Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		1.000 GermlineCausalMutation ORPHANET Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. 21765411

2011
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		1.000 GermlineCausalMutation ORPHANET Here we show that mutations in NBEAL2 (neurobeachin-like 2), which encodes a BEACH/ARM/WD40 domain protein, cause GPS and that megakaryocytes and platelets from individuals with GPS express a unique combination of NBEAL2 transcripts. 21765412

2011