NBAS, NBAS subunit of NRZ tethering complex, 51594

N. diseases: 123; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3541319
Disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		0.760 Biomarker disease BEFREE NBAS deficiency causes several rare conditions ranging from isolated recurrent acute liver failure to a multisystem disorder mainly characterized by short stature, optic nerve atrophy and Pelger-Huët anomaly (SOPH). 31015584 2019
CUI: C3541319
Disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		0.760 GeneticVariation disease BEFREE Homozygous missense NBAS variants cause SOPH syndrome (short stature; optic atrophy; Pelger-Huet anomaly), the same missense variant was found in our patients on one allele and a nonsense variant in the other allele. 27789416 2017
CUI: C3541319
Disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		0.760 Biomarker disease BEFREE As NBAS gene may play an important role in retinal homeostasis, patients with SOPH should be monitored carefully for ocular abnormalities. 28115293 2017
CUI: C3541319
Disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		0.760 Biomarker disease GENOMICS_ENGLAND Homozygous missense NBAS variants cause SOPH syndrome (short stature; optic atrophy; Pelger-Huet anomaly), the same missense variant was found in our patients on one allele and a nonsense variant in the other allele. 27789416 2017
CUI: C3541319
Disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		0.760 GeneticVariation disease BEFREE Previously, biallelic mutations in NBAS have been reported to be associated with a syndrome comprising short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) specifically occurring in the Yakut population. 28031453 2017
CUI: C3541319
Disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		0.760 Biomarker disease BEFREE The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with short stature, skeletal dysplasia, immunological abnormalities, optic atrophy, and normal motor and cognitive development resembling SOPH syndrome. 26541327 2016
CUI: C3541319
Disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		0.760 GeneticVariation disease CLINVAR Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. 26073778 2015
CUI: C3541319
Disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		0.760 GeneticVariation disease 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
CUI: C3541319
Disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		0.760 GeneticVariation disease 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
CUI: C3541319
Disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		0.760 GermlineCausalMutation disease ORPHANET 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
CUI: C3541319
Disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		0.760 CausalMutation disease CLINVAR
CUI: C3541319
Disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.730 GeneticVariation disease BEFREE In this report we describe a case of Infantile liver failure syndrome 2 (ILFS2; MIM 616483) due to novel bi-allelic variants in the NBAS gene. 30558828 2019
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.730 GeneticVariation disease BEFREE Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A. 30772683 2019
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.730 GeneticVariation disease BEFREE In conclusion, two novel NBAS mutations were identified in a 4‑year‑old Chinese girl with ILFS2. 29207168 2018
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.730 CausalMutation disease CLINVAR Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS. 28576691 2017
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.730 GermlineCausalMutation disease ORPHANET Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. 26073778 2015
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.730 CausalMutation disease CLINVAR NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. 26286438 2015
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.730 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. 26073778 2015
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.730 GeneticVariation disease UNIPROT Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. 26073778 2015
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.730 GeneticVariation disease CLINVAR
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.730 Biomarker disease CTD_human
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.420 GeneticVariation phenotype BEFREE Patient 2: NBAS c.5741G>A p.(Arg1914His); c.2032C>T p.(Gln678*) in a 5-year old boy with similar presenting features, bone fragility, mild developmental delay, abnormal liver function tests and immunodeficiency. 27789416 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.420 Biomarker phenotype GENOMICS_ENGLAND Patient 1: NBAS c.5741G>A p.(Arg1914His); c.3010C>T p.(Arg1004*) in a 10-year old boy with significant short stature, bone fragility requiring treatment with bisphosphonates, developmental delay and immunodeficiency. 27789416 2017