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CDC6 (cell division cycle 6)

Gene

990

Cell division cycle 6

CDC6

CDC18L, HsCDC18, HsCDC6, MGORS5

17q21.2

The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus durin

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs4135010	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs200468440	C>G	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs387906842	C>G,T	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(279)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001022	hsa-miR-26a-5p	Western blot	18713946
MIRT016523	hsa-miR-193b-3p	Microarray	20304954
MIRT021602	hsa-miR-142-3p	Microarray	17612493
MIRT041141	hsa-miR-501-5p	CLASH	23622248
MIRT040157	hsa-miR-615-3p	CLASH	23622248
MIRT038272	hsa-miR-361-3p	CLASH	23622248
MIRT438186	hsa-miR-675-5p	Luciferase reporter assay, qRT-PCR, Western blot	24532688
MIRT438186	hsa-miR-675-5p	Luciferase reporter assay, qRT-PCR, Western blot	24532688
MIRT707722	hsa-miR-548c-3p	HITS-CLIP	21572407
MIRT707721	hsa-miR-548aa	HITS-CLIP	21572407
MIRT707720	hsa-miR-548ap-3p	HITS-CLIP	21572407
MIRT707719	hsa-miR-548t-3p	HITS-CLIP	21572407
MIRT707718	hsa-miR-548as-3p	HITS-CLIP	21572407
MIRT707717	hsa-miR-548at-3p	HITS-CLIP	21572407
MIRT707716	hsa-miR-548ay-3p	HITS-CLIP	21572407
MIRT707715	hsa-miR-6732-3p	HITS-CLIP	21572407
MIRT707714	hsa-miR-10a-5p	HITS-CLIP	21572407
MIRT707713	hsa-miR-10b-5p	HITS-CLIP	21572407
MIRT707712	hsa-miR-339-5p	HITS-CLIP	21572407
MIRT707711	hsa-miR-4421	HITS-CLIP	21572407
MIRT707710	hsa-miR-5699-3p	HITS-CLIP	21572407
MIRT707708	hsa-miR-6895-3p	HITS-CLIP	21572407
MIRT707709	hsa-miR-593-3p	HITS-CLIP	21572407
MIRT707707	hsa-miR-4684-5p	HITS-CLIP	21572407
MIRT707706	hsa-miR-6818-3p	HITS-CLIP	21572407
MIRT728009	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT728008	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT728007	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT001022	hsa-miR-26a-5p	Luciferase reporter assay	27158389
MIRT707722	hsa-miR-548c-3p	HITS-CLIP	21572407
MIRT707721	hsa-miR-548aa	HITS-CLIP	21572407
MIRT707720	hsa-miR-548ap-3p	HITS-CLIP	21572407
MIRT707719	hsa-miR-548t-3p	HITS-CLIP	21572407
MIRT707718	hsa-miR-548as-3p	HITS-CLIP	21572407
MIRT707717	hsa-miR-548at-3p	HITS-CLIP	21572407
MIRT707716	hsa-miR-548ay-3p	HITS-CLIP	21572407
MIRT707715	hsa-miR-6732-3p	HITS-CLIP	21572407
MIRT707714	hsa-miR-10a-5p	HITS-CLIP	21572407
MIRT707713	hsa-miR-10b-5p	HITS-CLIP	21572407
MIRT707712	hsa-miR-339-5p	HITS-CLIP	21572407
MIRT707711	hsa-miR-4421	HITS-CLIP	21572407
MIRT707710	hsa-miR-5699-3p	HITS-CLIP	21572407
MIRT707708	hsa-miR-6895-3p	HITS-CLIP	21572407
MIRT707709	hsa-miR-593-3p	HITS-CLIP	21572407
MIRT707707	hsa-miR-4684-5p	HITS-CLIP	21572407
MIRT707706	hsa-miR-6818-3p	HITS-CLIP	21572407
MIRT755802	miR-22	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR, RNA pull down assay	37501932
MIRT878529	hsa-miR-10a	CLIP-seq
MIRT878530	hsa-miR-10b	CLIP-seq
MIRT878531	hsa-miR-1249	CLIP-seq
MIRT878532	hsa-miR-1279	CLIP-seq
MIRT878533	hsa-miR-1297	CLIP-seq
MIRT878534	hsa-miR-1302	CLIP-seq
MIRT878535	hsa-miR-1321	CLIP-seq
MIRT878536	hsa-miR-136	CLIP-seq
MIRT878537	hsa-miR-199a-5p	CLIP-seq
MIRT878538	hsa-miR-199b-5p	CLIP-seq
MIRT878539	hsa-miR-24	CLIP-seq
MIRT878540	hsa-miR-26a	CLIP-seq
MIRT878541	hsa-miR-26b	CLIP-seq
MIRT878542	hsa-miR-3064-3p	CLIP-seq
MIRT878543	hsa-miR-3115	CLIP-seq
MIRT878544	hsa-miR-3130-3p	CLIP-seq
MIRT878545	hsa-miR-3162-5p	CLIP-seq
MIRT878546	hsa-miR-3178	CLIP-seq
MIRT878547	hsa-miR-3189-3p	CLIP-seq
MIRT878548	hsa-miR-329	CLIP-seq
MIRT878549	hsa-miR-3529	CLIP-seq
MIRT878550	hsa-miR-3613-5p	CLIP-seq
MIRT878551	hsa-miR-362-3p	CLIP-seq
MIRT878552	hsa-miR-3662	CLIP-seq
MIRT878553	hsa-miR-3667-5p	CLIP-seq
MIRT878554	hsa-miR-3689a-3p	CLIP-seq
MIRT878555	hsa-miR-3689c	CLIP-seq
MIRT878556	hsa-miR-371b-3p	CLIP-seq
MIRT878557	hsa-miR-379	CLIP-seq
MIRT878558	hsa-miR-3909	CLIP-seq
MIRT878559	hsa-miR-3941	CLIP-seq
MIRT878560	hsa-miR-3974	CLIP-seq
MIRT878561	hsa-miR-409-3p	CLIP-seq
MIRT878562	hsa-miR-4282	CLIP-seq
MIRT878563	hsa-miR-4284	CLIP-seq
MIRT878564	hsa-miR-4298	CLIP-seq
MIRT878565	hsa-miR-4318	CLIP-seq
MIRT878566	hsa-miR-4436b-3p	CLIP-seq
MIRT878567	hsa-miR-4451	CLIP-seq
MIRT878568	hsa-miR-4465	CLIP-seq
MIRT878569	hsa-miR-4486	CLIP-seq
MIRT878570	hsa-miR-4536	CLIP-seq
MIRT878571	hsa-miR-4648	CLIP-seq
MIRT878572	hsa-miR-4650-3p	CLIP-seq
MIRT878573	hsa-miR-4654	CLIP-seq
MIRT878574	hsa-miR-4663	CLIP-seq
MIRT878575	hsa-miR-4672	CLIP-seq
MIRT878576	hsa-miR-4686	CLIP-seq
MIRT878577	hsa-miR-4691-5p	CLIP-seq
MIRT878578	hsa-miR-4731-3p	CLIP-seq
MIRT878579	hsa-miR-4739	CLIP-seq
MIRT878580	hsa-miR-4756-5p	CLIP-seq
MIRT878581	hsa-miR-4760-3p	CLIP-seq
MIRT878582	hsa-miR-4761-5p	CLIP-seq
MIRT878583	hsa-miR-4762-5p	CLIP-seq
MIRT878584	hsa-miR-4769-5p	CLIP-seq
MIRT878585	hsa-miR-4778-5p	CLIP-seq
MIRT878586	hsa-miR-4789-5p	CLIP-seq
MIRT878587	hsa-miR-4793-3p	CLIP-seq
MIRT878588	hsa-miR-4795-3p	CLIP-seq
MIRT878589	hsa-miR-4801	CLIP-seq
MIRT878590	hsa-miR-541	CLIP-seq
MIRT878591	hsa-miR-545	CLIP-seq
MIRT878592	hsa-miR-548u	CLIP-seq
MIRT878593	hsa-miR-555	CLIP-seq
MIRT878594	hsa-miR-593	CLIP-seq
MIRT878595	hsa-miR-603	CLIP-seq
MIRT878596	hsa-miR-654-5p	CLIP-seq
MIRT878597	hsa-miR-656	CLIP-seq
MIRT878598	hsa-miR-664	CLIP-seq
MIRT878599	hsa-miR-767-5p	CLIP-seq
MIRT878529	hsa-miR-10a	CLIP-seq
MIRT878530	hsa-miR-10b	CLIP-seq
MIRT1960435	hsa-miR-1202	CLIP-seq
MIRT1960436	hsa-miR-1285	CLIP-seq
MIRT1960437	hsa-miR-1299	CLIP-seq
MIRT1960438	hsa-miR-139-3p	CLIP-seq
MIRT1960439	hsa-miR-1827	CLIP-seq
MIRT1960440	hsa-miR-25	CLIP-seq
MIRT1960441	hsa-miR-31	CLIP-seq
MIRT1960442	hsa-miR-3123	CLIP-seq
MIRT1960443	hsa-miR-3137	CLIP-seq
MIRT1960444	hsa-miR-3187-5p	CLIP-seq
MIRT1960445	hsa-miR-3194-5p	CLIP-seq
MIRT1960446	hsa-miR-32	CLIP-seq
MIRT1960447	hsa-miR-33a	CLIP-seq
MIRT1960448	hsa-miR-33b	CLIP-seq
MIRT1960449	hsa-miR-363	CLIP-seq
MIRT1960450	hsa-miR-367	CLIP-seq
MIRT1960451	hsa-miR-3929	CLIP-seq
MIRT1960452	hsa-miR-3972	CLIP-seq
MIRT1960453	hsa-miR-4325	CLIP-seq
MIRT1960454	hsa-miR-4419b	CLIP-seq
MIRT1960455	hsa-miR-4427	CLIP-seq
MIRT878566	hsa-miR-4436b-3p	CLIP-seq
MIRT1960456	hsa-miR-4478	CLIP-seq
MIRT1960457	hsa-miR-4521	CLIP-seq
MIRT1960458	hsa-miR-4649-3p	CLIP-seq
MIRT1960459	hsa-miR-4782-5p	CLIP-seq
MIRT1960460	hsa-miR-485-5p	CLIP-seq
MIRT1960461	hsa-miR-508-5p	CLIP-seq
MIRT1960462	hsa-miR-516b	CLIP-seq
MIRT878590	hsa-miR-541	CLIP-seq
MIRT878591	hsa-miR-545	CLIP-seq
MIRT878592	hsa-miR-548u	CLIP-seq
MIRT878594	hsa-miR-593	CLIP-seq
MIRT1960463	hsa-miR-612	CLIP-seq
MIRT878596	hsa-miR-654-5p	CLIP-seq
MIRT1960464	hsa-miR-661	CLIP-seq
MIRT1960465	hsa-miR-766	CLIP-seq
MIRT1960466	hsa-miR-92a	CLIP-seq
MIRT1960467	hsa-miR-92b	CLIP-seq
MIRT1960435	hsa-miR-1202	CLIP-seq
MIRT2197212	hsa-miR-1253	CLIP-seq
MIRT878532	hsa-miR-1279	CLIP-seq
MIRT1960436	hsa-miR-1285	CLIP-seq
MIRT878533	hsa-miR-1297	CLIP-seq
MIRT878535	hsa-miR-1321	CLIP-seq
MIRT2197213	hsa-miR-1972	CLIP-seq
MIRT1960440	hsa-miR-25	CLIP-seq
MIRT878540	hsa-miR-26a	CLIP-seq
MIRT878541	hsa-miR-26b	CLIP-seq
MIRT1960442	hsa-miR-3123	CLIP-seq
MIRT1960443	hsa-miR-3137	CLIP-seq
MIRT878545	hsa-miR-3162-5p	CLIP-seq
MIRT2197214	hsa-miR-3174	CLIP-seq
MIRT1960444	hsa-miR-3187-5p	CLIP-seq
MIRT1960445	hsa-miR-3194-5p	CLIP-seq
MIRT1960446	hsa-miR-32	CLIP-seq
MIRT878548	hsa-miR-329	CLIP-seq
MIRT2197215	hsa-miR-342-5p	CLIP-seq
MIRT2197216	hsa-miR-34b	CLIP-seq
MIRT2197217	hsa-miR-3614-5p	CLIP-seq
MIRT878551	hsa-miR-362-3p	CLIP-seq
MIRT1960449	hsa-miR-363	CLIP-seq
MIRT2197218	hsa-miR-3656	CLIP-seq
MIRT1960450	hsa-miR-367	CLIP-seq
MIRT2197219	hsa-miR-3919	CLIP-seq
MIRT2197220	hsa-miR-3925-5p	CLIP-seq
MIRT878559	hsa-miR-3941	CLIP-seq
MIRT1960452	hsa-miR-3972	CLIP-seq
MIRT878560	hsa-miR-3974	CLIP-seq
MIRT878562	hsa-miR-4282	CLIP-seq
MIRT1960453	hsa-miR-4325	CLIP-seq
MIRT1960455	hsa-miR-4427	CLIP-seq
MIRT878568	hsa-miR-4465	CLIP-seq
MIRT2197221	hsa-miR-4468	CLIP-seq
MIRT2197222	hsa-miR-4474-5p	CLIP-seq
MIRT2197223	hsa-miR-4646-5p	CLIP-seq
MIRT2197224	hsa-miR-4650-5p	CLIP-seq
MIRT2197225	hsa-miR-4651	CLIP-seq
MIRT2197226	hsa-miR-4664-5p	CLIP-seq
MIRT878575	hsa-miR-4672	CLIP-seq
MIRT2197227	hsa-miR-4714-3p	CLIP-seq
MIRT2197228	hsa-miR-4718	CLIP-seq
MIRT2197229	hsa-miR-4732-5p	CLIP-seq
MIRT878579	hsa-miR-4739	CLIP-seq
MIRT2197230	hsa-miR-4747-3p	CLIP-seq
MIRT2197231	hsa-miR-4747-5p	CLIP-seq
MIRT878580	hsa-miR-4756-5p	CLIP-seq
MIRT878581	hsa-miR-4760-3p	CLIP-seq
MIRT878582	hsa-miR-4761-5p	CLIP-seq
MIRT878586	hsa-miR-4789-5p	CLIP-seq
MIRT2197232	hsa-miR-490-3p	CLIP-seq
MIRT1960461	hsa-miR-508-5p	CLIP-seq
MIRT2197233	hsa-miR-523	CLIP-seq
MIRT878590	hsa-miR-541	CLIP-seq
MIRT878595	hsa-miR-603	CLIP-seq
MIRT2197234	hsa-miR-608	CLIP-seq
MIRT1960463	hsa-miR-612	CLIP-seq
MIRT878596	hsa-miR-654-5p	CLIP-seq
MIRT1960464	hsa-miR-661	CLIP-seq
MIRT878598	hsa-miR-664	CLIP-seq
MIRT1960465	hsa-miR-766	CLIP-seq
MIRT2197235	hsa-miR-921	CLIP-seq
MIRT1960466	hsa-miR-92a	CLIP-seq
MIRT1960467	hsa-miR-92b	CLIP-seq
MIRT2197214	hsa-miR-3174	CLIP-seq
MIRT2197216	hsa-miR-34b	CLIP-seq
MIRT2197218	hsa-miR-3656	CLIP-seq
MIRT2197221	hsa-miR-4468	CLIP-seq
MIRT2197223	hsa-miR-4646-5p	CLIP-seq
MIRT2197227	hsa-miR-4714-3p	CLIP-seq
MIRT2197228	hsa-miR-4718	CLIP-seq
MIRT2197231	hsa-miR-4747-5p	CLIP-seq
MIRT2197232	hsa-miR-490-3p	CLIP-seq
MIRT2197235	hsa-miR-921	CLIP-seq
MIRT878529	hsa-miR-10a	CLIP-seq
MIRT878530	hsa-miR-10b	CLIP-seq
MIRT2446658	hsa-miR-3926	CLIP-seq
MIRT2446659	hsa-miR-548s	CLIP-seq
MIRT878594	hsa-miR-593	CLIP-seq
MIRT878529	hsa-miR-10a	CLIP-seq
MIRT878530	hsa-miR-10b	CLIP-seq
MIRT1960436	hsa-miR-1285	CLIP-seq
MIRT1960438	hsa-miR-139-3p	CLIP-seq
MIRT1960440	hsa-miR-25	CLIP-seq
MIRT1960444	hsa-miR-3187-5p	CLIP-seq
MIRT1960446	hsa-miR-32	CLIP-seq
MIRT1960449	hsa-miR-363	CLIP-seq
MIRT1960450	hsa-miR-367	CLIP-seq
MIRT2446658	hsa-miR-3926	CLIP-seq
MIRT1960453	hsa-miR-4325	CLIP-seq
MIRT1960461	hsa-miR-508-5p	CLIP-seq
MIRT2446659	hsa-miR-548s	CLIP-seq
MIRT878594	hsa-miR-593	CLIP-seq
MIRT1960463	hsa-miR-612	CLIP-seq
MIRT1960464	hsa-miR-661	CLIP-seq
MIRT1960465	hsa-miR-766	CLIP-seq
MIRT1960466	hsa-miR-92a	CLIP-seq
MIRT1960467	hsa-miR-92b	CLIP-seq
MIRT878529	hsa-miR-10a	CLIP-seq
MIRT878530	hsa-miR-10b	CLIP-seq
MIRT1960436	hsa-miR-1285	CLIP-seq
MIRT2677864	hsa-miR-2116	CLIP-seq
MIRT1960440	hsa-miR-25	CLIP-seq
MIRT1960444	hsa-miR-3187-5p	CLIP-seq
MIRT1960446	hsa-miR-32	CLIP-seq
MIRT1960449	hsa-miR-363	CLIP-seq
MIRT1960450	hsa-miR-367	CLIP-seq
MIRT2446658	hsa-miR-3926	CLIP-seq
MIRT1960453	hsa-miR-4325	CLIP-seq
MIRT2677865	hsa-miR-495	CLIP-seq
MIRT1960461	hsa-miR-508-5p	CLIP-seq
MIRT2446659	hsa-miR-548s	CLIP-seq
MIRT2677866	hsa-miR-561	CLIP-seq
MIRT878594	hsa-miR-593	CLIP-seq
MIRT1960463	hsa-miR-612	CLIP-seq
MIRT1960464	hsa-miR-661	CLIP-seq
MIRT1960465	hsa-miR-766	CLIP-seq
MIRT1960466	hsa-miR-92a	CLIP-seq
MIRT1960467	hsa-miR-92b	CLIP-seq

Transcription factors

Show/Hide all(8)

Transcription factor	Regulation	Reference
AR	Activation	24583551
AR	Unknown	18541154
ARID3A	Unknown	23659165
E2F1	Unknown	18541154
E2F3	Unknown	18541154
FOXM1	Activation	24583551
GATA1	Activation	22871742
MSC	Repression	15213307

Show/Hide all(36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000076	Process	DNA replication checkpoint	TAS	9566895
GO:0000079	Process	Regulation of cyclin-dependent protein serine/threonine kinase activity	TAS	9566895
GO:0000082	Process	G1/S transition of mitotic cell cycle	TAS
GO:0000083	Process	Regulation of transcription involved in G1/S transition of mitotic cell cycle	TAS
GO:0000166	Function	Nucleotide binding	TAS	8990175
GO:0000278	Process	Mitotic cell cycle	IMP	22581055
GO:0000922	Component	Spindle pole	IDA	21041660
GO:0003688	Function	DNA replication origin binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	14672932, 15232106, 18320024, 19150984, 21041660, 23397142, 25241761, 25990725
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	21041660, 21383955
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	21383955
GO:0005737	Component	Cytoplasm	TAS	9566895
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006260	Process	DNA replication	TAS
GO:0006270	Process	DNA replication initiation	IEA
GO:0007089	Process	Traversing start control point of mitotic cell cycle	TAS	9566895
GO:0008156	Process	Negative regulation of DNA replication	TAS	9566895
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	9566895
GO:0019900	Function	Kinase binding	IPI	21041660
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	IMP	21041660
GO:0032467	Process	Positive regulation of cytokinesis	IMP	21041660
GO:0033314	Process	Mitotic DNA replication checkpoint	IBA	21873635
GO:0045171	Component	Intercellular bridge	IDA
GO:0045737	Process	Positive regulation of cyclin-dependent protein serine/threonine kinase activity	IEA
GO:0048146	Process	Positive regulation of fibroblast proliferation	IEA
GO:0051233	Component	Spindle midzone	IDA	21041660
GO:0051301	Process	Cell division	IEA
GO:0051984	Process	Positive regulation of chromosome segregation	IDA	21041660
GO:0072686	Component	Mitotic spindle	IDA
GO:1904117	Process	Cellular response to vasopressin	IEA
GO:1904385	Process	Cellular response to angiotensin	IEA

MIM	HGNC	e!Ensembl
602627	1744	ENSG00000094804

Protein

UniProt ID

Q99741

Protein name

Cell division control protein 6 homolog (CDC6-related protein) (Cdc18-related protein) (HsCdc18) (p62(cdc6)) (HsCDC6)

Protein function

Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated.

PDB

2CCH , 2CCI , 4I5L , 4I5N , 8HT7 , 8RWV , 8S0E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13401	AAA_22	188 → 323	AAA domain	Domain
PF17872	AAA_lid_10	352 → 411	AAA lid domain	Domain
PF09079	Cdc6_C	465 → 544	CDC6, C terminal winged helix domain	Domain

Sequence

MPQTRSQAQATISFPKRKLSRALNKAKNSSDAKLEPTNVQTVTCSPRVKALPLSPRKRLG
DDNLCNTPHLPPCSPPKQGKKENGPPHSHTLKGRRLVFDNQLTIKSPSKRELAKVHQNKI
LSSVRKSQEITTNSEQRCPLKKESACVRLFKQEGTCYQQAKLVLNTAVPDRLPAREREMD
VIRNFLREHICGKKAGSLYLSGAPGTGKTACLSRILQDLKKELKGFKTIMLNCMSLRTAQ
AVFPAIAQEICQEEVSRPAGKDMMRKLEKHMTAEKGPMIVLVLDEMDQLDSKGQDVLYTL
FEWPWLSNSHLVLIGIANTLDLTDRILPRLQAREKCKPQLLNFPPYTRNQIVTILQDRLN
QVSRDQVLDNAAVQFCARKVSAVSGDVRKALDVCRRAIEIVESDVKSQTILKPLSECKSP
SEPLIPKRVGLIHISQVISEVDGNRMTLSQEGAQDSFPLQQKILVCSLMLLIRQLKIKEV
TLGKLYEAYSKVCRKQQVAAVDQSECLSLSGLLEARGILGLKRNKETRLTKVFFKIEEKE
IEHALKDKALIGNILATGLP

Sequence length

560

Interactions

View interactions

	KEGG		Reactome
	Cell cycle Chemical carcinogenesis - receptor activation		Transcription of E2F targets under negative control by DREAM complex Activation of ATR in response to replication stress CDC6 association with the ORC:origin complex CDT1 association with the CDC6:ORC:origin complex Assembly of the pre-replicative complex Orc1 removal from chromatin Activation of the pre-replicative complex CDK-mediated phosphorylation and removal of Cdc6 G1/S-Specific Transcription

Associated diseases

Show/Hide Causal Diseases (8)

Causal
Disease name	Disease term	dbSNP ID	References
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs281865153, rs281865154, rs864321680, rs864321681, rs1057517670, rs1085307122, rs1064794325, rs1884302, rs1555750816, rs1599823350
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
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
Meier-gorlin syndrome	MEIER-GORLIN SYNDROME 5	rs121918494, rs387906826, rs143141689, rs387906828, rs1557573504, rs1378348220, rs387906842, rs387906847, rs797044461, rs387906917, rs147914553, rs779871947, rs387906918, rs200652608, rs786205258, rs387906969, rs587780305, rs864309486, rs864309487, rs864309488, rs797045852, rs1085307083, rs754080445, rs879255632, rs879255633, rs146559223, rs879255692, rs1131692169, rs777153067, rs751663397, rs752023208	21358632, 9566895, 11477602, 22333897
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
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Myeloproliferative disorder	Chronic myeloproliferative disorder	rs267606708, rs77375493	22333897
Seckel syndrome	Seckel syndrome	rs864321658, rs587776883, rs966888627, rs1349385657, rs1164567042, rs387907327, rs587777614, rs587777851, rs587777852, rs797045403, rs797045452, rs797045450, rs797045449, rs797045448, rs777893196, rs797045447, rs797045454, rs747680111, rs767664526, rs864622784, rs746387482, rs757613817, rs773917653, rs762396810, rs1060499557, rs1131691823, rs1553760567, rs1342429887, rs1553761113, rs1481733213, rs373844676	22333897

Show/Hide Unknown Diseases (26)

Unknown
Disease name	Disease term	dbSNP ID	References
Camptodactyly of fingers	Clinodactyly of the 5th finger
Clinodactyly	Clinodactyly of fingers, Clinodactyly
Breast aplasia	Congenital absence of breast
Anotia	Congenital absence of external ear
Mandibular aplasia	Congenital absence of mandible
Congenital hypoplasia of penis	Congenital hypoplasia of penis
Dwarfism	Dwarfism
Ear diseases	EAR, PATELLA, SHORT STATURE SYNDROME		21358632, 23516378
Ear-patella-short stature syndrome	Ear-patella-short stature syndrome
Epispadias	Epispadias
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Hypertrophy of clitoris	Hypertrophy of clitoris
Hypoplasia of the maxilla	Hypoplasia of the maxilla
Hypospadias	Hypospadias
Liver carcinoma	Liver carcinoma		28284560
Micrognathism	Micrognathism
Microstomia	Microstomia
Microtia	Congenital small ears		9566895
Motor delay	Clumsiness - motor delay
Sclerocystic ovaries	Sclerocystic Ovaries		21411543
Penis agenesis	Penis agenesis
Polycystic ovary syndrome	Polycystic Ovary Syndrome		21411543
Posteriorly rotated ear	Posteriorly rotated ear
Respiratory failure	Respiratory Failure
Specific learning disorder	Specific learning disability	rs1057519497
Submucosal cleft palate	Submucous cleft of hard palate

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