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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 34940

FusionGeneSummary for SMN1_FGFR2

check button Fusion gene summary
Fusion gene informationFusion gene name: SMN1_FGFR2
Fusion gene ID: 34940
HgeneTgene
Gene symbol

SMN1

FGFR2

Gene ID

6606

2263

Gene namesurvival of motor neuron 1, telomericfibroblast growth factor receptor 2
SynonymsBCD541|GEMIN1|SMA|SMA1|SMA2|SMA3|SMA4|SMA@|SMN|SMNT|T-BCD541|TDRD16ABBDS|BEK|BFR-1|CD332|CEK3|CFD1|ECT1|JWS|K-SAM|KGFR|TK14|TK25
Cytomap

5q13.2

10q26.13

Type of geneprotein-codingprotein-coding
Descriptionsurvival motor neuron proteincomponent of gems 1gemin-1survival motor neuron 1 proteintudor domain containing 16Afibroblast growth factor receptor 2BEK fibroblast growth factor receptorbacteria-expressed kinasekeratinocyte growth factor receptorprotein tyrosine kinase, receptor like 14
Modification date2018052720180527
UniProtAcc

Q16637

P21802

Ensembl transtripts involved in fusion geneENST00000351205, ENST00000503079, 
ENST00000380707, ENST00000514951, 
ENST00000506163, ENST00000510679, 
ENST00000369061, ENST00000357555, 
ENST00000358487, ENST00000356226, 
ENST00000369060, ENST00000369059, 
ENST00000346997, ENST00000457416, 
ENST00000351936, ENST00000360144, 
ENST00000369056, ENST00000490349, 
ENST00000359354, ENST00000478859, 
Fusion gene scores* DoF score1 X 1 X 1=17 X 6 X 7=294
# samples 111
** MAII scorelog2(1/1*10)=3.32192809488736log2(11/294*10)=-1.4183126313117
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMN1 [Title/Abstract] AND FGFR2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
Kinase involved fusion gene, inframe and retained kinase domain.
* 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
HgeneSMN1

GO:0000387

spliceosomal snRNP assembly

18984161

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 from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDLIHCTCGA-DD-AA3A-01ASMN1chr5

70221011

+FGFR2chr10

123239627

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
5CDS-intronENST00000351205ENST00000369061SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000351205ENST00000357555SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000351205ENST00000358487SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000351205ENST00000356226SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000351205ENST00000369060SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000351205ENST00000369059SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000351205ENST00000346997SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000351205ENST00000457416SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000351205ENST00000351936SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000351205ENST00000360144SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000351205ENST00000369056SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000351205ENST00000490349SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000351205ENST00000359354SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000351205ENST00000478859SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000503079ENST00000369061SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000503079ENST00000357555SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000503079ENST00000358487SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000503079ENST00000356226SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000503079ENST00000369060SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000503079ENST00000369059SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000503079ENST00000346997SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000503079ENST00000457416SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000503079ENST00000351936SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000503079ENST00000360144SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000503079ENST00000369056SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000503079ENST00000490349SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000503079ENST00000359354SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000503079ENST00000478859SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000380707ENST00000369061SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000380707ENST00000357555SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000380707ENST00000358487SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000380707ENST00000356226SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000380707ENST00000369060SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000380707ENST00000369059SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000380707ENST00000346997SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000380707ENST00000457416SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000380707ENST00000351936SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000380707ENST00000360144SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000380707ENST00000369056SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000380707ENST00000490349SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000380707ENST00000359354SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000380707ENST00000478859SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000514951ENST00000369061SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000514951ENST00000357555SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000514951ENST00000358487SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000514951ENST00000356226SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000514951ENST00000369060SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000514951ENST00000369059SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000514951ENST00000346997SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000514951ENST00000457416SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000514951ENST00000351936SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000514951ENST00000360144SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000514951ENST00000369056SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000514951ENST00000490349SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000514951ENST00000359354SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000514951ENST00000478859SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000506163ENST00000369061SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000506163ENST00000357555SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000506163ENST00000358487SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000506163ENST00000356226SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000506163ENST00000369060SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000506163ENST00000369059SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000506163ENST00000346997SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000506163ENST00000457416SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000506163ENST00000351936SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000506163ENST00000360144SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000506163ENST00000369056SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000506163ENST00000490349SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000506163ENST00000359354SMN1chr5

70221011

+FGFR2chr10

123239627

-
5CDS-intronENST00000506163ENST00000478859SMN1chr5

70221011

+FGFR2chr10

123239627

-
intron-intronENST00000510679ENST00000369061SMN1chr5

70221011

+FGFR2chr10

123239627

-
intron-intronENST00000510679ENST00000357555SMN1chr5

70221011

+FGFR2chr10

123239627

-
intron-intronENST00000510679ENST00000358487SMN1chr5

70221011

+FGFR2chr10

123239627

-
intron-intronENST00000510679ENST00000356226SMN1chr5

70221011

+FGFR2chr10

123239627

-
intron-intronENST00000510679ENST00000369060SMN1chr5

70221011

+FGFR2chr10

123239627

-
intron-intronENST00000510679ENST00000369059SMN1chr5

70221011

+FGFR2chr10

123239627

-
intron-intronENST00000510679ENST00000346997SMN1chr5

70221011

+FGFR2chr10

123239627

-
intron-intronENST00000510679ENST00000457416SMN1chr5

70221011

+FGFR2chr10

123239627

-
intron-intronENST00000510679ENST00000351936SMN1chr5

70221011

+FGFR2chr10

123239627

-
intron-intronENST00000510679ENST00000360144SMN1chr5

70221011

+FGFR2chr10

123239627

-
intron-intronENST00000510679ENST00000369056SMN1chr5

70221011

+FGFR2chr10

123239627

-
intron-intronENST00000510679ENST00000490349SMN1chr5

70221011

+FGFR2chr10

123239627

-
intron-intronENST00000510679ENST00000359354SMN1chr5

70221011

+FGFR2chr10

123239627

-
intron-intronENST00000510679ENST00000478859SMN1chr5

70221011

+FGFR2chr10

123239627

-

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FusionProtFeatures for SMN1_FGFR2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMN1

Q16637

FGFR2

P21802

The SMN complex plays a catalyst role in the assembly ofsmall nuclear ribonucleoproteins (snRNPs), the building blocks ofthe spliceosome. Thereby, plays an important role in the splicingof cellular pre-mRNAs. Most spliceosomal snRNPs contain a commonset of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF andSNRPG that assemble in a heptameric protein ring on the Sm site ofthe small nuclear RNA to form the core snRNP. In the cytosol, theSm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped inan inactive 6S pICln-Sm complex by the chaperone CLNS1A thatcontrols the assembly of the core snRNP. Dissociation by the SMNcomplex of CLNS1A from the trapped Sm proteins and their transferto an SMN-Sm complex triggers the assembly of core snRNPs andtheir transport to the nucleus. Ensures the correct splicing ofU12 intron-containing genes that may be important for normal motorand proprioceptive neurons development. Also required forresolving RNA-DNA hybrids created by RNA polymerase II, that formR-loop in transcription terminal regions, an important step inproper transcription termination. May also play a role in themetabolism of small nucleolar ribonucleoprotein (snoRNPs).{ECO:0000269|PubMed:18984161, ECO:0000269|PubMed:23063131,ECO:0000269|PubMed:26700805, ECO:0000269|PubMed:9845364}.

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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FusionGeneSequence for SMN1_FGFR2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for SMN1_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
SMN1BCL2, LENG8, WDYHV1, SMN1, GEMIN2, DDX20, GEMIN4, PPP4C, COPS6, GDF9, BAG6, UNC119, LRIF1, GEMIN5, GAR1, FBL, LGALS1, FUBP1, SNRPD2, SNRPD1, SMN2, HNRNPR, GEMIN7, SNRPE, GEMIN6, COIL, SNUPN, KPNB1, SNRPB, SNRPD3, LSM2, LSM4, LSM6, LSM7, DHX9, TP53, SLX1B, GIGYF2, TCERG1, LSM11, LSM10, SIN3A, SIN3B, HDAC2, MAP3K5, HIST3H3, MYBBP1A, STRAP, GEMIN8, SNRNP70, SNRPA1, SNRPF, SNRPG, NOP56, DDX5, DDX17, NOP58, EWSR1, NPM1, HNRNPH1, HNRNPA2B1, THRAP3, SFPQ, NONO, ERH, HNRNPH3, SRSF3, HIST2H2AC, HNRNPA1, HIST1H4A, P4HA1, RPL6, ACTB, TMPO, RPL10, RPL7, RPL13, UCHL1, RBBP6, IMMT, COL4A2, ATP6V1A, KIF5A, HMGXB3, RXRA, CSAD, PSME1, CPNE6, EXT2, SDF4, FLAD1, HADHB, WIZ, SEMA5B, MAST2, RBM48, PLXNA3, MRPL37, SMC5, GAPDH, TUBA1A, ZBTB16, ZXDC, MKI67, SUMO3, TMSB4X, EIF3G, JADE1, CARHSP1, DDAH2, ADAMTS10, WDR73, C19orf60, TRMT2A, TLE1, RPS2, USP4, TAF1C, A2M, CENPB, SP110, MED31, COL4A5, A1BG, ATP5B, DYNC1I1, CCDC90B, EEF1A1, IGHM, EZH2, INPP5K, APLP1, KLHL5, FAM20C, MSH2, DUS2, NKIRAS2, TUBB3, ZNF431, PDE4DIP, ACTL6B, MPP1, CRIP2, WDR18, PKM, AGAP1, NGFR, NMT2, SULT1A3, ARFGAP1, DOCK7, QARS, KMT2B, FGB, RBBP4, DMPK, SETDB1, CUL3, COPA, HSPB1, RBM25, SRSF5, RNU1-1, RNU2-1, SRP9, SRP54, SRP68, SRP19, MDC1, HNRNPUL1, RBFOX2, IQCB1, NOS2, UBL4A, PAN2, MIB1, HDAC11, DICER1, RN7SL1, KDM1A, RNF2, BMI1, WHSC1, VPS28, PPIG, XPO1, SNW1, CDC5L, POLR2A, PRMT5, XRN2, SETX, ITCH, TRAF6, IKBKB, CHUK, IKBKG, ZNF746, PTPN9, DLD, PDHA1, PRPF31, NUFIP1FGFR2FGF1, FGFR2, FGF7, FGF10, PIK3R1, ITGA5, STAT3, PGR, STAT5A, STAT5B, NEDD4, FRS2, CBL, LYN, FYN, HGS, APP, PPM1A, TSPAN3, C8orf74, BEX1, BEX2, ERRFI1, GLCE, HOXC6, MTA3, PDLIM2, RASL10B, RHOBTB2, S100A14, TFF1, FGF5, FGF23, FGF8, PLCG1, FGF2, FGF3, FGF6, FGF9, FGF17, PVRL1, BRAF, MAP3K1, PTPN6, PTPN11, PTPN12, PTPRR, FGFR3, FGFR1, SNX24, GAPVD1, SNX22, UBE4A, IP6K1, RPS6KA3, IFFO2, TMEM30B, DNAJC30, XPR1, GOLGA3, KIDINS220, BCL11A, CEP295, CD44, RPS6KA2, LRRIQ1, RPS6KA1, LITAF, MRAP2, SDC2, FCGRT, SIGLECL1, RAET1E, FAM171B, CHERP, U2SURP, SLC9A6, TIMP1, CCDC120, CD83, PKP4, UBXN4, CTDSP1, CTDSPL, DUSP14, MTMR3


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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RelatedDrugs for SMN1_FGFR2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneFGFR2P21802DB00039PaliferminFibroblast growth factor receptor 2biotechapproved
TgeneFGFR2P21802DB08896RegorafenibFibroblast growth factor receptor 2small moleculeapproved
TgeneFGFR2P21802DB09079NintedanibFibroblast growth factor receptor 2small moleculeapproved
TgeneFGFR2P21802DB01109HeparinFibroblast growth factor receptor 2small moleculeapproved|investigational
TgeneFGFR2P21802DB08901PonatinibFibroblast growth factor receptor 2small moleculeapproved|investigational
TgeneFGFR2P21802DB09078LenvatinibFibroblast growth factor receptor 2small moleculeapproved|investigational
TgeneFGFR2P21802DB01041ThalidomideFibroblast growth factor receptor 2small moleculeapproved|investigational|withdrawn

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RelatedDiseases for SMN1_FGFR2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMN1C0043116HMN (Hereditary Motor Neuropathy) Proximal Type I6ORPHANET;UNIPROT
HgeneSMN1C0152109Juvenile Spinal Muscular Atrophy6ORPHANET;UNIPROT
HgeneSMN1C0393538Muscular Atrophy, Spinal, Type II5ORPHANET;UNIPROT
HgeneSMN1C0026847Spinal Muscular Atrophy4CTD_human;HPO
HgeneSMN1C0700595Spinal Muscular Atrophies of Childhood1CTD_human
TgeneFGFR2C2931196Craniofacial dysostosis type 121ORPHANET;UNIPROT
TgeneFGFR2C0220658Pfeiffer Syndrome10UNIPROT
TgeneFGFR2C0001193Apert syndrome8ORPHANET;UNIPROT
TgeneFGFR2C1510455Acrocephalosyndactylia4CTD_human
TgeneFGFR2C0010278Craniosynostosis3CTD_human;HPO
TgeneFGFR2C0036341Schizophrenia3PSYGENET
TgeneFGFR2C0376634Craniofacial Abnormalities3CTD_human
TgeneFGFR2C1458155Mammary Neoplasms3CTD_human
TgeneFGFR2C0011570Mental Depression2PSYGENET
TgeneFGFR2C0011581Depressive disorder2PSYGENET
TgeneFGFR2C0038356Stomach Neoplasms2CTD_human
TgeneFGFR2C1865070SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION2CTD_human;ORPHANET;UNIPROT
TgeneFGFR2C0003090Ankylosis1CTD_human
TgeneFGFR2C0005586Bipolar Disorder1PSYGENET
TgeneFGFR2C0008924Cleft Lip1CTD_human
TgeneFGFR2C0008925Cleft Palate1CTD_human;HPO
TgeneFGFR2C0010273Craniofacial Dysostosis1CTD_human;HPO
TgeneFGFR2C0014170Endometrial Neoplasms1CTD_human
TgeneFGFR2C0018553Hamartoma Syndrome, Multiple1CTD_human
TgeneFGFR2C0023890Liver Cirrhosis1CTD_human
TgeneFGFR2C0024121Lung Neoplasms1CTD_human
TgeneFGFR2C0026613Motor Skills Disorders1CTD_human
TgeneFGFR2C0033975Psychotic Disorders1PSYGENET
TgeneFGFR2C0037268Skin Abnormalities1CTD_human
TgeneFGFR2C0037274Dermatologic disorders1CTD_human
TgeneFGFR2C0040427Tooth Abnormalities1CTD_human
TgeneFGFR2C0080178Spina Bifida1CTD_human
TgeneFGFR2C0206698Cholangiocarcinoma1CTD_human
TgeneFGFR2C0206762Limb Deformities, Congenital1CTD_human
TgeneFGFR2C0265269Lacrimoauriculodentodigital syndrome1CTD_human;ORPHANET;UNIPROT
TgeneFGFR2C0349204Nonorganic psychosis1PSYGENET
TgeneFGFR2C1450010Plagiocephaly, Nonsynostotic1CTD_human;HPO
TgeneFGFR2C1852406Cutis Gyrata Syndrome of Beare And Stevenson1CTD_human;ORPHANET;UNIPROT
TgeneFGFR2C2350233Antley-Bixler Syndrome Phenotype1CTD_human
TgeneFGFR2C3281247BENT BONE DYSPLASIA SYNDROME1ORPHANET;UNIPROT
TgeneFGFR2C3714756Intellectual Disability1CTD_human;HPO