Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3807541
Disease: MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.110 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C0000921
Disease: Accidental Falls
Accidental Falls 		0.100 Biomarker phenotype HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0031212
Disease: Personality Disorders
Personality Disorders 		0.100 Biomarker group HPO
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.100 Biomarker group HPO
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.100 Biomarker phenotype HPO
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		0.100 Biomarker disease HPO
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.100 Biomarker disease HPO
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure 		0.100 Biomarker disease HPO
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.100 Biomarker phenotype HPO
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 Biomarker disease HPO
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		0.100 Biomarker phenotype HPO
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		0.100 Biomarker phenotype HPO
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		0.100 Biomarker disease HPO
CUI: C4023479
Disease: EEG with focal sharp slow waves
EEG with focal sharp slow waves 		0.100 Biomarker phenotype HPO
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.050 Biomarker disease BEFREE The p493F12 gene maps to the human chromosome 21q21 region, a region that may be important in the pathogenesis of AD and Down's syndrome. 7826642 1995
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 Biomarker disease BEFREE The p493F12 gene maps to the human chromosome 21q21 region, a region that may be important in the pathogenesis of AD and Down's syndrome. 7826642 1995
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 Biomarker disease BEFREE The p493F12 gene maps to the human chromosome 21q21 region, a region that may be important in the pathogenesis of AD and Down's syndrome. 7826642 1995
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 Biomarker group BEFREE Together with prior evidence that, in JNK3-deficient mice, the JNK3 signaling pathway mediates apoptosis in central nervous tissue, our results suggest that loss of expression of the JNK3 gene may play an important role in the development of brain tumors in humans. 11322657 2001
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		0.010 Biomarker disease BEFREE Genes expressed at higher levels in tFL than EBV(-)BL and EBV(+)BL included calcium/calmodulin-dependent protein kinase I (CAMK1) and mitogen-activated protein kinase 10 (MAPK10). 12967475 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE The conclusion that JNK can act as a tumor suppressor is consistent with the presence of loss-of-function mutations in JNK pathway components (Jnk3 and Mkk4) in human tumors. 12734425 2003
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma 		0.010 Biomarker disease BEFREE Genes expressed at higher levels in tFL than EBV(-)BL and EBV(+)BL included calcium/calmodulin-dependent protein kinase I (CAMK1) and mitogen-activated protein kinase 10 (MAPK10). 12967475 2003