Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs782618876
rs782618876
Entrez Id: 5973;8260
Gene Symbol: RENBP;NAA10
RENBP;NAA10
CUI: C0524620
Disease:
Metabolic Syndrome X 		0.010 GeneticVariation BEFREE To examine this, we investigated four common polymorphisms of RAGE gene: 1704G/T (rs184003), G82S (rs2070600), -374T/A (rs1800624) and -429T/C (rs1800625) in 340 obese patients with metabolic syndrome. and protein levels of AGE and RAGE. 29928018 2018
dbSNP: rs587776457
rs587776457
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C0796016
Disease:
Microphthalmia, syndromic 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs782618876
rs782618876
Entrez Id: 5973;8260
Gene Symbol: RENBP;NAA10
RENBP;NAA10
CUI: C0028754
Disease:
Obesity 		0.010 GeneticVariation BEFREE The -374T/A and -429T/C did not show positive interaction with obesity and smoking status. 22987041 2012
dbSNP: rs387906701
rs387906701
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		0.840 GeneticVariation BEFREE Our findings expand the clinical spectrum of NAA10 and suggest that the proposed correlation between mutant Naa10 enzyme activity and phenotype severity is more complex than anticipated; the p.Tyr43Ser mutant enzyme has less catalytic activity than the p.Ser37Pro mutant associated with lethal Ogden syndrome but results in a milder phenotype. 26522270 2015
dbSNP: rs387906701
rs387906701
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		0.840 GeneticVariation BEFREE In conclusion, the data presented here further support the disruptive nature of the S37P/Ogden mutation and identify affected cellular processes potentially contributing to the severe phenotype seen in Ogden syndrome. 27668839 2017
dbSNP: rs387906701
rs387906701
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		0.840 GeneticVariation BEFREE A single hypomorphic missense variant p.(Ser37Pro) was previously associated with Ogden syndrome in eight affected males from two different families. 25099252 2015
dbSNP: rs387906701
rs387906701
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		0.840 GeneticVariation UNIPROT Our findings expand the clinical spectrum of NAA10 and suggest that the proposed correlation between mutant Naa10 enzyme activity and phenotype severity is more complex than anticipated; the p.Tyr43Ser mutant enzyme has less catalytic activity than the p.Ser37Pro mutant associated with lethal Ogden syndrome but results in a milder phenotype. 26522270 2015
dbSNP: rs387906701
rs387906701
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		0.840 GeneticVariation UNIPROT Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. 25489052 2015
dbSNP: rs387906701
rs387906701
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		0.840 GeneticVariation UNIPROT A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly. 31174490 2019
dbSNP: rs387906701
rs387906701
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		0.840 GeneticVariation BEFREE NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser37Pro in NAA10, originally described as Ogden syndrome, to the milder NAA10-related intellectual disability found with different variants in both males and females. 30054457 2018
dbSNP: rs387906701
rs387906701
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		G 0.840 CausalMutation CLINVAR
dbSNP: rs387906701
rs387906701
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		0.840 GeneticVariation UNIPROT Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. 21700266 2011
dbSNP: rs863225427
rs863225427
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		0.810 GeneticVariation BEFREE Our findings expand the clinical spectrum of NAA10 and suggest that the proposed correlation between mutant Naa10 enzyme activity and phenotype severity is more complex than anticipated; the p.Tyr43Ser mutant enzyme has less catalytic activity than the p.Ser37Pro mutant associated with lethal Ogden syndrome but results in a milder phenotype. 26522270 2015
dbSNP: rs863225427
rs863225427
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		G 0.810 CausalMutation CLINVAR
dbSNP: rs863225427
rs863225427
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		0.810 GeneticVariation UNIPROT Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. 25489052 2015
dbSNP: rs863225427
rs863225427
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		0.810 GeneticVariation UNIPROT Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. 21700266 2011
dbSNP: rs863225427
rs863225427
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		0.810 GeneticVariation UNIPROT A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly. 31174490 2019
dbSNP: rs863225427
rs863225427
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		0.810 GeneticVariation UNIPROT Our findings expand the clinical spectrum of NAA10 and suggest that the proposed correlation between mutant Naa10 enzyme activity and phenotype severity is more complex than anticipated; the p.Tyr43Ser mutant enzyme has less catalytic activity than the p.Ser37Pro mutant associated with lethal Ogden syndrome but results in a milder phenotype. 26522270 2015
dbSNP: rs1057519448
rs1057519448
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		G 0.700 GeneticVariation CLINVAR Lessons learned from additional research analyses of unsolved clinical exome cases. 28327206 2017
dbSNP: rs1057519448
rs1057519448
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1557107462
rs1557107462
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1557107528
rs1557107528
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1557107543
rs1557107543
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1569546255
rs1569546255
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587780562
rs587780562
Entrez Id: 393;8260
Gene Symbol: ARHGAP4;NAA10
ARHGAP4;NAA10
CUI: C3275447
Disease:
Ogden syndrome 		A 0.700 CausalMutation CLINVAR