SEPTIN5, septin 5, 5413

N. diseases: 29; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.110 CausalMutation disease CLINVAR
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.110 GeneticVariation disease CLINVAR
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.110 Biomarker disease BEFREE Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay. 21800012 2011
CUI: C1856447
Disease: Bernard-Soulier Syndrome, Type B
Bernard-Soulier Syndrome, Type B 		0.100 CausalMutation disease CLINVAR
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.100 GeneticVariation disease CLINVAR
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.030 Biomarker disease BEFREE miR-185 and SEPT5 Genes May Contribute to Parkinson's Disease Pathophysiology. 31814881 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.030 Biomarker disease BEFREE A case study using Parkinson disease (PD) has identified four candidate genes (UBB, SEPT5, GPR37 and TH) that ranked higher than our adaptive threshold, all of which are involved in the PD pathway. 21731658 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.030 AlteredExpression disease BEFREE We investigated the neuroprotective potential of HSP70, HSP40, and H-BH, a constitutively active form of heat shock factor 1, in a rat model of PD based on adeno-associated virus (AAV) vector-mediated overexpression of CDCrel-1, a parkin substrate known to be toxic to dopaminergic neurons. 18398426 2008
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.020 Biomarker disease BEFREE The mouse homologue, Pnutl1, maps to MMU16 adding to the growing number of genes from the DiGeorge syndrome region that map to this chromosome. 9385360 1997
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.020 Biomarker disease BEFREE Based on the expression pattern as well as clinical data, Cdcrel-1 may be involved in the etiology of VCFS/DGS. 10940632 2000
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.020 AlteredExpression disease BEFREE The higher expression rate of CDCREL1 in AML cell lines than in ALL cell lines suggests that this gene may play some role in myeloid leukemogenesis. 11170279 2001
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.020 GeneticVariation disease BEFREE Clinical, cytogenetic and molecular features of acute myeloid leukemia with a MLL-SEPT5 fusion gene are reviewed. 23725386 2014
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.020 GeneticVariation disease BEFREE Furthermore, PCR analysis showed that the chromosome 11 breakpoint was at the APOA5/APOA4 locus at 11q23.3, which is associated with malignancy, and that the chromosome 22 breakpoint was at the SEPT5 intron 1 locus, which also plays a role in leukemogenesis through formation of a fusion gene with MLL. 30680670 2019
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.020 AlteredExpression disease BEFREE The higher expression rate of CDCREL1 in AML cell lines than in ALL cell lines suggests that this gene may play some role in myeloid leukemogenesis. 11170279 2001
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 Biomarker disease BEFREE In the present study, we report that the activation of μ- and m-calpain in patients with type 2 diabetes has profound effects on the platelet proteome and have identified septin-5 and the integrin-linked kinase (ILK) as novel calpain substrates. 22665935 2012
CUI: C0023418
Disease: leukemia
leukemia 		0.010 Biomarker disease BEFREE The MLL-LCX fusion protein lacked a CXXC domain of LCX, but retained an alpha-helical coiled-coil region at the COOH terminus, similar to MLL-SEPTING, MLL-CDCREL1, MLL-AF1p/Eps15, and MLL-AF6, which suggests that these fusion proteins are involved in the pathogenesis of 11q23-associated leukemia through similar mechanisms. 12124344 2002
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 AlteredExpression disease BEFREE The higher expression rate of CDCREL1 in AML cell lines than in ALL cell lines suggests that this gene may play some role in myeloid leukemogenesis. 11170279 2001
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 AlteredExpression disease BEFREE The higher expression rate of CDCREL1 in AML cell lines than in ALL cell lines suggests that this gene may play some role in myeloid leukemogenesis. 11170279 2001
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 AlteredExpression disease BEFREE Among the overexpressed genes found in CML at diagnosis are SEPT5, RUNX1, MIER1, KPNA6 and FLT3, while PAN3, TOB1 and ITCH were decreased when compared to healthy volunteers. 24144310 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 Biomarker disease BEFREE Despite several limitations to modeling mental illness in mice, mouse models have identified several genes on 22q11.2-Tbx1, Dgcr8, Comt, Sept5, and Prodh-that contribute to dimensions of autism spectrum disorder and schizophrenia, including working memory, social communication and interaction, and sensorimotor gating. 31135887 2019
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.010 Biomarker disease BEFREE Based on the expression pattern as well as clinical data, Cdcrel-1 may be involved in the etiology of VCFS/DGS. 10940632 2000
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.010 Biomarker disease BEFREE This report describes for the first time a patient with SEPT5 deficiency presenting with cortical dysplasia (polymicrogyria), developmental delay, and platelet secretion defect. 21800012 2011
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.010 Biomarker disease BEFREE This report describes for the first time a patient with SEPT5 deficiency presenting with cortical dysplasia (polymicrogyria), developmental delay, and platelet secretion defect. 21800012 2011
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 Biomarker disease BEFREE Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay. 21800012 2011
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 AlteredExpression disease BEFREE The higher expression rate of CDCREL1 in AML cell lines than in ALL cell lines suggests that this gene may play some role in myeloid leukemogenesis. 11170279 2001