ADGRG1 (adhesion G protein-coupled receptor G1)

Gene

• Entrez ID: 9289
• Gene name: Adhesion G protein-coupled receptor G1
• Gene symbol: ADGRG1
• Synonyms (NCBI Gene): BFPP, BPPR, CDCBM14B, CDCBM15A, GPR56, TM7LN4, TM7XN1
• Chromosome: 16
• Chromosome location: 16q21
• Summary: This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progressi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs58068378	C>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, intron variant, coding sequence variant
rs112805221	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs113358058	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs121908462	C>A,T	Pathogenic	Synonymous variant, intron variant, coding sequence variant, splice donor variant, missense variant, 5 prime UTR variant
rs121908463	T>A	Pathogenic	Coding sequence variant, missense variant
rs121908464	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908465	G>C	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs121908466	A>G	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs138344683	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs142684762	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs146278035	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, intron variant
rs151020094	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200241873	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant, 5 prime UTR variant
rs368883473	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs532188689	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587776623	G>A,C	Pathogenic	Intron variant
rs587776624	G>C	Pathogenic	Splice acceptor variant
rs587776625	CAGGACC>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777312	CAACGGTTGCCAGGG>-,CAACGGTTGCCAGGGCAACGGTTGCCAGGG	Pathogenic	5 prime UTR variant, upstream transcript variant, genic upstream transcript variant, intron variant
rs587783652	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs587783653	T>C	Pathogenic	Missense variant, coding sequence variant
rs587783654	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783655	T>G	Pathogenic	Stop gained, coding sequence variant
rs587783656	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783658	C>A,T	Pathogenic	Missense variant, intron variant, 5 prime UTR variant, coding sequence variant
rs587783660	G>A	Pathogenic	Splice donor variant, intron variant
rs727503955	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs762771228	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs763238723	T>A,C	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, intron variant, missense variant
rs768441855	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs780718243	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant, 5 prime UTR variant, intron variant
rs786204777	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, intron variant
rs797045600	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045602	->TT	Pathogenic	Coding sequence variant, frameshift variant
rs1047016803	C>T	Pathogenic	Intron variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1057517949	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1367685651	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1567782714	C>T	Pathogenic	Coding sequence variant, stop gained
rs1567815105	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1597442680	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT440534	hsa-miR-544a	HITS-CLIP	24374217
MIRT440534	hsa-miR-544a	HITS-CLIP	24374217
MIRT754984	hsa-miR-1236-5p	PAR-CLIP	26701625
MIRT754984	hsa-miR-1236-5p	PAR-CLIP	26701625
MIRT754984	hsa-miR-1236-5p	PAR-CLIP	26701625
MIRT754978	hsa-miR-2114-5p	PAR-CLIP	26701625
MIRT754978	hsa-miR-2114-5p	PAR-CLIP	26701625
MIRT754978	hsa-miR-2114-5p	PAR-CLIP	26701625
MIRT754983	hsa-miR-3160-3p	PAR-CLIP	26701625
MIRT754983	hsa-miR-3160-3p	PAR-CLIP	26701625
MIRT754983	hsa-miR-3160-3p	PAR-CLIP	26701625
MIRT754982	hsa-miR-4537	PAR-CLIP	26701625
MIRT754982	hsa-miR-4537	PAR-CLIP	26701625
MIRT754982	hsa-miR-4537	PAR-CLIP	26701625
MIRT754985	hsa-miR-4765	PAR-CLIP	26701625
MIRT754985	hsa-miR-4765	PAR-CLIP	26701625
MIRT754985	hsa-miR-4765	PAR-CLIP	26701625
MIRT754977	hsa-miR-5588-3p	PAR-CLIP	26701625
MIRT754977	hsa-miR-5588-3p	PAR-CLIP	26701625
MIRT754977	hsa-miR-5588-3p	PAR-CLIP	26701625
MIRT754986	hsa-miR-8077	PAR-CLIP	26701625
MIRT754986	hsa-miR-8077	PAR-CLIP	26701625
MIRT754986	hsa-miR-8077	PAR-CLIP	26701625
MIRT754984	hsa-miR-1236-5p	PAR-CLIP	27292025
MIRT754978	hsa-miR-2114-5p	PAR-CLIP	27292025
MIRT754983	hsa-miR-3160-3p	PAR-CLIP	27292025
MIRT754982	hsa-miR-4537	PAR-CLIP	27292025
MIRT754985	hsa-miR-4765	PAR-CLIP	27292025
MIRT754977	hsa-miR-5588-3p	PAR-CLIP	27292025
MIRT754986	hsa-miR-8077	PAR-CLIP	27292025
MIRT741678	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT741679	hsa-miR-8485	HITS-CLIP	23824327
MIRT741680	hsa-miR-6856-3p	HITS-CLIP	23824327
MIRT741681	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT741682	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT741683	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741684	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT741685	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT741686	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT741687	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT741688	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT741689	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT741690	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT741691	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT741692	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT741693	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT741694	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT741695	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT741696	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT741697	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT741678	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT741679	hsa-miR-8485	HITS-CLIP	23824327
MIRT741680	hsa-miR-6856-3p	HITS-CLIP	23824327
MIRT741681	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT741682	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT741683	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741684	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT741685	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT741686	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT741687	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT741688	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT741689	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT741690	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT741691	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT741692	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT741693	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT741694	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT741695	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT741696	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT741697	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT741678	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT741679	hsa-miR-8485	HITS-CLIP	23824327
MIRT741680	hsa-miR-6856-3p	HITS-CLIP	23824327
MIRT741681	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT741682	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT741683	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741684	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT741686	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT741687	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT741688	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT741689	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT741691	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT741693	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT741694	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT741695	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT741696	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT741697	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT741680	hsa-miR-6856-3p	HITS-CLIP	23824327
MIRT741681	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT741682	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT741683	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741684	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT741685	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT741689	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT741690	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT741691	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT741692	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT741693	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT741694	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT741678	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT741679	hsa-miR-8485	HITS-CLIP	23824327
MIRT741680	hsa-miR-6856-3p	HITS-CLIP	23824327
MIRT741681	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT741682	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT741683	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741684	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT741685	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT741686	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT741687	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT741688	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT741689	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT741691	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT741692	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT741693	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT741694	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT741695	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT741696	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT741697	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT741678	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT741679	hsa-miR-8485	HITS-CLIP	23824327
MIRT741680	hsa-miR-6856-3p	HITS-CLIP	23824327
MIRT741681	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT741682	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT741683	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741684	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT741685	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT741686	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT741687	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT741688	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT741689	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT741691	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT741692	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT741693	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT741694	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT741695	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT741696	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT741697	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT741678	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT741679	hsa-miR-8485	HITS-CLIP	23824327
MIRT741680	hsa-miR-6856-3p	HITS-CLIP	23824327
MIRT741681	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT741682	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT741683	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741684	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT741686	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT741687	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT741688	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT741689	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT741691	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT741693	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT741694	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT741695	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT741696	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT741697	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT754527	hsa-miR-1264	PAR-CLIP	22012620
MIRT754528	hsa-miR-6808-5p	PAR-CLIP	22012620
MIRT754529	hsa-miR-6893-5p	PAR-CLIP	22012620
MIRT754530	hsa-miR-940	PAR-CLIP	22012620
MIRT754531	hsa-miR-4514	PAR-CLIP	22012620
MIRT754532	hsa-miR-4692	PAR-CLIP	22012620
MIRT754533	hsa-miR-665	PAR-CLIP	22012620
MIRT754534	hsa-miR-4645-5p	PAR-CLIP	22012620
MIRT754535	hsa-miR-4673	PAR-CLIP	22012620
MIRT754536	hsa-miR-6840-3p	PAR-CLIP	22012620
MIRT754537	hsa-miR-1915-3p	PAR-CLIP	22012620
MIRT754538	hsa-miR-6764-5p	PAR-CLIP	22012620
MIRT754539	hsa-miR-4726-3p	PAR-CLIP	22012620
MIRT754540	hsa-miR-873-5p	PAR-CLIP	22012620
MIRT754541	hsa-miR-7977	PAR-CLIP	22012620
MIRT754976	hsa-miR-4753-5p	PAR-CLIP	23592263
MIRT754977	hsa-miR-5588-3p	PAR-CLIP	23592263
MIRT754978	hsa-miR-2114-5p	PAR-CLIP	23592263
MIRT754979	hsa-miR-3922-5p	PAR-CLIP	23592263
MIRT754980	hsa-miR-6814-5p	PAR-CLIP	23592263
MIRT754981	hsa-miR-6793-3p	PAR-CLIP	23592263
MIRT754982	hsa-miR-4537	PAR-CLIP	23592263
MIRT754983	hsa-miR-3160-3p	PAR-CLIP	23592263
MIRT754984	hsa-miR-1236-5p	PAR-CLIP	23592263
MIRT754985	hsa-miR-4765	PAR-CLIP	23592263
MIRT754986	hsa-miR-8077	PAR-CLIP	23592263
MIRT754977	hsa-miR-5588-3p	PAR-CLIP	23592263
MIRT754978	hsa-miR-2114-5p	PAR-CLIP	23592263
MIRT754982	hsa-miR-4537	PAR-CLIP	23592263
MIRT754983	hsa-miR-3160-3p	PAR-CLIP	23592263
MIRT754984	hsa-miR-1236-5p	PAR-CLIP	23592263
MIRT754985	hsa-miR-4765	PAR-CLIP	23592263
MIRT754986	hsa-miR-8077	PAR-CLIP	23592263

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IDA	21724588
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IBA
GO:0004930	Function	G protein-coupled receptor activity	IDA	35418682, 39389061
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IMP	28424266
GO:0004930	Function	G protein-coupled receptor activity	ISS
GO:0004930	Function	G protein-coupled receptor activity	TAS	10049584, 15004227
GO:0005515	Function	Protein binding	IPI	28258187
GO:0005518	Function	Collagen binding	IEA
GO:0005518	Function	Collagen binding	ISS
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21349848, 28424266
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	28424266
GO:0005886	Component	Plasma membrane	TAS	10049584
GO:0007155	Process	Cell adhesion	IDA	15674329, 27068534
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	10049584
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	10049584, 15004227
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	21724588
GO:0007266	Process	Rho protein signal transduction	IDA	26529257
GO:0007266	Process	Rho protein signal transduction	IDA	21708946
GO:0007266	Process	Rho protein signal transduction	IMP	23241886, 31570889
GO:0007267	Process	Cell-cell signaling	TAS	10049584
GO:0007399	Process	Nervous system development	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	IMP	15044805
GO:0008201	Function	Heparin binding	IBA
GO:0008201	Function	Heparin binding	IDA	27068534
GO:0008201	Function	Heparin binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	16757564
GO:0009967	Process	Positive regulation of signal transduction	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	15004227
GO:0016477	Process	Cell migration	IDA	27068534
GO:0016477	Process	Cell migration	IEA
GO:0021796	Process	Cerebral cortex regionalization	IEA
GO:0021801	Process	Cerebral cortex radial glia-guided migration	IEA
GO:0021801	Process	Cerebral cortex radial glia-guided migration	ISS
GO:0021819	Process	Layer formation in cerebral cortex	IEA
GO:0021819	Process	Layer formation in cerebral cortex	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0035025	Process	Positive regulation of Rho protein signal transduction	IEA
GO:0035025	Process	Positive regulation of Rho protein signal transduction	ISS
GO:0035295	Process	Tube development	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0045785	Process	Positive regulation of cell adhesion	IDA	21349848
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0050840	Function	Extracellular matrix binding	IEA
GO:0050840	Function	Extracellular matrix binding	ISS
GO:0061351	Process	Neural precursor cell proliferation	IEA
GO:0061484	Process	Hematopoietic stem cell homeostasis	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0072520	Process	Seminiferous tubule development	IEA
GO:0090330	Process	Regulation of platelet aggregation	IDA	33097663
GO:0090330	Process	Regulation of platelet aggregation	IEA
GO:0097451	Component	Glial limiting end-foot	IEA
GO:0097451	Component	Glial limiting end-foot	ISS
GO:0110076	Process	Negative regulation of ferroptosis	IEA
GO:0110076	Process	Negative regulation of ferroptosis	ISS
GO:0160221	Process	Rho-activating G protein-coupled receptor signaling pathway	IDA	10199825, 11094164
GO:0160221	Process	Rho-activating G protein-coupled receptor signaling pathway	IDA	33097663, 35418682, 39389061
GO:0160221	Process	Rho-activating G protein-coupled receptor signaling pathway	IEA
GO:0160221	Process	Rho-activating G protein-coupled receptor signaling pathway	IMP	28424266
GO:1900748	Process	Positive regulation of vascular endothelial growth factor signaling pathway	IDA	21724588
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	IEA
GO:2001223	Process	Negative regulation of neuron migration	IEA
GO:2001223	Process	Negative regulation of neuron migration	ISS

Other IDs

• MIM: 604110
• HGNC: 4512
• e!Ensembl: ENSG00000205336

Protein

• UniProt ID: Q9Y653
• Protein name: Adhesion G-protein coupled receptor G1 (G-protein coupled receptor 56) [Cleaved into: Adhesion G-protein coupled receptor G1, N-terminal fragment (ADGRG1 N-terminal fragment) (ADGRG1 NT) (GPR56 N-terminal fragment) (GPR56 NT) (GPR56(N)) (GPR56 extracellul
• Protein function: Adhesion G-protein coupled receptor (aGPCR) for steroid hormone 17alpha-hydroxypregnenolone (17-OH), which is involved in cell adhesion and cell-cell interactions (PubMed:39389061). Ligand binding causes a conformation change that triggers signa
• PDB: 7SF8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18587	PLL	29 → 162	PTX/LNS-Like (PLL) domain	Domain
  PF18619	GAIN_A	173 → 220	GPCR-Autoproteolysis-INducing (GAIN) subdomain A	Domain
  PF01825	GPS	344 → 388	GPCR proteolysis site, GPS, motif	Motif
  PF00002	7tm_2	400 → 654	7 transmembrane receptor (Secretin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely distributed with highest levels found in thyroid gland, brain and heart. Expressed in a great number of tumor cells. Expression is down-regulated in different tumors from highly metastatic cells. {ECO:0000269|PubMed:16757564}.
• Sequence:

  MTPQSLLQTTLFLLSLLFLVQGAHGRGHREDFRFCSQRNQTHRSSLHYKPTPDLRISIEN
  SEEALTVHAPFPAAHPASRSFPDPRGLYHFCLYWNRHAGRLHLLYGKRDFLLSDKASSLL
  CFQHQEESLAQGPPLLATSVTSWWSPQNISLPSAASFTFSFHSPPHTAAHNASVDMCELK
  RDLQLLSQFLKHPQKASRRPSAAPASQQLQSLESKLTSVRFMGDMVSFEEDRINATVWKL
  QPTAGLQDLHIHSRQEEEQSEIMEYSVLLPRTLFQRTKGRSGEAEKRLLLVDFSSQALFQ
  DKNSSQVLGEKVLGIVVQNTKVANLTEPVVLTFQHQLQPKNVTLQCVFWVEDPTLSSPGH
  WSSAGCETVRRETQTSCFCNHLTYFAVLMVSSVEVDAVHKHYLSLLSYVGCVVSALACLV
  TIAAYLCSRVPLPCRRKPRDYTIKVHMNLLLAVFLLDTSFLLSEPVALTGSEAGCRASAI
  FLHFSLLTCLSWMGLEGYNLYRLVVEVFGTYVPGYLLKLSAMGWGFPIFLVTLVALVDVD
  NYGPIILAVHRTPEGVIYPSMCWIRDSLVSYITNLGLFSLVFLFNMAMLATMVVQILRLR
  PHTQKWSHVLTLLGLSLVLGLPWALIFFSFASGTFQLVVLYLFSIITSFQGFLIFIWYWS
  MRLQARGGPSPLKSNSDSARLPISSGSTSSSRI

• Sequence length: 693

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal cerebral morphology	Pathogenic	rs2148320944	RCV002275895	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bilateral frontoparietal polymicrogyria	Likely pathogenic; Pathogenic	rs777643880, rs556518689, rs746634404, rs774109607, rs2148318641, rs587783658, rs146278035, rs587783660, rs532188689, rs587783652, rs587783655, rs587783656, rs587783657, rs786204777, rs2545340801, rs2545371984, rs797045602, rs797045600, rs1597578721, rs587776623, rs587776624, rs587776625, rs750996728, rs121908463, rs121908464, rs121908465, rs121908466, rs2545466822, rs2044043031, rs755004355, rs2545394587, rs866608532, rs1057517949, rs1047016803, rs780718243, rs1567815105, rs1567782714, rs768441855, rs763238723, rs764367185, rs2044043566, rs2148610313	RCV001731171 RCV003328489 RCV003222356 RCV005006305 RCV002262171 RCV000146050 RCV000146051 RCV000146056 RCV000146059 RCV000146038 RCV000146042 RCV000146047 RCV000146049 RCV000169661 RCV002510612 RCV005616479 RCV000193721 RCV000194408 RCV005616489 RCV000006182 RCV000006183 RCV000006184 RCV005616484 RCV000006186 RCV000006187 RCV000006188 RCV000006189 RCV003317886 RCV003328111 RCV003389379 RCV005616730 RCV005013262 RCV001833497 RCV001835796 RCV001271447 RCV003328449 RCV000754627 RCV005010758 RCV005021250 RCV005614488 RCV002504230 RCV001255739	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polymicrogyria, bilateral perisylvian, autosomal recessive	Likely pathogenic; Pathogenic	rs587777312, rs774109607, rs587783652, rs2545340801, rs587776625, rs866608532, rs1057517949, rs780718243, rs768441855, rs763238723, rs2044043566	RCV000114942 RCV005006305 RCV000762976 RCV003340499 RCV005016244 RCV005013262 RCV005010311 RCV005010412 RCV005010758 RCV005021250 RCV002504230	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of the nervous system	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ADGRG1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL PERISYLVIAN POLYMICROGYRIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myopathy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 14A	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 14B	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED SEIZURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACEREBRAL HEMORRHAGE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROGYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERISYLVIAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STRABISMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	30214063, 30848055		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23902976		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	15674329		★☆☆☆☆ Found in Text Mining only
Bilateral frontoparietal polymicrogyria	Bilateral Frontoparietal Polymicrogyria	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bilateral perisylvian polymicrogyria	Perisylvian Polymicrogyria	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile Duct Neoplasms	Bile duct neoplasms	Pubtator	35413272	Associate	★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	30511534	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33837725, 34944065	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23651211	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27881002		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	30335165	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	20929962		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	BEFREE	24102982		★☆☆☆☆ Found in Text Mining only
Cobblestone Lissencephaly	Cobblestone Lissencephaly	BEFREE	21768377		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	31444231	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28380450, 30066935, 31444231		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26894861, 31444231, 36759728	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	31444231		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33837725	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	20374731, 20929962, 21618828, 22235340, 22238662, 24949629, 25642806		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	25922261		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	23274687		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30941121	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34224919	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29855662		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29861058		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12730993, 16240336, 19016831, 20929962, 21349848, 21708946, 23981349, 24531968, 25607655, 25642806		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome, Type IV	Ehlers-Danlos Syndrome	BEFREE	22235340		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	24013853		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	19016831	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	21723461, 25642806		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	27881002		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	30982090		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	15674329, 29166609		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25356585	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15674329, 29166609		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	15674329, 29166609		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27396430, 37056198	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	24742924	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	35222428	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	BEFREE	19016831, 23981349		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	30848055, 35253392, 35750691	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27258612, 30848055, 31153896, 35253392	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27063597, 30214063, 30405880, 30848055		★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	20929962		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37378668	Stimulate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	19016831, 37056198	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	BEFREE	23274687		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27881002		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20333450		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17575113, 20374731, 21618829, 29166609, 30066935, 30135857		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10100861, 20333450, 20374731, 27818281, 27881002		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	17314516		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	27396430, 27818281	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	36865544	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	29450192		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	12730993, 16240336, 19016831, 20929962, 21349848, 21708946, 23981349, 24531968, 25607655, 25642806		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30867424		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	30867424	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15674329, 16757564, 17575113, 20008459, 29166609, 30066935, 31444231		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28424266		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	27396430	Associate	★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27881002		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	17932623		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	28771574		★☆☆☆☆ Found in Text Mining only
Perisylvian syndrome	Perisylvian Syndrome	ORPHANET_DG	24531968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyarteritis Nodosa	Polyarteritis Nodosa	BEFREE	29166609		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	BEFREE	29166609		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	23720412	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	15863665, 16240336, 19245832, 20929962, 23981349, 25695135, 25922261		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	27184850, 34848785	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria Bilateral Frontoparietal	Polymicrogyria	Pubtator	19016831, 21723461, 28424266, 30511534, 37056198	Associate	★☆☆☆☆ Found in Text Mining only
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	Polymicrogyria	UNIPROT_DG	15044805, 16240336, 21349848, 21723461, 22238662, 24949629		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	Polymicrogyria	CLINVAR_DG	15044805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	Polymicrogyria	GENOMICS_ENGLAND_DG	15044805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	Polymicrogyria	BEFREE	15863665, 15921228, 16240336, 16724181, 17575113, 17576745, 18042463, 19016831, 20374731, 20929962, 21349848, 21618828, 21723461, 22235340, 22238662, 23274687, 23981349, 24102982, 24949629, 25642806, 25922261, 28424266, 30982090		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	Polymicrogyria	ORPHANET_DG	21349848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	Polymicrogyria	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE	Polymicrogyria	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE	Polymicrogyria	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Prostate cancer, familial	Prostate cancer	CTD_human_DG	29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1	Prostate Cancer, Hereditary	CTD_human_DG	29892016		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20333450		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	GWASCAT_DG	29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36095024	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31382977, 34321876	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	24742924	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28690029		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	30511534	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	22235340		★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	19016831	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	15916848		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	15916848		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis	Thrombosis	Pubtator	35955827	Associate	★☆☆☆☆ Found in Text Mining only