Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.530 GeneticVariation disease BEFREE The current study represents a second confirmation report and implicates AP3D1 mutations as a cause of Hermansky-Pudlak Syndrome type 10. 30472485 2019
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.530 Biomarker disease GENOMICS_ENGLAND A previously described hypopigmented mouse mutant with an Ap3d1 null mutation (mocha strain) shares the neurologic phenotype with our patient and shows a platelet storage pool deficiency characteristic of Hermansky-Pudlak syndrome (HPS) that was not studied in our patient because of a lack of bleeding. 26744459 2016
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.530 GeneticVariation disease BEFREE A previously described hypopigmented mouse mutant with an Ap3d1 null mutation (mocha strain) shares the neurologic phenotype with our patient and shows a platelet storage pool deficiency characteristic of Hermansky-Pudlak syndrome (HPS) that was not studied in our patient because of a lack of bleeding. 26744459 2016
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.530 GeneticVariation disease BEFREE Here we show that Nxf1(CAST) suppresses a specific and frequent class of intracisternal A particle (IAP)-induced mutations, including Ap3d1(mh2J), a model for Hermansky-Pudlak syndrome, and Atcay(hes), an orthologous gene model for Cayman ataxia, among others. 19436707 2009
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.530 Biomarker disease CTD_human
CUI: C0001916
Disease: Albinism
Albinism 		0.410 Biomarker disease GENOMICS_ENGLAND AP3δ deficiency thus causes a severe neurologic disorder with immunodeficiency and albinism that we propose to classify as HPS10. 26744459 2016
CUI: C0001916
Disease: Albinism
Albinism 		0.410 Biomarker disease BEFREE AP3δ deficiency thus causes a severe neurologic disorder with immunodeficiency and albinism that we propose to classify as HPS10. 26744459 2016
CUI: C0001916
Disease: Albinism
Albinism 		0.410 Biomarker disease HPO
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. 26744459 2016
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		0.400 GeneticVariation disease ORPHANET Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. 26744459 2016
CUI: C4310746
Disease: HERMANSKY-PUDLAK SYNDROME 10
HERMANSKY-PUDLAK SYNDROME 10 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. 26744459 2016
CUI: C4310746
Disease: HERMANSKY-PUDLAK SYNDROME 10
HERMANSKY-PUDLAK SYNDROME 10 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. 26744459 2016
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.400 Biomarker disease HPO
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		0.400 Biomarker disease HPO
CUI: C4310746
Disease: HERMANSKY-PUDLAK SYNDROME 10
HERMANSKY-PUDLAK SYNDROME 10 		0.400 CausalMutation disease CLINVAR
CUI: C4310746
Disease: HERMANSKY-PUDLAK SYNDROME 10
HERMANSKY-PUDLAK SYNDROME 10 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		0.300 Biomarker group GENOMICS_ENGLAND A new type of syndromic albinism associated with mutations in AP3D1. 27900855 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. 26744459 2016
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.210 GeneticVariation disease BEFREE A previously described hypopigmented mouse mutant with an Ap3d1 null mutation (mocha strain) shares the neurologic phenotype with our patient and shows a platelet storage pool deficiency characteristic of Hermansky-Pudlak syndrome (HPS) that was not studied in our patient because of a lack of bleeding. 26744459 2016
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.210 Biomarker disease MGD Gravity receptor function in mice with graded otoconial deficiencies. 15109702 2004
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.210 Biomarker disease MGD Mouse models of Hermansky Pudlak syndrome: a review. 9585243 1998
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.210 Biomarker disease MGD Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. 9697856 1998
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.210 Biomarker disease MGD Mocha, a new coat color and behavior mutation on chromosome 10 of the mouse. 4448900 1975
CUI: C1842362
Disease: HERMANSKY-PUDLAK SYNDROME 2
HERMANSKY-PUDLAK SYNDROME 2 		0.200 Biomarker disease MGD Gravity receptor function in mice with graded otoconial deficiencies. 15109702 2004
CUI: C1842362
Disease: HERMANSKY-PUDLAK SYNDROME 2
HERMANSKY-PUDLAK SYNDROME 2 		0.200 Biomarker disease MGD Mouse models of Hermansky Pudlak syndrome: a review. 9585243 1998