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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:FMR1-ATRX (FusionGDB2 ID:HG2332TG546)

Fusion Gene Summary for FMR1-ATRX

check button Fusion gene summary
Fusion gene informationFusion gene name: FMR1-ATRX
Fusion gene ID: hg2332tg546
HgeneTgene
Gene symbol

FMR1

ATRX

Gene ID

2332

546

Gene nameFMRP translational regulator 1ATRX chromatin remodeler
SynonymsFMRP|FRAXA|POF|POF1JMS|MRX52|RAD54|RAD54L|XH2|XNP|ZNF-HX
Cytomap('FMR1')('ATRX')

Xq27.3

Xq21.1

Type of geneprotein-codingprotein-coding
Descriptionsynaptic functional regulator FMR1fragile X mental retardation 1fragile X mental retardation protein 1truncated FMRPtranscriptional regulator ATRXATP-dependent helicase ATRXX-linked helicase IIX-linked nuclear proteinalpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
Modification date2020031320200313
UniProtAcc

Q06787

.
Ensembl transtripts involved in fusion geneENST00000218200, ENST00000334557, 
ENST00000370470, ENST00000370471, 
ENST00000370475, ENST00000370477, 
ENST00000439526, ENST00000440235, 
ENST00000492846, 
Fusion gene scores* DoF score7 X 3 X 6=12610 X 10 X 8=800
# samples 712
** MAII scorelog2(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 breakpointFMR1(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneFMR1

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

18653529

HgeneFMR1

GO:0002092

positive regulation of receptor internalization

25561520

HgeneFMR1

GO:0006974

cellular response to DNA damage stimulus

24813610

HgeneFMR1

GO:0033129

positive regulation of histone phosphorylation

24813610

HgeneFMR1

GO:0045727

positive regulation of translation

19097999|19166269

HgeneFMR1

GO:0051489

regulation of filopodium assembly

16631377

HgeneFMR1

GO:0060998

regulation of dendritic spine development

16631377

HgeneFMR1

GO:0098586

cellular response to virus

24514761

HgeneFMR1

GO:0098908

regulation of neuronal action potential

25561520

HgeneFMR1

GO:1902416

positive regulation of mRNA binding

25464849

HgeneFMR1

GO:2000637

positive regulation of gene silencing by miRNA

17057366

HgeneFMR1

GO:2001022

positive regulation of response to DNA damage stimulus

24813610

TgeneATRX

GO:0006334

nucleosome assembly

20651253

TgeneATRX

GO:0006338

chromatin remodeling

20651253



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
ChimerDB4OVTCGA-23-2081FMR1chrX

146993748

+ATRXchrX

76829823

-


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Fusion Gene ORF analysis for FMR1-ATRX

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-5UTRENST00000218200ENST00000480283FMR1chrX

146993748

+ATRXchrX

76829823

-
5CDS-5UTRENST00000334557ENST00000480283FMR1chrX

146993748

+ATRXchrX

76829823

-
5CDS-5UTRENST00000370470ENST00000480283FMR1chrX

146993748

+ATRXchrX

76829823

-
5CDS-5UTRENST00000370471ENST00000480283FMR1chrX

146993748

+ATRXchrX

76829823

-
5CDS-5UTRENST00000370475ENST00000480283FMR1chrX

146993748

+ATRXchrX

76829823

-
5CDS-5UTRENST00000370477ENST00000480283FMR1chrX

146993748

+ATRXchrX

76829823

-
5CDS-5UTRENST00000439526ENST00000480283FMR1chrX

146993748

+ATRXchrX

76829823

-
5CDS-intronENST00000218200ENST00000373341FMR1chrX

146993748

+ATRXchrX

76829823

-
5CDS-intronENST00000334557ENST00000373341FMR1chrX

146993748

+ATRXchrX

76829823

-
5CDS-intronENST00000370470ENST00000373341FMR1chrX

146993748

+ATRXchrX

76829823

-
5CDS-intronENST00000370471ENST00000373341FMR1chrX

146993748

+ATRXchrX

76829823

-
5CDS-intronENST00000370475ENST00000373341FMR1chrX

146993748

+ATRXchrX

76829823

-
5CDS-intronENST00000370477ENST00000373341FMR1chrX

146993748

+ATRXchrX

76829823

-
5CDS-intronENST00000439526ENST00000373341FMR1chrX

146993748

+ATRXchrX

76829823

-
Frame-shiftENST00000218200ENST00000373344FMR1chrX

146993748

+ATRXchrX

76829823

-
Frame-shiftENST00000218200ENST00000395603FMR1chrX

146993748

+ATRXchrX

76829823

-
Frame-shiftENST00000334557ENST00000373344FMR1chrX

146993748

+ATRXchrX

76829823

-
Frame-shiftENST00000334557ENST00000395603FMR1chrX

146993748

+ATRXchrX

76829823

-
Frame-shiftENST00000370470ENST00000373344FMR1chrX

146993748

+ATRXchrX

76829823

-
Frame-shiftENST00000370470ENST00000395603FMR1chrX

146993748

+ATRXchrX

76829823

-
Frame-shiftENST00000370471ENST00000373344FMR1chrX

146993748

+ATRXchrX

76829823

-
Frame-shiftENST00000370471ENST00000395603FMR1chrX

146993748

+ATRXchrX

76829823

-
Frame-shiftENST00000370475ENST00000373344FMR1chrX

146993748

+ATRXchrX

76829823

-
Frame-shiftENST00000370475ENST00000395603FMR1chrX

146993748

+ATRXchrX

76829823

-
Frame-shiftENST00000370477ENST00000373344FMR1chrX

146993748

+ATRXchrX

76829823

-
Frame-shiftENST00000370477ENST00000395603FMR1chrX

146993748

+ATRXchrX

76829823

-
Frame-shiftENST00000439526ENST00000373344FMR1chrX

146993748

+ATRXchrX

76829823

-
Frame-shiftENST00000439526ENST00000395603FMR1chrX

146993748

+ATRXchrX

76829823

-
intron-3CDSENST00000440235ENST00000373344FMR1chrX

146993748

+ATRXchrX

76829823

-
intron-3CDSENST00000440235ENST00000395603FMR1chrX

146993748

+ATRXchrX

76829823

-
intron-3CDSENST00000492846ENST00000373344FMR1chrX

146993748

+ATRXchrX

76829823

-
intron-3CDSENST00000492846ENST00000395603FMR1chrX

146993748

+ATRXchrX

76829823

-
intron-5UTRENST00000440235ENST00000480283FMR1chrX

146993748

+ATRXchrX

76829823

-
intron-5UTRENST00000492846ENST00000480283FMR1chrX

146993748

+ATRXchrX

76829823

-
intron-intronENST00000440235ENST00000373341FMR1chrX

146993748

+ATRXchrX

76829823

-
intron-intronENST00000492846ENST00000373341FMR1chrX

146993748

+ATRXchrX

76829823

-

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 FMR1-ATRX


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 FMR1-ATRX


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/: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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FMR1

Q06787

.
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}.

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 FMR1-ATRX


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 FMR1-ATRX


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 FMR1-ATRX


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

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Related Diseases for FMR1-ATRX


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFMR1C0016667Fragile X Syndrome37CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFMR1C0751156FRAXA Syndrome8CTD_human
HgeneFMR1C0751157FRAXE Syndrome8CTD_human
HgeneFMR1C0004352Autistic Disorder5CTD_human
HgeneFMR1C0020796Profound Mental Retardation2CTD_human
HgeneFMR1C0025363Mental Retardation, Psychosocial2CTD_human
HgeneFMR1C0036341Schizophrenia2PSYGENET
HgeneFMR1C0041696Unipolar Depression2PSYGENET
HgeneFMR1C0376634Craniofacial Abnormalities2CTD_human
HgeneFMR1C0917816Mental deficiency2CTD_human
HgeneFMR1C1269683Major Depressive Disorder2PSYGENET
HgeneFMR1C1839780FRAGILE X TREMOR/ATAXIA SYNDROME2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneFMR1C3714756Intellectual Disability2CTD_human
HgeneFMR1C0000768Congenital Abnormality1CTD_human
HgeneFMR1C0003469Anxiety Disorders1CTD_human
HgeneFMR1C0009241Cognition Disorders1CTD_human
HgeneFMR1C0018051Gonadal Dysgenesis1CTD_human
HgeneFMR1C0085215Ovarian Failure, Premature1CTD_human
HgeneFMR1C0086132Depressive Symptoms1PSYGENET
HgeneFMR1C0086367Gonadotropin-Resistant Ovary Syndrome1CTD_human
HgeneFMR1C0282631Facies1CTD_human
HgeneFMR1C0338908Mixed anxiety and depressive disorder1PSYGENET
HgeneFMR1C0376280Anxiety States, Neurotic1CTD_human
HgeneFMR1C0949331Gonadal Agenesis1CTD_human
HgeneFMR1C1279420Anxiety neurosis (finding)1CTD_human
HgeneFMR1C2678248Mood instability1PSYGENET
HgeneFMR1C3275521CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME1ORPHANET
HgeneFMR1C3494522Hypergonadotropic Ovarian Failure, X-Linked1CTD_human
HgeneFMR1C4552079Premature Ovarian Failure 11CTD_human;GENOMICS_ENGLAND
TgeneC0796003Juberg-Marsidi syndrome17CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1845055ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED16CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0017638Glioma2CTD_human
TgeneC0027819Neuroblastoma2CTD_human
TgeneC0259783mixed gliomas2CTD_human
TgeneC0555198Malignant Glioma2CTD_human
TgeneC0010417Cryptorchidism1CTD_human
TgeneC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneC0018273Growth Disorders1CTD_human
TgeneC0030297Pancreatic Neoplasm1CTD_human
TgeneC0030846Penile Diseases1CTD_human
TgeneC0039978Thoracic Diseases1CTD_human
TgeneC0206754Neuroendocrine Tumors1CTD_human
TgeneC0346647Malignant neoplasm of pancreas1CTD_human
TgeneC0376634Craniofacial Abnormalities1CTD_human
TgeneC0431663Bilateral Cryptorchidism1CTD_human
TgeneC0431664Unilateral Cryptorchidism1CTD_human
TgeneC0585216Alpha-Thalassemia Myelodysplasia Syndrome1CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0796159Mental retardation Smith Fineman Myers type1ORPHANET
TgeneC1136249Mental Retardation, X-Linked1CTD_human
TgeneC1563730Abdominal Cryptorchidism1CTD_human
TgeneC1563731Inguinal Cryptorchidism1CTD_human
TgeneC2713368Hematopoetic Myelodysplasia1CTD_human
TgeneC3463824MYELODYSPLASTIC SYNDROME1CTD_human