Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 AlteredExpression disease BEFREE LncRNA MAFG-AS1 promotes the progression of colorectal cancer by sponging miR-147b and activation of NDUFA4. 30348529 2018
Malignant neoplasm of colon and/or rectum
0.010 AlteredExpression disease BEFREE LncRNA MAFG-AS1 promotes the progression of colorectal cancer by sponging miR-147b and activation of NDUFA4. 30348529 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 AlteredExpression phenotype BEFREE Mechanism aspect, global gene expression analysis showed that downregulation of NDUFA4, a novel target of miR-7, contributed to the effects of miR-7 expression operated by TTF-1 promoter on the growth and metastasis of human lung cancer cells, as well as altered transduction of the Akt and Erk pathway. 28325285 2017
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases
0.010 GeneticVariation group BEFREE The present study suggests that the critical region associated with Dandy-Walker malformation is restricted to 7p21.3, including the cerebellar disease associated genes NDUFA4 and PHF14. 22617776 2012
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome
0.010 GeneticVariation disease BEFREE The present study suggests that the critical region associated with Dandy-Walker malformation is restricted to 7p21.3, including the cerebellar disease associated genes NDUFA4 and PHF14. 22617776 2012
CUI: C0241210
Disease: Speech Delay
Speech Delay
0.010 Biomarker disease BEFREE The deletion affects three genes (GPR63, NDUFA4 and KLHL32) and overlaps a region previously found deleted in a girl with autistic features and speech delay. 23253088 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE These 14 differentially expressed genes, only 6 of which have previously been associated with RCC, are related to tumour growth/survival (EGFR, cyclin D1, insulin-like growth factor-binding protein-1 and a MLRQ sub-unit homologue of the NADH:ubiquinone oxidoreductase complex), angiogenesis (vascular endothelial growth factor, endothelial PAS domain protein-1, ceruloplasmin, angiopoietin-related protein 2) and cell adhesion/motility (protocadherin 2, cadherin 6, autotaxin, vimentin, lysyl oxidase and semaphorin G). 11720477 2001
CUI: C0002871
Disease: Anemia
Anemia
0.100 Biomarker disease HPO
CUI: C0003578
Disease: Apnea
Apnea
0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.100 Biomarker disease HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria
0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia
0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.100 Biomarker disease HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.100 Biomarker group HPO
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
0.100 Biomarker disease HPO
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 Biomarker disease HPO
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia
0.100 Biomarker phenotype HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis
0.100 Biomarker disease HPO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures
0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.100 Biomarker disease HPO