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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9739
Gene name	SET domain containing 1A, histone lysine methyltransferase
Gene symbol	SETD1A
Synonyms (NCBI Gene)	EPEDDEPEO2KMT2FNEDSIDSet1Set1A
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

Show/Hide all (6)

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

202

Show/Hide all (202)

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

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	27141965
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IDA	38003223
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12670868, 17998332, 18765639, 20622854, 22266653, 22665483, 22723415, 22843687, 23870121, 26886794, 33961781, 37030068
GO:0005634	Component	Nucleus	IDA	17500065
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	22723415
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	38003223
GO:0005737	Component	Cytoplasm	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007420	Process	Brain development	IMP	31197650
GO:0008013	Function	Beta-catenin binding	IPI	22723415
GO:0008168	Function	Methyltransferase activity	IEA
GO:0016607	Component	Nuclear speck	IDA	38003223
GO:0016607	Component	Nuclear speck	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0035097	Component	Histone methyltransferase complex	IDA	17355966, 17500065
GO:0042800	Function	Histone H3K4 methyltransferase activity	IBA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IDA	20862685
GO:0042800	Function	Histone H3K4 methyltransferase activity	IEA
GO:0048188	Component	Set1C/COMPASS complex	IBA
GO:0048188	Component	Set1C/COMPASS complex	IDA	17998332, 18838538
GO:0048188	Component	Set1C/COMPASS complex	IEA
GO:0048188	Component	Set1C/COMPASS complex	IPI	23508102
GO:0048188	Component	Set1C/COMPASS complex	TAS	27141965
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	27141965
GO:0140938	Function	Histone H3 methyltransferase activity	IEA
GO:0140945	Function	Histone H3K4 monomethyltransferase activity	IEA
GO:0140999	Function	Histone H3K4 trimethyltransferase activity	IEA
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	IDA	27141965
GO:1902275	Process	Regulation of chromatin organization	IDA	27141965

MIM	HGNC	e!Ensembl
611052	29010	ENSG00000099381

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

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways		PKMTs methylate histone lysines RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

159

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic	rs2543876108	RCV003127372
Epilepsy, early-onset, with or without developmental delay	Likely pathogenic; Pathogenic	rs2143509708, rs61744449, rs2543861155, rs2056158149, rs755127868, rs2056165149, rs2056100951, rs781482552, rs2056003750, rs2056118338	RCV002225059 RCV002289157 RCV004783056 RCV004783064 RCV001788230 RCV001034711 RCV001034712 RCV001034713 RCV001250554 RCV001254164
Intellectual disability	Likely pathogenic	rs2056144779	RCV001257739
Neurodevelopmental disorder	Pathogenic	rs2143491920	RCV002273265
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Pathogenic	rs2543874648	RCV003128089
Neurodevelopmental disorder with speech impairment and dysmorphic facies	Likely pathogenic; Pathogenic	rs2056114867, rs2143514019, rs2143509708, rs2543831672, rs2543866311, rs2543909603, rs2543847896, rs2543859166, rs2543833500, rs2543908638, rs2543861155, rs2056158149, rs2543876266, rs2543862825, rs755127868 View all (3 more)	RCV001706797 RCV001814628 RCV002225059 RCV002287616 RCV002294587 RCV002468784 RCV002510552 RCV003140421 RCV003155649 RCV003314301 RCV004783056 RCV003444528 RCV003493275 RCV003985227 RCV001775121 RCV001261422 RCV001261423 RCV001261424
Schizophrenia	Pathogenic	rs2056099559, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831	RCV001801339 RCV000210278 RCV000210255 RCV000210257 RCV000210279 RCV000210263
SETD1A-related disorder	Likely pathogenic	rs1567353500	RCV003420945

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Developmental disorder	Likely benign; Uncertain significance	rs550183612, rs2143483723, rs149618545, rs2056372684	RCV001843766 RCV001843788 RCV001843823 RCV003127373
Gastric cancer	Conflicting classifications of pathogenicity	rs374206451	RCV005908943
Sarcoma	Conflicting classifications of pathogenicity	rs374206451	RCV005908942
See cases	Uncertain significance; Conflicting classifications of pathogenicity	rs1034310028, rs1237118676, rs1567367226, rs766598337	RCV004584466 RCV002252983 RCV003232916 RCV003886331

Show/Hide Text Mining Associations (50)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

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