SLC12A4, solute carrier family 12 member 4, 6560

N. diseases: 23; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C0342895
Disease: Fish-Eye Disease
Fish-Eye Disease 		0.100 CausalMutation disease CLINVAR
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 AlteredExpression phenotype BEFREE As the key regulator of tumor cell volume, sodium-potassium-chloride cotransporter 1 (NKCC1) expression increases along with the malignancy of the glioma, and NKCC1 has been implicated in glioblastoma invasion. 30159893 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 AlteredExpression phenotype BEFREE After the application of IGF-I on the HEC-1B cells, the expression of KCC1 and p-ERK1/2 increased dramatically, and the cell invasion ability advanced. 21666489 2011
CUI: C0030193
Disease: Pain
Pain 		0.010 Biomarker phenotype BEFREE Sodium-potassium-chloride cotransporter 1 (NKCC1) and potassium-chloride cotransporter 2 (KCC2) are associated with the transmission of peripheral pain. 31719257 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE As the key regulator of tumor cell volume, sodium-potassium-chloride cotransporter 1 (NKCC1) expression increases along with the malignancy of the glioma, and NKCC1 has been implicated in glioblastoma invasion. 30159893 2019
CUI: C0011175
Disease: Dehydration
Dehydration 		0.010 AlteredExpression phenotype BEFREE We therefore investigated the effect of genetic inactivation of KCC3 and KCC1 in the SAD mouse model of sickle red cell dehydration, finding decreased red cell density and improved hematological indices. 31352162 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 AlteredExpression disease BEFREE As the key regulator of tumor cell volume, sodium-potassium-chloride cotransporter 1 (NKCC1) expression increases along with the malignancy of the glioma, and NKCC1 has been implicated in glioblastoma invasion. 30159893 2019
CUI: C0024534
Disease: Malaria, Cerebral
Malaria, Cerebral 		0.010 Biomarker disease BEFREE KCC1 Activation protects Mice from the Development of Experimental Cerebral Malaria. 31015511 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 AlteredExpression disease BEFREE As the key regulator of tumor cell volume, sodium-potassium-chloride cotransporter 1 (NKCC1) expression increases along with the malignancy of the glioma, and NKCC1 has been implicated in glioblastoma invasion. 30159893 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 AlteredExpression disease BEFREE As the key regulator of tumor cell volume, sodium-potassium-chloride cotransporter 1 (NKCC1) expression increases along with the malignancy of the glioma, and NKCC1 has been implicated in glioblastoma invasion. 30159893 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 AlteredExpression group BEFREE As the key regulator of tumor cell volume, sodium-potassium-chloride cotransporter 1 (NKCC1) expression increases along with the malignancy of the glioma, and NKCC1 has been implicated in glioblastoma invasion. 30159893 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 AlteredExpression disease BEFREE As the key regulator of tumor cell volume, sodium-potassium-chloride cotransporter 1 (NKCC1) expression increases along with the malignancy of the glioma, and NKCC1 has been implicated in glioblastoma invasion. 30159893 2019
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 Biomarker phenotype BEFREE Moreover, colonocytic ZnR/GPR39 and KCC1 reduce water loss during diarrhea and may therefore serve as effective drug targets. 28093242 2017
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 Biomarker disease BEFREE However, whether KCC1 contributes to invasion and metastasis of endometrial cancer has not been thoroughly investigated. 21666489 2011
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE However, whether KCC1 contributes to invasion and metastasis of endometrial cancer has not been thoroughly investigated. 21666489 2011
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 Biomarker disease BEFREE However, whether KCC1 contributes to invasion and metastasis of endometrial cancer has not been thoroughly investigated. 21666489 2011
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation disease BEFREE Therefore, we investigated the expression patterns of KCC2 and its functional opponent, the chloride influx-mediating sodium-potassium chloride cotransporter 1 (NKCC1), in the superoxide dismutase 1 (SOD1-G93A) mouse model of ALS. 20838240 2010
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		0.010 AlteredExpression disease BEFREE The expression levels of kNBC and KCC1 and -4 mRNAs did not differ between nasal mucosa and nasal polyp. 16012037 2005
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.010 Biomarker disease BEFREE K-Cl cotransport is elevated in sickle erythrocytes, and the KCC1 gene has been proposed as a modifier gene in sickle cell disease. 14976052 2004