Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia 		0.720 GeneticVariation disease BEFREE Additionally, FAM111A is a poorly characterized cellular protein whose mutation leads to two severe human syndromes, Kenny-Caffey syndrome and osteocraniostenosis. 30333173 2019
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia 		0.720 Biomarker disease GENOMICS_ENGLAND Molecular modeling of FAM111A shows that residues affected by KCS and OCS mutations do not map close to the active site but are clustered on a segment of the protein and are at, or close to, its outer surface, suggesting that the pathogenesis involves the interaction with as yet unidentified partner proteins rather than impaired catalysis. 23684011 2013
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia 		0.720 GeneticVariation disease BEFREE Molecular modeling of FAM111A shows that residues affected by KCS and OCS mutations do not map close to the active site but are clustered on a segment of the protein and are at, or close to, its outer surface, suggesting that the pathogenesis involves the interaction with as yet unidentified partner proteins rather than impaired catalysis. 23684011 2013
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia 		0.720 GermlineCausalMutation disease ORPHANET Molecular modeling of FAM111A shows that residues affected by KCS and OCS mutations do not map close to the active site but are clustered on a segment of the protein and are at, or close to, its outer surface, suggesting that the pathogenesis involves the interaction with as yet unidentified partner proteins rather than impaired catalysis. 23684011 2013
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia 		0.720 GeneticVariation disease CLINVAR Molecular modeling of FAM111A shows that residues affected by KCS and OCS mutations do not map close to the active site but are clustered on a segment of the protein and are at, or close to, its outer surface, suggesting that the pathogenesis involves the interaction with as yet unidentified partner proteins rather than impaired catalysis. 23684011 2013
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia 		0.720 GeneticVariation disease UNIPROT Molecular modeling of FAM111A shows that residues affected by KCS and OCS mutations do not map close to the active site but are clustered on a segment of the protein and are at, or close to, its outer surface, suggesting that the pathogenesis involves the interaction with as yet unidentified partner proteins rather than impaired catalysis. 23684011 2013
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia 		0.720 CausalMutation disease CLINVAR
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia 		0.720 Biomarker disease CTD_human
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
CUI: C0265291
Disease: Kenny-Caffey syndrome
Kenny-Caffey syndrome 		0.510 GeneticVariation disease BEFREE Additionally, FAM111A is a poorly characterized cellular protein whose mutation leads to two severe human syndromes, Kenny-Caffey syndrome and osteocraniostenosis. 30333173 2019
CUI: C0265291
Disease: Kenny-Caffey syndrome
Kenny-Caffey syndrome 		0.510 GermlineCausalMutation disease ORPHANET FAM111A mutations result in hypoparathyroidism and impaired skeletal development. 23684011 2013
CUI: C0265291
Disease: Kenny-Caffey syndrome
Kenny-Caffey syndrome 		0.510 Biomarker disease GENOMICS_ENGLAND
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.110 GeneticVariation disease BEFREE FAM111A mutations result in hypoparathyroidism and impaired skeletal development. 23684011 2013
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.110 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0003076
Disease: Aniridia
Aniridia 		0.100 Biomarker disease HPO