Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		0.600 CausalMutation disease CLINVAR
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		0.700 SusceptibilityMutation disease ORPHANET Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		0.600 SusceptibilityMutation disease ORPHANET Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.600 SusceptibilityMutation disease CLINVAR
CUI: C1867774
Disease: Sacral Agenesis Syndrome
Sacral Agenesis Syndrome 		0.300 SusceptibilityMutation phenotype ORPHANET Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
Spina bifida aperta of cervical spine 		0.300 SusceptibilityMutation disease ORPHANET Novel mutations in VANGL1 in neural tube defects. 19319979 2009
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
Spina bifida aperta of cervical spine 		0.300 SusceptibilityMutation disease ORPHANET Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C2609260
Disease: Caudal dysplasia syndrome
Caudal dysplasia syndrome 		0.300 SusceptibilityMutation disease ORPHANET Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.080 AlteredExpression phenotype BEFREE Here, through bioinformatic analyses and functional studies, we showed that miR-124, miR-27a, and miR-30b negatively regulate KITENIN expression and suppress the migration and invasion of several CRC cell lines via modulation of KITENIN expression. 24909917 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.080 AlteredExpression phenotype BEFREE Thus, antitumor effects of KITENIN siRNA derives from both the generation of a tumor-specific immune response in vivo through increased 90K secretion from tumor cells and the suppression of tumor invasion in which PKCI is related to increased invasiveness. 16204073 2005
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.080 AlteredExpression phenotype BEFREE Through repressing miR-605-3p availability, circ-VANGL1 contributes to VANGL1 expression, consequently leading to BC cell proliferation, migration, and invasion. 30146736 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.070 AlteredExpression group BEFREE In addition, tumor tissues from metastatic patients with colorectal cancer who showed initial poor responses to cetuximab/chemotherapy expressed higher levels of KITENIN than did responders to therapy. 24893630 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.070 AlteredExpression group BEFREE On the other hand, STB1 and STB2 are significantly down-regulated in several cancer cell lines and primary tumors. 12060845 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.070 AlteredExpression group BEFREE In a preliminary clinical study using resected tissues from head and neck SCC patients, KITENIN was highly expressed in tumors and metastatic lymph nodes, while KAI1 was more increased in adjacent mucosa than in tumor. 19166844 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.060 AlteredExpression disease BEFREE Biological alterations following EGF treatment were identified in KITENIN-overexpressed colorectal cancer cells with or without alteration of EGFR activity. 24893630 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.060 AlteredExpression disease BEFREE Thus, KITENIN functions in the maintenance of a higher expression level of ErbB4 in advanced CRC tissues, independent of ubiquitin-mediated degradation via Nrdp1. 27648936 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.060 AlteredExpression disease BEFREE Furthermore, the mRNA expression of KITENIN and that of ErbB4-CYT-2 were positively correlated in human colorectal cancer tissue. 26527747 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.050 AlteredExpression group BEFREE On the other hand, STB1 and STB2 are significantly down-regulated in several cancer cell lines and primary tumors. 12060845 2002
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 AlteredExpression group BEFREE On the other hand, STB1 and STB2 are significantly down-regulated in several cancer cell lines and primary tumors. 12060845 2002
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.050 AlteredExpression disease BEFREE Furthermore, the mRNA expression of KITENIN and that of ErbB4-CYT-2 were positively correlated in human colorectal cancer tissue. 26527747 2016
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.050 AlteredExpression disease BEFREE KITENIN functions as a fine regulator of ErbB4 expression level in colorectal cancer via protection of ErbB4 from E3-ligase Nrdp1-mediated degradation. 27648936 2017
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.050 AlteredExpression disease BEFREE Biological alterations following EGF treatment were identified in KITENIN-overexpressed colorectal cancer cells with or without alteration of EGFR activity. 24893630 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.030 AlteredExpression disease BEFREE We silenced VANGL1 gene expression in the HepG2 HCC cell line by stable transfection with a vector containing siRNA template for VANGL1 and investigated the change in cell invasion and motility. 25874746 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.030 AlteredExpression disease BEFREE To functionally characterize KITENIN in human HCC, we depleted its expression in human HCC cell lines, HepG2 and Huh7, by using small interfering RNA (siRNA). 21473287 2011
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 AlteredExpression disease BEFREE STB2 is highly expressed in MKN28, MKN74 (gastric cancer), BxPC-3, PSN-1, and Hs766T (pancreatic cancer) cells. 12060845 2002