Table · dataset · 2026
<p>Suppl data ADPLD.</p>
Listed in HKU DataHub and figshare and Loughborough Research Repository and UP Research Data Repository — shown once because both records carry DOI 10.1371/journal.pone.0348109.s001
<div><p>Autosomal dominant polycystic liver disease (ADPLD) commonly results from pathogenic variants in one of 7 genes (<i>GANAB, ALG8, ALG9, PRKCSH, SEC63</i> and possibly <i>LRP5</i> and <i>SEC61B)</i>.
Description
These genes are also included in kidney panels because pathogenic variants cause kidney cysts but rarely kidney failure. This study determined the population frequency of predicted pathogenic variants in the ADPLD genes in the general population.
Variants for each gene were downloaded from gnomADv.2.1.1 and annotated with ANNOVAR. The population frequencies were calculated from the number of people with ‘predicted pathogenic’ variants in gnomAD: loss-of-function structural and copy number; null; and rare, computationally-damaging missense changes that affected a conserved residue. Frequencies were also estimated from the number of gnomADv.4.1 variants assessed as Pathogenic or Likely pathogenic in ClinVar.
Read the rest (2 more)
Predicted pathogenic variants affected one in 91 people using our strategy and gnomAD v.2.1.1, and one in 130 with ClinVar assessments of gnomAD v.4.1 variants. <i>LRP5</i> and <i>ALG8</i> which are associated with a milder clinical phenotype, were the commonest affected genes with both strategies. Predicted pathogenic variants in ADPLD appear more frequent in admixed American (one in 91), Finnish (one in 110) and African/African American (one in 43) people (p all < 0.0001 compared with Europeans (one in 187).
Predicted pathogenic variants for ADPLD may be even more common with the finding of additional causative genes. Assessments will become more accurate too. However not all ADPLD variants result in liver cysts, nor indeed cystic kidneys, because of incomplete penetrance and variable expressivity.</p></div>
Links
Where it is published
- DOI doi.org/10.1371/journal.pone.0348109.s001 ↗
DOI / persistent id · from datahub hku hk
Catalogue records · 1
- OAI-PMH record api.figshare.com/v2/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3Af… ↗
metadata API · from datahub hku hk
Topics
- From keywords
- Astronomy & Astrophysics · Bioinformatics and computational biology · Bioinformatics and computational biology · Bioinformatics and computational biology · Bioinformatics and computational biology · Chemistry · Chemistry · Computer Science & AI · Computer Science & AI · Earth & Environmental Science · Earth & Environmental Science · Earth & Environmental Science · Earth & Environmental Science · Ecology · Ecology · Ecology · Ecology · Economics & Finance · Economics & Finance · Engineering · Engineering · Engineering · Evolutionary biology · Evolutionary biology · Evolutionary biology · Evolutionary biology · Genetics · Genetics · Genetics · Genetics · Humanities · Humanities · Humanities · Infectious diseases · Infectious diseases · Infectious diseases · Infectious diseases · Life Sciences · Life Sciences · Life Sciences · Life Sciences · Materials Science · Mathematics & Statistics · Mathematics & Statistics · Mathematics & Statistics · Mathematics & Statistics · Medicine & Health · Medicine & Health · Medicine & Health · Medicine & Health · Microbiology · Microbiology · Microbiology · Microbiology · Ocean & Atmospheric Science · Psychology & Behavioral Science · Social Science · Social Science · Social Science · Virology · Virology · Virology · Virology
- Inferred from text
- Disease 75%
Provenance · 4 source records, 69 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| HKU DataHub | oai:figshare.com:article/34017076 | 12 d ago | JSON v1 |
| figshare | oai:figshare.com:article/34017076 | 11 d ago | JSON v1 |
| Loughborough Research Repository | oai:figshare.com:article/34017076 | 11 d ago | JSON v1 |
| UP Research Data Repository | oai:figshare.com:article/34017076 | 11 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · datahub hku hk | connector:datahub_hku_hk@1.0.0 | |
| concepts[disease].local:disease:disease | enrichment · datahub hku hk | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[field].anzsrc:field:310706 | mapping · figshare com | vocabulary-mapper@1.0.0 | keywords['Virology'] |
| concepts[field].anzsrc:field:310706 | mapping · researchdata up ac za | vocabulary-mapper@1.0.0 | keywords['Virology'] |
| concepts[field].anzsrc:field:310706 | mapping · repository lboro ac uk | vocabulary-mapper@1.0.0 | keywords['Virology'] |
| concepts[field].anzsrc:field:310706 | mapping · datahub hku hk | vocabulary-mapper@1.0.0 | keywords['Virology'] |
| concepts[field].anzsrc:field:320211 | mapping · datahub hku hk | vocabulary-mapper@1.0.0 | keywords['Infectious Diseases'] |
| concepts[field].anzsrc:field:320211 | mapping · repository lboro ac uk | vocabulary-mapper@1.0.0 | keywords['Infectious Diseases'] |
| concepts[field].anzsrc:field:320211 | mapping · researchdata up ac za | vocabulary-mapper@1.0.0 | keywords['Infectious Diseases'] |
| concepts[field].anzsrc:field:320211 | mapping · figshare com | vocabulary-mapper@1.0.0 | keywords['Infectious Diseases'] |
| concepts[field].anzsrc:group:3102 | mapping · figshare com | vocabulary-mapper@1.0.0 | keywords['Computational Biology'] |
| concepts[field].anzsrc:group:3102 | mapping · repository lboro ac uk | vocabulary-mapper@1.0.0 | keywords['Computational Biology'] |
| concepts[field].anzsrc:group:3102 | mapping · researchdata up ac za | vocabulary-mapper@1.0.0 | keywords['Computational Biology'] |
| concepts[field].anzsrc:group:3102 | mapping · datahub hku hk | vocabulary-mapper@1.0.0 | keywords['Computational Biology'] |
| concepts[field].anzsrc:group:3103 | mapping · figshare com | vocabulary-mapper@1.0.0 | keywords['Ecology'] |
| concepts[field].anzsrc:group:3103 | mapping · researchdata up ac za | vocabulary-mapper@1.0.0 | keywords['Ecology'] |
| concepts[field].anzsrc:group:3103 | mapping · datahub hku hk | vocabulary-mapper@1.0.0 | keywords['Ecology'] |
| concepts[field].anzsrc:group:3103 | mapping · repository lboro ac uk | vocabulary-mapper@1.0.0 | keywords['Ecology'] |
| concepts[field].anzsrc:group:3104 | mapping · researchdata up ac za | vocabulary-mapper@1.0.0 | keywords['Evolutionary Biology'] |
| concepts[field].anzsrc:group:3104 | mapping · figshare com | vocabulary-mapper@1.0.0 | keywords['Evolutionary Biology'] |
| concepts[field].anzsrc:group:3104 | mapping · datahub hku hk | vocabulary-mapper@1.0.0 | keywords['Evolutionary Biology'] |
| concepts[field].anzsrc:group:3104 | mapping · repository lboro ac uk | vocabulary-mapper@1.0.0 | keywords['Evolutionary Biology'] |
| concepts[field].anzsrc:group:3105 | mapping · repository lboro ac uk | vocabulary-mapper@1.0.0 | keywords['Genetics'] |
| concepts[field].anzsrc:group:3105 | mapping · datahub hku hk | vocabulary-mapper@1.0.0 | keywords['Genetics'] |
| concepts[field].anzsrc:group:3105 | mapping · researchdata up ac za | vocabulary-mapper@1.0.0 | keywords['Genetics'] |
| concepts[field].anzsrc:group:3105 | mapping · figshare com | vocabulary-mapper@1.0.0 | keywords['Genetics'] |
| concepts[field].anzsrc:group:3107 | mapping · datahub hku hk | vocabulary-mapper@1.0.0 | keywords['Microbiology'] |
| concepts[field].anzsrc:group:3107 | mapping · repository lboro ac uk | vocabulary-mapper@1.0.0 | keywords['Microbiology'] |
| concepts[field].anzsrc:group:3107 | mapping · researchdata up ac za | vocabulary-mapper@1.0.0 | keywords['Microbiology'] |
| concepts[field].anzsrc:group:3107 | mapping · figshare com | vocabulary-mapper@1.0.0 | keywords['Microbiology'] |
| concepts[field].local:field:astronomy | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:chemistry | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:chemistry | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:computer-science-ai | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:computer-science-ai | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · datahub hku hk | connector:datahub_hku_hk@1.0.0 | |
| concepts[field].local:field:economics-finance | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:economics-finance | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:engineering | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:engineering | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:engineering | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:humanities | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:humanities | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:humanities | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · datahub hku hk | connector:datahub_hku_hk@1.0.0 | |
| concepts[field].local:field:materials-science | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · datahub hku hk | connector:datahub_hku_hk@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · datahub hku hk | connector:datahub_hku_hk@1.0.0 | |
| concepts[field].local:field:ocean-atmospheric | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:psychology-behavioral | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:social-science | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:social-science | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:social-science | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| description | source · datahub hku hk | connector:datahub_hku_hk@1.0.0 | /metadata/dc/description |
| license | source · datahub hku hk | connector:datahub_hku_hk@1.0.0 | /metadata/dc/rights |
| publication_date | source · datahub hku hk | connector:datahub_hku_hk@1.0.0 | |
| title | source · datahub hku hk | connector:datahub_hku_hk@1.0.0 | /metadata/dc/title |