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Center for Computational Systems Medicine
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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:DOCK1-NPS (FusionGDB2 ID:23735)

Fusion Gene Summary for DOCK1-NPS

check button Fusion gene summary
Fusion gene informationFusion gene name: DOCK1-NPS
Fusion gene ID: 23735
HgeneTgene
Gene symbol

DOCK1

NPS

Gene ID

1793

594857

Gene namededicator of cytokinesis 1neuropeptide S
SynonymsDOCK180|ced5-
Cytomap

10q26.2

10q26.2

Type of geneprotein-codingprotein-coding
Descriptiondedicator of cytokinesis protein 1180 kDa protein downstream of CRKDOwnstream of CrKneuropeptide Sprepro-neuropeptide S
Modification date2020032720200313
UniProtAcc.

Q6W5P4

Ensembl transtripts involved in fusion geneENST00000280333, ENST00000484400, 
ENST00000398023, 
Fusion gene scores* DoF score17 X 17 X 11=31791 X 3 X 2=6
# samples 203
** MAII scorelog2(20/3179*10)=-3.99050111136325
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/6*10)=2.32192809488736
Context

PubMed: DOCK1 [Title/Abstract] AND NPS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDOCK1(129142010)-NPS(129347753), # samples:2
DOCK1(128780237)-NPS(129350724), # samples:2
Anticipated loss of major functional domain due to fusion event.DOCK1-NPS seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
DOCK1-NPS 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

check buttonFusion gene breakpoints across DOCK1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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

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
ChimerDB4BRCATCGA-A8-A08O-01ADOCK1chr10

129142010

+NPSchr10

129347753

+
ChimerDB4OVTCGA-61-1724-01ADOCK1chr10

128780237

+NPSchr10

129350724

+
ChimerDB4OVTCGA-61-1724DOCK1chr10

128780237

+NPSchr10

129350723

+
ChimerDB4BRCATCGA-A8-A08O-01ADOCK1chr10

129142010

+NPSchr10

129347753

+
ChimerDB4OVTCGA-61-1724-01ADOCK1chr10

128780237

+NPSchr10

129350724

+


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Fusion Gene ORF analysis for DOCK1-NPS

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
In-frameENST00000280333ENST00000398023DOCK1chr10

129142010

+NPSchr10

129347753

+
3UTR-3CDSENST00000484400ENST00000398023DOCK1chr10

129142010

+NPSchr10

129347753

+
Frame-shiftENST00000280333ENST00000398023DOCK1chr10

128780237

+NPSchr10

129350724

+
intron-3CDSENST00000484400ENST00000398023DOCK1chr10

128780237

+NPSchr10

129350724

+
Frame-shiftENST00000280333ENST00000398023DOCK1chr10

128780237

+NPSchr10

129350723

+
intron-3CDSENST00000484400ENST00000398023DOCK1chr10

128780237

+NPSchr10

129350723

+

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)
ENST00000280333DOCK1chr10129142010+ENST00000398023NPSchr10129347753+356432702835311167

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
ENST00000280333ENST00000398023DOCK1chr10129142010+NPSchr10129347753+0.0009406730.9990594

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Fusion Genomic Features for DOCK1-NPS


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)
DOCK1chr10129142010+NPSchr10129347752+7.42E-050.99992585
DOCK1chr10128780237+NPSchr10129350723+1.36E-060.9999987
DOCK1chr10128780237+NPSchr10129350723+1.36E-060.9999987
DOCK1chr10129142010+NPSchr10129347752+7.42E-050.99992585
DOCK1chr10128780237+NPSchr10129350723+1.36E-060.9999987
DOCK1chr10128780237+NPSchr10129350723+1.36E-060.9999987

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for DOCK1-NPS


check button Go to

FGviewer for the breakpoints of chr10:129142010-chr10:129347753

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q6W5P4

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: G-protein coupled receptor for neuropeptide S (NPS) (PubMed:16790440). Promotes mobilization of intracellular Ca(2+) stores (PubMed:16790440). Inhibits cell growth in response to NPS binding (PubMed:15947423). Involved in pathogenesis of asthma and other IgE-mediated diseases. {ECO:0000269|PubMed:15312648, ECO:0000269|PubMed:15947423, ECO:0000269|PubMed:16790440}.

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
HgeneDOCK1chr10:129142010chr10:129347753ENST00000280333+3152425_6091053.66666666666671866.0DomainC2 DOCK-type
HgeneDOCK1chr10:129142010chr10:129347753ENST00000280333+31529_701053.66666666666671866.0DomainSH3

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDOCK1chr10:129142010chr10:129347753ENST00000280333+31521207_16171053.66666666666671866.0DomainDOCKER
HgeneDOCK1chr10:129142010chr10:129347753ENST00000280333+31521687_16951053.66666666666671866.0RegionPhosphoinositide-binding


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Fusion Gene Sequence for DOCK1-NPS


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.
>In-frame_ENST00000280333_ENST00000398023_TCGA-A8-A08O-01A_DOCK1_chr10_129142010_+_NPS_chr10_129347753_length(transcript)=3564nt_BP=3270nt
CTCCGCCGCAAACTTTTTCCTCCCCATCCTGTCGCGGCTCGAAAGGAATGGAAAATGGCGGCCTAGACGCGGAGTTTCCTGCCCGACCCG
CGGCGGCTCCGGCGGCGCCATGACGCGCTGGGTGCCCACCAAGCGCGAGGAGAAGTACGGCGTGGCTTTTTATAACTATGATGCCAGAGG
AGCGGATGAACTTTCTTTACAGATCGGAGACACTGTGCACATCTTAGAAACATATGAAGGGTGGTACCGAGGTTACACGTTACGAAAAAA
GTCTAAGAAGGGTATATTTCCTGCTTCATATATTCATCTTAAAGAAGCGATAGTTGAAGGAAAAGGGCAACATGAAACAGTCATCCCGGG
TGACCTCCCCCTCATCCAGGAAGTCACCACGACACTCCGAGAGTGGTCCACCATCTGGAGGCAGCTCTACGTGCAAGATAACAGGGAGAT
GTTTCGAAGTGTGCGGCACATGATCTATGACCTTATTGAATGGCGATCACAAATTCTTTCTGGAACTCTGCCTCAGGATGAACTCAAAGA
ACTGAAGAAGAAGGTCACAGCCAAAATTGATTATGGAAACAGAATTCTAGATTTGGACCTGGTGGTTAGAGATGAAGATGGGAATATTTT
GGATCCAGAATTAACTAGCACGATTAGTCTCTTCAGAGCTCATGAAATAGCTTCTAAACAAGTGGAGGAAAGGTTACAAGAGGAAAAATC
TCAAAAGCAGAACATAGATATTAACAGACAAGCCAAGTTTGCTGCAACCCCTTCTCTGGCCTTGTTTGTGAACCTCAAAAATGTGGTTTG
TAAAATAGGAGAAGATGCTGAAGTCCTCATGTCTCTATATGACCCTGTGGAGTCCAAATTCATCAGTGAGAACTACCTGGTTCGCTGGTC
CAGTTCAGGATTACCTAAAGACATAGACAGATTACATAATTTGCGAGCCGTGTTTACTGACCTCGGAAGCAAAGACCTGAAAAGGGAGAA
AATCAGTTTTGTCTGTCAGATTGTTCGCGTGGGTCGCATGGAGCTGAGGGACAACAACACCAGGAAACTGACCTCGGGGTTGCGGCGACC
TTTTGGAGTGGCTGTGATGGATGTAACAGATATAATAAATGGAAAAGTAGATGATGAAGATAAGCAGCATTTCATTCCCTTTCAGCCGGT
GGCAGGGGAGAATGACTTCCTTCAGACTGTTATAAACAAAGTCATCGCTGCCAAAGAAGTCAACCACAAGGGGCAGGGTTTGTGGGTAAC
ATTGAAATTACTTCCTGGAGATATCCATCAGATCCGAAAAGAGTTTCCGCATTTAGTGGACAGGACCACAGCTGTGGCTCGAAAAACAGG
GTTTCCGGAGATAATCATGCCTGGTGATGTTCGAAATGATATCTATGTAACATTAGTTCAAGGAGATTTTGATAAAGGAAGCAAAACAAC
AGCGAAGAACGTGGAGGTCACGGTGTCTGTGTACGATGAGGATGGGAAACGATTAGAGCATGTGATTTTCCCGGGTGCTGGTGATGAAGC
GATTTCAGAGTACAAATCTGTGATTTACTACCAAGTAAAGCAGCCACGCTGGTTTGAGACTGTTAAGGTGGCCATTCCCATCGAGGACGT
TAACCGCAGTCACCTTCGGTTTACCTTCCGCCACAGGTCATCACAGGACTCTAAGGATAAATCTGAGAAAATATTTGCACTAGCATTTGT
CAAGCTGATGAGATACGATGGTACCACCCTGCGAGACGGAGAGCACGATCTTATCGTCTATAAGGCCGAAGCAAAGAAGCTGGAAGATGC
TGCCACGTACTTGAGTCTGCCCTCCACGAAGGCAGAGTTGGAAGAAAAGGGCCACTCGGCCACCGGCAAGAGCATGCAGAGCCTTGGGAG
CTGCACCATTAGCAAGGACTCCTTCCAGATCTCCACGCTCGTGTGCTCCACCAAACTGACTCAGAACGTGGACCTTCTGGGGCTCTTGAA
ATGGCGCTCCAACACCAGCCTGCTGCAGCAGAACTTGAGGCAGCTGATGAAAGTCGATGGTGGTGAAGTAGTGAAGTTTCTTCAGGACAC
GTTGGATGCCCTCTTCAACATCATGATGGAGAACTCAGAGAGTGAGACTTTTGACACGTTAGTCTTTGATGCTCTGGTATTTATCATTGG
ACTGATTGCTGATAGAAAATTTCAGCATTTTAATCCTGTTTTGGAAACTTACATTAAGAAACACTTTAGTGCAACGTTAGCCTACACGAA
GTTGACAAAAGTGTTGAAGAACTACGTGGACGGTGCTGAGAAGCCGGGAGTAAATGAGCAGCTGTACAAAGCCATGAAAGCGCTAGAATC
CATCTTCAAGTTCATCGTGCGCTCCAGGATCCTGTTCAATCAACTGTATGAAAACAAGGGAGAGGCTGACTTCGTGGAATCTTTGCTGCA
GCTCTTCAGGTCCATCAATGACATGATGAGCAGCATGTCAGACCAGACCGTCCGGGTGAAGGGGGCAGCACTGAAATACTTACCAACGAT
CGTCAACGATGTGAAATTGGTGTTTGATCCCAAAGAGCTCAGCAAAATGTTTACTGAATTCATCCTCAATGTTCCCATGGGCTTGCTGAC
CATCCAGAAACTCTACTGCTTGATCGAAATCGTCCACAGTGACCTCTTCACACAGCATGACTGCAGAGAGATCCTGCTTCCCATGATGAC
CGATCAGCTCAAGTACCATCTGGAGAGACAGGAGGACCTGGAGGCCTGCTGTCAGCTGCTCAGCCACATCCTGGAGGTGCTGTACAGGAA
GGACGTGGGGCCAACCCAGAGGCACGTCCAGATTATCATGGAGAAACTTCTCCGGACCGTGAACCGAACCGTCATTTCCATGGGACGAGA
TTCTGAACTCATTGGAAACTTCGTGGCTTGCATGACAGCTATTTTACGACAAATGGAAGATTACCATTATGCCCACTTGATCAAGACTTT
TGGGAAAATGAGGACTGATGTGGTAGATTTCCTAATGGAAACATTCATCATGTTTAAGAACCTCATTGGAAAGAACGTTTACCCCTTCGA
CTGGGTGATCATGAACATGGTGCAAAATAAAGTCTTCCTGCGAGCAATTAATCAGTATGCAGATATGCTGAACAAAAAATTTCTGGATCA
AGCCAACTTTGAGCTACAGCTGTGGAACAACTACTTTCACCTGGCTGTTGCTTTCCTTACTCAAGAGTCCCTGCAACTGGAGAATTTTTC
AAGTGCCAAGAGAGCCAAAATCCTTAACAACTCAGTAAAACTCAATCTCATCCTAGTTCTGTCGCTGTCCACAATGCATGTGTTTTGGTG
TTATCCAGTTCCATCTTCTAAGGTGTCTGGAAAATCTGATTACTTTCTCATTCTGCTGAACAGCTGCCCAACCAGATTGGACAGGAGCAA
AGAACTAGCTTTTCTAAAGCCAATTTTGGAGAAGATGTTTGTGAAAAGGTCCTTTCGCAATGGAGTTGGCACAGGGATGAAAAAAACTTC

>In-frame_ENST00000280333_ENST00000398023_TCGA-A8-A08O-01A_DOCK1_chr10_129142010_+_NPS_chr10_129347753_length(amino acids)=1167AA_start in transcript=28_stop in transcript=3531
MSRLERNGKWRPRRGVSCPTRGGSGGAMTRWVPTKREEKYGVAFYNYDARGADELSLQIGDTVHILETYEGWYRGYTLRKKSKKGIFPAS
YIHLKEAIVEGKGQHETVIPGDLPLIQEVTTTLREWSTIWRQLYVQDNREMFRSVRHMIYDLIEWRSQILSGTLPQDELKELKKKVTAKI
DYGNRILDLDLVVRDEDGNILDPELTSTISLFRAHEIASKQVEERLQEEKSQKQNIDINRQAKFAATPSLALFVNLKNVVCKIGEDAEVL
MSLYDPVESKFISENYLVRWSSSGLPKDIDRLHNLRAVFTDLGSKDLKREKISFVCQIVRVGRMELRDNNTRKLTSGLRRPFGVAVMDVT
DIINGKVDDEDKQHFIPFQPVAGENDFLQTVINKVIAAKEVNHKGQGLWVTLKLLPGDIHQIRKEFPHLVDRTTAVARKTGFPEIIMPGD
VRNDIYVTLVQGDFDKGSKTTAKNVEVTVSVYDEDGKRLEHVIFPGAGDEAISEYKSVIYYQVKQPRWFETVKVAIPIEDVNRSHLRFTF
RHRSSQDSKDKSEKIFALAFVKLMRYDGTTLRDGEHDLIVYKAEAKKLEDAATYLSLPSTKAELEEKGHSATGKSMQSLGSCTISKDSFQ
ISTLVCSTKLTQNVDLLGLLKWRSNTSLLQQNLRQLMKVDGGEVVKFLQDTLDALFNIMMENSESETFDTLVFDALVFIIGLIADRKFQH
FNPVLETYIKKHFSATLAYTKLTKVLKNYVDGAEKPGVNEQLYKAMKALESIFKFIVRSRILFNQLYENKGEADFVESLLQLFRSINDMM
SSMSDQTVRVKGAALKYLPTIVNDVKLVFDPKELSKMFTEFILNVPMGLLTIQKLYCLIEIVHSDLFTQHDCREILLPMMTDQLKYHLER
QEDLEACCQLLSHILEVLYRKDVGPTQRHVQIIMEKLLRTVNRTVISMGRDSELIGNFVACMTAILRQMEDYHYAHLIKTFGKMRTDVVD
FLMETFIMFKNLIGKNVYPFDWVIMNMVQNKVFLRAINQYADMLNKKFLDQANFELQLWNNYFHLAVAFLTQESLQLENFSSAKRAKILN

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Fusion Gene PPI Analysis for DOCK1-NPS


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
HgeneDOCK1chr10:129142010chr10:129347753ENST00000280333+31521837_18521053.66666666666671866.0NCK2 (minor)
HgeneDOCK1chr10:129142010chr10:129347753ENST00000280333+31521793_18191053.66666666666671866.0NCK2 second and third SH3 domain (minor)
HgeneDOCK1chr10:129142010chr10:129347753ENST00000280333+31521820_18361053.66666666666671866.0NCK2 third SH3 domain (major)


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 DOCK1-NPS


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneNPSQ6W5P4DB01159HalothaneOther/unknownSmall moleculeApproved|Vet_approved
TgeneNPSQ6W5P4DB01159HalothaneOther/unknownSmall moleculeApproved|Vet_approved
TgeneNPSQ6W5P4DB01159HalothaneOther/unknownSmall moleculeApproved|Vet_approved
TgeneNPSQ6W5P4DB01159HalothaneOther/unknownSmall moleculeApproved|Vet_approved

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Related Diseases for DOCK1-NPS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDOCK1C0013146Drug abuse1CTD_human
HgeneDOCK1C0013170Drug habituation1CTD_human
HgeneDOCK1C0013222Drug Use Disorders1CTD_human
HgeneDOCK1C0029231Organic Mental Disorders, Substance-Induced1CTD_human
HgeneDOCK1C0038580Substance Dependence1CTD_human
HgeneDOCK1C0038586Substance Use Disorders1CTD_human
HgeneDOCK1C0236969Substance-Related Disorders1CTD_human
HgeneDOCK1C0740858Substance abuse problem1CTD_human
HgeneDOCK1C1510472Drug Dependence1CTD_human
HgeneDOCK1C4316881Prescription Drug Abuse1CTD_human
TgeneNPSC0009171Cocaine Abuse3CTD_human
TgeneNPSC0236736Cocaine-Related Disorders3CTD_human
TgeneNPSC0600427Cocaine Dependence3CTD_human
TgeneNPSC0003469Anxiety Disorders2CTD_human
TgeneNPSC0376280Anxiety States, Neurotic2CTD_human
TgeneNPSC1279420Anxiety neurosis (finding)2CTD_human
TgeneNPSC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneNPSC0011570Mental Depression1PSYGENET
TgeneNPSC0011581Depressive disorder1PSYGENET
TgeneNPSC0036341Schizophrenia1PSYGENET
TgeneNPSC0751217Hyperkinesia, Generalized1CTD_human
TgeneNPSC3887506Hyperkinesia1CTD_human