H3P22, H3 histone pseudogene 22, 115482719

N. diseases: 5; N. variants: 0
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome
0.020 GeneticVariation disease BEFREE Surprisingly, fibroblasts from Nijmegen Breakage Syndrome (NBS) patients, carrying the 657del5 hypomorphic mutation in NBS1 and expressing the p26 and p70 NBS1 fragments, accumulate HP1α indicating that, differently from NBS1 knockout cells, the presence of truncated NBS1 extends HP1α turnover and/or promotes its stability. 31836699 2019
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome
0.020 GeneticVariation disease BEFREE Since some of the newly identified interactors of the p26 and p70 fragments have not been found to interact with the full-length NBN, these interactions may somehow contribute to the key biological phenomena underpinning NBS. 25485873 2014
CUI: C0002871
Disease: Anemia
Anemia
0.010 Biomarker disease BEFREE A codon-optimized equine infectious anemia virus p26 gene was fused to a maltose-binding protein (MBP) and expressed in Escherichia coli for use as an antigen in agar gel immunodiffusion (AGID) and enzyme-linked immunosorbent assay (ELISA) for diagnosis of equine infectious anemia. 29982961 2018
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.010 Biomarker disease BEFREE The present study was to further demonstrate whether TIM could ameliorate retinal degeneration of Pde6b<sup>rd10</sup> (rd10) mice, a mouse model of RP. rd10 mice were treated with TIM by intraperitoneal injection daily from postnatal Day 10 (P10) to P26. 29480079 2018
CUI: C0243026
Disease: Sepsis
Sepsis
0.010 Biomarker disease BEFREE However a translocated LIYV P26 gene in the LIYV genome rescued systemic infection, but P26 orthologs from other criniviruses did not. 30459200 2018
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia
0.010 Biomarker phenotype BEFREE Meanwhile, high dose VNC (60 μg/kg) evoked mechanical hypersensitivity in both sexes beginning at P26 that persisted until adulthood and included both static and dynamic mechanical allodynia. 28722694 2017