Bernard-Soulier Syndrome
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Bernard-Soulier Syndrome
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Increased mean platelet volume
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Bernard-Soulier Syndrome, Type B
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Macrothrombocytopenia
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |