NBAS, NBAS subunit of NRZ tethering complex, 51594

N. diseases: 123; N. variants: 22
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369698072
rs369698072
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3541319
Disease:
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		0.820 GeneticVariation BEFREE Absence of severe liver problems in this case and SOPH-affected Yakut subjects suggests that individuals carrying the NBAS missense mutation p.(Arg1914His) are less susceptible to developing ALF. 28031453 2017
dbSNP: rs369698072
rs369698072
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3541319
Disease:
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		0.820 GeneticVariation BEFREE Subsequently, 33 of 34 patients were identified with SOPH syndrome and had a 5741G/A nucleotide substitution (resulting in the amino acid substitution R1914H) in the NBAS gene in the homozygous state. 20577004 2010
dbSNP: rs369698072
rs369698072
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3541319
Disease:
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		0.820 GeneticVariation UNIPROT Subsequently, 33 of 34 patients were identified with SOPH syndrome and had a 5741G/A nucleotide substitution (resulting in the amino acid substitution R1914H) in the NBAS gene in the homozygous state. 20577004 2010
dbSNP: rs369698072
rs369698072
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3541319
Disease:
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		T 0.820 CausalMutation CLINVAR
dbSNP: rs368196005
rs368196005
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3809651
Disease:
INFANTILE LIVER FAILURE SYNDROME 2 		0.810 GeneticVariation BEFREE Fibroblasts of a patient with Infantile Liver Failure Syndrome 2 (OMIM #616483) due to a homozygous missense variant in the neuroblastoma amplified sequence gene (NBAS; c.[2708T>G]; c.[2708T>G]/p. 30772683 2019
dbSNP: rs368196005
rs368196005
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3809651
Disease:
INFANTILE LIVER FAILURE SYNDROME 2 		0.810 GeneticVariation UNIPROT Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. 26073778 2015
dbSNP: rs368196005
rs368196005
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3809651
Disease:
INFANTILE LIVER FAILURE SYNDROME 2 		C 0.810 CausalMutation CLINVAR
dbSNP: rs796052121
rs796052121
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3809651
Disease:
INFANTILE LIVER FAILURE SYNDROME 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs796052121
rs796052121
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3809651
Disease:
INFANTILE LIVER FAILURE SYNDROME 2 		0.800 GeneticVariation UNIPROT
dbSNP: rs9287655
rs9287655
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C0524909
Disease:
Hepatitis B, Chronic 		0.700 GeneticVariation GWASCAT Genetic variation in FCER1A predicts peginterferon alfa-2a-induced hepatitis B surface antigen clearance in East Asian patients with chronic hepatitis B. 30972912 2019
dbSNP: rs10929355
rs10929355
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C1269683
Disease:
Major Depressive Disorder 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways. 29662059 2018
dbSNP: rs1430797
rs1430797
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs1430797
rs1430797
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs2111449
rs2111449
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs748880753
rs748880753
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3809651
Disease:
INFANTILE LIVER FAILURE SYNDROME 2 		G 0.700 CausalMutation CLINVAR Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS. 28576691 2017
dbSNP: rs770446752
rs770446752
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3809651
Disease:
INFANTILE LIVER FAILURE SYNDROME 2 		T 0.700 CausalMutation CLINVAR Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS. 28576691 2017
dbSNP: rs2033354
rs2033354
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C0520679
Disease:
Sleep Apnea, Obstructive 		T 0.700 GeneticVariation GWASCAT Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans. 26977737 2016
dbSNP: rs140841721
rs140841721
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3809651
Disease:
INFANTILE LIVER FAILURE SYNDROME 2 		0.700 GeneticVariation UNIPROT Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. 26073778 2015
dbSNP: rs368085185
rs368085185
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C0424605
Disease:
Developmental delay (disorder) 		A 0.700 CausalMutation CLINVAR NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. 26286438 2015
dbSNP: rs368085185
rs368085185
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3809651
Disease:
INFANTILE LIVER FAILURE SYNDROME 2 		A 0.700 CausalMutation CLINVAR NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. 26286438 2015
dbSNP: rs796052121
rs796052121
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3541319
Disease:
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		G 0.700 GeneticVariation CLINVAR Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. 26073778 2015
dbSNP: rs1085307944
rs1085307944
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3809651
Disease:
INFANTILE LIVER FAILURE SYNDROME 2 		0.700 GeneticVariation UNIPROT
dbSNP: rs1131692171
rs1131692171
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3541319
Disease:
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs143212851
rs143212851
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3541319
Disease:
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs748880753
rs748880753
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3809651
Disease:
INFANTILE LIVER FAILURE SYNDROME 2 		G 0.700 GeneticVariation CLINVAR