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 |
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 |
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 |
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 |
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 |
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 |