SETBP1 (SET binding protein 1)

Gene

• Entrez ID: 26040
• Gene name: SET binding protein 1
• Gene symbol: SETBP1
• Synonyms (NCBI Gene): MRD29, SEB
• Chromosome: 18
• Chromosome location: 18q12.3
• Summary: This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs3744824	C>T	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs145566816	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs147805077	G>A	Likely-pathogenic	Splice acceptor variant
rs267607038	T>C,G	Pathogenic, conflicting-interpretations-of-pathogenicity, not-provided	Coding sequence variant, genic downstream transcript variant, missense variant
rs267607039	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs267607040	G>A	Pathogenic, not-provided	Coding sequence variant, genic downstream transcript variant, missense variant
rs267607041	A>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs267607042	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs574196735	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs606231269	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs606231270	C>G	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs606231271	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs606231272	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs606231273	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs672601342	G>A,T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, missense variant
rs797045952	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886041469	A>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1057519594	->T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1064796181	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1391600900	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained, genic downstream transcript variant
rs1555705966	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555706333	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555706391	A>-	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555706476	G>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555706499	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555706928	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1568097623	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1568234874	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1568235086	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1599367044	G>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1599367236	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1599367726	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1599368029	GATGTTCCAGCCG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1599368323	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1599368734	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT714742	hsa-miR-4282	HITS-CLIP	19536157
MIRT714741	hsa-miR-5571-5p	HITS-CLIP	19536157
MIRT714740	hsa-miR-6733-3p	HITS-CLIP	19536157
MIRT714739	hsa-miR-4302	HITS-CLIP	19536157
MIRT714738	hsa-miR-4797-3p	HITS-CLIP	19536157
MIRT714737	hsa-miR-4264	HITS-CLIP	19536157
MIRT666450	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT666449	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT666448	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT714736	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT714735	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT653899	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT653900	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT666451	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT653898	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT653897	hsa-miR-4521	HITS-CLIP	23824327
MIRT653896	hsa-miR-520f-5p	HITS-CLIP	23824327
MIRT666450	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT666449	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT666448	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT653899	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT653900	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT653898	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT653897	hsa-miR-4521	HITS-CLIP	23824327
MIRT653896	hsa-miR-520f-5p	HITS-CLIP	23824327
MIRT616771	hsa-miR-4714-3p	HITS-CLIP	23824327
MIRT513311	hsa-miR-32-3p	PAR-CLIP	23446348
MIRT513310	hsa-miR-6873-5p	PAR-CLIP	23446348
MIRT513308	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT513309	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT513306	hsa-miR-3908	PAR-CLIP	23446348
MIRT513307	hsa-miR-4735-5p	PAR-CLIP	23446348
MIRT513305	hsa-miR-3126-5p	PAR-CLIP	23446348
MIRT513303	hsa-miR-6875-5p	PAR-CLIP	23446348
MIRT513304	hsa-miR-342-5p	PAR-CLIP	23446348
MIRT513301	hsa-miR-4664-5p	PAR-CLIP	23446348
MIRT513302	hsa-miR-4651	PAR-CLIP	23446348
MIRT513300	hsa-miR-608	PAR-CLIP	23446348
MIRT513299	hsa-miR-6747-5p	PAR-CLIP	23446348
MIRT513298	hsa-miR-541-3p	PAR-CLIP	23446348
MIRT513297	hsa-miR-654-5p	PAR-CLIP	23446348
MIRT513296	hsa-miR-92a-2-5p	PAR-CLIP	23446348
MIRT513295	hsa-miR-6769a-5p	PAR-CLIP	23446348
MIRT513294	hsa-miR-6769b-5p	PAR-CLIP	23446348
MIRT513293	hsa-miR-6742-5p	PAR-CLIP	23446348
MIRT513292	hsa-miR-4766-3p	PAR-CLIP	23446348
MIRT513291	hsa-miR-6737-5p	PAR-CLIP	23446348
MIRT513290	hsa-miR-6812-5p	PAR-CLIP	23446348
MIRT513289	hsa-miR-6819-5p	PAR-CLIP	23446348
MIRT439672	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439671	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT439672	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439671	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT714742	hsa-miR-4282	HITS-CLIP	19536157
MIRT714741	hsa-miR-5571-5p	HITS-CLIP	19536157
MIRT714740	hsa-miR-6733-3p	HITS-CLIP	19536157
MIRT714739	hsa-miR-4302	HITS-CLIP	19536157
MIRT714738	hsa-miR-4797-3p	HITS-CLIP	19536157
MIRT714737	hsa-miR-4264	HITS-CLIP	19536157
MIRT666450	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT666449	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT666448	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT714736	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT714735	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT653899	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT653900	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT666451	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT653898	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT653897	hsa-miR-4521	HITS-CLIP	23824327
MIRT653896	hsa-miR-520f-5p	HITS-CLIP	23824327
MIRT666450	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT666449	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT666448	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT653899	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT653900	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT653898	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT653897	hsa-miR-4521	HITS-CLIP	23824327
MIRT653896	hsa-miR-520f-5p	HITS-CLIP	23824327
MIRT616771	hsa-miR-4714-3p	HITS-CLIP	23824327
MIRT513311	hsa-miR-32-3p	PAR-CLIP	23446348
MIRT513310	hsa-miR-6873-5p	PAR-CLIP	23446348
MIRT513308	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT513309	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT513306	hsa-miR-3908	PAR-CLIP	23446348
MIRT513307	hsa-miR-4735-5p	PAR-CLIP	23446348
MIRT513305	hsa-miR-3126-5p	PAR-CLIP	23446348
MIRT513303	hsa-miR-6875-5p	PAR-CLIP	23446348
MIRT513304	hsa-miR-342-5p	PAR-CLIP	23446348
MIRT513301	hsa-miR-4664-5p	PAR-CLIP	23446348
MIRT513302	hsa-miR-4651	PAR-CLIP	23446348
MIRT513300	hsa-miR-608	PAR-CLIP	23446348
MIRT513299	hsa-miR-6747-5p	PAR-CLIP	23446348
MIRT513298	hsa-miR-541-3p	PAR-CLIP	23446348
MIRT513297	hsa-miR-654-5p	PAR-CLIP	23446348
MIRT513296	hsa-miR-92a-2-5p	PAR-CLIP	23446348
MIRT513295	hsa-miR-6769a-5p	PAR-CLIP	23446348
MIRT513294	hsa-miR-6769b-5p	PAR-CLIP	23446348
MIRT513293	hsa-miR-6742-5p	PAR-CLIP	23446348
MIRT513292	hsa-miR-4766-3p	PAR-CLIP	23446348
MIRT513291	hsa-miR-6737-5p	PAR-CLIP	23446348
MIRT513290	hsa-miR-6812-5p	PAR-CLIP	23446348
MIRT513289	hsa-miR-6819-5p	PAR-CLIP	23446348
MIRT1339757	hsa-miR-1257	CLIP-seq
MIRT1339758	hsa-miR-146b-3p	CLIP-seq
MIRT1339759	hsa-miR-3173-5p	CLIP-seq
MIRT1339760	hsa-miR-4308	CLIP-seq
MIRT1339761	hsa-miR-7	CLIP-seq
MIRT1339762	hsa-miR-874	CLIP-seq
MIRT1339763	hsa-miR-1255a	CLIP-seq
MIRT1339764	hsa-miR-1255b	CLIP-seq
MIRT1339765	hsa-miR-1273f	CLIP-seq
MIRT1339766	hsa-miR-1279	CLIP-seq
MIRT1339767	hsa-miR-1285	CLIP-seq
MIRT1339768	hsa-miR-1343	CLIP-seq
MIRT1339769	hsa-miR-143	CLIP-seq
MIRT1339770	hsa-miR-154	CLIP-seq
MIRT1339771	hsa-miR-197	CLIP-seq
MIRT1339772	hsa-miR-296-3p	CLIP-seq
MIRT1339773	hsa-miR-3074-5p	CLIP-seq
MIRT1339774	hsa-miR-3187-5p	CLIP-seq
MIRT1339775	hsa-miR-3661	CLIP-seq
MIRT1339776	hsa-miR-3684	CLIP-seq
MIRT1339777	hsa-miR-3689a-3p	CLIP-seq
MIRT1339778	hsa-miR-3689c	CLIP-seq
MIRT1339779	hsa-miR-425	CLIP-seq
MIRT1339780	hsa-miR-4424	CLIP-seq
MIRT1339781	hsa-miR-4425	CLIP-seq
MIRT1339782	hsa-miR-4448	CLIP-seq
MIRT1339783	hsa-miR-4480	CLIP-seq
MIRT1339784	hsa-miR-4487	CLIP-seq
MIRT1339785	hsa-miR-4660	CLIP-seq
MIRT1339786	hsa-miR-4708-5p	CLIP-seq
MIRT1339787	hsa-miR-4715-5p	CLIP-seq
MIRT1339788	hsa-miR-4722-3p	CLIP-seq
MIRT1339789	hsa-miR-4770	CLIP-seq
MIRT1339790	hsa-miR-4772-5p	CLIP-seq
MIRT1339791	hsa-miR-487a	CLIP-seq
MIRT1339792	hsa-miR-539	CLIP-seq
MIRT1339793	hsa-miR-569	CLIP-seq
MIRT1339794	hsa-miR-612	CLIP-seq
MIRT1339795	hsa-miR-631	CLIP-seq
MIRT1339796	hsa-miR-885-3p	CLIP-seq
MIRT1339797	hsa-miR-890	CLIP-seq
MIRT1339798	hsa-miR-944	CLIP-seq
MIRT2100453	hsa-miR-3159	CLIP-seq
MIRT2100454	hsa-miR-3160-5p	CLIP-seq
MIRT2100455	hsa-miR-3190	CLIP-seq
MIRT2100456	hsa-miR-4477a	CLIP-seq
MIRT2100457	hsa-miR-596	CLIP-seq
MIRT2100458	hsa-miR-607	CLIP-seq
MIRT2325181	hsa-miR-1202	CLIP-seq
MIRT2325182	hsa-miR-1252	CLIP-seq
MIRT2325183	hsa-miR-1284	CLIP-seq
MIRT2325184	hsa-miR-302a	CLIP-seq
MIRT2325185	hsa-miR-302b	CLIP-seq
MIRT2325186	hsa-miR-302c	CLIP-seq
MIRT2325187	hsa-miR-302d	CLIP-seq
MIRT2325188	hsa-miR-302e	CLIP-seq
MIRT2325189	hsa-miR-3120-3p	CLIP-seq
MIRT2325190	hsa-miR-3194-5p	CLIP-seq
MIRT2325191	hsa-miR-324-5p	CLIP-seq
MIRT2325192	hsa-miR-3714	CLIP-seq
MIRT2325193	hsa-miR-372	CLIP-seq
MIRT2325194	hsa-miR-373	CLIP-seq
MIRT2325195	hsa-miR-3972	CLIP-seq
MIRT2325196	hsa-miR-4267	CLIP-seq
MIRT2325197	hsa-miR-4432	CLIP-seq
MIRT2325198	hsa-miR-4433	CLIP-seq
MIRT2325199	hsa-miR-4533	CLIP-seq
MIRT2325200	hsa-miR-4761-5p	CLIP-seq
MIRT2325201	hsa-miR-519a	CLIP-seq
MIRT2325202	hsa-miR-519b-3p	CLIP-seq
MIRT2325203	hsa-miR-519c-3p	CLIP-seq
MIRT2325204	hsa-miR-520a-3p	CLIP-seq
MIRT2325205	hsa-miR-520b	CLIP-seq
MIRT2325206	hsa-miR-520c-3p	CLIP-seq
MIRT2325207	hsa-miR-520d-3p	CLIP-seq
MIRT2325208	hsa-miR-520e	CLIP-seq
MIRT2325209	hsa-miR-548aa	CLIP-seq
MIRT2325210	hsa-miR-633	CLIP-seq
MIRT1339761	hsa-miR-7	CLIP-seq
MIRT2459150	hsa-miR-19a	CLIP-seq
MIRT2459151	hsa-miR-19b	CLIP-seq
MIRT2459152	hsa-miR-297	CLIP-seq
MIRT2459153	hsa-miR-3166	CLIP-seq
MIRT2459154	hsa-miR-455-5p	CLIP-seq
MIRT2459155	hsa-miR-4771	CLIP-seq
MIRT2459156	hsa-miR-548c-3p	CLIP-seq
MIRT2459157	hsa-miR-567	CLIP-seq
MIRT2325182	hsa-miR-1252	CLIP-seq
MIRT1339768	hsa-miR-1343	CLIP-seq
MIRT2620844	hsa-miR-136	CLIP-seq
MIRT2620845	hsa-miR-142-3p	CLIP-seq
MIRT2620846	hsa-miR-1827	CLIP-seq
MIRT2620847	hsa-miR-3183	CLIP-seq
MIRT2100455	hsa-miR-3190	CLIP-seq
MIRT2620848	hsa-miR-3591-3p	CLIP-seq
MIRT2620849	hsa-miR-3653	CLIP-seq
MIRT2620850	hsa-miR-3658	CLIP-seq
MIRT2620851	hsa-miR-3687	CLIP-seq
MIRT2620852	hsa-miR-3978	CLIP-seq
MIRT2620853	hsa-miR-4255	CLIP-seq
MIRT2325197	hsa-miR-4432	CLIP-seq
MIRT2620854	hsa-miR-4442	CLIP-seq
MIRT2620855	hsa-miR-4484	CLIP-seq
MIRT2325199	hsa-miR-4533	CLIP-seq
MIRT2620856	hsa-miR-4680-5p	CLIP-seq
MIRT2620857	hsa-miR-4715-3p	CLIP-seq
MIRT2620858	hsa-miR-4723-3p	CLIP-seq
MIRT2620859	hsa-miR-4727-5p	CLIP-seq
MIRT2620860	hsa-miR-4747-5p	CLIP-seq
MIRT2620861	hsa-miR-4751	CLIP-seq
MIRT2620862	hsa-miR-4752	CLIP-seq
MIRT2620863	hsa-miR-4757-5p	CLIP-seq
MIRT2620864	hsa-miR-4769-3p	CLIP-seq
MIRT2620865	hsa-miR-4796-5p	CLIP-seq
MIRT2620866	hsa-miR-515-5p	CLIP-seq
MIRT2620867	hsa-miR-548an	CLIP-seq
MIRT2620868	hsa-miR-554	CLIP-seq
MIRT2620869	hsa-miR-580	CLIP-seq
MIRT2620870	hsa-miR-643	CLIP-seq
MIRT1339761	hsa-miR-7	CLIP-seq
MIRT2325181	hsa-miR-1202	CLIP-seq
MIRT2325182	hsa-miR-1252	CLIP-seq
MIRT2690494	hsa-miR-129-3p	CLIP-seq
MIRT1339768	hsa-miR-1343	CLIP-seq
MIRT2620844	hsa-miR-136	CLIP-seq
MIRT2620845	hsa-miR-142-3p	CLIP-seq
MIRT2620846	hsa-miR-1827	CLIP-seq
MIRT1339773	hsa-miR-3074-5p	CLIP-seq
MIRT2690495	hsa-miR-3143	CLIP-seq
MIRT2690496	hsa-miR-3182	CLIP-seq
MIRT2620847	hsa-miR-3183	CLIP-seq
MIRT2100455	hsa-miR-3190	CLIP-seq
MIRT2325190	hsa-miR-3194-5p	CLIP-seq
MIRT2620848	hsa-miR-3591-3p	CLIP-seq
MIRT2690497	hsa-miR-3611	CLIP-seq
MIRT2620849	hsa-miR-3653	CLIP-seq
MIRT2620850	hsa-miR-3658	CLIP-seq
MIRT2620851	hsa-miR-3687	CLIP-seq
MIRT2325195	hsa-miR-3972	CLIP-seq
MIRT2620852	hsa-miR-3978	CLIP-seq
MIRT2620853	hsa-miR-4255	CLIP-seq
MIRT2690498	hsa-miR-4268	CLIP-seq
MIRT2690499	hsa-miR-4297	CLIP-seq
MIRT2325197	hsa-miR-4432	CLIP-seq
MIRT2620854	hsa-miR-4442	CLIP-seq
MIRT1339782	hsa-miR-4448	CLIP-seq
MIRT1339783	hsa-miR-4480	CLIP-seq
MIRT2620855	hsa-miR-4484	CLIP-seq
MIRT2690500	hsa-miR-4488	CLIP-seq
MIRT2325199	hsa-miR-4533	CLIP-seq
MIRT2620856	hsa-miR-4680-5p	CLIP-seq
MIRT2690501	hsa-miR-4697-5p	CLIP-seq
MIRT2620857	hsa-miR-4715-3p	CLIP-seq
MIRT1339788	hsa-miR-4722-3p	CLIP-seq
MIRT2620858	hsa-miR-4723-3p	CLIP-seq
MIRT2620859	hsa-miR-4727-5p	CLIP-seq
MIRT2620860	hsa-miR-4747-5p	CLIP-seq
MIRT2620861	hsa-miR-4751	CLIP-seq
MIRT2620862	hsa-miR-4752	CLIP-seq
MIRT2620863	hsa-miR-4757-5p	CLIP-seq
MIRT2620864	hsa-miR-4769-3p	CLIP-seq
MIRT2620866	hsa-miR-515-5p	CLIP-seq
MIRT2690502	hsa-miR-542-3p	CLIP-seq
MIRT2690503	hsa-miR-543	CLIP-seq
MIRT2620867	hsa-miR-548an	CLIP-seq
MIRT2620868	hsa-miR-554	CLIP-seq
MIRT2690504	hsa-miR-572	CLIP-seq
MIRT2690505	hsa-miR-576-5p	CLIP-seq
MIRT2620869	hsa-miR-580	CLIP-seq
MIRT2690506	hsa-miR-637	CLIP-seq
MIRT2620870	hsa-miR-643	CLIP-seq
MIRT1339761	hsa-miR-7	CLIP-seq
MIRT2690507	hsa-miR-938	CLIP-seq
MIRT2690508	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IDA	11231286
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0016604	Component	Nuclear body	IDA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IBA

Other IDs

• MIM: 611060
• HGNC: 15573
• e!Ensembl: ENSG00000152217

Protein

• UniProt ID: Q9Y6X0
• Protein name: SET-binding protein (SEB)
• Tissue specificity: TISSUE SPECIFICITY: Expressed in numerous tissues. Expressed at low levels in myeloid and monocytic cells as well as in CD34+ cells; expression levels are higher in myeloid malignancies. {ECO:0000269|PubMed:11231286, ECO:0000269|PubMed:23832012}.
• Sequence:

  MESRETLSSSRQRGGESDFLPVSSAKPPAAPGCAGEPLLSTPGPGKGIPVGGERMEPEEE
  DELGSGRDVDSNSNADSEKWVAGDGLEEQEFSIKEANFTEGSLKLKIQTTKRAKKPPKNL
  ENYICPPEIKITIKQSGDQKVSRAGKNSKATKEEERSHSKKKLLTASDLAASDLKGFQPQ
  AYERPQKHSTLHYDTGLPQDFTGDTLKPKHQQKSSSQNHMDWSTNSDSGPVTQNCFISPE
  SGRETASTSKIPALEPVASFAKAQGKKGSAGNTWSQLSNNNKDLLLGGVAPSPSSHSSPA
  PPSSSAECNGLQPLVDQDGGGTKEPPEPPTVGSKKKSSKKDVISQTIPNPDLDWVKNAQK
  AFDNTEGKREGYSADSAQEASPARQNVSSASNPENDSSHVRITIPIKAPSLDPTNHKRKK
  RQSIKAVVEKIMPEKALASGITMSSEVVNRILSNSEGNKKDPRVPKLSKMIENESPSVGL
  ETGGNAEKVIPGGVSKPRKPPMVMTPPTCTDHSPSRKLPEIQHPKFAAKRRWTCSKPKPS
  TMLREAVMATSDKLMLEPPSAYPITPSSPLYTNTDSLTVITPVKKKRGRPKKQPLLTVET
  IHEGTSTSPVSPISREFPGTKKRKRRRNLAKLAQLVPGEDKPMSEMKFHKKVGKLGVLDK
  KTIKTINKMKTLKRKNILNQILSCSSSVALKAKAPPETSPGAAAIESKLGKQINVSKRGT
  IYIGKKRGRKPRAELPPPSEEPKTAIKHPRPVSSQPDVPAVPSNFQSLVASSPAAMHPLS
  TQLGGSNGNLSPASTETNFSELKTMPNLQPISALPTKTQKGIHSGTWKLSPPRLMANSPS
  HLCEIGSLKEITLSPVSESHSEETIPSDSGIGTDNNSTSDQAEKSSESRRRYSFDFCSLD
  NPEAIPSDTSTKNRHGHRQKHLIVDNFLAHESLKKPKHKRKRKSLQNRDDLQFLADLEEL
  ITKFQVFRISHRSYTFYHENPYPSIFRINFDHYYPVPYIQYDPLLYLRRTSDLKSKKKRG
  RPAKTNDTMTKVPFLQGFSYPIPSGSYYAPYGMPYTSMPMMNLGYYGQYPAPLYLSHTLG
  AASPFMRPTVPPPQFHTNSHVKMSGAAKHKAKHGVHLQGPVSMGLGDMQPSLNPPKVGSA
  SLSSGRLHKRKHKHKHKHKEDRILGTHDNLSGLFAGKATGFSSHILSERLSSADKELPLV
  SEKNKHKEKQKHQHSEAGHKASKNNFEVDTLSTLSLSDAQHWTQAKEKGDLSSEPVDSCT
  KRYSGSGGDGGSTRSENLDVFSEMNPSNDKWDSDVSGSKRRSYEGFGTYREKDIQAFKMN
  RKERSSYDSSMSPGMPSPHLKVDQTAVHSKNEGSVPTMMTRKKPAAVDSVTIPPAPVLSL
  LAASAATSDAVGSSLKKRFKRREIEAIQCEVRKMCNYTKILSTKKNLDHVNKILKAKRLQ
  RQSKTGNNFVKKRRGRPRKQPTQFDEDSRDQMPVLEKCIDLPSKRGQKPSLSPLVLEPAA
  SQDTIMATIEAVIHMAREAPPLPPPPPPPLPPPPPPPLPPPPPLPKTPRGGKRKHKPQAP
  AQPPQQSPPQQPLPQEEEVKAKRQRKSRGSESEVLP

• Sequence length: 1596

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the nervous system	Pathogenic	rs1599368734	RCV001836885	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis multiplex congenita	Likely pathogenic; Pathogenic	rs267607038	RCV000855501	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Pathogenic	rs2071332541	RCV003127394	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia deformation sequence 1	Likely pathogenic; Pathogenic	rs267607038	RCV000855501	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs606231273, rs1568235086, rs2071295138, rs2071357855, rs2071360713	RCV005621885 RCV005231311 RCV001257735 RCV001257737 RCV001257736	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability, autosomal dominant 29	Likely pathogenic; Pathogenic	rs2145108363, rs2145100544, rs2145092336, rs2145114965, rs2145592791, rs267607038, rs267607042, rs267607040, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs2511464232, rs1568235567, rs797045952, rs2071332541, rs2511477723, rs2145105600, rs2145114867, rs886041469, rs2511473390, rs748393505, rs2511368694, rs2511466330, rs1057519594, rs1555705966, rs1555706391, rs1178702025, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1599368323, rs373264085, rs1231303606, rs2071318911, rs2071314703, rs2071336349, rs2071364489, rs2073929830, rs2511467580	RCV001376162 RCV001788513 RCV001733871 RCV001775412 RCV001808016 RCV001007919 RCV000850599 RCV005859449 RCV000144900 RCV000144901 RCV000144902 RCV000144903 RCV000144904 RCV000144905 RCV002471878 RCV002470274 RCV001265509 RCV003223444 RCV003148584 RCV003326667 RCV003224983 RCV001265340 RCV003326179 RCV003335795 RCV003444527 RCV004595086 RCV000417091 RCV001265337 RCV001265339 RCV001265286 RCV001265338 RCV003313977 RCV001194625 RCV001265285 RCV000995868 RCV001198532 RCV002287481 RCV001252617 RCV001253209 RCV001262219 RCV001265287 RCV001265510 RCV001270421	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lymphoma	Likely pathogenic	rs1599367044	RCV000790859	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2145110485	RCV001375032	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schinzel-Giedion syndrome	Likely pathogenic; Pathogenic	rs2071377438, rs267607038, rs267607042, rs267607041, rs267607039, rs267607040, rs606231272, rs606231273, rs376371660, rs797045952, rs2511469942, rs74499808, rs1178702025, rs1568235086, rs2511467580	RCV001542795 RCV000001086 RCV000001087 RCV000001088 RCV000001089 RCV000001090 RCV000760256 RCV000763028 RCV000147458 RCV002510727 RCV000192674 RCV003314417 RCV003315119 RCV001007402 RCV002470936 RCV001816816 RCV001270421	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SETBP1-related disorder	Likely pathogenic; Pathogenic	rs267607038, rs267607042, rs267607040, rs606231273, rs2071332541, rs886041469, rs74499808, rs1568235567, rs2511472457, rs202066186	RCV004532268 RCV004532269 RCV004532270 RCV004532637 RCV004538897 RCV000509457 RCV004701034 RCV004527941 RCV004531627 RCV004543985	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BUNDLE BRANCH BLOCK	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delayed speech and language development	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized joint hypermobility	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia 8	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDRONEPHROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY, EXPRESSIVE APHASIA, FACIAL DYSMORPHISM SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joint laxity	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LANGUAGE DEVELOPMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, CHRONIC, ATYPICAL, BCR-ABL NEGATIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENILE HYPOSPADIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	BEFREE	30972839		★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	BEFREE	30972839		★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	29549983		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	17233820		★☆☆☆☆ Found in Text Mining only
Alacrima	Alacrima	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	GWASCAT_DG	28196072		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	25811265		★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	35766510	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Refractory	Refractory anemia	Pubtator	26874914	Associate	★☆☆☆☆ Found in Text Mining only
Annular pancreas	Annular pancreas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	29463886, 33907317, 36117209	Associate	★☆☆☆☆ Found in Text Mining only
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	CLINVAR_DG	31680123		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28034578		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	33867525	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Auditory Processing Disorder, Central	Auditory processing disorder	CTD_human_DG	25217958		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	25217958		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	36805818	Associate	★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	25850813	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	26096993		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	38165902	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	25751625		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	25751625, 29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	36140725, 38087296	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35835912	Associate	★☆☆☆☆ Found in Text Mining only
Central hypothyroidism	Central hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	26096993		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral atrophy	Cerebral Atrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	25553291		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	35129130	Associate	★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	LHGDN	16582916		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	23628959		★☆☆☆☆ Found in Text Mining only
Chronic Neutrophilic Leukemia	Neutrophilic Leukemia	BEFREE	23604229, 24335708, 25316523, 25575036, 25850813, 28158286, 28209919, 29587671		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30471512		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29796729		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	29587671		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	GWASCAT_DG	27171184		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	10457116, 10931129, 21093604, 29247497, 31616226		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	27767230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	29631977, 30009840, 33867525, 36805818, 39350244	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysembryoplastic neuroepithelial tumor	Dysembryoplastic Neuroepithelial Tumor	CGI_DG			★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	30009840	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	18398855, 20436468, 21037274, 23020937, 23832012, 24267886, 25028416, 25217958, 25356899, 25663181, 28346496		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	10457116, 10931129, 21093604, 29247497, 31616226		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	30977854	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	37445849	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	28419882		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	28419882		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	36727400	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	21037274, 29631977		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	25553291, 28346496, 29549983, 29796729, 29875417		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	25553291, 28346496, 38165902	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	39350244	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydronephrosis	Hydronephrosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	27174585	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	33867525	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of first ribs	Hypoplasia Of Rib	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the epiglottis	Hypoplasia of the epiglottis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	20436468, 25217958		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	BEFREE	25217958		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	25217958, 33867525, 36805818, 37798664	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability-expressive aphasia-facial dysmorphism syndrome	Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	23832011, 24695057, 25395418, 26980750, 28209919		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	CTD_human_DG	23832011, 26457647		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	UNIPROT_DG	23832011		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language Development Disorders	CTD_human_DG	25217958		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Development Disorders	Language Development Disorders	BEFREE	27016271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Development Disorders	Language development disorders	Pubtator	27016271, 36805818	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19965692, 28346496, 35482940	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28346496, 28913558, 29875417		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	25395418	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19965692, 22873195, 32461631, 33822276, 33914911, 34343258	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	23604229, 23889083, 25850813, 26648538, 26771811, 27385790, 28209919, 30635983	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	25395418, 38385260	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Neutrophilic Chronic	Neutrophilic leukemia	Pubtator	23604229, 25316523, 25850813, 28209919, 31315541, 33822276, 34068566, 35482940	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Monocytic, Chronic	Monocytic Leukemia	CTD_human_DG	23832012		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	19965692, 21233840, 22873195, 23892662, 25306901, 25412851, 28447248, 29549983, 30367089		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	UNIPROT_DG	23648668, 23889083		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	BEFREE	23222956, 23628959, 23832012, 25343957, 25553291, 26017341, 29875417, 30635983, 31692115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	CTD_human_DG	23222956		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	23832012, 23889083, 24695057, 25645147, 25850813, 28158286, 28209919, 30635983		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	20599939		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	BEFREE	26202160		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	26202160	Associate	★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple	Lipomatosis	BEFREE	26202160		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	27110576	Associate	★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	25751625		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23016583		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23016583, 23222956, 23628959, 23832012, 28346496, 28913558, 29875417, 30134812, 30471512		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30471512		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	25751625		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	25751625		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	25751625		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	23958953	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	37535001	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	32949309	Associate	★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	20436468, 25217958		★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Recessive 7	Intellectual developmental disorder	Pubtator	36113068	Associate	★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29	Mental retardation	CLINVAR_DG	20436468, 25217958, 25663181, 25852444, 28346496		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	22333924		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	25306901		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25735936	Associate	★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	30134812		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	GWASCAT_DG	27171184		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CTD_human_DG	20436468		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26389776, 30134812		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	30134812	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	UNIPROT_DG	23648668, 23889083		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	23832012, 23889083, 24127063, 25306901, 28158286, 29549983, 30367089		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CGI_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	23889083, 24127063, 28220884, 28913558, 32573691, 34775472, 35766510, 36054881, 36109871, 36601682, 40725152	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic-Myeloproliferative Diseases	Myelodysplastic-Myeloproliferative Diseases	BEFREE	28447248		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	29587671		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	CTD_human_DG	23832012		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	UNIPROT_DG	23222956		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Myelomonocytic leukemia	Myelomonocytic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23016583, 25306901, 26202160, 26883102, 28447248		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	34193871, 38165902	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular Diseases	Neuromuscular disease	Pubtator	25735936	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	35766510	Associate	★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	26389776		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30397228	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37730669	Associate	★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	17233820		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	22873195, 29587671		★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	20436468, 25217958		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36045292	Associate	★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	33822276	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sacrococcygeal teratoma	Sacrococcygeal teratoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schinzel-Giedion syndrome	Schinzel-Giedion Syndrome	BEFREE	20436468, 21037274, 23832012, 25663181, 26096993, 28346496, 29875417		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schinzel-Giedion syndrome	Schinzel-Giedion Syndrome	UNIPROT_DG	20436468		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schinzel-Giedion syndrome	Schinzel-Giedion Syndrome	CLINVAR_DG	20436468, 25028416, 25663181, 25852444, 28346496		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schinzel-Giedion syndrome	Schinzel-Giedion Syndrome	GENOMICS_ENGLAND_DG	20436468		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schinzel-Giedion syndrome	Schinzel-Giedion Syndrome	ORPHANET_DG	20436468, 21371013		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schinzel-Giedion syndrome	Schinzel-Giedion Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schinzel-Giedion syndrome	Schinzel-Giedion Syndrome	CTD_human_DG	23222956, 23832012		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	28447248		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27715466		★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	28346496		★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	31616226		★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	21037274		★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	CTD_human_DG	25217958		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	22333924		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23016583		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	23016583		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37150818	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	38165902	Associate	★☆☆☆☆ Found in Text Mining only
Streak ovary	Streak ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	25850813	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	Pubtator	35129130	Associate	★☆☆☆☆ Found in Text Mining only
Toxic Shock Syndrome	Toxic Shock Syndrome	BEFREE	18373692, 21225304, 24808237, 29247497, 30890614, 7492354		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	26096993		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28571042		★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34315402, 35090432, 35958598, 37150818	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	33867525	Associate	★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only