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: C1096367
Disease: Increased mean platelet volume
Increased mean platelet volume 		0.100 GeneticVariation phenotype CLINVAR
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: 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: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.010 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: 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: 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: 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: 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: 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
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: C1332977
Disease: Childhood Leukemia
Childhood 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: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.010 Biomarker disease BEFREE These results show that CDCrel-1 overexpression exerts dopamine-dependent neurotoxicity and suggest that inhibition of dopamine secretion by CDCrel-1 may contribute to the development of AR-JP. 14530399 2003
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: 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: 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: 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: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 Biomarker phenotype BEFREE Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay. 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: C0270715
Disease: Degenerative Diseases, Central Nervous System
Degenerative Diseases, Central Nervous System 		0.300 Biomarker group CTD_human A proteomic analysis of MCLR-induced neurotoxicity: implications for Alzheimer's disease. 22430071 2012