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	10483
Gene name	SEC23 homolog B, COPII component
Gene symbol	SEC23B
Synonyms (NCBI Gene)	CDA-IICDAIICDAN2CWS7HEMPAShSec23B
Chromosome	20
Chromosome location	20p11.23
Summary	The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible f

Show/Hide all (23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs6045440	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs121918221	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918222	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918223	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918224	C>T	Pathogenic	Stop gained, coding sequence variant
rs121918225	C>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs121918226	C>T	Pathogenic	Stop gained, coding sequence variant
rs138314893	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs199939108	C>T	Pathogenic	Coding sequence variant, stop gained
rs368458175	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs398124225	C>T	Pathogenic	Coding sequence variant, missense variant
rs398124226	G>A,C	Pathogenic	Splice donor variant
rs398124227	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs534770840	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs727504145	C>T	Pathogenic	Coding sequence variant, missense variant
rs752366963	T>G	Pathogenic	Coding sequence variant, missense variant
rs1216879587	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555788144	CAAGGATT>A	Pathogenic	Coding sequence variant, frameshift variant
rs1555789463	G>A	Likely-pathogenic	Intron variant
rs1568606490	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568617456	C>T	Pathogenic	Stop gained, coding sequence variant
rs1600244935	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1600288964	C>A	Likely-pathogenic	Coding sequence variant, missense variant

176

Show/Hide all (176)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020211	hsa-miR-130b-3p	Sequencing	20371350
MIRT024934	hsa-miR-215-5p	Microarray	19074876
MIRT026508	hsa-miR-192-5p	Microarray	19074876
MIRT031137	hsa-miR-19b-3p	Sequencing	20371350
MIRT032362	hsa-let-7b-5p	Proteomics	18668040
MIRT663627	hsa-miR-519a-3p	HITS-CLIP	23824327
MIRT663626	hsa-miR-519b-3p	HITS-CLIP	23824327
MIRT663625	hsa-miR-519c-3p	HITS-CLIP	23824327
MIRT663624	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT663623	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT663622	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT663621	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT663620	hsa-miR-302e	HITS-CLIP	23824327
MIRT663619	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT663618	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT663617	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT663616	hsa-miR-520b	HITS-CLIP	23824327
MIRT663615	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT663614	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT663613	hsa-miR-520e	HITS-CLIP	23824327
MIRT663612	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT663611	hsa-miR-1913	HITS-CLIP	23824327
MIRT663610	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT663609	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT663608	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT569677	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT569676	hsa-miR-1285-5p	HITS-CLIP	23824327
MIRT569675	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT569673	hsa-miR-5693	HITS-CLIP	23824327
MIRT569674	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT569672	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT647098	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT647097	hsa-miR-3135b	HITS-CLIP	23824327
MIRT647096	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT647095	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT647093	hsa-miR-3652	HITS-CLIP	23824327
MIRT647094	hsa-miR-4430	HITS-CLIP	23824327
MIRT647092	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT569671	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT647090	hsa-miR-5698	HITS-CLIP	23824327
MIRT083163	hsa-miR-8080	PAR-CLIP	20371350
MIRT083155	hsa-miR-590-3p	PAR-CLIP	20371350
MIRT083152	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT020211	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT083153	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT083158	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT083160	hsa-miR-3666	PAR-CLIP	20371350
MIRT083159	hsa-miR-4295	PAR-CLIP	20371350
MIRT083156	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT544706	hsa-miR-4696	PAR-CLIP	20371350
MIRT083162	hsa-miR-4775	PAR-CLIP	20371350
MIRT083161	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT569677	hsa-miR-216a-5p	PAR-CLIP	20371350
MIRT569676	hsa-miR-1285-5p	PAR-CLIP	20371350
MIRT569675	hsa-miR-6890-3p	PAR-CLIP	20371350
MIRT569673	hsa-miR-5693	PAR-CLIP	20371350
MIRT569674	hsa-miR-1304-3p	PAR-CLIP	20371350
MIRT569672	hsa-miR-4772-3p	PAR-CLIP	20371350
MIRT569671	hsa-miR-891a-3p	PAR-CLIP	20371350
MIRT083163	hsa-miR-8080	PAR-CLIP	21572407
MIRT083155	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT083152	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT020211	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT083153	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT083158	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT083160	hsa-miR-3666	PAR-CLIP	21572407
MIRT083159	hsa-miR-4295	PAR-CLIP	21572407
MIRT083156	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT544707	hsa-miR-6759-3p	PAR-CLIP	21572407
MIRT544706	hsa-miR-4696	PAR-CLIP	21572407
MIRT083162	hsa-miR-4775	PAR-CLIP	21572407
MIRT083161	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT083154	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT083157	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT569676	hsa-miR-1285-5p	PAR-CLIP	27292025
MIRT569676	hsa-miR-1285-5p	PAR-CLIP	27292025
MIRT569674	hsa-miR-1304-3p	PAR-CLIP	27292025
MIRT569674	hsa-miR-1304-3p	PAR-CLIP	27292025
MIRT569677	hsa-miR-216a-5p	PAR-CLIP	27292025
MIRT569677	hsa-miR-216a-5p	PAR-CLIP	27292025
MIRT569672	hsa-miR-4772-3p	PAR-CLIP	27292025
MIRT569672	hsa-miR-4772-3p	PAR-CLIP	27292025
MIRT569673	hsa-miR-5693	PAR-CLIP	27292025
MIRT569675	hsa-miR-6890-3p	PAR-CLIP	27292025
MIRT569675	hsa-miR-6890-3p	PAR-CLIP	27292025
MIRT569671	hsa-miR-891a-3p	PAR-CLIP	27292025
MIRT569671	hsa-miR-891a-3p	PAR-CLIP	27292025
MIRT663627	hsa-miR-519a-3p	HITS-CLIP	23824327
MIRT663626	hsa-miR-519b-3p	HITS-CLIP	23824327
MIRT663625	hsa-miR-519c-3p	HITS-CLIP	23824327
MIRT663624	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT663623	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT663622	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT663621	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT663620	hsa-miR-302e	HITS-CLIP	23824327
MIRT663619	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT663618	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT663617	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT663616	hsa-miR-520b	HITS-CLIP	23824327
MIRT663615	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT663614	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT663613	hsa-miR-520e	HITS-CLIP	23824327
MIRT663612	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT663611	hsa-miR-1913	HITS-CLIP	23824327
MIRT663610	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT663609	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT663608	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT569677	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT569676	hsa-miR-1285-5p	HITS-CLIP	23824327
MIRT569675	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT569673	hsa-miR-5693	HITS-CLIP	23824327
MIRT569674	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT569672	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT647098	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT647097	hsa-miR-3135b	HITS-CLIP	23824327
MIRT647096	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT647095	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT647093	hsa-miR-3652	HITS-CLIP	23824327
MIRT647094	hsa-miR-4430	HITS-CLIP	23824327
MIRT647092	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT569671	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT647090	hsa-miR-5698	HITS-CLIP	23824327
MIRT083163	hsa-miR-8080	PAR-CLIP	20371350
MIRT083155	hsa-miR-590-3p	PAR-CLIP	20371350
MIRT083152	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT020211	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT083153	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT083158	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT083160	hsa-miR-3666	PAR-CLIP	20371350
MIRT083159	hsa-miR-4295	PAR-CLIP	20371350
MIRT083156	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT544706	hsa-miR-4696	PAR-CLIP	20371350
MIRT083162	hsa-miR-4775	PAR-CLIP	20371350
MIRT083161	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT569677	hsa-miR-216a-5p	PAR-CLIP	20371350
MIRT569676	hsa-miR-1285-5p	PAR-CLIP	20371350
MIRT569675	hsa-miR-6890-3p	PAR-CLIP	20371350
MIRT569673	hsa-miR-5693	PAR-CLIP	20371350
MIRT569674	hsa-miR-1304-3p	PAR-CLIP	20371350
MIRT569672	hsa-miR-4772-3p	PAR-CLIP	20371350
MIRT569671	hsa-miR-891a-3p	PAR-CLIP	20371350
MIRT083163	hsa-miR-8080	PAR-CLIP	21572407
MIRT083155	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT083152	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT020211	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT083153	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT083158	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT083160	hsa-miR-3666	PAR-CLIP	21572407
MIRT083159	hsa-miR-4295	PAR-CLIP	21572407
MIRT083156	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT544707	hsa-miR-6759-3p	PAR-CLIP	21572407
MIRT544706	hsa-miR-4696	PAR-CLIP	21572407
MIRT083162	hsa-miR-4775	PAR-CLIP	21572407
MIRT083161	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT083154	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT083157	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT1332922	hsa-miR-224	CLIP-seq
MIRT1332923	hsa-miR-3689d	CLIP-seq
MIRT1332924	hsa-miR-3976	CLIP-seq
MIRT1332925	hsa-miR-4477b	CLIP-seq
MIRT1332926	hsa-miR-4682	CLIP-seq
MIRT1332927	hsa-miR-4789-3p	CLIP-seq
MIRT2323139	hsa-miR-873	CLIP-seq
MIRT2323139	hsa-miR-873	CLIP-seq
MIRT2618973	hsa-miR-1343	CLIP-seq
MIRT2618974	hsa-miR-3074-5p	CLIP-seq
MIRT2618975	hsa-miR-323b-5p	CLIP-seq
MIRT2618976	hsa-miR-33a	CLIP-seq
MIRT2618977	hsa-miR-33b	CLIP-seq
MIRT2618978	hsa-miR-3713	CLIP-seq
MIRT2618973	hsa-miR-1343	CLIP-seq
MIRT2618974	hsa-miR-3074-5p	CLIP-seq
MIRT2618975	hsa-miR-323b-5p	CLIP-seq
MIRT2618976	hsa-miR-33a	CLIP-seq
MIRT2618977	hsa-miR-33b	CLIP-seq
MIRT2618978	hsa-miR-3713	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005515	Function	Protein binding	IPI	16189514, 21516116, 25416956, 26522472, 27551091, 31515488, 32296183, 32814053, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	26522472
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0012505	Component	Endomembrane system	IDA	21364188
GO:0012507	Component	ER to Golgi transport vesicle membrane	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0030127	Component	COPII vesicle coat	IBA
GO:0030127	Component	COPII vesicle coat	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0070971	Component	Endoplasmic reticulum exit site	IBA
GO:0090110	Process	COPII-coated vesicle cargo loading	IBA
GO:0090114	Process	COPII-coated vesicle budding	IEA

MIM	HGNC	e!Ensembl
610512	10702	ENSG00000101310

Q15437

Protein name

Protein transport protein Sec23B (hSec23B) (SEC23-related protein B)

Protein function

Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicle

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04810	zf-Sec23_Sec24	58 → 98	Sec23/Sec24 zinc finger	Domain
PF04811	Sec23_trunk	126 → 392	Sec23/Sec24 trunk domain	Domain
PF08033	Sec23_BS	403 → 506	Sec23/Sec24 beta-sandwich domain	Domain
PF04815	Sec23_helical	520 → 619	Sec23/Sec24 helical domain	Domain
PF00626	Gelsolin	631 → 720	Gelsolin repeat	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:8898360}.

Sequence

MATYLEFIQQNEERDGVRFSWNVWPSSRLEATRMVVPLACLLTPLKERPDLPPVQYEPVL
CSRPTCKAVLNPLCQVDYRAKLWACNFCFQRNQFPPAYGGISEVNQPAELMPQFSTIEYV
IQRGAQSPLIFLYVVDTCLEEDDLQALKESLQMSLSLLPPDALVGLITFGRMVQVHELSC
EGISKSYVFRGTKDLTAKQIQDMLGLTKPAMPMQQARPAQPQEHPFASSRFLQPVHKIDM
NLTDLLGELQRDPWPVTQGKRPLRSTGVALSIAVGLLEGTFPNTGARIMLFTGGPPTQGP
GMVVGDELKIPIRSWHDIEKDNARFMKKATKHYEMLANRTAANGHCIDIYACALDQTGLL
EMKCCANLTGGYMVMGDSFNTSLFKQTFQRIFTKDFNGDFRMAFGATLDVKTSRELKIAG
AIGPCVSLNVKGPCVSENELGVGGTSQWKICGLDPTSTLGIYFEVVNQHNTPIPQGGRGA
IQFVTHYQHSSTQRRIRVTTIARNWADVQSQLRHIEAAFDQEAAAVLMARLGVFRAESEE
GPDVLRWLDRQLIRLCQKFGQYNKEDPTSFRLSDSFSLYPQFMFHLRRSPFLQVFNNSPD
ESSYYRHHFARQDLTQSLIMIQPILYSYSFHGPPEPVLLDSSSILADRILLMDTFFQIVI
YLGETIAQWRKAGYQDMPEYENFKHLLQAPLDDAQEILQARFPMPRYINTEHGGSQARFL
LSKVNPSQTHNNLYAWGQETGAPILTDDVSLQVFMDHLKKLAVSSAC

Sequence length

767

Interactions

View interactions

	KEGG
	Protein processing in endoplasmic reticulum

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cervical cancer	Pathogenic	rs2517508341	RCV005934906	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital dyserythropoietic anemia, type II	Likely pathogenic; Pathogenic	rs398124225, rs398124226, rs201921350, rs201270568, rs121918221, rs121918222, rs121918224, rs121918225, rs121918226, rs775380378, rs905074313, rs755624074, rs199939108, rs727504145, rs201418257 View all (49 more)	RCV001843475 RCV001195899 RCV001894286 RCV002020875 RCV000001281 View all (61 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cowden syndrome 7	Likely pathogenic; Pathogenic	rs398124225, rs398124226, rs201921350, rs201270568, rs121918221, rs121918222, rs121918224, rs121918225, rs121918226, rs775380378, rs905074313, rs199939108, rs727504145, rs201418257, rs776983439 View all (47 more)	RCV003764767 RCV000689848 RCV001894286 RCV002020875 RCV000688348 View all (59 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SEC23B-related disorder	Likely pathogenic; Pathogenic	rs201270568, rs121918221, rs121918222, rs199939108, rs727504145	RCV002222748 RCV004547453 RCV004724725 RCV004737239 RCV004737238	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs398124226	RCV005934883	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (21)

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.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, DYSERYTHROPOIETIC, CONGENITAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital dyserythropoietic anemia	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 2	—	CTD, ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COWDEN DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COWDEN SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (86)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia	Anemia	BEFREE	14533796, 29893852, 31400017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	29893852	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Dyserythropoietic Congenital	Congenital dyserythropoietic anemia	Pubtator	10519996, 20015893, 20941788, 21850656, 22208203, 23453696, 24801240, 27471141, 27784127, 29300242, 31400017, 32759740, 35163229, 35820731, 37373084, 37455305, 9345103 View all (2 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	35820731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia of inadequate production	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	11281393		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	11281393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33176066	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29893852	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32123160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32123160	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia	GENOMICS_ENGLAND_DG	19561605		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia	CTD_human_DG	19561605		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia	BEFREE	21252497, 23065504, 23940284, 24196372, 29031773, 29846281, 6185913, 9345103		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital dyserythropoietic anemia type II	Congenital dyserythropoietic anemia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital dyserythropoietic anemia, type I	Congenital dyserythropoietic anemia	CTD_human_DG	19561605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia, type II	Congenital dyserythropoietic anemia	BEFREE	10519996, 10800161, 11281393, 12667984, 12756558, 19150496, 19561605, 19621418, 20941788, 21252497, 22208203, 23453696, 24801240, 2495036, 27297878 View all (5 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital dyserythropoietic anemia, type II	Congenital dyserythropoietic anemia	GENOMICS_ENGLAND_DG	19561605, 19621418, 20381388, 22208203, 27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital dyserythropoietic anemia, type II	Congenital dyserythropoietic anemia	CLINVAR_DG	19561605, 19621418, 20015893, 20941788, 21252497, 21850656, 22208203, 23453696, 25044164		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital dyserythropoietic anemia, type II	Congenital dyserythropoietic anemia	UNIPROT_DG	19561605, 19621418		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital dyserythropoietic anemia, type II	Congenital dyserythropoietic anemia	CTD_human_DG	19561605		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital dyserythropoietic anemia, type II	Congenital dyserythropoietic anemia	ORPHANET_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital dyserythropoietic anemia, type III	Anemia	CTD_human_DG	19561605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conjunctival hamartoma	Conjunctival hamartoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cowden syndrome	Cowden Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COWDEN SYNDROME 7	Cowden Syndrome	CLINVAR_DG	19561605, 19621418, 20015893, 21252497, 21850656, 25044164		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COWDEN SYNDROME 7	Cowden Syndrome	GENOMICS_ENGLAND_DG	26522472		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COWDEN SYNDROME 7	Cowden Syndrome	UNIPROT_DG	26522472		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COWDEN SYNDROME 7	Cowden Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deficiency of mevalonate kinase	Deficiency Of Mevalonate Kinase	BEFREE	20194276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Enlarged polycystic ovaries	Enlarged polycystic ovaries	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrous skin tumor of tuberous sclerosis	Adenoma sebaceum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	24801240	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	26522472, 27807061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	ORPHANET_DG	26522472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartomatous polyposis	Hamartomatous polyposis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	32098966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	30065114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	20381388		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	CLINVAR_DG	23453696		★★★★★ ★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3	Ichthyosis with hypotrichosis	CLINVAR_DG	19561605, 19621418, 20015893, 21850656		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	29396846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	29396846, 35163229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32098966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	26522472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26522472, 29893852, 31595159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	32098966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	26522472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	26522472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	38165228	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichilemmoma	Trichilemmoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE ID	Usher Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
von Willebrand Disease Type 2	Von willebrand disorder	Pubtator	32577795	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SEC23B (SEC23 homolog B, COPII component)