast cancer cell lines (MDA-MB-231 and HS578T), expressing higher levels of KIAA1199. 24628760 2014