Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2
0.700 GermlineCausalMutation disease ORPHANET Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. 29685658 2018
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2
0.700 GermlineCausalMutation disease ORPHANET Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system. 29382362 2018
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2
0.700 GeneticVariation disease UNIPROT Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. 27231142 2016
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2
0.700 Biomarker disease GENOMICS_ENGLAND Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. 27231142 2016
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2
0.700 GermlineCausalMutation disease ORPHANET Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. 27231142 2016
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2
0.700 Biomarker disease GENOMICS_ENGLAND Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. 27231142 2016
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2
0.700 Biomarker disease CTD_human
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2
0.700 CausalMutation disease CLINVAR
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1840404
Disease: Hyperostosis Cranialis Interna
Hyperostosis Cranialis Interna
0.400 GeneticVariation phenotype UNIPROT Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis. 29621230 2018
CUI: C1840404
Disease: Hyperostosis Cranialis Interna
Hyperostosis Cranialis Interna
0.400 Biomarker phenotype HPO
CUI: C0677050
Disease: Manganese Poisoning
Manganese Poisoning
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
CUI: C0035228
Disease: Respiratory Hypersensitivity
Respiratory Hypersensitivity
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
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
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
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
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
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.120 Biomarker group HPO
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
0.100 Biomarker disease HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
0.100 Biomarker disease HPO
Sensorineural Hearing Loss (disorder)
0.100 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
0.100 Biomarker phenotype HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 Biomarker disease HPO
CUI: C0040264
Disease: Tinnitus
Tinnitus
0.100 Biomarker phenotype HPO
CUI: C0040822
Disease: Tremor
Tremor
0.100 Biomarker phenotype HPO