RBM28, RNA binding motif protein 28, 55131

N. diseases: 44; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204055
rs118204055
Entrez Id: 55131
Gene Symbol: RBM28
RBM28
CUI: C2677535
Disease:
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 		0.800 GeneticVariation UNIPROT Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. 18439547 2008
dbSNP: rs118204055
rs118204055
Entrez Id: 55131
Gene Symbol: RBM28
RBM28
CUI: C2677535
Disease:
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 		G 0.800 CausalMutation CLINVAR