MKKS, McKusick-Kaufman syndrome, 8195

N. diseases: 123; N. variants: 37
Disease: Overgrowth ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Genetics of human Bardet-Biedl syndrome, an updates. 26762677 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing. 24608809 2014
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family. 22090721 2011
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. 10802661 2000
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. 10465109 1999