Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 Biomarker disease CLINGEN Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes. 29190429 2018
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 Biomarker disease CLINGEN NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. 27593200 2016
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 Biomarker disease CLINGEN A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family. 27942505 2016
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 GeneticVariation disease CLINVAR Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders. 26806224 2016
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 Biomarker disease GENOMICS_ENGLAND Inherited platelet disorders. 25707719 2016
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 Biomarker disease CLINGEN In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer. 25468649 2015
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 GeneticVariation disease BEFREE Genetic counseling of 51 Chinese OCA families (39 OCA-1 with mutations in the TYR gene, 6 OCA-2 with mutations in the OCA2 gene, 4 OCA-4 with mutations in the SLC45A2 gene, 1 HPS-1 (Hermansky-Pudlak syndrome-1) with mutation in the HPS1 gene, and 1 mixed OCA-1 and OCA-4) led us to perform the prenatal genetic testing of OCA using amniotic fluid cells through the implementation of our optimized strategy. 26165494 2015
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 GeneticVariation disease CLINVAR Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1). 20514622 2010
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 Biomarker disease MGD Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. 18715234 2008
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 GeneticVariation disease CLINVAR Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. 17365864 2007
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 Biomarker disease CLINGEN High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. 16185271 2005
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 Biomarker disease MGD Lung pathology of pale ear mouse (model of Hermansky-Pudlak syndrome 1) and beige mouse (model of Chediak-Higashi syndrome): severity of giant lamellar body degeneration of type II pneumocytes correlates with interstitial inflammation. 15743322 2005
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 GeneticVariation disease CLINVAR Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR. 15952982 2005
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 GeneticVariation disease BEFREE (2) Disorders of melanosome formation in the melanocyte: Hermansky-Pudlak syndrome 1-7 (HPS1-7); Chediak-Higashi syndrome 1 (CHS1). 15452859 2004
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 Biomarker disease CLINGEN Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. 12847290 2003
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 Biomarker disease CLINGEN BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. 12756248 2003
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 Biomarker disease MGD Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. 12847290 2003
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 Biomarker disease MGD Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome. 12777251 2003
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 Biomarker disease MGD Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. 12445206 2002
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 GeneticVariation disease BEFREE HPS1 mutations cause HPS-1 disease, and ADTB3A mutations cause HPS-2 disease, which is known to involve abnormal intracellular vesicle formation. 11590544 2001
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 Biomarker disease BEFREE One causative gene is HPS1, coding for a protein of unknown function and resulting in HPS-1 disease, common in northwest Puerto Rico. 11592818 2001
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 Biomarker disease GENOMICS_ENGLAND Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. 10971344 2000
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 Biomarker disease GENOMICS_ENGLAND Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. 9497254 1998
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 Biomarker disease CLINGEN Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. 9705234 1998
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		0.940 GeneticVariation disease CLINVAR Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. 9705234 1998