CDK2AP1 (cyclin dependent kinase 2 associated protein 1)

Gene

• Entrez ID: 8099
• Gene name: Cyclin dependent kinase 2 associated protein 1
• Gene symbol: CDK2AP1
• Synonyms (NCBI Gene): DOC1, DORC1, ST19, doc-1, p12DOC-1
• Chromosome: 12
• Chromosome location: 12q24.31
• Summary: The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact wi

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005974	hsa-miR-21-5p	Luciferase reporter assay, qRT-PCR, Western blot	21328460
MIRT005974	hsa-miR-21-5p	Luciferase reporter assay, qRT-PCR, Western blot	21328460
MIRT005974	hsa-miR-21-5p	Reporter assay	21328460
MIRT040895	hsa-miR-18a-3p	CLASH	23622248
MIRT880975	hsa-miR-1253	CLIP-seq
MIRT880976	hsa-miR-1258	CLIP-seq
MIRT880977	hsa-miR-1285	CLIP-seq
MIRT880978	hsa-miR-1292	CLIP-seq
MIRT880979	hsa-miR-1297	CLIP-seq
MIRT880980	hsa-miR-139-5p	CLIP-seq
MIRT880981	hsa-miR-183	CLIP-seq
MIRT880982	hsa-miR-1973	CLIP-seq
MIRT880983	hsa-miR-2053	CLIP-seq
MIRT880984	hsa-miR-21	CLIP-seq
MIRT880985	hsa-miR-26a	CLIP-seq
MIRT880986	hsa-miR-26b	CLIP-seq
MIRT880987	hsa-miR-297	CLIP-seq
MIRT880988	hsa-miR-300	CLIP-seq
MIRT880989	hsa-miR-3133	CLIP-seq
MIRT880990	hsa-miR-3149	CLIP-seq
MIRT880991	hsa-miR-3162-3p	CLIP-seq
MIRT880992	hsa-miR-3180-5p	CLIP-seq
MIRT880993	hsa-miR-3182	CLIP-seq
MIRT880994	hsa-miR-3187-5p	CLIP-seq
MIRT880995	hsa-miR-323-3p	CLIP-seq
MIRT880996	hsa-miR-338-5p	CLIP-seq
MIRT880997	hsa-miR-3591-3p	CLIP-seq
MIRT880998	hsa-miR-3612	CLIP-seq
MIRT880999	hsa-miR-3613-3p	CLIP-seq
MIRT881000	hsa-miR-3647-3p	CLIP-seq
MIRT881001	hsa-miR-3662	CLIP-seq
MIRT881002	hsa-miR-3686	CLIP-seq
MIRT881003	hsa-miR-381	CLIP-seq
MIRT881004	hsa-miR-3940-5p	CLIP-seq
MIRT881005	hsa-miR-4255	CLIP-seq
MIRT881006	hsa-miR-4307	CLIP-seq
MIRT881007	hsa-miR-431	CLIP-seq
MIRT881008	hsa-miR-4311	CLIP-seq
MIRT881009	hsa-miR-432	CLIP-seq
MIRT881010	hsa-miR-4328	CLIP-seq
MIRT881011	hsa-miR-4443	CLIP-seq
MIRT881012	hsa-miR-4464	CLIP-seq
MIRT881013	hsa-miR-4465	CLIP-seq
MIRT881014	hsa-miR-4470	CLIP-seq
MIRT881015	hsa-miR-4471	CLIP-seq
MIRT881016	hsa-miR-4503	CLIP-seq
MIRT881017	hsa-miR-4507	CLIP-seq
MIRT881018	hsa-miR-4659a-3p	CLIP-seq
MIRT881019	hsa-miR-4659b-3p	CLIP-seq
MIRT881020	hsa-miR-4662a-3p	CLIP-seq
MIRT881021	hsa-miR-4666-3p	CLIP-seq
MIRT881022	hsa-miR-4668-3p	CLIP-seq
MIRT881023	hsa-miR-4670-3p	CLIP-seq
MIRT881024	hsa-miR-4699-5p	CLIP-seq
MIRT881025	hsa-miR-4711-3p	CLIP-seq
MIRT881026	hsa-miR-4742-3p	CLIP-seq
MIRT881027	hsa-miR-4748	CLIP-seq
MIRT881028	hsa-miR-4787-5p	CLIP-seq
MIRT881029	hsa-miR-490-3p	CLIP-seq
MIRT881030	hsa-miR-495	CLIP-seq
MIRT881031	hsa-miR-499-3p	CLIP-seq
MIRT881032	hsa-miR-499a-3p	CLIP-seq
MIRT881033	hsa-miR-517b	CLIP-seq
MIRT881034	hsa-miR-518a-3p	CLIP-seq
MIRT881035	hsa-miR-518b	CLIP-seq
MIRT881036	hsa-miR-518c	CLIP-seq
MIRT881037	hsa-miR-518d-3p	CLIP-seq
MIRT881038	hsa-miR-518f	CLIP-seq
MIRT881039	hsa-miR-520a-5p	CLIP-seq
MIRT881040	hsa-miR-520d-5p	CLIP-seq
MIRT881041	hsa-miR-524-5p	CLIP-seq
MIRT881042	hsa-miR-525-5p	CLIP-seq
MIRT881043	hsa-miR-541	CLIP-seq
MIRT881044	hsa-miR-548ac	CLIP-seq
MIRT881045	hsa-miR-548c-3p	CLIP-seq
MIRT881046	hsa-miR-548d-3p	CLIP-seq
MIRT881047	hsa-miR-548o	CLIP-seq
MIRT881048	hsa-miR-548z	CLIP-seq
MIRT881049	hsa-miR-555	CLIP-seq
MIRT881050	hsa-miR-556-3p	CLIP-seq
MIRT881051	hsa-miR-569	CLIP-seq
MIRT881052	hsa-miR-582-5p	CLIP-seq
MIRT881053	hsa-miR-590-5p	CLIP-seq
MIRT881054	hsa-miR-600	CLIP-seq
MIRT881055	hsa-miR-605	CLIP-seq
MIRT881056	hsa-miR-606	CLIP-seq
MIRT881057	hsa-miR-612	CLIP-seq
MIRT881058	hsa-miR-615-5p	CLIP-seq
MIRT881059	hsa-miR-650	CLIP-seq
MIRT881060	hsa-miR-654-5p	CLIP-seq
MIRT880978	hsa-miR-1292	CLIP-seq
MIRT881014	hsa-miR-4470	CLIP-seq
MIRT881015	hsa-miR-4471	CLIP-seq
MIRT880976	hsa-miR-1258	CLIP-seq
MIRT1960983	hsa-miR-127-5p	CLIP-seq
MIRT880978	hsa-miR-1292	CLIP-seq
MIRT880980	hsa-miR-139-5p	CLIP-seq
MIRT880981	hsa-miR-183	CLIP-seq
MIRT880982	hsa-miR-1973	CLIP-seq
MIRT1960984	hsa-miR-205	CLIP-seq
MIRT880984	hsa-miR-21	CLIP-seq
MIRT880987	hsa-miR-297	CLIP-seq
MIRT880988	hsa-miR-300	CLIP-seq
MIRT880989	hsa-miR-3133	CLIP-seq
MIRT880990	hsa-miR-3149	CLIP-seq
MIRT880991	hsa-miR-3162-3p	CLIP-seq
MIRT880993	hsa-miR-3182	CLIP-seq
MIRT880997	hsa-miR-3591-3p	CLIP-seq
MIRT880998	hsa-miR-3612	CLIP-seq
MIRT880999	hsa-miR-3613-3p	CLIP-seq
MIRT881002	hsa-miR-3686	CLIP-seq
MIRT881003	hsa-miR-381	CLIP-seq
MIRT881005	hsa-miR-4255	CLIP-seq
MIRT881007	hsa-miR-431	CLIP-seq
MIRT881009	hsa-miR-432	CLIP-seq
MIRT881011	hsa-miR-4443	CLIP-seq
MIRT881012	hsa-miR-4464	CLIP-seq
MIRT881014	hsa-miR-4470	CLIP-seq
MIRT881015	hsa-miR-4471	CLIP-seq
MIRT881016	hsa-miR-4503	CLIP-seq
MIRT881018	hsa-miR-4659a-3p	CLIP-seq
MIRT881019	hsa-miR-4659b-3p	CLIP-seq
MIRT881020	hsa-miR-4662a-3p	CLIP-seq
MIRT881021	hsa-miR-4666-3p	CLIP-seq
MIRT881022	hsa-miR-4668-3p	CLIP-seq
MIRT881025	hsa-miR-4711-3p	CLIP-seq
MIRT1960985	hsa-miR-4718	CLIP-seq
MIRT1960986	hsa-miR-4720-3p	CLIP-seq
MIRT1960987	hsa-miR-4738-3p	CLIP-seq
MIRT881026	hsa-miR-4742-3p	CLIP-seq
MIRT881027	hsa-miR-4748	CLIP-seq
MIRT881028	hsa-miR-4787-5p	CLIP-seq
MIRT1960988	hsa-miR-4804-3p	CLIP-seq
MIRT881030	hsa-miR-495	CLIP-seq
MIRT1960989	hsa-miR-500a	CLIP-seq
MIRT881033	hsa-miR-517b	CLIP-seq
MIRT881034	hsa-miR-518a-3p	CLIP-seq
MIRT881035	hsa-miR-518b	CLIP-seq
MIRT881036	hsa-miR-518c	CLIP-seq
MIRT881037	hsa-miR-518d-3p	CLIP-seq
MIRT881038	hsa-miR-518f	CLIP-seq
MIRT1960990	hsa-miR-548aa	CLIP-seq
MIRT881045	hsa-miR-548c-3p	CLIP-seq
MIRT1960991	hsa-miR-548g	CLIP-seq
MIRT881047	hsa-miR-548o	CLIP-seq
MIRT1960992	hsa-miR-548p	CLIP-seq
MIRT881049	hsa-miR-555	CLIP-seq
MIRT881052	hsa-miR-582-5p	CLIP-seq
MIRT881053	hsa-miR-590-5p	CLIP-seq
MIRT881054	hsa-miR-600	CLIP-seq
MIRT881055	hsa-miR-605	CLIP-seq
MIRT881058	hsa-miR-615-5p	CLIP-seq
MIRT1960993	hsa-miR-633	CLIP-seq
MIRT1960994	hsa-miR-643	CLIP-seq
MIRT881059	hsa-miR-650	CLIP-seq
MIRT880976	hsa-miR-1258	CLIP-seq
MIRT1960983	hsa-miR-127-5p	CLIP-seq
MIRT880978	hsa-miR-1292	CLIP-seq
MIRT880980	hsa-miR-139-5p	CLIP-seq
MIRT880981	hsa-miR-183	CLIP-seq
MIRT880982	hsa-miR-1973	CLIP-seq
MIRT880984	hsa-miR-21	CLIP-seq
MIRT880987	hsa-miR-297	CLIP-seq
MIRT880988	hsa-miR-300	CLIP-seq
MIRT880989	hsa-miR-3133	CLIP-seq
MIRT880990	hsa-miR-3149	CLIP-seq
MIRT880991	hsa-miR-3162-3p	CLIP-seq
MIRT880992	hsa-miR-3180-5p	CLIP-seq
MIRT880995	hsa-miR-323-3p	CLIP-seq
MIRT880997	hsa-miR-3591-3p	CLIP-seq
MIRT880999	hsa-miR-3613-3p	CLIP-seq
MIRT881003	hsa-miR-381	CLIP-seq
MIRT881004	hsa-miR-3940-5p	CLIP-seq
MIRT881005	hsa-miR-4255	CLIP-seq
MIRT881006	hsa-miR-4307	CLIP-seq
MIRT881008	hsa-miR-4311	CLIP-seq
MIRT881010	hsa-miR-4328	CLIP-seq
MIRT881012	hsa-miR-4464	CLIP-seq
MIRT881014	hsa-miR-4470	CLIP-seq
MIRT881015	hsa-miR-4471	CLIP-seq
MIRT881016	hsa-miR-4503	CLIP-seq
MIRT881017	hsa-miR-4507	CLIP-seq
MIRT881018	hsa-miR-4659a-3p	CLIP-seq
MIRT881019	hsa-miR-4659b-3p	CLIP-seq
MIRT881020	hsa-miR-4662a-3p	CLIP-seq
MIRT881021	hsa-miR-4666-3p	CLIP-seq
MIRT881022	hsa-miR-4668-3p	CLIP-seq
MIRT881023	hsa-miR-4670-3p	CLIP-seq
MIRT1960985	hsa-miR-4718	CLIP-seq
MIRT1960986	hsa-miR-4720-3p	CLIP-seq
MIRT881027	hsa-miR-4748	CLIP-seq
MIRT881028	hsa-miR-4787-5p	CLIP-seq
MIRT1960988	hsa-miR-4804-3p	CLIP-seq
MIRT881030	hsa-miR-495	CLIP-seq
MIRT881033	hsa-miR-517b	CLIP-seq
MIRT881034	hsa-miR-518a-3p	CLIP-seq
MIRT881035	hsa-miR-518b	CLIP-seq
MIRT881036	hsa-miR-518c	CLIP-seq
MIRT881037	hsa-miR-518d-3p	CLIP-seq
MIRT881038	hsa-miR-518f	CLIP-seq
MIRT881039	hsa-miR-520a-5p	CLIP-seq
MIRT881042	hsa-miR-525-5p	CLIP-seq
MIRT881043	hsa-miR-541	CLIP-seq
MIRT881047	hsa-miR-548o	CLIP-seq
MIRT1960992	hsa-miR-548p	CLIP-seq
MIRT881049	hsa-miR-555	CLIP-seq
MIRT881052	hsa-miR-582-5p	CLIP-seq
MIRT881053	hsa-miR-590-5p	CLIP-seq
MIRT881054	hsa-miR-600	CLIP-seq
MIRT881055	hsa-miR-605	CLIP-seq
MIRT881058	hsa-miR-615-5p	CLIP-seq
MIRT1960993	hsa-miR-633	CLIP-seq
MIRT881060	hsa-miR-654-5p	CLIP-seq
MIRT880978	hsa-miR-1292	CLIP-seq
MIRT880980	hsa-miR-139-5p	CLIP-seq
MIRT880981	hsa-miR-183	CLIP-seq
MIRT880987	hsa-miR-297	CLIP-seq
MIRT880990	hsa-miR-3149	CLIP-seq
MIRT880995	hsa-miR-323-3p	CLIP-seq
MIRT881014	hsa-miR-4470	CLIP-seq
MIRT881015	hsa-miR-4471	CLIP-seq
MIRT881016	hsa-miR-4503	CLIP-seq
MIRT881023	hsa-miR-4670-3p	CLIP-seq
MIRT881052	hsa-miR-582-5p	CLIP-seq
MIRT881054	hsa-miR-600	CLIP-seq
MIRT880993	hsa-miR-3182	CLIP-seq
MIRT881002	hsa-miR-3686	CLIP-seq
MIRT881004	hsa-miR-3940-5p	CLIP-seq
MIRT881017	hsa-miR-4507	CLIP-seq
MIRT881018	hsa-miR-4659a-3p	CLIP-seq
MIRT881019	hsa-miR-4659b-3p	CLIP-seq
MIRT881026	hsa-miR-4742-3p	CLIP-seq
MIRT881043	hsa-miR-541	CLIP-seq
MIRT881052	hsa-miR-582-5p	CLIP-seq
MIRT881060	hsa-miR-654-5p	CLIP-seq
MIRT2501024	hsa-miR-105	CLIP-seq
MIRT2501025	hsa-miR-1183	CLIP-seq
MIRT880976	hsa-miR-1258	CLIP-seq
MIRT1960983	hsa-miR-127-5p	CLIP-seq
MIRT2501026	hsa-miR-143	CLIP-seq
MIRT1960984	hsa-miR-205	CLIP-seq
MIRT2501027	hsa-miR-3175	CLIP-seq
MIRT880993	hsa-miR-3182	CLIP-seq
MIRT2501028	hsa-miR-3672	CLIP-seq
MIRT881002	hsa-miR-3686	CLIP-seq
MIRT2501029	hsa-miR-3688-3p	CLIP-seq
MIRT881004	hsa-miR-3940-5p	CLIP-seq
MIRT881005	hsa-miR-4255	CLIP-seq
MIRT2501030	hsa-miR-4426	CLIP-seq
MIRT881012	hsa-miR-4464	CLIP-seq
MIRT2501031	hsa-miR-4480	CLIP-seq
MIRT881016	hsa-miR-4503	CLIP-seq
MIRT881017	hsa-miR-4507	CLIP-seq
MIRT2501032	hsa-miR-4539	CLIP-seq
MIRT2501033	hsa-miR-4647	CLIP-seq
MIRT881018	hsa-miR-4659a-3p	CLIP-seq
MIRT881019	hsa-miR-4659b-3p	CLIP-seq
MIRT2501034	hsa-miR-4662b	CLIP-seq
MIRT1960986	hsa-miR-4720-3p	CLIP-seq
MIRT881026	hsa-miR-4742-3p	CLIP-seq
MIRT881027	hsa-miR-4748	CLIP-seq
MIRT2501035	hsa-miR-4770	CLIP-seq
MIRT881028	hsa-miR-4787-5p	CLIP-seq
MIRT1960988	hsa-miR-4804-3p	CLIP-seq
MIRT1960989	hsa-miR-500a	CLIP-seq
MIRT881043	hsa-miR-541	CLIP-seq
MIRT881045	hsa-miR-548c-3p	CLIP-seq
MIRT881047	hsa-miR-548o	CLIP-seq
MIRT1960992	hsa-miR-548p	CLIP-seq
MIRT2501036	hsa-miR-570	CLIP-seq
MIRT881052	hsa-miR-582-5p	CLIP-seq
MIRT881058	hsa-miR-615-5p	CLIP-seq
MIRT1960993	hsa-miR-633	CLIP-seq
MIRT1960994	hsa-miR-643	CLIP-seq
MIRT881060	hsa-miR-654-5p	CLIP-seq
MIRT2501024	hsa-miR-105	CLIP-seq
MIRT880976	hsa-miR-1258	CLIP-seq
MIRT1960983	hsa-miR-127-5p	CLIP-seq
MIRT1960984	hsa-miR-205	CLIP-seq
MIRT880993	hsa-miR-3182	CLIP-seq
MIRT880999	hsa-miR-3613-3p	CLIP-seq
MIRT881002	hsa-miR-3686	CLIP-seq
MIRT2501029	hsa-miR-3688-3p	CLIP-seq
MIRT881004	hsa-miR-3940-5p	CLIP-seq
MIRT881005	hsa-miR-4255	CLIP-seq
MIRT2501030	hsa-miR-4426	CLIP-seq
MIRT881012	hsa-miR-4464	CLIP-seq
MIRT881016	hsa-miR-4503	CLIP-seq
MIRT881017	hsa-miR-4507	CLIP-seq
MIRT2501032	hsa-miR-4539	CLIP-seq
MIRT2501033	hsa-miR-4647	CLIP-seq
MIRT881018	hsa-miR-4659a-3p	CLIP-seq
MIRT881019	hsa-miR-4659b-3p	CLIP-seq
MIRT2501034	hsa-miR-4662b	CLIP-seq
MIRT1960986	hsa-miR-4720-3p	CLIP-seq
MIRT881026	hsa-miR-4742-3p	CLIP-seq
MIRT881027	hsa-miR-4748	CLIP-seq
MIRT881028	hsa-miR-4787-5p	CLIP-seq
MIRT1960988	hsa-miR-4804-3p	CLIP-seq
MIRT1960989	hsa-miR-500a	CLIP-seq
MIRT881043	hsa-miR-541	CLIP-seq
MIRT1960990	hsa-miR-548aa	CLIP-seq
MIRT881045	hsa-miR-548c-3p	CLIP-seq
MIRT881047	hsa-miR-548o	CLIP-seq
MIRT2501036	hsa-miR-570	CLIP-seq
MIRT881052	hsa-miR-582-5p	CLIP-seq
MIRT881058	hsa-miR-615-5p	CLIP-seq
MIRT1960993	hsa-miR-633	CLIP-seq
MIRT1960994	hsa-miR-643	CLIP-seq
MIRT881060	hsa-miR-654-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	9506968
GO:0005515	Function	Protein binding	IPI	14985111, 21516116, 24248101, 25416956, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	9506968
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006261	Process	DNA-dependent DNA replication	NAS	9506968
GO:0007049	Process	Cell cycle	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	9506968
GO:0070182	Function	DNA polymerase binding	IPI	9506968

Other IDs

• MIM: 602198
• HGNC: 14002
• e!Ensembl: ENSG00000111328

Protein

• UniProt ID: O14519
• Protein name: Cyclin-dependent kinase 2-associated protein 1 (CDK2-associated protein 1) (Deleted in oral cancer 1) (DOC-1) (Putative oral cancer suppressor)
• Protein function: Inhibitor of cyclin-dependent kinase CDK2 (By similarity). Also acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:20523938, PubMed:28977666). {ECO:0000250|UniPr
• PDB: 2KW6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09806	CDK2AP	3 → 114	Cyclin-dependent kinase 2-associated protein	Family

• Sequence:

  MSYKPNLAAHMPAAALNAAGSVHSPSTSMATSSQYRQLLSDYGPPSLGYTQGTGNSQVPQ
  SKYAELLAIIEELGKEIRPTYAGSKSAMERLKRGIIHARGLVRECLAETERNARS

• Sequence length: 115

Pathways

KEGG:

ATP-dependent chromatin remodeling

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Combined oxidative phosphorylation deficiency	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7	rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517, rs397514613, rs397514614, rs200286768, rs397515463, rs397515464, rs397515465, rs397515466, rs587777218, rs587777244, rs587777417, rs587777418, rs587777419, rs587777583, rs587777584, rs587777585, rs587777589, rs587777591, rs587777593, rs587777594, rs115079861, rs587777788, rs144972972, rs606231472, rs869320746, rs886037734, rs730880255, rs886037735, rs886037736, rs730882154, rs730882155, rs794726869, rs114638163, rs143712760, rs780383722, rs200105202, rs1554169353, rs751459058, rs775690041, rs863224897, rs863225449, rs869025313, rs869025314, rs869025315, rs781798317, rs754022333, rs869320703, rs869320704, rs771894262, rs764427452, rs879255657, rs778100619, rs759477396, rs1057518742, rs1057518743, rs1057517685, rs1057519299, rs1057523346, rs1057524183, rs1060502161, rs184469579, rs1064794140, rs755122704, rs1064797230, rs202183509, rs1131691396, rs1131692037, rs1161932777, rs144042123, rs777725264, rs563189672, rs763672163, rs746538436, rs1554042187, rs767427194, rs1555532483, rs1394499137, rs1555532484, rs763658299, rs763770476, rs199863563, rs148620369, rs1554147776, rs761385155, rs1555575927, rs1555576642, rs1554169280, rs1407198979, rs1274363168, rs1555726849, rs770871640, rs1555404423, rs924099073, rs775439829, rs1554268077, rs1308121771, rs1047420796, rs1322974029, rs751069628, rs368934219, rs761709212, rs1555342802, rs761334309, rs1554116357, rs536000212, rs565910322, rs376766195, rs1562168768, rs763443331, rs1370579526, rs755068980, rs1567773277, rs761097220, rs780533096, rs746356243, rs1559114055, rs752550279, rs1559094461, rs146988468, rs1561990552, rs1298860043, rs746746116, rs1568293849, rs1559359546, rs1561938413, rs565224393, rs1565216037, rs1035101172, rs1565235204, rs763770414, rs764714439, rs777185638, rs1169927428, rs1229314240, rs1429774361, rs374954001, rs1599560256, rs1582724664, rs1574663066, rs778120270, rs1574675683, rs1365308037, rs1582970514, rs777028011, rs1582957532, rs1170907347, rs773688171, rs1777047446, rs947204455, rs1049082567, rs754537066, rs758094541, rs1689552727, rs2077262520, rs748779965, rs1785349774	20598281, 24284555, 27858754
Epileptic encephalopathy	Epileptic encephalopathy	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Spastic paraplegia	Spastic Paraplegia, SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464	20598281

Unknown
Disease term	Disease name	Evidence	References	Source
Diabetes	Diabetes			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Uterine Fibroids	Uterine Fibroids			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Inhibit	30343278
Carcinoma Squamous Cell	Inhibit	20541561
Mouth Neoplasms	Inhibit	37217493
Muscular Atrophy Spinal	Associate	23299920
Neoplasm Metastasis	Inhibit	20541561
Neoplasms	Inhibit	16428440, 20541561, 25785833, 36362115, 37217493
Prostatic Neoplasms	Associate	25785833, 36362115, 36613831
Squamous Cell Carcinoma of Head and Neck	Associate	17217620, 26515287
Squamous Cell Carcinoma of Head and Neck	Inhibit	25785833, 28683324, 37217493
Stomach Neoplasms	Inhibit	25785833