BMS1, BMS1 ribosome biogenesis factor, 9790

N. diseases: 192; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777706
rs587777706
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
CUI: C0282160
Disease:
Aplasia Cutis Congenita 		0.810 GeneticVariation UNIPROT Mutations that affect ribosomal function can result in a cell cycle defect and ACC skin fibroblasts with the BMS1 p.R930H mutation show a reduced cell proliferation rate due to a p21-mediated G1/S phase transition delay. 23785305 2013
dbSNP: rs587777706
rs587777706
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
CUI: C0282160
Disease:
Aplasia Cutis Congenita 		0.810 GeneticVariation BEFREE Mutations that affect ribosomal function can result in a cell cycle defect and ACC skin fibroblasts with the BMS1 p.R930H mutation show a reduced cell proliferation rate due to a p21-mediated G1/S phase transition delay. 23785305 2013
dbSNP: rs587777706
rs587777706
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
CUI: C0282160
Disease:
Aplasia Cutis Congenita 		A 0.810 CausalMutation CLINVAR
dbSNP: rs755403632
rs755403632
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
CUI: C0007785
Disease:
Cerebral Infarction 		0.010 GeneticVariation BEFREE There was no significant difference in allele and genotype distributions of -1154G/A, 936C/T and -2578C/A with the risk of acute cerebral infarction when compared with controls. 21757917 2011
dbSNP: rs1346351465
rs1346351465
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.010 GeneticVariation BEFREE We have discovered a novel missense mutation (substitution of Thr for Ala4) in exon 1 (GCC to ACC) in two FALS patients from one Japanese FALS family. 8179602 1994