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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:RMND5A-FGFR1 (FusionGDB2 ID:HG64795TG2260)

Fusion Gene Summary for RMND5A-FGFR1

check button Fusion gene summary
Fusion gene informationFusion gene name: RMND5A-FGFR1
Fusion gene ID: hg64795tg2260
HgeneTgene
Gene symbol

RMND5A

FGFR1

Gene ID

64795

2260

Gene namerequired for meiotic nuclear division 5 homolog Afibroblast growth factor receptor 1
SynonymsCTLH|GID2|GID2A|RMD5|p44CTLHBFGFR|CD331|CEK|ECCL|FGFBR|FGFR-1|FLG|FLT-2|FLT2|HBGFR|HH2|HRTFDS|KAL2|N-SAM|OGD|bFGF-R-1
Cytomap('RMND5A')('FGFR1')

2p11.2

8p11.23

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein transferase RMND5A44-kD protein coding for CTLH motifC-terminal to LisH motif, 44 kDaGID complex subunit 2 homolog Aprotein RMD5 homolog Afibroblast growth factor receptor 1FGFR1/PLAG1 fusionFMS-like tyrosine kinase 2basic fibroblast growth factor receptor 1fms-related tyrosine kinase 2heparin-binding growth factor receptorhydroxyaryl-protein kinaseproto-oncogene c-Fgr
Modification date2020031320200329
UniProtAcc.

P11362

Ensembl transtripts involved in fusion geneENST00000283632, ENST00000472843, 
Fusion gene scores* DoF score5 X 5 X 4=10025 X 34 X 7=5950
# samples 622
** MAII scorelog2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(22/5950*10)=-4.75731423955801
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RMND5A [Title/Abstract] AND FGFR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRMND5A(86961980)-FGFR1(38270244), # 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
TgeneFGFR1

GO:0008284

positive regulation of cell proliferation

8663044

TgeneFGFR1

GO:0008543

fibroblast growth factor receptor signaling pathway

8663044

TgeneFGFR1

GO:0010863

positive regulation of phospholipase C activity

18480409

TgeneFGFR1

GO:0018108

peptidyl-tyrosine phosphorylation

8622701|18480409

TgeneFGFR1

GO:0043406

positive regulation of MAP kinase activity

8622701|18480409

TgeneFGFR1

GO:0046777

protein autophosphorylation

8622701

TgeneFGFR1

GO:2000546

positive regulation of endothelial cell chemotaxis to fibroblast growth factor

21885851



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChiTaRS5.0N/ABI491730RMND5Achr2

86961980

+FGFR1chr8

38270244

+


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Fusion Gene ORF analysis for RMND5A-FGFR1

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
intron-3UTRENST00000283632ENST00000341462RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-3UTRENST00000283632ENST00000397091RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-3UTRENST00000283632ENST00000425967RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-3UTRENST00000283632ENST00000447712RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-3UTRENST00000283632ENST00000532791RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-3UTRENST00000472843ENST00000341462RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-3UTRENST00000472843ENST00000397091RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-3UTRENST00000472843ENST00000425967RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-3UTRENST00000472843ENST00000447712RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-3UTRENST00000472843ENST00000532791RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-intronENST00000283632ENST00000326324RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-intronENST00000283632ENST00000335922RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-intronENST00000283632ENST00000356207RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-intronENST00000283632ENST00000397103RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-intronENST00000283632ENST00000397108RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-intronENST00000283632ENST00000397113RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-intronENST00000283632ENST00000496629RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-intronENST00000472843ENST00000326324RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-intronENST00000472843ENST00000335922RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-intronENST00000472843ENST00000356207RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-intronENST00000472843ENST00000397103RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-intronENST00000472843ENST00000397108RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-intronENST00000472843ENST00000397113RMND5Achr2

86961980

+FGFR1chr8

38270244

+
intron-intronENST00000472843ENST00000496629RMND5Achr2

86961980

+FGFR1chr8

38270244

+

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 RMND5A-FGFR1


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 RMND5A-FGFR1


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/:86961980/:38270244)
- 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
.FGFR1

P11362

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}.FUNCTION: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. 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. Promotes phosphorylation of SHC1, STAT1 and PTPN11/SHP2. In the nucleus, enhances RPS6KA1 and CREB1 activity and contributes to the regulation of transcription. FGFR1 signaling is down-regulated by IL17RD/SEF, and by FGFR1 ubiquitination, internalization and degradation. {ECO:0000250|UniProtKB:P16092, ECO:0000269|PubMed:10830168, ECO:0000269|PubMed:11353842, ECO:0000269|PubMed:12181353, ECO:0000269|PubMed:1379697, ECO:0000269|PubMed:1379698, ECO:0000269|PubMed:15117958, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:17311277, ECO:0000269|PubMed:17623664, ECO:0000269|PubMed:18480409, ECO:0000269|PubMed:19224897, ECO:0000269|PubMed:19261810, ECO:0000269|PubMed:19665973, ECO:0000269|PubMed:20133753, ECO:0000269|PubMed:20139426, ECO:0000269|PubMed:21765395, ECO:0000269|PubMed:8622701, 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 RMND5A-FGFR1


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 RMND5A-FGFR1


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 RMND5A-FGFR1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneFGFR1P11362DB00039PaliferminAgonistBiotechApproved
TgeneFGFR1P11362DB00039PaliferminAgonistBiotechApproved
TgeneFGFR1P11362DB00039PaliferminAgonistBiotechApproved
TgeneFGFR1P11362DB00039PaliferminAgonistBiotechApproved
TgeneFGFR1P11362DB00039PaliferminAgonistBiotechApproved
TgeneFGFR1P11362DB00039PaliferminAgonistBiotechApproved
TgeneFGFR1P11362DB00039PaliferminAgonistBiotechApproved
TgeneFGFR1P11362DB08896RegorafenibInhibitorSmall moleculeApproved
TgeneFGFR1P11362DB08896RegorafenibInhibitorSmall moleculeApproved
TgeneFGFR1P11362DB08896RegorafenibInhibitorSmall moleculeApproved
TgeneFGFR1P11362DB08896RegorafenibInhibitorSmall moleculeApproved
TgeneFGFR1P11362DB08896RegorafenibInhibitorSmall moleculeApproved
TgeneFGFR1P11362DB08896RegorafenibInhibitorSmall moleculeApproved
TgeneFGFR1P11362DB08896RegorafenibInhibitorSmall moleculeApproved
TgeneFGFR1P11362DB09079NintedanibInhibitorSmall moleculeApproved
TgeneFGFR1P11362DB09079NintedanibInhibitorSmall moleculeApproved
TgeneFGFR1P11362DB09079NintedanibInhibitorSmall moleculeApproved
TgeneFGFR1P11362DB09079NintedanibInhibitorSmall moleculeApproved
TgeneFGFR1P11362DB09079NintedanibInhibitorSmall moleculeApproved
TgeneFGFR1P11362DB09079NintedanibInhibitorSmall moleculeApproved
TgeneFGFR1P11362DB09079NintedanibInhibitorSmall moleculeApproved
TgeneFGFR1P11362DB00398SorafenibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB00398SorafenibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB00398SorafenibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB00398SorafenibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB00398SorafenibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB00398SorafenibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB00398SorafenibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB01109HeparinSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB01109HeparinSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB01109HeparinSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB01109HeparinSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB01109HeparinSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB01109HeparinSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB01109HeparinSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational
TgeneFGFR1P11362DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for RMND5A-FGFR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC1563720Kallmann Syndrome 2 (disorder)18CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1845146Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate6GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0011570Mental Depression5PSYGENET
TgeneC0011581Depressive disorder5CTD_human;PSYGENET
TgeneC0220658Pfeiffer Syndrome5GENOMICS_ENGLAND;UNIPROT
TgeneC0432283Osteoglophonic dwarfism5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0041696Unipolar Depression4CTD_human;PSYGENET
TgeneC0406612Encephalocraniocutaneous lipomatosis4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0005586Bipolar Disorder3PSYGENET
TgeneC0795998JACKSON-WEISS SYNDROME3CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1269683Major Depressive Disorder3PSYGENET
TgeneC0006142Malignant neoplasm of breast2CGI;CTD_human
TgeneC0007131Non-Small Cell Lung Carcinoma2CTD_human
TgeneC0007137Squamous cell carcinoma2CTD_human
TgeneC0027022Myeloproliferative disease2CTD_human
TgeneC0162809Kallmann Syndrome2CTD_human;ORPHANET
TgeneC0432122Interfrontal craniofaciosynostosis2GENOMICS_ENGLAND;UNIPROT
TgeneC0678222Breast Carcinoma2CGI;CTD_human
TgeneC1257931Mammary Neoplasms, Human2CTD_human
TgeneC1458155Mammary Neoplasms2CTD_human
TgeneC4704874Mammary Carcinoma, Human2CTD_human
TgeneC0004114Astrocytoma1CTD_human
TgeneC0008924Cleft upper lip1CTD_human
TgeneC0008925Cleft Palate1CTD_human
TgeneC0010278Craniosynostosis1CTD_human;GENOMICS_ENGLAND
TgeneC0011573Endogenous depression1CTD_human
TgeneC0017638Glioma1CTD_human
TgeneC0018824Heart valve disease1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0025193Melancholia1CTD_human
TgeneC0036341Schizophrenia1CTD_human
TgeneC0085682Hypophosphatemia1GENOMICS_ENGLAND
TgeneC0086133Depressive Syndrome1CTD_human
TgeneC0149925Small cell carcinoma of lung1CTD_human
TgeneC0205768Subependymal Giant Cell Astrocytoma1CTD_human
TgeneC0206726gliosarcoma1ORPHANET
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0259783mixed gliomas1CTD_human
TgeneC0265535Trigonocephaly1CTD_human;ORPHANET
TgeneC0280783Juvenile Pilocytic Astrocytoma1CTD_human
TgeneC0280785Diffuse Astrocytoma1CTD_human
TgeneC0282126Depression, Neurotic1CTD_human
TgeneC0334579Anaplastic astrocytoma1CTD_human
TgeneC0334580Protoplasmic astrocytoma1CTD_human
TgeneC0334581Gemistocytic astrocytoma1CTD_human
TgeneC0334582Fibrillary Astrocytoma1CTD_human
TgeneC0334583Pilocytic Astrocytoma1CTD_human
TgeneC0334588Giant Cell Glioblastoma1ORPHANET
TgeneC0338070Childhood Cerebral Astrocytoma1CTD_human
TgeneC0338503Septo-Optic Dysplasia1ORPHANET
TgeneC0342384Idiopathic hypogonadotropic hypogonadism1GENOMICS_ENGLAND
TgeneC0376634Craniofacial Abnormalities1CTD_human
TgeneC0431362Lobar Holoprosencephaly1ORPHANET
TgeneC0547065Mixed oligoastrocytoma1CTD_human
TgeneC0555198Malignant Glioma1CTD_human
TgeneC0750935Cerebral Astrocytoma1CTD_human
TgeneC0750936Intracranial Astrocytoma1CTD_human
TgeneC0751617Semilobar Holoprosencephaly1ORPHANET
TgeneC1519086Pilomyxoid astrocytoma1ORPHANET
TgeneC1704230Grade I Astrocytoma1CTD_human
TgeneC1837218Cleft palate, isolated1CTD_human
TgeneC1852406Cutis Gyrata Syndrome of Beare And Stevenson1GENOMICS_ENGLAND
TgeneC2931196Craniofacial dysostosis type 11GENOMICS_ENGLAND
TgeneC3150773CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME1ORPHANET