Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014852
Disease: Esophageal Diseases
Esophageal Diseases 		0.010 GeneticVariation group BEFREE Recently, the rare pathogenic mutations in DHTKD1 and an increased H<sub>2</sub>O<sub>2</sub> production were linked to the genetic ethiology of Eosinophilic Esophagitis (EoE), a chronic allergic inflammatory esophageal disorder. 30847859 2019
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.010 GeneticVariation group BEFREE Both missence and nonsense mutations were identified in the DHTKD1 that lead to alpha-aminoadipic and alpha-oxoadipic aciduria, a metabolic disorder with a wide variety of the neurological abnormalities, and Charcot-Marie-Tooth disease type 2Q, an inherited neurological disorder affecting the peripheral nervous system. 30847859 2019
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		0.010 Biomarker disease BEFREE Furthermore, DHTKD1 and RBBP4 may be involved in PMOP by regulating mitochondrial dysfunction and interacting with ESR1, respectively. 30569177 2019
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.010 Biomarker disease BEFREE In order to validate this hypothesis we took advantage of an existing GA-I (Gcdh<sup>-/-</sup>) mouse model and established a Dhtkd1 deficient mouse model. 28545977 2017
CUI: C2733049
Disease: Alpha ketoadipic aciduria
Alpha ketoadipic aciduria 		0.010 GeneticVariation disease BEFREE Our results confirm that alpha-aminoadipic and alpha-ketoadipic aciduria is caused by mutations in DHTKD1, and further establish that DHTKD1 encodes the E1 subunit of the alpha-ketoadipic acid dehydrogenase complex. 25860818 2015
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.010 GeneticVariation disease BEFREE A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. 23141294 2012
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis 		0.020 GeneticVariation disease BEFREE Recently, the rare pathogenic mutations in DHTKD1 and an increased H<sub>2</sub>O<sub>2</sub> production were linked to the genetic ethiology of Eosinophilic Esophagitis (EoE), a chronic allergic inflammatory esophageal disorder. 30847859 2019
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis 		0.020 GeneticVariation disease BEFREE These data identify a series of rare genetic variants implicating DHTKD1 and OGDHL in the genetic etiology of EoE and underscore a potential pathogenic role for mitochondrial dysfunction in EoE. 29669943 2018
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: 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
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.200 Biomarker group MGD DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 29661920 2018
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker disease MGD DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 29661920 2018
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy 		0.200 Biomarker disease MGD DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 29661920 2018
CUI: C1408182
Disease: Hereditary motor and sensory neuropathy, types I-IV
Hereditary motor and sensory neuropathy, types I-IV 		0.200 Biomarker disease MGD DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 29661920 2018
CUI: C2875300
Disease: Peroneal muscular atrophy (axonal type) (hypertrophic type)
Peroneal muscular atrophy (axonal type) (hypertrophic type) 		0.200 Biomarker disease MGD DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 29661920 2018
CUI: C0002514
Disease: Amino Acid Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors 		0.200 Biomarker group MGD