Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775499191
rs775499191
NMNAT2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: rs775499191
rs775499191
NMNAT2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TG 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
NMNAT2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TG 0.700 GeneticVariation CLINVAR Wallerian degeneration: an emerging axon death pathway linking injury and disease. 24840802

2014
dbSNP: rs775499191
rs775499191
NMNAT2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TG 0.700 GeneticVariation CLINVAR Axonal trafficking of NMNAT2 and its roles in axon growth and survival in vivo. 24284888

2014
dbSNP: rs775499191
rs775499191
NMNAT2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TG 0.700 GeneticVariation CLINVAR Nicotinamide mononucleotide adenylyltransferase 2 (Nmnat2) regulates axon integrity in the mouse embryo. 23082226

2012
dbSNP: rs775499191
rs775499191
NMNAT2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TG 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
NMNAT2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TG 0.700 GeneticVariation CLINVAR Cdk5-mediated phosphorylation of Axin directs axon formation during cerebral cortex development. 21940452

2011
dbSNP: rs775499191
rs775499191
NMNAT2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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
NMNAT2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TG 0.700 GeneticVariation CLINVAR Expression, localization, and biochemical characterization of nicotinamide mononucleotide adenylyltransferase 2. 20943658

2010
dbSNP: rs775499191
rs775499191
NMNAT2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TG 0.700 GeneticVariation CLINVAR Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms. 16118205

2005
dbSNP: rs775499191
rs775499191
NMNAT2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TG 0.700 GeneticVariation CLINVAR Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas. 14516279

2004
dbSNP: rs775499191
rs775499191
NMNAT2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TG 0.700 GeneticVariation CLINVAR Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis. 12574164

2003
dbSNP: rs775499191
rs775499191
NMNAT2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TG 0.700 GeneticVariation CLINVAR Identification of a novel human nicotinamide mononucleotide adenylyltransferase. 12359228

2002