NAXE, NAD(P)HX epimerase, 128240

N. diseases: 41; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255647
rs879255647
Entrez Id: 128240
Gene Symbol: NAXE
NAXE
CUI: C4310675
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY 		0.800 GeneticVariation UNIPROT NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood. 27616477 2016
dbSNP: rs879255647
rs879255647
Entrez Id: 128240
Gene Symbol: NAXE
NAXE
CUI: C4310675
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY 		0.800 GeneticVariation UNIPROT Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy. 27122014 2016
dbSNP: rs879255647
rs879255647
Entrez Id: 128240
Gene Symbol: NAXE
NAXE
CUI: C4310675
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY 		A 0.800 CausalMutation CLINVAR
dbSNP: rs886041064
rs886041064
Entrez Id: 128240
Gene Symbol: NAXE
NAXE
CUI: C4310675
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY 		T 0.800 CausalMutation CLINVAR
dbSNP: rs886041064
rs886041064
Entrez Id: 128240
Gene Symbol: NAXE
NAXE
CUI: C4310675
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY 		0.800 GeneticVariation UNIPROT
dbSNP: rs879461
rs879461
Entrez Id: 54865;128240
Gene Symbol: GPATCH4;NAXE
GPATCH4;NAXE
CUI: C0200635
Disease:
Lymphocyte Count measurement 		0.700 GeneticVariation GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
dbSNP: rs139093330
rs139093330
Entrez Id: 128240
Gene Symbol: NAXE
NAXE
CUI: C4310675
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs371872027
rs371872027
Entrez Id: 128240
Gene Symbol: NAXE
NAXE
CUI: C4310675
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs759251812
rs759251812
Entrez Id: 128240
Gene Symbol: NAXE
NAXE
CUI: C4310675
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041062
rs886041062
Entrez Id: 54865;128240
Gene Symbol: GPATCH4;NAXE
GPATCH4;NAXE
CUI: C4310675
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs886041063
rs886041063
Entrez Id: 54865;128240
Gene Symbol: GPATCH4;NAXE
GPATCH4;NAXE
CUI: C4310675
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY 		G 0.700 CausalMutation CLINVAR