CEP19, centrosomal protein 19, 84984

N. diseases: 21; N. variants: 2
Disease: Bardet-Biedl Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553794304
rs1553794304
Entrez Id: 54965;84984
Gene Symbol: PIGX;CEP19
PIGX;CEP19
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		GT 0.700 CausalMutation CLINVAR Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. 29127258 2018