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 Biomarker disease BEFREE Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 21791420 2011
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 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: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.020 Biomarker disease BEFREE Stomatocytosis is absent in "stomatin"-deficient murine red blood cells. 10090952 1999
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: 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: 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: 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: 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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 AlteredExpression disease BEFREE Our data demonstrate for the first time that expression of stomatin, a poorly studied microdomain-forming protein, significantly changes in human tumors, thus pointing to its importance in the progression of NSCLC. 24533441 2014
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 Biomarker disease BEFREE To investigate the prognostic role of stomatin-like protein 2 (STOML2) in cervical cancer. 25973071 2015
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: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 Biomarker disease BEFREE Moreover, in stomatin transgenic mice, increased cell fusion leading to enhanced bone resorption and subsequent osteoporosis were observed. 27663861 2017
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.010 Biomarker disease BEFREE At the present time, there is a lack of data about the involvement of flotillins and stomatin in the development of non-small cell lung cancer (NSCLC) and soft tissue sarcomas (STS). 24533441 2014
CUI: C0086543
Disease: Cataract
Cataract 		0.010 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: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.010 Biomarker disease BEFREE miRNA-1207-5p is associated with cancer progression by targeting stomatin-like protein 2 in esophageal carcinoma. 25695396 2015
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: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.010 GeneticVariation disease BEFREE We performed family-based analyses and found evidence of association of cleft lip/palate with STOM (rs306796) in Guatemalan families (P = 0.004) and in all multiplex families pooled together (P = 0.002). 20583170 2010
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: C0272051
Disease: Xerocytosis
Xerocytosis 		0.010 GeneticVariation disease BEFREE Exclusion of the stomatin, alpha-adducin and beta-adducin loci in a large kindred with dehydrated hereditary stomatocytosis. 9883810 1999
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.010 AlteredExpression disease BEFREE Increased expression of stomatin-like protein 2 (STOML2) predicts decreased survival in gastric adenocarcinoma: a retrospective study. 24258357 2014
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 Biomarker disease BEFREE To investigate the prognostic role of stomatin-like protein 2 (STOML2) in cervical cancer. 25973071 2015
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.010 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: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 AlteredExpression disease BEFREE Stomatin protein expression was down-regulated in 80% of NSCLC samples and this decrease significantly associated with presence of lymph node metastases. 24533441 2014
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		0.010 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