MKKS, McKusick-Kaufman syndrome, 8195

N. diseases: 123; N. variants: 37
Disease: Bardet-Biedl syndrome 1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs753338844
rs753338844
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		C 0.700 GeneticVariation CLINVAR Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. 28761321 2017