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: 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