CLCN3, chloride voltage-gated channel 3, 1182

N. diseases: 67; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.210 Biomarker disease MGD ClC-3 chloride channels facilitate endosomal acidification and chloride accumulation. 15504734 2005
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.210 Biomarker disease MGD These results indicated that the neurodegeneration observed in the Clcn3-/- mice was caused by an abnormality in the machinery which degrades the cellular protein and was associated with the phenotype of neuronal ceroid lipofuscinosis (NCL). 12059962 2002
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		0.200 Biomarker disease MGD CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis. 12059962 2002
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		0.200 Biomarker disease MGD ClC-3 chloride channels facilitate endosomal acidification and chloride accumulation. 15504734 2005
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		0.200 Biomarker disease MGD CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis. 12059962 2002
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		0.200 Biomarker disease MGD ClC-3 chloride channels facilitate endosomal acidification and chloride accumulation. 15504734 2005
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.200 Biomarker disease MGD ClC-3 chloride channels facilitate endosomal acidification and chloride accumulation. 15504734 2005
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.200 Biomarker disease MGD CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis. 12059962 2002
CUI: C0017638
Disease: Glioma
Glioma 		0.340 AlteredExpression disease LHGDN Transcripts for ClC-2 thru ClC-7 were detected in a human glioma cell line by PCR, whereas only ClC-2, ClC-3, and ClC-5 protein could be identified by Western blot. 12843258 2003
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		0.010 AlteredExpression disease LHGDN TGF-beta and IL-4 may modulate the expression of CLC-2 and CLC-3 in CRSsNP. 17882904 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.110 GeneticVariation disease GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.110 GeneticVariation disease GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.110 GeneticVariation disease GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.110 GeneticVariation disease GWASCAT Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. 29483656 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.110 GeneticVariation disease GWASCAT Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. 28991256 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.110 GeneticVariation disease GWASCAT Biological insights from 108 schizophrenia-associated genetic loci. 25056061 2014
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.100 GeneticVariation group GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.400 Biomarker disease CTD_human ClC-3 protein may be considered as a potential tumor marker and therapeutic target for human nasopharyngeal carcinoma. 22108225 2012
CUI: C0017638
Disease: Glioma
Glioma 		0.340 Biomarker disease CTD_human Transcripts for ClC-2 thru ClC-7 were detected in a human glioma cell line by PCR, whereas only ClC-2, ClC-3, and ClC-5 protein could be identified by Western blot. 12843258 2003
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.320 Biomarker disease CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.300 Biomarker group CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0235874
Disease: Disease Exacerbation
Disease Exacerbation 		0.300 Biomarker phenotype CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0259783
Disease: mixed gliomas
mixed gliomas 		0.300 Biomarker disease CTD_human Expression of voltage-gated chloride channels in human glioma cells. 12843258 2003
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		0.300 Biomarker disease CTD_human Expression of voltage-gated chloride channels in human glioma cells. 12843258 2003
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.300 Biomarker disease CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011