MKKS, McKusick-Kaufman syndrome, 8195

N. diseases: 123; N. variants: 37
Disease: Bardet-Biedl syndrome 1 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.400 GeneticVariation disease CLINVAR Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. 28761321 2017
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.400 Biomarker disease GENOMICS_ENGLAND Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. 10802661 2000
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.400 CausalMutation disease CLINVAR