DDX46, DEAD-box helicase 46, 9879

N. diseases: 23; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 AlteredExpression group BEFREE Some of these proteins were previously connected to different cancer types, including CLL, while four other highly expressed proteins were not previously reported to be associated with cancer, and here, for the first time, DDX46 and AK3 are linked to CLL. 27078856 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 AlteredExpression group BEFREE The expression pattern of DDX46 in cancer tissues and the role of DDX46 in CRC progression have not been determined. 25680556 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 GeneticVariation group BEFREE Functionally relevant RNA helicase mutations in familial and sporadic myeloid malignancies. 25965566 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 AlteredExpression group BEFREE Some of these proteins were previously connected to different cancer types, including CLL, while four other highly expressed proteins were not previously reported to be associated with cancer, and here, for the first time, DDX46 and AK3 are linked to CLL. 27078856 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 AlteredExpression group BEFREE The expression pattern of DDX46 in cancer tissues and the role of DDX46 in CRC progression have not been determined. 25680556 2015
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.020 Biomarker disease BEFREE Werner's syndrome (WS), a representative progeroid syndrome with chromosomal instability caused by the mutation of RecQ type DNA/RNA helicase, manifests skin changes similar to those observed in systemic sclerosis (SSc). 11138345 2001
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.020 Biomarker disease BEFREE Anti-Gu (nucleolar RNA helicase) antibodies occur in low frequencies in patients with CTDs who have antinucleolar antibodies by ANA testing, but they are not specific for SSc or the watermelon stomach lesion. 9259430 1997
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE In summary, the present results have revealed that DDX46 plays an important role in osteosarcoma growth and metastasis. 27697093 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Knockdown of DDX46 inhibited osteosarcoma cell proliferation, migration, and invasion in vitro and tumor growth in vivo. 27697093 2017
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 Biomarker disease BEFREE Knockdown of DDX46 inhibited osteosarcoma cell proliferation, migration, and invasion in vitro and tumor growth in vivo. 27697093 2017
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 Biomarker group BEFREE Here we found that nuclear DDX member DDX46 inhibited the production of type I interferons after viral infection. 28846086 2017
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 Biomarker disease BEFREE Knockdown of DDX46 inhibited osteosarcoma cell proliferation, migration, and invasion in vitro and tumor growth in vivo. 27697093 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE However, the exact role of DDX46 in osteosarcoma and the underlying mechanisms in tumorigenesis remain poorly understood. 27697093 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Knockdown of DDX46 inhibited osteosarcoma cell proliferation, migration, and invasion in vitro and tumor growth in vivo. 27697093 2017
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 Biomarker disease BEFREE Knockdown of DDX46 inhibited osteosarcoma cell proliferation, migration, and invasion in vitro and tumor growth in vivo. 27697093 2017
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 AlteredExpression disease BEFREE High DDX46 expression levels were associated with shorter survival of CLL patients and thus can serve as a prognosis marker. 27078856 2016
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 AlteredExpression disease BEFREE In this study, DDX46 expression in human ESCC and adjacent normal tissues were explored using immunohistochemistry, and ESCC cell lines compared with normal esophageal epithelium cell were quantified using real‑time PCR. 27176873 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 AlteredExpression disease BEFREE Our results showed that 87.04% of the columnar adenocarcinoma cases displayed high levels of focal nuclear DDX46 staining, and DDX46 protein expression was strongly increased in CRC tissues compared to adjacent tissues. 25680556 2015
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 GeneticVariation disease BEFREE The present study has demonstrated that plasmids expressing NS3 mutants, NS3(S139A/K210N), NS3(S139A/F444A), NS3(S139A/R461Q) and NS3(S139A/W501A), which lack both serine protease and NTPase/RNA helicase activities, would be good candidates for safe and efficient therapeutic DNA vaccines against HCV infection. 24901478 2014
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		0.010 GeneticVariation disease BEFREE Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive cerebellar ataxia associated with mutations in SETX, which encodes the senataxin protein, a DNA/RNA helicase. 24814856 2014
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		0.010 GeneticVariation disease BEFREE DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). 15106121 2004
CUI: C3468114
Disease: Juvenile amyotrophic lateral sclerosis
Juvenile amyotrophic lateral sclerosis 		0.010 GeneticVariation disease BEFREE DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). 15106121 2004
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.010 GeneticVariation disease BEFREE Werner's syndrome (WS), a representative progeroid syndrome with chromosomal instability caused by the mutation of RecQ type DNA/RNA helicase, manifests skin changes similar to those observed in systemic sclerosis (SSc). 11138345 2001
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.010 Biomarker group BEFREE Anti-Gu (nucleolar RNA helicase) antibodies occur in low frequencies in patients with CTDs who have antinucleolar antibodies by ANA testing, but they are not specific for SSc or the watermelon stomach lesion. 9259430 1997