TRAF7, TNF receptor associated factor 7, 84231

N. diseases: 82; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748484
Disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY 		0.600 Biomarker disease GENOMICS_ENGLAND De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. 29961569 2018
CUI: C4748484
Disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY 		0.600 Biomarker disease GENOMICS_ENGLAND De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. 29961569 2018
CUI: C4748484
Disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY 		0.600 GeneticVariation disease UNIPROT De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. 29961569 2018
CUI: C4748484
Disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY 		0.600 Biomarker disease GENOMICS_ENGLAND Excess of rare, inherited truncating mutations in autism. 25961944 2015
CUI: C4748484
Disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY 		0.600 Biomarker disease GENOMICS_ENGLAND Excess of rare, inherited truncating mutations in autism. 25961944 2015
CUI: C4748484
Disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY 		0.600 CausalMutation disease CLINVAR
CUI: C4748484
Disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY 		0.600 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 GeneticVariation disease BEFREE De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. 29961569 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease GENOMICS_ENGLAND Excess of rare, inherited truncating mutations in autism. 25961944 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease GENOMICS_ENGLAND Excess of rare, inherited truncating mutations in autism. 25961944 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 CausalMutation disease CLINVAR
CUI: C0025286
Disease: Meningioma
Meningioma 		0.390 GeneticVariation disease BEFREE Specifically, TRAF7 mutations could play a key role in skull base meningiomas by regulating the expression of inhibitory immune checkpoints and thus suppressing immune responses. 31177425 2019
CUI: C0025286
Disease: Meningioma
Meningioma 		0.390 GeneticVariation disease BEFREE Characteristic AKT/SMO, KLF4/TRAF7 and pTERT genetic alterations seen in adults are distinctly absent in pediatric meningiomas. 28901666 2018
CUI: C0025286
Disease: Meningioma
Meningioma 		0.390 GeneticVariation disease BEFREE We found a higher frequency of PIK3CA mutations [14/40 (35%) versus 18/530 (3%), P < 10-8] and TRAF7 mutations [16/40 (40%) versus 140/530 (26%), P < 0.001] and a lower frequency of NF2-related tumors compared with the control population of meningiomas [3/40 (7.5%) versus 169/530 (32%), P < 0.001]. 29206892 2018
CUI: C0025286
Disease: Meningioma
Meningioma 		0.390 GeneticVariation disease BEFREE The importance of NF2 (neurofibromin 2), TRAF7 (tumor necrosis factor [TNF] receptor-associated factor 7), KLF4 (Kruppel-like factor 4), AKT1, SMO (smoothened), PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), and POLR2 (RNA polymerase II subunit A) demonstrates that there are at least 6 distinct mutational classes of meningiomas. 29852774 2018
CUI: C0025286
Disease: Meningioma
Meningioma 		0.390 GeneticVariation disease BEFREE In addition, these cell lines also harbored known meningioma driver mutations in neurofibromin 2 (NF2) and TNF receptor-associated factor 7 (TRAF7). 28552950 2017
CUI: C0025286
Disease: Meningioma
Meningioma 		0.390 GeneticVariation disease BEFREE Ten of 16 (60%) tumor cases had mutations in the WD40 domain of TRAF7, the same location for causal mutations of meningiomas. 28019650 2017
CUI: C0025286
Disease: Meningioma
Meningioma 		0.390 Biomarker disease BEFREE After targeted sequencing of known mutated genes in meningiomas, we discovered TRAF7 mutations in two out of four tumors, stressing the importance of focusing the research efforts of the meningioma community in understanding the mechanisms underlying TRAF7 related meningioma tumorigenesis. 28536991 2017
CUI: C0025286
Disease: Meningioma
Meningioma 		0.390 GeneticVariation disease BEFREE We report genomic analysis of 300 meningiomas, the most common primary brain tumors, leading to the discovery of mutations in TRAF7, a proapoptotic E3 ubiquitin ligase, in nearly one-fourth of all meningiomas. 23348505 2013
CUI: C0025286
Disease: Meningioma
Meningioma 		0.390 GeneticVariation disease BEFREE In conclusion, our findings suggest an essential contribution of combined KLF4 K409Q and TRAF7 mutations in the genesis of secretory meningioma and demonstrate a role for TRAF7 alterations in other non-NF2 meningiomas. 23404370 2013
CUI: C0025286
Disease: Meningioma
Meningioma 		0.390 CausalMutation disease CGI
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		0.310 GeneticVariation disease BEFREE Together, these studies demonstrate that well-differentiated papillary mesothelioma is genetically defined by mutually exclusive mutations in TRAF7 and CDC42 that molecularly distinguish this entity from malignant mesothelioma. 30171198 2019
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		0.310 Biomarker disease CTD_human Comprehensive genomic analysis of malignant pleural mesothelioma identifies recurrent mutations, gene fusions and splicing alterations. 26928227 2016
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.300 Biomarker group GENOMICS_ENGLAND Excess of rare, inherited truncating mutations in autism. 25961944 2015