Disease: Kenny-Caffey syndrome, type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4316787
Disease: Kenny-Caffey syndrome, type 2
Kenny-Caffey syndrome, type 2 		0.710 GeneticVariation disease BEFREE A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. 23996431 2014
CUI: C4316787
Disease: Kenny-Caffey syndrome, type 2
Kenny-Caffey syndrome, type 2 		0.710 GeneticVariation disease UNIPROT A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. 23996431 2014
CUI: C4316787
Disease: Kenny-Caffey syndrome, type 2
Kenny-Caffey syndrome, type 2 		0.710 GeneticVariation disease UNIPROT Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His. 24635597 2014
CUI: C4316787
Disease: Kenny-Caffey syndrome, type 2
Kenny-Caffey syndrome, type 2 		0.710 Biomarker disease GENOMICS_ENGLAND FAM111A mutations result in hypoparathyroidism and impaired skeletal development. 23684011 2013
CUI: C4316787
Disease: Kenny-Caffey syndrome, type 2
Kenny-Caffey syndrome, type 2 		0.710 GeneticVariation disease UNIPROT FAM111A mutations result in hypoparathyroidism and impaired skeletal development. 23684011 2013
CUI: C4316787
Disease: Kenny-Caffey syndrome, type 2
Kenny-Caffey syndrome, type 2 		0.710 GermlineCausalMutation disease ORPHANET FAM111A mutations result in hypoparathyroidism and impaired skeletal development. 23684011 2013
CUI: C4316787
Disease: Kenny-Caffey syndrome, type 2
Kenny-Caffey syndrome, type 2 		0.710 Biomarker disease CTD_human
CUI: C4316787
Disease: Kenny-Caffey syndrome, type 2
Kenny-Caffey syndrome, type 2 		0.710 CausalMutation disease CLINVAR
CUI: C4316787
Disease: Kenny-Caffey syndrome, type 2
Kenny-Caffey syndrome, type 2 		0.710 Biomarker disease GENOMICS_ENGLAND