SON, SON DNA binding protein, 6651

N. diseases: 154; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015672
Disease: Fatigue
Fatigue
0.010 AlteredExpression phenotype BEFREE Rats were subjected to a treadmill running that was interrupted at three different moments: (1) at the early phase, when minimal heat dissipation occurred due to tail vasoconstriction and the tail skin temperature (T<sub>skin</sub>) reached its nadir; (2) at the steady-state phase, when both the T<sub>skin</sub> and core body temperature (T<sub>core</sub>) plateaued at a high level (~ 20 min); and (3) at fatigue, when T<sub>core</sub> and T<sub>skin</sub> were still elevated. c-Fos expression in the medial and ventromedial preoptic areas (mPOA and vmPOA), median preoptic nucleus (MnPO), paraventricular and supraoptic nucleus (PVN and SON), and septohypothalamic nucleus (SHy) was determined. 31399877 2019
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.010 Biomarker disease BEFREE Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots. 30680470 2019
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.010 Biomarker disease BEFREE Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots. 30680470 2019
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
0.010 Biomarker disease BEFREE Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots. 30680470 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.010 Biomarker group BEFREE Our data furthermore suggest a possible role of Dbp5/DDX19 in alternative translation termination events, such as during stress response or in developmental processes, which classifies the helicase as a potential drug target for nonsense suppression therapy to treat cancer and neurodegenerative diseases. 30873535 2019
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.010 GeneticVariation phenotype BEFREE Detailed phenotyping of 14 patients with SON haploinsufficiency identified kidney anomalies in 8 patients, including horseshoe kidney, unilateral renal hypoplasia, and renal cysts. 31005274 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 GeneticVariation group BEFREE Herein, we describe seven unrelated individuals with de novo variants in SON and propose that deleterious variants in SON are associated with a severe multisystem disorder characterized by developmental delay, persistent feeding difficulties, and congenital malformations, including brain anomalies. 27545676 2016
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia
0.010 Biomarker disease BEFREE SON is located within 21q22.11, a critical region for Braddock-Carey syndrome, which is characterized by congenital thrombocytopenia, intellectual disability, micrognathia, and a distinctive facies. 27256762 2016
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.010 GeneticVariation phenotype BEFREE Herein, we describe seven unrelated individuals with de novo variants in SON and propose that deleterious variants in SON are associated with a severe multisystem disorder characterized by developmental delay, persistent feeding difficulties, and congenital malformations, including brain anomalies. 27545676 2016
CUI: C2931364
Disease: Thrombocytopenia Robin sequence
Thrombocytopenia Robin sequence
0.010 Biomarker disease BEFREE Therefore, we suggest that the intellectual disability observed in Braddock-Carey syndrome could be accounted for by haploinsufficiency of SON. 27256762 2016
CUI: C0019158
Disease: Hepatitis
Hepatitis
0.010 Biomarker group BEFREE Furthermore, SON was implicated to have a key role in stem cells as well as during the onset of various diseases such as cancer, influenza, and hepatitis. 24789761 2015
CUI: C0019159
Disease: Hepatitis A
Hepatitis A
0.010 Biomarker disease BEFREE Furthermore, SON was implicated to have a key role in stem cells as well as during the onset of various diseases such as cancer, influenza, and hepatitis. 24789761 2015
CUI: C0021400
Disease: Influenza
Influenza
0.010 Biomarker disease BEFREE Notably, SON DNA binding protein (SON) was found to be important for normal trafficking of influenza virions to late endosomes early in infection. 20081832 2010
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 Biomarker disease BEFREE Knock-down of SON by siRNA resulted in significant growth arrest, and disruption of the interaction between AML1-ETO and endogenous SON rescued cells from AML1-ETO-induced growth arrest, suggesting that SON is an indispensable factor for cell growth, and AML1-ETO binding to SON may trigger signals inhibiting leukemogenesis. 18952841 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE In nude mice bearing hTERT-expressing MCF-7 xenografts, tumor radioactivity uptake of (99m)Tc-MAG3-ASON after injection was significantly higher than that of (99m)Tc-MAG3-SON after injection (P < 0.05). 18006621 2007
CUI: C0023418
Disease: leukemia
leukemia
0.020 AlteredExpression disease BEFREE Our findings define SON as a fine-tuner of the MLL-menin interaction and reveal short SON overexpression as a marker indicating aberrant transcriptional initiation in leukemia. 26990989 2016
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.020 AlteredExpression disease BEFREE Our findings define SON as a fine-tuner of the MLL-menin interaction and reveal short SON overexpression as a marker indicating aberrant transcriptional initiation in leukemia. 26990989 2016
CUI: C0023418
Disease: leukemia
leukemia
0.020 Biomarker disease BEFREE Here, we investigate the role of 2 AML1-ETO C-terminal-interacting proteins, N-CoR, a transcriptional corepressor, and SON, a splicing/transcription factor required for cell cycle progression, in AML1-ETO-induced leukemia development. 23426948 2013
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.020 Biomarker disease BEFREE Here, we investigate the role of 2 AML1-ETO C-terminal-interacting proteins, N-CoR, a transcriptional corepressor, and SON, a splicing/transcription factor required for cell cycle progression, in AML1-ETO-induced leukemia development. 23426948 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots. 30680470 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE Our data furthermore suggest a possible role of Dbp5/DDX19 in alternative translation termination events, such as during stress response or in developmental processes, which classifies the helicase as a potential drug target for nonsense suppression therapy to treat cancer and neurodegenerative diseases. 30873535 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 Biomarker group BEFREE Our data furthermore suggest a possible role of Dbp5/DDX19 in alternative translation termination events, such as during stress response or in developmental processes, which classifies the helicase as a potential drug target for nonsense suppression therapy to treat cancer and neurodegenerative diseases. 30873535 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 Biomarker group BEFREE Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots. 30680470 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE Furthermore, SON was implicated to have a key role in stem cells as well as during the onset of various diseases such as cancer, influenza, and hepatitis. 24789761 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 Biomarker group BEFREE Furthermore, SON was implicated to have a key role in stem cells as well as during the onset of various diseases such as cancer, influenza, and hepatitis. 24789761 2015