Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 Biomarker disease GENOMICS_ENGLAND A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8. 22709368 2012
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 GeneticVariation disease BEFREE A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). 16385460 2006
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 GermlineCausalMutation disease ORPHANET A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). 16385460 2006
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 Biomarker disease GENOMICS_ENGLAND A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). 16385460 2006
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 Biomarker disease MGD Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. 12445206 2002
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 Biomarker disease MGD Lysosomal mutations increase susceptibility to anaesthetics. 2513223 1989
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 Biomarker disease MGD Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity. 7089489 1982
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 Biomarker disease MGD Reduced pigmentation (rp), a new coat colour gene with effects on kidney lysosomal glycosidases in the mouse. 7203014 1981
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 Biomarker disease GENOMICS_ENGLAND
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 CausalMutation disease CLINVAR
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.620 GeneticVariation disease BEFREE A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8. 22709368 2012
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.620 GeneticVariation disease LHGDN A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). 16385460 2006
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.620 GeneticVariation disease BEFREE A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). 16385460 2006
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.620 Biomarker disease GENOMICS_ENGLAND
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.620 CausalMutation disease CLINVAR
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.620 Biomarker disease CTD_human
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 GeneticVariation disease BEFREE As it is known that HPS is caused by a local mutation in one of the human genes, named HPS1 to HPS8 and PLDN (HPS9), encoding subunit proteins involved in endosomal trafficking pathways, here, we report the mutation causing the siblings disease and a case-control association study of schizophrenia using polymorphisms of a gene to be screened in the mutation analysis. 23563589 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease BEFREE We identified significant evidence of association between BLOC1S3 and SZ (odds ratio = 1.45, confidence interval = 1.13-1.86, p = .0028, corrected p = .0389). 17618940 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease PSYGENET We identified significant evidence of association between BLOC1S3 and SZ (odds ratio = 1.45, confidence interval = 1.13-1.86, p = .0028, corrected p = .0389). 17618940 2008
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.300 Biomarker disease CTD_human Progesterone resistance in PCOS endometrium: a microarray analysis in clomiphene citrate-treated and artificial menstrual cycles. 21411543 2011
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries 		0.300 Biomarker disease CTD_human Progesterone resistance in PCOS endometrium: a microarray analysis in clomiphene citrate-treated and artificial menstrual cycles. 21411543 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASCAT Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. 30617256 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASCAT GWAS on family history of Alzheimer's disease. 29777097 2018
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016