Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8546
Gene name	Adaptor related protein complex 3 subunit beta 1
Gene symbol	AP3B1
Synonyms (NCBI Gene)	ADTB3ADTB3AHPSHPS2PE
Chromosome	5
Chromosome location	5q14.1
Summary	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding pro

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121908904	A>C	Pathogenic	Coding sequence variant, missense variant
rs121908905	T>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs121908906	G>A	Pathogenic	Stop gained, coding sequence variant
rs121908907	C>A	Pathogenic	Stop gained, coding sequence variant
rs146503597	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs869312835	G>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs869312836	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs869312837	C>A,G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs869312838	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554072100	GAAATTCTCGAAGAAGAGTTGATATGTTGGCTTCATTTGCCAAGTTTGTCAAAATTTCAAGCT>-	Pathogenic	Coding sequence variant, splice acceptor variant

185

Show/Hide all (185)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001387	hsa-miR-1-3p	pSILAC	18668040
MIRT006781	hsa-miR-9-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	22761433
MIRT006781	hsa-miR-9-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	22761433
MIRT001387	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT024966	hsa-miR-214-3p	Microarray;Other	19859982
MIRT046907	hsa-miR-221-3p	CLASH	23622248
MIRT039356	hsa-miR-421	CLASH	23622248
MIRT724608	hsa-miR-3664-5p	HITS-CLIP	19536157
MIRT724607	hsa-miR-16-2-3p	HITS-CLIP	19536157
MIRT724606	hsa-miR-195-3p	HITS-CLIP	19536157
MIRT724605	hsa-miR-4431	HITS-CLIP	19536157
MIRT724604	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT724603	hsa-miR-4522	HITS-CLIP	19536157
MIRT724602	hsa-miR-2116-5p	HITS-CLIP	19536157
MIRT724601	hsa-miR-22-5p	HITS-CLIP	19536157
MIRT724600	hsa-miR-2052	HITS-CLIP	19536157
MIRT724599	hsa-miR-19a-5p	HITS-CLIP	19536157
MIRT724598	hsa-miR-19b-1-5p	HITS-CLIP	19536157
MIRT724597	hsa-miR-19b-2-5p	HITS-CLIP	19536157
MIRT724596	hsa-miR-4273	HITS-CLIP	19536157
MIRT724595	hsa-miR-7156-5p	HITS-CLIP	19536157
MIRT724594	hsa-miR-4677-5p	HITS-CLIP	19536157
MIRT724593	hsa-miR-375	HITS-CLIP	19536157
MIRT724592	hsa-miR-6739-3p	HITS-CLIP	19536157
MIRT724591	hsa-miR-1305	HITS-CLIP	19536157
MIRT626882	hsa-miR-548ac	HITS-CLIP	23824327
MIRT626881	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT626880	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT626879	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT626878	hsa-miR-548z	HITS-CLIP	23824327
MIRT626877	hsa-miR-548aa	HITS-CLIP	23824327
MIRT626876	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT626875	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT626874	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT626873	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT724608	hsa-miR-3664-5p	HITS-CLIP	19536157
MIRT724607	hsa-miR-16-2-3p	HITS-CLIP	19536157
MIRT724606	hsa-miR-195-3p	HITS-CLIP	19536157
MIRT724605	hsa-miR-4431	HITS-CLIP	19536157
MIRT724604	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT724603	hsa-miR-4522	HITS-CLIP	19536157
MIRT724602	hsa-miR-2116-5p	HITS-CLIP	19536157
MIRT724601	hsa-miR-22-5p	HITS-CLIP	19536157
MIRT724600	hsa-miR-2052	HITS-CLIP	19536157
MIRT724599	hsa-miR-19a-5p	HITS-CLIP	19536157
MIRT724598	hsa-miR-19b-1-5p	HITS-CLIP	19536157
MIRT724597	hsa-miR-19b-2-5p	HITS-CLIP	19536157
MIRT724596	hsa-miR-4273	HITS-CLIP	19536157
MIRT724595	hsa-miR-7156-5p	HITS-CLIP	19536157
MIRT724594	hsa-miR-4677-5p	HITS-CLIP	19536157
MIRT724593	hsa-miR-375	HITS-CLIP	19536157
MIRT724592	hsa-miR-6739-3p	HITS-CLIP	19536157
MIRT724591	hsa-miR-1305	HITS-CLIP	19536157
MIRT626882	hsa-miR-548ac	HITS-CLIP	23824327
MIRT626881	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT626880	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT626879	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT626878	hsa-miR-548z	HITS-CLIP	23824327
MIRT626877	hsa-miR-548aa	HITS-CLIP	23824327
MIRT626876	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT626875	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT626874	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT626873	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT787833	hsa-miR-1246	CLIP-seq
MIRT787834	hsa-miR-1272	CLIP-seq
MIRT787835	hsa-miR-219-1-3p	CLIP-seq
MIRT787836	hsa-miR-335	CLIP-seq
MIRT787837	hsa-miR-4275	CLIP-seq
MIRT787838	hsa-miR-4320	CLIP-seq
MIRT787839	hsa-miR-4645-3p	CLIP-seq
MIRT787840	hsa-miR-4717-3p	CLIP-seq
MIRT787841	hsa-miR-4802-3p	CLIP-seq
MIRT787842	hsa-miR-490-5p	CLIP-seq
MIRT1932358	hsa-miR-199a-3p	CLIP-seq
MIRT1932359	hsa-miR-199b-3p	CLIP-seq
MIRT1932360	hsa-miR-23a	CLIP-seq
MIRT1932361	hsa-miR-23b	CLIP-seq
MIRT1932362	hsa-miR-23c	CLIP-seq
MIRT1932363	hsa-miR-3129-5p	CLIP-seq
MIRT1932364	hsa-miR-3681	CLIP-seq
MIRT1932365	hsa-miR-3691-5p	CLIP-seq
MIRT1932366	hsa-miR-4269	CLIP-seq
MIRT1932367	hsa-miR-4645-5p	CLIP-seq
MIRT1932368	hsa-miR-4673	CLIP-seq
MIRT1932369	hsa-miR-4699-5p	CLIP-seq
MIRT1932370	hsa-miR-4755-3p	CLIP-seq
MIRT1932371	hsa-miR-5096	CLIP-seq
MIRT2172696	hsa-miR-3919	CLIP-seq
MIRT2172697	hsa-miR-4436a	CLIP-seq
MIRT2475713	hsa-miR-1179	CLIP-seq
MIRT2475714	hsa-miR-1290	CLIP-seq
MIRT2475715	hsa-miR-153	CLIP-seq
MIRT1932360	hsa-miR-23a	CLIP-seq
MIRT1932361	hsa-miR-23b	CLIP-seq
MIRT1932362	hsa-miR-23c	CLIP-seq
MIRT2475716	hsa-miR-2467-3p	CLIP-seq
MIRT2475717	hsa-miR-25	CLIP-seq
MIRT2475718	hsa-miR-3133	CLIP-seq
MIRT2475719	hsa-miR-3140-3p	CLIP-seq
MIRT2475720	hsa-miR-3149	CLIP-seq
MIRT2475721	hsa-miR-3153	CLIP-seq
MIRT2475722	hsa-miR-3167	CLIP-seq
MIRT2475723	hsa-miR-32	CLIP-seq
MIRT2475724	hsa-miR-3202	CLIP-seq
MIRT2475725	hsa-miR-329	CLIP-seq
MIRT2475726	hsa-miR-330-3p	CLIP-seq
MIRT787836	hsa-miR-335	CLIP-seq
MIRT2475727	hsa-miR-338-5p	CLIP-seq
MIRT2475728	hsa-miR-340	CLIP-seq
MIRT2475729	hsa-miR-362-3p	CLIP-seq
MIRT2475730	hsa-miR-363	CLIP-seq
MIRT2475731	hsa-miR-3646	CLIP-seq
MIRT2475732	hsa-miR-367	CLIP-seq
MIRT2475733	hsa-miR-3678-3p	CLIP-seq
MIRT2475734	hsa-miR-3714	CLIP-seq
MIRT2475735	hsa-miR-3941	CLIP-seq
MIRT787837	hsa-miR-4275	CLIP-seq
MIRT2475736	hsa-miR-4422	CLIP-seq
MIRT2475737	hsa-miR-448	CLIP-seq
MIRT2475738	hsa-miR-4501	CLIP-seq
MIRT2475739	hsa-miR-4509	CLIP-seq
MIRT2475740	hsa-miR-4533	CLIP-seq
MIRT787839	hsa-miR-4645-3p	CLIP-seq
MIRT2475741	hsa-miR-4695-3p	CLIP-seq
MIRT2475742	hsa-miR-4704-5p	CLIP-seq
MIRT2475743	hsa-miR-4716-3p	CLIP-seq
MIRT2475744	hsa-miR-4722-5p	CLIP-seq
MIRT2475745	hsa-miR-4744	CLIP-seq
MIRT2475746	hsa-miR-4766-3p	CLIP-seq
MIRT2475747	hsa-miR-4768-3p	CLIP-seq
MIRT2475748	hsa-miR-4795-3p	CLIP-seq
MIRT2475749	hsa-miR-4799-5p	CLIP-seq
MIRT2475750	hsa-miR-488	CLIP-seq
MIRT1932371	hsa-miR-5096	CLIP-seq
MIRT2475751	hsa-miR-548an	CLIP-seq
MIRT2475752	hsa-miR-548l	CLIP-seq
MIRT2475753	hsa-miR-548n	CLIP-seq
MIRT2475754	hsa-miR-548p	CLIP-seq
MIRT2475755	hsa-miR-603	CLIP-seq
MIRT2475756	hsa-miR-625	CLIP-seq
MIRT2475757	hsa-miR-630	CLIP-seq
MIRT2475758	hsa-miR-659	CLIP-seq
MIRT2475759	hsa-miR-876-5p	CLIP-seq
MIRT2475760	hsa-miR-9	CLIP-seq
MIRT2475761	hsa-miR-92a	CLIP-seq
MIRT2475762	hsa-miR-92b	CLIP-seq
MIRT2475713	hsa-miR-1179	CLIP-seq
MIRT2475715	hsa-miR-153	CLIP-seq
MIRT2475717	hsa-miR-25	CLIP-seq
MIRT2475721	hsa-miR-3153	CLIP-seq
MIRT2475723	hsa-miR-32	CLIP-seq
MIRT2475724	hsa-miR-3202	CLIP-seq
MIRT2475725	hsa-miR-329	CLIP-seq
MIRT2475726	hsa-miR-330-3p	CLIP-seq
MIRT787836	hsa-miR-335	CLIP-seq
MIRT2475728	hsa-miR-340	CLIP-seq
MIRT2475729	hsa-miR-362-3p	CLIP-seq
MIRT2475730	hsa-miR-363	CLIP-seq
MIRT2475731	hsa-miR-3646	CLIP-seq
MIRT2475732	hsa-miR-367	CLIP-seq
MIRT2475734	hsa-miR-3714	CLIP-seq
MIRT2475735	hsa-miR-3941	CLIP-seq
MIRT2475736	hsa-miR-4422	CLIP-seq
MIRT2475737	hsa-miR-448	CLIP-seq
MIRT2475739	hsa-miR-4509	CLIP-seq
MIRT2475740	hsa-miR-4533	CLIP-seq
MIRT787839	hsa-miR-4645-3p	CLIP-seq
MIRT2475742	hsa-miR-4704-5p	CLIP-seq
MIRT2475743	hsa-miR-4716-3p	CLIP-seq
MIRT2475744	hsa-miR-4722-5p	CLIP-seq
MIRT2475745	hsa-miR-4744	CLIP-seq
MIRT2475746	hsa-miR-4766-3p	CLIP-seq
MIRT2475747	hsa-miR-4768-3p	CLIP-seq
MIRT2475748	hsa-miR-4795-3p	CLIP-seq
MIRT2475749	hsa-miR-4799-5p	CLIP-seq
MIRT2475750	hsa-miR-488	CLIP-seq
MIRT2475751	hsa-miR-548an	CLIP-seq
MIRT2475752	hsa-miR-548l	CLIP-seq
MIRT2475754	hsa-miR-548p	CLIP-seq
MIRT2475755	hsa-miR-603	CLIP-seq
MIRT2475756	hsa-miR-625	CLIP-seq
MIRT2475758	hsa-miR-659	CLIP-seq
MIRT2475760	hsa-miR-9	CLIP-seq
MIRT2475761	hsa-miR-92a	CLIP-seq
MIRT2475762	hsa-miR-92b	CLIP-seq

Show/Hide all (63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0002224	Process	Toll-like receptor signaling pathway	IEA
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0003016	Process	Respiratory system process	IEA
GO:0005515	Function	Protein binding	IPI	19934039, 24725412, 27424887, 32814053
GO:0005739	Component	Mitochondrion	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005769	Component	Early endosome	NAS	23247405
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	TAS	9151686
GO:0006605	Process	Protein targeting	IEA
GO:0006622	Process	Protein targeting to lysosome	IEA
GO:0006882	Process	Intracellular zinc ion homeostasis	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006886	Process	Intracellular protein transport	TAS	9931340
GO:0006954	Process	Inflammatory response	IEA
GO:0007040	Process	Lysosome organization	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0008089	Process	Anterograde axonal transport	IEA
GO:0008089	Process	Anterograde axonal transport	ISS
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	NAS	23247405
GO:0019882	Process	Antigen processing and presentation	IEA
GO:0019903	Function	Protein phosphatase binding	IPI	17622474
GO:0030117	Component	Membrane coat	IEA
GO:0030123	Component	AP-3 adaptor complex	IEA
GO:0030123	Component	AP-3 adaptor complex	NAS	9151686
GO:0030131	Component	Clathrin adaptor complex	IEA
GO:0030324	Process	Lung development	IEA
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0030742	Function	GTP-dependent protein binding	IPI	22511774
GO:0030851	Process	Granulocyte differentiation	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032438	Process	Melanosome organization	IEA
GO:0032438	Process	Melanosome organization	IMP	11452004, 19841138
GO:0034394	Process	Protein localization to cell surface	IEA
GO:0035654	Process	Clathrin-coated vesicle cargo loading, AP-3-mediated	NAS	9545220
GO:0036211	Process	Protein modification process	IEA
GO:0042789	Process	MRNA transcription by RNA polymerase II	IEA
GO:0043473	Process	Pigmentation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048007	Process	Antigen processing and presentation, exogenous lipid antigen via MHC class Ib	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:0048872	Process	Homeostasis of number of cells	IEA
GO:0051138	Process	Positive regulation of NK T cell differentiation	IEA
GO:0060155	Process	Platelet dense granule organization	IEA
GO:0060155	Process	Platelet dense granule organization	NAS	23247405
GO:0060425	Process	Lung morphogenesis	IEA
GO:0061024	Process	Membrane organization	IEA
GO:0090152	Process	Establishment of protein localization to mitochondrial membrane involved in mitochondrial fission	IEA
GO:0098773	Process	Skin epidermis development	IEA
GO:1903232	Process	Melanosome assembly	NAS	23247405
GO:1904115	Component	Axon cytoplasm	IEA
GO:1990742	Component	Microvesicle	IEA

MIM	HGNC	e!Ensembl
603401	566	ENSG00000132842

O00203

Protein name

AP-3 complex subunit beta-1 (Adaptor protein complex AP-3 subunit beta-1) (Adaptor-related protein complex 3 subunit beta-1) (Beta-3A-adaptin) (Clathrin assembly protein complex 3 beta-1 large chain)

Protein function

Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to mem

PDB

9C58 , 9C59 , 9C5A , 9C5B , 9C5C

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01602	Adaptin_N	39 → 584	Adaptin N terminal region	Family
PF14797	SEEEED	671 → 801	Serine-rich region of AP3B1, clathrin-adaptor complex	Family
PF14796	AP3B1_C	813 → 958	Clathrin-adaptor complex-3 beta-1 subunit C-terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:9151686, ECO:0000269|PubMed:9182526}.

Sequence

MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKL
DAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTF
QRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSL
DPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWG
QVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLL
IRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATM
SIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQF
AAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEII
KHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLG
AKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLA
QKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEW
TPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDS
SSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSS
DSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSP
SLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMV
SIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTA
SFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPS
VIFQKVVNVANVGAVPSGQDNIHRFAAKTVHSGSLMLVTVELKEGSTAQLIINTEKTVIG
SVLLRELKPVLSQG

Sequence length

1094

Interactions

View interactions

	KEGG		Reactome
	Lysosome		Golgi Associated Vesicle Biogenesis Signaling by BRAF and RAF fusions

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)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AP3B1-related disorder	Likely pathogenic	rs1746249107	RCV003408551	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autoinflammatory syndrome	Pathogenic	rs869312838	RCV002261009	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hermansky-Pudlak syndrome	Likely pathogenic	rs2531000996, rs2531000611	RCV002281855 RCV002510367	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hermansky-Pudlak syndrome 2	Pathogenic; Likely pathogenic	rs2112100310, rs1753129765, rs2112518616, rs2112300864, rs2112100189, rs2112100217, rs1744118616, rs2112100020, rs2112357253, rs1746480237, rs2531000611, rs2531000994, rs2531190870, rs2531076982, rs121908904 View all (42 more)	RCV001385072 RCV001383893 RCV001947877 RCV002042734 RCV002007241 View all (52 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (30)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormal bleeding	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined immunodeficiency	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKI-PUDLAK SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKY PUDLAK SYNDROME 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKY-PUDLAK SYNDROME DUE TO AP3B1 DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES, INTERSTITIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (69)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	27761583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	BEFREE	11809908, 24766090, 25312756, 27647118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	25312756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	BEFREE	16550546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	16550546, 19523149, 19679886, 23215637, 23364476, 25312756, 31820501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	LHGDN	16551969		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	33953791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	25918132		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Disease	Bartter syndrome	BEFREE	10906158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bartter syndrome, type 3	Bartter syndrome	BEFREE	10906158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	30582661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	31820501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30140154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26547929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	BEFREE	10094567, 23403622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21641392, 29213343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	28833992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Griscelli syndrome type 1	Griscelli syndrome	Pubtator	16551969	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophagocytic Syndrome	Hemophagocytic Syndrome	BEFREE	28497365, 31072325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	24302998	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic disease	Pubtator	30630984	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	10094567, 10841946, 11452004, 11809908, 12049721, 12847290, 15632015, 16537806, 16551969, 17053055, 19679886, 23215637, 23403622, 23557002, 23893484 View all (10 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	LHGDN	12125811, 16551969		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	GENOMICS_ENGLAND_DG	14566336		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermansky Pudlak syndrome 2	Hermansky-pudlak syndrome	Pubtator	11590544, 16537806, 19679886, 23215637, 23557002, 24302998, 27889060, 30630984, 34182253	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKY-PUDLAK SYNDROME 2	Hermansky-Pudlak Syndrome	UNIPROT_DG	10024875		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HERMANSKY-PUDLAK SYNDROME 2	Hermansky-Pudlak Syndrome	GENOMICS_ENGLAND_DG	10024875, 11590544, 14566336, 16551969, 26684649, 28585318		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HERMANSKY-PUDLAK SYNDROME 2	Hermansky-Pudlak Syndrome	BEFREE	11590544, 11592818, 23215637, 23557002		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HERMANSKY-PUDLAK SYNDROME 2	Hermansky-Pudlak Syndrome	ORPHANET_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HERMANSKY-PUDLAK SYNDROME 2	Hermansky-Pudlak Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HERMANSKY-PUDLAK SYNDROME 2	Hermansky-Pudlak Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HERMANSKY-PUDLAK SYNDROME 3	Hermansky-Pudlak Syndrome	BEFREE	12442288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermansky-Pudlak syndrome with neutropenia	Hermansky-Pudlak Syndrome With Neutropenia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	24302998	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	15632015, 25160823, 25312756, 31776394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopigmentation-immunodeficiency disease	Hypopigmentation-Immunodeficiency Disease	BEFREE	16550546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31776394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	11809908, 16551969, 19679886, 28585318, 29580292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG	10024875		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	22009278, 29580292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	22009278, 23753089		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	25312756, 28270454, 30899265, 33867526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	LHGDN	16551969		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	23403622, 25980904, 31072325, 31820501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	24302998	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30140154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	10906158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	11809908, 16551969, 19679886, 28585318, 29580292		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	Pubtator	16551969, 30630984	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	GWASCAT_DG	30664745		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Platelet Storage Pool Deficiency	Platelet Storage Pool Deficiency	BEFREE	31820501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	GENOMICS_ENGLAND_DG	10024875		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	22009278, 27529121		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1B	Usher Syndrome	BEFREE	16550546		★★★★★ ★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IB (disorder)	Usher Syndrome	BEFREE	16550546		★★★★★ ★☆☆☆☆ Found in Text Mining only

AP3B1 (adaptor related protein complex 3 subunit beta 1)