Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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
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
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
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
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
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
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
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
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
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
0.760 CausalMutation disease CLINVAR
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
0.760 Biomarker disease GENOMICS_ENGLAND