ELMO2 (engulfment and cell motility 2)

Gene

• Entrez ID: 63916
• Gene name: Engulfment and cell motility 2
• Gene symbol: ELMO2
• Synonyms: CED-12, CED12, Ced-12A, ELMO-2, VMPI
• Chromosome: 20
• Chromosome location: 20q13.12
• Summary: The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in m

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs768410753	C>T	Pathogenic	Splice donor variant
rs886037918	C>G	Pathogenic	Splice acceptor variant
rs886037919	G>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016514	hsa-miR-193b-3p	Microarray	20304954
MIRT016635	hsa-miR-429	Reporter assay	20005803
MIRT020346	hsa-miR-200a-3p	Reporter assay	20005803
MIRT021068	hsa-miR-200c-3p	Reporter assay	20005803
MIRT021653	hsa-miR-141-3p	Reporter assay	20005803
MIRT024122	hsa-miR-200b-3p	Reporter assay	20005803
MIRT050992	hsa-miR-17-5p	CLASH	23622248
MIRT727777	hsa-miR-193a-3p	HITS-CLIP	22473208
MIRT016514	hsa-miR-193b-3p	HITS-CLIP	22473208
MIRT960871	hsa-miR-122	CLIP-seq
MIRT960872	hsa-miR-1225-3p	CLIP-seq
MIRT960873	hsa-miR-1233	CLIP-seq
MIRT960874	hsa-miR-1256	CLIP-seq
MIRT960875	hsa-miR-127-5p	CLIP-seq
MIRT960876	hsa-miR-1293	CLIP-seq
MIRT960877	hsa-miR-185	CLIP-seq
MIRT960878	hsa-miR-1909	CLIP-seq
MIRT960879	hsa-miR-193b	CLIP-seq
MIRT960880	hsa-miR-198	CLIP-seq
MIRT960881	hsa-miR-2355-5p	CLIP-seq
MIRT960882	hsa-miR-3135b	CLIP-seq
MIRT960883	hsa-miR-3175	CLIP-seq
MIRT960884	hsa-miR-3194-3p	CLIP-seq
MIRT960885	hsa-miR-3202	CLIP-seq
MIRT960886	hsa-miR-320e	CLIP-seq
MIRT960887	hsa-miR-323-5p	CLIP-seq
MIRT960888	hsa-miR-326	CLIP-seq
MIRT960889	hsa-miR-330-5p	CLIP-seq
MIRT960890	hsa-miR-339-3p	CLIP-seq
MIRT960891	hsa-miR-34b	CLIP-seq
MIRT960892	hsa-miR-34c-3p	CLIP-seq
MIRT960893	hsa-miR-3613-3p	CLIP-seq
MIRT960894	hsa-miR-3652	CLIP-seq
MIRT960895	hsa-miR-3679-3p	CLIP-seq
MIRT960896	hsa-miR-3686	CLIP-seq
MIRT960897	hsa-miR-4270	CLIP-seq
MIRT960898	hsa-miR-4278	CLIP-seq
MIRT960899	hsa-miR-4299	CLIP-seq
MIRT960900	hsa-miR-4306	CLIP-seq
MIRT960901	hsa-miR-4327	CLIP-seq
MIRT960902	hsa-miR-4430	CLIP-seq
MIRT960903	hsa-miR-4435	CLIP-seq
MIRT960904	hsa-miR-4441	CLIP-seq
MIRT960905	hsa-miR-4446-5p	CLIP-seq
MIRT960906	hsa-miR-4456	CLIP-seq
MIRT960907	hsa-miR-4459	CLIP-seq
MIRT960908	hsa-miR-4476	CLIP-seq
MIRT960909	hsa-miR-4483	CLIP-seq
MIRT960910	hsa-miR-4493	CLIP-seq
MIRT960911	hsa-miR-4505	CLIP-seq
MIRT960912	hsa-miR-4509	CLIP-seq
MIRT960913	hsa-miR-4640-5p	CLIP-seq
MIRT960914	hsa-miR-4644	CLIP-seq
MIRT960915	hsa-miR-4685-5p	CLIP-seq
MIRT960916	hsa-miR-4687-5p	CLIP-seq
MIRT960917	hsa-miR-4699-3p	CLIP-seq
MIRT960918	hsa-miR-4701-5p	CLIP-seq
MIRT960919	hsa-miR-4720-5p	CLIP-seq
MIRT960920	hsa-miR-4726-5p	CLIP-seq
MIRT960921	hsa-miR-4731-5p	CLIP-seq
MIRT960922	hsa-miR-4742-3p	CLIP-seq
MIRT960923	hsa-miR-4744	CLIP-seq
MIRT960924	hsa-miR-4747-5p	CLIP-seq
MIRT960925	hsa-miR-4753-5p	CLIP-seq
MIRT960926	hsa-miR-4756-3p	CLIP-seq
MIRT960927	hsa-miR-4768-5p	CLIP-seq
MIRT960928	hsa-miR-4778-5p	CLIP-seq
MIRT960929	hsa-miR-4799-3p	CLIP-seq
MIRT960930	hsa-miR-485-5p	CLIP-seq
MIRT960931	hsa-miR-513a-3p	CLIP-seq
MIRT960932	hsa-miR-539	CLIP-seq
MIRT960933	hsa-miR-548q	CLIP-seq
MIRT960934	hsa-miR-548u	CLIP-seq
MIRT960935	hsa-miR-580	CLIP-seq
MIRT960936	hsa-miR-588	CLIP-seq
MIRT960937	hsa-miR-629	CLIP-seq
MIRT960938	hsa-miR-665	CLIP-seq
MIRT960939	hsa-miR-760	CLIP-seq
MIRT960940	hsa-miR-767-3p	CLIP-seq
MIRT960941	hsa-miR-767-5p	CLIP-seq
MIRT960942	hsa-miR-892b	CLIP-seq
MIRT960943	hsa-miR-1184	CLIP-seq
MIRT960944	hsa-miR-1225-5p	CLIP-seq
MIRT960945	hsa-miR-1275	CLIP-seq
MIRT960946	hsa-miR-1343	CLIP-seq
MIRT960947	hsa-miR-15a	CLIP-seq
MIRT960948	hsa-miR-15b	CLIP-seq
MIRT960949	hsa-miR-16	CLIP-seq
MIRT960950	hsa-miR-195	CLIP-seq
MIRT960951	hsa-miR-1972	CLIP-seq
MIRT960952	hsa-miR-200b	CLIP-seq
MIRT960953	hsa-miR-200c	CLIP-seq
MIRT960954	hsa-miR-2278	CLIP-seq
MIRT960955	hsa-miR-299-3p	CLIP-seq
MIRT960956	hsa-miR-3132	CLIP-seq
MIRT960957	hsa-miR-3151	CLIP-seq
MIRT960885	hsa-miR-3202	CLIP-seq
MIRT960958	hsa-miR-323b-3p	CLIP-seq
MIRT960959	hsa-miR-3690	CLIP-seq
MIRT960960	hsa-miR-424	CLIP-seq
MIRT960961	hsa-miR-4254	CLIP-seq
MIRT960962	hsa-miR-4271	CLIP-seq
MIRT960905	hsa-miR-4446-5p	CLIP-seq
MIRT960963	hsa-miR-4447	CLIP-seq
MIRT960964	hsa-miR-4472	CLIP-seq
MIRT960908	hsa-miR-4476	CLIP-seq
MIRT960910	hsa-miR-4493	CLIP-seq
MIRT960965	hsa-miR-4525	CLIP-seq
MIRT960966	hsa-miR-4665-5p	CLIP-seq
MIRT960967	hsa-miR-4678	CLIP-seq
MIRT960968	hsa-miR-4717-5p	CLIP-seq
MIRT960969	hsa-miR-4723-5p	CLIP-seq
MIRT960970	hsa-miR-4724-5p	CLIP-seq
MIRT960971	hsa-miR-4725-3p	CLIP-seq
MIRT960924	hsa-miR-4747-5p	CLIP-seq
MIRT960925	hsa-miR-4753-5p	CLIP-seq
MIRT960972	hsa-miR-4755-3p	CLIP-seq
MIRT960973	hsa-miR-4755-5p	CLIP-seq
MIRT960926	hsa-miR-4756-3p	CLIP-seq
MIRT960974	hsa-miR-491-5p	CLIP-seq
MIRT960975	hsa-miR-497	CLIP-seq
MIRT960976	hsa-miR-625	CLIP-seq
MIRT960977	hsa-miR-670	CLIP-seq
MIRT960876	hsa-miR-1293	CLIP-seq
MIRT960946	hsa-miR-1343	CLIP-seq
MIRT960951	hsa-miR-1972	CLIP-seq
MIRT960952	hsa-miR-200b	CLIP-seq
MIRT960953	hsa-miR-200c	CLIP-seq
MIRT1984764	hsa-miR-3125	CLIP-seq
MIRT960885	hsa-miR-3202	CLIP-seq
MIRT960887	hsa-miR-323-5p	CLIP-seq
MIRT960958	hsa-miR-323b-3p	CLIP-seq
MIRT960888	hsa-miR-326	CLIP-seq
MIRT960889	hsa-miR-330-5p	CLIP-seq
MIRT1984765	hsa-miR-3916	CLIP-seq
MIRT1984766	hsa-miR-432	CLIP-seq
MIRT960909	hsa-miR-4483	CLIP-seq
MIRT1984767	hsa-miR-4496	CLIP-seq
MIRT1984768	hsa-miR-4533	CLIP-seq
MIRT960918	hsa-miR-4701-5p	CLIP-seq
MIRT960968	hsa-miR-4717-5p	CLIP-seq
MIRT960970	hsa-miR-4724-5p	CLIP-seq
MIRT960972	hsa-miR-4755-3p	CLIP-seq
MIRT960926	hsa-miR-4756-3p	CLIP-seq
MIRT960932	hsa-miR-539	CLIP-seq
MIRT960935	hsa-miR-580	CLIP-seq
MIRT960936	hsa-miR-588	CLIP-seq
MIRT960937	hsa-miR-629	CLIP-seq
MIRT960947	hsa-miR-15a	CLIP-seq
MIRT960948	hsa-miR-15b	CLIP-seq
MIRT960949	hsa-miR-16	CLIP-seq
MIRT960950	hsa-miR-195	CLIP-seq
MIRT960951	hsa-miR-1972	CLIP-seq
MIRT960952	hsa-miR-200b	CLIP-seq
MIRT960953	hsa-miR-200c	CLIP-seq
MIRT960958	hsa-miR-323b-3p	CLIP-seq
MIRT960888	hsa-miR-326	CLIP-seq
MIRT960889	hsa-miR-330-5p	CLIP-seq
MIRT960960	hsa-miR-424	CLIP-seq
MIRT960968	hsa-miR-4717-5p	CLIP-seq
MIRT960970	hsa-miR-4724-5p	CLIP-seq
MIRT960972	hsa-miR-4755-3p	CLIP-seq
MIRT960926	hsa-miR-4756-3p	CLIP-seq
MIRT960975	hsa-miR-497	CLIP-seq
MIRT960946	hsa-miR-1343	CLIP-seq
MIRT960888	hsa-miR-326	CLIP-seq
MIRT960889	hsa-miR-330-5p	CLIP-seq
MIRT960871	hsa-miR-122	CLIP-seq
MIRT960872	hsa-miR-1225-3p	CLIP-seq
MIRT960873	hsa-miR-1233	CLIP-seq
MIRT2522930	hsa-miR-125a-5p	CLIP-seq
MIRT2522931	hsa-miR-125b	CLIP-seq
MIRT960875	hsa-miR-127-5p	CLIP-seq
MIRT960876	hsa-miR-1293	CLIP-seq
MIRT2522932	hsa-miR-1299	CLIP-seq
MIRT960946	hsa-miR-1343	CLIP-seq
MIRT2522933	hsa-miR-196a	CLIP-seq
MIRT2522934	hsa-miR-196b	CLIP-seq
MIRT2522935	hsa-miR-24	CLIP-seq
MIRT2522936	hsa-miR-2681	CLIP-seq
MIRT2522937	hsa-miR-3064-5p	CLIP-seq
MIRT1984764	hsa-miR-3125	CLIP-seq
MIRT960882	hsa-miR-3135b	CLIP-seq
MIRT2522938	hsa-miR-3155	CLIP-seq
MIRT2522939	hsa-miR-3155b	CLIP-seq
MIRT2522940	hsa-miR-3157-5p	CLIP-seq
MIRT960885	hsa-miR-3202	CLIP-seq
MIRT960886	hsa-miR-320e	CLIP-seq
MIRT960887	hsa-miR-323-5p	CLIP-seq
MIRT960888	hsa-miR-326	CLIP-seq
MIRT960889	hsa-miR-330-5p	CLIP-seq
MIRT960893	hsa-miR-3613-3p	CLIP-seq
MIRT1984765	hsa-miR-3916	CLIP-seq
MIRT2522941	hsa-miR-3926	CLIP-seq
MIRT2522942	hsa-miR-3934	CLIP-seq
MIRT2522943	hsa-miR-409-5p	CLIP-seq
MIRT2522944	hsa-miR-411	CLIP-seq
MIRT2522945	hsa-miR-4267	CLIP-seq
MIRT2522946	hsa-miR-4284	CLIP-seq
MIRT2522947	hsa-miR-4319	CLIP-seq
MIRT2522948	hsa-miR-4330	CLIP-seq
MIRT960908	hsa-miR-4476	CLIP-seq
MIRT960909	hsa-miR-4483	CLIP-seq
MIRT960910	hsa-miR-4493	CLIP-seq
MIRT1984767	hsa-miR-4496	CLIP-seq
MIRT2522949	hsa-miR-4522	CLIP-seq
MIRT1984768	hsa-miR-4533	CLIP-seq
MIRT2522950	hsa-miR-4662a-3p	CLIP-seq
MIRT960916	hsa-miR-4687-5p	CLIP-seq
MIRT2522951	hsa-miR-4691-3p	CLIP-seq
MIRT2522952	hsa-miR-4732-3p	CLIP-seq
MIRT960924	hsa-miR-4747-5p	CLIP-seq
MIRT960925	hsa-miR-4753-5p	CLIP-seq
MIRT2522953	hsa-miR-4757-5p	CLIP-seq
MIRT2522954	hsa-miR-484	CLIP-seq
MIRT2522955	hsa-miR-510	CLIP-seq
MIRT2522956	hsa-miR-512-5p	CLIP-seq
MIRT2522957	hsa-miR-548p	CLIP-seq
MIRT2522958	hsa-miR-548s	CLIP-seq
MIRT2522959	hsa-miR-552	CLIP-seq
MIRT2522960	hsa-miR-604	CLIP-seq
MIRT2522961	hsa-miR-615-5p	CLIP-seq
MIRT960937	hsa-miR-629	CLIP-seq
MIRT2522962	hsa-miR-644	CLIP-seq
MIRT2522963	hsa-miR-647	CLIP-seq
MIRT2522964	hsa-miR-663b	CLIP-seq
MIRT960977	hsa-miR-670	CLIP-seq
MIRT960941	hsa-miR-767-5p	CLIP-seq
MIRT2522965	hsa-miR-875-3p	CLIP-seq
MIRT960871	hsa-miR-122	CLIP-seq
MIRT960872	hsa-miR-1225-3p	CLIP-seq
MIRT960873	hsa-miR-1233	CLIP-seq
MIRT2522930	hsa-miR-125a-5p	CLIP-seq
MIRT2522931	hsa-miR-125b	CLIP-seq
MIRT960875	hsa-miR-127-5p	CLIP-seq
MIRT960876	hsa-miR-1293	CLIP-seq
MIRT2522932	hsa-miR-1299	CLIP-seq
MIRT960946	hsa-miR-1343	CLIP-seq
MIRT2522933	hsa-miR-196a	CLIP-seq
MIRT2522934	hsa-miR-196b	CLIP-seq
MIRT2522936	hsa-miR-2681	CLIP-seq
MIRT2522937	hsa-miR-3064-5p	CLIP-seq
MIRT1984764	hsa-miR-3125	CLIP-seq
MIRT960882	hsa-miR-3135b	CLIP-seq
MIRT2522938	hsa-miR-3155	CLIP-seq
MIRT2522939	hsa-miR-3155b	CLIP-seq
MIRT2522940	hsa-miR-3157-5p	CLIP-seq
MIRT960885	hsa-miR-3202	CLIP-seq
MIRT960886	hsa-miR-320e	CLIP-seq
MIRT960887	hsa-miR-323-5p	CLIP-seq
MIRT960888	hsa-miR-326	CLIP-seq
MIRT960889	hsa-miR-330-5p	CLIP-seq
MIRT960893	hsa-miR-3613-3p	CLIP-seq
MIRT2679940	hsa-miR-383	CLIP-seq
MIRT1984765	hsa-miR-3916	CLIP-seq
MIRT2522941	hsa-miR-3926	CLIP-seq
MIRT2522942	hsa-miR-3934	CLIP-seq
MIRT2522943	hsa-miR-409-5p	CLIP-seq
MIRT2522944	hsa-miR-411	CLIP-seq
MIRT2522945	hsa-miR-4267	CLIP-seq
MIRT2522947	hsa-miR-4319	CLIP-seq
MIRT2522948	hsa-miR-4330	CLIP-seq
MIRT2679941	hsa-miR-4450	CLIP-seq
MIRT960908	hsa-miR-4476	CLIP-seq
MIRT960909	hsa-miR-4483	CLIP-seq
MIRT960910	hsa-miR-4493	CLIP-seq
MIRT1984767	hsa-miR-4496	CLIP-seq
MIRT2522949	hsa-miR-4522	CLIP-seq
MIRT1984768	hsa-miR-4533	CLIP-seq
MIRT2522950	hsa-miR-4662a-3p	CLIP-seq
MIRT960916	hsa-miR-4687-5p	CLIP-seq
MIRT2522951	hsa-miR-4691-3p	CLIP-seq
MIRT2679942	hsa-miR-4713-3p	CLIP-seq
MIRT2522952	hsa-miR-4732-3p	CLIP-seq
MIRT960924	hsa-miR-4747-5p	CLIP-seq
MIRT960925	hsa-miR-4753-5p	CLIP-seq
MIRT2522953	hsa-miR-4757-5p	CLIP-seq
MIRT2679943	hsa-miR-4772-5p	CLIP-seq
MIRT2522954	hsa-miR-484	CLIP-seq
MIRT960974	hsa-miR-491-5p	CLIP-seq
MIRT2522955	hsa-miR-510	CLIP-seq
MIRT2522956	hsa-miR-512-5p	CLIP-seq
MIRT960932	hsa-miR-539	CLIP-seq
MIRT2522957	hsa-miR-548p	CLIP-seq
MIRT2522958	hsa-miR-548s	CLIP-seq
MIRT2522959	hsa-miR-552	CLIP-seq
MIRT960935	hsa-miR-580	CLIP-seq
MIRT2522960	hsa-miR-604	CLIP-seq
MIRT2522961	hsa-miR-615-5p	CLIP-seq
MIRT960937	hsa-miR-629	CLIP-seq
MIRT2522962	hsa-miR-644	CLIP-seq
MIRT2522963	hsa-miR-647	CLIP-seq
MIRT2522964	hsa-miR-663b	CLIP-seq
MIRT960977	hsa-miR-670	CLIP-seq
MIRT960941	hsa-miR-767-5p	CLIP-seq
MIRT2522965	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20679435, 24567399, 32296183
GO:0005829	Component	Cytosol	IDA	20679435
GO:0005829	Component	Cytosol	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0007015	Process	Actin filament organization	IBA	21873635
GO:0016020	Component	Membrane	IDA	20679435
GO:0017124	Function	SH3 domain binding	IEA
GO:0030971	Function	Receptor tyrosine kinase binding	IPI	20679435
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	TAS
GO:0048870	Process	Cell motility	IBA	21873635
GO:0060326	Process	Cell chemotaxis	IMP	20679435
GO:0098609	Process	Cell-cell adhesion	IEA

Other IDs

• MIM: 606421
• HGNC: 17233
• e!Ensembl: ENSG00000062598

Protein

• UniProt ID: Q96JJ3
• Protein name: Engulfment and cell motility protein 2 (Protein ced-12 homolog A) (hCed-12A)
• Protein function: Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May en
• PDB: 6IDX, 6IE1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11841	DUF3361	115 → 272	Domain of unknown function (DUF3361)	Family
  PF04727	ELMO_CED12	295 → 474	ELMO/CED-12 family	Family
  PF16457	PH_12	541 → 667	Pleckstrin homology domain	Domain

• Sequence:

  MPPPSDIVKVAIEWPGANAQLLEIDQKRPLASIIKEVCDGWSLPNPEYYTLRYADGPQLY
  ITEQTRSDIKNGTILQLAISPSRAARQLMERTQSSNMETRLDAMKELAKLSADVTFATEF
  INMDGIIVLTRLVESGTKLLSHYSEMLAFTLTAFLELMDHGIVSWDMVSITFIKQIAGYV
  SQPMVDVSILQRSLAILESMVLNSQSLYQKIAEEITVGQLISHLQVSNQEIQTYAIALIN
  ALFLKAPEDKRQDMANAFAQKHLRSIILNHVIRGNRPIKTEMAHQLYVLQVLTFNLLEER
  MMTKMDPNDQAQRDIIFELRRIAFDAESDPSNAPGSGTEKRKAMYTKDYKMLGFTNHINP
  AMDFTQTPPGMLALDNMLYLAKVHQDTYIRIVLENSSREDKHECPFGRSAIELTKMLCEI
  LQVGELPNEGRNDYHPMFFTHDRAFEELFGICIQLLNKTWKEMRATAEDFNKVMQVVREQ
  ITRALPSKPNSLDQFKSKLRSLSYSEILRLRQSERMSQDDFQSPPIVELREKIQPEILEL
  IKQQRLNRLCEGSSFRKIGNRRRQERFWYCRLALNHKVLHYGDLDDNPQGEVTFESLQEK
  IPVADIKAIVTGKDCPHMKEKSALKQNKEVLELAFSILYDPDETLNFIAPNKYEYCIWID
  GLSALLGKDMSSELTKSDLDTLLSMEMKLRLLDLENIQIPEAPPPIPKEPSSYDFVYHYG
  

• Sequence length: 720

Pathways

KEGG:

Bacterial invasion of epithelial cells
Shigellosis
Salmonella infection
Yersinia infection

Reactome:

Regulation of actin dynamics for phagocytic cup formation
VEGFA-VEGFR2 Pathway
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
FCGR3A-mediated phagocytosis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, 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, rs80356663, 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, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, 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, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, 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, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, 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, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hearing loss	Conductive 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
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
Intraosseous venous malformation	Primary intraosseous venous malformation	rs768410753, rs886037918, rs886037919, rs1568748859

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital exomphalos	Congenital exomphalos
Hyperkeratosis	Hyperkeratosis
Hypochromic anemia	Hypochromic anemia
Proptosis	Exophthalmos
Ramon syndrome	Ramon Syndrome		29095483