SNX3 (sorting nexin 3)

Gene

• Entrez ID: 8724
• Gene name: Sorting nexin 3
• Gene symbol: SNX3
• Synonyms (NCBI Gene): Grd19, MCOPS8, SDP3
• Disease Acronyms (UniProt): MCOPS8
• Chromosome: 6
• Chromosome location: 6q21
• Summary: This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028575	hsa-miR-30a-5p	Proteomics	18668040
MIRT047345	hsa-miR-34a-5p	CLASH	23622248
MIRT699071	hsa-miR-1323	HITS-CLIP	23313552
MIRT699070	hsa-miR-548o-3p	HITS-CLIP	23313552
MIRT532400	hsa-miR-1276	PAR-CLIP	22012620
MIRT532398	hsa-miR-3120-3p	PAR-CLIP	22012620
MIRT532397	hsa-miR-451b	PAR-CLIP	22012620
MIRT532395	hsa-miR-3652	PAR-CLIP	22012620
MIRT532396	hsa-miR-4430	PAR-CLIP	22012620
MIRT532394	hsa-miR-190a-3p	PAR-CLIP	22012620
MIRT532392	hsa-miR-6083	PAR-CLIP	22012620
MIRT532393	hsa-miR-7151-3p	PAR-CLIP	22012620
MIRT699071	hsa-miR-1323	HITS-CLIP	23313552
MIRT699070	hsa-miR-548o-3p	HITS-CLIP	23313552
MIRT532400	hsa-miR-1276	PAR-CLIP	22012620
MIRT532398	hsa-miR-3120-3p	PAR-CLIP	22012620
MIRT532397	hsa-miR-451b	PAR-CLIP	22012620
MIRT532395	hsa-miR-3652	PAR-CLIP	22012620
MIRT532396	hsa-miR-4430	PAR-CLIP	22012620
MIRT532394	hsa-miR-190a-3p	PAR-CLIP	22012620
MIRT532392	hsa-miR-6083	PAR-CLIP	22012620
MIRT532393	hsa-miR-7151-3p	PAR-CLIP	22012620
MIRT1378100	hsa-miR-103a	CLIP-seq
MIRT1378101	hsa-miR-107	CLIP-seq
MIRT1378102	hsa-miR-1245b-3p	CLIP-seq
MIRT1378103	hsa-miR-1248	CLIP-seq
MIRT1378104	hsa-miR-1294	CLIP-seq
MIRT1378105	hsa-miR-129-5p	CLIP-seq
MIRT1378106	hsa-miR-19a	CLIP-seq
MIRT1378107	hsa-miR-19b	CLIP-seq
MIRT1378108	hsa-miR-2467-5p	CLIP-seq
MIRT1378109	hsa-miR-3127-3p	CLIP-seq
MIRT1378110	hsa-miR-3140-3p	CLIP-seq
MIRT1378111	hsa-miR-3144-3p	CLIP-seq
MIRT1378112	hsa-miR-3158-5p	CLIP-seq
MIRT1378113	hsa-miR-3188	CLIP-seq
MIRT1378114	hsa-miR-3667-5p	CLIP-seq
MIRT1378115	hsa-miR-3907	CLIP-seq
MIRT1378116	hsa-miR-3910	CLIP-seq
MIRT1378117	hsa-miR-3944-5p	CLIP-seq
MIRT1378118	hsa-miR-3975	CLIP-seq
MIRT1378119	hsa-miR-410	CLIP-seq
MIRT1378120	hsa-miR-412	CLIP-seq
MIRT1378121	hsa-miR-4316	CLIP-seq
MIRT1378122	hsa-miR-4418	CLIP-seq
MIRT1378123	hsa-miR-4420	CLIP-seq
MIRT1378124	hsa-miR-4464	CLIP-seq
MIRT1378125	hsa-miR-4493	CLIP-seq
MIRT1378126	hsa-miR-4652-3p	CLIP-seq
MIRT1378127	hsa-miR-4696	CLIP-seq
MIRT1378128	hsa-miR-4705	CLIP-seq
MIRT1378129	hsa-miR-4748	CLIP-seq
MIRT1378130	hsa-miR-4749-3p	CLIP-seq
MIRT1378131	hsa-miR-4778-3p	CLIP-seq
MIRT1378132	hsa-miR-4789-5p	CLIP-seq
MIRT1378133	hsa-miR-485-5p	CLIP-seq
MIRT1378134	hsa-miR-509-3-5p	CLIP-seq
MIRT1378135	hsa-miR-509-5p	CLIP-seq
MIRT1378136	hsa-miR-513a-3p	CLIP-seq
MIRT1378137	hsa-miR-548a-3p	CLIP-seq
MIRT1378138	hsa-miR-548ae	CLIP-seq
MIRT1378139	hsa-miR-548aj	CLIP-seq
MIRT1378140	hsa-miR-548am	CLIP-seq
MIRT1378141	hsa-miR-548e	CLIP-seq
MIRT1378142	hsa-miR-548f	CLIP-seq
MIRT1378143	hsa-miR-548g	CLIP-seq
MIRT1378144	hsa-miR-548n	CLIP-seq
MIRT1378145	hsa-miR-548q	CLIP-seq
MIRT1378146	hsa-miR-548t	CLIP-seq
MIRT1378147	hsa-miR-548x	CLIP-seq
MIRT1378148	hsa-miR-633	CLIP-seq
MIRT1378149	hsa-miR-648	CLIP-seq
MIRT1378150	hsa-miR-758	CLIP-seq
MIRT1378151	hsa-miR-767-5p	CLIP-seq
MIRT1378106	hsa-miR-19a	CLIP-seq
MIRT1378107	hsa-miR-19b	CLIP-seq
MIRT1378114	hsa-miR-3667-5p	CLIP-seq
MIRT1378152	hsa-miR-4676-5p	CLIP-seq
MIRT1378137	hsa-miR-548a-3p	CLIP-seq
MIRT1378138	hsa-miR-548ae	CLIP-seq
MIRT1378139	hsa-miR-548aj	CLIP-seq
MIRT1378140	hsa-miR-548am	CLIP-seq
MIRT1378141	hsa-miR-548e	CLIP-seq
MIRT1378142	hsa-miR-548f	CLIP-seq
MIRT1378143	hsa-miR-548g	CLIP-seq
MIRT1378147	hsa-miR-548x	CLIP-seq
MIRT1378153	hsa-miR-575	CLIP-seq
MIRT1378108	hsa-miR-2467-5p	CLIP-seq
MIRT1378113	hsa-miR-3188	CLIP-seq
MIRT1378118	hsa-miR-3975	CLIP-seq
MIRT1378121	hsa-miR-4316	CLIP-seq
MIRT1378133	hsa-miR-485-5p	CLIP-seq
MIRT1378149	hsa-miR-648	CLIP-seq
MIRT1378151	hsa-miR-767-5p	CLIP-seq
MIRT1378104	hsa-miR-1294	CLIP-seq
MIRT1378106	hsa-miR-19a	CLIP-seq
MIRT1378107	hsa-miR-19b	CLIP-seq
MIRT1378108	hsa-miR-2467-5p	CLIP-seq
MIRT1378112	hsa-miR-3158-5p	CLIP-seq
MIRT1378113	hsa-miR-3188	CLIP-seq
MIRT1378114	hsa-miR-3667-5p	CLIP-seq
MIRT1378118	hsa-miR-3975	CLIP-seq
MIRT1378121	hsa-miR-4316	CLIP-seq
MIRT1378122	hsa-miR-4418	CLIP-seq
MIRT1378124	hsa-miR-4464	CLIP-seq
MIRT1378152	hsa-miR-4676-5p	CLIP-seq
MIRT1378127	hsa-miR-4696	CLIP-seq
MIRT1378128	hsa-miR-4705	CLIP-seq
MIRT1378129	hsa-miR-4748	CLIP-seq
MIRT1378133	hsa-miR-485-5p	CLIP-seq
MIRT1378134	hsa-miR-509-3-5p	CLIP-seq
MIRT1378135	hsa-miR-509-5p	CLIP-seq
MIRT1378137	hsa-miR-548a-3p	CLIP-seq
MIRT1378138	hsa-miR-548ae	CLIP-seq
MIRT1378139	hsa-miR-548aj	CLIP-seq
MIRT1378140	hsa-miR-548am	CLIP-seq
MIRT1378141	hsa-miR-548e	CLIP-seq
MIRT1378142	hsa-miR-548f	CLIP-seq
MIRT1378143	hsa-miR-548g	CLIP-seq
MIRT1378147	hsa-miR-548x	CLIP-seq
MIRT1378153	hsa-miR-575	CLIP-seq
MIRT1378149	hsa-miR-648	CLIP-seq
MIRT1378150	hsa-miR-758	CLIP-seq
MIRT1378151	hsa-miR-767-5p	CLIP-seq
MIRT1378100	hsa-miR-103a	CLIP-seq
MIRT1378101	hsa-miR-107	CLIP-seq
MIRT1378102	hsa-miR-1245b-3p	CLIP-seq
MIRT1378104	hsa-miR-1294	CLIP-seq
MIRT1378108	hsa-miR-2467-5p	CLIP-seq
MIRT1378111	hsa-miR-3144-3p	CLIP-seq
MIRT1378112	hsa-miR-3158-5p	CLIP-seq
MIRT2335706	hsa-miR-3179	CLIP-seq
MIRT1378113	hsa-miR-3188	CLIP-seq
MIRT2335707	hsa-miR-3607-5p	CLIP-seq
MIRT2335708	hsa-miR-3611	CLIP-seq
MIRT1378117	hsa-miR-3944-5p	CLIP-seq
MIRT1378118	hsa-miR-3975	CLIP-seq
MIRT1378121	hsa-miR-4316	CLIP-seq
MIRT1378122	hsa-miR-4418	CLIP-seq
MIRT1378124	hsa-miR-4464	CLIP-seq
MIRT1378126	hsa-miR-4652-3p	CLIP-seq
MIRT1378127	hsa-miR-4696	CLIP-seq
MIRT1378128	hsa-miR-4705	CLIP-seq
MIRT2335709	hsa-miR-4716-5p	CLIP-seq
MIRT1378129	hsa-miR-4748	CLIP-seq
MIRT1378133	hsa-miR-485-5p	CLIP-seq
MIRT1378134	hsa-miR-509-3-5p	CLIP-seq
MIRT1378135	hsa-miR-509-5p	CLIP-seq
MIRT1378137	hsa-miR-548a-3p	CLIP-seq
MIRT1378141	hsa-miR-548e	CLIP-seq
MIRT1378142	hsa-miR-548f	CLIP-seq
MIRT1378144	hsa-miR-548n	CLIP-seq
MIRT1378146	hsa-miR-548t	CLIP-seq
MIRT1378148	hsa-miR-633	CLIP-seq
MIRT1378149	hsa-miR-648	CLIP-seq
MIRT1378150	hsa-miR-758	CLIP-seq
MIRT1378100	hsa-miR-103a	CLIP-seq
MIRT1378101	hsa-miR-107	CLIP-seq
MIRT1378102	hsa-miR-1245b-3p	CLIP-seq
MIRT1378106	hsa-miR-19a	CLIP-seq
MIRT1378107	hsa-miR-19b	CLIP-seq
MIRT1378111	hsa-miR-3144-3p	CLIP-seq
MIRT2629838	hsa-miR-3152-3p	CLIP-seq
MIRT2629839	hsa-miR-3153	CLIP-seq
MIRT2629840	hsa-miR-3659	CLIP-seq
MIRT1378114	hsa-miR-3667-5p	CLIP-seq
MIRT1378116	hsa-miR-3910	CLIP-seq
MIRT2629841	hsa-miR-3913-3p	CLIP-seq
MIRT1378117	hsa-miR-3944-5p	CLIP-seq
MIRT2629842	hsa-miR-4311	CLIP-seq
MIRT1378125	hsa-miR-4493	CLIP-seq
MIRT2629843	hsa-miR-4643	CLIP-seq
MIRT1378126	hsa-miR-4652-3p	CLIP-seq
MIRT2629844	hsa-miR-4658	CLIP-seq
MIRT2629845	hsa-miR-466	CLIP-seq
MIRT1378152	hsa-miR-4676-5p	CLIP-seq
MIRT2629846	hsa-miR-4694-3p	CLIP-seq
MIRT1378127	hsa-miR-4696	CLIP-seq
MIRT2629847	hsa-miR-4716-3p	CLIP-seq
MIRT2629848	hsa-miR-4719	CLIP-seq
MIRT2629849	hsa-miR-4724-5p	CLIP-seq
MIRT2629850	hsa-miR-4789-3p	CLIP-seq
MIRT2629851	hsa-miR-489	CLIP-seq
MIRT2629852	hsa-miR-499-3p	CLIP-seq
MIRT2629853	hsa-miR-499a-3p	CLIP-seq
MIRT2629854	hsa-miR-522	CLIP-seq
MIRT2629855	hsa-miR-539	CLIP-seq
MIRT1378137	hsa-miR-548a-3p	CLIP-seq
MIRT1378138	hsa-miR-548ae	CLIP-seq
MIRT1378139	hsa-miR-548aj	CLIP-seq
MIRT1378140	hsa-miR-548am	CLIP-seq
MIRT1378141	hsa-miR-548e	CLIP-seq
MIRT1378142	hsa-miR-548f	CLIP-seq
MIRT1378143	hsa-miR-548g	CLIP-seq
MIRT2629856	hsa-miR-548o	CLIP-seq
MIRT1378147	hsa-miR-548x	CLIP-seq
MIRT2629857	hsa-miR-574-5p	CLIP-seq
MIRT1378153	hsa-miR-575	CLIP-seq
MIRT2629858	hsa-miR-615-5p	CLIP-seq
MIRT2629859	hsa-miR-625	CLIP-seq
MIRT1378100	hsa-miR-103a	CLIP-seq
MIRT1378101	hsa-miR-107	CLIP-seq
MIRT1378102	hsa-miR-1245b-3p	CLIP-seq
MIRT1378106	hsa-miR-19a	CLIP-seq
MIRT1378107	hsa-miR-19b	CLIP-seq
MIRT1378111	hsa-miR-3144-3p	CLIP-seq
MIRT2629838	hsa-miR-3152-3p	CLIP-seq
MIRT2629839	hsa-miR-3153	CLIP-seq
MIRT2629840	hsa-miR-3659	CLIP-seq
MIRT1378114	hsa-miR-3667-5p	CLIP-seq
MIRT1378116	hsa-miR-3910	CLIP-seq
MIRT2629841	hsa-miR-3913-3p	CLIP-seq
MIRT1378117	hsa-miR-3944-5p	CLIP-seq
MIRT2629842	hsa-miR-4311	CLIP-seq
MIRT1378125	hsa-miR-4493	CLIP-seq
MIRT1378126	hsa-miR-4652-3p	CLIP-seq
MIRT2629844	hsa-miR-4658	CLIP-seq
MIRT1378152	hsa-miR-4676-5p	CLIP-seq
MIRT1378127	hsa-miR-4696	CLIP-seq
MIRT2629847	hsa-miR-4716-3p	CLIP-seq
MIRT2629848	hsa-miR-4719	CLIP-seq
MIRT2629849	hsa-miR-4724-5p	CLIP-seq
MIRT2629851	hsa-miR-489	CLIP-seq
MIRT2629852	hsa-miR-499-3p	CLIP-seq
MIRT2629853	hsa-miR-499a-3p	CLIP-seq
MIRT2629855	hsa-miR-539	CLIP-seq
MIRT1378137	hsa-miR-548a-3p	CLIP-seq
MIRT1378138	hsa-miR-548ae	CLIP-seq
MIRT1378139	hsa-miR-548aj	CLIP-seq
MIRT1378140	hsa-miR-548am	CLIP-seq
MIRT1378141	hsa-miR-548e	CLIP-seq
MIRT1378142	hsa-miR-548f	CLIP-seq
MIRT1378143	hsa-miR-548g	CLIP-seq
MIRT2629856	hsa-miR-548o	CLIP-seq
MIRT1378147	hsa-miR-548x	CLIP-seq
MIRT2629857	hsa-miR-574-5p	CLIP-seq
MIRT1378153	hsa-miR-575	CLIP-seq
MIRT2629859	hsa-miR-625	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17474147, 21725319, 22719997, 24344282, 25416956, 32296183
GO:0005737	Component	Cytoplasm	IDA	11279102
GO:0005769	Component	Early endosome	IDA	11433298, 18767904, 22719997
GO:0005829	Component	Cytosol	IDA	9819414
GO:0005829	Component	Cytosol	TAS
GO:0009617	Process	Response to bacterium	IDA	20482551
GO:0010008	Component	Endosome membrane	IDA	15673616
GO:0010008	Component	Endosome membrane	TAS
GO:0010314	Function	Phosphatidylinositol-5-phosphate binding	ISS
GO:0010324	Process	Membrane invagination	IDA	18767904
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0015031	Process	Protein transport	IEA
GO:0016055	Process	Wnt signaling pathway	TAS
GO:0016579	Process	Protein deubiquitination	TAS
GO:0019903	Function	Protein phosphatase binding	IPI	17622474
GO:0022615	Process	Protein to membrane docking	IDA	24344282
GO:0030111	Process	Regulation of Wnt signaling pathway	IMP	21725319
GO:0030136	Component	Clathrin-coated vesicle	IDA	21725319
GO:0030904	Component	Retromer complex	IDA	21725319, 24344282
GO:0031901	Component	Early endosome membrane	IBA	21873635
GO:0031901	Component	Early endosome membrane	IDA	18767904
GO:0032009	Component	Early phagosome	IDA	23237080
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IBA	21873635
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IDA	11433298
GO:0032456	Process	Endocytic recycling	IBA	21873635
GO:0034499	Process	Late endosome to Golgi transport	IBA	21873635
GO:0042177	Process	Negative regulation of protein catabolic process	IDA	18767904
GO:0046597	Process	Negative regulation of viral entry into host cell	IDA	18767904
GO:0050765	Process	Negative regulation of phagocytosis	IMP	23237080
GO:0051224	Process	Negative regulation of protein transport	IDA	18767904
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070273	Function	Phosphatidylinositol-4-phosphate binding	ISS
GO:0070676	Process	Intralumenal vesicle formation	IMP	18767904
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	ISS
GO:2000642	Process	Negative regulation of early endosome to late endosome transport	IDA	18767904

Other IDs

• MIM: 605930
• HGNC: 11174
• e!Ensembl: ENSG00000112335

Protein

• UniProt ID: O60493
• Protein name: Sorting nexin-3 (Protein SDP3)
• Protein function: Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Can also bind phosphatidylinositol 4-phosphate (PtdIns(P4)), phosphatidylinositol 5-phosphate (PtdIns(
• PDB: 2MXC, 2YPS, 5F0J, 5F0L, 5F0M, 5F0P, 7BLO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00787	PX	57 → 148	PX domain	Domain

• Sequence:

  MAETVADTRRLITKPQNLNDAYGPPSNFLEIDVSNPQTVGVGRGRFTTYEIRVKTNLPIF
  KLKESTVRRRYSDFEWLRSELERESKVVVPPLPGKAFLRQLPFRGDDGIFDDNFIEERKQ
  GLEQFINKVAGHPLAQNERCLHMFLQDEIIDKSYTPSKIRHA

• Sequence length: 162

Pathways

KEGG:

Endocytosis

Reactome:

WNT ligand biogenesis and trafficking
Ub-specific processing proteases

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
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	12471201
Syndromic microphthalmia	MICROPHTHALMIA, SYNDROMIC 8	rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457, rs786205884, rs786205224, rs869025222, rs869025221, rs886037853, rs755000701, rs1243762658, rs1555350223, rs1555350156, rs1553637470, rs1566622571, rs1603289774, rs1603289772, rs1579099615, rs1594952111, rs1575553528, rs1575553547, rs1594952007, rs1701696937	12471201

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	22673115, 29414832
Breast Neoplasms	Associate	34718348, 36843602
Dementia	Associate	34321086
Ectrodactyly	Associate	19223930
Microcephaly	Associate	12471201
Microcephaly microphthalmia ectrodactyly of lower limbs and prognathism	Associate	12471201, 17655765
Microphthalmos	Associate	12471201
Microsatellite Instability	Associate	35715463
Neoplasm Metastasis	Associate	34718348
Neoplasms	Associate	34437390, 34718348, 35715463
Prognathism	Associate	12471201
Stomach Neoplasms	Associate	35715463
Triple Negative Breast Neoplasms	Associate	34718348