Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554366
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q 		0.900 Biomarker disease MGD DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 29661920 2018
CUI: C3554366
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q 		0.900 GermlineCausalMutation disease ORPHANET A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. 23141294 2012
CUI: C3554366
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q 		0.900 GeneticVariation disease CLINVAR
CUI: C3554366
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q 		0.900 Biomarker disease CTD_human
CUI: C3554366
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3554366
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q 		0.900 CausalMutation disease CLINVAR
CUI: C3554366
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3554366
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 CausalMutation disease CLINVAR New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria. 26141459 2016
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 GeneticVariation disease CLINVAR Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. 25860818 2015
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 CausalMutation disease CLINVAR Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. 25860818 2015
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 Biomarker disease GENOMICS_ENGLAND DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293 2012
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 GeneticVariation disease UNIPROT DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293 2012
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 CausalMutation disease CLINVAR DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293 2012
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 GeneticVariation disease CLINVAR DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293 2012
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 GermlineCausalMutation disease ORPHANET DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293 2012
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 Biomarker disease CTD_human
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.220 GeneticVariation disease BEFREE A novel mutation, c.528_530delAGT, in the gap junction protein beta 1 (GJB1) gene for CMTX, and a rare variation, c.2369C>T, in the dehydrogenase E1 and transketolase domain containing 1 (DHTKD1) gene for CMT disease type 2Q (CMT2Q), were identified in the proband and his mother. 30896807 2019
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.220 Biomarker disease BEFREE DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 29661920 2018
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.220 Biomarker disease MGD DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 29661920 2018
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.200 Biomarker disease MGD DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 29661920 2018