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
• Disease Acronyms (UniProt): CDCBM14B
• 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:0004930	Function	G protein-coupled receptor activity	IBA	21873635
GO:0004930	Function	G protein-coupled receptor activity	ISS
GO:0005515	Function	Protein binding	IPI	28258187
GO:0005518	Function	Collagen binding	ISS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0007155	Process	Cell adhesion	IDA	27068534
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	10049584, 15004227
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007266	Process	Rho protein signal transduction	IDA	21708946
GO:0007267	Process	Cell-cell signaling	TAS	10049584
GO:0007420	Process	Brain development	IMP	15044805
GO:0008201	Function	Heparin binding	IBA	21873635
GO:0008201	Function	Heparin binding	IDA	27068534
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	16757564
GO:0010573	Process	Vascular endothelial growth factor production	IDA	21724588
GO:0016021	Component	Integral component of membrane	TAS	15004227
GO:0016477	Process	Cell migration	IDA	27068534
GO:0021796	Process	Cerebral cortex regionalization	IEA
GO:0021801	Process	Cerebral cortex radial glia guided migration	ISS
GO:0021819	Process	Layer formation in cerebral cortex	ISS
GO:0035025	Process	Positive regulation of Rho protein signal transduction	ISS
GO:0045121	Component	Membrane raft	IEA
GO:0045785	Process	Positive regulation of cell adhesion	IDA	21349848
GO:0050840	Function	Extracellular matrix binding	ISS
GO:0061484	Process	Hematopoietic stem cell homeostasis	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070528	Process	Protein kinase C signaling	IDA	21724588
GO:0072520	Process	Seminiferous tubule development	IEA
GO:0097451	Component	Glial limiting end-foot	ISS
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	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

Causal
Disease term	Disease name	dbSNP ID	References
Bilateral frontoparietal polymicrogyria	Bilateral frontoparietal polymicrogyria	rs587776623, rs587776624, rs587776625, rs121908463, rs121908464, rs121908465, rs121908466, rs587783658, rs146278035, rs587783660, rs532188689, rs587783652, rs587783655, rs587783656, rs587783657, rs786204777, rs797045602, rs797045600, rs1057517949, rs1047016803, rs780718243, rs1567815105, rs1567782714, rs768441855
Congenital muscular dystrophy	Congenital muscular dystrophy (disorder)	rs1565627745, rs774985604, rs1565629479, rs121913572, rs121913575, rs121913576, rs58932704, rs58912633, rs121912495, rs121912496, rs60458016, rs387906881, rs750764003, rs387907068, rs786205117, rs387907069, rs786205118, rs267607600, rs61672878, rs57629361, rs61444459, rs60872029, rs587780362, rs141554661, rs864309525, rs371751084, rs914395925, rs1060505038, rs766046008, rs1060505039, rs750781027, rs761612652, rs1060505040, rs749383757, rs776548207, rs1554269966, rs373091820, rs1553261891, rs1474512248, rs1333100080, rs1246940477, rs1554320168, rs372328960, rs1217190017, rs750756707, rs1555894289, rs1296761337, rs1562530132, rs1569054508, rs1565622052, rs1415944134, rs1565620275, rs752436924, rs1569054086, rs1583149141, rs17854600, rs757369551, rs755438542, rs1872274494, rs1874440714
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Polymicrogyria	Polymicrogyria, POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE, POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	rs1558010146, rs1558003446, rs1575508937	22238662, 15044805, 21349848, 24949629, 21723461, 16240336
Prostate cancer	Prostate carcinoma, Prostate cancer, familial	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29892016
Prostate cancer, hereditary	PROSTATE CANCER, HEREDITARY, 1	rs387906327, rs193929331, rs74315365, rs397516896, rs794729219, rs121913349, rs587782641, rs1114167673, rs1597371666, rs2073394466	29892016
Seizure	Generalized seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease term	Disease name	Evidence	References	Source
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	23902976
Bile Duct Neoplasms	Associate	35413272
Brain Stem Neoplasms	Associate	30511534
Carcinogenesis	Associate	33837725, 34944065
Carcinoma Hepatocellular	Associate	23651211
Carcinoma Non Small Cell Lung	Stimulate	32856858
Carotid Stenosis	Associate	30335165
Colonic Neoplasms	Stimulate	31444231
Colorectal Neoplasms	Associate	26894861, 31444231, 36759728
Colorectal Neoplasms	Stimulate	33837725
Diabetes Mellitus	Associate	30941121
Diabetes Mellitus Type 2	Associate	34224919
Drug Related Side Effects and Adverse Reactions	Associate	35750691, 36759728
Epilepsy	Associate	19016831
Fibrosis	Associate	35222428
Glioblastoma	Associate	25356585
Glioma	Associate	27396430, 37056198
Glucose Intolerance	Associate	30941121
Heredodegenerative Disorders Nervous System	Associate	21723461
HIV Infections	Associate	30941121
Idiopathic Pulmonary Fibrosis	Inhibit	24742924
Idiopathic Pulmonary Fibrosis	Associate	35222428
Inflammation	Associate	34321876
Lennox Gastaut Syndrome	Associate	19016831
Leukemia	Associate	30848055, 35253392, 35750691
Leukemia Myeloid Acute	Associate	27258612, 30848055, 31153896, 35253392
Lung Neoplasms	Stimulate	37378668
Malformations of Cortical Development	Associate	19016831, 37056198
Melanoma	Associate	27396430, 27818281
Metabolic Syndrome	Associate	36865544
Multiple Sclerosis	Associate	30867424
Neoplasm Metastasis	Associate	27396430, 38187400
Neoplasms	Associate	23651211, 24742924, 26894861, 27396430, 31444231, 38187400
Neuroinflammatory Diseases	Associate	33069246
Neurologic Manifestations	Associate	28424266
Osteosarcoma	Associate	27396430
Polycythemia Vera	Associate	23720412
Polymicrogyria	Associate	27184850, 34848785
Polymicrogyria Bilateral Frontoparietal	Associate	19016831, 21723461, 28424266, 30511534, 37056198
Prostatic Neoplasms	Associate	36095024
Pulmonary Disease Chronic Obstructive	Associate	31382977, 34321876
Pulmonary Fibrosis	Associate	24742924
Seizures	Associate	30511534
Spasms Infantile	Associate	19016831
Thrombosis	Associate	35955827