Disease Term Disease ID Gene Symbol Classification References Source
Gray platelet syndrome 721 NBEAL2 Causal Pathogenic evidence from ClinVar - ClinVar
GFI1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Gray Platelet Syndrome C0272302 NBEAL2 Causal Pathogenic evidence from ClinVar 20709904, 21765411, 21765412, 21765413, 23100277, 23861251, 26987485 ClinVar
GFI1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24325358 -