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: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Genetics of human Bardet-Biedl syndrome, an updates. 26762677

2016
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing. 24608809

2014
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family. 22090721

2011
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. 10802661

2000
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. 10465109

1999