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: 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: 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: 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: 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: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.010 Biomarker group BEFREE The stomatin protein is homologous to the 'podocin' protein, the gene for which is mutated in a recessively inherited form of nephrotic syndrome. 12629268 2003
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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE Results from tissue microarray in this study and our previous reports revealed that stomatin-like protein 2 (SLP-2) is notably associated with tumorigenesis and metastasis. 19597348 2009
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE Results from tissue microarray in this study and our previous reports revealed that stomatin-like protein 2 (SLP-2) is notably associated with tumorigenesis and metastasis. 19597348 2009
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: 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: 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: 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: 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: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.010 GeneticVariation phenotype 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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.010 GeneticVariation group 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: 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: 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: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		0.010 GeneticVariation 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: 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
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: 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