NAXD, NAD(P)HX dehydratase, 55739

N. diseases: 25; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.300 Biomarker disease CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.300 Biomarker group CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0235874
Disease: Disease Exacerbation
Disease Exacerbation
0.300 Biomarker phenotype CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
0.300 Biomarker disease CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype HPO
CUI: C0006114
Disease: Cerebral Edema
Cerebral Edema
0.100 Biomarker phenotype HPO
CUI: C0008489
Disease: Chorea
Chorea
0.100 Biomarker phenotype HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.100 Biomarker phenotype HPO
CUI: C0013421
Disease: Dystonia
Dystonia
0.100 Biomarker phenotype HPO
CUI: C0015230
Disease: Exanthema
Exanthema
0.100 Biomarker phenotype HPO
CUI: C0017639
Disease: Gliosis
Gliosis
0.100 Biomarker phenotype HPO
CUI: C0022107
Disease: Irritable Mood
Irritable Mood
0.100 Biomarker phenotype HPO
CUI: C0023380
Disease: Lethargy
Lethargy
0.100 Biomarker phenotype HPO
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration
0.100 Biomarker phenotype HPO
CUI: C0042963
Disease: Vomiting
Vomiting
0.100 Biomarker phenotype HPO
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
0.100 Biomarker group HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.100 Biomarker disease HPO
CUI: C0542223
Disease: Loss of speech
Loss of speech
0.100 Biomarker phenotype HPO
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis
0.100 Biomarker phenotype HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.100 Biomarker disease HPO
CUI: C1858430
Disease: Death in infancy
Death in infancy
0.100 Biomarker phenotype HPO
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion
0.100 Biomarker phenotype HPO
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE
0.100 Biomarker phenotype HPO
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.010 Biomarker group BEFREE NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. 30576410 2019
CUI: C0022578
Disease: Keratoconus
Keratoconus
0.010 Biomarker disease BEFREE In particular, showing the presence of ATP-dependent NAD(P)H-hydrate dehydratase that eliminates NADHX would strengthen our findings and would be a major step toward understanding KC. 28785876 2018