Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. 30614526

2019
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079

2010
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Mutations in the MKKS gene also cause Bardet-Biedl syndrome (BBS), a genetically heterogeneous disorder with pleiotropic symptoms. 18094050

2008
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. 10802661

2000
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 GeneticVariation CLINVAR Mutations in MKKS cause Bardet-Biedl syndrome. 10973238

2000