DTNBP1 (dystrobrevin binding protein 1)

Gene

• Entrez ID: 84062
• Gene name: Dystrobrevin binding protein 1
• Gene symbol: DTNBP1
• Synonyms (NCBI Gene): BLOC1S8, DBND, HPS7, My031, SDY
• Chromosome: 6
• Chromosome location: 6p22.3
• Summary: This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles c

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893945	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs727502866	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs752074481	CTCT>-,CT	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT946763	hsa-miR-1229	CLIP-seq
MIRT946764	hsa-miR-342-3p	CLIP-seq
MIRT946765	hsa-miR-377	CLIP-seq
MIRT946766	hsa-miR-1207-5p	CLIP-seq
MIRT946767	hsa-miR-135a	CLIP-seq
MIRT946768	hsa-miR-135b	CLIP-seq
MIRT946769	hsa-miR-2113	CLIP-seq
MIRT946770	hsa-miR-3119	CLIP-seq
MIRT946771	hsa-miR-3179	CLIP-seq
MIRT946772	hsa-miR-3611	CLIP-seq
MIRT946773	hsa-miR-4641	CLIP-seq
MIRT946774	hsa-miR-4698	CLIP-seq
MIRT946775	hsa-miR-4736	CLIP-seq
MIRT946776	hsa-miR-4763-3p	CLIP-seq
MIRT946777	hsa-miR-488	CLIP-seq
MIRT946778	hsa-miR-758	CLIP-seq
MIRT1980381	hsa-miR-4760-3p	CLIP-seq
MIRT2519855	hsa-miR-182	CLIP-seq
MIRT946770	hsa-miR-3119	CLIP-seq
MIRT2519856	hsa-miR-3163	CLIP-seq
MIRT2519857	hsa-miR-3180-5p	CLIP-seq
MIRT946765	hsa-miR-377	CLIP-seq
MIRT2519858	hsa-miR-380	CLIP-seq
MIRT2519859	hsa-miR-3924	CLIP-seq
MIRT2519860	hsa-miR-4495	CLIP-seq
MIRT2519861	hsa-miR-490-3p	CLIP-seq
MIRT2519862	hsa-miR-548b-3p	CLIP-seq
MIRT2519863	hsa-miR-548c-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0001956	Process	Positive regulation of neurotransmitter secretion	IEA
GO:0001956	Process	Positive regulation of neurotransmitter secretion	ISS
GO:0002092	Process	Positive regulation of receptor internalization	IEA
GO:0005515	Function	Protein binding	IPI	15102850, 17043677, 19142223, 19349376, 20921223, 22203680, 23414517, 25416956, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0007613	Process	Memory	IEA
GO:0008089	Process	Anterograde axonal transport	IEA
GO:0008089	Process	Anterograde axonal transport	ISS
GO:0009966	Process	Regulation of signal transduction	IBA
GO:0010008	Component	Endosome membrane	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0014059	Process	Regulation of dopamine secretion	IEA
GO:0014059	Process	Regulation of dopamine secretion	ISS
GO:0014069	Component	Postsynaptic density	IDA	16980328
GO:0014069	Component	Postsynaptic density	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0016528	Component	Sarcoplasm	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0030496	Component	Midbody	IDA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IDA	16980328
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	ISS
GO:0031083	Component	BLOC-1 complex	IBA
GO:0031083	Component	BLOC-1 complex	IDA	15102850, 22203680
GO:0031083	Component	BLOC-1 complex	IEA
GO:0031083	Component	BLOC-1 complex	IPI	22203680
GO:0031175	Process	Neuron projection development	IBA
GO:0031175	Process	Neuron projection development	IDA	16980328
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032279	Component	Asymmetric synapse	IEA
GO:0032438	Process	Melanosome organization	NAS	15102850, 22203680
GO:0033162	Component	Melanosome membrane	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0042383	Component	Sarcolemma	ISS
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	IDA	16980328
GO:0043025	Component	Neuronal cell body	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0043197	Component	Dendritic spine	ISS
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048490	Process	Anterograde synaptic vesicle transport	IBA
GO:0048490	Process	Anterograde synaptic vesicle transport	IEA
GO:0048490	Process	Anterograde synaptic vesicle transport	ISS
GO:0048812	Process	Neuron projection morphogenesis	IEA
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060155	Process	Platelet dense granule organization	IBA
GO:0060155	Process	Platelet dense granule organization	IEA
GO:0060159	Process	Regulation of dopamine receptor signaling pathway	IEA
GO:0060159	Process	Regulation of dopamine receptor signaling pathway	ISS
GO:0060271	Process	Cilium assembly	IEA
GO:0061002	Process	Negative regulation of dendritic spine morphogenesis	IEA
GO:0061646	Process	Positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization	IEA
GO:0071806	Process	Protein transmembrane transport	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1904115	Component	Axon cytoplasm	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IBA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

Other IDs

• MIM: 607145
• HGNC: 17328
• e!Ensembl: ENSG00000047579

Protein

• UniProt ID: Q96EV8
• Protein name: Dysbindin (Biogenesis of lysosome-related organelles complex 1 subunit 8) (BLOC-1 subunit 8) (Dysbindin-1) (Dystrobrevin-binding protein 1) (Hermansky-Pudlak syndrome 7 protein) (HPS7 protein)
• Protein function: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target m
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04440	Dysbindin	175 → 320	Dysbindin (Dystrobrevin binding protein 1)	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in brain, in neurons and in neuropil. Isoform 1 is expressed in the cerebral cortex, and hippocampal frontal (HF). Specific expression in the posterior half of the superior temporal gyrus (pSTG). Higher expression of isoform 2
• Sequence:

  MLETLRERLLSVQQDFTSGLKTLSDKSREAKVKSKPRTVPFLPKYSAGLELLSRYEDTWA
  ALHRRAKDCASAGELVDSEVVMLSAHWEKKKTSLVELQEQLQQLPALIADLESMTANLTH
  LEASFEEVENNLLHLEDLCGQCELERCKHMQSQQLENYKKNKRKELETFKAELDAEHAQK
  VLEMEHTQQMKLKERQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQ
  MDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEITLQVPNPSELRAKPPSSSS
  TCTDSATRDISEGGESPVVQSDEEEVQVDTALATSHTDREATPDGGEDSDS

• Sequence length: 351

Pathways

Reactome:

Golgi Associated Vesicle Biogenesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
DTNBP1-related disorder	Likely pathogenic; Pathogenic	rs367702294, rs1772009067	RCV003420788 RCV003418821	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hermansky-Pudlak syndrome	Likely pathogenic; Pathogenic	rs746781620	RCV002282931	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hermansky-Pudlak syndrome 7	Likely pathogenic; Pathogenic	rs757126788, rs2127784434, rs727502866, rs104893945	RCV005045112 RCV002272733 RCV000150041 RCV000003601	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKI-PUDLAK SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKY-PUDLAK SYNDROME DUE TO BLOC-1 DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interstitial lung disease 2	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Likely benign; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORY PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MAJOR DEPRESSION WITH PSYCHOTIC FEATURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Affective Disorders, Psychotic	Affective Psychosis	BEFREE	25530342		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	35488210	Associate	★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	28259707	Inhibit	★☆☆☆☆ Found in Text Mining only
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	28259707		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29040676		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	18797396, 19729970, 20615259, 30967545, 31556815		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	18797396, 19729970, 20615259, 30967545, 31556815		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	20615259	Associate	★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	BEFREE	18162312		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	20846375, 22911901		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	20846375, 22911901		★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	CTD_human_DG	25298178		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	14677079, 15820225, 16946192, 17410640, 17433541, 18234478, 19089808, 26285059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	16380905	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	18180429, 18234478, 19089808, 19573260, 21305691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	BEFREE	17192893, 17433541		★☆☆☆☆ Found in Text Mining only
Bipolar II disorder	Bipolar Disorder	BEFREE	17433541		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	27091610		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	27091610	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34997064	Stimulate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	17074466	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	19497374, 19617633, 26873854, 29227583, 31201475		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	17074466	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	18797396, 19729970, 20822372		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	18797396, 19729970, 20822372, 23512949		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	20199207		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	25697573		★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	12923531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	CLINVAR_DG	31064749		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKY-PUDLAK SYNDROME 7	Hermansky-Pudlak Syndrome	GENOMICS_ENGLAND_DG	12923531, 28259707		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HERMANSKY-PUDLAK SYNDROME 7	Hermansky-Pudlak Syndrome	ORPHANET_DG	12923531		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HERMANSKY-PUDLAK SYNDROME 7	Hermansky-Pudlak Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hermansky-Pudlak syndrome type 7	Hermansky-Pudlak Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	16513878, 17074466, 19353385, 19497374, 19617633, 19782967, 21840749, 26873854, 27421225, 27439747, 27798936, 28855126, 29227583, 31201475		★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2H	Sarcotubular myopathy	BEFREE	19349376		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	16946192, 19089808		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	16946192, 19089808		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	16946192, 19089808		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	16946192, 19089808		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	16946192, 19089808		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	16946192, 19089808		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	16946192, 19089808		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	15274041, 17964051, 19065121, 20822372, 20951386, 25595671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	15274041, 17964051, 19065121, 20822372, 20951386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malnutrition	Malnutrition	BEFREE	28344592		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	18162312		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	19794403	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	18797396, 19729970, 20822372		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	18797396, 19729970, 20822372, 23512949		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	17555717, 17964051, 20615259, 25595671, 25697573		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	CTD_human_DG	25298178		★☆☆☆☆ Found in Text Mining only
Mental Disorders, Severe	Mental Disorders	CTD_human_DG	25298178		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	18797396		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	15274041, 19065121, 20951386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	15274041, 19065121, 20951386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	20199207, 28855126		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29040676		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	19965435		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19142223, 25196196		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	24713699, 25972187, 28344592		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	20199207		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	18797396		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	15820225, 16538225, 17555717, 18162312, 19482054, 19573260, 21305691		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	29040676		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	25303981		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31539139		★☆☆☆☆ Found in Text Mining only
Platelet Storage Pool Deficiency	Platelet Storage Pool Deficiency	BEFREE	28259707		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	20615259		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	15820225, 16538225, 17555717, 18162312, 19482054, 19573260, 21305691, 25303981		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	LHGDN	17433541		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	22580710	Associate	★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	15362017, 16415041, 17433541, 23512949		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12098102, 12474144, 12591580, 12808430, 12952866, 14618545, 14677079, 15066891, 15091311, 15121479, 15124015, 15124027, 15184234, 15211634, 15248869, 15274041, 15331232, 15345706, 15362017, 15374586, 15700048, 15744031, 15820225, 15917270, 16044171, 16133786, 16166606, 16199828, 16283082, 16407900, 16415041, 16513878, 16538225, 16612196, 16640117, 16701550, 16876895, 16899160, 16930638, 16946192, 16959423, 16967465, 17033966, 17043677, 17055463, 17074466, 17185511, 17192893, 17290445, 17300918, 17336946, 17407805, 17408693, 17410640, 17433541, 17476109, 17555717, 17604607, 17618940, 17825267, 17945199, 17961984, 17964051, 17982252, 17989303, 18162312, 18182443, 18234478, 18314870, 18473158, 18474212, 18520162, 18562100, 18698228, 18774265, 18797396, 18804346, 19089808, 19094965, 19132710, 19142223, 19252939, 19335929, 19349376, 19353385, 19369910, 19370154, 19439994, 19449336, 19475563, 19481122, 19482054, 19496996, 19497374, 19573021, 19617633, 19631276, 19650139, 19729970, 19760674, 19782967, 19794403, 19800201, 19859905, 19862852, 19965435, 19996605, 20010894, 20083391, 20180862, 20236384, 20615259, 20615671, 20921223, 20951386, 21130223, 21145444, 21184829, 21305691, 21504412, 21512575, 21520000, 21557953, 21986877, 22019876, 22049342, 22423091, 22580710, 22584233, 22771711, 22911901, 23497497, 23512949, 23567519, 23778016, 24713699, 24988482, 25042954, 25196196, 25330739, 25530342, 25595671, 25697573, 25704251, 25972187, 26171858, 26285059, 26873854, 27130439, 27330059, 27421225, 27798936, 27855309, 27927957, 27986973, 28344592, 28937620, 29040676, 29227583, 29348419, 29759351, 30062698, 30230404, 30252773, 30967545, 31201475, 31492942, 31556815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	12098102, 12474144, 12808430, 14618545, 15066891, 15121479, 15124015, 15124027, 15211634, 15362017, 15917270, 16044171, 16930638, 17033966, 17290445, 17336946, 17408693, 17961984, 18162312, 18516516, 18797396		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	16380905, 17074466, 17410640, 17825267, 18804346, 19475563, 19496996, 19794403, 20615259, 22580710, 25333879	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	18583979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	19142223	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe major depression with psychotic features	Mental Depression With Psychotic Features	BEFREE	20951386, 23512949, 25697573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe major depression with psychotic features	Mental Depression With Psychotic Features	PSYGENET_DG	20951386, 23512949		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shared Paranoid Disorder	Shared Paranoid Disorder	BEFREE	17555717, 25303981		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	GWASCAT_DG	31174203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	15274041, 17964051, 19065121, 25595671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	15274041, 17964051, 19065121, 20822372, 20951386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vision Disorders	Visual disorder	Pubtator	19794403	Associate	★☆☆☆☆ Found in Text Mining only