MKKS, McKusick-Kaufman syndrome, 8195

N. diseases: 123; N. variants: 37
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: rs113994196
rs113994196
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		ACAGG 0.700 CausalMutation CLINVAR