CUL4B, cullin 4B, 8450

N. diseases: 162; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0575802
Disease: Small hand
Small hand 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation phenotype CLINVAR
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.100 Biomarker phenotype HPO
CUI: C1843108
Disease: Short palm
Short palm 		0.100 Biomarker phenotype HPO
CUI: C0521525
Disease: Short neck
Short neck 		0.100 Biomarker phenotype HPO
CUI: C0576226
Disease: Short foot
Short foot 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.410 GeneticVariation phenotype BEFREE We confirmed a genetic diagnosis in five patients (36%): epileptic encephalopathy associated with autosomal dominant de novo variants in SCN2A (p.Met1545Val), KCNQ2 (p.Asp212Tyr), and GNAO1 (p.Gly40Arg); lipoic acid synthetase deficiency due to compound heterozygous variants in LIAS (p.Ala253Pro and p.His236Gln); and encephalopathy associated with an X-linked variant in CUL4B (p.Asn211Ser).ConclusionWES is helpful at arriving genetic diagnoses in neonatal encephalopathy and/or seizures and brain damage. 28817111 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.410 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker phenotype GENOMICS_ENGLAND Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair. 22182342 2012
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 AlteredExpression disease BEFREE In this study, we found that CUL4B was significantly overexpressed in GC tissues and its overexpression was correlated with lymph node metastasis and poor prognosis. 29106389 2018
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C1840069
Disease: Sandal gap
Sandal gap 		0.100 Biomarker phenotype HPO
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		0.100 Biomarker disease HPO
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.030 AlteredExpression disease BEFREE Here, we show that CUL4B expression highly correlates with the aggressiveness of PCa. 30872583 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.030 AlteredExpression disease BEFREE CUL4B is significantly overexpressed in PCa tissues compared with benign prostatic tissues and its overexpression is correlated with poor prognosis. 30609075 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.030 AlteredExpression disease BEFREE CUL4B promotes PCa pluripotency-associated markers expression, sphere formation, and anchorage-independent growth ability in vitro. 31111526 2019
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 Biomarker disease BEFREE Dysregulation of CUL4A and CUL4B Ubiquitin Ligases in Lung Cancer. 27974468 2017
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 Biomarker disease BEFREE The function of miR-194 as a negative regulator of CUL4B has therapeutic implications in lung cancer. 28164432 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.070 Biomarker group BEFREE Western blot analysis, sphere formation, and colony formation assays were used to examine the effect of CUL4B on cancer stem-like traits in PCa cells. 31111526 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.070 AlteredExpression group BEFREE We conclude that CUL4B can up-regulate Wnt/β-catenin signalling in human HCC through transcriptionally repressing Wnt antagonists and thus contributes to the malignancy of HCC. 25430888 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.070 AlteredExpression group BEFREE Cullin 4B (CUL4B) is over-expressed in diverse cancer types. 26617747 2015