NBAS, NBAS subunit of NRZ tethering complex, 51594

N. diseases: 123; N. variants: 22
Disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY ×
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