Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777012
rs587777012
FAM111A
0.800 GeneticVariation UNIPROT A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. 23996431

2014
dbSNP: rs587777012
rs587777012
FAM111A
0.800 GeneticVariation UNIPROT Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His. 24635597

2014
dbSNP: rs587777012
rs587777012
FAM111A
0.800 GeneticVariation UNIPROT FAM111A mutations result in hypoparathyroidism and impaired skeletal development. 23684011

2013
dbSNP: rs587777012
rs587777012
FAM111A
C 0.800 CausalMutation CLINVAR