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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:NF1-BRCA1 (FusionGDB2 ID:HG4763TG672)

Fusion Gene Summary for NF1-BRCA1

check button Fusion gene summary
Fusion gene informationFusion gene name: NF1-BRCA1
Fusion gene ID: hg4763tg672
HgeneTgene
Gene symbol

NF1

BRCA1

Gene ID

4763

672

Gene nameneurofibromin 1BRCA1 DNA repair associated
SynonymsNFNS|VRNF|WSSBRCAI|BRCC1|BROVCA1|FANCS|IRIS|PNCA4|PPP1R53|PSCP|RNF53
Cytomap('NF1')('BRCA1')

17q11.2

17q21.31

Type of geneprotein-codingprotein-coding
Descriptionneurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1breast cancer type 1 susceptibility proteinBRCA1/BRCA2-containing complex, subunit 1Fanconi anemia, complementation group SRING finger protein 53breast and ovarian cancer susceptibility protein 1breast cancer 1, early onsetearly onset breast cancer
Modification date2020032220200329
UniProtAcc

P21359

.
Ensembl transtripts involved in fusion geneENST00000581113, ENST00000356175, 
ENST00000358273, ENST00000417592, 
ENST00000431387, ENST00000444181, 
ENST00000581113, ENST00000417592, 
ENST00000431387, ENST00000444181, 
ENST00000356175, ENST00000358273, 
Fusion gene scores* DoF score47 X 26 X 21=256627 X 6 X 6=252
# samples 697
** MAII scorelog2(69/25662*10)=-5.21689344093196
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/252*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NF1 [Title/Abstract] AND BRCA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNF1(29653270)-BRCA1(41215968), # samples:2
Anticipated loss of major functional domain due to fusion event.BRCA1-NF1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
BRCA1-NF1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
BRCA1-NF1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
BRCA1-NF1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
BRCA1-NF1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
BRCA1-NF1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
BRCA1-NF1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
NF1-BRCA1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
NF1-BRCA1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
NF1-BRCA1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
NF1-BRCA1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
NF1-BRCA1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneNF1

GO:0043547

positive regulation of GTPase activity

2121371

TgeneBRCA1

GO:0000724

double-strand break repair via homologous recombination

17349954

TgeneBRCA1

GO:0006301

postreplication repair

17349954

TgeneBRCA1

GO:0006302

double-strand break repair

22186889

TgeneBRCA1

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

14654789

TgeneBRCA1

GO:0016567

protein ubiquitination

17349954

TgeneBRCA1

GO:0031398

positive regulation of protein ubiquitination

15965487

TgeneBRCA1

GO:0035066

positive regulation of histone acetylation

20820192

TgeneBRCA1

GO:0043627

response to estrogen

8895509

TgeneBRCA1

GO:0045892

negative regulation of transcription, DNA-templated

16288014

TgeneBRCA1

GO:0045893

positive regulation of transcription, DNA-templated

20160719

TgeneBRCA1

GO:0045944

positive regulation of transcription by RNA polymerase II

16331276

TgeneBRCA1

GO:0051571

positive regulation of histone H3-K4 methylation

20820192

TgeneBRCA1

GO:0051573

negative regulation of histone H3-K9 methylation

20820192

TgeneBRCA1

GO:0051865

protein autoubiquitination

12890688|20351172

TgeneBRCA1

GO:0070512

positive regulation of histone H4-K20 methylation

20820192

TgeneBRCA1

GO:0071158

positive regulation of cell cycle arrest

21102443

TgeneBRCA1

GO:0071681

cellular response to indole-3-methanol

10868478

TgeneBRCA1

GO:0085020

protein K6-linked ubiquitination

12890688|20351172

TgeneBRCA1

GO:2000617

positive regulation of histone H3-K9 acetylation

20820192

TgeneBRCA1

GO:2000620

positive regulation of histone H4-K16 acetylation

20820192



check button Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PRADTCGA-2A-A8W1-01ANF1chr17

29653270

-BRCA1chr17

41215968

-
ChimerDB4PRADTCGA-2A-A8W1-01ANF1chr17

29653270

+BRCA1chr17

41215968

-


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Fusion Gene ORF analysis for NF1-BRCA1

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-3CDSENST00000581113ENST00000309486NF1chr17

29653270

+BRCA1chr17

41215968

-
3UTR-3CDSENST00000581113ENST00000346315NF1chr17

29653270

+BRCA1chr17

41215968

-
3UTR-3CDSENST00000581113ENST00000351666NF1chr17

29653270

+BRCA1chr17

41215968

-
3UTR-3CDSENST00000581113ENST00000357654NF1chr17

29653270

+BRCA1chr17

41215968

-
3UTR-intronENST00000581113ENST00000352993NF1chr17

29653270

+BRCA1chr17

41215968

-
3UTR-intronENST00000581113ENST00000354071NF1chr17

29653270

+BRCA1chr17

41215968

-
3UTR-intronENST00000581113ENST00000468300NF1chr17

29653270

+BRCA1chr17

41215968

-
3UTR-intronENST00000581113ENST00000471181NF1chr17

29653270

+BRCA1chr17

41215968

-
3UTR-intronENST00000581113ENST00000491747NF1chr17

29653270

+BRCA1chr17

41215968

-
3UTR-intronENST00000581113ENST00000493795NF1chr17

29653270

+BRCA1chr17

41215968

-
3UTR-intronENST00000581113ENST00000586385NF1chr17

29653270

+BRCA1chr17

41215968

-
3UTR-intronENST00000581113ENST00000591534NF1chr17

29653270

+BRCA1chr17

41215968

-
3UTR-intronENST00000581113ENST00000591849NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000356175ENST00000352993NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000356175ENST00000354071NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000356175ENST00000468300NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000356175ENST00000471181NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000356175ENST00000491747NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000356175ENST00000493795NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000356175ENST00000586385NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000356175ENST00000591534NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000356175ENST00000591849NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000358273ENST00000352993NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000358273ENST00000354071NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000358273ENST00000468300NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000358273ENST00000471181NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000358273ENST00000491747NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000358273ENST00000493795NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000358273ENST00000586385NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000358273ENST00000591534NF1chr17

29653270

+BRCA1chr17

41215968

-
5CDS-intronENST00000358273ENST00000591849NF1chr17

29653270

+BRCA1chr17

41215968

-
Frame-shiftENST00000356175ENST00000309486NF1chr17

29653270

+BRCA1chr17

41215968

-
Frame-shiftENST00000356175ENST00000346315NF1chr17

29653270

+BRCA1chr17

41215968

-
Frame-shiftENST00000356175ENST00000351666NF1chr17

29653270

+BRCA1chr17

41215968

-
Frame-shiftENST00000356175ENST00000357654NF1chr17

29653270

+BRCA1chr17

41215968

-
Frame-shiftENST00000358273ENST00000309486NF1chr17

29653270

+BRCA1chr17

41215968

-
Frame-shiftENST00000358273ENST00000346315NF1chr17

29653270

+BRCA1chr17

41215968

-
Frame-shiftENST00000358273ENST00000351666NF1chr17

29653270

+BRCA1chr17

41215968

-
Frame-shiftENST00000358273ENST00000357654NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-3CDSENST00000417592ENST00000309486NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-3CDSENST00000417592ENST00000346315NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-3CDSENST00000417592ENST00000351666NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-3CDSENST00000417592ENST00000357654NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-3CDSENST00000431387ENST00000309486NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-3CDSENST00000431387ENST00000346315NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-3CDSENST00000431387ENST00000351666NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-3CDSENST00000431387ENST00000357654NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-3CDSENST00000444181ENST00000309486NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-3CDSENST00000444181ENST00000346315NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-3CDSENST00000444181ENST00000351666NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-3CDSENST00000444181ENST00000357654NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000417592ENST00000352993NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000417592ENST00000354071NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000417592ENST00000468300NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000417592ENST00000471181NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000417592ENST00000491747NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000417592ENST00000493795NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000417592ENST00000586385NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000417592ENST00000591534NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000417592ENST00000591849NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000431387ENST00000352993NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000431387ENST00000354071NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000431387ENST00000468300NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000431387ENST00000471181NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000431387ENST00000491747NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000431387ENST00000493795NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000431387ENST00000586385NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000431387ENST00000591534NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000431387ENST00000591849NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000444181ENST00000352993NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000444181ENST00000354071NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000444181ENST00000468300NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000444181ENST00000471181NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000444181ENST00000491747NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000444181ENST00000493795NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000444181ENST00000586385NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000444181ENST00000591534NF1chr17

29653270

+BRCA1chr17

41215968

-
intron-intronENST00000444181ENST00000591849NF1chr17

29653270

+BRCA1chr17

41215968

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for NF1-BRCA1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for NF1-BRCA1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:29653270/:41215968)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NF1

P21359

.
FUNCTION: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. {ECO:0000269|PubMed:2121371, ECO:0000269|PubMed:8417346}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for NF1-BRCA1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for NF1-BRCA1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for NF1-BRCA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for NF1-BRCA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNF1C0027831Neurofibromatosis 144CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneNF1C1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome10CLINGEN
HgeneNF1C0349639Juvenile Myelomonocytic Leukemia7CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneNF1C2931482Neurofibromatosis-Noonan syndrome6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneNF1C0553586Cafe-au-lait macules with pulmonary stenosis5CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneNF1C0162678Neurofibromatoses3CGI;CTD_human;GENOMICS_ENGLAND
HgeneNF1C0004114Astrocytoma2CTD_human
HgeneNF1C0023467Leukemia, Myelocytic, Acute2CTD_human
HgeneNF1C0025202melanoma2CGI;CTD_human
HgeneNF1C0026998Acute Myeloid Leukemia, M12CTD_human
HgeneNF1C0205768Subependymal Giant Cell Astrocytoma2CTD_human
HgeneNF1C0206727Nerve Sheath Tumors2CTD_human
HgeneNF1C0280783Juvenile Pilocytic Astrocytoma2CTD_human
HgeneNF1C0280785Diffuse Astrocytoma2CTD_human
HgeneNF1C0334579Anaplastic astrocytoma2CTD_human
HgeneNF1C0334580Protoplasmic astrocytoma2CTD_human
HgeneNF1C0334581Gemistocytic astrocytoma2CTD_human
HgeneNF1C0334582Fibrillary Astrocytoma2CTD_human
HgeneNF1C0334583Pilocytic Astrocytoma2CTD_human
HgeneNF1C0338070Childhood Cerebral Astrocytoma2CTD_human
HgeneNF1C0547065Mixed oligoastrocytoma2CTD_human
HgeneNF1C0750935Cerebral Astrocytoma2CTD_human
HgeneNF1C0750936Intracranial Astrocytoma2CTD_human
HgeneNF1C0751689Peripheral Nerve Sheath Neoplasm2CTD_human
HgeneNF1C0751691Perineurioma2CTD_human
HgeneNF1C1704230Grade I Astrocytoma2CTD_human
HgeneNF1C1834235NEUROFIBROMATOSIS, FAMILIAL SPINAL2CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneNF1C1879321Acute Myeloid Leukemia (AML-M2)2CTD_human
HgeneNF1C0001430Adenoma1CTD_human
HgeneNF1C0004352Autistic Disorder1CTD_human
HgeneNF1C0016057Fibrosarcoma1CTD_human
HgeneNF1C0017636Glioblastoma1CTD_human
HgeneNF1C0017638Glioma1CGI;CTD_human
HgeneNF1C0020796Profound Mental Retardation1CTD_human
HgeneNF1C0023186Learning Disorders1CTD_human
HgeneNF1C0023827liposarcoma1CTD_human
HgeneNF1C0025363Mental Retardation, Psychosocial1CTD_human
HgeneNF1C0026654Moyamoya Disease1GENOMICS_ENGLAND
HgeneNF1C0027809Neurilemmoma1CTD_human
HgeneNF1C0027830neurofibroma1CTD_human
HgeneNF1C0027962Melanocytic nevus1CTD_human
HgeneNF1C0028326Noonan Syndrome1GENOMICS_ENGLAND
HgeneNF1C0031511Pheochromocytoma1CTD_human
HgeneNF1C0035320Retinal Neovascularization1CTD_human
HgeneNF1C0205646Adenoma, Basal Cell1CTD_human
HgeneNF1C0205647Follicular adenoma1CTD_human
HgeneNF1C0205648Adenoma, Microcystic1CTD_human
HgeneNF1C0205649Adenoma, Monomorphic1CTD_human
HgeneNF1C0205650Papillary adenoma1CTD_human
HgeneNF1C0205651Adenoma, Trabecular1CTD_human
HgeneNF1C0205824Liposarcoma, Dedifferentiated1CTD_human
HgeneNF1C0205825Liposarcoma, Pleomorphic1CTD_human
HgeneNF1C0205944Sarcoma, Epithelioid1CTD_human
HgeneNF1C0205945Sarcoma, Spindle Cell1CTD_human
HgeneNF1C0259783mixed gliomas1CTD_human
HgeneNF1C0334588Giant Cell Glioblastoma1CTD_human
HgeneNF1C0555198Malignant Glioma1CTD_human
HgeneNF1C0751262Adult Learning Disorders1CTD_human
HgeneNF1C0751263Learning Disturbance1CTD_human
HgeneNF1C0751265Learning Disabilities1CTD_human
HgeneNF1C0751374Schwannomatosis, Plexiform1CTD_human
HgeneNF1C0917816Mental deficiency1CTD_human
HgeneNF1C0917817Neurofibromatosis 31CTD_human
HgeneNF1C1257877Pheochromocytoma, Extra-Adrenal1CTD_human
HgeneNF1C1261473Sarcoma1CTD_human
HgeneNF1C1330966Developmental Academic Disorder1CTD_human
HgeneNF1C1370889Liposarcoma, well differentiated1CTD_human
HgeneNF1C1621958Glioblastoma Multiforme1CTD_human
HgeneNF1C3150928NF1 Microdeletion Syndrome1ORPHANET
HgeneNF1C3714756Intellectual Disability1CTD_human
TgeneC0006142Malignant neoplasm of breast34CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC2676676BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 116CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0678222Breast Carcinoma12CGI;CTD_human
TgeneC1257931Mammary Neoplasms, Human12CTD_human
TgeneC1458155Mammary Neoplasms12CTD_human
TgeneC4704874Mammary Carcinoma, Human12CTD_human
TgeneC2676677BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 110CLINGEN
TgeneC2676678OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 110CLINGEN
TgeneC1140680Malignant neoplasm of ovary9CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC4554406FANCONI ANEMIA, COMPLEMENTATION GROUP S7CLINGEN;GENOMICS_ENGLAND;UNIPROT
TgeneC0011570Mental Depression5PSYGENET
TgeneC0011581Depressive disorder5PSYGENET
TgeneC0677776Hereditary Breast and Ovarian Cancer Syndrome5CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0919267ovarian neoplasm5CGI;CTD_human
TgeneC0015625Fanconi Anemia4GENOMICS_ENGLAND;ORPHANET
TgeneC0346153Breast Cancer, Familial3ORPHANET
TgeneC0024668Mammary Neoplasms, Experimental2CTD_human
TgeneC2931456Prostate cancer, familial2ORPHANET
TgeneC3280442PANCREATIC CANCER, SUSCEPTIBILITY TO, 42GENOMICS_ENGLAND
TgeneC0006826Malignant Neoplasms1CGI;CTD_human
TgeneC0007097Carcinoma1CTD_human
TgeneC0007621Neoplastic Cell Transformation1CTD_human
TgeneC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneC0023465Acute monocytic leukemia1GENOMICS_ENGLAND
TgeneC0023467Leukemia, Myelocytic, Acute1GENOMICS_ENGLAND
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0026636Mouth Diseases1CTD_human
TgeneC0027651Neoplasms1CTD_human
TgeneC0030297Pancreatic Neoplasm1CGI;CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0086692Benign Neoplasm1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0265219Miller Dieker syndrome1GENOMICS_ENGLAND
TgeneC0333704Chromosome Breaks1CTD_human
TgeneC0346647Malignant neoplasm of pancreas1CGI;CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0376628Chromosome Breakage1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1514428Primary peritoneal carcinoma1ORPHANET
TgeneC2931038Pancreatic carcinoma, familial1ORPHANET
TgeneC3463824MYELODYSPLASTIC SYNDROME1GENOMICS_ENGLAND
TgeneC4225275MENTAL RETARDATION, AUTOSOMAL DOMINANT 401GENOMICS_ENGLAND
TgeneC4749652Hereditary site-specific ovarian cancer syndrome1ORPHANET