RFC2 (replication factor C subunit 2)

Gene

• Entrez ID: 5982
• Gene name: Replication factor C subunit 2
• Gene symbol: RFC2
• Synonyms (NCBI Gene): RFC40
• Chromosome: 7
• Chromosome location: 7q11.23
• Summary: This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023820	hsa-miR-1-3p	Proteomics	18668040
MIRT048154	hsa-miR-196a-5p	CLASH	23622248
MIRT045679	hsa-miR-149-5p	CLASH	23622248
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT629587	hsa-miR-767-5p	HITS-CLIP	19536157
MIRT629583	hsa-miR-593-5p	HITS-CLIP	19536157
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT629587	hsa-miR-767-5p	HITS-CLIP	19536157
MIRT629583	hsa-miR-593-5p	HITS-CLIP	19536157
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT629597	hsa-miR-5197-5p	HITS-CLIP	19536157
MIRT629589	hsa-miR-183-5p	HITS-CLIP	19536157
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT629587	hsa-miR-767-5p	HITS-CLIP	19536157
MIRT629583	hsa-miR-593-5p	HITS-CLIP	19536157
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT629587	hsa-miR-767-5p	HITS-CLIP	19536157
MIRT629583	hsa-miR-593-5p	HITS-CLIP	19536157
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT681296	hsa-miR-512-5p	HITS-CLIP	23706177
MIRT681295	hsa-miR-510-5p	HITS-CLIP	23706177
MIRT681294	hsa-miR-4695-5p	HITS-CLIP	23706177
MIRT681293	hsa-miR-4779	HITS-CLIP	23706177
MIRT681292	hsa-miR-3929	HITS-CLIP	23706177
MIRT681291	hsa-miR-4419b	HITS-CLIP	23706177
MIRT681290	hsa-miR-4478	HITS-CLIP	23706177
MIRT681289	hsa-miR-3614-5p	HITS-CLIP	23706177
MIRT681288	hsa-miR-6500-3p	HITS-CLIP	23706177
MIRT681287	hsa-miR-4768-3p	HITS-CLIP	23706177
MIRT681286	hsa-miR-4459	HITS-CLIP	23706177
MIRT681285	hsa-miR-4433a-3p	HITS-CLIP	23706177
MIRT681284	hsa-miR-3664-3p	HITS-CLIP	23706177
MIRT681283	hsa-miR-7162-3p	HITS-CLIP	23706177
MIRT681282	hsa-miR-1225-3p	HITS-CLIP	23706177
MIRT681281	hsa-miR-1233-3p	HITS-CLIP	23706177
MIRT681280	hsa-miR-3975	HITS-CLIP	23706177
MIRT681279	hsa-miR-2467-5p	HITS-CLIP	23706177
MIRT681278	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT681277	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT681276	hsa-miR-3188	HITS-CLIP	23706177
MIRT681275	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT681274	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT681273	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT681272	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT681271	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT681270	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT681269	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT681268	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT681267	hsa-miR-4458	HITS-CLIP	23706177
MIRT681266	hsa-miR-4500	HITS-CLIP	23706177
MIRT681265	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT681264	hsa-miR-202-3p	HITS-CLIP	23706177
MIRT681263	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT681262	hsa-miR-6086	HITS-CLIP	23706177
MIRT681261	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT681260	hsa-miR-6894-5p	HITS-CLIP	23706177
MIRT681259	hsa-miR-4266	HITS-CLIP	23706177
MIRT681258	hsa-miR-6807-5p	HITS-CLIP	23706177
MIRT681257	hsa-miR-6765-5p	HITS-CLIP	23706177
MIRT681256	hsa-miR-1304-5p	HITS-CLIP	23706177
MIRT681255	hsa-miR-1273g-5p	HITS-CLIP	23706177
MIRT681254	hsa-miR-665	HITS-CLIP	23706177
MIRT629597	hsa-miR-5197-5p	HITS-CLIP	23824327
MIRT629596	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT629595	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT629594	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT629593	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT629592	hsa-miR-3666	HITS-CLIP	23824327
MIRT629591	hsa-miR-4295	HITS-CLIP	23824327
MIRT629590	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT629589	hsa-miR-183-5p	HITS-CLIP	23824327
MIRT629587	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT629584	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT629583	hsa-miR-593-5p	HITS-CLIP	23824327
MIRT629582	hsa-miR-3652	HITS-CLIP	23824327
MIRT629581	hsa-miR-4430	HITS-CLIP	23824327
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT629597	hsa-miR-5197-5p	HITS-CLIP	23824327
MIRT629596	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT629595	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT629594	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT629593	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT629592	hsa-miR-3666	HITS-CLIP	23824327
MIRT629591	hsa-miR-4295	HITS-CLIP	23824327
MIRT629590	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT629589	hsa-miR-183-5p	HITS-CLIP	23824327
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT629587	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT629586	hsa-miR-3135b	HITS-CLIP	23824327
MIRT629585	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT629584	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT629583	hsa-miR-593-5p	HITS-CLIP	23824327
MIRT629582	hsa-miR-3652	HITS-CLIP	23824327
MIRT629581	hsa-miR-4430	HITS-CLIP	23824327
MIRT629580	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT629587	hsa-miR-767-5p	HITS-CLIP	19536157
MIRT629583	hsa-miR-593-5p	HITS-CLIP	19536157
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT629587	hsa-miR-767-5p	HITS-CLIP	19536157
MIRT629583	hsa-miR-593-5p	HITS-CLIP	19536157
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT629597	hsa-miR-5197-5p	HITS-CLIP	19536157
MIRT629589	hsa-miR-183-5p	HITS-CLIP	19536157
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT629587	hsa-miR-767-5p	HITS-CLIP	19536157
MIRT629583	hsa-miR-593-5p	HITS-CLIP	19536157
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT629587	hsa-miR-767-5p	HITS-CLIP	19536157
MIRT629583	hsa-miR-593-5p	HITS-CLIP	19536157
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT681296	hsa-miR-512-5p	HITS-CLIP	23706177
MIRT681295	hsa-miR-510-5p	HITS-CLIP	23706177
MIRT681294	hsa-miR-4695-5p	HITS-CLIP	23706177
MIRT681293	hsa-miR-4779	HITS-CLIP	23706177
MIRT681292	hsa-miR-3929	HITS-CLIP	23706177
MIRT681291	hsa-miR-4419b	HITS-CLIP	23706177
MIRT681290	hsa-miR-4478	HITS-CLIP	23706177
MIRT681289	hsa-miR-3614-5p	HITS-CLIP	23706177
MIRT681288	hsa-miR-6500-3p	HITS-CLIP	23706177
MIRT681287	hsa-miR-4768-3p	HITS-CLIP	23706177
MIRT681286	hsa-miR-4459	HITS-CLIP	23706177
MIRT681285	hsa-miR-4433a-3p	HITS-CLIP	23706177
MIRT681284	hsa-miR-3664-3p	HITS-CLIP	23706177
MIRT681283	hsa-miR-7162-3p	HITS-CLIP	23706177
MIRT681282	hsa-miR-1225-3p	HITS-CLIP	23706177
MIRT681281	hsa-miR-1233-3p	HITS-CLIP	23706177
MIRT681280	hsa-miR-3975	HITS-CLIP	23706177
MIRT681279	hsa-miR-2467-5p	HITS-CLIP	23706177
MIRT681278	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT681277	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT681276	hsa-miR-3188	HITS-CLIP	23706177
MIRT681275	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT681274	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT681273	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT681272	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT681271	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT681270	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT681269	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT681268	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT681267	hsa-miR-4458	HITS-CLIP	23706177
MIRT681266	hsa-miR-4500	HITS-CLIP	23706177
MIRT681265	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT681264	hsa-miR-202-3p	HITS-CLIP	23706177
MIRT681263	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT681262	hsa-miR-6086	HITS-CLIP	23706177
MIRT681261	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT681260	hsa-miR-6894-5p	HITS-CLIP	23706177
MIRT681259	hsa-miR-4266	HITS-CLIP	23706177
MIRT681258	hsa-miR-6807-5p	HITS-CLIP	23706177
MIRT681257	hsa-miR-6765-5p	HITS-CLIP	23706177
MIRT681256	hsa-miR-1304-5p	HITS-CLIP	23706177
MIRT681255	hsa-miR-1273g-5p	HITS-CLIP	23706177
MIRT681254	hsa-miR-665	HITS-CLIP	23706177
MIRT629597	hsa-miR-5197-5p	HITS-CLIP	23824327
MIRT629596	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT629595	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT629594	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT629593	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT629592	hsa-miR-3666	HITS-CLIP	23824327
MIRT629591	hsa-miR-4295	HITS-CLIP	23824327
MIRT629590	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT629589	hsa-miR-183-5p	HITS-CLIP	23824327
MIRT629587	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT629584	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT629583	hsa-miR-593-5p	HITS-CLIP	23824327
MIRT629582	hsa-miR-3652	HITS-CLIP	23824327
MIRT629581	hsa-miR-4430	HITS-CLIP	23824327
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT629597	hsa-miR-5197-5p	HITS-CLIP	23824327
MIRT629596	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT629595	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT629594	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT629593	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT629592	hsa-miR-3666	HITS-CLIP	23824327
MIRT629591	hsa-miR-4295	HITS-CLIP	23824327
MIRT629590	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT629589	hsa-miR-183-5p	HITS-CLIP	23824327
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT629587	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT629586	hsa-miR-3135b	HITS-CLIP	23824327
MIRT629585	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT629584	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT629583	hsa-miR-593-5p	HITS-CLIP	23824327
MIRT629582	hsa-miR-3652	HITS-CLIP	23824327
MIRT629581	hsa-miR-4430	HITS-CLIP	23824327
MIRT629580	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT1301523	hsa-miR-224	CLIP-seq
MIRT1301524	hsa-miR-4775	CLIP-seq
MIRT1301525	hsa-miR-590-3p	CLIP-seq
MIRT1301526	hsa-miR-1254	CLIP-seq
MIRT1301527	hsa-miR-1343	CLIP-seq
MIRT1301528	hsa-miR-141	CLIP-seq
MIRT1301529	hsa-miR-200a	CLIP-seq
MIRT1301530	hsa-miR-2276	CLIP-seq
MIRT1301531	hsa-miR-2355-5p	CLIP-seq
MIRT1301532	hsa-miR-24	CLIP-seq
MIRT1301533	hsa-miR-3065-5p	CLIP-seq
MIRT1301534	hsa-miR-3116	CLIP-seq
MIRT1301535	hsa-miR-3194-5p	CLIP-seq
MIRT1301536	hsa-miR-3662	CLIP-seq
MIRT1301537	hsa-miR-3679-3p	CLIP-seq
MIRT1301538	hsa-miR-4252	CLIP-seq
MIRT1301539	hsa-miR-4284	CLIP-seq
MIRT1301540	hsa-miR-4435	CLIP-seq
MIRT1301541	hsa-miR-4691-3p	CLIP-seq
MIRT1301542	hsa-miR-4708-3p	CLIP-seq
MIRT1301543	hsa-miR-4772-3p	CLIP-seq
MIRT1301544	hsa-miR-495	CLIP-seq
MIRT1301545	hsa-miR-548u	CLIP-seq
MIRT1301546	hsa-miR-550a	CLIP-seq
MIRT1301547	hsa-miR-661	CLIP-seq
MIRT1301527	hsa-miR-1343	CLIP-seq
MIRT1301523	hsa-miR-224	CLIP-seq
MIRT1301531	hsa-miR-2355-5p	CLIP-seq
MIRT1301537	hsa-miR-3679-3p	CLIP-seq
MIRT1301539	hsa-miR-4284	CLIP-seq
MIRT2089520	hsa-miR-764	CLIP-seq
MIRT2314443	hsa-miR-1234	CLIP-seq
MIRT2314444	hsa-miR-125a-3p	CLIP-seq
MIRT2314445	hsa-miR-150	CLIP-seq
MIRT2314446	hsa-miR-342-5p	CLIP-seq
MIRT2314447	hsa-miR-3934	CLIP-seq
MIRT2314448	hsa-miR-4651	CLIP-seq
MIRT2314449	hsa-miR-4664-5p	CLIP-seq
MIRT2314450	hsa-miR-520g	CLIP-seq
MIRT2314451	hsa-miR-520h	CLIP-seq
MIRT2314452	hsa-miR-608	CLIP-seq
MIRT2314453	hsa-miR-640	CLIP-seq
MIRT2089520	hsa-miR-764	CLIP-seq
MIRT2393633	hsa-miR-122	CLIP-seq
MIRT2393634	hsa-miR-130a	CLIP-seq
MIRT2393635	hsa-miR-130b	CLIP-seq
MIRT2393636	hsa-miR-301a	CLIP-seq
MIRT2393637	hsa-miR-301b	CLIP-seq
MIRT2393638	hsa-miR-3650	CLIP-seq
MIRT2393639	hsa-miR-454	CLIP-seq
MIRT1301527	hsa-miR-1343	CLIP-seq
MIRT2458060	hsa-miR-3064-3p	CLIP-seq
MIRT2393633	hsa-miR-122	CLIP-seq
MIRT2393634	hsa-miR-130a	CLIP-seq
MIRT2393635	hsa-miR-130b	CLIP-seq
MIRT1301527	hsa-miR-1343	CLIP-seq
MIRT1301532	hsa-miR-24	CLIP-seq
MIRT2393636	hsa-miR-301a	CLIP-seq
MIRT2393637	hsa-miR-301b	CLIP-seq
MIRT2458060	hsa-miR-3064-3p	CLIP-seq
MIRT2393638	hsa-miR-3650	CLIP-seq
MIRT1301539	hsa-miR-4284	CLIP-seq
MIRT2393639	hsa-miR-454	CLIP-seq
MIRT2610856	hsa-miR-4735-5p	CLIP-seq
MIRT1301524	hsa-miR-4775	CLIP-seq
MIRT1301525	hsa-miR-590-3p	CLIP-seq
MIRT2393633	hsa-miR-122	CLIP-seq
MIRT2393634	hsa-miR-130a	CLIP-seq
MIRT2393635	hsa-miR-130b	CLIP-seq
MIRT1301527	hsa-miR-1343	CLIP-seq
MIRT1301532	hsa-miR-24	CLIP-seq
MIRT2393636	hsa-miR-301a	CLIP-seq
MIRT2393637	hsa-miR-301b	CLIP-seq
MIRT2458060	hsa-miR-3064-3p	CLIP-seq
MIRT2393638	hsa-miR-3650	CLIP-seq
MIRT1301539	hsa-miR-4284	CLIP-seq
MIRT2393639	hsa-miR-454	CLIP-seq
MIRT2610856	hsa-miR-4735-5p	CLIP-seq
MIRT1301543	hsa-miR-4772-3p	CLIP-seq
MIRT1301524	hsa-miR-4775	CLIP-seq
MIRT1301525	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003689	Function	DNA clamp loader activity	IBA	21873635
GO:0003689	Function	DNA clamp loader activity	IDA	12930902
GO:0005515	Function	Protein binding	IPI	9488738, 15655353, 18499658
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	TAS
GO:0005663	Component	DNA replication factor C complex	IBA	21873635
GO:0005663	Component	DNA replication factor C complex	IDA	9488738
GO:0006260	Process	DNA replication	TAS
GO:0006261	Process	DNA-dependent DNA replication	IBA	21873635
GO:0006281	Process	DNA repair	IBA	21873635
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	TAS
GO:0006296	Process	Nucleotide-excision repair, DNA incision, 5'-to lesion	TAS
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	TAS
GO:0017116	Function	Single-stranded DNA helicase activity	IDA	12930902
GO:0019899	Function	Enzyme binding	IEA
GO:0019985	Process	Translesion synthesis	TAS
GO:0031390	Component	Ctf18 RFC-like complex	IDA	12930902
GO:0032201	Process	Telomere maintenance via semi-conservative replication	TAS
GO:0032508	Process	DNA duplex unwinding	IEA
GO:0033683	Process	Nucleotide-excision repair, DNA incision	TAS
GO:0042276	Process	Error-prone translesion synthesis	TAS
GO:0042769	Process	DNA damage response, detection of DNA damage	TAS
GO:0070987	Process	Error-free translesion synthesis	TAS
GO:1900264	Process	Positive regulation of DNA-directed DNA polymerase activity	IDA	12930902
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS

Other IDs

• MIM: 600404
• HGNC: 9970
• e!Ensembl: ENSG00000049541

Protein

• UniProt ID: P35250
• Protein name: Replication factor C subunit 2 (Activator 1 40 kDa subunit) (A1 40 kDa subunit) (Activator 1 subunit 2) (Replication factor C 40 kDa subunit) (RF-C 40 kDa subunit) (RFC40)
• Protein function: Subunit of the replication factor C (RFC) complex which acts during elongation of primed DNA templates by DNA polymerases delta and epsilon, and is necessary for ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA
• PDB: 6VVO, 7Z6H, 8UI7, 8UI8, 8UI9, 8UII, 8UMT, 8UMU, 8UMV, 8UMW, 8UMY, 8UN0, 8UNJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00004	AAA	72 → 193	ATPase family associated with various cellular activities (AAA)	Domain
  PF08542	Rep_fac_C	258 → 343	Replication factor C C-terminal domain	Domain

• Sequence:

  MEVEAVCGGAGEVEAQDSDPAPAFSKAPGSAGHYELPWVEKYRPVKLNEIVGNEDTVSRL
  EVFAREGNVPNIIIAGPPGTGKTTSILCLARALLGPALKDAMLELNASNDRGIDVVRNKI
  KMFAQQKVTLPKGRHKIIILDEADSMTDGAQQALRRTMEIYSKTTRFALACNASDKIIEP
  IQSRCAVLRYTKLTDAQILTRLMNVIEKERVPYTDDGLEAIIFTAQGDMRQALNNLQSTF
  SGFGFINSENVFKVCDEPHPLLVKEMIQHCVNANIDEAYKILAHLWHLGYSPEDIIGNIF
  RVCKTFQMAEYLKLEFIKEIGYTHMKIAEGVNSLLQMAGLLARLCQKTMAPVAS

• Sequence length: 354

Pathways

KEGG:

DNA replication
Base excision repair
Nucleotide excision repair
Mismatch repair

Reactome:

Translesion synthesis by REV1
Recognition of DNA damage by PCNA-containing replication complex
Translesion Synthesis by POLH
Polymerase switching on the C-strand of the telomere
Activation of ATR in response to replication stress
PCNA-Dependent Long Patch Base Excision Repair
Translesion synthesis by POLK
Translesion synthesis by POLI
Termination of translesion DNA synthesis
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Regulation of TP53 Activity through Phosphorylation
Polymerase switching
G2/M DNA damage checkpoint

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Bicuspid aortic valve	Bicuspid aortic valve	rs1569484234, rs1569484208
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Cornea plana	Cornea plana	rs121917858, rs121917860, rs121917862, rs121917863, rs386833985, rs386833986, rs757611751
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental regression	Developmental regression	rs1224421127
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354
Hypertension	Hypertension, Renovascular	rs13306026
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
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
Mitral valve prolapse	Mitral Valve Prolapse Syndrome	rs768737101
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Precocious puberty	Precocious Puberty	rs879255238, rs879255239, rs879255240, rs1264639964, rs1566764505
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Renal insufficiency	Renal Insufficiency	rs1596536873
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Supravalvar aortic stenosis	Supravalvular aortic stenosis	rs137854452, rs137854453, rs2132322943, rs1563826213, rs137854454, rs137854455, rs1554686162, rs397516433, rs727503783, rs727503782, rs727503022, rs727503023, rs727503024, rs727503026, rs727503027, rs727503028, rs727503029, rs727503031, rs727503033, rs727503034, rs727503035, rs727504419, rs727504433, rs727504434, rs727504581, rs730880355, rs863223518, rs863223520, rs200862792, rs878854452, rs886039351, rs1554669800, rs1554672602, rs1554672587, rs1554666513, rs1554669297, rs1554676454, rs1400530335, rs1563836689, rs1563793627, rs1583959262, rs1584494326, rs1583818183, rs1787875866, rs1791626037, rs1794096639, rs1794104889, rs199621188, rs1795205877, rs1797063858, rs782528759, rs1797218441, rs782674700
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Unknown
Disease term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure			ClinVar
Mental depression	Depressive disorder			ClinVar
Myocardial infarction	Myocardial Infarction			ClinVar
Otitis media	Chronic otitis media			ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney			ClinVar
Williams syndrome	Williams syndrome			ClinVar
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Hepatocellular	Stimulate	34022962
Choriocarcinoma	Stimulate	15846072
Colorectal Neoplasms	Associate	30658502, 37821801
Diabetes Mellitus Type 2	Associate	31797865
DNA Virus Infections	Associate	23112151
Esophageal Squamous Cell Carcinoma	Associate	31845510
Fanconi Anemia	Associate	34404366
Gestational Trophoblastic Disease	Stimulate	15846072
Glioblastoma	Associate	15494095
Glioma	Associate	35210438
Kidney Neoplasms	Associate	36189312
Myocardial Infarction	Associate	40587682
Neoplasm Metastasis	Associate	37821801
Neoplasms	Associate	35210438, 36189312, 37821801
Prostatic Neoplasms	Associate	37950047
Prostatic Neoplasms Castration Resistant	Stimulate	37950047
Sarcoma	Stimulate	35483337
Stomach Neoplasms	Associate	35791074
Uterine Cervical Dysplasia	Associate	34404366
Uterine Cervical Neoplasms	Associate	34404366
Williams Syndrome	Associate	17564965, 22608712, 25105779, 28098859