Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225176
Disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 		0.600 Biomarker disease GENOMICS_ENGLAND Molecular autopsy in maternal-fetal medicine. 28749478 2018
CUI: C4225176
Disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 		0.600 CausalMutation disease CLINVAR
CUI: C4225176
Disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 		0.600 Biomarker disease CTD_human
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.420 PosttranslationalModification disease BEFREE Finally, we uncovered that β2-adrenergic signaling positively modulates expression as well as phosphorylation of p50 and p65 in SMA mouse DRGs. 31019235 2019
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.420 Biomarker disease GENOMICS_ENGLAND Molecular autopsy in maternal-fetal medicine. 28749478 2018
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.420 Biomarker disease BEFREE This confirms ASCC1 involvement in a severe neuromuscular disease lying within the spinal muscular atrophy or primary muscle disease spectra. 28218388 2017
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.420 Biomarker disease HPO
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		0.410 Biomarker disease BEFREE Three major genes, MSR1, ASCC1, and CTHRC1 were associated with BE/EAC (all P < .001). 21791690 2011
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		0.410 Biomarker disease HPO
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		0.410 Biomarker disease CTD_human
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.400 Biomarker disease GENOMICS_ENGLAND Molecular autopsy in maternal-fetal medicine. 28749478 2018
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.400 Biomarker disease HPO
CUI: C0009917
Disease: Contracture
Contracture 		0.300 Biomarker disease GENOMICS_ENGLAND Molecular autopsy in maternal-fetal medicine. 28749478 2018
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.300 Biomarker phenotype GENOMICS_ENGLAND Molecular autopsy in maternal-fetal medicine. 28749478 2018
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.300 Biomarker disease GENOMICS_ENGLAND Molecular autopsy in maternal-fetal medicine. 28749478 2018
CUI: C1258085
Disease: Barrett Epithelium
Barrett Epithelium 		0.300 Biomarker disease CTD_human
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.100 Biomarker group BEFREE Additionally, we observed no P50 suppression deficit in those EOP patients diagnosed with schizophrenia (N = 39). 31649298 2020
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 Biomarker disease BEFREE Additionally, we observed no P50 suppression deficit in those EOP patients diagnosed with schizophrenia (N = 39). 31649298 2020
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 Biomarker disease BEFREE Psychopathology of SCZ was rated by the positive and negative syndrome scale (PANSS), while cognitive function and P50 inhibition of subjects were assessed by the MATRICS Consensus Cognitive Battery (MCCB) and the electroencephalography system. 31780341 2020
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.100 Biomarker disease BEFREE Additionally, we observed no P50 suppression deficit in those EOP patients diagnosed with schizophrenia (N = 39). 31649298 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE The classical NF-κB transcription factor (RelA:p50) and the tumor suppressor Sef axis constitute a negative regulatory loop in which Sef, a target of NF-κB/RelA:p50, fine-tunes NF-κB/RelA:p50 transcriptional-activation in response to inflammatory stimuli trough binding to p50. 30862497 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE The proposed sensing system also has high selectivity and it can be used to interrogate the presence of NF-κB p50 in tumor cell extracts, demonstrating its potential for disease diagnosis and gene transcription-related studies. 31408824 2019
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.100 AlteredExpression group BEFREE Moreover, brain connectivity (HC < HR < UHR < FESZ) in the gamma band of P50 components was increasingly enhanced in accordance with the level of psychosis risks. 31111773 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 Biomarker disease BEFREE Auditory P50 gating and hippocampal volume were measured in 16 male and 15 female patients with schizophrenia. 30862179 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 Biomarker disease BEFREE Our findings provide insight into the mechanisms of P50 suppression in schizophrenia and could potentially improve the performance of early identification and diagnosis of schizophrenia for the earliest intervention. 31803031 2019