USP21, ubiquitin specific peptidase 21, 27005

N. diseases: 16; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553232770
rs1553232770
Entrez Id: 27005;51506
Gene Symbol: USP21;UFC1
USP21;UFC1
CUI: C4748081
Disease:
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH 		0.800 GeneticVariation UNIPROT Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. 29868776 2018
dbSNP: rs1553232770
rs1553232770
Entrez Id: 27005;51506
Gene Symbol: USP21;UFC1
USP21;UFC1
CUI: C4748081
Disease:
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH 		T 0.800 CausalMutation CLINVAR