SEPTIN11, septin 11, 55752

N. diseases: 23; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.300 Biomarker disease PSYGENET Common proteomic changes in the hippocampus in schizophrenia and bipolar disorder and particular evidence for involvement of cornu ammonis regions 2 and 3. 21536977 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.300 Biomarker disease PSYGENET Common proteomic changes in the hippocampus in schizophrenia and bipolar disorder and particular evidence for involvement of cornu ammonis regions 2 and 3. 21536977 2011
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia
0.300 Biomarker phenotype CTD_human Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. 16823967 2006
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria
0.300 Biomarker disease CTD_human Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. 16823967 2006
CUI: C0015745
Disease: Feeding behaviors
Feeding behaviors
0.100 GeneticVariation phenotype GWASCAT A genome-wide investigation of food addiction. 27106561 2016
CUI: C0028754
Disease: Obesity
Obesity
0.010 Biomarker disease BEFREE Our findings support a role for SEPT11 in lipid traffic and metabolism in adipocytes and open new avenues for research on the control of lipid storage in obesity and insulin resistance. 27866222 2017
Differentiated Thyroid Gland Carcinoma
0.010 Biomarker disease BEFREE In addition, we confirmed three previously reported loci (FOXE1, NKX2-1 and DIRC3) and identified seven novel susceptibility loci (VAV3, PCNXL2, INSR, MRSB3, FHIT, SEPT11 and SLC24A6) associated with DTC. 28703219 2017
Primary differentiated carcinoma of thyroid gland
0.010 Biomarker disease BEFREE In addition, we confirmed three previously reported loci (FOXE1, NKX2-1 and DIRC3) and identified seven novel susceptibility loci (VAV3, PCNXL2, INSR, MRSB3, FHIT, SEPT11 and SLC24A6) associated with DTC. 28703219 2017
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
0.010 Biomarker disease BEFREE Here, we describe the identification of septin 11 (SEPT11), an enriched component of detergent-resistant fractions in frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions (FTLD-U), using large-scale unbiased proteomics approaches. 22126117 2011
CUI: C3811918
Disease: GRN-related frontotemporal dementia
GRN-related frontotemporal dementia
0.010 Biomarker disease BEFREE Here, we describe the identification of septin 11 (SEPT11), an enriched component of detergent-resistant fractions in frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions (FTLD-U), using large-scale unbiased proteomics approaches. 22126117 2011
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA
0.010 Biomarker disease BEFREE Five different septin genes (SEPT2, SEPT5, SEPT6, SEPT9, and SEPT11) have been identified as MLL fusion partners, giving rise to chimeric fusion proteins in which the N terminus of MLL is fused, in frame, to almost the entire open reading frame of the septin partner gene. 21714766 2011
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 AlteredExpression disease BEFREE Reverse transcriptase-polymerase chain reaction revealed expression of a chimeric MLL-SEPT11 transcript, thus identifying what is to our knowledge a hitherto undescribed translocation in ALL. 20633769 2010
Childhood Acute Lymphoblastic Leukemia
0.010 AlteredExpression disease BEFREE Reverse transcriptase-polymerase chain reaction revealed expression of a chimeric MLL-SEPT11 transcript, thus identifying what is to our knowledge a hitherto undescribed translocation in ALL. 20633769 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation group BEFREE In humans, 14 septin genes have been identified, of which five (SEPT2, SEPT5, SEPT6, SEPT9, and SEPT11) are known to participate in reciprocal translocations with the MLL gene in myeloid neoplasias. 19748670 2010
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.010 AlteredExpression disease BEFREE Reverse transcriptase-polymerase chain reaction revealed expression of a chimeric MLL-SEPT11 transcript, thus identifying what is to our knowledge a hitherto undescribed translocation in ALL. 20633769 2010
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.010 GeneticVariation disease BEFREE A translocation in acute lymphoblastic leukemia that cytogenetically mimics the recurrent MLL-AFF1 translocation and fuses SEPT11 to MLL. 20633769 2010
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 Biomarker disease BEFREE LOH in ARD1B and SEPT11 could serve as novel prognostic predictors in HCC patients. 20419844 2010
CUI: C1834304
Disease: AMYOTROPHY, HEREDITARY NEURALGIC
AMYOTROPHY, HEREDITARY NEURALGIC
0.010 GeneticVariation disease BEFREE SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling. 17546647 2007
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.010 Biomarker disease BEFREE Quantitative analysis of hypothetical protein FLJ10849, hypothetical protein FLJ20113, and activator of hsp90 ATPase homologue 1 (AHA1) revealed levels comparable between DS and controls. 15176487 2004
CUI: C0023418
Disease: leukemia
leukemia
0.010 Biomarker disease BEFREE Our results suggest that FLJ10849 might define a new septin family particularly involved in the pathogenesis of 11q23-associated leukemia. 14999297 2004
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.010 GeneticVariation disease BEFREE The protein encoded by FLJ10849 belongs to the septin family, sharing highest homology with human SEPT6, which is one of the fusion partners of MLL in t(X;11)(q13;q23) AML. 14999297 2004
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.010 Biomarker disease BEFREE Our results suggest that FLJ10849 might define a new septin family particularly involved in the pathogenesis of 11q23-associated leukemia. 14999297 2004
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 Biomarker disease BEFREE Quantitative analysis of hypothetical protein FLJ10849, hypothetical protein FLJ20113, and activator of hsp90 ATPase homologue 1 (AHA1) revealed levels comparable between DS and controls. 15176487 2004