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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:FUS-KCTD5

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: FUS-KCTD5
FusionPDB ID: 31807
FusionGDB2.0 ID: 31807
HgeneTgene
Gene symbol

FUS

KCTD5

Gene ID

2521

54442

Gene nameFUS RNA binding proteinpotassium channel tetramerization domain containing 5
SynonymsALS6|ETM4|FUS1|HNRNPP2|POMP75|TLS-
Cytomap

16p11.2

16p13.3

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein FUS75 kDa DNA-pairing proteinfus-like proteinfused in sarcomafusion gene in myxoid liposarcomaheterogeneous nuclear ribonucleoprotein P2oncogene FUSoncogene TLStranslocated in liposarcoma proteinBTB/POZ domain-containing protein KCTD5potassium channel tetramerisation domain containing 5
Modification date2020032920200313
UniProtAcc

P35637

Q9NXV2

Ensembl transtripts involved in fusion geneENST idsENST00000254108, ENST00000380244, 
ENST00000568685, ENST00000474990, 
ENST00000569689, ENST00000564195, 
ENST00000301738, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score37 X 37 X 16=219049 X 8 X 8=576
# samples 4412
** MAII scorelog2(44/21904*10)=-5.63754701773324
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/576*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: FUS [Title/Abstract] AND KCTD5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)FUS(31191548)-KCTD5(2757299), # samples:1
Anticipated loss of major functional domain due to fusion event.FUS-KCTD5 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
FUS-KCTD5 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
FUS-KCTD5 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
FUS-KCTD5 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
FUS-KCTD5 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
FUS-KCTD5 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneFUS

GO:0006355

regulation of transcription, DNA-templated

26124092

HgeneFUS

GO:0006357

regulation of transcription by RNA polymerase II

25453086

HgeneFUS

GO:0008380

RNA splicing

26124092

HgeneFUS

GO:0043484

regulation of RNA splicing

25453086|27731383

HgeneFUS

GO:0048255

mRNA stabilization

27378374

HgeneFUS

GO:0051260

protein homooligomerization

25453086

HgeneFUS

GO:1905168

positive regulation of double-strand break repair via homologous recombination

10567410


check buttonFusion gene breakpoints across FUS (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across KCTD5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4Non-CancerERR315469FUSchr16

31191548

+KCTD5chr16

2757299

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000254108FUSchr1631191548+ENST00000301738KCTD5chr162757299+1851118319663114
ENST00000380244FUSchr1631191548+ENST00000301738KCTD5chr162757299+182289290634114
ENST00000568685FUSchr1631191548+ENST00000301738KCTD5chr162757299+181077278622114

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
ENST00000254108ENST00000301738FUSchr1631191548+KCTD5chr162757299+0.82027530.17972462
ENST00000380244ENST00000301738FUSchr1631191548+KCTD5chr162757299+0.91733470.08266538
ENST00000568685ENST00000301738FUSchr1631191548+KCTD5chr162757299+0.90206450.09793549

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>31807_31807_1_FUS-KCTD5_FUS_chr16_31191548_ENST00000254108_KCTD5_chr16_2757299_ENST00000301738_length(amino acids)=114AA_BP=
MSKARRPQVGGARRPGGRCLLGGPRSVFSKCHVGLRQTLPVSPLDPEDRVKEAFLVLHTVWKSSLGFTGRKRPQPRQCPARRGLWSDHQA

--------------------------------------------------------------

>31807_31807_2_FUS-KCTD5_FUS_chr16_31191548_ENST00000380244_KCTD5_chr16_2757299_ENST00000301738_length(amino acids)=114AA_BP=
MSKARRPQVGGARRPGGRCLLGGPRSVFSKCHVGLRQTLPVSPLDPEDRVKEAFLVLHTVWKSSLGFTGRKRPQPRQCPARRGLWSDHQA

--------------------------------------------------------------

>31807_31807_3_FUS-KCTD5_FUS_chr16_31191548_ENST00000568685_KCTD5_chr16_2757299_ENST00000301738_length(amino acids)=114AA_BP=
MSKARRPQVGGARRPGGRCLLGGPRSVFSKCHVGLRQTLPVSPLDPEDRVKEAFLVLHTVWKSSLGFTGRKRPQPRQCPARRGLWSDHQA

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr16:31191548/chr16:2757299)
- 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
FUS

P35637

KCTD5

Q9NXV2

FUNCTION: DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response (PubMed:27731383). Binds to nascent pre-mRNAs and acts as a molecular mediator between RNA polymerase II and U1 small nuclear ribonucleoprotein thereby coupling transcription and splicing (PubMed:26124092). Binds also its own pre-mRNA and autoregulates its expression; this autoregulation mechanism is mediated by non-sense-mediated decay (PubMed:24204307). Plays a role in DNA repair mechanisms by promoting D-loop formation and homologous recombination during DNA double-strand break repair (PubMed:10567410). In neuronal cells, plays crucial roles in dendritic spine formation and stability, RNA transport, mRNA stability and synaptic homeostasis (By similarity). {ECO:0000250|UniProtKB:P56959, ECO:0000269|PubMed:10567410, ECO:0000269|PubMed:24204307, ECO:0000269|PubMed:26124092, ECO:0000269|PubMed:27731383}.FUNCTION: Its interaction with CUL3 suggests that it may act as a substrate adapter in some E3 ligase complex (PubMed:18573101). Does not affect the function of Kv channel Kv2.1/KCNB1, Kv1.2/KCNA2, Kv4.2/KCND2 and Kv3.4/KCNC4 (PubMed:19361449). {ECO:0000269|PubMed:18573101, ECO:0000269|PubMed:19361449}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFUSchr16:31191548chr16:2757299ENST00000254108+115166_2674.333333333333333527.0Compositional biasNote=Gly-rich
HgeneFUSchr16:31191548chr16:2757299ENST00000254108+1151_1654.333333333333333527.0Compositional biasNote=Gln/Gly/Ser/Tyr-rich
HgeneFUSchr16:31191548chr16:2757299ENST00000254108+115371_5264.333333333333333527.0Compositional biasNote=Arg/Gly-rich
HgeneFUSchr16:31191548chr16:2757299ENST00000380244+115166_2674.333333333333333526.0Compositional biasNote=Gly-rich
HgeneFUSchr16:31191548chr16:2757299ENST00000380244+1151_1654.333333333333333526.0Compositional biasNote=Gln/Gly/Ser/Tyr-rich
HgeneFUSchr16:31191548chr16:2757299ENST00000380244+115371_5264.333333333333333526.0Compositional biasNote=Arg/Gly-rich
HgeneFUSchr16:31191548chr16:2757299ENST00000254108+115285_3714.333333333333333527.0DomainRRM
HgeneFUSchr16:31191548chr16:2757299ENST00000380244+115285_3714.333333333333333526.0DomainRRM
HgeneFUSchr16:31191548chr16:2757299ENST00000254108+115422_4534.333333333333333527.0Zinc fingerRanBP2-type
HgeneFUSchr16:31191548chr16:2757299ENST00000380244+115422_4534.333333333333333526.0Zinc fingerRanBP2-type
TgeneKCTD5chr16:31191548chr16:2757299ENST000003017384644_146225.0235.0DomainNote=BTB


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
FUSEIF6, USF2, PRMT1, PTBP2, SRRM1, SPI1, YBX1, ILF3, SF1, SRSF10, THRA, RXRA, RELA, OTUB1, ZMYM2, SARNP, TARDBP, Mapk13, DGCR8, Pds5a, Shoc2, Ccdc15, PCM1, SF3A2, SIRT7, SQSTM1, TDRD3, CUL3, CUL4A, CUL4B, CUL5, CUL2, CDK2, CUL1, COPS5, COPS6, DCUN1D1, CAND1, NEDD8, ARHGEF28, PA2G4, UBE2I, ATXN1L, GRB2, PIK3R2, HNRNPA3, NONO, EEF1A1, DYNC1H1, GSE1, MBD3, MRPS18B, SAP30BP, RPLP1, ESR1, FN1, VCAM1, TP63, IL7R, UBL4A, ITGA4, CTNNB1, ECM32, NAM8, SBP1, SKO1, VHR1, UPF1, LMNA, EWSR1, RBMX, PSMB7, ESRRA, MDH1, TAF15, SRSF9, SAFB2, TNIP1, KHDRBS3, NKD2, MAX, PARK2, SUV39H1, WBP4, HNRNPU, LARS, rev, RPA3, RPA2, RPA1, WWOX, HSPA5, VCP, SFPQ, YWHAZ, YWHAQ, PFN1, FASN, PGK1, CKB, ENO1, LDHB, PAICS, PHGDH, LDHA, GAPDH, PKM, ATXN2L, MTHFD1, ACACA, CA2, ALDOA, GPI, PYCRL, PFKL, PGM1, ABCA1, HPRT1, PM20D2, TKT, UBA1, PSMD12, CDH4, ANXA2P2, GNAS, PLCE1, TRPM4, SLC1A5, UBAP2, UBAP2L, LYZ, CKAP4, YPEL1, HIST4H4, H3F3A, H3F3B, HIST2H2BE, DDX42, HNRNPD, SYNCRIP, DHX40, SF3A1, SF3B3, SF3B4, SERBP1, FANCM, RAD54B, PCNA, PHB, TP73, RPL18, RPL9, RPS9, TBPL1, TRIP4, DNAJC10, SAE1, DLD, GOT2, ATP5A1, GSTP1, HARS2, SLC25A3, KPNA2, RAB7A, SPATA6, UACA, STATH, ANXA5, MAP3K3, UBC, TUBB, CFL1, TUBA1A, ACTB, HNRNPF, HNRNPH1, DHX15, CPSF6, SF3A3, HNRNPK, PSPC1, HNRNPL, RPS5, RPS8, RPL12, RPN2, EEF2, EEF1G, HSP90AA1, CCT5, CCT6A, HSP90AB1, CCT2, CCT4, HSP90B1, CCT3, CCT7, CCT8, HSPA8, PPIL4, TCP1, PDIA3, PPIA, SSBP1, GLUD1, ATP5B, HSPA9, ERAL1, TUFM, HSPD1, PYCR1, MDH2, ABCF2, KPNB1, PRDX1, ERP44, F7, ALB, ARMC6, ADCK5, CCDC88A, GPR101, ITK, DGKA, SLC22A11, HERC6, TUBA1B, MTSS1L, CEP112, COL18A1, SEC13, NAP1L1, SNRPD2, NCAPG2, RBBP4, FLJ22447, LSM12, NUDT21, DDX1, C14orf166, DDX5, HIVEP3, NCOA6, RAVER1, TCEB1, TXNL4B, TTI2, GEN1, RPL14, RPS14, NPM1, RPL11, RPL4, EIF4A1, PCBP2, ST13, NSDHL, MTAP, MAT2A, AHCY, OAT, BCS1L, SLC25A5, TIMM50, MYH10, GOLIM4, CSE1L, RAN, KLHL40, KLHL5, IGKV1-5, C6, GIMAP8, CDC5L, CEP78, DBF4B, AMOT, FAM71F1, MFGE8, FAM98A, C11orf70, RTCB, UFL1, LRRIQ4, NUPR1, CUL7, OBSL1, EZH2, SUZ12, BMI1, ABL1, CHEK1, SIK2, SRPK1, DBR1, LUZP4, UPF2, UPF3A, FAM58A, YEATS4, RPS6KB2, HNRNPA1, HSP104, FBXW11, ACAT1, ARMC1, C2orf49, DDX17, DNAJC7, EIF4H, AURKA, PTBP1, TOMM34, TXLNA, UFD1L, HNRNPDL, MEF2D, NAA50, NPLOC4, PFKP, PICALM, TARS, NTRK1, SCARNA22, TCF7L2, KIF22, EMC2, MATR3, MCM2, SNW1, RC3H1, EGFR, TRAF6, CRBN, KCTD6, RPS27, PSRC1, SMCO3, CYLD, TRIM25, BRCA1, HDAC6, WDR77, PCBP1, PPIE, YAP1, EFTUD2, AAR2, PIH1D1, NKX2-1, CHD3, CHD4, TNF, HEXIM1, MEPCE, LARP7, RUNX1, PPT1, CTDSPL2, AGR2, RECQL4, CDK9, ARID1A, SMARCA4, SMARCD1, DDIT3, SMARCC2, SMARCC1, SS18, SMARCB1, FLI1, TP53BP1, MDC1, METTL3, METTL14, KIAA1429, RC3H2, ATG16L1, LINC00470, AKT1, ACTC1, RBX1, MYC, MAPT, HIV2gp4, HIV2gp3, NR2C2, UBQLN2, HDAC2, ZFYVE21, XRCC6, DYNLT1, HIST1H4A, SNRNP70, SNRPA, SRSF1, SNRPB, SNRPC, SNRPD1, SNRPD3, RNU1-1, FUS, TRIM28, HNRNPA2B1, HNRNPR, PPP1R10, ILF2, DHX9, PABPC1, DDX3X, SRSF7, HNRNPM, HNRNPUL1, PABPC4, SF3B1, LARP1, PBRM1, THRAP3, MOV10, FAM120A, SKIV2L2, TOX, POLR2A, ELAVL1, SF3B2, STRBP, WDR82, HNRNPCL1, CCNT1, RBM14, U2SURP, DDX20, HIST1H1C, NUMA1, CCBL2, ZFR, ACIN1, CDC73, DDX23, SLTM, SRRT, IGF2BP3, ZC3H18, PRRC2A, HNRNPUL2, THOC1, AKAP8, BCLAF1, SRSF3, CHERP, INTS12, PAF1, PNN, PPFIA1, RBM10, SNRNP200, TOE1, TRA2B, HNRNPC, HNRNPA0, PPP1CC, CCAR1, DDX21, HNRNPAB, INTS6, POLR2B, PRPF6, RALY, RBM25, RBM7, SAFB, THOC5, XRN2, EBNA1BP2, HSPA1A, RBM39, STRAP, TRA2A, YBX3, ZCCHC8, GPATCH8, SMN1, SRSF5, CTR9, EIF4A3, GNL3, HNRNPH3, HP1BP3, NCBP1, PRPF19, RBM17, RRP9, THOC2, ZC3HAV1, EXOSC10, GEMIN6, XAB2, HSPB1, PABPN1, CAPRIN1, CCAR2, GEMIN4, INTS4, KHDRBS1, PLRG1, PRMT5, SRSF6, ZNF326, ADAR, ARID2, GEMIN5, PHF10, PURB, SMU1, TOX4, AQR, ITFG1, ARAF, BIRC3, NFX1, VPS15, VPS34, VPS38, VPS8, PEP3, VPS21, CDC48, UBX3, BRE5, UBP3, SOX2, EP300, CMTR1, ARIH2, PLEKHA4, PINK1, PRMT8, FANCD2, MIRLET7A1, MIRLET7A2, MIRLET7A3, MIRLET7B, MIRLET7C, MIRLET7D, MIRLET7E, MIRLET7F1, MIRLET7F2, MIRLET7G, MIRLET7I, MIR98, MIR1-1, MIR1-2, MIR7-1, MIR7-2, MIR7-3, MIR9-1, MIR9-2, MIR9-3, MIR10B, MIR15A, MIR15B, MIR16-1, MIR16-2, MIR17, MIR18A, MIR18B, MIR19A, MIR19B1, MIR19B2, MIR20A, MIR20B, MIR21, MIR25, MIR29A, MIR29B1, MIR29B2, MIR29C, MIR31, MIR34A, MIR34B, MIR34C, MIR92A1, MIR92A2, MIR93, MIR106A, MIR106B, MIR107, MIR122, MIR128-1, MIR128-2, MIR138-1, MIR138-2, MIR140, MIR141, MIR143, MIR145, MIR155, MIR199A1, MIR199A2, MIR200A, MIR200B, MIR200C, MIR205, MIR206, MIR214, MIR221, MIR222, MIR363, MIR429, MIR451A, ADAMTS9-AS2, MDM2, OPTN, PRKD1, HVCN1, CELF1, FUBP3, DUX4, DUX4L9, CIT, CHMP4B, ECT2, KIF14, KIF20A, KIF23, PRC1, MKI67, BRD4, NINL, RBM45, UCHL1, Apc2, FBP1, LGALS9, WDR76, EIF3F, CREBBP, vpr, RNF4, OGT, CD274, SPOP, DDRGK1, TP53, DDX39B, HIST1H2BG, USP15, FZR1, WDR5, NUDCD2, CPSF1, NUP43, BTF3, BSG, S, RCHY1, NBR1, BACH2, PDE4B, SIRT6,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
FUSall structure
KCTD5


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to FUS-KCTD5


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to FUS-KCTD5


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFUSC1842675AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)5UNIPROT
HgeneFUSC3468114Juvenile amyotrophic lateral sclerosis5ORPHANET
HgeneFUSC0002736Amyotrophic Lateral Sclerosis2CTD_human;ORPHANET
HgeneFUSC0206634Liposarcoma, Myxoid2CTD_human;ORPHANET
HgeneFUSC0393554Amyotrophic Lateral Sclerosis With Dementia1CTD_human
HgeneFUSC0497327Dementia1GENOMICS_ENGLAND
HgeneFUSC0543859Amyotrophic Lateral Sclerosis, Guam Form1CTD_human
HgeneFUSC3539195TREMOR, HEREDITARY ESSENTIAL, 41CTD_human;UNIPROT
HgeneFUSC3888102Frontotemporal Dementia With Motor Neuron Disease1ORPHANET