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	8621
Gene name	Cyclin dependent kinase 13
Gene symbol	CDK13
Synonyms (NCBI Gene)	CDC2LCDC2L5CHDFIDDCHEDhCDK13
Chromosome	7
Chromosome location	7p14.1
Summary	The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has n

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SNP ID	Visualize variation	Clinical significance	Consequence
rs878853160	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1057519632	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057519633	G>C	Pathogenic	Missense variant, coding sequence variant
rs1057519634	G>A	Pathogenic	Missense variant, coding sequence variant
rs1064795731	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796451	C>T	Pathogenic	Missense variant, coding sequence variant
rs1175530571	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554326755	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554333853	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554335482	A>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1562722163	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1562767666	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1583893433	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1583972803	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1584035995	G>A	Likely-pathogenic	Coding sequence variant, missense variant

296

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miRTarBase ID	miRNA	Experiments	Reference
MIRT007125	hsa-miR-133b	Luciferase reporter assay	23451058
MIRT007125	hsa-miR-133b	Luciferase reporter assay	23451058
MIRT038713	hsa-miR-29b-2-5p	CLASH	23622248
MIRT720034	hsa-miR-888-5p	HITS-CLIP	19536157
MIRT720033	hsa-miR-372-5p	HITS-CLIP	19536157
MIRT720032	hsa-miR-376a-5p	HITS-CLIP	19536157
MIRT720031	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT720030	hsa-miR-4760-5p	HITS-CLIP	19536157
MIRT720029	hsa-miR-8061	HITS-CLIP	19536157
MIRT720028	hsa-miR-30a-3p	HITS-CLIP	19536157
MIRT720027	hsa-miR-30d-3p	HITS-CLIP	19536157
MIRT720026	hsa-miR-30e-3p	HITS-CLIP	19536157
MIRT640159	hsa-miR-664a-3p	HITS-CLIP	23824327
MIRT640158	hsa-miR-5696	HITS-CLIP	23824327
MIRT640157	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT640156	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT640155	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT640154	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT640153	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT720034	hsa-miR-888-5p	HITS-CLIP	19536157
MIRT720033	hsa-miR-372-5p	HITS-CLIP	19536157
MIRT720032	hsa-miR-376a-5p	HITS-CLIP	19536157
MIRT720031	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT720030	hsa-miR-4760-5p	HITS-CLIP	19536157
MIRT720029	hsa-miR-8061	HITS-CLIP	19536157
MIRT720028	hsa-miR-30a-3p	HITS-CLIP	19536157
MIRT720027	hsa-miR-30d-3p	HITS-CLIP	19536157
MIRT720026	hsa-miR-30e-3p	HITS-CLIP	19536157
MIRT640159	hsa-miR-664a-3p	HITS-CLIP	23824327
MIRT640158	hsa-miR-5696	HITS-CLIP	23824327
MIRT640157	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT640156	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT640155	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT640154	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT640153	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT880302	hsa-miR-1183	CLIP-seq
MIRT880303	hsa-miR-1245	CLIP-seq
MIRT880304	hsa-miR-1264	CLIP-seq
MIRT880305	hsa-miR-1297	CLIP-seq
MIRT880306	hsa-miR-1301	CLIP-seq
MIRT880307	hsa-miR-141	CLIP-seq
MIRT880308	hsa-miR-145	CLIP-seq
MIRT880309	hsa-miR-153	CLIP-seq
MIRT880310	hsa-miR-154	CLIP-seq
MIRT880311	hsa-miR-19a	CLIP-seq
MIRT880312	hsa-miR-19b	CLIP-seq
MIRT880313	hsa-miR-200a	CLIP-seq
MIRT880314	hsa-miR-214	CLIP-seq
MIRT880315	hsa-miR-22	CLIP-seq
MIRT880316	hsa-miR-2276	CLIP-seq
MIRT880317	hsa-miR-26a	CLIP-seq
MIRT880318	hsa-miR-26b	CLIP-seq
MIRT880319	hsa-miR-298	CLIP-seq
MIRT880320	hsa-miR-3124-3p	CLIP-seq
MIRT880321	hsa-miR-3148	CLIP-seq
MIRT880322	hsa-miR-3150a-3p	CLIP-seq
MIRT880323	hsa-miR-3156-5p	CLIP-seq
MIRT880324	hsa-miR-3175	CLIP-seq
MIRT880325	hsa-miR-3180-5p	CLIP-seq
MIRT880326	hsa-miR-3184	CLIP-seq
MIRT880327	hsa-miR-320a	CLIP-seq
MIRT880328	hsa-miR-320b	CLIP-seq
MIRT880329	hsa-miR-320c	CLIP-seq
MIRT880330	hsa-miR-320d	CLIP-seq
MIRT880331	hsa-miR-3591-5p	CLIP-seq
MIRT880332	hsa-miR-3606	CLIP-seq
MIRT880333	hsa-miR-3613-3p	CLIP-seq
MIRT880334	hsa-miR-3619-5p	CLIP-seq
MIRT880335	hsa-miR-3660	CLIP-seq
MIRT880336	hsa-miR-3662	CLIP-seq
MIRT880337	hsa-miR-3663-3p	CLIP-seq
MIRT880338	hsa-miR-3665	CLIP-seq
MIRT880339	hsa-miR-3688-3p	CLIP-seq
MIRT880340	hsa-miR-3689d	CLIP-seq
MIRT880341	hsa-miR-3915	CLIP-seq
MIRT880342	hsa-miR-3928	CLIP-seq
MIRT880343	hsa-miR-3973	CLIP-seq
MIRT880344	hsa-miR-423-5p	CLIP-seq
MIRT880345	hsa-miR-4261	CLIP-seq
MIRT880346	hsa-miR-4272	CLIP-seq
MIRT880347	hsa-miR-4291	CLIP-seq
MIRT880348	hsa-miR-432	CLIP-seq
MIRT880349	hsa-miR-4429	CLIP-seq
MIRT880350	hsa-miR-4452	CLIP-seq
MIRT880351	hsa-miR-4465	CLIP-seq
MIRT880352	hsa-miR-4499	CLIP-seq
MIRT880353	hsa-miR-4513	CLIP-seq
MIRT880354	hsa-miR-4526	CLIP-seq
MIRT880355	hsa-miR-455-5p	CLIP-seq
MIRT880356	hsa-miR-4645-3p	CLIP-seq
MIRT880357	hsa-miR-4660	CLIP-seq
MIRT880358	hsa-miR-4675	CLIP-seq
MIRT880359	hsa-miR-4687-3p	CLIP-seq
MIRT880360	hsa-miR-4719	CLIP-seq
MIRT880361	hsa-miR-4728-5p	CLIP-seq
MIRT880362	hsa-miR-4741	CLIP-seq
MIRT880363	hsa-miR-4766-5p	CLIP-seq
MIRT880364	hsa-miR-4772-3p	CLIP-seq
MIRT880365	hsa-miR-4795-3p	CLIP-seq
MIRT880366	hsa-miR-491-5p	CLIP-seq
MIRT880367	hsa-miR-5047	CLIP-seq
MIRT880368	hsa-miR-513b	CLIP-seq
MIRT880369	hsa-miR-518a-5p	CLIP-seq
MIRT880370	hsa-miR-520a-5p	CLIP-seq
MIRT880371	hsa-miR-520d-5p	CLIP-seq
MIRT880372	hsa-miR-524-5p	CLIP-seq
MIRT880373	hsa-miR-525-5p	CLIP-seq
MIRT880374	hsa-miR-527	CLIP-seq
MIRT880375	hsa-miR-544b	CLIP-seq
MIRT880376	hsa-miR-548a-3p	CLIP-seq
MIRT880377	hsa-miR-548c-3p	CLIP-seq
MIRT880378	hsa-miR-548e	CLIP-seq
MIRT880379	hsa-miR-548f	CLIP-seq
MIRT880380	hsa-miR-548k	CLIP-seq
MIRT880381	hsa-miR-548n	CLIP-seq
MIRT880382	hsa-miR-548t	CLIP-seq
MIRT880383	hsa-miR-548u	CLIP-seq
MIRT880384	hsa-miR-550a	CLIP-seq
MIRT880385	hsa-miR-577	CLIP-seq
MIRT880386	hsa-miR-584	CLIP-seq
MIRT880387	hsa-miR-587	CLIP-seq
MIRT880388	hsa-miR-653	CLIP-seq
MIRT880389	hsa-miR-668	CLIP-seq
MIRT880390	hsa-miR-761	CLIP-seq
MIRT880391	hsa-miR-764	CLIP-seq
MIRT880392	hsa-miR-921	CLIP-seq
MIRT880393	hsa-miR-922	CLIP-seq
MIRT880394	hsa-miR-939	CLIP-seq
MIRT880395	hsa-miR-944	CLIP-seq
MIRT880308	hsa-miR-145	CLIP-seq
MIRT880396	hsa-miR-4428	CLIP-seq
MIRT880397	hsa-miR-4514	CLIP-seq
MIRT880398	hsa-miR-4690-3p	CLIP-seq
MIRT880399	hsa-miR-4692	CLIP-seq
MIRT880387	hsa-miR-587	CLIP-seq
MIRT880389	hsa-miR-668	CLIP-seq
MIRT880303	hsa-miR-1245	CLIP-seq
MIRT1960809	hsa-miR-155	CLIP-seq
MIRT1960810	hsa-miR-3064-3p	CLIP-seq
MIRT1960811	hsa-miR-3074-5p	CLIP-seq
MIRT880327	hsa-miR-320a	CLIP-seq
MIRT880328	hsa-miR-320b	CLIP-seq
MIRT880329	hsa-miR-320c	CLIP-seq
MIRT880330	hsa-miR-320d	CLIP-seq
MIRT880331	hsa-miR-3591-5p	CLIP-seq
MIRT880332	hsa-miR-3606	CLIP-seq
MIRT880346	hsa-miR-4272	CLIP-seq
MIRT880349	hsa-miR-4429	CLIP-seq
MIRT1960812	hsa-miR-4509	CLIP-seq
MIRT1960813	hsa-miR-4715-3p	CLIP-seq
MIRT1960814	hsa-miR-4776-3p	CLIP-seq
MIRT880377	hsa-miR-548c-3p	CLIP-seq
MIRT1960815	hsa-miR-578	CLIP-seq
MIRT1960816	hsa-miR-579	CLIP-seq
MIRT880387	hsa-miR-587	CLIP-seq
MIRT1960817	hsa-miR-664	CLIP-seq
MIRT1960818	hsa-miR-759	CLIP-seq
MIRT880392	hsa-miR-921	CLIP-seq
MIRT880302	hsa-miR-1183	CLIP-seq
MIRT880304	hsa-miR-1264	CLIP-seq
MIRT880305	hsa-miR-1297	CLIP-seq
MIRT2197507	hsa-miR-136	CLIP-seq
MIRT880307	hsa-miR-141	CLIP-seq
MIRT880310	hsa-miR-154	CLIP-seq
MIRT880311	hsa-miR-19a	CLIP-seq
MIRT880312	hsa-miR-19b	CLIP-seq
MIRT880313	hsa-miR-200a	CLIP-seq
MIRT2197508	hsa-miR-200b	CLIP-seq
MIRT2197509	hsa-miR-200c	CLIP-seq
MIRT880315	hsa-miR-22	CLIP-seq
MIRT880317	hsa-miR-26a	CLIP-seq
MIRT880318	hsa-miR-26b	CLIP-seq
MIRT2197510	hsa-miR-3145-5p	CLIP-seq
MIRT2197511	hsa-miR-3163	CLIP-seq
MIRT880327	hsa-miR-320a	CLIP-seq
MIRT880328	hsa-miR-320b	CLIP-seq
MIRT880329	hsa-miR-320c	CLIP-seq
MIRT880330	hsa-miR-320d	CLIP-seq
MIRT880335	hsa-miR-3660	CLIP-seq
MIRT880337	hsa-miR-3663-3p	CLIP-seq
MIRT880338	hsa-miR-3665	CLIP-seq
MIRT2197512	hsa-miR-3942-3p	CLIP-seq
MIRT880343	hsa-miR-3973	CLIP-seq
MIRT880346	hsa-miR-4272	CLIP-seq
MIRT2197513	hsa-miR-4282	CLIP-seq
MIRT2197514	hsa-miR-429	CLIP-seq
MIRT880348	hsa-miR-432	CLIP-seq
MIRT880349	hsa-miR-4429	CLIP-seq
MIRT2197515	hsa-miR-4432	CLIP-seq
MIRT880351	hsa-miR-4465	CLIP-seq
MIRT880352	hsa-miR-4499	CLIP-seq
MIRT1960812	hsa-miR-4509	CLIP-seq
MIRT880353	hsa-miR-4513	CLIP-seq
MIRT2197516	hsa-miR-452	CLIP-seq
MIRT880354	hsa-miR-4526	CLIP-seq
MIRT2197517	hsa-miR-4639-5p	CLIP-seq
MIRT880356	hsa-miR-4645-3p	CLIP-seq
MIRT2197518	hsa-miR-4676-3p	CLIP-seq
MIRT2197519	hsa-miR-4696	CLIP-seq
MIRT2197520	hsa-miR-4735-5p	CLIP-seq
MIRT2197521	hsa-miR-4744	CLIP-seq
MIRT2197522	hsa-miR-4759	CLIP-seq
MIRT2197523	hsa-miR-4762-3p	CLIP-seq
MIRT880363	hsa-miR-4766-5p	CLIP-seq
MIRT2197524	hsa-miR-4773	CLIP-seq
MIRT880365	hsa-miR-4795-3p	CLIP-seq
MIRT2197525	hsa-miR-499-5p	CLIP-seq
MIRT2197526	hsa-miR-508-5p	CLIP-seq
MIRT2197527	hsa-miR-513a-3p	CLIP-seq
MIRT880368	hsa-miR-513b	CLIP-seq
MIRT880369	hsa-miR-518a-5p	CLIP-seq
MIRT880374	hsa-miR-527	CLIP-seq
MIRT880376	hsa-miR-548a-3p	CLIP-seq
MIRT880378	hsa-miR-548e	CLIP-seq
MIRT880379	hsa-miR-548f	CLIP-seq
MIRT880380	hsa-miR-548k	CLIP-seq
MIRT880383	hsa-miR-548u	CLIP-seq
MIRT2197528	hsa-miR-582-5p	CLIP-seq
MIRT880386	hsa-miR-584	CLIP-seq
MIRT880391	hsa-miR-764	CLIP-seq
MIRT2197529	hsa-miR-885-5p	CLIP-seq
MIRT2500845	hsa-miR-148a	CLIP-seq
MIRT2500846	hsa-miR-148b	CLIP-seq
MIRT2500847	hsa-miR-152	CLIP-seq
MIRT880309	hsa-miR-153	CLIP-seq
MIRT2500848	hsa-miR-219-5p	CLIP-seq
MIRT880316	hsa-miR-2276	CLIP-seq
MIRT880322	hsa-miR-3150a-3p	CLIP-seq
MIRT880323	hsa-miR-3156-5p	CLIP-seq
MIRT2197511	hsa-miR-3163	CLIP-seq
MIRT880324	hsa-miR-3175	CLIP-seq
MIRT880326	hsa-miR-3184	CLIP-seq
MIRT880333	hsa-miR-3613-3p	CLIP-seq
MIRT2500849	hsa-miR-3613-5p	CLIP-seq
MIRT880340	hsa-miR-3689d	CLIP-seq
MIRT2500850	hsa-miR-371b-3p	CLIP-seq
MIRT2500851	hsa-miR-3920	CLIP-seq
MIRT880344	hsa-miR-423-5p	CLIP-seq
MIRT2197513	hsa-miR-4282	CLIP-seq
MIRT2500852	hsa-miR-4436b-5p	CLIP-seq
MIRT2500853	hsa-miR-4445	CLIP-seq
MIRT1960812	hsa-miR-4509	CLIP-seq
MIRT2500854	hsa-miR-4633-5p	CLIP-seq
MIRT880356	hsa-miR-4645-3p	CLIP-seq
MIRT880358	hsa-miR-4675	CLIP-seq
MIRT880359	hsa-miR-4687-3p	CLIP-seq
MIRT2197519	hsa-miR-4696	CLIP-seq
MIRT880360	hsa-miR-4719	CLIP-seq
MIRT880361	hsa-miR-4728-5p	CLIP-seq
MIRT880362	hsa-miR-4741	CLIP-seq
MIRT2500855	hsa-miR-4749-3p	CLIP-seq
MIRT2197523	hsa-miR-4762-3p	CLIP-seq
MIRT880364	hsa-miR-4772-3p	CLIP-seq
MIRT2500856	hsa-miR-4782-3p	CLIP-seq
MIRT880366	hsa-miR-491-5p	CLIP-seq
MIRT2500857	hsa-miR-508-3p	CLIP-seq
MIRT880371	hsa-miR-520d-5p	CLIP-seq
MIRT880372	hsa-miR-524-5p	CLIP-seq
MIRT880376	hsa-miR-548a-3p	CLIP-seq
MIRT880378	hsa-miR-548e	CLIP-seq
MIRT880379	hsa-miR-548f	CLIP-seq
MIRT2500858	hsa-miR-548m	CLIP-seq
MIRT2500859	hsa-miR-938	CLIP-seq
MIRT880394	hsa-miR-939	CLIP-seq
MIRT2500845	hsa-miR-148a	CLIP-seq
MIRT2500846	hsa-miR-148b	CLIP-seq
MIRT2500847	hsa-miR-152	CLIP-seq
MIRT880309	hsa-miR-153	CLIP-seq
MIRT2500848	hsa-miR-219-5p	CLIP-seq
MIRT880316	hsa-miR-2276	CLIP-seq
MIRT880323	hsa-miR-3156-5p	CLIP-seq
MIRT2197511	hsa-miR-3163	CLIP-seq
MIRT880333	hsa-miR-3613-3p	CLIP-seq
MIRT2500849	hsa-miR-3613-5p	CLIP-seq
MIRT2500850	hsa-miR-371b-3p	CLIP-seq
MIRT2500851	hsa-miR-3920	CLIP-seq
MIRT2197513	hsa-miR-4282	CLIP-seq
MIRT2500852	hsa-miR-4436b-5p	CLIP-seq
MIRT2500853	hsa-miR-4445	CLIP-seq
MIRT1960812	hsa-miR-4509	CLIP-seq
MIRT2500854	hsa-miR-4633-5p	CLIP-seq
MIRT880356	hsa-miR-4645-3p	CLIP-seq
MIRT2197519	hsa-miR-4696	CLIP-seq
MIRT880360	hsa-miR-4719	CLIP-seq
MIRT2500855	hsa-miR-4749-3p	CLIP-seq
MIRT2197523	hsa-miR-4762-3p	CLIP-seq
MIRT880364	hsa-miR-4772-3p	CLIP-seq
MIRT2500856	hsa-miR-4782-3p	CLIP-seq
MIRT2500857	hsa-miR-508-3p	CLIP-seq
MIRT880371	hsa-miR-520d-5p	CLIP-seq
MIRT880372	hsa-miR-524-5p	CLIP-seq
MIRT880376	hsa-miR-548a-3p	CLIP-seq
MIRT880378	hsa-miR-548e	CLIP-seq
MIRT880379	hsa-miR-548f	CLIP-seq
MIRT2500858	hsa-miR-548m	CLIP-seq
MIRT2500859	hsa-miR-938	CLIP-seq

Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	IEA
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	IEA
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	ISS
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	TAS	16721827
GO:0002945	Component	Cyclin K-CDK13 complex	IPI	22012619, 26748711
GO:0003723	Function	RNA binding	HDA	22681889
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	TAS	1731328
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004693	Function	Cyclin-dependent protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	16721827, 25036637, 26748711, 32707033, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006397	Process	MRNA processing	IEA
GO:0008024	Component	Cyclin/CDK positive transcription elongation factor complex	IBA
GO:0008353	Function	RNA polymerase II CTD heptapeptide repeat kinase activity	IBA
GO:0008353	Function	RNA polymerase II CTD heptapeptide repeat kinase activity	IDA	20952539
GO:0008353	Function	RNA polymerase II CTD heptapeptide repeat kinase activity	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0009966	Process	Regulation of signal transduction	IDA	26748711
GO:0016301	Function	Kinase activity	IEA
GO:0016607	Component	Nuclear speck	IDA	16721827
GO:0016607	Component	Nuclear speck	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019908	Component	Nuclear cyclin-dependent protein kinase holoenzyme complex	IEA
GO:0019908	Component	Nuclear cyclin-dependent protein kinase holoenzyme complex	ISS
GO:0030097	Process	Hemopoiesis	IMP	1731328
GO:0030332	Function	Cyclin binding	IBA
GO:0030332	Function	Cyclin binding	IEA
GO:0030332	Function	Cyclin binding	IPI	22012619
GO:0032968	Process	Positive regulation of transcription elongation by RNA polymerase II	IBA
GO:0032968	Process	Positive regulation of transcription elongation by RNA polymerase II	IDA	26748711
GO:0032968	Process	Positive regulation of transcription elongation by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20952539
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS
GO:2000737	Process	Negative regulation of stem cell differentiation	IEA

MIM	HGNC	e!Ensembl
603309	1733	ENSG00000065883

Q14004

Protein name

Cyclin-dependent kinase 13 (EC 2.7.11.22) (EC 2.7.11.23) (CDC2-related protein kinase 5) (Cell division cycle 2-like protein kinase 5) (Cell division protein kinase 13) (hCDK13) (Cholinesterase-related cell division controller)

Protein function

Cyclin-dependent kinase which displays CTD kinase activity and is required for RNA splicing. Has CTD kinase activity by hyperphosphorylating the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit RPB1, thereby a

PDB

5EFQ , 7NXJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	705 → 998	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in fetal brain, liver, muscle and in adult brain. Also expressed in neuroblastoma and glioblastoma tumors.

Sequence

MPSSSDTALGGGGGLSWAEKKLEERRKRRRFLSPQQPPLLLPLLQPQLLQPPPPPPPLLF
LAAPGTAAAAAAAAAASSSCFSPGPPLEVKRLARGKRRAGGRQKRRRGPRAGQEAEKRRV
FSLPQPQQDGGGGASSGGGVTPLVEYEDVSSQSEQGLLLGGASAATAATAAGGTGGSGGS
PASSSGTQRRGEGSERRPRRDRRSSSGRSKERHREHRRRDGQRGGSEASKSRSRHSHSGE
ERAEVAKSGSSSSSGGRRKSASATSSSSSSRKDRDSKAHRSRTKSSKEPPSAYKEPPKAY
REDKTEPKAYRRRRSLSPLGGRDDSPVSHRASQSLRSRKSPSPAGGGSSPYSRRLPRSPS
PYSRRRSPSYSRHSSYERGGDVSPSPYSSSSWRRSRSPYSPVLRRSGKSRSRSPYSSRHS
RSRSRHRLSRSRSRHSSISPSTLTLKSSLAAELNKNKKARAAEAARAAEAAKAAEATKAA
EAAAKAAKASNTSTPTKGNTETSASASQTNHVKDVKKIKIEHAPSPSSGGTLKNDKAKTK
PPLQVTKVENNLIVDKATKKAVIVGKESKSAATKEESVSLKEKTKPLTPSIGAKEKEQHV
ALVTSTLPPLPLPPMLPEDKEADSLRGNISVKAVKKEVEKKLRCLLADLPLPPELPGGDD
LSKSPEEKKTATQLHSKRRPKICGPRYGETKEKDIDWGKRCVDKFDIIGIIGEGTYGQVY
KARDKDTGEMVALKKVRLDNEKEGFPITAIREIKILRQLTHQSIINMKEIVTDKEDALDF
KKDKGAFYLVFEYMDHDLMGLLESGLVHFNENHIKSFMRQLMEGLDYCHKKNFLHRDIKC
SNILLNNRGQIKLADFGLARLYSSEESRPYTNKVITLWYRPPELLLGEERYTPAIDVWSC
GCILGELFTKKPIFQANQELAQLELISRICGSPCPAVWPDVIKLPYFNTMKPKKQYRRKL
REEFVFIPAAALDLFDYMLALDPSKRCTAEQALQCEFLRDVEPSKMPPPDLPLWQDCHEL
WSKKRRRQKQMGMTDDVSTIKAPRKDLSLGLDDSRTNTPQGVLPSSQLKSQGSSNVAPVK
TGPGQHLNHSELAILLNLLQSKTSVNMADFVQVLNIKVNSETQQQLNKINLPAGILATGE
KQTDPSTPQQESSKPLGGIQPSSQTIQPKVETDAAQAAVQSAFAVLLTQLIKAQQSKQKD
VLLEERENGSGHEASLQLRPPPEPSTPVSGQDDLIQHQDMRILELTPEPDRPRILPPDQR
PPEPPEPPPVTEEDLDYRTENQHVPTTSSSLTDPHAGVKAALLQLLAQHQPQDDPKREGG
IDYQAGDTYVSTSDYKDNFGSSSFSSAPYVSNDGLGSSSAPPLERRSFIGNSDIQSLDNY
STASSHSGGPPQPSAFSESFPSSVAGYGDIYLNAGPMLFSGDKDHRFEYSHGPIAVLANS
SDPSTGPESTHPLPAKMHNYNYGGNLQENPSGPSLMHGQTWTSPAQGPGYSQGYRGHIST
STGRGRGRGLPY

Sequence length

1512

Interactions

View interactions

	Reactome
			TP53 Regulates Transcription of DNA Repair Genes Neutrophil degranulation

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)

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Pathogenic	rs1057519632	RCV001527382	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CDK13-related disorder	Likely pathogenic; Pathogenic	rs2483753979, rs1405252481, rs1784692399	RCV004552576 RCV004737878 RCV004548052	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	Likely pathogenic; Pathogenic	rs1785729477, rs1784692399, rs1269138380, rs2150536000, rs2116327857, rs2150515547, rs2150517037, rs2150526766, rs2150517060, rs947982773, rs2483940673, rs878853160, rs1413508649, rs1038941016, rs11548117 View all (19 more)	RCV001420349 RCV001788506 RCV001775178 RCV001706913 RCV001733880 View all (32 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs878853160, rs1554326755, rs1057519633	RCV001526523 RCV001255404 RCV001255381	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marfanoid habitus and intellectual disability	Likely pathogenic; Pathogenic	rs878853160	RCV000850464	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Likely pathogenic	rs2150517037	RCV005232679	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs891023397	RCV002274326	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2483783437	RCV003389147	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic intellectual disability	Pathogenic	rs1554335512	RCV005627375	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYCLIN DEPENDENT KINASE 13-RELATED CONGENITAL HEART DEFECTS, INTELLECTUAL DISABILITY, FACIAL DYSMORPHISM SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolfram-like disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (93)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	30535470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	29021403	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Refractory	Refractory anemia	Pubtator	19692701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	36599938	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asphyxia Neonatorum	Postnatal asphyxia	CLINVAR_DG	28807008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG	28807008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	33879837	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33292020, 33686962, 35938508	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29996118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	29222009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chandler syndrome	Chandler Syndrome	BEFREE	16825429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	30664779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG	28807008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	30904094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG	28807008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG	28807008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28807008, 29393965		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER	Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	GENOMICS_ENGLAND_DG	25529582, 27479907		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER	Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	UNIPROT_DG	27479907, 28807008		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER	Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	CLINVAR_DG	28807008		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER	Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	BEFREE	31440507		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER	Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital hereditary endothelial dystrophy	Congenital Hereditary Endothelial Dystrophy	BEFREE	17679935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal Diseases	BEFREE	17679935		★★★★★ ★☆☆☆☆ Found in Text Mining only
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	BEFREE	17220209		★★★★★ ★☆☆☆☆ Found in Text Mining only
CORNEAL ENDOTHELIAL DYSTROPHY 2	CORNEAL ENDOTHELIAL DYSTROPHY	BEFREE	16825429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	30904094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28807008, 29021403, 31238879, 35034425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	31440507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	19344873, 24999027, 25560765, 26539891, 27479907, 28135719, 28807008, 29021403, 29222009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	37895297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	28807008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	33879837	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	28807008		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	33292020	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	33879837	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	27479907, 28807008, 29021403, 33879837	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	CLINVAR_DG	28807008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy of tonsils	Hypertrophy Of Tonsils	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	CLINVAR_DG	28807008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	29021403, 35034425, 35063350	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	29393965, 30904094		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron deficiency anemia	Iron deficiency anemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	35253392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35253392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22912832, 29996118, 31297882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	CLINVAR_DG	28807008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33292020	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29996118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	37599362	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10497214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	9750192	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	9973934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Recessive 7	Intellectual developmental disorder	Pubtator	28807008, 33879837, 35034425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG	28807008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	CLINVAR_DG	28807008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	19344873, 24999027, 25560765, 26539891, 27479907, 28135719, 28807008, 29021403, 29222009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22912832, 29996118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	9750192	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37202753	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37845385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	CLINVAR_DG	28807008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemia with ringed sideroblasts	Anemia With Ringed Sideroblasts	BEFREE	19692701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	CLINVAR_DG	28807008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sacral defect and anterior sacral meningocele	Sacral defect	Pubtator	28807008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	29358035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	29021403, 33879837, 35063350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	34496885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31668947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31715127, 35938508, 39671264	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome	Wolfram syndrome	Pubtator	33879837	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CDK13 (cyclin dependent kinase 13)