STOM, stomatin, 2040

N. diseases: 39; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff
0.030 GeneticVariation disease BEFREE The cryohydrocytosis phenotype, including South-east Asian Ovalocytosis, results from mutations in <i>SLC4A1</i>, and the very rare condition, stomatin-deficient cryohydrocytosis, is caused by mutations in <i>SLC2A1</i>. 29713289 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 Biomarker group BEFREE Stomatin-like protein 2 (SLP-2), a member of the stomatin protein family, has emerged as a potential molecular hallmark of tumor progression in several human malignancies. 26750533 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 AlteredExpression group BEFREE Several studies have indicated that overexpression of stomatin-like protein 2 (SLP-2) has been identified in several types of cancer. 23918306 2014
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff
0.030 Biomarker disease BEFREE Recently paroxysmal exertion-induced dyskinesia and stomatin-deficient cryohydrocytosis have been identified as an allelic disorder to GLUT1 deficiency equally responding to a ketogenic diet. 23622389 2013
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff
0.030 Biomarker disease BEFREE Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 21791420 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 Biomarker group BEFREE To investigate the role of stomatin-like protein 2 (SLP-2), a novel cancer-related gene, in pulmonary squamous cell carcinoma (PSCC) and its implications. 19839737 2010
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.020 Biomarker phenotype BEFREE Stomatin-like protein 2 (SLP-2), a member of the stomatin protein family, has emerged as a potential molecular hallmark of tumor progression in several human malignancies. 26750533 2016
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.020 Biomarker phenotype BEFREE miRNA-1207-5p is associated with cancer progression by targeting stomatin-like protein 2 in esophageal carcinoma. 25695396 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE Stomatin-like protein 2 (SLP-2) is a novel member of the stomatin superfamily and is found in several types of human tumors. 24190591 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 AlteredExpression group BEFREE Several studies have indicated that overexpression of stomatin-like protein 2 (SLP-2) has been identified in several types of cancer. 23918306 2014
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia
0.020 GeneticVariation disease BEFREE We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, mental retardation, and movement disorder. 21791420 2011
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 Biomarker group BEFREE To investigate the role of stomatin-like protein 2 (SLP-2), a novel cancer-related gene, in pulmonary squamous cell carcinoma (PSCC) and its implications. 19839737 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE Many members of stomatin family are involved in tumor as mitochondrial component, and recent study has revealed that SLP-2 may also function in mitochondria. 19597348 2009
CUI: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I
0.020 AlteredExpression disease BEFREE Magnetic-activated cell separation studies, using beads to which an anti-transferrin receptor antibody was conjugated, confirmed that in OHSt there was a correspondence between expression of stomatin and the transferrin receptor. 12750157 2003
CUI: C1262483
Disease: Hereditary stomatocytosis
Hereditary stomatocytosis
0.020 Biomarker disease BEFREE STORP is homologous to the EPB72 gene coding for the erythrocyte band 7 integral membrane protein or stomatin, which is deficient in a certain form of hereditary stomatocytosis.The function of STORP is unknown. 10997330 2000
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia
0.020 Biomarker disease BEFREE Stomatocytosis is absent in "stomatin"-deficient murine red blood cells. 10090952 1999
CUI: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I
0.020 Biomarker disease BEFREE The cause of overhydrated hereditary stomatocytosis remains elusive despite the manifest lack of the enigmatic protein stomatin in the erythrocyte membrane. 10088641 1999
CUI: C1262483
Disease: Hereditary stomatocytosis
Hereditary stomatocytosis
0.020 Biomarker disease BEFREE Stomatin is a poorly understood integral membrane protein that is absent from the erythrocyte membranes of many patients with hereditary stomatocytosis. 8786142 1996
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 AlteredExpression disease BEFREE Stomatin-like protein-2 (SLP-2) gene belongs to the stomatin supergene family, and previous studies have revealed up-regulated SLP-2 expression in gallbladder cancer, lung cancer, and esophageal cancer, while the role of SLP-2 in colorectal cancer (CRC) remains unclear and needs further investigation. 30389319 2019
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder
0.010 AlteredExpression disease BEFREE Stomatin-like protein-2 (SLP-2) gene belongs to the stomatin supergene family, and previous studies have revealed up-regulated SLP-2 expression in gallbladder cancer, lung cancer, and esophageal cancer, while the role of SLP-2 in colorectal cancer (CRC) remains unclear and needs further investigation. 30389319 2019
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma
0.010 AlteredExpression disease BEFREE Stomatin-like protein-2 (SLP-2) gene belongs to the stomatin supergene family, and previous studies have revealed up-regulated SLP-2 expression in gallbladder cancer, lung cancer, and esophageal cancer, while the role of SLP-2 in colorectal cancer (CRC) remains unclear and needs further investigation. 30389319 2019
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
0.010 AlteredExpression disease BEFREE Stomatin-like protein-2 (SLP-2) gene belongs to the stomatin supergene family, and previous studies have revealed up-regulated SLP-2 expression in gallbladder cancer, lung cancer, and esophageal cancer, while the role of SLP-2 in colorectal cancer (CRC) remains unclear and needs further investigation. 30389319 2019
Stage IIA Gallbladder Cancer AJCC v8
0.010 AlteredExpression disease BEFREE Stomatin-like protein-2 (SLP-2) gene belongs to the stomatin supergene family, and previous studies have revealed up-regulated SLP-2 expression in gallbladder cancer, lung cancer, and esophageal cancer, while the role of SLP-2 in colorectal cancer (CRC) remains unclear and needs further investigation. 30389319 2019
Stage IIB Gallbladder Cancer AJCC v8
0.010 AlteredExpression disease BEFREE Stomatin-like protein-2 (SLP-2) gene belongs to the stomatin supergene family, and previous studies have revealed up-regulated SLP-2 expression in gallbladder cancer, lung cancer, and esophageal cancer, while the role of SLP-2 in colorectal cancer (CRC) remains unclear and needs further investigation. 30389319 2019
Stage III Gallbladder Cancer AJCC v8
0.010 AlteredExpression disease BEFREE Stomatin-like protein-2 (SLP-2) gene belongs to the stomatin supergene family, and previous studies have revealed up-regulated SLP-2 expression in gallbladder cancer, lung cancer, and esophageal cancer, while the role of SLP-2 in colorectal cancer (CRC) remains unclear and needs further investigation. 30389319 2019