DTNBP1, dystrobrevin binding protein 1, 84062

N. diseases: 93; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279756
Disease: HERMANSKY-PUDLAK SYNDROME 7
HERMANSKY-PUDLAK SYNDROME 7 		0.800 CausalMutation disease CLINVAR
CUI: C3279756
Disease: HERMANSKY-PUDLAK SYNDROME 7
HERMANSKY-PUDLAK SYNDROME 7 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.610 Biomarker disease CTD_human
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0001916
Disease: Albinism
Albinism 		0.100 Biomarker disease HPO
CUI: C0014591
Disease: Epistaxis
Epistaxis 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		0.100 Biomarker disease HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.100 Biomarker phenotype HPO
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		0.100 Biomarker phenotype HPO
CUI: C1855853
Disease: Impaired platelet aggregation
Impaired platelet aggregation 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 		0.100 CausalMutation disease CLINVAR
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C3279756
Disease: HERMANSKY-PUDLAK SYNDROME 7
HERMANSKY-PUDLAK SYNDROME 7 		0.800 Biomarker disease MGD Sandy: a new mouse model for platelet storage pool deficiency. 1936982 1991
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.210 Biomarker disease MGD Sandy: a new mouse model for platelet storage pool deficiency. 1936982 1991
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.600 GeneticVariation disease BEFREE In this region, single-nucleotide polymorphisms within the 140-kb gene DTNBP1 (dystrobrevin-binding protein 1, or dysbindin) are strongly associated with schizophrenia. 12098102 2002
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.600 GeneticVariation disease LHGDN In this region, single-nucleotide polymorphisms within the 140-kb gene DTNBP1 (dystrobrevin-binding protein 1, or dysbindin) are strongly associated with schizophrenia. 12098102 2002
CUI: C3279756
Disease: HERMANSKY-PUDLAK SYNDROME 7
HERMANSKY-PUDLAK SYNDROME 7 		0.800 Biomarker disease GENOMICS_ENGLAND Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). 12923531 2003
CUI: C3279756
Disease: HERMANSKY-PUDLAK SYNDROME 7
HERMANSKY-PUDLAK SYNDROME 7 		0.800 GermlineCausalMutation disease ORPHANET Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). 12923531 2003
CUI: C3279756
Disease: HERMANSKY-PUDLAK SYNDROME 7
HERMANSKY-PUDLAK SYNDROME 7 		0.800 Biomarker disease MGD Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). 12923531 2003
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.610 GeneticVariation disease BEFREE Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). 12923531 2003
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.600 GeneticVariation disease LHGDN Our results suggest that genetic variation in the dysbindin gene is particularly involved in the development of schizophrenia in cases with a familial loading of the disease. 14618545 2003
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.600 GeneticVariation disease BEFREE Several disposition genes for schizophrenia (DTNBP1, NRG1, G72) were identified, whereas evidence for specific disposition genes in bipolar disorder is more limited. 14677079 2003
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.600 GeneticVariation disease LHGDN Support for association of schizophrenia with genetic variation in the 6p22.3 gene, dysbindin, in sib-pair families with linkage and in an additional sample of triad families. 12474144 2003