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 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 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: C0002514
Disease: Amino Acid Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors 		0.200 Biomarker group MGD
CUI: C0020580
Disease: Hypesthesia
Hypesthesia 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 Biomarker disease HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C4538604
Disease: Alpha-aminoadipic aciduria
Alpha-aminoadipic aciduria 		0.100 Biomarker phenotype HPO
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: 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