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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:FMR1-ATRX (FusionGDB2 ID:HG2332TG546) |
Fusion Gene Summary for FMR1-ATRX |
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Fusion gene information | Fusion gene name: FMR1-ATRX | Fusion gene ID: hg2332tg546 | Hgene | Tgene | Gene symbol | FMR1 | ATRX | Gene ID | 2332 | 546 |
Gene name | FMRP translational regulator 1 | ATRX chromatin remodeler | |
Synonyms | FMRP|FRAXA|POF|POF1 | JMS|MRX52|RAD54|RAD54L|XH2|XNP|ZNF-HX | |
Cytomap | ('FMR1')('ATRX') Xq27.3 | Xq21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | synaptic functional regulator FMR1fragile X mental retardation 1fragile X mental retardation protein 1truncated FMRP | transcriptional regulator ATRXATP-dependent helicase ATRXX-linked helicase IIX-linked nuclear proteinalpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q06787 | . | |
Ensembl transtripts involved in fusion gene | ENST00000218200, ENST00000334557, ENST00000370470, ENST00000370471, ENST00000370475, ENST00000370477, ENST00000439526, ENST00000440235, ENST00000492846, | ||
Fusion gene scores | * DoF score | 7 X 3 X 6=126 | 10 X 10 X 8=800 |
# samples | 7 | 12 | |
** MAII score | log2(7/126*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/800*10)=-2.73696559416621 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: FMR1 [Title/Abstract] AND ATRX [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | FMR1(146993748)-ATRX(76829823), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | FMR1-ATRX seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. FMR1-ATRX seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | FMR1 | GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | 18653529 |
Hgene | FMR1 | GO:0002092 | positive regulation of receptor internalization | 25561520 |
Hgene | FMR1 | GO:0006974 | cellular response to DNA damage stimulus | 24813610 |
Hgene | FMR1 | GO:0033129 | positive regulation of histone phosphorylation | 24813610 |
Hgene | FMR1 | GO:0045727 | positive regulation of translation | 19097999|19166269 |
Hgene | FMR1 | GO:0051489 | regulation of filopodium assembly | 16631377 |
Hgene | FMR1 | GO:0060998 | regulation of dendritic spine development | 16631377 |
Hgene | FMR1 | GO:0098586 | cellular response to virus | 24514761 |
Hgene | FMR1 | GO:0098908 | regulation of neuronal action potential | 25561520 |
Hgene | FMR1 | GO:1902416 | positive regulation of mRNA binding | 25464849 |
Hgene | FMR1 | GO:2000637 | positive regulation of gene silencing by miRNA | 17057366 |
Hgene | FMR1 | GO:2001022 | positive regulation of response to DNA damage stimulus | 24813610 |
Tgene | ATRX | GO:0006334 | nucleosome assembly | 20651253 |
Tgene | ATRX | GO:0006338 | chromatin remodeling | 20651253 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | OV | TCGA-23-2081 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
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Fusion Gene ORF analysis for FMR1-ATRX |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-5UTR | ENST00000218200 | ENST00000480283 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
5CDS-5UTR | ENST00000334557 | ENST00000480283 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
5CDS-5UTR | ENST00000370470 | ENST00000480283 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
5CDS-5UTR | ENST00000370471 | ENST00000480283 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
5CDS-5UTR | ENST00000370475 | ENST00000480283 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
5CDS-5UTR | ENST00000370477 | ENST00000480283 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
5CDS-5UTR | ENST00000439526 | ENST00000480283 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
5CDS-intron | ENST00000218200 | ENST00000373341 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
5CDS-intron | ENST00000334557 | ENST00000373341 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
5CDS-intron | ENST00000370470 | ENST00000373341 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
5CDS-intron | ENST00000370471 | ENST00000373341 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
5CDS-intron | ENST00000370475 | ENST00000373341 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
5CDS-intron | ENST00000370477 | ENST00000373341 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
5CDS-intron | ENST00000439526 | ENST00000373341 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
Frame-shift | ENST00000218200 | ENST00000373344 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
Frame-shift | ENST00000218200 | ENST00000395603 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
Frame-shift | ENST00000334557 | ENST00000373344 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
Frame-shift | ENST00000334557 | ENST00000395603 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
Frame-shift | ENST00000370470 | ENST00000373344 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
Frame-shift | ENST00000370470 | ENST00000395603 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
Frame-shift | ENST00000370471 | ENST00000373344 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
Frame-shift | ENST00000370471 | ENST00000395603 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
Frame-shift | ENST00000370475 | ENST00000373344 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
Frame-shift | ENST00000370475 | ENST00000395603 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
Frame-shift | ENST00000370477 | ENST00000373344 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
Frame-shift | ENST00000370477 | ENST00000395603 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
Frame-shift | ENST00000439526 | ENST00000373344 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
Frame-shift | ENST00000439526 | ENST00000395603 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
intron-3CDS | ENST00000440235 | ENST00000373344 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
intron-3CDS | ENST00000440235 | ENST00000395603 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
intron-3CDS | ENST00000492846 | ENST00000373344 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
intron-3CDS | ENST00000492846 | ENST00000395603 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
intron-5UTR | ENST00000440235 | ENST00000480283 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
intron-5UTR | ENST00000492846 | ENST00000480283 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
intron-intron | ENST00000440235 | ENST00000373341 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
intron-intron | ENST00000492846 | ENST00000373341 | FMR1 | chrX | 146993748 | + | ATRX | chrX | 76829823 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for FMR1-ATRX |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for FMR1-ATRX |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:146993748/:76829823) - 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. |
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Hgene | Tgene |
FMR1 | . |
FUNCTION: Multifunctional polyribosome-associated RNA-binding protein that plays a central role in neuronal development and synaptic plasticity through the regulation of alternative mRNA splicing, mRNA stability, mRNA dendritic transport and postsynaptic local protein synthesis of a subset of mRNAs (PubMed:16631377, PubMed:18653529, PubMed:19166269, PubMed:23235829, PubMed:25464849). Plays a role in the alternative splicing of its own mRNA (PubMed:18653529). Plays a role in mRNA nuclear export (By similarity). Together with export factor NXF2, is involved in the regulation of the NXF1 mRNA stability in neurons (By similarity). Stabilizes the scaffolding postsynaptic density protein DLG4/PSD-95 and the myelin basic protein (MBP) mRNAs in hippocampal neurons and glial cells, respectively; this stabilization is further increased in response to metabotropic glutamate receptor (mGluR) stimulation (By similarity). Plays a role in selective delivery of a subset of dendritic mRNAs to synaptic sites in response to mGluR activation in a kinesin-dependent manner (By similarity). Plays a role as a repressor of mRNA translation during the transport of dendritic mRNAs to postsynaptic dendritic spines (PubMed:11532944, PubMed:11157796, PubMed:12594214, PubMed:23235829). Component of the CYFIP1-EIF4E-FMR1 complex which blocks cap-dependent mRNA translation initiation (By similarity). Represses mRNA translation by stalling ribosomal translocation during elongation (By similarity). Reports are contradictory with regards to its ability to mediate translation inhibition of MBP mRNA in oligodendrocytes (PubMed:23891804). Also involved in the recruitment of the RNA helicase MOV10 to a subset of mRNAs and hence regulates microRNA (miRNA)-mediated translational repression by AGO2 (PubMed:14703574, PubMed:17057366, PubMed:25464849). Facilitates the assembly of miRNAs on specific target mRNAs (PubMed:17057366). Plays also a role as an activator of mRNA translation of a subset of dendritic mRNAs at synapses (PubMed:19097999, PubMed:19166269). In response to mGluR stimulation, FMR1-target mRNAs are rapidly derepressed, allowing for local translation at synapses (By similarity). Binds to a large subset of dendritic mRNAs that encode a myriad of proteins involved in pre- and postsynaptic functions (PubMed:7692601, PubMed:11719189, PubMed:11157796, PubMed:12594214, PubMed:17417632, PubMed:23235829, PubMed:24448548). Binds to 5'-ACU[GU]-3' and/or 5'-[AU]GGA-3' RNA consensus sequences within mRNA targets, mainly at coding sequence (CDS) and 3'-untranslated region (UTR) and less frequently at 5'-UTR (PubMed:23235829). Binds to intramolecular G-quadruplex structures in the 5'- or 3'-UTRs of mRNA targets (PubMed:11719189, PubMed:18579868, PubMed:25464849, PubMed:25692235). Binds to G-quadruplex structures in the 3'-UTR of its own mRNA (PubMed:7692601, PubMed:11532944, PubMed:12594214, PubMed:15282548, PubMed:18653529). Binds also to RNA ligands harboring a kissing complex (kc) structure; this binding may mediate the association of FMR1 with polyribosomes (PubMed:15805463). Binds mRNAs containing U-rich target sequences (PubMed:12927206). Binds to a triple stem-loop RNA structure, called Sod1 stem loop interacting with FMRP (SoSLIP), in the 5'-UTR region of superoxide dismutase SOD1 mRNA (PubMed:19166269). Binds to the dendritic, small non-coding brain cytoplasmic RNA 1 (BC1); which may increase the association of the CYFIP1-EIF4E-FMR1 complex to FMR1 target mRNAs at synapses (By similarity). Associates with export factor NXF1 mRNA-containing ribonucleoprotein particles (mRNPs) in a NXF2-dependent manner (By similarity). Binds to a subset of miRNAs in the brain (PubMed:14703574, PubMed:17057366). May associate with nascent transcripts in a nuclear protein NXF1-dependent manner (PubMed:18936162). In vitro, binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:7688265, PubMed:7781595, PubMed:12950170, PubMed:15381419, PubMed:8156595). Moreover, plays a role in the modulation of the sodium-activated potassium channel KCNT1 gating activity (PubMed:20512134). Negatively regulates the voltage-dependent calcium channel current density in soma and presynaptic terminals of dorsal root ganglion (DRG) neurons, and hence regulates synaptic vesicle exocytosis (By similarity). Modulates the voltage-dependent calcium channel CACNA1B expression at the plasma membrane by targeting the channels for proteosomal degradation (By similarity). Plays a role in regulation of MAP1B-dependent microtubule dynamics during neuronal development (By similarity). Recently, has been shown to play a translation-independent role in the modulation of presynaptic action potential (AP) duration and neurotransmitter release via large-conductance calcium-activated potassium (BK) channels in hippocampal and cortical excitatory neurons (PubMed:25561520). Finally, FMR1 may be involved in the control of DNA damage response (DDR) mechanisms through the regulation of ATR-dependent signaling pathways such as histone H2AX/H2A.x and BRCA1 phosphorylations (PubMed:24813610). {ECO:0000250|UniProtKB:P35922, ECO:0000250|UniProtKB:Q80WE1, ECO:0000269|PubMed:11157796, ECO:0000269|PubMed:11532944, ECO:0000269|PubMed:11719189, ECO:0000269|PubMed:12594214, ECO:0000269|PubMed:12927206, ECO:0000269|PubMed:12950170, ECO:0000269|PubMed:14703574, ECO:0000269|PubMed:15282548, ECO:0000269|PubMed:15381419, ECO:0000269|PubMed:15805463, ECO:0000269|PubMed:16631377, ECO:0000269|PubMed:17057366, ECO:0000269|PubMed:17417632, ECO:0000269|PubMed:18579868, ECO:0000269|PubMed:18653529, ECO:0000269|PubMed:18936162, ECO:0000269|PubMed:19097999, ECO:0000269|PubMed:19166269, ECO:0000269|PubMed:20512134, ECO:0000269|PubMed:23235829, ECO:0000269|PubMed:23891804, ECO:0000269|PubMed:24448548, ECO:0000269|PubMed:24813610, ECO:0000269|PubMed:25464849, ECO:0000269|PubMed:25561520, ECO:0000269|PubMed:25692235, ECO:0000269|PubMed:7688265, ECO:0000269|PubMed:7692601, ECO:0000269|PubMed:7781595, ECO:0000269|PubMed:8156595}.; FUNCTION: [Isoform 10]: binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:24204304). May bind to RNA in Cajal bodies (PubMed:24204304). {ECO:0000269|PubMed:24204304}.; FUNCTION: [Isoform 6]: binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:24204304). May bind to RNA in Cajal bodies (PubMed:24204304). {ECO:0000269|PubMed:24204304}.; FUNCTION: (Microbial infection) Acts as a positive regulator of influenza A virus (IAV) replication. Required for the assembly and nuclear export of the viral ribonucleoprotein (vRNP) components. {ECO:0000269|PubMed:24514761}. | 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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for FMR1-ATRX |
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Fusion Gene PPI Analysis for FMR1-ATRX |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for FMR1-ATRX |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for FMR1-ATRX |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | FMR1 | C0016667 | Fragile X Syndrome | 37 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | FMR1 | C0751156 | FRAXA Syndrome | 8 | CTD_human |
Hgene | FMR1 | C0751157 | FRAXE Syndrome | 8 | CTD_human |
Hgene | FMR1 | C0004352 | Autistic Disorder | 5 | CTD_human |
Hgene | FMR1 | C0020796 | Profound Mental Retardation | 2 | CTD_human |
Hgene | FMR1 | C0025363 | Mental Retardation, Psychosocial | 2 | CTD_human |
Hgene | FMR1 | C0036341 | Schizophrenia | 2 | PSYGENET |
Hgene | FMR1 | C0041696 | Unipolar Depression | 2 | PSYGENET |
Hgene | FMR1 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
Hgene | FMR1 | C0917816 | Mental deficiency | 2 | CTD_human |
Hgene | FMR1 | C1269683 | Major Depressive Disorder | 2 | PSYGENET |
Hgene | FMR1 | C1839780 | FRAGILE X TREMOR/ATAXIA SYNDROME | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | FMR1 | C3714756 | Intellectual Disability | 2 | CTD_human |
Hgene | FMR1 | C0000768 | Congenital Abnormality | 1 | CTD_human |
Hgene | FMR1 | C0003469 | Anxiety Disorders | 1 | CTD_human |
Hgene | FMR1 | C0009241 | Cognition Disorders | 1 | CTD_human |
Hgene | FMR1 | C0018051 | Gonadal Dysgenesis | 1 | CTD_human |
Hgene | FMR1 | C0085215 | Ovarian Failure, Premature | 1 | CTD_human |
Hgene | FMR1 | C0086132 | Depressive Symptoms | 1 | PSYGENET |
Hgene | FMR1 | C0086367 | Gonadotropin-Resistant Ovary Syndrome | 1 | CTD_human |
Hgene | FMR1 | C0282631 | Facies | 1 | CTD_human |
Hgene | FMR1 | C0338908 | Mixed anxiety and depressive disorder | 1 | PSYGENET |
Hgene | FMR1 | C0376280 | Anxiety States, Neurotic | 1 | CTD_human |
Hgene | FMR1 | C0949331 | Gonadal Agenesis | 1 | CTD_human |
Hgene | FMR1 | C1279420 | Anxiety neurosis (finding) | 1 | CTD_human |
Hgene | FMR1 | C2678248 | Mood instability | 1 | PSYGENET |
Hgene | FMR1 | C3275521 | CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME | 1 | ORPHANET |
Hgene | FMR1 | C3494522 | Hypergonadotropic Ovarian Failure, X-Linked | 1 | CTD_human |
Hgene | FMR1 | C4552079 | Premature Ovarian Failure 1 | 1 | CTD_human;GENOMICS_ENGLAND |
Tgene | C0796003 | Juberg-Marsidi syndrome | 17 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C1845055 | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED | 16 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0017638 | Glioma | 2 | CTD_human | |
Tgene | C0027819 | Neuroblastoma | 2 | CTD_human | |
Tgene | C0259783 | mixed gliomas | 2 | CTD_human | |
Tgene | C0555198 | Malignant Glioma | 2 | CTD_human | |
Tgene | C0010417 | Cryptorchidism | 1 | CTD_human | |
Tgene | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human | |
Tgene | C0018273 | Growth Disorders | 1 | CTD_human | |
Tgene | C0030297 | Pancreatic Neoplasm | 1 | CTD_human | |
Tgene | C0030846 | Penile Diseases | 1 | CTD_human | |
Tgene | C0039978 | Thoracic Diseases | 1 | CTD_human | |
Tgene | C0206754 | Neuroendocrine Tumors | 1 | CTD_human | |
Tgene | C0346647 | Malignant neoplasm of pancreas | 1 | CTD_human | |
Tgene | C0376634 | Craniofacial Abnormalities | 1 | CTD_human | |
Tgene | C0431663 | Bilateral Cryptorchidism | 1 | CTD_human | |
Tgene | C0431664 | Unilateral Cryptorchidism | 1 | CTD_human | |
Tgene | C0585216 | Alpha-Thalassemia Myelodysplasia Syndrome | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0796159 | Mental retardation Smith Fineman Myers type | 1 | ORPHANET | |
Tgene | C1136249 | Mental Retardation, X-Linked | 1 | CTD_human | |
Tgene | C1563730 | Abdominal Cryptorchidism | 1 | CTD_human | |
Tgene | C1563731 | Inguinal Cryptorchidism | 1 | CTD_human | |
Tgene | C2713368 | Hematopoetic Myelodysplasia | 1 | CTD_human | |
Tgene | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | CTD_human |