Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768849266
rs768849266
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
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
dbSNP: rs775499191
rs775499191
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
Multiple congenital anomalies 		TG 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
dbSNP: rs768849266
rs768849266
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
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
dbSNP: rs775499191
rs775499191
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
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
dbSNP: rs768849266
rs768849266
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Wallerian degeneration: an emerging axon death pathway linking injury and disease. 24840802 2014
dbSNP: rs768849266
rs768849266
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Axonal trafficking of NMNAT2 and its roles in axon growth and survival in vivo. 24284888 2014
dbSNP: rs775499191
rs775499191
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
Multiple congenital anomalies 		TG 0.700 GeneticVariation CLINVAR Wallerian degeneration: an emerging axon death pathway linking injury and disease. 24840802 2014
dbSNP: rs775499191
rs775499191
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
Multiple congenital anomalies 		TG 0.700 GeneticVariation CLINVAR Axonal trafficking of NMNAT2 and its roles in axon growth and survival in vivo. 24284888 2014
dbSNP: rs768849266
rs768849266
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Nicotinamide mononucleotide adenylyltransferase 2 (Nmnat2) regulates axon integrity in the mouse embryo. 23082226 2012
dbSNP: rs768849266
rs768849266
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
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
dbSNP: rs775499191
rs775499191
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
Multiple congenital anomalies 		TG 0.700 GeneticVariation CLINVAR Nicotinamide mononucleotide adenylyltransferase 2 (Nmnat2) regulates axon integrity in the mouse embryo. 23082226 2012
dbSNP: rs775499191
rs775499191
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
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
dbSNP: rs768849266
rs768849266
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Cdk5-mediated phosphorylation of Axin directs axon formation during cerebral cortex development. 21940452 2011
dbSNP: rs768849266
rs768849266
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
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
dbSNP: rs775499191
rs775499191
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
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
dbSNP: rs775499191
rs775499191
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
Multiple congenital anomalies 		TG 0.700 GeneticVariation CLINVAR Cdk5-mediated phosphorylation of Axin directs axon formation during cerebral cortex development. 21940452 2011
dbSNP: rs768849266
rs768849266
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Expression, localization, and biochemical characterization of nicotinamide mononucleotide adenylyltransferase 2. 20943658 2010
dbSNP: rs775499191
rs775499191
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
Multiple congenital anomalies 		TG 0.700 GeneticVariation CLINVAR Expression, localization, and biochemical characterization of nicotinamide mononucleotide adenylyltransferase 2. 20943658 2010
dbSNP: rs768849266
rs768849266
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms. 16118205 2005
dbSNP: rs775499191
rs775499191
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
Multiple congenital anomalies 		TG 0.700 GeneticVariation CLINVAR Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms. 16118205 2005
dbSNP: rs768849266
rs768849266
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas. 14516279 2004
dbSNP: rs775499191
rs775499191
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
Multiple congenital anomalies 		TG 0.700 GeneticVariation CLINVAR Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas. 14516279 2004
dbSNP: rs768849266
rs768849266
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
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
dbSNP: rs775499191
rs775499191
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
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
dbSNP: rs768849266
rs768849266
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Identification of a novel human nicotinamide mononucleotide adenylyltransferase. 12359228 2002