SETD1A (SET domain containing 1A, histone lysine methyltransferase)

Gene

• Entrez ID: 9739
• Gene name: SET domain containing 1A, histone lysine methyltransferase
• Gene symbol: SETD1A
• Synonyms (NCBI Gene): EPEDD, EPEO2, KMT2F, NEDSID, Set1, Set1A
• Disease Acronyms (UniProt): EPEO2, NEDSID
• Chromosome: 16
• Chromosome location: 16p11.2
• Summary: The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs770913157	C>G,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs869312829	A>G	Pathogenic	Splice acceptor variant
rs869312830	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs869312831	C>T	Pathogenic	Stop gained, coding sequence variant
rs869312832	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555488653	A>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051709	hsa-let-7e-5p	CLASH	23622248
MIRT044797	hsa-miR-320a	CLASH	23622248
MIRT044067	hsa-miR-361-5p	CLASH	23622248
MIRT040819	hsa-miR-18a-3p	CLASH	23622248
MIRT036712	hsa-miR-760	CLASH	23622248
MIRT711595	hsa-miR-5003-3p	HITS-CLIP	19536157
MIRT711594	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT711593	hsa-miR-2276-5p	HITS-CLIP	19536157
MIRT711592	hsa-miR-3183	HITS-CLIP	19536157
MIRT711591	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT711590	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT711589	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT711588	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT711587	hsa-miR-676-5p	HITS-CLIP	19536157
MIRT711586	hsa-miR-642a-5p	HITS-CLIP	19536157
MIRT711585	hsa-miR-4755-5p	HITS-CLIP	19536157
MIRT711583	hsa-miR-5006-3p	HITS-CLIP	19536157
MIRT711584	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT696118	hsa-miR-548av-3p	HITS-CLIP	23313552
MIRT696117	hsa-miR-548g-3p	HITS-CLIP	23313552
MIRT696116	hsa-miR-942-3p	HITS-CLIP	23313552
MIRT696115	hsa-miR-5195-5p	HITS-CLIP	23313552
MIRT696114	hsa-miR-4716-3p	HITS-CLIP	23313552
MIRT696113	hsa-miR-6794-5p	HITS-CLIP	23313552
MIRT696112	hsa-miR-6890-3p	HITS-CLIP	23313552
MIRT696111	hsa-miR-6798-5p	HITS-CLIP	23313552
MIRT696110	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT696109	hsa-miR-1915-3p	HITS-CLIP	23313552
MIRT696108	hsa-miR-6764-5p	HITS-CLIP	23313552
MIRT696107	hsa-miR-1913	HITS-CLIP	23313552
MIRT696106	hsa-miR-324-3p	HITS-CLIP	23313552
MIRT696105	hsa-miR-6846-3p	HITS-CLIP	23313552
MIRT696104	hsa-miR-4252	HITS-CLIP	23313552
MIRT696103	hsa-miR-5699-5p	HITS-CLIP	23313552
MIRT696102	hsa-miR-4758-3p	HITS-CLIP	23313552
MIRT696101	hsa-miR-3189-5p	HITS-CLIP	23313552
MIRT696100	hsa-miR-6878-5p	HITS-CLIP	23313552
MIRT696099	hsa-miR-3175	HITS-CLIP	23313552
MIRT696098	hsa-miR-4723-5p	HITS-CLIP	23313552
MIRT696097	hsa-miR-5698	HITS-CLIP	23313552
MIRT696096	hsa-miR-6870-5p	HITS-CLIP	23313552
MIRT696095	hsa-miR-7111-5p	HITS-CLIP	23313552
MIRT696094	hsa-miR-4701-5p	HITS-CLIP	23313552
MIRT696093	hsa-miR-588	HITS-CLIP	23313552
MIRT711595	hsa-miR-5003-3p	HITS-CLIP	19536157
MIRT711594	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT711593	hsa-miR-2276-5p	HITS-CLIP	19536157
MIRT711592	hsa-miR-3183	HITS-CLIP	19536157
MIRT711591	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT711590	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT711589	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT711588	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT711587	hsa-miR-676-5p	HITS-CLIP	19536157
MIRT711586	hsa-miR-642a-5p	HITS-CLIP	19536157
MIRT711585	hsa-miR-4755-5p	HITS-CLIP	19536157
MIRT711583	hsa-miR-5006-3p	HITS-CLIP	19536157
MIRT711584	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT696118	hsa-miR-548av-3p	HITS-CLIP	23313552
MIRT696117	hsa-miR-548g-3p	HITS-CLIP	23313552
MIRT696116	hsa-miR-942-3p	HITS-CLIP	23313552
MIRT696115	hsa-miR-5195-5p	HITS-CLIP	23313552
MIRT696114	hsa-miR-4716-3p	HITS-CLIP	23313552
MIRT696113	hsa-miR-6794-5p	HITS-CLIP	23313552
MIRT696112	hsa-miR-6890-3p	HITS-CLIP	23313552
MIRT696111	hsa-miR-6798-5p	HITS-CLIP	23313552
MIRT696110	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT696109	hsa-miR-1915-3p	HITS-CLIP	23313552
MIRT696108	hsa-miR-6764-5p	HITS-CLIP	23313552
MIRT696107	hsa-miR-1913	HITS-CLIP	23313552
MIRT696106	hsa-miR-324-3p	HITS-CLIP	23313552
MIRT696105	hsa-miR-6846-3p	HITS-CLIP	23313552
MIRT696104	hsa-miR-4252	HITS-CLIP	23313552
MIRT696103	hsa-miR-5699-5p	HITS-CLIP	23313552
MIRT696102	hsa-miR-4758-3p	HITS-CLIP	23313552
MIRT696101	hsa-miR-3189-5p	HITS-CLIP	23313552
MIRT696100	hsa-miR-6878-5p	HITS-CLIP	23313552
MIRT696099	hsa-miR-3175	HITS-CLIP	23313552
MIRT696098	hsa-miR-4723-5p	HITS-CLIP	23313552
MIRT696097	hsa-miR-5698	HITS-CLIP	23313552
MIRT696096	hsa-miR-6870-5p	HITS-CLIP	23313552
MIRT696095	hsa-miR-7111-5p	HITS-CLIP	23313552
MIRT696094	hsa-miR-4701-5p	HITS-CLIP	23313552
MIRT696093	hsa-miR-588	HITS-CLIP	23313552
MIRT1339799	hsa-miR-1207-5p	CLIP-seq
MIRT1339800	hsa-miR-1225-3p	CLIP-seq
MIRT1339801	hsa-miR-1233	CLIP-seq
MIRT1339802	hsa-miR-1283	CLIP-seq
MIRT1339803	hsa-miR-1291	CLIP-seq
MIRT1339804	hsa-miR-1293	CLIP-seq
MIRT1339805	hsa-miR-1909	CLIP-seq
MIRT1339806	hsa-miR-221	CLIP-seq
MIRT1339807	hsa-miR-222	CLIP-seq
MIRT1339808	hsa-miR-296-5p	CLIP-seq
MIRT1339809	hsa-miR-299-3p	CLIP-seq
MIRT1339810	hsa-miR-3064-5p	CLIP-seq
MIRT1339811	hsa-miR-3121-3p	CLIP-seq
MIRT1339812	hsa-miR-3143	CLIP-seq
MIRT1339813	hsa-miR-3173-5p	CLIP-seq
MIRT1339814	hsa-miR-3692	CLIP-seq
MIRT1339815	hsa-miR-370	CLIP-seq
MIRT1339816	hsa-miR-378g	CLIP-seq
MIRT1339817	hsa-miR-4258	CLIP-seq
MIRT1339818	hsa-miR-4260	CLIP-seq
MIRT1339819	hsa-miR-4261	CLIP-seq
MIRT1339820	hsa-miR-4265	CLIP-seq
MIRT1339821	hsa-miR-4296	CLIP-seq
MIRT1339822	hsa-miR-4301	CLIP-seq
MIRT1339823	hsa-miR-4322	CLIP-seq
MIRT1339824	hsa-miR-4417	CLIP-seq
MIRT1339825	hsa-miR-4455	CLIP-seq
MIRT1339826	hsa-miR-4475	CLIP-seq
MIRT1339827	hsa-miR-4483	CLIP-seq
MIRT1339828	hsa-miR-4496	CLIP-seq
MIRT1339829	hsa-miR-455-3p	CLIP-seq
MIRT1339830	hsa-miR-4651	CLIP-seq
MIRT1339831	hsa-miR-4663	CLIP-seq
MIRT1339832	hsa-miR-4690-3p	CLIP-seq
MIRT1339833	hsa-miR-4726-3p	CLIP-seq
MIRT1339834	hsa-miR-4763-3p	CLIP-seq
MIRT1339835	hsa-miR-4803	CLIP-seq
MIRT1339836	hsa-miR-541	CLIP-seq
MIRT1339837	hsa-miR-545	CLIP-seq
MIRT1339838	hsa-miR-548p	CLIP-seq
MIRT1339839	hsa-miR-548v	CLIP-seq
MIRT1339840	hsa-miR-604	CLIP-seq
MIRT1339841	hsa-miR-608	CLIP-seq
MIRT1339842	hsa-miR-625	CLIP-seq
MIRT1339843	hsa-miR-647	CLIP-seq
MIRT1339844	hsa-miR-654-5p	CLIP-seq
MIRT1339845	hsa-miR-711	CLIP-seq
MIRT1339799	hsa-miR-1207-5p	CLIP-seq
MIRT2100459	hsa-miR-142-5p	CLIP-seq
MIRT2100460	hsa-miR-1827	CLIP-seq
MIRT1339805	hsa-miR-1909	CLIP-seq
MIRT2100461	hsa-miR-22	CLIP-seq
MIRT1339808	hsa-miR-296-5p	CLIP-seq
MIRT2100462	hsa-miR-298	CLIP-seq
MIRT1339812	hsa-miR-3143	CLIP-seq
MIRT2100463	hsa-miR-3163	CLIP-seq
MIRT2100464	hsa-miR-340	CLIP-seq
MIRT2100465	hsa-miR-34b	CLIP-seq
MIRT1339814	hsa-miR-3692	CLIP-seq
MIRT1339816	hsa-miR-378g	CLIP-seq
MIRT1339818	hsa-miR-4260	CLIP-seq
MIRT1339819	hsa-miR-4261	CLIP-seq
MIRT2100466	hsa-miR-4438	CLIP-seq
MIRT1339828	hsa-miR-4496	CLIP-seq
MIRT1339829	hsa-miR-455-3p	CLIP-seq
MIRT1339832	hsa-miR-4690-3p	CLIP-seq
MIRT1339833	hsa-miR-4726-3p	CLIP-seq
MIRT1339834	hsa-miR-4763-3p	CLIP-seq
MIRT2100467	hsa-miR-4768-3p	CLIP-seq
MIRT1339835	hsa-miR-4803	CLIP-seq
MIRT2100468	hsa-miR-5095	CLIP-seq
MIRT1339836	hsa-miR-541	CLIP-seq
MIRT2100469	hsa-miR-542-3p	CLIP-seq
MIRT1339837	hsa-miR-545	CLIP-seq
MIRT2100470	hsa-miR-548c-3p	CLIP-seq
MIRT1339838	hsa-miR-548p	CLIP-seq
MIRT2100471	hsa-miR-561	CLIP-seq
MIRT1339844	hsa-miR-654-5p	CLIP-seq
MIRT2100472	hsa-miR-720	CLIP-seq
MIRT1339799	hsa-miR-1207-5p	CLIP-seq
MIRT1339808	hsa-miR-296-5p	CLIP-seq
MIRT2100463	hsa-miR-3163	CLIP-seq
MIRT2100464	hsa-miR-340	CLIP-seq
MIRT2100465	hsa-miR-34b	CLIP-seq
MIRT1339816	hsa-miR-378g	CLIP-seq
MIRT1339818	hsa-miR-4260	CLIP-seq
MIRT1339834	hsa-miR-4763-3p	CLIP-seq
MIRT2100470	hsa-miR-548c-3p	CLIP-seq
MIRT2100472	hsa-miR-720	CLIP-seq
MIRT2620871	hsa-miR-1182	CLIP-seq
MIRT1339799	hsa-miR-1207-5p	CLIP-seq
MIRT2620872	hsa-miR-1245b-3p	CLIP-seq
MIRT2620873	hsa-miR-1266	CLIP-seq
MIRT2100460	hsa-miR-1827	CLIP-seq
MIRT2620874	hsa-miR-3128	CLIP-seq
MIRT2620875	hsa-miR-3190	CLIP-seq
MIRT2620876	hsa-miR-3202	CLIP-seq
MIRT2620877	hsa-miR-4518	CLIP-seq
MIRT2620878	hsa-miR-4533	CLIP-seq
MIRT2620879	hsa-miR-4720-5p	CLIP-seq
MIRT2620880	hsa-miR-4725-5p	CLIP-seq
MIRT2620881	hsa-miR-4733-3p	CLIP-seq
MIRT2620882	hsa-miR-4736	CLIP-seq
MIRT1339834	hsa-miR-4763-3p	CLIP-seq
MIRT2620883	hsa-miR-4799-3p	CLIP-seq
MIRT2620884	hsa-miR-504	CLIP-seq
MIRT2620885	hsa-miR-873	CLIP-seq
MIRT2620886	hsa-miR-940	CLIP-seq
MIRT2620871	hsa-miR-1182	CLIP-seq
MIRT1339799	hsa-miR-1207-5p	CLIP-seq
MIRT2620873	hsa-miR-1266	CLIP-seq
MIRT2620875	hsa-miR-3190	CLIP-seq
MIRT2620876	hsa-miR-3202	CLIP-seq
MIRT2620877	hsa-miR-4518	CLIP-seq
MIRT2620878	hsa-miR-4533	CLIP-seq
MIRT2620880	hsa-miR-4725-5p	CLIP-seq
MIRT2620881	hsa-miR-4733-3p	CLIP-seq
MIRT1339834	hsa-miR-4763-3p	CLIP-seq
MIRT2620884	hsa-miR-504	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	27141965
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12670868, 17998332, 18765639, 20622854, 22266653, 22665483, 22723415, 22843687, 23870121, 26886794
GO:0005634	Component	Nucleus	IDA	17500065
GO:0005634	Component	Nucleus	IMP	22723415
GO:0005654	Component	Nucleoplasm	TAS
GO:0007420	Process	Brain development	IMP	31197650
GO:0008013	Function	Beta-catenin binding	IDA	22723415
GO:0008134	Function	Transcription factor binding	IPI	27141965
GO:0016607	Component	Nuclear speck	IDA
GO:0035097	Component	Histone methyltransferase complex	IDA	17355966, 17500065
GO:0042800	Function	Histone methyltransferase activity (H3-K4 specific)	IDA	20862685
GO:0044648	Process	Histone H3-K4 dimethylation	IDA	25561738
GO:0045652	Process	Regulation of megakaryocyte differentiation	TAS
GO:0048188	Component	Set1C/COMPASS complex	IDA	17998332, 18838538
GO:0048188	Component	Set1C/COMPASS complex	TAS	27141965
GO:0080182	Process	Histone H3-K4 trimethylation	IDA	25561738
GO:0097692	Process	Histone H3-K4 monomethylation	IDA	25561738
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	IDA	27141965
GO:1902275	Process	Regulation of chromatin organization	IDA	27141965

Other IDs

• MIM: 611052
• HGNC: 29010
• e!Ensembl: ENSG00000099381

Protein

• UniProt ID: O15047
• Protein name: Histone-lysine N-methyltransferase SETD1A (EC 2.1.1.364) (Lysine N-methyltransferase 2F) (SET domain-containing protein 1A) (hSET1A) (Set1/Ash2 histone methyltransferase complex subunit SET1)
• Protein function: Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism (PubMed:12670868, PubMed:25561738). Part of chromatin remodelin
• PDB: 3S8S, 3UVN, 4EWR, 8ILY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00076	RRM_1	99 → 166	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF11764	N-SET	1425 → 1562	COMPASS (Complex proteins associated with Set1p) component N	Domain
  PF00856	SET	1579 → 1685	SET domain	Family

• Sequence:

  MDQEGGGDGQKAPSFQWRNYKLIVDPALDPALRRPSQKVYRYDGVHFSVNDSKYIPVEDL
  QDPRCHVRSKNRDFSLPVPKFKLDEFYIGQIPLKEVTFARLNDNVRETFLKDMCRKYGEV
  EEVEILLHPRTRKHLGLARVLFTSTRGAKETVKNLHLTSVMGNIIHAQLDIKGQQRMKYY
  ELIVNGSYTPQTVPTGGKALSEKFQGSGAATETAESRRRSSSDTAAYPAGTTAVGTPGNG
  TPCSQDTSFSSSRQDTPSSFGQFTPQSSQGTPYTSRGSTPYSQDSAYSSSTTSTSFKPRR
  SENSYQDAFSRRHFSASSASTTASTAIAATTAATASSSASSSSLSSSSSSSSSSSSSQFR
  SSDANYPAYYESWNRYQRHTSYPPRRATREEPPGAPFAENTAERFPPSYTSYLPPEPSRP
  TDQDYRPPASEAPPPEPPEPGGGGGGGGPSPEREEVRTSPRPASPARSGSPAPETTNESV
  PFAQHSSLDSRIEMLLKEQRSKFSFLASDTEEEEENSSMVLGARDTGSEVPSGSGHGPCT
  PPPAPANFEDVAPTGSGEPGATRESPKANGQNQASPCSSGDDMEISDDDRGGSPPPAPTP
  PQQPPPPPPPPPPPPPYLASLPLGYPPHQPAYLLPPRPDGPPPPEYPPPPPPPPHIYDFV
  NSLELMDRLGAQWGGMPMSFQMQTQMLTRLHQLRQGKGLIAASAGPPGGAFGEAFLPFPP
  PQEAAYGLPYALYAQGQEGRGAYSREAYHLPMPMAAEPLPSSSVSGEEARLPPREEAELA
  EGKTLPTAGTVGRVLAMLVQEMKSIMQRDLNRKMVENVAFGAFDQWWESKEEKAKPFQNA
  AKQQAKEEDKEKTKLKEPGLLSLVDWAKSGGTTGIEAFAFGSGLRGALRLPSFKVKRKEP
  SEISEASEEKRPRPSTPAEEDEDDPEQEKEAGEPGRPGTKPPKRDEERGKTQGKHRKSFA
  LDSEGEEASQESSSEKDEEDDEEDEEDEDREEAVDTTKKETEVSDGEDEESDSSSKCSLY
  ADSDGENDSTSDSESSSSSSSSSSSSSSSSSSSSSSSSESSSEDEEEEERPAALPSASPP
  PREVPVPTPAPVEVPVPERVAGSPVTPLPEQEASPARPAGPTEESPPSAPLRPPEPPAGP
  PAPAPRPDERPSSPIPLLPPPKKRRKTVSFSAIEVVPAPEPPPATPPQAKFPGPASRKAP
  RGVERTIRNLPLDHASLVKSWPEEVSRGGRSRAGGRGRLTEEEEAEPGTEVDLAVLADLA
  LTPARRGLPALPAVEDSEATETSDEAERPRPLLSHILLEHNYALAVKPTPPAPALRPPEP
  VPAPAALFSSPADEVLEAPEVVVAEAEEPKPQQLQQQREEGEEEGEEEGEEEEEESSDSS
  SSSDGEGALRRRSLRSHARRRRPPPPPPPPPPRAYEPRSEFEQMTILYDIWNSGLDSEDM
  SYLRLTYERLLQQTSGADWLNDTHWVHHTITNLTTPKRKRRPQDGPREHQTGSARSEGYY
  PISKKEKDKYLDVCPVSARQLEGVDTQGTNRVLSERRSEQRRLLSAIGTSAIMDSDLLKL
  NQLKFRKKKLRFGRSRIHEWGLFAMEPIAADEMVIEYVGQNIRQMVADMREKRYVQEGIG
  SSYLFRVDHDTIIDATKCGNLARFINHCCTPNCYAKVITIESQKKIVIYSKQPIGVDEEI
  TYDYKFPLEDNKIPCLCGTESCRGSLN

• Sequence length: 1707

Pathways

KEGG:

Lysine degradation
Metabolic pathways

Reactome:

PKMTs methylate histone lysines
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Epilepsy	Epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	31197650
Mental retardation	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	26974950
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	26974950, 24853937

Unknown
Disease term	Disease name	Evidence	References	Source
Crohn disease	Crohn Disease		26974007	ClinVar
Multiple Sclerosis	Multiple Sclerosis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Apraxias	Associate	29463886, 36117209, 40225914
Arthritis Psoriatic	Associate	20862685
Arthritis Rheumatoid	Associate	35479077
Autistic Disorder	Associate	26938441
Breast Neoplasms	Associate	30191958, 30990809, 31253781, 33223203, 35966598
Breast Neoplasms	Stimulate	31897900
Carcinogenesis	Associate	36707804
Carcinoma Hepatocellular	Associate	27656834, 32918976, 37581938
Carcinoma Non Small Cell Lung	Associate	37548102
Carcinoma Pancreatic Ductal	Stimulate	36271761
Coloboma	Associate	36672956
Colorectal Neoplasms	Stimulate	24948597
COVID 19	Associate	34670213
Dementia	Associate	37328865
Developmental Disabilities	Inhibit	27563068
Developmental Disabilities	Associate	40225914
Disease	Associate	26938441
Dysentery Bacillary	Associate	28218003
Escherichia coli Infections	Associate	17093030
Eye Diseases	Associate	36672956
Facial Dysmorphism with Multiple Malformations	Associate	40225914
Glioblastoma	Associate	37974198
Heart Defects Congenital	Associate	37000069
Infections	Associate	17578910
Inflammation	Associate	35479077, 37821650
Intellectual Disability	Associate	40225914
Language Development Disorders	Associate	40225914
Leukemia	Associate	36450243, 37535603
Leukemia Biphenotypic Acute	Associate	27563068
Leukemia Myeloid Acute	Inhibit	27563068
Leukemia Myeloid Acute	Associate	36450243
Lung Neoplasms	Associate	34219384
Lupus Erythematosus Systemic	Associate	27904655
Mental Disorders	Associate	37000069, 40225914
Microphthalmos	Associate	36672956
Neoplasm Metastasis	Associate	30191958
Neoplasms	Inhibit	27563068, 37581938
Neoplasms	Associate	31253781, 31846841, 34219384, 36450243, 37735441, 37821650
Neoplasms	Stimulate	32918976
Obsessive Compulsive Disorder	Associate	31808517
Oncogene Addiction	Stimulate	37581938
Ovarian Neoplasms	Associate	36707804
Parkinson Disease	Associate	28586827, 37328865
Peters anomaly	Associate	36672956
Pneumonia	Associate	37000069
Prostatic Neoplasms	Associate	27268279, 33050986
Schizophrenia	Associate	26938441, 29228394
Sclerocornea	Associate	36672956
Tracheal Stenosis	Associate	37000069
Triple Negative Breast Neoplasms	Associate	30191958