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

1142

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cervical cancer	Pathogenic	rs2517508341	RCV005934906
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 RCV000001282 RCV000001284 RCV000001285 RCV000001286 RCV002250341 RCV003101567 RCV002283821 RCV002514962 RCV000779341 RCV002470657 RCV003061637 RCV002634283 RCV002775182 RCV002862093 RCV003778725 RCV003785505 RCV003785574 RCV003785683 RCV003783740 RCV003783741 RCV003783742 RCV003783743 RCV003783744 RCV003783745 RCV003783746 RCV003783747 RCV003798019 RCV003782914 RCV003782928 RCV003780932 RCV003789933 RCV003780267 RCV003787891 RCV003788065 RCV003793972 RCV003794662 RCV003808202 RCV003806710 RCV003791045 RCV003799994 RCV003805918 RCV003800591 RCV003803590 RCV003794769 RCV003800648 RCV003808831 RCV003809211 RCV003802284 RCV003809999 RCV003807432 RCV003810541 RCV003805175 RCV003818120 RCV000540391 RCV000638849 RCV000691489 RCV000703264 RCV000779340 RCV001873183 RCV005213426 RCV001003811
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 RCV000688744 RCV001384733 RCV002512638 RCV002496226 RCV002481053 RCV003101567 RCV002514962 RCV001850108 RCV003775526 RCV003061637 RCV002634283 RCV002775182 RCV002862093 RCV003778725 RCV003785505 RCV003785574 RCV003785683 RCV003783740 RCV003783741 RCV003783742 RCV003783743 RCV003783744 RCV003783745 RCV003783746 RCV003783747 RCV003798019 RCV003782914 RCV003782928 RCV003780932 RCV003789933 RCV003780267 RCV003787891 RCV003788065 RCV003793972 RCV003794662 RCV003808202 RCV003806710 RCV003791045 RCV003799994 RCV003805918 RCV003800591 RCV003803590 RCV003794769 RCV003800648 RCV003808831 RCV003809211 RCV003802284 RCV003809999 RCV003807432 RCV003810541 RCV003805175 RCV003818120 RCV003766993 RCV000638849 RCV000691489 RCV000703264 RCV003768444 RCV001873183 RCV005213426
SEC23B-related disorder	Likely pathogenic; Pathogenic	rs201270568, rs121918221, rs121918222, rs199939108, rs727504145	RCV002222748 RCV004547453 RCV004724725 RCV004737239 RCV004737238
See cases	Pathogenic	rs121918221, rs541860697	RCV004797746 RCV004798059
Thyroid cancer, nonmedullary, 1	Pathogenic	rs398124226	RCV005934883

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs573898514	RCV005934937
Congenital dyserythropoietic anemia	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs142180765, rs561908920, rs138178711, rs397793825, rs886056522, rs113396443, rs886056523, rs886056524, rs373348732, rs191103191, rs57738665, rs886056521, rs4813333, rs1600244935	RCV000368332 RCV000288232 RCV000349063 RCV000314865 RCV000388487 RCV000390269 RCV000398634 RCV000281152 RCV000338718 RCV000299012 RCV000389743 RCV000326870 RCV000296537 RCV000825546
Familial cancer of breast	Benign	rs3736775, rs4813334, rs6136406, rs1555354	RCV005886523 RCV005923327 RCV005924839 RCV005922187
Gastric cancer	Benign	rs4813334	RCV005923329
Hepatocellular carcinoma	Benign	rs3736775	RCV005886524
Hereditary ataxia	Uncertain significance	rs772896622	RCV005626801
Lung cancer	Benign	rs4813334	RCV005923330
Malignant lymphoma, large B-cell, diffuse	Benign	rs4813334	RCV005923328
Melanoma	Conflicting classifications of pathogenicity	rs200152499	RCV005927070
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs146587686	RCV005896232
Sarcoma	Uncertain significance; Conflicting classifications of pathogenicity	rs752366963, rs371786580	RCV005893840 RCV005901665

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anemia	Associate	29893852
Anemia Dyserythropoietic Congenital	Associate	10519996, 20015893, 20941788, 21850656, 22208203, 23453696, 24801240, 27471141, 27784127, 29300242, 31400017, 32759740, 35163229, 35820731, 37373084, 37455305, 9345103 View all (2 more)
Anemia Hemolytic	Associate	35820731
Breast Neoplasms	Associate	33176066
Carcinogenesis	Associate	29893852
Colorectal Neoplasms	Associate	32123160
Colorectal Neoplasms	Inhibit	32123160
Gaucher Disease	Associate	24801240
Hematologic Diseases	Associate	32098966
Hepatitis B	Associate	30065114
Iron Overload	Associate	29396846, 35163229
Leukemia Erythroblastic Acute	Associate	32759740
Leukemia Myeloid Acute	Associate	32098966
Myelodysplastic Syndromes	Associate	32098966
Neoplasm Metastasis	Associate	32123160
Neoplasms	Associate	28602946, 29893852, 32098966, 32577795, 33176066
Ovalocytosis Hereditary Hemolytic with Defective Erythropoiesis	Associate	20941788, 35163229
Thyroid Neoplasms	Associate	38165228
von Willebrand Disease Type 2	Associate	32577795

SEC23B (SEC23 homolog B, COPII component)