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Center for Computational Systems Medicine
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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:FGFR2-FGFR2 (FusionGDB2 ID:HG2263TG2263)

Fusion Gene Summary for FGFR2-FGFR2

check button Fusion gene summary
Fusion gene informationFusion gene name: FGFR2-FGFR2
Fusion gene ID: hg2263tg2263
HgeneTgene
Gene symbol

FGFR2

FGFR2

Gene ID

2263

2263

Gene namefibroblast growth factor receptor 2fibroblast growth factor receptor 2
SynonymsBBDS|BEK|BFR-1|CD332|CEK3|CFD1|ECT1|JWS|K-SAM|KGFR|TK14|TK25BBDS|BEK|BFR-1|CD332|CEK3|CFD1|ECT1|JWS|K-SAM|KGFR|TK14|TK25
Cytomap('FGFR2')('FGFR2')

10q26.13

10q26.13

Type of geneprotein-codingprotein-coding
Descriptionfibroblast growth factor receptor 2BEK fibroblast growth factor receptorbacteria-expressed kinasekeratinocyte growth factor receptorprotein tyrosine kinase, receptor like 14fibroblast growth factor receptor 2BEK fibroblast growth factor receptorbacteria-expressed kinasekeratinocyte growth factor receptorprotein tyrosine kinase, receptor like 14
Modification date2020032220200322
UniProtAcc

P21802

P21802

Ensembl transtripts involved in fusion geneENST00000346997, ENST00000351936, 
ENST00000356226, ENST00000357555, 
ENST00000358487, ENST00000360144, 
ENST00000369056, ENST00000369059, 
ENST00000369060, ENST00000369061, 
ENST00000457416, ENST00000478859, 
ENST00000359354, ENST00000490349, 
ENST00000346997, ENST00000351936, 
ENST00000356226, ENST00000357555, 
ENST00000358487, ENST00000359354, 
ENST00000360144, ENST00000369056, 
ENST00000369059, ENST00000369060, 
ENST00000369061, ENST00000457416, 
ENST00000478859, ENST00000490349, 
Fusion gene scores* DoF score24 X 20 X 12=576011 X 11 X 8=968
# samples 3816
** MAII scorelog2(38/5760*10)=-3.92199748799873
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/968*10)=-2.59693514238723
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FGFR2 [Title/Abstract] AND FGFR2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFGFR2(123243211)-FGFR2(123259078), # samples:1
FGFR2(123263358)-FGFR2(123256081), # samples:1
FGFR2(123239149)-FGFR2(123239471), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneFGFR2

GO:0008284

positive regulation of cell proliferation

8663044

HgeneFGFR2

GO:0008543

fibroblast growth factor receptor signaling pathway

8663044|15629145

HgeneFGFR2

GO:0018108

peptidyl-tyrosine phosphorylation

15629145|16844695

HgeneFGFR2

GO:0046777

protein autophosphorylation

15629145

TgeneFGFR2

GO:0008284

positive regulation of cell proliferation

8663044

TgeneFGFR2

GO:0008543

fibroblast growth factor receptor signaling pathway

8663044|15629145

TgeneFGFR2

GO:0018108

peptidyl-tyrosine phosphorylation

15629145|16844695

TgeneFGFR2

GO:0046777

protein autophosphorylation

15629145



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


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Fusion Gene ORF analysis for FGFR2-FGFR2

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

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 FGFR2-FGFR2


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 FGFR2-FGFR2


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/:123243211/:123259078)
- 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
FGFR2

P21802

FGFR2

P21802

FUNCTION: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation. Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1. {ECO:0000269|PubMed:12529371, ECO:0000269|PubMed:15190072, ECO:0000269|PubMed:15629145, ECO:0000269|PubMed:16384934, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:17311277, ECO:0000269|PubMed:17623664, ECO:0000269|PubMed:18374639, ECO:0000269|PubMed:19103595, ECO:0000269|PubMed:19387476, ECO:0000269|PubMed:19410646, ECO:0000269|PubMed:21596750, ECO:0000269|PubMed:8663044}.FUNCTION: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation. Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1. {ECO:0000269|PubMed:12529371, ECO:0000269|PubMed:15190072, ECO:0000269|PubMed:15629145, ECO:0000269|PubMed:16384934, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:17311277, ECO:0000269|PubMed:17623664, ECO:0000269|PubMed:18374639, ECO:0000269|PubMed:19103595, ECO:0000269|PubMed:19387476, ECO:0000269|PubMed:19410646, ECO:0000269|PubMed:21596750, ECO:0000269|PubMed:8663044}.

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 FGFR2-FGFR2


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 FGFR2-FGFR2


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 FGFR2-FGFR2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneFGFR2P21802DB00039PaliferminAgonist|BinderBiotechApproved
HgeneFGFR2P21802DB00039PaliferminAgonist|BinderBiotechApproved
HgeneFGFR2P21802DB00039PaliferminAgonist|BinderBiotechApproved
HgeneFGFR2P21802DB00039PaliferminAgonist|BinderBiotechApproved
HgeneFGFR2P21802DB08896RegorafenibInhibitorSmall moleculeApproved
HgeneFGFR2P21802DB08896RegorafenibInhibitorSmall moleculeApproved
HgeneFGFR2P21802DB08896RegorafenibInhibitorSmall moleculeApproved
HgeneFGFR2P21802DB08896RegorafenibInhibitorSmall moleculeApproved
HgeneFGFR2P21802DB09079NintedanibInhibitorSmall moleculeApproved
HgeneFGFR2P21802DB09079NintedanibInhibitorSmall moleculeApproved
HgeneFGFR2P21802DB09079NintedanibInhibitorSmall moleculeApproved
HgeneFGFR2P21802DB09079NintedanibInhibitorSmall moleculeApproved
HgeneFGFR2P21802DB10770Foreskin fibroblast (neonatal)AgonistBiotechApproved
HgeneFGFR2P21802DB10770Foreskin fibroblast (neonatal)AgonistBiotechApproved
HgeneFGFR2P21802DB10770Foreskin fibroblast (neonatal)AgonistBiotechApproved
HgeneFGFR2P21802DB10770Foreskin fibroblast (neonatal)AgonistBiotechApproved
HgeneFGFR2P21802DB10772Foreskin keratinocyte (neonatal)AgonistBiotechApproved
HgeneFGFR2P21802DB10772Foreskin keratinocyte (neonatal)AgonistBiotechApproved
HgeneFGFR2P21802DB10772Foreskin keratinocyte (neonatal)AgonistBiotechApproved
HgeneFGFR2P21802DB10772Foreskin keratinocyte (neonatal)AgonistBiotechApproved
HgeneFGFR2P21802DB01109HeparinSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB01109HeparinSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB01109HeparinSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB01109HeparinSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR2P21802DB01041ThalidomideAntagonistSmall moleculeApproved|Investigational|Withdrawn
HgeneFGFR2P21802DB01041ThalidomideAntagonistSmall moleculeApproved|Investigational|Withdrawn
HgeneFGFR2P21802DB01041ThalidomideAntagonistSmall moleculeApproved|Investigational|Withdrawn
HgeneFGFR2P21802DB01041ThalidomideAntagonistSmall moleculeApproved|Investigational|Withdrawn
TgeneFGFR2P21802DB00039PaliferminAgonist|BinderBiotechApproved
TgeneFGFR2P21802DB00039PaliferminAgonist|BinderBiotechApproved
TgeneFGFR2P21802DB00039PaliferminAgonist|BinderBiotechApproved
TgeneFGFR2P21802DB00039PaliferminAgonist|BinderBiotechApproved
TgeneFGFR2P21802DB08896RegorafenibInhibitorSmall moleculeApproved
TgeneFGFR2P21802DB08896RegorafenibInhibitorSmall moleculeApproved
TgeneFGFR2P21802DB08896RegorafenibInhibitorSmall moleculeApproved
TgeneFGFR2P21802DB08896RegorafenibInhibitorSmall moleculeApproved
TgeneFGFR2P21802DB09079NintedanibInhibitorSmall moleculeApproved
TgeneFGFR2P21802DB09079NintedanibInhibitorSmall moleculeApproved
TgeneFGFR2P21802DB09079NintedanibInhibitorSmall moleculeApproved
TgeneFGFR2P21802DB09079NintedanibInhibitorSmall moleculeApproved
TgeneFGFR2P21802DB10770Foreskin fibroblast (neonatal)AgonistBiotechApproved
TgeneFGFR2P21802DB10770Foreskin fibroblast (neonatal)AgonistBiotechApproved
TgeneFGFR2P21802DB10770Foreskin fibroblast (neonatal)AgonistBiotechApproved
TgeneFGFR2P21802DB10770Foreskin fibroblast (neonatal)AgonistBiotechApproved
TgeneFGFR2P21802DB10772Foreskin keratinocyte (neonatal)AgonistBiotechApproved
TgeneFGFR2P21802DB10772Foreskin keratinocyte (neonatal)AgonistBiotechApproved
TgeneFGFR2P21802DB10772Foreskin keratinocyte (neonatal)AgonistBiotechApproved
TgeneFGFR2P21802DB10772Foreskin keratinocyte (neonatal)AgonistBiotechApproved
TgeneFGFR2P21802DB01109HeparinSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB01109HeparinSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB01109HeparinSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB01109HeparinSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR2P21802DB01041ThalidomideAntagonistSmall moleculeApproved|Investigational|Withdrawn
TgeneFGFR2P21802DB01041ThalidomideAntagonistSmall moleculeApproved|Investigational|Withdrawn
TgeneFGFR2P21802DB01041ThalidomideAntagonistSmall moleculeApproved|Investigational|Withdrawn
TgeneFGFR2P21802DB01041ThalidomideAntagonistSmall moleculeApproved|Investigational|Withdrawn

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Related Diseases for FGFR2-FGFR2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFGFR2C2931196Craniofacial dysostosis type 123CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGFR2C0220658Pfeiffer Syndrome21CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGFR2C0001193Apert syndrome19CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C0795998JACKSON-WEISS SYNDROME10CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C0175699Saethre-Chotzen Syndrome8CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneFGFR2C1852406Cutis Gyrata Syndrome of Beare And Stevenson8CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C2936791Antley-Bixler Syndrome, Autosomal Dominant7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C1510455Acrocephalosyndactylia6CTD_human;ORPHANET
HgeneFGFR2C0265269Lacrimoauriculodentodigital syndrome5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C0010278Craniosynostosis4CTD_human;GENOMICS_ENGLAND
HgeneFGFR2C1863389Apert-Crouzon Disease4CTD_human
HgeneFGFR2C1865070SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C0006142Malignant neoplasm of breast3CTD_human;UNIPROT
HgeneFGFR2C0030044Acrocephaly3CTD_human
HgeneFGFR2C0036341Schizophrenia3PSYGENET
HgeneFGFR2C0221356Brachycephaly3CTD_human
HgeneFGFR2C0265534Scaphycephaly3CTD_human
HgeneFGFR2C0265535Trigonocephaly3CTD_human
HgeneFGFR2C0376634Craniofacial Abnormalities3CTD_human
HgeneFGFR2C0678222Breast Carcinoma3CTD_human
HgeneFGFR2C1257931Mammary Neoplasms, Human3CTD_human
HgeneFGFR2C1458155Mammary Neoplasms3CTD_human
HgeneFGFR2C1833340Synostotic Posterior Plagiocephaly3CTD_human
HgeneFGFR2C1860819Metopic synostosis3CTD_human
HgeneFGFR2C2931150Synostotic Anterior Plagiocephaly3CTD_human
HgeneFGFR2C3281247BENT BONE DYSPLASIA SYNDROME3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C4551902Craniosynostosis, Type 13CTD_human
HgeneFGFR2C4704874Mammary Carcinoma, Human3CTD_human
HgeneFGFR2C0008925Cleft Palate2CTD_human
HgeneFGFR2C0011570Mental Depression2PSYGENET
HgeneFGFR2C0011581Depressive disorder2PSYGENET
HgeneFGFR2C0024623Malignant neoplasm of stomach2CGI;CTD_human
HgeneFGFR2C0038356Stomach Neoplasms2CGI;CTD_human
HgeneFGFR2C1708349Hereditary Diffuse Gastric Cancer2CTD_human
HgeneFGFR2C1837218Cleft palate, isolated2CTD_human
HgeneFGFR2C0000772Multiple congenital anomalies1CTD_human
HgeneFGFR2C0003090Ankylosis1CTD_human
HgeneFGFR2C0005586Bipolar Disorder1PSYGENET
HgeneFGFR2C0008924Cleft upper lip1CTD_human
HgeneFGFR2C0010273Craniofacial Dysostosis1CTD_human
HgeneFGFR2C0011757Developmental Coordination Disorder1CTD_human
HgeneFGFR2C0014170Endometrial Neoplasms1CTD_human
HgeneFGFR2C0018553Hamartoma Syndrome, Multiple1CTD_human
HgeneFGFR2C0020796Profound Mental Retardation1CTD_human
HgeneFGFR2C0023890Liver Cirrhosis1CTD_human
HgeneFGFR2C0024121Lung Neoplasms1CTD_human
HgeneFGFR2C0025363Mental Retardation, Psychosocial1CTD_human
HgeneFGFR2C0026613Motor Skills Disorders1CTD_human
HgeneFGFR2C0033975Psychotic Disorders1PSYGENET
HgeneFGFR2C0037268Skin Abnormalities1CTD_human
HgeneFGFR2C0037274Dermatologic disorders1CTD_human
HgeneFGFR2C0038219Status Dysraphicus1CTD_human
HgeneFGFR2C0040427Tooth Abnormalities1CTD_human
HgeneFGFR2C0080178Spina Bifida1CTD_human
HgeneFGFR2C0152423Congenital small ears1GENOMICS_ENGLAND
HgeneFGFR2C0206698Cholangiocarcinoma1CTD_human
HgeneFGFR2C0206762Limb Deformities, Congenital1CTD_human
HgeneFGFR2C0239946Fibrosis, Liver1CTD_human
HgeneFGFR2C0242379Malignant neoplasm of lung1CTD_human
HgeneFGFR2C0265326Bannayan-Riley-Ruvalcaba Syndrome1CTD_human
HgeneFGFR2C0266508Rachischisis1CTD_human
HgeneFGFR2C0345905Intrahepatic Cholangiocarcinoma1CTD_human
HgeneFGFR2C0349204Nonorganic psychosis1PSYGENET
HgeneFGFR2C0391826Lhermitte-Duclos disease1CTD_human
HgeneFGFR2C0476089Endometrial Carcinoma1CGI;CTD_human
HgeneFGFR2C0524730Odontome1CTD_human
HgeneFGFR2C0699791Stomach Carcinoma1CGI;GENOMICS_ENGLAND
HgeneFGFR2C0917816Mental deficiency1CTD_human
HgeneFGFR2C1450010Plagiocephaly, Nonsynostotic1CTD_human
HgeneFGFR2C1860042Antley-Bixler Syndrome with Disordered Steroidogenesis1CTD_human
HgeneFGFR2C1867564SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY1GENOMICS_ENGLAND
HgeneFGFR2C1959582PTEN Hamartoma Tumor Syndrome1CTD_human
HgeneFGFR2C2350233Antley-Bixler Syndrome Phenotype1CTD_human
HgeneFGFR2C3267076Familial scaphocephaly syndrome1GENOMICS_ENGLAND
HgeneFGFR2C3714756Intellectual Disability1CTD_human
HgeneFGFR2C3805278Extrahepatic Cholangiocarcinoma1CTD_human
TgeneC2931196Craniofacial dysostosis type 123CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0220658Pfeiffer Syndrome21CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0001193Apert syndrome19CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0795998JACKSON-WEISS SYNDROME10CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0175699Saethre-Chotzen Syndrome8CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC1852406Cutis Gyrata Syndrome of Beare And Stevenson8CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC2936791Antley-Bixler Syndrome, Autosomal Dominant7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1510455Acrocephalosyndactylia6CTD_human;ORPHANET
TgeneC0265269Lacrimoauriculodentodigital syndrome5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0010278Craniosynostosis4CTD_human;GENOMICS_ENGLAND
TgeneC1863389Apert-Crouzon Disease4CTD_human
TgeneC1865070SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0006142Malignant neoplasm of breast3CTD_human;UNIPROT
TgeneC0030044Acrocephaly3CTD_human
TgeneC0036341Schizophrenia3PSYGENET
TgeneC0221356Brachycephaly3CTD_human
TgeneC0265534Scaphycephaly3CTD_human
TgeneC0265535Trigonocephaly3CTD_human
TgeneC0376634Craniofacial Abnormalities3CTD_human
TgeneC0678222Breast Carcinoma3CTD_human
TgeneC1257931Mammary Neoplasms, Human3CTD_human
TgeneC1458155Mammary Neoplasms3CTD_human
TgeneC1833340Synostotic Posterior Plagiocephaly3CTD_human
TgeneC1860819Metopic synostosis3CTD_human
TgeneC2931150Synostotic Anterior Plagiocephaly3CTD_human
TgeneC3281247BENT BONE DYSPLASIA SYNDROME3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC4551902Craniosynostosis, Type 13CTD_human
TgeneC4704874Mammary Carcinoma, Human3CTD_human
TgeneC0008925Cleft Palate2CTD_human
TgeneC0011570Mental Depression2PSYGENET
TgeneC0011581Depressive disorder2PSYGENET
TgeneC0024623Malignant neoplasm of stomach2CGI;CTD_human
TgeneC0038356Stomach Neoplasms2CGI;CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer2CTD_human
TgeneC1837218Cleft palate, isolated2CTD_human
TgeneC0000772Multiple congenital anomalies1CTD_human
TgeneC0003090Ankylosis1CTD_human
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0008924Cleft upper lip1CTD_human
TgeneC0010273Craniofacial Dysostosis1CTD_human
TgeneC0011757Developmental Coordination Disorder1CTD_human
TgeneC0014170Endometrial Neoplasms1CTD_human
TgeneC0018553Hamartoma Syndrome, Multiple1CTD_human
TgeneC0020796Profound Mental Retardation1CTD_human
TgeneC0023890Liver Cirrhosis1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0025363Mental Retardation, Psychosocial1CTD_human
TgeneC0026613Motor Skills Disorders1CTD_human
TgeneC0033975Psychotic Disorders1PSYGENET
TgeneC0037268Skin Abnormalities1CTD_human
TgeneC0037274Dermatologic disorders1CTD_human
TgeneC0038219Status Dysraphicus1CTD_human
TgeneC0040427Tooth Abnormalities1CTD_human
TgeneC0080178Spina Bifida1CTD_human
TgeneC0152423Congenital small ears1GENOMICS_ENGLAND
TgeneC0206698Cholangiocarcinoma1CTD_human
TgeneC0206762Limb Deformities, Congenital1CTD_human
TgeneC0239946Fibrosis, Liver1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0265326Bannayan-Riley-Ruvalcaba Syndrome1CTD_human
TgeneC0266508Rachischisis1CTD_human
TgeneC0345905Intrahepatic Cholangiocarcinoma1CTD_human
TgeneC0349204Nonorganic psychosis1PSYGENET
TgeneC0391826Lhermitte-Duclos disease1CTD_human
TgeneC0476089Endometrial Carcinoma1CGI;CTD_human
TgeneC0524730Odontome1CTD_human
TgeneC0699791Stomach Carcinoma1CGI;GENOMICS_ENGLAND
TgeneC0917816Mental deficiency1CTD_human
TgeneC1450010Plagiocephaly, Nonsynostotic1CTD_human
TgeneC1860042Antley-Bixler Syndrome with Disordered Steroidogenesis1CTD_human
TgeneC1867564SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY1GENOMICS_ENGLAND
TgeneC1959582PTEN Hamartoma Tumor Syndrome1CTD_human
TgeneC2350233Antley-Bixler Syndrome Phenotype1CTD_human
TgeneC3267076Familial scaphocephaly syndrome1GENOMICS_ENGLAND
TgeneC3714756Intellectual Disability1CTD_human
TgeneC3805278Extrahepatic Cholangiocarcinoma1CTD_human