DBNL, drebrin like, 28988

N. diseases: 30; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.310 Biomarker disease PSYGENET Only the BD brain demonstrated increased global histone H3 acetylation and hypermethylation of the promotor region for the drebrin-like protein gene. 22760556 2012
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.310 PosttranslationalModification disease BEFREE Only the BD brain demonstrated increased global histone H3 acetylation and hypermethylation of the promotor region for the drebrin-like protein gene. 22760556 2012
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis
0.100 GeneticVariation phenotype CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239 2017
CUI: C0268149
Disease: Glycogen storage disease type X
Glycogen storage disease type X
0.100 CausalMutation disease CLINVAR Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M. 27612597 2016
CUI: C0268149
Disease: Glycogen storage disease type X
Glycogen storage disease type X
0.100 CausalMutation disease CLINVAR The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. 8447317 1993
CUI: C0268149
Disease: Glycogen storage disease type X
Glycogen storage disease type X
0.100 GeneticVariation disease CLINVAR
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.020 Biomarker disease BEFREE Furthermore, the mean F-wave amplitude (<i>r</i> = 0.454, <i>P</i> = 0.002) of the FDI was significantly correlated with the FDI/ADM CMAP amplitude ratio in ALS patients with affected hands but not of the ADM. Our findings suggested that the dysfunction of spinal motoneurons between the FDI and ADM was different in ALS, and spinal motoneuron dysfunction was associated with development of the split-hand phenomenon. 31133773 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.020 Biomarker disease BEFREE In older subjects, the CMAP amplitude decreased with age, but the decrement was increased only in ADM. At the baseline study the CMAP amplitude was similar in all three muscles in control and ALS patients. 31056952 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 Biomarker phenotype BEFREE MBNL1 binds the 3' untranslated regions (UTRs) of DBNL (drebrin-like protein) and TACC1 (transforming acidic coiled-coil containing protein 1)-two genes that we implicate as metastasis suppressors. 26883358 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 AlteredExpression phenotype BEFREE CMAP mRNA was selectively overexpressed in all murine liver metastatic tumors but not in any pulmonary metastatic tumors examined. 9892200 1999
Diabetes Mellitus, Non-Insulin-Dependent
0.010 Biomarker disease BEFREE CMAP: compound muscle action potential; cSNCV: compound sensory nerve conduction velocity; IENFD: intraepidermal nerve fiber density; LDL: low-density lipoprotein; MetS: metabolic syndrome; MNCV: motor conduction velocity; NCV: nerve conduction velocity; PN: peripheral neuropathy; PNS: peripheral nervous system; STZ: streptozotocin; T2D: type 2 diabetes mellitus; TNF alpha: tumor necrosis factor alpha; WHO: World Health Organization. 30638160 2019
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
0.010 Biomarker group BEFREE CMAP: compound muscle action potential; cSNCV: compound sensory nerve conduction velocity; IENFD: intraepidermal nerve fiber density; LDL: low-density lipoprotein; MetS: metabolic syndrome; MNCV: motor conduction velocity; NCV: nerve conduction velocity; PN: peripheral neuropathy; PNS: peripheral nervous system; STZ: streptozotocin; T2D: type 2 diabetes mellitus; TNF alpha: tumor necrosis factor alpha; WHO: World Health Organization. 30638160 2019
CUI: C0266463
Disease: Lissencephaly
Lissencephaly
0.010 Biomarker disease BEFREE These results suggest that Dbnl controls neuronal migration, neuronal multipolar morphology, and cell polarity in the developing cerebral cortex via regulating N-cadherin expression.<b>SIGNIFICANCE STATEMENT</b> Disruption of neuronal migration can cause neuronal disorders, such as lissencephaly and subcortical band heterotopia. 30504273 2019
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.010 Biomarker disease BEFREE CMAP: compound muscle action potential; cSNCV: compound sensory nerve conduction velocity; IENFD: intraepidermal nerve fiber density; LDL: low-density lipoprotein; MetS: metabolic syndrome; MNCV: motor conduction velocity; NCV: nerve conduction velocity; PN: peripheral neuropathy; PNS: peripheral nervous system; STZ: streptozotocin; T2D: type 2 diabetes mellitus; TNF alpha: tumor necrosis factor alpha; WHO: World Health Organization. 30638160 2019
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia
0.010 Biomarker disease BEFREE These results suggest that Dbnl controls neuronal migration, neuronal multipolar morphology, and cell polarity in the developing cerebral cortex via regulating N-cadherin expression.<b>SIGNIFICANCE STATEMENT</b> Disruption of neuronal migration can cause neuronal disorders, such as lissencephaly and subcortical band heterotopia. 30504273 2019
Length-dependent peripheral neuropathy
0.010 Biomarker disease BEFREE This study demonstrates the high correlation between the tibial CMAP and the sural SNAP in subjects without PN and patients with mild axonal peripheral neuropathy, and provides mathematical equations for the calculation of the predicted tibial CMAP for such individuals. 31686383 2019
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
0.010 Biomarker group BEFREE CMAP: compound muscle action potential; cSNCV: compound sensory nerve conduction velocity; IENFD: intraepidermal nerve fiber density; LDL: low-density lipoprotein; MetS: metabolic syndrome; MNCV: motor conduction velocity; NCV: nerve conduction velocity; PN: peripheral neuropathy; PNS: peripheral nervous system; STZ: streptozotocin; T2D: type 2 diabetes mellitus; TNF alpha: tumor necrosis factor alpha; WHO: World Health Organization. 30638160 2019
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
0.010 GeneticVariation disease BEFREE R1 prolongation correlated with more severely affected NCS in both POEMS (ulnar CMAP 2.6 mV vs. 4.5 mV, P = 0.001) and CIDP (2.0 mV vs. 6.1 mV, P < 0.001). 28646568 2018
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE
0.010 Biomarker disease BEFREE Cobl-like-mediated dendritic branching is dependent on Abp1 as well as on Ca<sup>2+</sup>/calmodulin (CaM) signaling and CaM association. 29233863 2018
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain
0.010 Biomarker disease BEFREE Cobl-like-mediated dendritic branching is dependent on Abp1 as well as on Ca<sup>2+</sup>/calmodulin (CaM) signaling and CaM association. 29233863 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE Enrichment analysis of the signature with curated cancer genes and the drugs selected by CMAP showed the genes in the signature may be drug targets for therapy. 28615526 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE Enrichment analysis of the signature with curated cancer genes and the drugs selected by CMAP showed the genes in the signature may be drug targets for therapy. 28615526 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 Biomarker group BEFREE Amplitudes of ulnar CMAP are lower in patients with CMT1A and diabetes mellitus, but not at a significant level. 23891256 2013
CUI: C0393538
Disease: Muscular Atrophy, Spinal, Type II
Muscular Atrophy, Spinal, Type II
0.010 Biomarker disease BEFREE Tibial nerve CMAP amplitudes significantly reduced in SMA II patients (p<0.01). 22512990 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 Biomarker disease BEFREE Analysis of the K-ras/B-raf/Erk signal cascade, p53 and CMAP as markers for tumor progression in colorectal cancer patients. 18575712 2008