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 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 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 Biomarker disease CTD_human
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 CausalMutation disease CLINVAR
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 GENOMICS_ENGLAND
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: 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: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.100 Biomarker disease HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.030 Biomarker disease BEFREE This review summarizes the current knowledge about the splice isoforms of VEGFA, UGT1A, PXR, cyclin D1, BIRC5 (survivin), DPD, K-RAS, SOX9, SLC39A14 and other genes, which may be possible therapeutic targets for colorectal cancer. 23118106 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.030 Biomarker disease BEFREE Alternative splicing of SLC39A14 in colorectal cancer is regulated by the Wnt pathway. 20938052 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.030 Biomarker disease BEFREE However, analyses of ten nondysplastic biopsies from patients with active inflammatory bowel disease showed negative results in seven samples and only weakly positive results in three samples, suggesting value of SLC39A14-exon4B as a marker to distinguish CRC from other pathologic conditions of the colon. 22173985 2012
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 Biomarker disease BEFREE Alternative splicing of SLC39A14 in colorectal cancer is regulated by the Wnt pathway. 20938052 2011
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 Biomarker disease BEFREE The exon-level biomarker SLC39A14 has organ-confined cancer-specificity in colorectal cancer. 22173985 2012