Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2191
Gene Symbol: FAP
FAP
0.010 Biomarker disease BEFREE Familial aggregation in multiplex families with CNS cancers was mainly attributed to neurofibromatosis and in colorectal cancer to FAP- and HNPCC-syndromes. 31199509 2020
Entrez Id: 7035
Gene Symbol: TFPI
TFPI
0.010 Biomarker disease BEFREE DTI with readout-segmented multi-shot EPI technique can better visualize the optic pathway and allow more confident measurements of anisotropy in NF1 patients. 30684113 2019
Entrez Id: 92737
Gene Symbol: DNER
DNER
0.010 Biomarker disease BEFREE BET bromodomain inhibitors have emerged as a promising therapy for numerous cancer types in preclinical studies, including neurofibromatosis type 1 (NF1)-associated malignant peripheral nerve sheath tumor (MPNST). 30796033 2019
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
0.010 AlteredExpression disease BEFREE Epithelioid malignant peripheral nerve sheath tumors (EMPNST) are characterized by diffuse S-100 and SOX10 positivity, frequent immunohistochemical loss of SMARCB1 expression (70%), and rare association with neurofibromatosis type 1. 30864974 2019
Entrez Id: 2047
Gene Symbol: EPHB1
EPHB1
0.010 Biomarker disease BEFREE The coincidence of GIST and NET is almost pathognomonic for NF1 and should raise a suspicion of this rare disorder in clinical practice. 31301733 2019
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
0.010 Biomarker disease BEFREE The patient with NF1 had elevated circulating FGF23. 31476437 2019
Entrez Id: 3976
Gene Symbol: LIF
LIF
0.010 Biomarker disease BEFREE Here, we identified specific TCTP-interacting proteins by sequential affinity purification and data-independent mass spectrometry acquisition (AP-DIA/SWATH) to investigate the role of TCTP in NF1-associated malignant tumors. 30381327 2019
Entrez Id: 56994
Gene Symbol: CHPT1
CHPT1
0.010 GeneticVariation disease BEFREE Our findings would facilitate the interpretation of NF1 pathogenic variants in CPT genetic counseling. 31533797 2019
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.010 GeneticVariation disease BEFREE SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis. 30828344 2019
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.010 Biomarker disease BEFREE Vitamin D receptor in NF1-tumors was examined by means of immunohistochemistry using an antibody against the vitamin D1 receptor. 30299316 2019
Entrez Id: 1978
Gene Symbol: EIF4EBP1
EIF4EBP1
0.010 AlteredExpression disease BEFREE The activity of mTORC1 signaling (p-mTORC1, p-S6K1, and p-4EBP1) was significantly upregulated in the NF1-siRNA group and significantly inhibited in the NF1-pcDNA3.0 group, 7 and 14 days after culture. 29266342 2019
Entrez Id: 5599
Gene Symbol: MAPK8
MAPK8
0.010 AlteredExpression disease BEFREE The DUSP inhibitor, BCI, diminished the survival of NF1-deleted Schwann cells and MPNST cell lines through activation of JNK. 30936125 2019
Entrez Id: 1843
Gene Symbol: DUSP1
DUSP1
0.010 AlteredExpression disease BEFREE DUSP1 and DUSP6 are expressed in NF1-deleted tumors. 30936125 2019
Entrez Id: 1848
Gene Symbol: DUSP6
DUSP6
0.010 AlteredExpression disease BEFREE DUSP1 and DUSP6 are expressed in NF1-deleted tumors. 30936125 2019
Entrez Id: 6198
Gene Symbol: RPS6KB1
RPS6KB1
0.010 AlteredExpression disease BEFREE The activity of mTORC1 signaling (p-mTORC1, p-S6K1, and p-4EBP1) was significantly upregulated in the NF1-siRNA group and significantly inhibited in the NF1-pcDNA3.0 group, 7 and 14 days after culture. 29266342 2019
Entrez Id: 1730
Gene Symbol: DIAPH2
DIAPH2
0.010 Biomarker disease BEFREE Here, we identified specific TCTP-interacting proteins by sequential affinity purification and data-independent mass spectrometry acquisition (AP-DIA/SWATH) to investigate the role of TCTP in NF1-associated malignant tumors. 30381327 2019
Entrez Id: 8630
Gene Symbol: HSD17B6
HSD17B6
0.010 AlteredExpression disease BEFREE AMPK: AMP-activated protein kinase; DBD: DNA-binding domain; HR-A/B; HR-C: heptad repeats; HSE: heat shock elements; HSF1: heat shock factor; HSPs: heat shock proteins; HSR: heat shock response; MEK: mitogen-activated protein kinase kinase; mTOR: mammalian target of rapamycin; NF1: neurofibromatosis type 1; P-TEFb: positive transcription elongation factor b; RD: regulatory domain; RNAi: RNA interference; TAD: transactivation domain; TRiC: TCP-1 ring complex. 30931649 2019
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.010 GeneticVariation disease BEFREE The SMAD4 and BMPR1A genes that are involved in 50-60% of JPS cases have not been investigated in the ~ 20 published cases of NF1-associated JLIHMPs with the exception of the abovementioned patient with concomitant JPS and NF1. 30276464 2019
Entrez Id: 3627
Gene Symbol: CXCL10
CXCL10
0.010 AlteredExpression disease BEFREE We find that the chemokine Cxcl10 is uniquely upregulated in NF1 mice that invariably develop neurofibroma. 30728335 2019
Entrez Id: 7150
Gene Symbol: TOP1
TOP1
0.010 Biomarker disease BEFREE Mechanisms underlying synergy between DNA topoisomerase I-targeted drugs and mTOR kinase inhibitors in NF1-associated malignant peripheral nerve sheath tumors. 31444410 2019
Entrez Id: 338386
Gene Symbol: HSR
HSR
0.010 AlteredExpression disease BEFREE AMPK: AMP-activated protein kinase; DBD: DNA-binding domain; HR-A/B; HR-C: heptad repeats; HSE: heat shock elements; HSF1: heat shock factor; HSPs: heat shock proteins; HSR: heat shock response; MEK: mitogen-activated protein kinase kinase; mTOR: mammalian target of rapamycin; NF1: neurofibromatosis type 1; P-TEFb: positive transcription elongation factor b; RD: regulatory domain; RNAi: RNA interference; TAD: transactivation domain; TRiC: TCP-1 ring complex. 30931649 2019
Entrez Id: 2004
Gene Symbol: ELK3
ELK3
0.010 Biomarker disease BEFREE The coincidence of GIST and NET is almost pathognomonic for NF1 and should raise a suspicion of this rare disorder in clinical practice. 31301733 2019
Entrez Id: 6950
Gene Symbol: TCP1
TCP1
0.010 AlteredExpression disease BEFREE AMPK: AMP-activated protein kinase; DBD: DNA-binding domain; HR-A/B; HR-C: heptad repeats; HSE: heat shock elements; HSF1: heat shock factor; HSPs: heat shock proteins; HSR: heat shock response; MEK: mitogen-activated protein kinase kinase; mTOR: mammalian target of rapamycin; NF1: neurofibromatosis type 1; P-TEFb: positive transcription elongation factor b; RD: regulatory domain; RNAi: RNA interference; TAD: transactivation domain; TRiC: TCP-1 ring complex. 30931649 2019
Entrez Id: 6530
Gene Symbol: SLC6A2
SLC6A2
0.010 Biomarker disease BEFREE The coincidence of GIST and NET is almost pathognomonic for NF1 and should raise a suspicion of this rare disorder in clinical practice. 31301733 2019
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
0.010 GeneticVariation disease BEFREE The SMAD4 and BMPR1A genes that are involved in 50-60% of JPS cases have not been investigated in the ~ 20 published cases of NF1-associated JLIHMPs with the exception of the abovementioned patient with concomitant JPS and NF1. 30276464 2019