Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032285
Disease: Pneumonia
Pneumonia 		0.010 Biomarker disease BEFREE Additional studies investigating inflammatory control in CCSP deficient mice found no differences between wild-type and CCSP-/-1 mice in their inflammatory response to low-dose inhaled endotoxin exposure, arguing against a role for CCSP in regulation of pulmonary inflammation. 11193758 2000
CUI: C3714636
Disease: Pneumonitis
Pneumonitis 		0.010 Biomarker disease BEFREE Additional studies investigating inflammatory control in CCSP deficient mice found no differences between wild-type and CCSP-/-1 mice in their inflammatory response to low-dose inhaled endotoxin exposure, arguing against a role for CCSP in regulation of pulmonary inflammation. 11193758 2000
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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.070 Biomarker phenotype BEFREE These findings suggest that KIAA1199 gene may play a role in cellular mortality of normal human cells, which counters cell immortalization and carcinogenesis. 16157444 2006
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: 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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 AlteredExpression disease BEFREE However, no significant change in KIAA1199 mRNA expression was observed during replicative aging in vitro (from early passage culture to senescent culture) of mortal human cells including RCC23+3, normal fibroblasts and prostate epithelial cells. 16157444 2006
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 AlteredExpression disease BEFREE However, no significant change in KIAA1199 mRNA expression was observed during replicative aging in vitro (from early passage culture to senescent culture) of mortal human cells including RCC23+3, normal fibroblasts and prostate epithelial cells. 16157444 2006
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.070 Biomarker phenotype BEFREE Our transcriptomic profiles of normal colonic mucosa and colorectal adenomas shed new light on the early stages of colorectal tumorigenesis and identified KIAA1199 as a novel target of the Wnt signaling pathway and a putative marker of colorectal adenomatous transformation. 18171984 2007
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.030 AlteredExpression disease BEFREE In normal mucosa, KIAA1199 expression was confined to cells in the lower portion of intestinal crypts, where Wnt signaling is physiologically active, but it was markedly increased in all adenomas, where it was expressed in most of the epithelial cells, and in colon cancer cell lines, it was markedly reduced by inactivation of the beta-catenin/T-cell factor(s) transcription complex, the pivotal mediator of Wnt signaling. 18171984 2007
CUI: C0001430
Disease: Adenoma
Adenoma 		0.020 AlteredExpression group BEFREE In normal mucosa, KIAA1199 expression was confined to cells in the lower portion of intestinal crypts, where Wnt signaling is physiologically active, but it was markedly increased in all adenomas, where it was expressed in most of the epithelial cells, and in colon cancer cell lines, it was markedly reduced by inactivation of the beta-catenin/T-cell factor(s) transcription complex, the pivotal mediator of Wnt signaling. 18171984 2007
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.020 AlteredExpression disease BEFREE In normal mucosa, KIAA1199 expression was confined to cells in the lower portion of intestinal crypts, where Wnt signaling is physiologically active, but it was markedly increased in all adenomas, where it was expressed in most of the epithelial cells, and in colon cancer cell lines, it was markedly reduced by inactivation of the beta-catenin/T-cell factor(s) transcription complex, the pivotal mediator of Wnt signaling. 18171984 2007
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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 AlteredExpression group BEFREE Nuclear and cytoplasmic KIAA1199 protein expression was identified in colon adenocarcinomas and other types of cancers. 21772334 2011
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.010 Biomarker disease BEFREE A subpopulation of patients with tumours strongly expressing KIAA1199 in the nucleus showed a better outcome with regard to recurrence as lung or liver metastases. 21772334 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 AlteredExpression group BEFREE Plasma KIAA1199 RNA levels were significantly higher in patients with either cancer or adenoma (31/40) compared to neoplasia-free controls (6/20). 22276102 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 AlteredExpression group BEFREE The regulatory mechanism controlling KIAA1199 expression in cancer remains to be characterized. 22970280 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.090 AlteredExpression group BEFREE KIAA1199 was selected for further analysis based on consistent up-regulation in neoplasia, previous studies and its interest as an uncharacterized gene. 22276102 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.080 AlteredExpression group BEFREE Plasma KIAA1199 RNA levels were significantly higher in patients with either cancer or adenoma (31/40) compared to neoplasia-free controls (6/20). 22276102 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.080 AlteredExpression group BEFREE The regulatory mechanism controlling KIAA1199 expression in cancer remains to be characterized. 22970280 2012
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: C0001430
Disease: Adenoma
Adenoma 		0.020 AlteredExpression group BEFREE Plasma KIAA1199 RNA levels were significantly higher in patients with either cancer or adenoma (31/40) compared to neoplasia-free controls (6/20). 22276102 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE KIAA1199 serves as a novel cell migration-promoting gene and plays a critical role in maintaining cancer mesenchymal status. 23990668 2013