(Q1506216)

RETRACTED: A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

HPS3

1 reference

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

HPS6

1 reference

Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

HPS5

2 references

Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

https://platform.opentargets.org/evidence/ENSG00000110756/MONDO_0019312

Open Targets Platform

retrieved

24 August 2023

reference URL

based on heuristic

inferred from an Open Targets association score over 0.7

DTNBP1

1 reference

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

BLOC1S3

1 reference

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)

HPS4

1 reference

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

AP3B1

1 reference

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

HPS1

1 reference

https://platform.opentargets.org/evidence/ENSG00000107521/MONDO_0019312

Open Targets Platform

retrieved

24 August 2023

reference URL

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

ICD-9-CM

270.2

1 reference

7 August 2018

C37261

1 reference

15 May 2019

C37261

exact match

1 reference

http://purl.obolibrary.org/obo/DOID_3753

7 August 2018

1 reference

15 May 2019

http://identifiers.org/doid/DOID:3753

1 reference

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

Identifiers.org

reference URL

http://www.orpha.net/ORDO/Orphanet_231531

0 references

http://www.orpha.net/ORDO/Orphanet_231537

0 references

http://www.orpha.net/ORDO/Orphanet_280663

0 references

http://www.orpha.net/ORDO/Orphanet_79430

0 references

Identifiers

MeSH descriptor ID

D022861

exact match

subject named as

Hermanski-Pudlak Syndrome

1 reference

C16.320.565.100.102.100.400

7 August 2018

0 references

0 references

0 references

0 references

0 references

0 references

C16.320.290.040.100.400

0 references

0 references

C16.320.850.080.100.400

0 references

C17.800.621.440.102.100.400

0 references

C17.800.827.080.100.400

0 references

C18.452.648.100.102.100.400

0 references

0 references

1 reference

15 May 2019

1 reference

imported from Wikimedia project

English Wikipedia

eMedicine ID

1069291

1 reference

imported from Wikimedia project

1 reference

28 October 2013

1 reference

15 May 2019

2 references

15 May 2019

7 August 2018

1 reference

imported from Wikimedia project

retrieved

7 August 2018

Mondo ID

MONDO_0019312

ICD-11 ID (Foundation)

2089801290

0 references

Microsoft Academic ID

0 references

0 references

1 reference

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

exact match

1 reference

https://browser.ihtsdotools.org/

7 August 2018

1 reference

UMLS CUI

C0079504

close match

1 reference