ERF (ETS2 repressor factor)

Gene

• Entrez ID: 2077
• Gene name: ETS2 repressor factor
• Gene symbol: ERF
• Synonyms: CHYTS, CRS4, PE-2, PE2
• Chromosome: 19
• Chromosome location: 19q13.2
• Summary: ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777006	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs587777007	CT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs587777008	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777009	C>A,T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs587777010	G>A	Pathogenic	Stop gained, coding sequence variant
rs864321680	T>C	Pathogenic	Splice acceptor variant
rs864321681	T>C	Pathogenic	Missense variant, intron variant, upstream transcript variant, genic upstream transcript variant, initiator codon variant
rs886041001	T>C	Pathogenic	Missense variant, coding sequence variant
rs1064794325	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796715	GG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555750642	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555750721	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555750741	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555750795	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555750816	CA>-	Pathogenic	Coding sequence variant, stop gained
rs1568472223	GGCGGGGCACT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1568472771	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1568475667	CCCCCACCTGTGTCCGCCGGGGTCTTCATGCTGGGGGGCCCGGGGCGAAGCGCCCCGATTCCGGGCCGCGGCTCCCG>-	Pathogenic	5 prime UTR variant, upstream transcript variant, initiator codon variant, genic upstream transcript variant, splice donor variant, intron variant
rs1599820741	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1599823350	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1599824091	C>T	Likely-pathogenic	Coding sequence variant, missense variant, initiator codon variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022909	hsa-miR-124-3p	Microarray	18668037
MIRT037283	hsa-miR-877-5p	CLASH	23622248
MIRT035783	hsa-miR-1914-5p	CLASH	23622248
MIRT968659	hsa-miR-1207-3p	CLIP-seq
MIRT968660	hsa-miR-124	CLIP-seq
MIRT968661	hsa-miR-1321	CLIP-seq
MIRT968662	hsa-miR-181a	CLIP-seq
MIRT968663	hsa-miR-181b	CLIP-seq
MIRT968664	hsa-miR-181c	CLIP-seq
MIRT968665	hsa-miR-181d	CLIP-seq
MIRT968666	hsa-miR-1827	CLIP-seq
MIRT968667	hsa-miR-1910	CLIP-seq
MIRT968668	hsa-miR-2052	CLIP-seq
MIRT968669	hsa-miR-22	CLIP-seq
MIRT968670	hsa-miR-28-5p	CLIP-seq
MIRT968671	hsa-miR-299-3p	CLIP-seq
MIRT968672	hsa-miR-300	CLIP-seq
MIRT968673	hsa-miR-3127-3p	CLIP-seq
MIRT968674	hsa-miR-3127-5p	CLIP-seq
MIRT968675	hsa-miR-3139	CLIP-seq
MIRT968676	hsa-miR-3150a-3p	CLIP-seq
MIRT968677	hsa-miR-3151	CLIP-seq
MIRT968678	hsa-miR-3175	CLIP-seq
MIRT968679	hsa-miR-3179	CLIP-seq
MIRT968680	hsa-miR-3192	CLIP-seq
MIRT968681	hsa-miR-3656	CLIP-seq
MIRT968682	hsa-miR-3682-5p	CLIP-seq
MIRT968683	hsa-miR-3714	CLIP-seq
MIRT968684	hsa-miR-381	CLIP-seq
MIRT968685	hsa-miR-3910	CLIP-seq
MIRT968686	hsa-miR-3918	CLIP-seq
MIRT968687	hsa-miR-3919	CLIP-seq
MIRT968688	hsa-miR-3925-3p	CLIP-seq
MIRT968689	hsa-miR-3925-5p	CLIP-seq
MIRT968690	hsa-miR-3936	CLIP-seq
MIRT968691	hsa-miR-3945	CLIP-seq
MIRT968692	hsa-miR-4257	CLIP-seq
MIRT968693	hsa-miR-4262	CLIP-seq
MIRT968694	hsa-miR-4270	CLIP-seq
MIRT968695	hsa-miR-4278	CLIP-seq
MIRT968696	hsa-miR-4290	CLIP-seq
MIRT968697	hsa-miR-4419a	CLIP-seq
MIRT968698	hsa-miR-4441	CLIP-seq
MIRT968699	hsa-miR-4446-3p	CLIP-seq
MIRT968700	hsa-miR-4447	CLIP-seq
MIRT968701	hsa-miR-4450	CLIP-seq
MIRT968702	hsa-miR-4472	CLIP-seq
MIRT968703	hsa-miR-4481	CLIP-seq
MIRT968704	hsa-miR-4492	CLIP-seq
MIRT968705	hsa-miR-4498	CLIP-seq
MIRT968706	hsa-miR-4505	CLIP-seq
MIRT968707	hsa-miR-4510	CLIP-seq
MIRT968708	hsa-miR-4535	CLIP-seq
MIRT968709	hsa-miR-4640-3p	CLIP-seq
MIRT968710	hsa-miR-4640-5p	CLIP-seq
MIRT968711	hsa-miR-4641	CLIP-seq
MIRT968712	hsa-miR-4666-3p	CLIP-seq
MIRT968713	hsa-miR-4667-5p	CLIP-seq
MIRT968714	hsa-miR-4668-5p	CLIP-seq
MIRT968715	hsa-miR-4685-5p	CLIP-seq
MIRT968716	hsa-miR-4698	CLIP-seq
MIRT968717	hsa-miR-4700-5p	CLIP-seq
MIRT968718	hsa-miR-4716-3p	CLIP-seq
MIRT968719	hsa-miR-4720-3p	CLIP-seq
MIRT968720	hsa-miR-4726-5p	CLIP-seq
MIRT968721	hsa-miR-4728-5p	CLIP-seq
MIRT968722	hsa-miR-4731-5p	CLIP-seq
MIRT968723	hsa-miR-4738-5p	CLIP-seq
MIRT968724	hsa-miR-4739	CLIP-seq
MIRT968725	hsa-miR-4745-5p	CLIP-seq
MIRT968726	hsa-miR-4749-3p	CLIP-seq
MIRT968727	hsa-miR-4756-5p	CLIP-seq
MIRT968728	hsa-miR-4761-3p	CLIP-seq
MIRT968729	hsa-miR-4763-5p	CLIP-seq
MIRT968730	hsa-miR-4773	CLIP-seq
MIRT968731	hsa-miR-4776-5p	CLIP-seq
MIRT968732	hsa-miR-4789-5p	CLIP-seq
MIRT968733	hsa-miR-486-3p	CLIP-seq
MIRT968734	hsa-miR-491-5p	CLIP-seq
MIRT968735	hsa-miR-506	CLIP-seq
MIRT968736	hsa-miR-515-5p	CLIP-seq
MIRT968737	hsa-miR-545	CLIP-seq
MIRT968738	hsa-miR-548p	CLIP-seq
MIRT968739	hsa-miR-558	CLIP-seq
MIRT968740	hsa-miR-561	CLIP-seq
MIRT968741	hsa-miR-646	CLIP-seq
MIRT968742	hsa-miR-708	CLIP-seq
MIRT968743	hsa-miR-762	CLIP-seq
MIRT968744	hsa-miR-766	CLIP-seq
MIRT968745	hsa-miR-939	CLIP-seq
MIRT968659	hsa-miR-1207-3p	CLIP-seq
MIRT1987099	hsa-miR-1207-5p	CLIP-seq
MIRT968660	hsa-miR-124	CLIP-seq
MIRT1987100	hsa-miR-1250	CLIP-seq
MIRT968661	hsa-miR-1321	CLIP-seq
MIRT968666	hsa-miR-1827	CLIP-seq
MIRT968667	hsa-miR-1910	CLIP-seq
MIRT1987101	hsa-miR-2054	CLIP-seq
MIRT968669	hsa-miR-22	CLIP-seq
MIRT968670	hsa-miR-28-5p	CLIP-seq
MIRT968675	hsa-miR-3139	CLIP-seq
MIRT968676	hsa-miR-3150a-3p	CLIP-seq
MIRT1987102	hsa-miR-3150b-3p	CLIP-seq
MIRT968678	hsa-miR-3175	CLIP-seq
MIRT968680	hsa-miR-3192	CLIP-seq
MIRT1987103	hsa-miR-342-5p	CLIP-seq
MIRT1987104	hsa-miR-3612	CLIP-seq
MIRT1987105	hsa-miR-3620	CLIP-seq
MIRT1987106	hsa-miR-3671	CLIP-seq
MIRT1987107	hsa-miR-3674	CLIP-seq
MIRT968683	hsa-miR-3714	CLIP-seq
MIRT968685	hsa-miR-3910	CLIP-seq
MIRT968690	hsa-miR-3936	CLIP-seq
MIRT968691	hsa-miR-3945	CLIP-seq
MIRT1987108	hsa-miR-4269	CLIP-seq
MIRT968695	hsa-miR-4278	CLIP-seq
MIRT1987109	hsa-miR-4283	CLIP-seq
MIRT968696	hsa-miR-4290	CLIP-seq
MIRT968699	hsa-miR-4446-3p	CLIP-seq
MIRT968701	hsa-miR-4450	CLIP-seq
MIRT968703	hsa-miR-4481	CLIP-seq
MIRT1987110	hsa-miR-4489	CLIP-seq
MIRT968704	hsa-miR-4492	CLIP-seq
MIRT968705	hsa-miR-4498	CLIP-seq
MIRT968706	hsa-miR-4505	CLIP-seq
MIRT968708	hsa-miR-4535	CLIP-seq
MIRT968710	hsa-miR-4640-5p	CLIP-seq
MIRT968711	hsa-miR-4641	CLIP-seq
MIRT1987111	hsa-miR-4651	CLIP-seq
MIRT1987112	hsa-miR-4656	CLIP-seq
MIRT1987113	hsa-miR-4664-5p	CLIP-seq
MIRT1987114	hsa-miR-4667-3p	CLIP-seq
MIRT968713	hsa-miR-4667-5p	CLIP-seq
MIRT968715	hsa-miR-4685-5p	CLIP-seq
MIRT1987115	hsa-miR-4689	CLIP-seq
MIRT1987116	hsa-miR-4690-5p	CLIP-seq
MIRT968717	hsa-miR-4700-5p	CLIP-seq
MIRT968718	hsa-miR-4716-3p	CLIP-seq
MIRT968719	hsa-miR-4720-3p	CLIP-seq
MIRT1987117	hsa-miR-4721	CLIP-seq
MIRT968720	hsa-miR-4726-5p	CLIP-seq
MIRT968721	hsa-miR-4728-5p	CLIP-seq
MIRT968722	hsa-miR-4731-5p	CLIP-seq
MIRT1987118	hsa-miR-4732-5p	CLIP-seq
MIRT968724	hsa-miR-4739	CLIP-seq
MIRT968725	hsa-miR-4745-5p	CLIP-seq
MIRT968727	hsa-miR-4756-5p	CLIP-seq
MIRT968728	hsa-miR-4761-3p	CLIP-seq
MIRT1987119	hsa-miR-4763-3p	CLIP-seq
MIRT968729	hsa-miR-4763-5p	CLIP-seq
MIRT968731	hsa-miR-4776-5p	CLIP-seq
MIRT1987120	hsa-miR-4779	CLIP-seq
MIRT1987121	hsa-miR-4784	CLIP-seq
MIRT968734	hsa-miR-491-5p	CLIP-seq
MIRT968735	hsa-miR-506	CLIP-seq
MIRT1987122	hsa-miR-508-3p	CLIP-seq
MIRT968737	hsa-miR-545	CLIP-seq
MIRT968738	hsa-miR-548p	CLIP-seq
MIRT968739	hsa-miR-558	CLIP-seq
MIRT1987123	hsa-miR-607	CLIP-seq
MIRT1987124	hsa-miR-608	CLIP-seq
MIRT968741	hsa-miR-646	CLIP-seq
MIRT1987125	hsa-miR-650	CLIP-seq
MIRT968742	hsa-miR-708	CLIP-seq
MIRT968743	hsa-miR-762	CLIP-seq
MIRT968745	hsa-miR-939	CLIP-seq
MIRT1987126	hsa-miR-940	CLIP-seq
MIRT2221509	hsa-miR-1285	CLIP-seq
MIRT2221510	hsa-miR-129-3p	CLIP-seq
MIRT2221511	hsa-miR-140-3p	CLIP-seq
MIRT2221512	hsa-miR-145	CLIP-seq
MIRT2221513	hsa-miR-1470	CLIP-seq
MIRT968662	hsa-miR-181a	CLIP-seq
MIRT968663	hsa-miR-181b	CLIP-seq
MIRT968664	hsa-miR-181c	CLIP-seq
MIRT968665	hsa-miR-181d	CLIP-seq
MIRT968666	hsa-miR-1827	CLIP-seq
MIRT968667	hsa-miR-1910	CLIP-seq
MIRT968673	hsa-miR-3127-3p	CLIP-seq
MIRT968674	hsa-miR-3127-5p	CLIP-seq
MIRT2221514	hsa-miR-3162-3p	CLIP-seq
MIRT2221515	hsa-miR-3187-5p	CLIP-seq
MIRT2221516	hsa-miR-323b-3p	CLIP-seq
MIRT968681	hsa-miR-3656	CLIP-seq
MIRT2221517	hsa-miR-3679-3p	CLIP-seq
MIRT968686	hsa-miR-3918	CLIP-seq
MIRT968688	hsa-miR-3925-3p	CLIP-seq
MIRT2221518	hsa-miR-3943	CLIP-seq
MIRT968692	hsa-miR-4257	CLIP-seq
MIRT968693	hsa-miR-4262	CLIP-seq
MIRT2221519	hsa-miR-4264	CLIP-seq
MIRT2221520	hsa-miR-4292	CLIP-seq
MIRT2221521	hsa-miR-4469	CLIP-seq
MIRT968703	hsa-miR-4481	CLIP-seq
MIRT2221522	hsa-miR-455-3p	CLIP-seq
MIRT968709	hsa-miR-4640-3p	CLIP-seq
MIRT1987114	hsa-miR-4667-3p	CLIP-seq
MIRT2221523	hsa-miR-4687-5p	CLIP-seq
MIRT968723	hsa-miR-4738-5p	CLIP-seq
MIRT968725	hsa-miR-4745-5p	CLIP-seq
MIRT968726	hsa-miR-4749-3p	CLIP-seq
MIRT968733	hsa-miR-486-3p	CLIP-seq
MIRT968736	hsa-miR-515-5p	CLIP-seq
MIRT2221524	hsa-miR-612	CLIP-seq
MIRT2221525	hsa-miR-659	CLIP-seq
MIRT968744	hsa-miR-766	CLIP-seq
MIRT2221518	hsa-miR-3943	CLIP-seq
MIRT1987099	hsa-miR-1207-5p	CLIP-seq
MIRT1987119	hsa-miR-4763-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	7588608
GO:0000785	Component	Chromatin	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	7588608
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0043565	Function	Sequence-specific DNA binding	IDA	23332764

Other IDs

• MIM: 611888
• HGNC: 3444
• e!Ensembl: ENSG00000105722

Protein

• UniProt ID: P50548
• Protein name: ETS domain-containing transcription factor ERF (Ets2 repressor factor) (PE-2)
• Protein function: Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioa
• PDB: 7JSA, 7JSL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00178	Ets	28 → 107	Ets-domain	Domain

• Sequence:

  MKTPADTGFAFPDWAYKPESSPGSRQIQLWHFILELLRKEEYQGVIAWQGDYGEFVIKDP
  DEVARLWGVRKCKPQMNYDKLSRALRYYYNKRILHKTKGKRFTYKFNFNKLVLVNYPFID
  VGLAGGAVPQSAPPVPSGGSHFRFPPSTPSEVLSPTEDPRSPPACSSSSSSLFSAVVARR
  LGRGSVSDCSDGTSELEEPLGEDPRARPPGPPDLGAFRGPPLARLPHDPGVFRVYPRPRG
  GPEPLSPFPVSPLAGPGSLLPPQLSPALPMTPTHLAYTPSPTLSPMYPSGGGGPSGSGGG
  SHFSFSPEDMKRYLQAHTQSVYNYHLSPRAFLHYPGLVVPQPQRPDKCPLPPMAPETPPV
  PSSASSSSSSSSSPFKFKLQPPPLGRRQRAAGEKAVAGADKSGGSAGGLAEGAGALAPPP
  PPPQIKVEPISEGESEEVEVTDISDEDEEDGEVFKTPRAPPAPPKPEPGEAPGASQCMPL
  KLRFKRRWSEDCRLEGGGGPAGGFEDEGEDKKVRGEGPGEAGGPLTPRRVSSDLQHATAQ
  LSLEHRDS

• Sequence length: 548

Pathways

Reactome:

Oncogene Induced Senescence

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	stomatocytic anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Craniosynostosis	Craniosynostosis, CRANIOSYNOSTOSIS 4, Complex craniosynostosis, Craniosynostosis, Type 1	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs281865153, rs281865154, rs864321680, rs864321681, rs1057517670, rs1085307122, rs1064794325, rs1884302, rs1555750816, rs1599823350	23354439, 23354439, 26097063, 27738187, 23354439, 28808027
Hearing loss	Conductive hearing loss	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
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
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
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29610475
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098

Unknown
Disease name	Disease term	dbSNP ID	References
Acanthosis nigricans	Acanthosis Nigricans	rs780668
Acrocephaly	Acrocephaly		23354439
Arnold-chiari malformation	Arnold Chiari Malformation, Arnold-Chiari Malformation, Type I, Arnold-Chiari Malformation, Type III, Arnold-Chiari Malformation, Type IV		23354439
Auditory processing disorder	Auditory Processing Disorder, Central		23354439
Blepharophimosis	Blepharophimosis
Brachycephaly	Brachycephaly		23354439
Bronchomalacia	Bronchomalacia
Cerebellar hypoplasia	Cerebellar Hypoplasia
Chiari malformation	Chiari malformation type II	rs1586680296	23354439
Chitayat syndrome	CHITAYAT SYNDROME		27738187, 26097063
Choanal atresia	Choanal Atresia
Congenital coloboma of iris	Congenital coloboma of iris
Congenital pectus excavatum	Congenital pectus excavatum
Conjunctivitis	Conjunctivitis
Craniofacial dysostosis	Craniofacial dysostosis type 1		23354439
Crouzon disease	Crouzon disease
Dolichocephaly	Long narrow head
Dwarfism	Dwarfism
Dysmorphic features	Dysmorphic features		23354439, 27738187, 20643727
Frontal bossing	Frontal bossing
Hypoplasia of the maxilla	Hypoplasia of the maxilla
Impaired cognition	Impaired cognition
Lambdoid synostosis	Familial lambdoid synostosis		23354439
Language development disorders	Language Development Disorders		23354439
Lung diseases	Lung Diseases, Interstitial
Melanocytic nevus	Melanocytic nevus
Metopic synostosis	Metopic synostosis		23354439
Plagiocephaly	Plagiocephaly
Proptosis	Exophthalmos
Prostatic neoplasms	Prostatic Neoplasms		29610475
Ptosis	Blepharoptosis, Ptosis	rs139920573
Scaphocephaly	Scaphycephaly		23354439
Speech delay	Speech Delay		23354439
Strabismus	Strabismus
Syndactyly of fingers	Syndactyly of fingers
Synostotic anterior plagiocephaly	Synostotic Anterior Plagiocephaly		23354439
Synostotic posterior plagiocephaly	Synostotic Posterior Plagiocephaly		23354439
Tracheomalacia	Tracheomalacia
Trigonocephaly	Trigonocephaly	rs281875280, rs184394424, rs200650442, rs762799389, rs556974765	23354439