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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for APP |
 Gene summary |
| Gene information | Gene symbol | APP | Gene ID | 351 |
| Gene name | amyloid beta precursor protein | |
| Synonyms | AAA|ABETA|ABPP|AD1|APPI|CTFgamma|CVAP|PN-II|PN2|preA4 | |
| Cytomap | 21q21.3 | |
| Type of gene | protein-coding | |
| Description | amyloid-beta A4 proteinalzheimer disease amyloid proteinamyloid beta (A4) precursor proteinamyloid beta A4 proteinamyloid precursor proteinbeta-amyloid peptidebeta-amyloid peptide(1-40)beta-amyloid peptide(1-42)beta-amyloid precursor proteincereb | |
| Modification date | 20180527 | |
| UniProtAcc | P05067 | |
| Context | PubMed: APP [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| APP | GO:0001934 | positive regulation of protein phosphorylation | 11404397 |
| APP | GO:0008285 | negative regulation of cell proliferation | 22944668 |
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Exon skipping events across known transcript of Ensembl for APP from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for APP |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for APP |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_361401 | 21 | 27253824:27254082:27264033:27264180:27269884:27269985 | 27264033:27264180 | ENSG00000142192.16 | ENST00000354192.3,ENST00000348990.5,ENST00000448388.2,ENST00000359726.3,ENST00000439274.2,ENST00000440126.3,ENST00000464867.1,ENST00000357903.3,ENST00000358918.3,ENST00000346798.3 |
| exon_skip_361410 | 21 | 27264109:27264180:27269884:27269985:27277335:27277389 | 27269884:27269985 | ENSG00000142192.16 | ENST00000354192.3,ENST00000348990.5,ENST00000448388.2,ENST00000359726.3,ENST00000439274.2,ENST00000440126.3,ENST00000357903.3,ENST00000346798.3 |
| exon_skip_361411 | 21 | 27264109:27264180:27269884:27269985:27284052:27284274 | 27269884:27269985 | ENSG00000142192.16 | ENST00000456209.2,ENST00000358918.3 |
| exon_skip_361418 | 21 | 27269884:27269985:27277335:27277389:27284052:27284274 | 27277335:27277389 | ENSG00000142192.16 | ENST00000354192.3,ENST00000348990.5,ENST00000448388.2,ENST00000359726.3,ENST00000439274.2,ENST00000440126.3,ENST00000357903.3,ENST00000346798.3 |
| exon_skip_361420 | 21 | 27269884:27269985:27284052:27284274:27326903:27327003 | 27284052:27284274 | ENSG00000142192.16 | ENST00000456209.2,ENST00000358918.3 |
| exon_skip_361422 | 21 | 27277335:27277389:27284052:27284274:27326903:27327003 | 27284052:27284274 | ENSG00000142192.16 | ENST00000354192.3,ENST00000348990.5,ENST00000448388.2,ENST00000359726.3,ENST00000439274.2,ENST00000440126.3,ENST00000357903.3,ENST00000346798.3 |
| exon_skip_361425 | 21 | 27326903:27327003:27327940:27328069:27347382:27347532 | 27327940:27328069 | ENSG00000142192.16 | ENST00000354192.3,ENST00000348990.5,ENST00000448388.2,ENST00000359726.3,ENST00000439274.2,ENST00000448850.1,ENST00000456209.2,ENST00000440126.3,ENST00000357903.3,ENST00000358918.3,ENST00000346798.3 |
| exon_skip_361430 | 21 | 27347502:27347541:27348266:27348341:27354656:27354790 | 27348266:27348341 | ENSG00000142192.16 | ENST00000354192.3,ENST00000348990.5,ENST00000448388.2,ENST00000359726.3,ENST00000439274.2,ENST00000448850.1,ENST00000440126.3,ENST00000415997.1,ENST00000357903.3,ENST00000358918.3,ENST00000346798.3 |
| exon_skip_361434 | 21 | 27354656:27354790:27369674:27369731:27372329:27372344 | 27369674:27369731 | ENSG00000142192.16 | ENST00000439274.2,ENST00000358918.3,ENST00000346798.3 |
| exon_skip_361435 | 21 | 27354656:27354790:27369674:27369731:27394155:27394243 | 27369674:27369731 | ENSG00000142192.16 | ENST00000359726.3,ENST00000415997.1 |
| exon_skip_361437 | 21 | 27354656:27354790:27372329:27372497:27394155:27394243 | 27372329:27372497 | ENSG00000142192.16 | ENST00000448850.1,ENST00000440126.3,ENST00000357903.3 |
| exon_skip_361440 | 21 | 27369674:27369731:27372329:27372497:27394155:27394243 | 27372329:27372497 | ENSG00000142192.16 | ENST00000439274.2,ENST00000491395.1,ENST00000358918.3,ENST00000346798.3 |
| exon_skip_361445 | 21 | 27425551:27425664:27462258:27462388:27484295:27484400 | 27462258:27462388 | ENSG00000142192.16 | ENST00000348990.5,ENST00000448388.2,ENST00000359726.3,ENST00000474136.1,ENST00000440126.3,ENST00000357903.3,ENST00000358918.3,ENST00000346798.3 |
| exon_skip_361446 | 21 | 27425551:27425664:27462258:27462388:27542881:27542972 | 27462258:27462388 | ENSG00000142192.16 | ENST00000354192.3,ENST00000439274.2 |
| exon_skip_361448 | 21 | 27462258:27462388:27484295:27484463:27542881:27542972 | 27484295:27484463 | ENSG00000142192.16 | ENST00000348990.5,ENST00000359726.3,ENST00000474136.1,ENST00000357903.3,ENST00000358918.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for APP |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_361401 | 21 | 27253824:27254082:27264033:27264180:27269884:27269985 | 27264033:27264180 | ENSG00000142192.16 | ENST00000346798.3,ENST00000354192.3,ENST00000348990.5,ENST00000357903.3,ENST00000358918.3,ENST00000359726.3,ENST00000448388.2,ENST00000440126.3,ENST00000439274.2,ENST00000464867.1 |
| exon_skip_361410 | 21 | 27264109:27264180:27269884:27269985:27277335:27277389 | 27269884:27269985 | ENSG00000142192.16 | ENST00000346798.3,ENST00000354192.3,ENST00000348990.5,ENST00000357903.3,ENST00000359726.3,ENST00000448388.2,ENST00000440126.3,ENST00000439274.2 |
| exon_skip_361411 | 21 | 27264109:27264180:27269884:27269985:27284052:27284274 | 27269884:27269985 | ENSG00000142192.16 | ENST00000358918.3,ENST00000456209.2 |
| exon_skip_361418 | 21 | 27269884:27269985:27277335:27277389:27284052:27284274 | 27277335:27277389 | ENSG00000142192.16 | ENST00000346798.3,ENST00000354192.3,ENST00000348990.5,ENST00000357903.3,ENST00000359726.3,ENST00000448388.2,ENST00000440126.3,ENST00000439274.2 |
| exon_skip_361420 | 21 | 27269884:27269985:27284052:27284274:27326903:27327003 | 27284052:27284274 | ENSG00000142192.16 | ENST00000358918.3,ENST00000456209.2 |
| exon_skip_361422 | 21 | 27277335:27277389:27284052:27284274:27326903:27327003 | 27284052:27284274 | ENSG00000142192.16 | ENST00000346798.3,ENST00000354192.3,ENST00000348990.5,ENST00000357903.3,ENST00000359726.3,ENST00000448388.2,ENST00000440126.3,ENST00000439274.2 |
| exon_skip_361425 | 21 | 27326903:27327003:27327940:27328069:27347382:27347532 | 27327940:27328069 | ENSG00000142192.16 | ENST00000346798.3,ENST00000354192.3,ENST00000348990.5,ENST00000357903.3,ENST00000358918.3,ENST00000359726.3,ENST00000448388.2,ENST00000440126.3,ENST00000439274.2,ENST00000456209.2,ENST00000448850.1 |
| exon_skip_361430 | 21 | 27347502:27347541:27348266:27348341:27354656:27354790 | 27348266:27348341 | ENSG00000142192.16 | ENST00000346798.3,ENST00000354192.3,ENST00000348990.5,ENST00000357903.3,ENST00000358918.3,ENST00000359726.3,ENST00000448388.2,ENST00000440126.3,ENST00000439274.2,ENST00000448850.1,ENST00000415997.1 |
| exon_skip_361434 | 21 | 27354656:27354790:27369674:27369731:27372329:27372344 | 27369674:27369731 | ENSG00000142192.16 | ENST00000346798.3,ENST00000358918.3,ENST00000439274.2 |
| exon_skip_361435 | 21 | 27354656:27354790:27369674:27369731:27394155:27394243 | 27369674:27369731 | ENSG00000142192.16 | ENST00000359726.3,ENST00000415997.1 |
| exon_skip_361437 | 21 | 27354656:27354790:27372329:27372497:27394155:27394243 | 27372329:27372497 | ENSG00000142192.16 | ENST00000357903.3,ENST00000440126.3,ENST00000448850.1 |
| exon_skip_361440 | 21 | 27369674:27369731:27372329:27372497:27394155:27394243 | 27372329:27372497 | ENSG00000142192.16 | ENST00000346798.3,ENST00000358918.3,ENST00000439274.2,ENST00000491395.1 |
| exon_skip_361445 | 21 | 27425551:27425664:27462258:27462388:27484295:27484400 | 27462258:27462388 | ENSG00000142192.16 | ENST00000346798.3,ENST00000348990.5,ENST00000357903.3,ENST00000358918.3,ENST00000359726.3,ENST00000448388.2,ENST00000440126.3,ENST00000474136.1 |
| exon_skip_361446 | 21 | 27425551:27425664:27462258:27462388:27542881:27542972 | 27462258:27462388 | ENSG00000142192.16 | ENST00000354192.3,ENST00000439274.2 |
| exon_skip_361448 | 21 | 27462258:27462388:27484295:27484463:27542881:27542972 | 27484295:27484463 | ENSG00000142192.16 | ENST00000348990.5,ENST00000357903.3,ENST00000358918.3,ENST00000359726.3,ENST00000474136.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for APP |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000346798 | 27269884 | 27269985 | Frame-shift |
| ENST00000346798 | 27462258 | 27462388 | Frame-shift |
| ENST00000346798 | 27264033 | 27264180 | In-frame |
| ENST00000346798 | 27277335 | 27277389 | In-frame |
| ENST00000346798 | 27284052 | 27284274 | In-frame |
| ENST00000346798 | 27327940 | 27328069 | In-frame |
| ENST00000346798 | 27348266 | 27348341 | In-frame |
| ENST00000346798 | 27369674 | 27369731 | In-frame |
| ENST00000346798 | 27372329 | 27372497 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000346798 | 27269884 | 27269985 | Frame-shift |
| ENST00000346798 | 27462258 | 27462388 | Frame-shift |
| ENST00000346798 | 27264033 | 27264180 | In-frame |
| ENST00000346798 | 27277335 | 27277389 | In-frame |
| ENST00000346798 | 27284052 | 27284274 | In-frame |
| ENST00000346798 | 27327940 | 27328069 | In-frame |
| ENST00000346798 | 27348266 | 27348341 | In-frame |
| ENST00000346798 | 27369674 | 27369731 | In-frame |
| ENST00000346798 | 27372329 | 27372497 | In-frame |
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Infer the effects of exon skipping event on protein functional features for APP |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000346798 | 3484 | 770 | 27372329 | 27372497 | 900 | 1067 | 288 | 344 |
| ENST00000346798 | 3484 | 770 | 27369674 | 27369731 | 1068 | 1124 | 344 | 363 |
| ENST00000346798 | 3484 | 770 | 27348266 | 27348341 | 1259 | 1333 | 408 | 433 |
| ENST00000346798 | 3484 | 770 | 27327940 | 27328069 | 1493 | 1621 | 486 | 529 |
| ENST00000346798 | 3484 | 770 | 27284052 | 27284274 | 1722 | 1943 | 562 | 636 |
| ENST00000346798 | 3484 | 770 | 27277335 | 27277389 | 1944 | 1997 | 636 | 654 |
| ENST00000346798 | 3484 | 770 | 27264033 | 27264180 | 2099 | 2245 | 688 | 737 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000346798 | 3484 | 770 | 27372329 | 27372497 | 900 | 1067 | 288 | 344 |
| ENST00000346798 | 3484 | 770 | 27369674 | 27369731 | 1068 | 1124 | 344 | 363 |
| ENST00000346798 | 3484 | 770 | 27348266 | 27348341 | 1259 | 1333 | 408 | 433 |
| ENST00000346798 | 3484 | 770 | 27327940 | 27328069 | 1493 | 1621 | 486 | 529 |
| ENST00000346798 | 3484 | 770 | 27284052 | 27284274 | 1722 | 1943 | 562 | 636 |
| ENST00000346798 | 3484 | 770 | 27277335 | 27277389 | 1944 | 1997 | 636 | 654 |
| ENST00000346798 | 3484 | 770 | 27264033 | 27264180 | 2099 | 2245 | 688 | 737 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for APP |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-AACI-01 | exon_skip_361425 | 27327941 | 27328069 | 27328044 | 27328044 | Frame_Shift_Del | T | - | p.K495fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_361430 | 27348267 | 27348341 | 27348291 | 27348291 | Frame_Shift_Del | T | - | p.K425fs |
| LUAD | TCGA-55-8507-01 | exon_skip_361430 | 27348267 | 27348341 | 27348320 | 27348320 | Frame_Shift_Del | C | - | p.A416fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_361440 exon_skip_361437 | 27372330 | 27372497 | 27372361 | 27372361 | Frame_Shift_Del | T | - | p.E335fs |
| KICH | TCGA-KO-8407-01 | exon_skip_361440 exon_skip_361437 | 27372330 | 27372497 | 27372385 | 27372386 | Frame_Shift_Ins | - | C | p.G326fs |
| UCEC | TCGA-BG-A0W2-01 | exon_skip_361410 exon_skip_361411 | 27269885 | 27269985 | 27269929 | 27269929 | Nonsense_Mutation | C | A | p.E674* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_361430 | 27348267 | 27348341 | 27348303 | 27348303 | Nonsense_Mutation | C | A | p.E324* |
| COAD | TCGA-CM-4746-01 | exon_skip_361440 exon_skip_361437 | 27372330 | 27372497 | 27372415 | 27372415 | Nonsense_Mutation | A | T | p.C316X |
| LUSC | TCGA-46-3769-01 | exon_skip_361440 exon_skip_361437 | 27372330 | 27372497 | 27372439 | 27372439 | Nonsense_Mutation | G | C | p.Y308* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-46-3769-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_361437 | |
| Skipped exon start: 27372330 | |
| Skipped exon end: 27372497 | |
| Mutation start: 27372439 | |
| Mutation end: 27372439 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: C | |
| AAchange: p.Y308* | |
exon_skip_25126_LUSC_TCGA-46-3769-01.png | |
exon_skip_361437_LUSC_TCGA-46-3769-01.png | |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| SNU1040_LARGE_INTESTINE | 27264034 | 27264180 | 27264044 | 27264044 | Missense_Mutation | C | T | p.G734D |
| SNU81_LARGE_INTESTINE | 27269885 | 27269985 | 27269949 | 27269949 | Missense_Mutation | G | A | p.S667F |
| KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27269885 | 27269985 | 27269950 | 27269950 | Missense_Mutation | A | G | p.S667P |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27327941 | 27328069 | 27327958 | 27327958 | Missense_Mutation | C | T | p.A524T |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27327941 | 27328069 | 27327969 | 27327969 | Missense_Mutation | G | T | p.P520H |
| SKUT1_SOFT_TISSUE | 27327941 | 27328069 | 27327982 | 27327982 | Missense_Mutation | G | A | p.R516C |
| HSC39_STOMACH | 27327941 | 27328069 | 27327997 | 27327997 | Missense_Mutation | G | A | p.H511Y |
| KYM1_SOFT_TISSUE | 27327941 | 27328069 | 27327998 | 27327998 | Missense_Mutation | C | G | p.K510N |
| TE9_OESOPHAGUS | 27327941 | 27328069 | 27327998 | 27327998 | Missense_Mutation | C | G | p.K510N |
| JHH4_LIVER | 27327941 | 27328069 | 27327998 | 27327998 | Missense_Mutation | C | G | p.K510N |
| NCIH510_LUNG | 27348267 | 27348341 | 27348287 | 27348287 | Missense_Mutation | C | G | p.D427H |
| EPLC272H_LUNG | 27348267 | 27348341 | 27348317 | 27348317 | Missense_Mutation | C | T | p.E417K |
| COLO668_LUNG | 27369675 | 27369731 | 27369699 | 27369699 | Missense_Mutation | G | C | p.P356A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 27372330 | 27372497 | 27372413 | 27372413 | Missense_Mutation | G | A | p.A317V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27372330 | 27372497 | 27372413 | 27372413 | Missense_Mutation | G | A | p.A317V |
| HCC1428_BREAST | 27372330 | 27372497 | 27372449 | 27372449 | Missense_Mutation | G | A | p.S305F |
| A2058_SKIN | 27462259 | 27462388 | 27462309 | 27462309 | Missense_Mutation | C | G | p.R102P |
| NUGC3_STOMACH | 27462259 | 27462388 | 27462315 | 27462315 | Missense_Mutation | C | T | p.R100Q |
| LNCAPCLONEFGC_PROSTATE | 27462259 | 27462388 | 27462343 | 27462343 | Missense_Mutation | G | T | p.P91T |
| SNU1040_LARGE_INTESTINE | 27269885 | 27269985 | 27269923 | 27269923 | Nonsense_Mutation | G | A | p.R676* |
| MDAMB361_BREAST | 27372330 | 27372497 | 27372443 | 27372443 | Nonsense_Mutation | C | T | p.W307* |
| CCK81_LARGE_INTESTINE | 27277336 | 27277389 | 27277337 | 27277337 | Splice_Site | T | C | p.P654P |
| SNU626_CENTRAL_NERVOUS_SYSTEM | 27484296 | 27484463 | 27484463 | 27484463 | Splice_Site | C | T | p.V20I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for APP |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for APP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for APP |
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RelatedDrugs for APP |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P05067 | DB06782 | Dimercaprol | Amyloid-beta A4 protein | small molecule | approved | |
| P05067 | DB09148 | Florbetaben (18F) | Amyloid-beta A4 protein | small molecule | approved | |
| P05067 | DB00746 | Deferoxamine | Amyloid-beta A4 protein | small molecule | approved|investigational | |
| P05067 | DB01593 | Zinc | Amyloid-beta A4 protein | small molecule | approved|investigational | |
| P05067 | DB09149 | Florbetapir (18F) | Amyloid-beta A4 protein | small molecule | approved|investigational | |
| P05067 | DB09151 | Flutemetamol (18F) | Amyloid-beta A4 protein | small molecule | approved|investigational | |
| P05067 | DB14487 | Zinc acetate | Amyloid-beta A4 protein | small molecule | approved|investigational | |
| P05067 | DB14517 | Aluminium phosphate | Amyloid-beta A4 protein | small molecule | approved|investigational | |
| P05067 | DB14533 | Zinc chloride | Amyloid-beta A4 protein | small molecule | approved|investigational |
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RelatedDiseases for APP |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| APP | C0002395 | Alzheimer's Disease | 55 | CTD_human;HPO;ORPHANET;UNIPROT |
| APP | C0025261 | Memory Disorders | 12 | CTD_human |
| APP | C0027746 | Nerve Degeneration | 11 | CTD_human |
| APP | C0023186 | Learning Disorders | 6 | CTD_human |
| APP | C0011570 | Mental Depression | 5 | PSYGENET |
| APP | C0011581 | Depressive disorder | 5 | PSYGENET |
| APP | C2751536 | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED | 5 | ORPHANET;UNIPROT |
| APP | C0009241 | Cognition Disorders | 4 | CTD_human |
| APP | C0522224 | Paralysed | 4 | CTD_human |
| APP | C0524851 | Neurodegenerative Disorders | 2 | CTD_human |
| APP | C0600467 | Neurogenic Inflammation | 2 | CTD_human |
| APP | C2931672 | Cerebral hemorrhage with amyloidosis, hereditary, Dutch type | 2 | CTD_human;ORPHANET |
| APP | C0002622 | Amnesia | 1 | CTD_human |
| APP | C0002726 | Amyloidosis | 1 | CTD_human |
| APP | C0003469 | Anxiety Disorders | 1 | CTD_human |
| APP | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| APP | C0006111 | Brain Diseases | 1 | CTD_human |
| APP | C0011573 | Endogenous depression | 1 | PSYGENET |
| APP | C0016667 | Fragile X Syndrome | 1 | CTD_human |
| APP | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| APP | C0027540 | Necrosis | 1 | CTD_human |
| APP | C0037928 | Spinal Cord Diseases | 1 | CTD_human |
| APP | C0038002 | Splenomegaly | 1 | CTD_human |
| APP | C0043094 | Weight Gain | 1 | CTD_human |
| APP | C0085220 | Cerebral Amyloid Angiopathy | 1 | CTD_human;HPO |
| APP | C0231341 | Premature aging syndrome | 1 | CTD_human |
| APP | C0338656 | Impaired cognition | 1 | CTD_human |
| APP | C0497327 | Dementia | 1 | CTD_human;HPO |
| APP | C2936349 | Plaque, Amyloid | 1 | CTD_human |
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