(Q56003380)

English

hyperlipoproteinemia, type 1D

human disease

HYPERLIPOPROTEINEMIA, TYPE ID

In more languages

Statements

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class of disease

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genetic association

2 references

Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650).

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000277494/Orphanet_411

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000175445/Orphanet_411

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_411

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Identifiers

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mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

UniProt disease ID

0 references

Sitelinks

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Wikiversity(0 entries)

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Wiktionary(0 entries)

Multilingual sites(0 entries)

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