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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:PSEN1-STK4 (FusionGDB2 ID:69033) |
Fusion Gene Summary for PSEN1-STK4 |
Fusion gene summary |
Fusion gene information | Fusion gene name: PSEN1-STK4 | Fusion gene ID: 69033 | Hgene | Tgene | Gene symbol | PSEN1 | STK4 | Gene ID | 5663 | 6789 |
Gene name | presenilin 1 | serine/threonine kinase 4 | |
Synonyms | ACNINV3|AD3|FAD|PS-1|PS1|S182 | KRS2|MST1|YSK3 | |
Cytomap | 14q24.2 | 20q13.12 | |
Type of gene | protein-coding | protein-coding | |
Description | presenilin-1presenilin-1 isoform I-467 | serine/threonine-protein kinase 4STE20-like kinase MST1kinase responsive to stress 2mammalian STE20-like protein kinase 1mammalian sterile 20-like 1serine/threonine-protein kinase Krs-2 | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | . | Q13043 | |
Ensembl transtripts involved in fusion gene | ENST00000357710, ENST00000324501, ENST00000344094, ENST00000261970, ENST00000394164, ENST00000557511, ENST00000406768, ENST00000394157, ENST00000553447, | ENST00000372806, ENST00000396731, ENST00000372801, ENST00000499879, ENST00000487587, | |
Fusion gene scores | * DoF score | 7 X 6 X 6=252 | 13 X 13 X 7=1183 |
# samples | 7 | 16 | |
** MAII score | log2(7/252*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/1183*10)=-2.88630626345243 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: PSEN1 [Title/Abstract] AND STK4 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | PSEN1(73664837)-STK4(43703659), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | PSEN1-STK4 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. PSEN1-STK4 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF. PSEN1-STK4 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. PSEN1-STK4 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) |
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 | PSEN1 | GO:0006509 | membrane protein ectodomain proteolysis | 15274632 |
Hgene | PSEN1 | GO:0016485 | protein processing | 15274632 |
Hgene | PSEN1 | GO:0032469 | endoplasmic reticulum calcium ion homeostasis | 17431506 |
Hgene | PSEN1 | GO:0042325 | regulation of phosphorylation | 9689133 |
Hgene | PSEN1 | GO:0042982 | amyloid precursor protein metabolic process | 26280335 |
Hgene | PSEN1 | GO:0043066 | negative regulation of apoptotic process | 10805794 |
Hgene | PSEN1 | GO:0043085 | positive regulation of catalytic activity | 15274632 |
Tgene | STK4 | GO:0000902 | cell morphogenesis | 11805089 |
Tgene | STK4 | GO:0001934 | positive regulation of protein phosphorylation | 19962960 |
Tgene | STK4 | GO:0006468 | protein phosphorylation | 8566796|11805089 |
Tgene | STK4 | GO:0006915 | apoptotic process | 21212262 |
Tgene | STK4 | GO:0018105 | peptidyl-serine phosphorylation | 16751106 |
Tgene | STK4 | GO:0032092 | positive regulation of protein binding | 22292086 |
Tgene | STK4 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 19962960 |
Tgene | STK4 | GO:0035329 | hippo signaling | 20412773 |
Tgene | STK4 | GO:0035556 | intracellular signal transduction | 8566796 |
Tgene | STK4 | GO:0043065 | positive regulation of apoptotic process | 15109305 |
Tgene | STK4 | GO:0046777 | protein autophosphorylation | 11805089 |
Tgene | STK4 | GO:0050821 | protein stabilization | 19962960 |
Fusion gene breakpoints across PSEN1 (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 STK4 (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 | SKCM | TCGA-EE-A2MC-06A | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
ChimerDB4 | SKCM | TCGA-EE-A2MC-06A | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
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Fusion Gene ORF analysis for PSEN1-STK4 |
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 |
Frame-shift | ENST00000357710 | ENST00000372806 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-intron | ENST00000357710 | ENST00000396731 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-3UTR | ENST00000357710 | ENST00000372801 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-3UTR | ENST00000357710 | ENST00000499879 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-intron | ENST00000357710 | ENST00000487587 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
Frame-shift | ENST00000324501 | ENST00000372806 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-intron | ENST00000324501 | ENST00000396731 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-3UTR | ENST00000324501 | ENST00000372801 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-3UTR | ENST00000324501 | ENST00000499879 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-intron | ENST00000324501 | ENST00000487587 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
Frame-shift | ENST00000344094 | ENST00000372806 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-intron | ENST00000344094 | ENST00000396731 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-3UTR | ENST00000344094 | ENST00000372801 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-3UTR | ENST00000344094 | ENST00000499879 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-intron | ENST00000344094 | ENST00000487587 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
Frame-shift | ENST00000261970 | ENST00000372806 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-intron | ENST00000261970 | ENST00000396731 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-3UTR | ENST00000261970 | ENST00000372801 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-3UTR | ENST00000261970 | ENST00000499879 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-intron | ENST00000261970 | ENST00000487587 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
Frame-shift | ENST00000394164 | ENST00000372806 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-intron | ENST00000394164 | ENST00000396731 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-3UTR | ENST00000394164 | ENST00000372801 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-3UTR | ENST00000394164 | ENST00000499879 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-intron | ENST00000394164 | ENST00000487587 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
Frame-shift | ENST00000557511 | ENST00000372806 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-intron | ENST00000557511 | ENST00000396731 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-3UTR | ENST00000557511 | ENST00000372801 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-3UTR | ENST00000557511 | ENST00000499879 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-intron | ENST00000557511 | ENST00000487587 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
Frame-shift | ENST00000406768 | ENST00000372806 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-intron | ENST00000406768 | ENST00000396731 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-3UTR | ENST00000406768 | ENST00000372801 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-3UTR | ENST00000406768 | ENST00000499879 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
5CDS-intron | ENST00000406768 | ENST00000487587 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
intron-3CDS | ENST00000394157 | ENST00000372806 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
intron-intron | ENST00000394157 | ENST00000396731 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
intron-3UTR | ENST00000394157 | ENST00000372801 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
intron-3UTR | ENST00000394157 | ENST00000499879 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
intron-intron | ENST00000394157 | ENST00000487587 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
intron-3CDS | ENST00000553447 | ENST00000372806 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
intron-intron | ENST00000553447 | ENST00000396731 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
intron-3UTR | ENST00000553447 | ENST00000372801 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
intron-3UTR | ENST00000553447 | ENST00000499879 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
intron-intron | ENST00000553447 | ENST00000487587 | PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703659 | + |
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 PSEN1-STK4 |
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) |
PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703658 | + | 7.09E-14 | 1 |
PSEN1 | chr14 | 73664837 | + | STK4 | chr20 | 43703658 | + | 7.09E-14 | 1 |
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 PSEN1-STK4 |
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 |
. | STK4 |
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: Stress-activated, pro-apoptotic kinase which, following caspase-cleavage, enters the nucleus and induces chromatin condensation followed by internucleosomal DNA fragmentation. Key component of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. STK3/MST2 and STK4/MST1 are required to repress proliferation of mature hepatocytes, to prevent activation of facultative adult liver stem cells (oval cells), and to inhibit tumor formation (By similarity). Phosphorylates 'Ser-14' of histone H2B (H2BS14ph) during apoptosis. Phosphorylates FOXO3 upon oxidative stress, which results in its nuclear translocation and cell death initiation. Phosphorylates MOBKL1A, MOBKL1B and RASSF2. Phosphorylates TNNI3 (cardiac Tn-I) and alters its binding affinity to TNNC1 (cardiac Tn-C) and TNNT2 (cardiac Tn-T). Phosphorylates FOXO1 on 'Ser-212' and regulates its activation and stimulates transcription of PMAIP1 in a FOXO1-dependent manner. Phosphorylates SIRT1 and inhibits SIRT1-mediated p53/TP53 deacetylation, thereby promoting p53/TP53 dependent transcription and apoptosis upon DNA damage. Acts as an inhibitor of PKB/AKT1. Phosphorylates AR on 'Ser-650' and suppresses its activity by intersecting with PKB/AKT1 signaling and antagonizing formation of AR-chromatin complexes. {ECO:0000250|UniProtKB:Q9JI11, ECO:0000269|PubMed:11278283, ECO:0000269|PubMed:11517310, ECO:0000269|PubMed:12757711, ECO:0000269|PubMed:15109305, ECO:0000269|PubMed:16510573, ECO:0000269|PubMed:16751106, ECO:0000269|PubMed:16930133, ECO:0000269|PubMed:17932490, ECO:0000269|PubMed:18328708, ECO:0000269|PubMed:18986304, ECO:0000269|PubMed:19525978, ECO:0000269|PubMed:21212262, ECO:0000269|PubMed:21245099, ECO:0000269|PubMed:21512132, ECO:0000269|PubMed:8702870, ECO:0000269|PubMed:8816758}. |
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 PSEN1-STK4 |
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 PSEN1-STK4 |
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 PSEN1-STK4 |
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 PSEN1-STK4 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PSEN1 | C1843013 | Alzheimer disease, familial, type 3 | 84 | GENOMICS_ENGLAND;UNIPROT |
Hgene | PSEN1 | C0002395 | Alzheimer's Disease | 13 | CTD_human |
Hgene | PSEN1 | C0011265 | Presenile dementia | 13 | CTD_human |
Hgene | PSEN1 | C0276496 | Familial Alzheimer Disease (FAD) | 13 | CTD_human |
Hgene | PSEN1 | C0494463 | Alzheimer Disease, Late Onset | 13 | CTD_human |
Hgene | PSEN1 | C0546126 | Acute Confusional Senile Dementia | 13 | CTD_human |
Hgene | PSEN1 | C0750900 | Alzheimer's Disease, Focal Onset | 13 | CTD_human |
Hgene | PSEN1 | C0750901 | Alzheimer Disease, Early Onset | 13 | CTD_human |
Hgene | PSEN1 | C0236642 | Pick Disease of the Brain | 6 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | PSEN1 | C0011570 | Mental Depression | 5 | PSYGENET |
Hgene | PSEN1 | C0011581 | Depressive disorder | 5 | PSYGENET |
Hgene | PSEN1 | C0338451 | Frontotemporal dementia | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | PSEN1 | C3160720 | Cardiomyopathy, Dilated, 1u | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | PSEN1 | C3151038 | ACNE INVERSA, FAMILIAL, 3 | 3 | GENOMICS_ENGLAND |
Hgene | PSEN1 | C0013421 | Dystonia | 2 | GENOMICS_ENGLAND |
Hgene | PSEN1 | C0025261 | Memory Disorders | 2 | CTD_human |
Hgene | PSEN1 | C0233794 | Memory impairment | 2 | CTD_human |
Hgene | PSEN1 | C0751292 | Age-Related Memory Disorders | 2 | CTD_human |
Hgene | PSEN1 | C0751293 | Memory Disorder, Semantic | 2 | CTD_human |
Hgene | PSEN1 | C0751294 | Memory Disorder, Spatial | 2 | CTD_human |
Hgene | PSEN1 | C0751295 | Memory Loss | 2 | CTD_human |
Hgene | PSEN1 | C0002726 | Amyloidosis | 1 | CTD_human |
Hgene | PSEN1 | C0004045 | Asphyxia Neonatorum | 1 | CTD_human |
Hgene | PSEN1 | C0007193 | Cardiomyopathy, Dilated | 1 | CTD_human |
Hgene | PSEN1 | C0009241 | Cognition Disorders | 1 | CTD_human |
Hgene | PSEN1 | C0023186 | Learning Disorders | 1 | CTD_human |
Hgene | PSEN1 | C0027746 | Nerve Degeneration | 1 | CTD_human |
Hgene | PSEN1 | C0033141 | Cardiomyopathies, Primary | 1 | CTD_human |
Hgene | PSEN1 | C0036529 | Myocardial Diseases, Secondary | 1 | CTD_human |
Hgene | PSEN1 | C0038002 | Splenomegaly | 1 | CTD_human |
Hgene | PSEN1 | C0270715 | Degenerative Diseases, Central Nervous System | 1 | CTD_human |
Hgene | PSEN1 | C0338462 | Semantic Dementia | 1 | CTD_human;ORPHANET |
Hgene | PSEN1 | C0340427 | Familial dilated cardiomyopathy | 1 | ORPHANET |
Hgene | PSEN1 | C0524851 | Neurodegenerative Disorders | 1 | CTD_human |
Hgene | PSEN1 | C0751262 | Adult Learning Disorders | 1 | CTD_human |
Hgene | PSEN1 | C0751263 | Learning Disturbance | 1 | CTD_human |
Hgene | PSEN1 | C0751265 | Learning Disabilities | 1 | CTD_human |
Hgene | PSEN1 | C0751706 | Primary Progressive Nonfluent Aphasia | 1 | ORPHANET |
Hgene | PSEN1 | C0751733 | Degenerative Diseases, Spinal Cord | 1 | CTD_human |
Hgene | PSEN1 | C0878544 | Cardiomyopathies | 1 | CTD_human |
Hgene | PSEN1 | C1330966 | Developmental Academic Disorder | 1 | CTD_human |
Hgene | PSEN1 | C1449563 | Cardiomyopathy, Familial Idiopathic | 1 | CTD_human |
Hgene | PSEN1 | C1840560 | Hidradenitis suppurativa, familial | 1 | CTD_human |
Hgene | PSEN1 | C4011788 | Behavioral variant of frontotemporal dementia | 1 | ORPHANET |
Tgene | STK4 | C3553943 | T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | STK4 | C4016913 | T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AUTOIMMUNITY, AND CARDIAC MALFORMATIONS | 2 | GENOMICS_ENGLAND |
Tgene | STK4 | C0005586 | Bipolar Disorder | 1 | CTD_human |
Tgene | STK4 | C0005587 | Depression, Bipolar | 1 | CTD_human |
Tgene | STK4 | C0024713 | Manic Disorder | 1 | CTD_human |
Tgene | STK4 | C0338831 | Manic | 1 | CTD_human |
Tgene | STK4 | C0494261 | Combined immunodeficiency | 1 | GENOMICS_ENGLAND |