ADAM22 (ADAM metallopeptidase domain 22)

Gene

• Entrez ID: 53616
• Gene name: ADAM metallopeptidase domain 22
• Gene symbol: ADAM22
• Synonyms (NCBI Gene): ADAM 22, DEE61, EIEE61, MDC2
• Disease Acronyms (UniProt): DEE61
• Chromosome: 7
• Chromosome location: 7q21.12
• Summary: This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs747259064	G>A,T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT716863	hsa-miR-6782-3p	HITS-CLIP	19536157
MIRT721421	hsa-miR-4712-5p	HITS-CLIP	19536157
MIRT721420	hsa-miR-770-5p	HITS-CLIP	19536157
MIRT716862	hsa-miR-4716-5p	HITS-CLIP	19536157
MIRT716861	hsa-miR-5701	HITS-CLIP	19536157
MIRT716860	hsa-miR-5581-3p	HITS-CLIP	19536157
MIRT716859	hsa-miR-624-5p	HITS-CLIP	19536157
MIRT716863	hsa-miR-6782-3p	HITS-CLIP	19536157
MIRT716862	hsa-miR-4716-5p	HITS-CLIP	19536157
MIRT716861	hsa-miR-5701	HITS-CLIP	19536157
MIRT716860	hsa-miR-5581-3p	HITS-CLIP	19536157
MIRT716859	hsa-miR-624-5p	HITS-CLIP	19536157
MIRT444959	hsa-miR-451b	PAR-CLIP	22100165
MIRT444958	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT444959	hsa-miR-451b	PAR-CLIP	22100165
MIRT444958	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT716863	hsa-miR-6782-3p	HITS-CLIP	19536157
MIRT721421	hsa-miR-4712-5p	HITS-CLIP	19536157
MIRT721420	hsa-miR-770-5p	HITS-CLIP	19536157
MIRT716862	hsa-miR-4716-5p	HITS-CLIP	19536157
MIRT716861	hsa-miR-5701	HITS-CLIP	19536157
MIRT716860	hsa-miR-5581-3p	HITS-CLIP	19536157
MIRT716859	hsa-miR-624-5p	HITS-CLIP	19536157
MIRT716863	hsa-miR-6782-3p	HITS-CLIP	19536157
MIRT716862	hsa-miR-4716-5p	HITS-CLIP	19536157
MIRT716861	hsa-miR-5701	HITS-CLIP	19536157
MIRT716860	hsa-miR-5581-3p	HITS-CLIP	19536157
MIRT716859	hsa-miR-624-5p	HITS-CLIP	19536157
MIRT444959	hsa-miR-451b	PAR-CLIP	22100165
MIRT444958	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT444959	hsa-miR-451b	PAR-CLIP	22100165
MIRT444958	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT766076	hsa-miR-122	CLIP-seq
MIRT766077	hsa-miR-3117-5p	CLIP-seq
MIRT766078	hsa-miR-3198	CLIP-seq
MIRT766079	hsa-miR-4309	CLIP-seq
MIRT766080	hsa-miR-432	CLIP-seq
MIRT766081	hsa-miR-4686	CLIP-seq
MIRT766082	hsa-miR-4699-3p	CLIP-seq
MIRT766083	hsa-miR-4720-3p	CLIP-seq
MIRT766084	hsa-miR-4775	CLIP-seq
MIRT766085	hsa-miR-4804-3p	CLIP-seq
MIRT766086	hsa-miR-514	CLIP-seq
MIRT766087	hsa-miR-514b-3p	CLIP-seq
MIRT766088	hsa-miR-519e	CLIP-seq
MIRT766089	hsa-miR-587	CLIP-seq
MIRT766090	hsa-miR-885-5p	CLIP-seq
MIRT766091	hsa-miR-1185	CLIP-seq
MIRT766092	hsa-miR-1193	CLIP-seq
MIRT766093	hsa-miR-1243	CLIP-seq
MIRT766094	hsa-miR-1255a	CLIP-seq
MIRT766095	hsa-miR-1255b	CLIP-seq
MIRT766096	hsa-miR-1265	CLIP-seq
MIRT766097	hsa-miR-219-5p	CLIP-seq
MIRT766098	hsa-miR-3134	CLIP-seq
MIRT766099	hsa-miR-3143	CLIP-seq
MIRT766100	hsa-miR-3180-5p	CLIP-seq
MIRT766101	hsa-miR-3182	CLIP-seq
MIRT766102	hsa-miR-324-5p	CLIP-seq
MIRT766103	hsa-miR-3605-5p	CLIP-seq
MIRT766104	hsa-miR-3663-5p	CLIP-seq
MIRT766105	hsa-miR-3679-5p	CLIP-seq
MIRT766106	hsa-miR-375	CLIP-seq
MIRT766107	hsa-miR-3910	CLIP-seq
MIRT766108	hsa-miR-4270	CLIP-seq
MIRT766109	hsa-miR-4273	CLIP-seq
MIRT766110	hsa-miR-4441	CLIP-seq
MIRT766111	hsa-miR-4445	CLIP-seq
MIRT766112	hsa-miR-448	CLIP-seq
MIRT766113	hsa-miR-4484	CLIP-seq
MIRT766114	hsa-miR-452	CLIP-seq
MIRT766115	hsa-miR-455-5p	CLIP-seq
MIRT766116	hsa-miR-4666-3p	CLIP-seq
MIRT766117	hsa-miR-4671-5p	CLIP-seq
MIRT766118	hsa-miR-4676-3p	CLIP-seq
MIRT766119	hsa-miR-4677-5p	CLIP-seq
MIRT766120	hsa-miR-4685-5p	CLIP-seq
MIRT766121	hsa-miR-4693-5p	CLIP-seq
MIRT766122	hsa-miR-4699-5p	CLIP-seq
MIRT766123	hsa-miR-4709-3p	CLIP-seq
MIRT766124	hsa-miR-4738-3p	CLIP-seq
MIRT766125	hsa-miR-4764-5p	CLIP-seq
MIRT766126	hsa-miR-4782-3p	CLIP-seq
MIRT766127	hsa-miR-4803	CLIP-seq
MIRT766128	hsa-miR-508-3p	CLIP-seq
MIRT766129	hsa-miR-522	CLIP-seq
MIRT766130	hsa-miR-544	CLIP-seq
MIRT766131	hsa-miR-548ag	CLIP-seq
MIRT766132	hsa-miR-548ai	CLIP-seq
MIRT766133	hsa-miR-548an	CLIP-seq
MIRT766134	hsa-miR-550a	CLIP-seq
MIRT766135	hsa-miR-576-3p	CLIP-seq
MIRT766136	hsa-miR-582-5p	CLIP-seq
MIRT766137	hsa-miR-656	CLIP-seq
MIRT766138	hsa-miR-758	CLIP-seq
MIRT766090	hsa-miR-885-5p	CLIP-seq
MIRT766139	hsa-miR-936	CLIP-seq
MIRT1925741	hsa-miR-142-5p	CLIP-seq
MIRT1925742	hsa-miR-194	CLIP-seq
MIRT1925743	hsa-miR-30a	CLIP-seq
MIRT1925744	hsa-miR-30b	CLIP-seq
MIRT1925745	hsa-miR-30c	CLIP-seq
MIRT1925746	hsa-miR-30d	CLIP-seq
MIRT1925747	hsa-miR-30e	CLIP-seq
MIRT1925748	hsa-miR-3117-3p	CLIP-seq
MIRT1925749	hsa-miR-3119	CLIP-seq
MIRT1925750	hsa-miR-3123	CLIP-seq
MIRT1925751	hsa-miR-3140-5p	CLIP-seq
MIRT1925752	hsa-miR-3144-3p	CLIP-seq
MIRT1925753	hsa-miR-3155	CLIP-seq
MIRT1925754	hsa-miR-3155b	CLIP-seq
MIRT1925755	hsa-miR-3163	CLIP-seq
MIRT766102	hsa-miR-324-5p	CLIP-seq
MIRT1925756	hsa-miR-340	CLIP-seq
MIRT1925757	hsa-miR-3616-5p	CLIP-seq
MIRT1925758	hsa-miR-3647-5p	CLIP-seq
MIRT1925759	hsa-miR-4328	CLIP-seq
MIRT1925760	hsa-miR-4793-5p	CLIP-seq
MIRT766127	hsa-miR-4803	CLIP-seq
MIRT1925761	hsa-miR-484	CLIP-seq
MIRT1925762	hsa-miR-548aa	CLIP-seq
MIRT1925763	hsa-miR-548k	CLIP-seq
MIRT1925764	hsa-miR-548n	CLIP-seq
MIRT1925765	hsa-miR-548t	CLIP-seq
MIRT1925766	hsa-miR-573	CLIP-seq
MIRT1925767	hsa-miR-651	CLIP-seq
MIRT1925768	hsa-miR-875-5p	CLIP-seq
MIRT2167111	hsa-miR-1246	CLIP-seq
MIRT1925743	hsa-miR-30a	CLIP-seq
MIRT1925744	hsa-miR-30b	CLIP-seq
MIRT1925745	hsa-miR-30c	CLIP-seq
MIRT1925746	hsa-miR-30d	CLIP-seq
MIRT1925747	hsa-miR-30e	CLIP-seq
MIRT1925755	hsa-miR-3163	CLIP-seq
MIRT1925757	hsa-miR-3616-5p	CLIP-seq
MIRT1925758	hsa-miR-3647-5p	CLIP-seq
MIRT1925759	hsa-miR-4328	CLIP-seq
MIRT2167112	hsa-miR-4646-3p	CLIP-seq
MIRT1925764	hsa-miR-548n	CLIP-seq
MIRT1925765	hsa-miR-548t	CLIP-seq
MIRT1925766	hsa-miR-573	CLIP-seq
MIRT2443145	hsa-miR-1261	CLIP-seq
MIRT1925755	hsa-miR-3163	CLIP-seq
MIRT2443146	hsa-miR-3646	CLIP-seq
MIRT2443147	hsa-miR-3662	CLIP-seq
MIRT2469678	hsa-miR-1	CLIP-seq
MIRT2469679	hsa-miR-1272	CLIP-seq
MIRT2469680	hsa-miR-1277	CLIP-seq
MIRT2469681	hsa-miR-206	CLIP-seq
MIRT2469682	hsa-miR-3673	CLIP-seq
MIRT2469683	hsa-miR-3682-3p	CLIP-seq
MIRT2469684	hsa-miR-3914	CLIP-seq
MIRT2469685	hsa-miR-4802-3p	CLIP-seq
MIRT2469686	hsa-miR-613	CLIP-seq
MIRT2674402	hsa-miR-203	CLIP-seq
MIRT2674403	hsa-miR-433	CLIP-seq
MIRT766127	hsa-miR-4803	CLIP-seq
MIRT2674404	hsa-miR-579	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005178	Function	Integrin binding	NAS	9693107
GO:0005515	Function	Protein binding	IPI	12589811, 20463223, 24550280, 27066583, 30126976
GO:0005886	Component	Plasma membrane	IDA	27066583
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007162	Process	Negative regulation of cell adhesion	NAS	9693107
GO:0007417	Process	Central nervous system development	TAS	9693107
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0016021	Component	Integral component of membrane	ISS
GO:0016021	Component	Integral component of membrane	NAS	9693107
GO:0022011	Process	Myelination in peripheral nervous system	IEA
GO:0030424	Component	Axon	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099061	Component	Integral component of postsynaptic density membrane	IBA	21873635
GO:0099645	Process	Neurotransmitter receptor localization to postsynaptic specialization membrane	IEA

Other IDs

• MIM: 603709
• HGNC: 201
• e!Ensembl: ENSG00000008277

Protein

• UniProt ID: Q9P0K1
• Protein name: Disintegrin and metalloproteinase domain-containing protein 22 (ADAM 22) (Metalloproteinase-disintegrin ADAM22-3) (Metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2)
• Protein function: Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein (PubMed:19692335). Involved in regulation of cell adhesion and spreading and in inhibition of cell proliferation. Neuronal receptor for LGI1. {ECO:00
• PDB: 3G5C, 5Y2Z, 5Y31, 7CQF, 8HPY, 8HQ1, 8HQ2, 8Y6B
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01562	Pep_M12B_propep	41 → 188	Reprolysin family propeptide	Family
  PF01421	Reprolysin	239 → 438	Reprolysin (M12B) family zinc metalloprotease	Domain
  PF00200	Disintegrin	453 → 526	Disintegrin	Domain
  PF08516	ADAM_CR	531 → 649	ADAM cysteine-rich	Family
  PF07974	EGF_2	679 → 711	EGF-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in the brain and in some high-grade but not low-grade gliomas. Detected slightly or not at all in other tissues. {ECO:0000269|PubMed:16385342}.
• Sequence:

  MQAAVAVSVPFLLLCVLGTCPPARCGQAGDASLMELEKRKENRFVERQSIVPLRLIYRSG
  GEDESRHDALDTRVRGDLGGPQLTHVDQASFQVDAFGTSFILDVVLNHDLLSSEYIERHI
  EHGGKTVEVKGGEHCYYQGHIRGNPDSFVALSTCHGLHGMFYDGNHTYLIEPEENDTTQE
  DFHFHSVYKSRLFEFSLDDLPSEFQQVNITPSKFILKPRPKRSKRQLRRYPRNVEEETKY
  IELMIVNDHLMFKKHRLSVVHTNTYAKSVVNMADLIYKDQLKTRIVLVAMETWATDNKFA
  ISENPLITLREFMKYRRDFIKEKSDAVHLFSGSQFESSRSGAAYIGGICSLLKGGGVNEF
  GKTDLMAVTLAQSLAHNIGIISDKRKLASGECKCEDTWSGCIMGDTGYYLPKKFTQCNIE
  EYHDFLNSGGGACLFNKPSKLLDPPECGNGFIETGEECDCGTPAECVLEGAECCKKCTLT
  QDSQCSDGLCCKKCKFQPMGTVCREAVNDCDIRETCSGNSSQCAPNIHKMDGYSCDGVQG
  ICFGGRCKTRDRQCKYIWGQKVTASDKYCYEKLNIEGTEKGNCGKDKDTWIQCNKRDVLC
  GYLLCTNIGNIPRLGELDGEITSTLVVQQGRTLNCSGGHVKLEEDVDLGYVEDGTPCGPQ
  MMCLEHRCLPVASFNFSTCLSSKEGTICSGNGVCSNELKCVCNRHWIGSDCNTYFPHNDD
  AKTGITLSGNGVAGTNIIIGIIAGTILVLALILGITAWGYKNYREQRQLPQGDYVKKPGD
  GDSFYSDIPPGVSTNSASSSKKRSNGLSHSWSERIPDTKHISDICENGRPRSNSWQGNLG
  GNKKKIRGKRFRPRSNSTETLSPAKSPSSSTGSIASSRKYPYPMPPLPDEDKKVNRQSAR
  LWETSI

• Sequence length: 906

Pathways

Reactome:

LGI-ADAM interactions

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Epileptic encephalopathy	Epileptic encephalopathy, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325	30237576, 27066583
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

Associations from Text Mining
Disease Name	Relationship Type	References
Brain Diseases	Associate	35373813
Breast Neoplasms	Associate	30278449
Callosities	Associate	35373813
Drug Resistant Epilepsy	Associate	35373813
Epileptic Encephalopathy Early Infantile 4	Associate	35373813
Glioblastoma	Associate	38019838
Glioma	Associate	11050470
Immunologic Deficiency Syndromes	Associate	35373813
Inflammation	Associate	29272336
Insulin Resistance	Associate	26672043
Lymphoma	Associate	34166375
Nasal Polyps	Associate	28574651
Nasopharyngeal Carcinoma	Stimulate	38518731
Neoplasm Metastasis	Associate	38518731
Neoplasms	Associate	11050470
Ovarian Diseases	Associate	25298284
Pulmonary Disease Chronic Obstructive	Associate	19729666