NBAS, NBAS subunit of NRZ tethering complex, 51594

N. diseases: 123; N. variants: 22
Disease: Developmental delay (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1310897090
rs1310897090
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C0424605
Disease:
Developmental delay (disorder) 		0.010 GeneticVariation 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