rs768849266
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identification of a novel human nicotinamide mononucleotide adenylyltransferase.
|
12359228 |
2002 |
rs775499191
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
TG |
0.700 |
GeneticVariation |
CLINVAR |
Identification of a novel human nicotinamide mononucleotide adenylyltransferase.
|
12359228 |
2002 |
rs768849266
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis.
|
12574164 |
2003 |
rs775499191
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
TG |
0.700 |
GeneticVariation |
CLINVAR |
Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis.
|
12574164 |
2003 |
rs768849266
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas.
|
14516279 |
2004 |
rs775499191
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
TG |
0.700 |
GeneticVariation |
CLINVAR |
Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas.
|
14516279 |
2004 |
rs768849266
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms.
|
16118205 |
2005 |
rs775499191
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
TG |
0.700 |
GeneticVariation |
CLINVAR |
Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms.
|
16118205 |
2005 |
rs768849266
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Expression, localization, and biochemical characterization of nicotinamide mononucleotide adenylyltransferase 2.
|
20943658 |
2010 |
rs775499191
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
TG |
0.700 |
GeneticVariation |
CLINVAR |
Expression, localization, and biochemical characterization of nicotinamide mononucleotide adenylyltransferase 2.
|
20943658 |
2010 |
rs768849266
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration.
|
21615689 |
2011 |
rs775499191
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
TG |
0.700 |
GeneticVariation |
CLINVAR |
Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration.
|
21615689 |
2011 |
rs768849266
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Cdk5-mediated phosphorylation of Axin directs axon formation during cerebral cortex development.
|
21940452 |
2011 |
rs775499191
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
TG |
0.700 |
GeneticVariation |
CLINVAR |
Cdk5-mediated phosphorylation of Axin directs axon formation during cerebral cortex development.
|
21940452 |
2011 |
rs768849266
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
|
22842230 |
2012 |
rs775499191
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
TG |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
|
22842230 |
2012 |
rs768849266
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Nicotinamide mononucleotide adenylyltransferase 2 (Nmnat2) regulates axon integrity in the mouse embryo.
|
23082226 |
2012 |
rs775499191
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
TG |
0.700 |
GeneticVariation |
CLINVAR |
Nicotinamide mononucleotide adenylyltransferase 2 (Nmnat2) regulates axon integrity in the mouse embryo.
|
23082226 |
2012 |
rs768849266
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Axonal trafficking of NMNAT2 and its roles in axon growth and survival in vivo.
|
24284888 |
2014 |
rs775499191
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
TG |
0.700 |
GeneticVariation |
CLINVAR |
Axonal trafficking of NMNAT2 and its roles in axon growth and survival in vivo.
|
24284888 |
2014 |
rs768849266
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Wallerian degeneration: an emerging axon death pathway linking injury and disease.
|
24840802 |
2014 |
rs775499191
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
TG |
0.700 |
GeneticVariation |
CLINVAR |
Wallerian degeneration: an emerging axon death pathway linking injury and disease.
|
24840802 |
2014 |
rs768849266
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
|
25560765 |
2015 |
rs775499191
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
TG |
0.700 |
GeneticVariation |
CLINVAR |
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
|
25560765 |
2015 |
rs768849266
|
Entrez Id: |
23057 |
Gene Symbol: |
NMNAT2 |
NMNAT2
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report.
|
28035283 |
2016 |