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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	4059
Gene name	Basal cell adhesion molecule (Lutheran blood group)
Gene symbol	BCAM
Synonyms (NCBI Gene)	AUB-CAMCD239F8/G253LUMSK19
Chromosome	19
Chromosome location	19q13.32
Summary	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

Show/Hide all (3)

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

295

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

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

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
BLOOD GROUP--LUTHERAN NULL	Pathogenic	rs121918132, rs3810141, rs121918133	RCV000000469 RCV000000471 RCV000000472	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b)	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BCAM-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD GROUP--LUTHERAN SYSTEM	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LuLu phenotype	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (47)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	36982982	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	21460841, 22832961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	29777097, 30617256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	14755370, 18322255, 20566895, 24616094, 24655501, 9873008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	26137540	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	14755370, 16546822, 18948049, 20562314, 20655789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	LHGDN	14755370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28841878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28351284, 29700410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	35595912	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	23168236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	11121140	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28841878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35941663	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	11121140	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	29756283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	8781446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27143691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	8781446	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	23168236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	23168236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	BEFREE	20655789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35941663	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18635166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24223164, 25051049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	24223164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28351284, 29700410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23168236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	23168236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28841878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15278364, 16546822, 24223164, 25733895, 31298055, 8781446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	8781446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	18948049, 29599206, 29756283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15278364, 23168236, 25051049, 25733895, 28841878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25733895, 36574667	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	23168236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	17412890, 18948049, 18972067, 23160466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	17412890, 29599206	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	11121140	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	11121140	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	15278364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	15278364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31951095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	17412890	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	23168236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	23168236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28841878		★★★★★ ★☆☆☆☆ Found in Text Mining only

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