DisGeNET - a database of gene-disease associations

HPS1, HPS1 biogenesis of lysosomal organelles complex 3 subunit 1, 3257

N. diseases: 64; N. variants: 50

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121908385

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

CUI:	C0079504
Disease:

Hermanski-Pudlak Syndrome

0.700

GeneticVariation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

dbSNP:

rs281865082

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

CUI:	C0079504
Disease:

Hermanski-Pudlak Syndrome

0.700

GeneticVariation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

dbSNP:

rs281865084

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

CUI:	C0079504
Disease:

Hermanski-Pudlak Syndrome

0.700

CausalMutation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

dbSNP:

rs281865088

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

CUI:	C0079504
Disease:

Hermanski-Pudlak Syndrome

0.700

GeneticVariation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

dbSNP:

rs11189600

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs701801

Entrez Id:	3257;84795
Gene Symbol:	HPS1;PYROXD2

HPS1;PYROXD2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs701801

Entrez Id:	3257;84795
Gene Symbol:	HPS1;PYROXD2

HPS1;PYROXD2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs281865084

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

CUI:	C2931875
Disease:

Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

0.700

GeneticVariation

CLINVAR

Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders.

26806224

2016

dbSNP:

rs1061437

Entrez Id:	3257;84795
Gene Symbol:	HPS1;PYROXD2

HPS1;PYROXD2

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

A genome-wide assessment of variability in human serum metabolism.

23281178

2013

dbSNP:

rs10883094

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

A genome-wide assessment of variability in human serum metabolism.

23281178

2013

dbSNP:

rs11189600

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

A genome-wide assessment of variability in human serum metabolism.

23281178

2013

dbSNP:

rs17109834

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

A genome-wide assessment of variability in human serum metabolism.

23281178

2013

dbSNP:

rs1739

Entrez Id:	3257;84795
Gene Symbol:	HPS1;PYROXD2

HPS1;PYROXD2

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

A genome-wide assessment of variability in human serum metabolism.

23281178

2013

dbSNP:

rs2296434

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

A genome-wide assessment of variability in human serum metabolism.

23281178

2013

dbSNP:

rs2296435

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

A genome-wide assessment of variability in human serum metabolism.

23281178

2013

dbSNP:

rs2296436

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

A genome-wide assessment of variability in human serum metabolism.

23281178

2013

dbSNP:

rs3750604

Entrez Id:	3257;84795
Gene Symbol:	HPS1;PYROXD2

HPS1;PYROXD2

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

A genome-wide assessment of variability in human serum metabolism.

23281178

2013

dbSNP:

rs3750605

Entrez Id:	3257;84795
Gene Symbol:	HPS1;PYROXD2

HPS1;PYROXD2

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

A genome-wide assessment of variability in human serum metabolism.

23281178

2013

dbSNP:

rs3830019

Entrez Id:	3257;84795
Gene Symbol:	HPS1;PYROXD2

HPS1;PYROXD2

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

A genome-wide assessment of variability in human serum metabolism.

23281178

2013

dbSNP:

rs3830020

Entrez Id:	3257;84795
Gene Symbol:	HPS1;PYROXD2

HPS1;PYROXD2

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

A genome-wide assessment of variability in human serum metabolism.

23281178

2013

dbSNP:

rs701801

Entrez Id:	3257;84795
Gene Symbol:	HPS1;PYROXD2

HPS1;PYROXD2

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

A genome-wide assessment of variability in human serum metabolism.

23281178

2013

dbSNP:

rs7921146

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

A genome-wide assessment of variability in human serum metabolism.

23281178

2013

dbSNP:

rs8181292

Entrez Id:	3257;84795
Gene Symbol:	HPS1;PYROXD2

HPS1;PYROXD2

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

A genome-wide assessment of variability in human serum metabolism.

23281178

2013

dbSNP:

rs281865163

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

CUI:	C0079504
Disease:

Hermanski-Pudlak Syndrome

TGGGCCTCCCCTGCTGG

0.700

CausalMutation

CLINVAR

Novel mutations in the HPS1 gene among Puerto Rican patients.

20662851

2011

dbSNP:

rs281865084

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

CUI:	C2931875
Disease:

Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

0.700

GeneticVariation

CLINVAR

Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1).

20514622

2010