CDT1 (chromatin licensing and DNA replication factor 1)

Gene

• Entrez ID: 81620
• Gene name: Chromatin licensing and DNA replication factor 1
• Gene symbol: CDT1
• Synonyms: DUP, RIS2
• Chromosome: 16
• Chromosome location: 16q24.3
• Summary: The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating r

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs3218727	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144843732	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147914553	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs200652608	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs387906917	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs387906918	G>A	Pathogenic	Missense variant, coding sequence variant
rs587780305	G>A,C,T	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016534	hsa-miR-193b-3p	Microarray	20304954
MIRT050529	hsa-miR-20a-5p	CLASH	23622248
MIRT045201	hsa-miR-186-5p	CLASH	23622248
MIRT635630	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT718835	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT637710	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT637709	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT635629	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT718834	hsa-miR-939-3p	HITS-CLIP	19536157
MIRT718833	hsa-miR-6852-5p	HITS-CLIP	19536157
MIRT718832	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT635627	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT635626	hsa-miR-1976	HITS-CLIP	19536157
MIRT635625	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT718831	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT718830	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT718829	hsa-miR-23a-5p	HITS-CLIP	19536157
MIRT718828	hsa-miR-23b-5p	HITS-CLIP	19536157
MIRT718827	hsa-miR-1271-3p	HITS-CLIP	19536157
MIRT718826	hsa-miR-550a-3-5p	HITS-CLIP	19536157
MIRT718825	hsa-miR-550a-5p	HITS-CLIP	19536157
MIRT635624	hsa-miR-377-3p	HITS-CLIP	19536157
MIRT718824	hsa-miR-1343-3p	HITS-CLIP	19536157
MIRT718823	hsa-miR-6783-3p	HITS-CLIP	19536157
MIRT635623	hsa-miR-4279	HITS-CLIP	19536157
MIRT718821	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT718822	hsa-miR-550b-2-5p	HITS-CLIP	19536157
MIRT635630	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT637710	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT637709	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT635629	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT635628	hsa-miR-325	HITS-CLIP	23824327
MIRT635627	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT635626	hsa-miR-1976	HITS-CLIP	23824327
MIRT635625	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT635623	hsa-miR-4279	HITS-CLIP	23824327
MIRT635630	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT635629	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT635628	hsa-miR-325	HITS-CLIP	23824327
MIRT635627	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT635626	hsa-miR-1976	HITS-CLIP	23824327
MIRT635625	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT635624	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT635623	hsa-miR-4279	HITS-CLIP	23824327
MIRT285542	hsa-miR-4753-5p	PAR-CLIP	20371350
MIRT285538	hsa-miR-4476	PAR-CLIP	20371350
MIRT285546	hsa-miR-6876-5p	PAR-CLIP	20371350
MIRT344142	hsa-miR-2681-3p	PAR-CLIP	20371350
MIRT344141	hsa-miR-96-3p	PAR-CLIP	20371350
MIRT285530	hsa-miR-520g-3p	PAR-CLIP	20371350
MIRT285531	hsa-miR-520h	PAR-CLIP	20371350
MIRT285540	hsa-miR-4667-5p	PAR-CLIP	20371350
MIRT285541	hsa-miR-4700-5p	PAR-CLIP	20371350
MIRT285547	hsa-miR-8089	PAR-CLIP	20371350
MIRT285539	hsa-miR-4493	PAR-CLIP	20371350
MIRT564062	hsa-miR-4731-5p	PAR-CLIP	20371350
MIRT285536	hsa-miR-3926	PAR-CLIP	20371350
MIRT285533	hsa-miR-3153	PAR-CLIP	20371350
MIRT285544	hsa-miR-6733-5p	PAR-CLIP	20371350
MIRT285545	hsa-miR-6739-5p	PAR-CLIP	20371350
MIRT564061	hsa-miR-4271	PAR-CLIP	20371350
MIRT564060	hsa-miR-4725-3p	PAR-CLIP	20371350
MIRT564059	hsa-miR-6780b-5p	PAR-CLIP	20371350
MIRT285532	hsa-miR-2110	PAR-CLIP	20371350
MIRT635630	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT718835	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT637710	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT637709	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT635629	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT718834	hsa-miR-939-3p	HITS-CLIP	19536157
MIRT718833	hsa-miR-6852-5p	HITS-CLIP	19536157
MIRT718832	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT635627	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT635626	hsa-miR-1976	HITS-CLIP	19536157
MIRT635625	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT718831	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT718830	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT718829	hsa-miR-23a-5p	HITS-CLIP	19536157
MIRT718828	hsa-miR-23b-5p	HITS-CLIP	19536157
MIRT718827	hsa-miR-1271-3p	HITS-CLIP	19536157
MIRT718826	hsa-miR-550a-3-5p	HITS-CLIP	19536157
MIRT718825	hsa-miR-550a-5p	HITS-CLIP	19536157
MIRT635624	hsa-miR-377-3p	HITS-CLIP	19536157
MIRT718824	hsa-miR-1343-3p	HITS-CLIP	19536157
MIRT718823	hsa-miR-6783-3p	HITS-CLIP	19536157
MIRT635623	hsa-miR-4279	HITS-CLIP	19536157
MIRT718821	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT718822	hsa-miR-550b-2-5p	HITS-CLIP	19536157
MIRT635630	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT637710	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT637709	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT635629	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT635628	hsa-miR-325	HITS-CLIP	23824327
MIRT635627	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT635626	hsa-miR-1976	HITS-CLIP	23824327
MIRT635625	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT635623	hsa-miR-4279	HITS-CLIP	23824327
MIRT635630	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT635629	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT635628	hsa-miR-325	HITS-CLIP	23824327
MIRT635627	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT635626	hsa-miR-1976	HITS-CLIP	23824327
MIRT635625	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT635624	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT635623	hsa-miR-4279	HITS-CLIP	23824327
MIRT285542	hsa-miR-4753-5p	PAR-CLIP	20371350
MIRT285538	hsa-miR-4476	PAR-CLIP	20371350
MIRT285546	hsa-miR-6876-5p	PAR-CLIP	20371350
MIRT344142	hsa-miR-2681-3p	PAR-CLIP	20371350
MIRT344141	hsa-miR-96-3p	PAR-CLIP	20371350
MIRT285530	hsa-miR-520g-3p	PAR-CLIP	20371350
MIRT285531	hsa-miR-520h	PAR-CLIP	20371350
MIRT285540	hsa-miR-4667-5p	PAR-CLIP	20371350
MIRT285541	hsa-miR-4700-5p	PAR-CLIP	20371350
MIRT285547	hsa-miR-8089	PAR-CLIP	20371350
MIRT285539	hsa-miR-4493	PAR-CLIP	20371350
MIRT564062	hsa-miR-4731-5p	PAR-CLIP	20371350
MIRT285536	hsa-miR-3926	PAR-CLIP	20371350
MIRT285533	hsa-miR-3153	PAR-CLIP	20371350
MIRT285544	hsa-miR-6733-5p	PAR-CLIP	20371350
MIRT285545	hsa-miR-6739-5p	PAR-CLIP	20371350
MIRT564061	hsa-miR-4271	PAR-CLIP	20371350
MIRT564060	hsa-miR-4725-3p	PAR-CLIP	20371350
MIRT564059	hsa-miR-6780b-5p	PAR-CLIP	20371350
MIRT285532	hsa-miR-2110	PAR-CLIP	20371350
MIRT882654	hsa-miR-1184	CLIP-seq
MIRT882655	hsa-miR-1193	CLIP-seq
MIRT882656	hsa-miR-1224-3p	CLIP-seq
MIRT882657	hsa-miR-1225-3p	CLIP-seq
MIRT882658	hsa-miR-1228	CLIP-seq
MIRT882659	hsa-miR-1279	CLIP-seq
MIRT882660	hsa-miR-1343	CLIP-seq
MIRT882661	hsa-miR-1913	CLIP-seq
MIRT882662	hsa-miR-192	CLIP-seq
MIRT882663	hsa-miR-200b	CLIP-seq
MIRT882664	hsa-miR-200c	CLIP-seq
MIRT882665	hsa-miR-215	CLIP-seq
MIRT882666	hsa-miR-2392	CLIP-seq
MIRT882667	hsa-miR-3064-3p	CLIP-seq
MIRT882668	hsa-miR-3176	CLIP-seq
MIRT882669	hsa-miR-324-3p	CLIP-seq
MIRT882670	hsa-miR-3677-5p	CLIP-seq
MIRT882671	hsa-miR-377	CLIP-seq
MIRT882672	hsa-miR-3922-3p	CLIP-seq
MIRT882673	hsa-miR-3943	CLIP-seq
MIRT882674	hsa-miR-4266	CLIP-seq
MIRT882675	hsa-miR-429	CLIP-seq
MIRT882676	hsa-miR-4313	CLIP-seq
MIRT882677	hsa-miR-4687-3p	CLIP-seq
MIRT882678	hsa-miR-4690-3p	CLIP-seq
MIRT882679	hsa-miR-4695-5p	CLIP-seq
MIRT882680	hsa-miR-4715-3p	CLIP-seq
MIRT882681	hsa-miR-4724-5p	CLIP-seq
MIRT882682	hsa-miR-4761-5p	CLIP-seq
MIRT882683	hsa-miR-4763-5p	CLIP-seq
MIRT882684	hsa-miR-4779	CLIP-seq
MIRT882685	hsa-miR-550a	CLIP-seq
MIRT882686	hsa-miR-651	CLIP-seq
MIRT882687	hsa-miR-877	CLIP-seq
MIRT1961555	hsa-miR-106a	CLIP-seq
MIRT1961556	hsa-miR-106b	CLIP-seq
MIRT882655	hsa-miR-1193	CLIP-seq
MIRT1961557	hsa-miR-1207-5p	CLIP-seq
MIRT882656	hsa-miR-1224-3p	CLIP-seq
MIRT1961558	hsa-miR-1237	CLIP-seq
MIRT1961559	hsa-miR-1266	CLIP-seq
MIRT1961560	hsa-miR-1291	CLIP-seq
MIRT1961561	hsa-miR-1299	CLIP-seq
MIRT1961562	hsa-miR-150	CLIP-seq
MIRT1961563	hsa-miR-17	CLIP-seq
MIRT882661	hsa-miR-1913	CLIP-seq
MIRT882662	hsa-miR-192	CLIP-seq
MIRT1961564	hsa-miR-203	CLIP-seq
MIRT1961565	hsa-miR-20a	CLIP-seq
MIRT1961566	hsa-miR-20b	CLIP-seq
MIRT882665	hsa-miR-215	CLIP-seq
MIRT882666	hsa-miR-2392	CLIP-seq
MIRT1961567	hsa-miR-2467-5p	CLIP-seq
MIRT1961568	hsa-miR-2964a-5p	CLIP-seq
MIRT1961569	hsa-miR-302a	CLIP-seq
MIRT1961570	hsa-miR-302b	CLIP-seq
MIRT1961571	hsa-miR-302c	CLIP-seq
MIRT1961572	hsa-miR-302d	CLIP-seq
MIRT1961573	hsa-miR-302e	CLIP-seq
MIRT1961574	hsa-miR-3170	CLIP-seq
MIRT882668	hsa-miR-3176	CLIP-seq
MIRT882669	hsa-miR-324-3p	CLIP-seq
MIRT1961575	hsa-miR-328	CLIP-seq
MIRT1961576	hsa-miR-3612	CLIP-seq
MIRT1961577	hsa-miR-372	CLIP-seq
MIRT1961578	hsa-miR-373	CLIP-seq
MIRT1961579	hsa-miR-3918	CLIP-seq
MIRT882672	hsa-miR-3922-3p	CLIP-seq
MIRT1961580	hsa-miR-3925-3p	CLIP-seq
MIRT1961581	hsa-miR-4438	CLIP-seq
MIRT1961582	hsa-miR-4443	CLIP-seq
MIRT1961583	hsa-miR-4508	CLIP-seq
MIRT1961584	hsa-miR-4518	CLIP-seq
MIRT1961585	hsa-miR-4635	CLIP-seq
MIRT1961586	hsa-miR-4638-3p	CLIP-seq
MIRT1961587	hsa-miR-4685-5p	CLIP-seq
MIRT1961588	hsa-miR-4716-5p	CLIP-seq
MIRT882681	hsa-miR-4724-5p	CLIP-seq
MIRT1961589	hsa-miR-4757-5p	CLIP-seq
MIRT882682	hsa-miR-4761-5p	CLIP-seq
MIRT1961590	hsa-miR-4763-3p	CLIP-seq
MIRT1961591	hsa-miR-4782-5p	CLIP-seq
MIRT1961592	hsa-miR-486-3p	CLIP-seq
MIRT1961593	hsa-miR-5095	CLIP-seq
MIRT1961594	hsa-miR-512-3p	CLIP-seq
MIRT1961595	hsa-miR-516b	CLIP-seq
MIRT1961596	hsa-miR-519d	CLIP-seq
MIRT1961597	hsa-miR-520a-3p	CLIP-seq
MIRT1961598	hsa-miR-520b	CLIP-seq
MIRT1961599	hsa-miR-520c-3p	CLIP-seq
MIRT1961600	hsa-miR-520d-3p	CLIP-seq
MIRT1961601	hsa-miR-520e	CLIP-seq
MIRT1961602	hsa-miR-520g	CLIP-seq
MIRT1961603	hsa-miR-650	CLIP-seq
MIRT1961604	hsa-miR-676	CLIP-seq
MIRT1961605	hsa-miR-766	CLIP-seq
MIRT1961606	hsa-miR-93	CLIP-seq
MIRT882655	hsa-miR-1193	CLIP-seq
MIRT1961557	hsa-miR-1207-5p	CLIP-seq
MIRT882656	hsa-miR-1224-3p	CLIP-seq
MIRT882658	hsa-miR-1228	CLIP-seq
MIRT1961559	hsa-miR-1266	CLIP-seq
MIRT882659	hsa-miR-1279	CLIP-seq
MIRT1961560	hsa-miR-1291	CLIP-seq
MIRT1961561	hsa-miR-1299	CLIP-seq
MIRT882660	hsa-miR-1343	CLIP-seq
MIRT882662	hsa-miR-192	CLIP-seq
MIRT882665	hsa-miR-215	CLIP-seq
MIRT2198224	hsa-miR-2276	CLIP-seq
MIRT2198225	hsa-miR-2355-3p	CLIP-seq
MIRT882666	hsa-miR-2392	CLIP-seq
MIRT1961567	hsa-miR-2467-5p	CLIP-seq
MIRT1961568	hsa-miR-2964a-5p	CLIP-seq
MIRT882667	hsa-miR-3064-3p	CLIP-seq
MIRT2198226	hsa-miR-3121-5p	CLIP-seq
MIRT882668	hsa-miR-3176	CLIP-seq
MIRT2198227	hsa-miR-320a	CLIP-seq
MIRT2198228	hsa-miR-320b	CLIP-seq
MIRT2198229	hsa-miR-320c	CLIP-seq
MIRT2198230	hsa-miR-320d	CLIP-seq
MIRT1961575	hsa-miR-328	CLIP-seq
MIRT2198231	hsa-miR-330-3p	CLIP-seq
MIRT1961576	hsa-miR-3612	CLIP-seq
MIRT2198232	hsa-miR-3620	CLIP-seq
MIRT2198233	hsa-miR-3689a-3p	CLIP-seq
MIRT2198234	hsa-miR-3689c	CLIP-seq
MIRT882671	hsa-miR-377	CLIP-seq
MIRT1961579	hsa-miR-3918	CLIP-seq
MIRT882672	hsa-miR-3922-3p	CLIP-seq
MIRT1961580	hsa-miR-3925-3p	CLIP-seq
MIRT2198235	hsa-miR-4429	CLIP-seq
MIRT1961582	hsa-miR-4443	CLIP-seq
MIRT1961584	hsa-miR-4518	CLIP-seq
MIRT2198236	hsa-miR-4648	CLIP-seq
MIRT2198237	hsa-miR-4654	CLIP-seq
MIRT1961587	hsa-miR-4685-5p	CLIP-seq
MIRT882680	hsa-miR-4715-3p	CLIP-seq
MIRT2198238	hsa-miR-4728-5p	CLIP-seq
MIRT1961589	hsa-miR-4757-5p	CLIP-seq
MIRT1961590	hsa-miR-4763-3p	CLIP-seq
MIRT2198239	hsa-miR-4769-5p	CLIP-seq
MIRT1961591	hsa-miR-4782-5p	CLIP-seq
MIRT1961592	hsa-miR-486-3p	CLIP-seq
MIRT1961595	hsa-miR-516b	CLIP-seq
MIRT1961602	hsa-miR-520g	CLIP-seq
MIRT882685	hsa-miR-550a	CLIP-seq
MIRT2198240	hsa-miR-552	CLIP-seq
MIRT1961603	hsa-miR-650	CLIP-seq
MIRT1961604	hsa-miR-676	CLIP-seq
MIRT2198241	hsa-miR-764	CLIP-seq
MIRT1961605	hsa-miR-766	CLIP-seq
MIRT2198224	hsa-miR-2276	CLIP-seq
MIRT2446766	hsa-miR-1273f	CLIP-seq
MIRT2446767	hsa-miR-129-5p	CLIP-seq
MIRT2446768	hsa-miR-3149	CLIP-seq
MIRT1961574	hsa-miR-3170	CLIP-seq
MIRT2446769	hsa-miR-411	CLIP-seq
MIRT2446770	hsa-miR-4735-5p	CLIP-seq
MIRT2446771	hsa-miR-4775	CLIP-seq
MIRT2446772	hsa-miR-590-3p	CLIP-seq
MIRT2446773	hsa-miR-941	CLIP-seq
MIRT2446766	hsa-miR-1273f	CLIP-seq
MIRT2446767	hsa-miR-129-5p	CLIP-seq
MIRT2501425	hsa-miR-197	CLIP-seq
MIRT2446768	hsa-miR-3149	CLIP-seq
MIRT1961574	hsa-miR-3170	CLIP-seq
MIRT2446769	hsa-miR-411	CLIP-seq
MIRT2446770	hsa-miR-4735-5p	CLIP-seq
MIRT2446771	hsa-miR-4775	CLIP-seq
MIRT2501426	hsa-miR-5096	CLIP-seq
MIRT2446772	hsa-miR-590-3p	CLIP-seq
MIRT2446773	hsa-miR-941	CLIP-seq
MIRT2446766	hsa-miR-1273f	CLIP-seq
MIRT2446767	hsa-miR-129-5p	CLIP-seq
MIRT2446768	hsa-miR-3149	CLIP-seq
MIRT1961574	hsa-miR-3170	CLIP-seq
MIRT2446769	hsa-miR-411	CLIP-seq
MIRT2446770	hsa-miR-4735-5p	CLIP-seq
MIRT2446771	hsa-miR-4775	CLIP-seq
MIRT2446772	hsa-miR-590-3p	CLIP-seq
MIRT2446773	hsa-miR-941	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000076	Process	DNA replication checkpoint	IBA	21873635
GO:0000076	Process	DNA replication checkpoint	IDA	14672932
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:0000278	Process	Mitotic cell cycle	IBA	21873635
GO:0000278	Process	Mitotic cell cycle	IMP	22581055
GO:0000776	Component	Kinetochore	IDA	22581055
GO:0000777	Component	Condensed chromosome kinetochore	IEA
GO:0003677	Function	DNA binding	IBA	21873635
GO:0003677	Function	DNA binding	ISS
GO:0003682	Function	Chromatin binding	IDA	11125146
GO:0005515	Function	Protein binding	IPI	11125146, 14672932, 14993212, 15232106, 16482215, 17318181, 19906994, 20202939, 20932478, 21543332, 21856198, 22581055, 25990725, 26496610, 26842564, 27107012, 27296872, 28514442
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	11125146, 24217620, 26842564
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0007059	Process	Chromosome segregation	IMP	22581055
GO:0016604	Component	Nuclear body	IDA
GO:0030174	Process	Regulation of DNA-dependent DNA replication initiation	IBA	21873635
GO:0030174	Process	Regulation of DNA-dependent DNA replication initiation	IDA	11125146
GO:0031334	Process	Positive regulation of protein-containing complex assembly	IMP	22581055
GO:0033044	Process	Regulation of chromosome organization	IMP	22581055
GO:0033262	Process	Regulation of nuclear cell cycle DNA replication	IEA
GO:0035563	Process	Positive regulation of chromatin binding	IDA	11125146
GO:0045740	Process	Positive regulation of DNA replication	IMP	26842564
GO:0051301	Process	Cell division	IMP	22581055
GO:0051315	Process	Attachment of mitotic spindle microtubules to kinetochore	IMP	22581055
GO:0051383	Process	Kinetochore organization	IMP	22581055
GO:0070182	Function	DNA polymerase binding	IBA	21873635
GO:0071163	Process	DNA replication preinitiation complex assembly	IBA	21873635
GO:0071163	Process	DNA replication preinitiation complex assembly	IDA	11125146
GO:0072708	Process	Response to sorbitol	IDA	21856198
GO:1902426	Process	Deactivation of mitotic spindle assembly checkpoint	IMP	22581055
GO:1902595	Process	Regulation of DNA replication origin binding	IDA	21856198
GO:1905341	Process	Negative regulation of protein localization to kinetochore	IMP	22581055
GO:1905342	Process	Positive regulation of protein localization to kinetochore	IMP	22581055
GO:2000105	Process	Positive regulation of DNA-dependent DNA replication	IDA	11125146

Other IDs

• MIM: 605525
• HGNC: 24576
• e!Ensembl: ENSG00000167513

Protein

• UniProt ID: Q9H211
• Protein name: DNA replication factor Cdt1 (Double parked homolog) (DUP)
• Protein function: Required for both DNA replication and mitosis (PubMed:11125146, PubMed:14993212, PubMed:21856198, PubMed:22581055, PubMed:26842564). DNA replication licensing factor, required for pre-replication complex assembly. Cooperates with CDC6 and the or
• PDB: 2LE8, 2WVR, 6QCG, 8RWV, 8S0E, 8S0F
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08839	CDT1	186 → 349	DNA replication factor CDT1 like	Domain
  PF16679	CDT1_C	421 → 516	DNA replication factor Cdt1 C-terminal domain	Domain

• Sequence:

  MEQRRVTDFFARRRPGPPRIAPPKLACRTPSPARPALRAPASATSGSRKRARPPAAPGRD
  QARPPARRRLRLSVDEVSSPSTPEAPDIPACPSPGQKIKKSTPAAGQPPHLTSAQDQDTI
  SELASCLQRARELGARVRALKASAQDAGESCTPEAEGRPEEPCGEKAPAYQRFHALAQPG
  LPGLVLPYKYQVLAEMFRSMDTIVGMLHNRSETPTFAKVQRGVQDMMRRRFEECNVGQIK
  TVYPASYRFRQERSVPTFKDGTRRSDYQLTIEPLLEQEADGAAPQLTASRLLQRRQIFSQ
  KLVEHVKEHHKAFLASLSPAMVVPEDQLTRWHPRFNVDEVPDIEPAALPQPPATEKLTTA
  QEVLARARNLISPRMEKALSQLALRSAAPSSPGSPRPALPATPPATPPAASPSALKGVSQ
  DLLERIRAKEAQKQLAQMTRCPEQEQRLQRLERLPELARVLRSVFVSERKPALSMEVACA
  RMVGSCCTIMSPGEMEKHLLLLSELLPDWLSLHRIRTDTYVKLDKAADLAHITARLAHQT
  RAEEGL

• Sequence length: 546

Pathways

KEGG:

Cell cycle

Reactome:

CDT1 association with the CDC6:ORC:origin complex
Assembly of the pre-replicative complex
Orc1 removal from chromatin
Activation of the pre-replicative complex
G1/S-Specific Transcription

Associated diseases

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 4	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, 15286659, 21358631
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	21358632
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	21358632

Unknown
Disease name	Disease term	dbSNP ID	References
Camptodactyly of fingers	Clinodactyly of the 5th finger
Breast aplasia	Congenital absence of breast
Anotia	Congenital absence of external ear
Mandibular aplasia	Congenital absence of mandible
Congenital genu recurvatum	Congenital genu recurvatum
Breast hypoplasia	Congenital hypoplasia of breast
Congenital hypoplasia of penis	Congenital hypoplasia of penis
Dwarfism	Dwarfism
Ear diseases	EAR, PATELLA, SHORT STATURE SYNDROME		21358632, 23516378, 23023959, 22333897
Ear-patella-short stature syndrome	Ear-patella-short stature syndrome
Epispadias	Epispadias
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		15286659
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