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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:ARNTL-DYNLRB1 (FusionGDB2 ID:6844) |
Fusion Gene Summary for ARNTL-DYNLRB1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: ARNTL-DYNLRB1 | Fusion gene ID: 6844 | Hgene | Tgene | Gene symbol | ARNTL | DYNLRB1 | Gene ID | 406 | 83658 |
Gene name | aryl hydrocarbon receptor nuclear translocator like | dynein light chain roadblock-type 1 | |
Synonyms | BMAL1|BMAL1c|JAP3|MOP3|PASD3|TIC|bHLHe5 | BITH|BLP|DNCL2A|DNLC2A|ROBLD1 | |
Cytomap | 11p15.3 | 20q11.22 | |
Type of gene | protein-coding | protein-coding | |
Description | aryl hydrocarbon receptor nuclear translocator-like protein 1ARNT-like protein 1, brain and musclePAS domain containing 3PAS domain-containing protein 3bHLH-PAS protein JAP3basic helix-loop-helix family member e5basic-helix-loop-helix-PAS orphan MOP | dynein light chain roadblock-type 1ROBL/LC7-like 1bithoraxoid-like proteindynein, cytoplasmic, light polypeptide 2Adynein-associated protein Km23roadblock domain-containing protein 1 | |
Modification date | 20200322 | 20200320 | |
UniProtAcc | O00327 | Q9NP97 | |
Ensembl transtripts involved in fusion gene | ENST00000396441, ENST00000389707, ENST00000401424, ENST00000389708, ENST00000361003, ENST00000403290, ENST00000403510, ENST00000403482, ENST00000497429, | ENST00000357156, ENST00000480759, ENST00000417166, ENST00000300469, ENST00000374846, | |
Fusion gene scores | * DoF score | 7 X 8 X 7=392 | 17 X 12 X 12=2448 |
# samples | 10 | 23 | |
** MAII score | log2(10/392*10)=-1.97085365434048 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(23/2448*10)=-3.41189779174828 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ARNTL [Title/Abstract] AND DYNLRB1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ARNTL(13331606)-DYNLRB1(33114073), # 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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ARNTL | GO:0032922 | circadian regulation of gene expression | 24005054 |
Hgene | ARNTL | GO:0045893 | positive regulation of transcription, DNA-templated | 11441146|12738229|23785138 |
Hgene | ARNTL | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20093779 |
Hgene | ARNTL | GO:0051775 | response to redox state | 11441146 |
Fusion gene breakpoints across ARNTL (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene breakpoints across DYNLRB1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | STAD | TCGA-BR-A4PD-01A | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
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Fusion Gene ORF analysis for ARNTL-DYNLRB1 |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-3CDS | ENST00000396441 | ENST00000357156 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000396441 | ENST00000480759 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000396441 | ENST00000417166 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000396441 | ENST00000300469 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000396441 | ENST00000374846 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3CDS | ENST00000389707 | ENST00000357156 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000389707 | ENST00000480759 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000389707 | ENST00000417166 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000389707 | ENST00000300469 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000389707 | ENST00000374846 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3CDS | ENST00000401424 | ENST00000357156 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000401424 | ENST00000480759 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000401424 | ENST00000417166 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000401424 | ENST00000300469 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000401424 | ENST00000374846 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3CDS | ENST00000389708 | ENST00000357156 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000389708 | ENST00000480759 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000389708 | ENST00000417166 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000389708 | ENST00000300469 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000389708 | ENST00000374846 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3CDS | ENST00000361003 | ENST00000357156 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000361003 | ENST00000480759 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000361003 | ENST00000417166 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000361003 | ENST00000300469 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000361003 | ENST00000374846 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3CDS | ENST00000403290 | ENST00000357156 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000403290 | ENST00000480759 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000403290 | ENST00000417166 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000403290 | ENST00000300469 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000403290 | ENST00000374846 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3CDS | ENST00000403510 | ENST00000357156 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000403510 | ENST00000480759 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000403510 | ENST00000417166 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000403510 | ENST00000300469 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
5UTR-3UTR | ENST00000403510 | ENST00000374846 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
intron-3CDS | ENST00000403482 | ENST00000357156 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
intron-3UTR | ENST00000403482 | ENST00000480759 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
intron-3UTR | ENST00000403482 | ENST00000417166 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
intron-3UTR | ENST00000403482 | ENST00000300469 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
intron-3UTR | ENST00000403482 | ENST00000374846 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
intron-3CDS | ENST00000497429 | ENST00000357156 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
intron-3UTR | ENST00000497429 | ENST00000480759 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
intron-3UTR | ENST00000497429 | ENST00000417166 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
intron-3UTR | ENST00000497429 | ENST00000300469 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
intron-3UTR | ENST00000497429 | ENST00000374846 | ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114073 | + |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
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) |
DeepORF 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. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ARNTL-DYNLRB1 |
FusionAI 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. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114072 | + | 0.000265722 | 0.9997342 |
ARNTL | chr11 | 13331606 | + | DYNLRB1 | chr20 | 33114072 | + | 0.000265722 | 0.9997342 |
Distribution 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. |
Distribution 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 ARNTL-DYNLRB1 |
Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ARNTL | DYNLRB1 |
FUNCTION: Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. ARNTL/BMAL1 positively regulates myogenesis and negatively regulates adipogenesis via the transcriptional control of the genes of the canonical Wnt signaling pathway. Plays a role in normal pancreatic beta-cell function; regulates glucose-stimulated insulin secretion via the regulation of antioxidant genes NFE2L2/NRF2 and its targets SESN2, PRDX3, CCLC and CCLM. Negatively regulates the mTORC1 signaling pathway; regulates the expression of MTOR and DEPTOR. Controls diurnal oscillations of Ly6C inflammatory monocytes; rhythmic recruitment of the PRC2 complex imparts diurnal variation to chemokine expression that is necessary to sustain Ly6C monocyte rhythms. Regulates the expression of HSD3B2, STAR, PTGS2, CYP11A1, CYP19A1 and LHCGR in the ovary and also the genes involved in hair growth. Plays an important role in adult hippocampal neurogenesis by regulating the timely entry of neural stem/progenitor cells (NSPCs) into the cell cycle and the number of cell divisions that take place prior to cell-cycle exit. Regulates the circadian expression of CIART and KLF11. The CLOCK-ARNTL/BMAL1 heterodimer regulates the circadian expression of SERPINE1/PAI1, VWF, B3, CCRN4L/NOC, NAMPT, DBP, MYOD1, PPARGC1A, PPARGC1B, SIRT1, GYS2, F7, NGFR, GNRHR, BHLHE40/DEC1, ATF4, MTA1, KLF10 and also genes implicated in glucose and lipid metabolism. Promotes rhythmic chromatin opening, regulating the DNA accessibility of other transcription factors. The NPAS2-ARNTL/BMAL1 heterodimer positively regulates the expression of MAOA, F7 and LDHA and modulates the circadian rhythm of daytime contrast sensitivity by regulating the rhythmic expression of adenylate cyclase type 1 (ADCY1) in the retina. The preferred binding motif for the CLOCK-ARNTL/BMAL1 heterodimer is 5'-CACGTGA-3', which contains a flanking Ala residue in addition to the canonical 6-nucleotide E-box sequence (PubMed:23229515). CLOCK specifically binds to the half-site 5'-CAC-3', while ARNTL binds to the half-site 5'-GTGA-3' (PubMed:23229515). The CLOCK-ARNTL/BMAL1 heterodimer also recognizes the non-canonical E-box motifs 5'-AACGTGA-3' and 5'-CATGTGA-3' (PubMed:23229515). Essential for the rhythmic interaction of CLOCK with ASS1 and plays a critical role in positively regulating CLOCK-mediated acetylation of ASS1 (PubMed:28985504). Plays a role in protecting against lethal sepsis by limiting the expression of immune checkpoint protein CD274 in macrophages in a PKM2-dependent manner (By similarity). Regulates the diurnal rhythms of skeletal muscle metabolism via transcriptional activation of genes promoting triglyceride synthesis (DGAT2) and metabolic efficiency (COQ10B) (By similarity). {ECO:0000250|UniProtKB:Q9WTL8, ECO:0000269|PubMed:11441146, ECO:0000269|PubMed:12738229, ECO:0000269|PubMed:18587630, ECO:0000269|PubMed:23785138, ECO:0000269|PubMed:23955654, ECO:0000269|PubMed:24005054, ECO:0000269|PubMed:28985504}. | FUNCTION: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. |
Retention 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 * 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 ARNTL-DYNLRB1 |
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 ARNTL-DYNLRB1 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ARNTL-DYNLRB1 |
Drugs targeting genes involved in this fusion gene. (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 ARNTL-DYNLRB1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ARNTL | C0005586 | Bipolar Disorder | 5 | PSYGENET |
Hgene | ARNTL | C0011570 | Mental Depression | 3 | PSYGENET |
Hgene | ARNTL | C0011581 | Depressive disorder | 3 | PSYGENET |
Hgene | ARNTL | C0525045 | Mood Disorders | 2 | PSYGENET |
Hgene | ARNTL | C0000772 | Multiple congenital anomalies | 1 | CTD_human |
Hgene | ARNTL | C0021361 | Female infertility | 1 | CTD_human |
Hgene | ARNTL | C0023473 | Myeloid Leukemia, Chronic | 1 | CTD_human |
Hgene | ARNTL | C0038279 | Sterility, Postpartum | 1 | CTD_human |
Hgene | ARNTL | C0085159 | Seasonal Affective Disorder | 1 | PSYGENET |
Hgene | ARNTL | C0151744 | Myocardial Ischemia | 1 | CTD_human |
Hgene | ARNTL | C0268548 | Hyperargininemia | 1 | CTD_human |
Hgene | ARNTL | C0341869 | Subfertility, Female | 1 | CTD_human |
Hgene | ARNTL | C0917730 | Female sterility | 1 | CTD_human |