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CDK13 (cyclin dependent kinase 13)

Gene

8621

Cyclin dependent kinase 13

CDK13

CDC2L, CDC2L5, CHDFIDD, CHED, hCDK13

7p14.1

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

Show/Hide all(15)

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

Show/Hide all(296)

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(36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	IBA	21873635
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
GO:0003723	Function	RNA binding	HDA	22681889
GO:0004672	Function	Protein kinase activity	TAS	1731328
GO:0004693	Function	Cyclin-dependent protein serine/threonine kinase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	16721827, 26748711
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	TAS
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006368	Process	Transcription elongation from RNA polymerase II promoter	IBA	21873635
GO:0006468	Process	Protein phosphorylation	IBA	21873635
GO:0007088	Process	Regulation of mitotic nuclear division	TAS	1731328
GO:0007275	Process	Multicellular organism development	TAS	1731328
GO:0008024	Component	Cyclin/CDK positive transcription elongation factor complex	IBA	21873635
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	1731328
GO:0008353	Function	RNA polymerase II CTD heptapeptide repeat kinase activity	IBA	21873635
GO:0008353	Function	RNA polymerase II CTD heptapeptide repeat kinase activity	IDA	20952539
GO:0016032	Process	Viral process	IEA
GO:0016607	Component	Nuclear speck	IDA	16721827
GO:0019901	Function	Protein kinase binding	IEA
GO:0019908	Component	Nuclear cyclin-dependent protein kinase holoenzyme complex	ISS
GO:0030097	Process	Hemopoiesis	IMP	1731328
GO:0030332	Function	Cyclin binding	IBA	21873635
GO:0030332	Function	Cyclin binding	IPI	22012619
GO:0032968	Process	Positive regulation of transcription elongation from RNA polymerase II promoter	IBA	21873635
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0070816	Process	Phosphorylation of RNA polymerase II C-terminal domain	IBA	21873635
GO:0070816	Process	Phosphorylation of RNA polymerase II C-terminal domain	IDA	20952539
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

Protein

UniProt ID

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

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

Associated diseases

Show/Hide Causal Diseases (13)

Causal
Disease name	Disease term	dbSNP ID	References
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125	28807008
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER	rs878853160, rs1057519632, rs1057519633, rs1064795731, rs1064796451, rs1405252481, rs1554317002, rs1554333853, rs1562722163, rs1584035995, rs1583893433, rs1583972803	27479907, 28807008, 25529582
Dermatitis	Dermatitis, Atopic	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	28807008
Developmental regression	Developmental regression	rs1224421127
Macrocephaly	Relative macrocephaly	rs786204854, rs764333096, rs1557739557	28807008
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	29222009, 26539891, 29021403, 28807008, 27479907, 25560765, 24999027, 28135719, 19344873
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (21)

Unknown
Disease name	Disease term	dbSNP ID	References
Anxiety disorder	Anxiety
Astigmatism	Astigmatism
Camptodactyly of fingers	Clinodactyly of the 5th finger		28807008
Clinodactyly	Clinodactyly of fingers, Clinodactyly
Congenital camptodactyly	Congenital Camptodactyly
Congenital clubfoot	Congenital clubfoot		28807008
Congenital epicanthus	Congenital Epicanthus		28807008
Dolichocephaly	Long narrow head		28807008
Dysmorphic features	Dysmorphic features		29021403, 28135719, 25560765, 26539891, 28807008, 27479907, 29222009, 24999027, 19344873
Hypertrophy of clitoris	Hypertrophy of clitoris		28807008
Hypertrophy of tonsils	Hypertrophy of tonsils
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Hypoplasia of the optic nerve	Hypoplasia of the optic nerve		28807008
Iron deficiency anemia	Iron deficiency anemia
Micrognathism	Micrognathism		28807008
Microstomia	Microstomia		28807008
Posteriorly rotated ear	Posteriorly rotated ear
Postnatal asphyxia	Asphyxia Neonatorum		28807008
Ptosis	Blepharoptosis, Ptosis	rs139920573
Pulmonary stenosis	Pulmonary Stenosis		28807008
Strabismus	Strabismus

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