CADM1 (cell adhesion molecule 1)

Gene

• Entrez ID: 23705
• Gene name: Cell adhesion molecule 1
• Gene symbol: CADM1
• Synonyms (NCBI Gene): BL2, IGSF4, IGSF4A, NECL2, Necl-2, RA175, ST17, SYNCAM, TSLC1, sTSLC-1, sgIGSF, synCAM1
• Chromosome: 11
• Chromosome location: 11q23.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003888	hsa-miR-15a-5p	Reporter assay, qRT-PCR	18362358
MIRT004382	hsa-miR-16-5p	Reporter assay, qRT-PCR	18362358
MIRT004167	hsa-miR-192-5p	Microarray	16822819
MIRT029576	hsa-miR-26b-5p	Microarray	19088304
MIRT042379	hsa-miR-484	CLASH	23622248
MIRT036901	hsa-miR-877-3p	CLASH	23622248
MIRT054846	hsa-miR-182-5p	Luciferase reporter assay, qRT-PCR, Western blot	24445397
MIRT438847	hsa-miR-486-5p	qRT-PCR	23294929
MIRT438815	hsa-miR-214-3p	Luciferase reporter assay	23301758
MIRT438847	hsa-miR-486-5p	qRT-PCR	23294929
MIRT438815	hsa-miR-214-3p	Luciferase reporter assay	23301758
MIRT708158	hsa-miR-7161-3p	HITS-CLIP	21572407
MIRT708157	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT708156	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT708155	hsa-miR-6083	HITS-CLIP	21572407
MIRT708154	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT574844	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT438847	hsa-miR-486-5p	PAR-CLIP	20371350
MIRT574848	hsa-miR-10a-5p	PAR-CLIP	20371350
MIRT574847	hsa-miR-10b-5p	PAR-CLIP	20371350
MIRT574846	hsa-miR-652-5p	PAR-CLIP	20371350
MIRT574845	hsa-miR-6732-3p	PAR-CLIP	20371350
MIRT574844	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT574843	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT574842	hsa-miR-7852-3p	PAR-CLIP	20371350
MIRT574841	hsa-miR-140-3p	PAR-CLIP	20371350
MIRT574840	hsa-miR-4703-3p	PAR-CLIP	20371350
MIRT058253	hsa-let-7a-2-3p	PAR-CLIP	20371350
MIRT058254	hsa-let-7g-3p	PAR-CLIP	20371350
MIRT574839	hsa-miR-3692-3p	PAR-CLIP	20371350
MIRT538752	hsa-miR-548an	PAR-CLIP	22012620
MIRT538751	hsa-miR-6768-3p	PAR-CLIP	22012620
MIRT538750	hsa-miR-4484	PAR-CLIP	22012620
MIRT538749	hsa-miR-4475	PAR-CLIP	22012620
MIRT538748	hsa-miR-6512-5p	PAR-CLIP	22012620
MIRT538747	hsa-miR-4327	PAR-CLIP	22012620
MIRT538746	hsa-miR-6892-5p	PAR-CLIP	22012620
MIRT538745	hsa-miR-1273e	PAR-CLIP	22012620
MIRT538744	hsa-miR-6885-3p	PAR-CLIP	22012620
MIRT494397	hsa-miR-4428	PAR-CLIP	23592263
MIRT494396	hsa-miR-361-3p	PAR-CLIP	23592263
MIRT494395	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT494394	hsa-miR-4479	PAR-CLIP	23592263
MIRT494393	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT494392	hsa-miR-4306	PAR-CLIP	23592263
MIRT494391	hsa-miR-4644	PAR-CLIP	23592263
MIRT732065	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	26464628
MIRT732065	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	26464628
MIRT736208	hsa-miR-25-3p	Microarray	31919459
MIRT737429	hsa-miR-424-5p	Western blotting, Microarray	31819525
MIRT708158	hsa-miR-7161-3p	HITS-CLIP	21572407
MIRT708157	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT708156	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT708155	hsa-miR-6083	HITS-CLIP	21572407
MIRT708154	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT574844	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT438847	hsa-miR-486-5p	PAR-CLIP	20371350
MIRT574848	hsa-miR-10a-5p	PAR-CLIP	20371350
MIRT574847	hsa-miR-10b-5p	PAR-CLIP	20371350
MIRT574846	hsa-miR-652-5p	PAR-CLIP	20371350
MIRT574845	hsa-miR-6732-3p	PAR-CLIP	20371350
MIRT574844	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT574843	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT574842	hsa-miR-7852-3p	PAR-CLIP	20371350
MIRT574841	hsa-miR-140-3p	PAR-CLIP	20371350
MIRT574840	hsa-miR-4703-3p	PAR-CLIP	20371350
MIRT058253	hsa-let-7a-2-3p	PAR-CLIP	20371350
MIRT058254	hsa-let-7g-3p	PAR-CLIP	20371350
MIRT574839	hsa-miR-3692-3p	PAR-CLIP	20371350
MIRT538752	hsa-miR-548an	PAR-CLIP	22012620
MIRT538751	hsa-miR-6768-3p	PAR-CLIP	22012620
MIRT538750	hsa-miR-4484	PAR-CLIP	22012620
MIRT538749	hsa-miR-4475	PAR-CLIP	22012620
MIRT538748	hsa-miR-6512-5p	PAR-CLIP	22012620
MIRT538747	hsa-miR-4327	PAR-CLIP	22012620
MIRT538746	hsa-miR-6892-5p	PAR-CLIP	22012620
MIRT538745	hsa-miR-1273e	PAR-CLIP	22012620
MIRT538744	hsa-miR-6885-3p	PAR-CLIP	22012620
MIRT494397	hsa-miR-4428	PAR-CLIP	23592263
MIRT494396	hsa-miR-361-3p	PAR-CLIP	23592263
MIRT494395	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT494394	hsa-miR-4479	PAR-CLIP	23592263
MIRT494393	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT494392	hsa-miR-4306	PAR-CLIP	23592263
MIRT494391	hsa-miR-4644	PAR-CLIP	23592263
MIRT858452	hsa-miR-101	CLIP-seq
MIRT858453	hsa-miR-124	CLIP-seq
MIRT858454	hsa-miR-1279	CLIP-seq
MIRT858455	hsa-miR-144	CLIP-seq
MIRT858456	hsa-miR-15a	CLIP-seq
MIRT858457	hsa-miR-15b	CLIP-seq
MIRT858458	hsa-miR-16	CLIP-seq
MIRT858459	hsa-miR-193a-3p	CLIP-seq
MIRT858460	hsa-miR-193b	CLIP-seq
MIRT858461	hsa-miR-194	CLIP-seq
MIRT858462	hsa-miR-195	CLIP-seq
MIRT858463	hsa-miR-1972	CLIP-seq
MIRT858464	hsa-miR-2052	CLIP-seq
MIRT858465	hsa-miR-2054	CLIP-seq
MIRT858466	hsa-miR-23a	CLIP-seq
MIRT858467	hsa-miR-23b	CLIP-seq
MIRT858468	hsa-miR-23c	CLIP-seq
MIRT858469	hsa-miR-25	CLIP-seq
MIRT858470	hsa-miR-3065-5p	CLIP-seq
MIRT858471	hsa-miR-3143	CLIP-seq
MIRT858472	hsa-miR-3176	CLIP-seq
MIRT858473	hsa-miR-32	CLIP-seq
MIRT858474	hsa-miR-3607-3p	CLIP-seq
MIRT858475	hsa-miR-3613-3p	CLIP-seq
MIRT858476	hsa-miR-363	CLIP-seq
MIRT858477	hsa-miR-367	CLIP-seq
MIRT858478	hsa-miR-3686	CLIP-seq
MIRT858479	hsa-miR-375	CLIP-seq
MIRT858480	hsa-miR-3922-3p	CLIP-seq
MIRT858481	hsa-miR-424	CLIP-seq
MIRT858482	hsa-miR-4289	CLIP-seq
MIRT858483	hsa-miR-4329	CLIP-seq
MIRT858484	hsa-miR-4668-5p	CLIP-seq
MIRT858485	hsa-miR-4716-3p	CLIP-seq
MIRT858486	hsa-miR-4716-5p	CLIP-seq
MIRT858487	hsa-miR-4717-5p	CLIP-seq
MIRT858488	hsa-miR-4762-5p	CLIP-seq
MIRT858489	hsa-miR-494	CLIP-seq
MIRT858490	hsa-miR-495	CLIP-seq
MIRT858491	hsa-miR-497	CLIP-seq
MIRT858492	hsa-miR-505	CLIP-seq
MIRT858493	hsa-miR-506	CLIP-seq
MIRT858494	hsa-miR-543	CLIP-seq
MIRT858495	hsa-miR-545	CLIP-seq
MIRT858496	hsa-miR-548ac	CLIP-seq
MIRT858497	hsa-miR-548ae	CLIP-seq
MIRT858498	hsa-miR-548aj	CLIP-seq
MIRT858499	hsa-miR-548am	CLIP-seq
MIRT858500	hsa-miR-548d-3p	CLIP-seq
MIRT858501	hsa-miR-548x	CLIP-seq
MIRT858502	hsa-miR-548z	CLIP-seq
MIRT858503	hsa-miR-577	CLIP-seq
MIRT858504	hsa-miR-600	CLIP-seq
MIRT858505	hsa-miR-625	CLIP-seq
MIRT858506	hsa-miR-92a	CLIP-seq
MIRT858507	hsa-miR-92b	CLIP-seq
MIRT858452	hsa-miR-101	CLIP-seq
MIRT858463	hsa-miR-1972	CLIP-seq
MIRT858508	hsa-miR-214	CLIP-seq
MIRT858509	hsa-miR-219-1-3p	CLIP-seq
MIRT858510	hsa-miR-3117-5p	CLIP-seq
MIRT858511	hsa-miR-3129-3p	CLIP-seq
MIRT858512	hsa-miR-3148	CLIP-seq
MIRT858513	hsa-miR-3619-5p	CLIP-seq
MIRT858514	hsa-miR-3667-3p	CLIP-seq
MIRT858515	hsa-miR-3679-3p	CLIP-seq
MIRT858516	hsa-miR-4297	CLIP-seq
MIRT858517	hsa-miR-4446-5p	CLIP-seq
MIRT858518	hsa-miR-4690-5p	CLIP-seq
MIRT858519	hsa-miR-4698	CLIP-seq
MIRT858487	hsa-miR-4717-5p	CLIP-seq
MIRT858520	hsa-miR-4742-5p	CLIP-seq
MIRT858521	hsa-miR-514	CLIP-seq
MIRT858522	hsa-miR-514b-3p	CLIP-seq
MIRT858523	hsa-miR-761	CLIP-seq
MIRT858452	hsa-miR-101	CLIP-seq
MIRT1954945	hsa-miR-10a	CLIP-seq
MIRT1954946	hsa-miR-10b	CLIP-seq
MIRT1954947	hsa-miR-1228	CLIP-seq
MIRT1954948	hsa-miR-1252	CLIP-seq
MIRT858455	hsa-miR-144	CLIP-seq
MIRT858461	hsa-miR-194	CLIP-seq
MIRT1954949	hsa-miR-205	CLIP-seq
MIRT1954950	hsa-miR-2116	CLIP-seq
MIRT1954951	hsa-miR-329	CLIP-seq
MIRT1954952	hsa-miR-3614-5p	CLIP-seq
MIRT1954953	hsa-miR-362-3p	CLIP-seq
MIRT1954954	hsa-miR-3678-3p	CLIP-seq
MIRT1954955	hsa-miR-3692	CLIP-seq
MIRT858488	hsa-miR-4762-5p	CLIP-seq
MIRT1954956	hsa-miR-561	CLIP-seq
MIRT1954957	hsa-miR-759	CLIP-seq
MIRT2192532	hsa-miR-1271	CLIP-seq
MIRT2192533	hsa-miR-139-3p	CLIP-seq
MIRT2192534	hsa-miR-182	CLIP-seq
MIRT1954955	hsa-miR-3692	CLIP-seq
MIRT2192535	hsa-miR-412	CLIP-seq
MIRT2192536	hsa-miR-4324	CLIP-seq
MIRT858483	hsa-miR-4329	CLIP-seq
MIRT2192537	hsa-miR-4420	CLIP-seq
MIRT2192538	hsa-miR-4476	CLIP-seq
MIRT2192539	hsa-miR-450b-5p	CLIP-seq
MIRT858488	hsa-miR-4762-5p	CLIP-seq
MIRT858492	hsa-miR-505	CLIP-seq
MIRT2192540	hsa-miR-570	CLIP-seq
MIRT2192541	hsa-miR-96	CLIP-seq
MIRT2495770	hsa-miR-1305	CLIP-seq
MIRT2495771	hsa-miR-1323	CLIP-seq
MIRT2495772	hsa-miR-3689a-3p	CLIP-seq
MIRT2495773	hsa-miR-3689c	CLIP-seq
MIRT2495774	hsa-miR-4426	CLIP-seq
MIRT2495775	hsa-miR-4647	CLIP-seq
MIRT2495776	hsa-miR-4662b	CLIP-seq
MIRT2495777	hsa-miR-4728-5p	CLIP-seq
MIRT2495778	hsa-miR-548o	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001819	Process	Positive regulation of cytokine production	IDA	15811952
GO:0001913	Process	T cell mediated cytotoxicity	IDA	15811952
GO:0005102	Function	Signaling receptor binding	IPI	15811952
GO:0005102	Function	Signaling receptor binding	ISS	12826663
GO:0005515	Function	Protein binding	IPI	12234973, 20479255, 23871486, 25416956
GO:0005886	Component	Plasma membrane	IDA	15811952
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	ISS	12826663
GO:0006915	Process	Apoptotic process	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	ISS	12826663
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS	12826663
GO:0007275	Process	Multicellular organism development	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008037	Process	Cell recognition	IDA	15811952
GO:0008037	Process	Cell recognition	ISS	12826663
GO:0016021	Component	Integral component of membrane	IEA
GO:0016032	Process	Viral process	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS	12826663
GO:0030154	Process	Cell differentiation	IEA
GO:0030165	Function	PDZ domain binding	ISS	12826663
GO:0034332	Process	Adherens junction organization	TAS
GO:0042271	Process	Susceptibility to natural killer cell mediated cytotoxicity	IBA	21873635
GO:0042271	Process	Susceptibility to natural killer cell mediated cytotoxicity	IDA	15811952
GO:0042271	Process	Susceptibility to natural killer cell mediated cytotoxicity	ISS	12826663
GO:0042803	Function	Protein homodimerization activity	ISS	12826663
GO:0045202	Component	Synapse	IEA
GO:0045954	Process	Positive regulation of natural killer cell mediated cytotoxicity	IDA	15811952
GO:0045954	Process	Positive regulation of natural killer cell mediated cytotoxicity	ISS	12826663
GO:0050798	Process	Activated T cell proliferation	IDA	15811952
GO:0051606	Process	Detection of stimulus	IDA	15811952
GO:0051606	Process	Detection of stimulus	ISS	12826663

Other IDs

• MIM: 605686
• HGNC: 5951
• e!Ensembl: ENSG00000182985

Protein

• UniProt ID: Q9BY67
• Protein name: Cell adhesion molecule 1 (Immunoglobulin superfamily member 4) (IgSF4) (Nectin-like protein 2) (NECL-2) (Spermatogenic immunoglobulin superfamily) (SgIgSF) (Synaptic cell adhesion molecule) (SynCAM) (Tumor suppressor in lung cancer 1) (TSLC-1)
• Protein function: Mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner (PubMed:12050160, PubMed:22438059). Also mediates heterophilic cell-cell adhesion with CADM3 and NECTIN3 in a Ca(2+)-independent manner (By similarity). Interaction with CRTAM
• PDB: 3BIN, 4H5S
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	49 → 142	Immunoglobulin V-set domain	Domain
  PF08205	C2-set_2	148 → 230	CD80-like C2-set immunoglobulin domain	Domain
  PF13927	Ig_3	242 → 317		Domain

• Sequence:

  MASVVLPSGSQCAAAAAAAAPPGLRLRLLLLLFSAAALIPTGDGQNLFTKDVTVIEGEVA
  TISCQVNKSDDSVIQLLNPNRQTIYFRDFRPLKDSRFQLLNFSSSELKVSLTNVSISDEG
  RYFCQLYTDPPQESYTTITVLVPPRNLMIDIQKDTAVEGEEIEVNCTAMASKPATTIRWF
  KGNTELKGKSEVEEWSDMYTVTSQLMLKVHKEDDGVPVICQVEHPAVTGNLQTQRYLEVQ
  YKPQVHIQMTYPLQGLTREGDALELTCEAIGKPQPVMVTWVRVDDEMPQHAVLSGPNLFI
  NNLNKTDNGTYRCEASNIVGKAHSDYMLYVYDPPTTIPPPTTTTTTTTTTTTTILTIITD
  SRAGEEGSIRAVDHAVIGGVVAVVVFAMLCLLIILGRYFARHKGTYFTHEAKGADDAADA
  DTAIINAEGGQNNSEEKKEYFI

• Sequence length: 442

Pathways

KEGG:

Cell adhesion molecules

Reactome:

Adherens junctions interactions
Nectin/Necl trans heterodimerization

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542	18957284
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	17260099
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	17260099
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	17260099

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Endogenous depression, Depressive disorder, Unipolar Depression, Depressive Syndrome, Depression, Neurotic		22113448	ClinVar
Autism Spectrum Disorder	autism spectrum disorder			GenCC
Metabolic Syndrome	Metabolic Syndrome			GWAS
Anorexia	Anorexia			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Restless Legs Syndrome	Restless Legs Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	12432281, 12942568, 24367507
Adenocarcinoma Bronchiolo Alveolar	Associate	26231557
Adenocarcinoma of Lung	Associate	12942568, 33205911
Adenocarcinoma of Lung	Inhibit	16108829
Agnosia	Associate	25065733
Alzheimer Disease	Stimulate	39596356
Alzheimer Disease	Associate	40430038
Anorexia Nervosa	Associate	35470453
Arthritis Rheumatoid	Associate	36851682
Atrial Fibrillation	Associate	36604807
Autistic Disorder	Associate	23575222
Bacteremia	Stimulate	34294150
Brain Neoplasms	Associate	24833255
Breast Neoplasms	Associate	22106898, 36536459
Breast Neoplasms	Inhibit	23504322, 24833255
Carcinogenesis	Inhibit	16083501, 17009984
Carcinogenesis	Associate	20208141, 23136087, 33663040
Carcinoma Adenosquamous	Associate	16534787
Carcinoma Hepatocellular	Associate	22528944, 25159494
Carcinoma Hepatocellular	Inhibit	29734164
Carcinoma Large Cell	Associate	16534787
Carcinoma Non Small Cell Lung	Associate	12432281, 12716461, 16534787, 17009984, 21436696, 23838140
Carcinoma Non Small Cell Lung	Inhibit	12942568
Carcinoma Ovarian Epithelial	Associate	27146728, 28637314
Carcinoma Pancreatic Ductal	Associate	12432281, 18820670
Carcinoma Renal Cell	Inhibit	25031695
Carcinoma Squamous Cell	Associate	19047905, 25065733, 27424798
Celiac Disease	Associate	30998704
Cell Transformation Neoplastic	Inhibit	18219112
Colorectal Neoplasms	Associate	35845138
Cystadenoma	Inhibit	21436696
Cystadenoma Serous	Stimulate	33663040
Emphysematous Cholecystitis	Stimulate	24092566
Esophageal Squamous Cell Carcinoma	Associate	23310950, 28510248
Gastrointestinal Stromal Tumors	Associate	34257559
Genetic Diseases Inborn	Associate	23301758
Glioblastoma	Associate	29921422
Glioma	Inhibit	25031725
Hematologic Neoplasms	Associate	34294150
Hereditary leiomyomatosis and renal cell cancer	Associate	20709797
Hodgkin Disease	Inhibit	20709797
Hyperaldosteronism	Associate	37291193
Hypertension	Associate	37291193
Hypomagnesemia primary	Associate	31067838
Hypoxia	Inhibit	23301758
Idiopathic Interstitial Pneumonias	Associate	26231557
Infections	Inhibit	25845528
Infections	Associate	27105228
Inflammation	Associate	34312415
Intestinal Diseases	Stimulate	34257559
Ischemic Stroke	Associate	35441431
Laryngeal Neoplasms	Associate	23136087
Leukemia	Associate	20215110, 37814227
Leukemia Biphenotypic Acute	Associate	21045196
Leukemia Lymphocytic Chronic B Cell	Associate	19897574, 6190520
Leukemia Lymphoma Adult T Cell	Stimulate	15471956
Leukemia Lymphoma Adult T Cell	Associate	20215110, 28420814, 30837480, 31515833, 31642546, 36851682
Leukemia Monocytic Acute	Associate	21045196
Leukemia Myeloid Acute	Associate	19835597, 21045196
Lung Neoplasms	Associate	21067843
Lymphatic Metastasis	Inhibit	21436696, 28510248
Lymphatic Metastasis	Associate	23136087, 33663040
Lymphoma	Associate	28420814
Lymphoma B Cell	Associate	6190520
Lymphoma Large B Cell Diffuse	Associate	18288132
Lymphoma Large Cell Anaplastic	Associate	31515833
Lymphoma Non Hodgkin	Associate	24998186
Meibomian Gland Dysfunction	Inhibit	21372006
Melanoma	Inhibit	30911007, 33000202
Mesothelioma Malignant	Inhibit	18332875
Mouth Diseases	Associate	30172480
Multiple Myeloma	Associate	37019174
Mycosis Fungoides	Associate	31515833
Myelodysplastic Syndromes	Inhibit	21286011
Nasopharyngeal Carcinoma	Associate	16229803, 21535891
Nasopharyngeal Neoplasms	Associate	29070520
Neoplasm Invasiveness	Inhibit	17009984
Neoplasm Metastasis	Associate	21436696, 22528944, 24833255, 29921422, 33205911
Neoplasm Metastasis	Inhibit	27424798
Neoplasms	Inhibit	12050160, 12432281, 12716461, 12942568, 15471956, 16083501, 16108829, 16229803, 16534787, 18332875, 19897574, 21062931, 21067843, 21436696, 21880726, 21999220, 23136087, 23301758, 23504322, 23838140, 24252461, 24833255, 25031695, 25031725, 25065733, 27146728, 27572307, 27754579, 28510248, 29070520, 30608989, 30911007, 31389606, 31865146, 32466334, 34974810, 38030062
Neoplasms	Associate	16532039, 18165272, 24508839, 24998186, 25845528, 26768780, 27367901, 27424798, 28420814, 28651491, 29921422, 34257559, 36523593
Neoplasms Squamous Cell	Associate	31515833
Oropharyngeal Neoplasms	Associate	34974810
Osteosarcoma	Associate	30153287, 38191892
Ovarian Neoplasms	Inhibit	21436696, 31865146
Ovarian Neoplasms	Associate	33663040, 34395181
Pancreatic Intraductal Neoplasms	Associate	18820670
Pancreatic Neoplasms	Associate	12432281, 28904340
Prostatic Neoplasms	Associate	21062931, 8689504
Protein C Deficiency	Associate	25306186
Retinoblastoma	Associate	22278416
Sezary Syndrome	Stimulate	31515833
Squamous Cell Carcinoma of Head and Neck	Inhibit	23136087
Squamous Cell Carcinoma of Head and Neck	Associate	25065733, 37114505, 38030062
Squamous Intraepithelial Lesions	Associate	15368319, 18181097, 26552048, 31067838, 35241698
Squamous Intraepithelial Lesions	Stimulate	30608989
Status Asthmaticus	Associate	25338211
Stomach Neoplasms	Associate	12716461, 31389606
Tertiary Lymphoid Structures	Associate	12942568, 24833255
Thalassemia	Inhibit	22207107
Thyroid Cancer Papillary	Associate	36523593
Thyroid Neoplasms	Associate	36523593
Triple Negative Breast Neoplasms	Associate	23948975, 26908167, 31836816, 36536459
Uterine Cervical Dysplasia	Inhibit	17009984
Uterine Cervical Dysplasia	Stimulate	24508839
Uterine Cervical Dysplasia	Associate	30135508, 35241698
Uterine Cervical Neoplasms	Inhibit	17009984, 25845528
Uterine Cervical Neoplasms	Associate	17971771, 20208141, 23176198, 26517242, 26552048, 26768780, 30135508, 31067838, 40534305
Uterine Cervicitis	Associate	20208141, 31067838, 35241698
Uveal melanoma	Associate	35426938
Venous Thrombosis	Associate	19643986, 25306186