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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4059
Gene name Gene Name - the full gene name approved by the HGNC.	Basal cell adhesion molecule (Lutheran blood group)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BCAM
Synonyms (NCBI Gene) Gene synonyms aliases	AU, B-CAM, CD239, F8/G253, LU, MSK19
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, an

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SNP ID	Visualize variation	Clinical significance	Consequence
rs3810141	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs121918132	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs121918133	C>T	Pathogenic	Coding sequence variant, stop gained

Show/Hide all(295)

miRTarBase ID	miRNA	Experiments	Reference
MIRT490636	hsa-miR-634	PAR-CLIP	23592263
MIRT490634	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT490633	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT490632	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT490631	hsa-miR-761	PAR-CLIP	23592263
MIRT490630	hsa-miR-4530	PAR-CLIP	23592263
MIRT490629	hsa-miR-6087	PAR-CLIP	23592263
MIRT490628	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT490627	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT490626	hsa-miR-3144-5p	PAR-CLIP	23592263
MIRT490624	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT490625	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT490623	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT490622	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT490621	hsa-miR-6885-5p	PAR-CLIP	23592263
MIRT490620	hsa-miR-7109-5p	PAR-CLIP	23592263
MIRT490636	hsa-miR-634	PAR-CLIP	23592263
MIRT490634	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT490633	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT490632	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT490631	hsa-miR-761	PAR-CLIP	23592263
MIRT490630	hsa-miR-4530	PAR-CLIP	23592263
MIRT490629	hsa-miR-6087	PAR-CLIP	23592263
MIRT490628	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT490627	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT490626	hsa-miR-3144-5p	PAR-CLIP	23592263
MIRT490624	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT490625	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT490623	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT490622	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT490621	hsa-miR-6885-5p	PAR-CLIP	23592263
MIRT490620	hsa-miR-7109-5p	PAR-CLIP	23592263
MIRT817197	hsa-miR-1255a	CLIP-seq
MIRT817198	hsa-miR-1255b	CLIP-seq
MIRT817199	hsa-miR-1262	CLIP-seq
MIRT817200	hsa-miR-185	CLIP-seq
MIRT817201	hsa-miR-2110	CLIP-seq
MIRT817202	hsa-miR-2467-5p	CLIP-seq
MIRT817203	hsa-miR-28-5p	CLIP-seq
MIRT817204	hsa-miR-3135b	CLIP-seq
MIRT817205	hsa-miR-3139	CLIP-seq
MIRT817206	hsa-miR-3150a-3p	CLIP-seq
MIRT817207	hsa-miR-3188	CLIP-seq
MIRT817208	hsa-miR-3191	CLIP-seq
MIRT817209	hsa-miR-3652	CLIP-seq
MIRT817210	hsa-miR-3929	CLIP-seq
MIRT817211	hsa-miR-3975	CLIP-seq
MIRT817212	hsa-miR-4259	CLIP-seq
MIRT817213	hsa-miR-4306	CLIP-seq
MIRT817214	hsa-miR-4419b	CLIP-seq
MIRT817215	hsa-miR-4430	CLIP-seq
MIRT817216	hsa-miR-4446-3p	CLIP-seq
MIRT817217	hsa-miR-4450	CLIP-seq
MIRT817218	hsa-miR-4478	CLIP-seq
MIRT817219	hsa-miR-4492	CLIP-seq
MIRT817220	hsa-miR-4498	CLIP-seq
MIRT817221	hsa-miR-4644	CLIP-seq
MIRT817222	hsa-miR-4652-5p	CLIP-seq
MIRT817223	hsa-miR-4653-3p	CLIP-seq
MIRT817224	hsa-miR-4663	CLIP-seq
MIRT817225	hsa-miR-4670-3p	CLIP-seq
MIRT817226	hsa-miR-4685-5p	CLIP-seq
MIRT817227	hsa-miR-4701-3p	CLIP-seq
MIRT817228	hsa-miR-4715-5p	CLIP-seq
MIRT817229	hsa-miR-485-5p	CLIP-seq
MIRT817230	hsa-miR-571	CLIP-seq
MIRT817231	hsa-miR-610	CLIP-seq
MIRT817232	hsa-miR-708	CLIP-seq
MIRT817233	hsa-miR-762	CLIP-seq
MIRT817234	hsa-let-7a	CLIP-seq
MIRT817235	hsa-let-7b	CLIP-seq
MIRT817236	hsa-let-7c	CLIP-seq
MIRT817237	hsa-let-7d	CLIP-seq
MIRT817238	hsa-let-7e	CLIP-seq
MIRT817239	hsa-let-7f	CLIP-seq
MIRT817240	hsa-let-7g	CLIP-seq
MIRT817241	hsa-let-7i	CLIP-seq
MIRT817242	hsa-miR-103a	CLIP-seq
MIRT817243	hsa-miR-107	CLIP-seq
MIRT817244	hsa-miR-1184	CLIP-seq
MIRT817245	hsa-miR-1205	CLIP-seq
MIRT817246	hsa-miR-1245b-3p	CLIP-seq
MIRT817247	hsa-miR-125a-3p	CLIP-seq
MIRT817248	hsa-miR-1301	CLIP-seq
MIRT817249	hsa-miR-1825	CLIP-seq
MIRT817250	hsa-miR-1908	CLIP-seq
MIRT817251	hsa-miR-1909	CLIP-seq
MIRT817252	hsa-miR-199a-5p	CLIP-seq
MIRT817253	hsa-miR-199b-5p	CLIP-seq
MIRT817254	hsa-miR-214	CLIP-seq
MIRT817255	hsa-miR-3141	CLIP-seq
MIRT817256	hsa-miR-3151	CLIP-seq
MIRT817257	hsa-miR-3158-5p	CLIP-seq
MIRT817258	hsa-miR-3180	CLIP-seq
MIRT817259	hsa-miR-3180-3p	CLIP-seq
MIRT817260	hsa-miR-3180-5p	CLIP-seq
MIRT817261	hsa-miR-3184	CLIP-seq
MIRT817262	hsa-miR-3196	CLIP-seq
MIRT817263	hsa-miR-342-5p	CLIP-seq
MIRT817264	hsa-miR-3649	CLIP-seq
MIRT817265	hsa-miR-3925-3p	CLIP-seq
MIRT817266	hsa-miR-3934	CLIP-seq
MIRT817267	hsa-miR-423-5p	CLIP-seq
MIRT817268	hsa-miR-4310	CLIP-seq
MIRT817269	hsa-miR-4433	CLIP-seq
MIRT817270	hsa-miR-4447	CLIP-seq
MIRT817271	hsa-miR-4458	CLIP-seq
MIRT817272	hsa-miR-4472	CLIP-seq
MIRT817273	hsa-miR-4481	CLIP-seq
MIRT817274	hsa-miR-4494	CLIP-seq
MIRT817275	hsa-miR-4500	CLIP-seq
MIRT817276	hsa-miR-4501	CLIP-seq
MIRT817277	hsa-miR-4504	CLIP-seq
MIRT817278	hsa-miR-451b	CLIP-seq
MIRT817279	hsa-miR-4522	CLIP-seq
MIRT817280	hsa-miR-4648	CLIP-seq
MIRT817281	hsa-miR-4651	CLIP-seq
MIRT817282	hsa-miR-4660	CLIP-seq
MIRT817283	hsa-miR-4664-5p	CLIP-seq
MIRT817226	hsa-miR-4685-5p	CLIP-seq
MIRT817284	hsa-miR-4694-5p	CLIP-seq
MIRT817285	hsa-miR-4696	CLIP-seq
MIRT817286	hsa-miR-4710	CLIP-seq
MIRT817287	hsa-miR-4722-5p	CLIP-seq
MIRT817288	hsa-miR-4729	CLIP-seq
MIRT817289	hsa-miR-4745-5p	CLIP-seq
MIRT817290	hsa-miR-4763-5p	CLIP-seq
MIRT817291	hsa-miR-486-3p	CLIP-seq
MIRT817292	hsa-miR-499a-5p	CLIP-seq
MIRT817293	hsa-miR-5047	CLIP-seq
MIRT817294	hsa-miR-508-5p	CLIP-seq
MIRT817295	hsa-miR-520a-5p	CLIP-seq
MIRT817296	hsa-miR-525-5p	CLIP-seq
MIRT817297	hsa-miR-542-3p	CLIP-seq
MIRT817298	hsa-miR-608	CLIP-seq
MIRT817299	hsa-miR-625	CLIP-seq
MIRT817300	hsa-miR-658	CLIP-seq
MIRT817301	hsa-miR-663	CLIP-seq
MIRT817302	hsa-miR-764	CLIP-seq
MIRT817303	hsa-miR-98	CLIP-seq
MIRT817234	hsa-let-7a	CLIP-seq
MIRT817235	hsa-let-7b	CLIP-seq
MIRT817236	hsa-let-7c	CLIP-seq
MIRT817237	hsa-let-7d	CLIP-seq
MIRT817238	hsa-let-7e	CLIP-seq
MIRT817239	hsa-let-7f	CLIP-seq
MIRT817240	hsa-let-7g	CLIP-seq
MIRT817241	hsa-let-7i	CLIP-seq
MIRT817246	hsa-miR-1245b-3p	CLIP-seq
MIRT817249	hsa-miR-1825	CLIP-seq
MIRT817252	hsa-miR-199a-5p	CLIP-seq
MIRT817253	hsa-miR-199b-5p	CLIP-seq
MIRT1941668	hsa-miR-2861	CLIP-seq
MIRT817256	hsa-miR-3151	CLIP-seq
MIRT817258	hsa-miR-3180	CLIP-seq
MIRT817259	hsa-miR-3180-3p	CLIP-seq
MIRT817260	hsa-miR-3180-5p	CLIP-seq
MIRT817262	hsa-miR-3196	CLIP-seq
MIRT817263	hsa-miR-342-5p	CLIP-seq
MIRT817265	hsa-miR-3925-3p	CLIP-seq
MIRT817216	hsa-miR-4446-3p	CLIP-seq
MIRT817271	hsa-miR-4458	CLIP-seq
MIRT817219	hsa-miR-4492	CLIP-seq
MIRT817220	hsa-miR-4498	CLIP-seq
MIRT817275	hsa-miR-4500	CLIP-seq
MIRT817281	hsa-miR-4651	CLIP-seq
MIRT817283	hsa-miR-4664-5p	CLIP-seq
MIRT817294	hsa-miR-508-5p	CLIP-seq
MIRT817295	hsa-miR-520a-5p	CLIP-seq
MIRT817296	hsa-miR-525-5p	CLIP-seq
MIRT817298	hsa-miR-608	CLIP-seq
MIRT817300	hsa-miR-658	CLIP-seq
MIRT817233	hsa-miR-762	CLIP-seq
MIRT817303	hsa-miR-98	CLIP-seq
MIRT817242	hsa-miR-103a	CLIP-seq
MIRT817243	hsa-miR-107	CLIP-seq
MIRT817244	hsa-miR-1184	CLIP-seq
MIRT817245	hsa-miR-1205	CLIP-seq
MIRT817246	hsa-miR-1245b-3p	CLIP-seq
MIRT817247	hsa-miR-125a-3p	CLIP-seq
MIRT817249	hsa-miR-1825	CLIP-seq
MIRT2180487	hsa-miR-1827	CLIP-seq
MIRT817250	hsa-miR-1908	CLIP-seq
MIRT817251	hsa-miR-1909	CLIP-seq
MIRT817252	hsa-miR-199a-5p	CLIP-seq
MIRT817253	hsa-miR-199b-5p	CLIP-seq
MIRT2180488	hsa-miR-2117	CLIP-seq
MIRT817254	hsa-miR-214	CLIP-seq
MIRT1941668	hsa-miR-2861	CLIP-seq
MIRT817257	hsa-miR-3158-5p	CLIP-seq
MIRT817258	hsa-miR-3180	CLIP-seq
MIRT817259	hsa-miR-3180-3p	CLIP-seq
MIRT817260	hsa-miR-3180-5p	CLIP-seq
MIRT817261	hsa-miR-3184	CLIP-seq
MIRT817262	hsa-miR-3196	CLIP-seq
MIRT2180489	hsa-miR-3612	CLIP-seq
MIRT2180490	hsa-miR-3622b-5p	CLIP-seq
MIRT817264	hsa-miR-3649	CLIP-seq
MIRT2180491	hsa-miR-3921	CLIP-seq
MIRT817265	hsa-miR-3925-3p	CLIP-seq
MIRT817266	hsa-miR-3934	CLIP-seq
MIRT817267	hsa-miR-423-5p	CLIP-seq
MIRT2180492	hsa-miR-4252	CLIP-seq
MIRT2180493	hsa-miR-4253	CLIP-seq
MIRT817268	hsa-miR-4310	CLIP-seq
MIRT2180494	hsa-miR-4318	CLIP-seq
MIRT817216	hsa-miR-4446-3p	CLIP-seq
MIRT817270	hsa-miR-4447	CLIP-seq
MIRT2180495	hsa-miR-4468	CLIP-seq
MIRT817272	hsa-miR-4472	CLIP-seq
MIRT817273	hsa-miR-4481	CLIP-seq
MIRT817219	hsa-miR-4492	CLIP-seq
MIRT817274	hsa-miR-4494	CLIP-seq
MIRT817220	hsa-miR-4498	CLIP-seq
MIRT2180496	hsa-miR-4502	CLIP-seq
MIRT2180497	hsa-miR-4514	CLIP-seq
MIRT817278	hsa-miR-451b	CLIP-seq
MIRT817279	hsa-miR-4522	CLIP-seq
MIRT817280	hsa-miR-4648	CLIP-seq
MIRT2180498	hsa-miR-4653-5p	CLIP-seq
MIRT2180499	hsa-miR-4691-3p	CLIP-seq
MIRT2180500	hsa-miR-4692	CLIP-seq
MIRT817285	hsa-miR-4696	CLIP-seq
MIRT817286	hsa-miR-4710	CLIP-seq
MIRT817288	hsa-miR-4729	CLIP-seq
MIRT817289	hsa-miR-4745-5p	CLIP-seq
MIRT817292	hsa-miR-499a-5p	CLIP-seq
MIRT817294	hsa-miR-508-5p	CLIP-seq
MIRT817295	hsa-miR-520a-5p	CLIP-seq
MIRT817296	hsa-miR-525-5p	CLIP-seq
MIRT2180501	hsa-miR-548c-3p	CLIP-seq
MIRT2180502	hsa-miR-650	CLIP-seq
MIRT817301	hsa-miR-663	CLIP-seq
MIRT817233	hsa-miR-762	CLIP-seq
MIRT817302	hsa-miR-764	CLIP-seq
MIRT2180503	hsa-miR-940	CLIP-seq
MIRT817250	hsa-miR-1908	CLIP-seq
MIRT817258	hsa-miR-3180	CLIP-seq
MIRT817259	hsa-miR-3180-3p	CLIP-seq
MIRT817261	hsa-miR-3184	CLIP-seq
MIRT817262	hsa-miR-3196	CLIP-seq
MIRT817264	hsa-miR-3649	CLIP-seq
MIRT817267	hsa-miR-423-5p	CLIP-seq
MIRT817269	hsa-miR-4433	CLIP-seq
MIRT817273	hsa-miR-4481	CLIP-seq
MIRT817219	hsa-miR-4492	CLIP-seq
MIRT817220	hsa-miR-4498	CLIP-seq
MIRT817280	hsa-miR-4648	CLIP-seq
MIRT817286	hsa-miR-4710	CLIP-seq
MIRT817289	hsa-miR-4745-5p	CLIP-seq
MIRT817301	hsa-miR-663	CLIP-seq
MIRT817233	hsa-miR-762	CLIP-seq
MIRT817242	hsa-miR-103a	CLIP-seq
MIRT817243	hsa-miR-107	CLIP-seq
MIRT817244	hsa-miR-1184	CLIP-seq
MIRT817245	hsa-miR-1205	CLIP-seq
MIRT817247	hsa-miR-125a-3p	CLIP-seq
MIRT817251	hsa-miR-1909	CLIP-seq
MIRT817254	hsa-miR-214	CLIP-seq
MIRT817257	hsa-miR-3158-5p	CLIP-seq
MIRT817266	hsa-miR-3934	CLIP-seq
MIRT817270	hsa-miR-4447	CLIP-seq
MIRT817272	hsa-miR-4472	CLIP-seq
MIRT817278	hsa-miR-451b	CLIP-seq
MIRT817279	hsa-miR-4522	CLIP-seq
MIRT817285	hsa-miR-4696	CLIP-seq
MIRT2180501	hsa-miR-548c-3p	CLIP-seq
MIRT817302	hsa-miR-764	CLIP-seq
MIRT817242	hsa-miR-103a	CLIP-seq
MIRT817243	hsa-miR-107	CLIP-seq
MIRT817244	hsa-miR-1184	CLIP-seq
MIRT817245	hsa-miR-1205	CLIP-seq
MIRT817247	hsa-miR-125a-3p	CLIP-seq
MIRT817257	hsa-miR-3158-5p	CLIP-seq
MIRT817266	hsa-miR-3934	CLIP-seq
MIRT817270	hsa-miR-4447	CLIP-seq
MIRT817272	hsa-miR-4472	CLIP-seq
MIRT817278	hsa-miR-451b	CLIP-seq
MIRT817279	hsa-miR-4522	CLIP-seq
MIRT817285	hsa-miR-4696	CLIP-seq
MIRT817302	hsa-miR-764	CLIP-seq
MIRT2483829	hsa-miR-1185	CLIP-seq
MIRT817197	hsa-miR-1255a	CLIP-seq
MIRT817198	hsa-miR-1255b	CLIP-seq
MIRT817201	hsa-miR-2110	CLIP-seq
MIRT2483830	hsa-miR-2392	CLIP-seq
MIRT817206	hsa-miR-3150a-3p	CLIP-seq
MIRT2483831	hsa-miR-3605-5p	CLIP-seq
MIRT2483832	hsa-miR-3679-5p	CLIP-seq
MIRT817212	hsa-miR-4259	CLIP-seq
MIRT817217	hsa-miR-4450	CLIP-seq
MIRT2483833	hsa-miR-4675	CLIP-seq
MIRT2483834	hsa-miR-4703-3p	CLIP-seq
MIRT817228	hsa-miR-4715-5p	CLIP-seq
MIRT2483835	hsa-miR-4741	CLIP-seq

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IBA
GO:0004888	Function	Transmembrane signaling receptor activity	TAS	7777537
GO:0005055	Function	Laminin receptor activity	IBA
GO:0005055	Function	Laminin receptor activity	IDA	15975931
GO:0005055	Function	Laminin receptor activity	IEA
GO:0005055	Function	Laminin receptor activity	IMP	16236823
GO:0005515	Function	Protein binding	IDA	24453976
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 32296183
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	31413112
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7777537, 9166867
GO:0007155	Process	Cell adhesion	IDA	15975931
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	7954395
GO:0007160	Process	Cell-matrix adhesion	IMP	16236823
GO:0007165	Process	Signal transduction	TAS	7777537
GO:0009897	Component	External side of plasma membrane	IC	16236823
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0031012	Component	Extracellular matrix	HDA	27559042
GO:0043236	Function	Laminin binding	IMP	16236823
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
612773	6722	ENSG00000187244

Protein

UniProt ID

P50895

Protein name

Basal cell adhesion molecule (Auberger B antigen) (B-CAM cell surface glycoprotein) (F8/G253 antigen) (Lutheran antigen) (Lutheran blood group glycoprotein) (CD antigen CD239)

Protein function

Transmembrane glycoprotein that functions as both a receptor and an adhesion molecule playing a crucial role in cell adhesion, motility, migration and invasion (PubMed:9616226, PubMed:31413112). Extracellular domain enables binding to extracellu

PDB

2PET , 2PF6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07686	V-set	36 → 144	Immunoglobulin V-set domain	Domain
PF08205	C2-set_2	150 → 248	CD80-like C2-set immunoglobulin domain	Domain
PF13927	Ig_3	271 → 341		Domain
PF13895	Ig_2	366 → 442	Immunoglobulin domain	Domain
PF13895	Ig_2	453 → 537	Immunoglobulin domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Wide tissue distribution (highest in the pancreas and very low in brain). Closely associated with the basal layer of cells in epithelia and the endothelium of blood vessel walls.

Sequence

MEPPDAPAQARGAPRLLLLAVLLAAHPDAQAEVRLSVPPLVEVMRGKSVILDCTPTGTHD
HYMLEWFLTDRSGARPRLASAEMQGSELQVTMHDTRGRSPPYQLDSQGRLVLAEAQVGDE
RDYVCVVRAGAAGTAEATARLNVFAKPEATEVSPNKGTLSVMEDSAQEIATCNSRNGNPA
PKITWYRNGQRLEVPVEMNPEGYMTSRTVREASGLLSLTSTLYLRLRKDDRDASFHCAAH
YSLPEGRHGRLDSPTFHLTLHYPTEHVQFWVGSPSTPAGWVREGDTVQLLCRGDGSPSPE
YTLFRLQDEQEEVLNVNLEGNLTLEGVTRGQSGTYGCRVEDYDAADDVQLSKTLELRVAY
LDPLELSEGKVLSLPLNSSAVVNCSVHGLPTPALRWTKDSTPLGDGPMLSLSSITFDSNG
TYVCEASLPTVPVLSRTQNFTLLVQGSPELKTAEIEPKADGSWREGDEVTLICSARGHPD
PKLSWSQLGGSPAEPIPGRQGWVSSSLTLKVTSALSRDGISCEASNPHGNKRHVFHFGTV
SPQTSQAGVAVMAVAVSVGLLLLVVAVFYCVRRKGGPCCRQRREKGAPPPGEPGLSHSGS
EQPEQTGLLMGGASGGARGGSGGFGDEC

Sequence length

628

Interactions

View interactions

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Dementia	Dementia	N/A	N/A	GWAS
Diabetes	Type 2 diabetes mellitus or coronary artery disease (pleiotropy), Type 2 diabetes	N/A	N/A	GWAS

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	37021520
Alzheimer Disease	Associate	36982982
Anemia Sickle Cell	Associate	14755370, 18322255, 20566895, 24616094, 24655501, 9873008
Anemia Sickle Cell	Stimulate	26137540
Bronchopulmonary Dysplasia	Associate	35595912
Carcinoma Basal Cell	Stimulate	11121140
Carcinoma Renal Cell	Associate	35941663
Carcinoma Squamous Cell	Stimulate	11121140
Colorectal Neoplasms	Associate	8781446
Immune System Diseases	Associate	35941663
Inflammation	Associate	11121140
Keratoacanthoma	Stimulate	11121140
Leukemia Erythroblastic Acute	Associate	9873008
Neoplasm Metastasis	Associate	31951095
Neoplasms	Associate	11121140, 25733895, 29599206, 33176066, 35941663, 8781446
Ovarian Neoplasms	Associate	25733895, 36574667
Polycythemia Vera	Associate	17412890, 29599206
Skin Abnormalities	Associate	11121140
Skin Neoplasms	Stimulate	11121140
Stomach Neoplasms	Associate	31951095
Thrombosis	Associate	17412890
Warts	Stimulate	11121140

BCAM (basal cell adhesion molecule (Lutheran blood group))