Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GermlineCausalMutation | disease | ORPHANET | Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. | 29685658 | 2018 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system. | 29382362 | 2018 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. | 27231142 | 2016 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. | 27231142 | 2016 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. | 27231142 | 2016 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. | 27231142 | 2016 | ||||
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.700 | CausalMutation | disease | CLINVAR | |||||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.400 | GeneticVariation | phenotype | UNIPROT | Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis. | 29621230 | 2018 | ||||
|
0.400 | Biomarker | phenotype | HPO | |||||||
|
0.300 | Biomarker | disease | CTD_human | Hypothyroidism induced by loss of the manganese efflux transporter SLC30A10 may be explained by reduced thyroxine production. | 28860195 | 2017 | ||||
|
0.300 | Biomarker | phenotype | CTD_human | Anti-inflammatory effects of zinc and alterations in zinc transporter mRNA in mouse models of allergic inflammation. | 17085522 | 2007 | ||||
|
0.120 | Biomarker | group | BEFREE | Zip14 ablation in mice produces a defect in manganese excretion that leads to excess manganese accumulation in the brain that produces characteristics of Parkinsonism. | 29490098 | 2018 | ||||
|
0.120 | GeneticVariation | group | BEFREE | Mutations in SLC39A14 cause a recessive disorder of manganese (Mn) metabolism that manifests as childhood onset progressive neurodegeneration characterized by parkinsonism and dystonia. | 29498153 | 2018 | ||||
|
0.120 | Biomarker | group | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO |