Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 51594
Gene Symbol: NBAS
NBAS 		NBAS subunit of NRZ tethering complex 0.566 0.692 5.0E-43
CUI: C3541319
Disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		disease 0.760 None 1.000 1 0 2010 2019
Entrez Id: 51594
Gene Symbol: NBAS
NBAS 		NBAS subunit of NRZ tethering complex 0.566 0.692 5.0E-43
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		disease 0.730 None 1.000 1 0 2015 2019
Entrez Id: 51594
Gene Symbol: NBAS
NBAS 		NBAS subunit of NRZ tethering complex 0.566 0.692 5.0E-43
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.420 strong 1.000 1 0 2015 2017
Entrez Id: 51594
Gene Symbol: NBAS
NBAS 		NBAS subunit of NRZ tethering complex 0.566 0.692 5.0E-43
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.320 strong 1.000 1 0 2015 2017
Entrez Id: 51594
Gene Symbol: NBAS
NBAS 		NBAS subunit of NRZ tethering complex 0.566 0.692 5.0E-43
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 51594
Gene Symbol: NBAS
NBAS 		NBAS subunit of NRZ tethering complex 0.566 0.692 5.0E-43
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		phenotype 0.300 strong 1.000 1 0 2017 2017