SRPX2 (sushi repeat containing protein X-linked 2)

Gene

• Entrez ID: 27286
• Gene name: Sushi repeat containing protein X-linked 2
• Gene symbol: SRPX2
• Synonyms (NCBI Gene): BPP, CBPS, PMGX, RESDX, SRPUL
• Disease Acronyms (UniProt): RESDX
• Chromosome: X
• Chromosome location: Xq22.1
• Summary: This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs73636611	C>A,G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs121918363	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs121918364	A>C	Pathogenic	Coding sequence variant, missense variant
rs139377205	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs142719253	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs146051561	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs149051060	C>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, coding sequence variant
rs369663551	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs767072861	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs1556013503	C>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT709925	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT709924	hsa-miR-337-3p	HITS-CLIP	19536157
MIRT709923	hsa-miR-202-5p	HITS-CLIP	19536157
MIRT709922	hsa-miR-3685	HITS-CLIP	19536157
MIRT709921	hsa-miR-384	HITS-CLIP	19536157
MIRT709925	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT709924	hsa-miR-337-3p	HITS-CLIP	19536157
MIRT709923	hsa-miR-202-5p	HITS-CLIP	19536157
MIRT709922	hsa-miR-3685	HITS-CLIP	19536157
MIRT709921	hsa-miR-384	HITS-CLIP	19536157
MIRT653133	hsa-miR-548ao-5p	HITS-CLIP	23824327
MIRT653132	hsa-miR-548ax	HITS-CLIP	23824327
MIRT653131	hsa-miR-5585-5p	HITS-CLIP	23824327
MIRT653130	hsa-miR-8065	HITS-CLIP	23824327
MIRT653129	hsa-miR-623	HITS-CLIP	23824327
MIRT653128	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT653126	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT653127	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT622091	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT622090	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT622089	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT622088	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT622087	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT622086	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT622085	hsa-miR-4486	HITS-CLIP	23824327
MIRT622084	hsa-miR-4708-3p	HITS-CLIP	23824327
MIRT622083	hsa-miR-4252	HITS-CLIP	23824327
MIRT622082	hsa-miR-661	HITS-CLIP	23824327
MIRT622081	hsa-miR-31-5p	HITS-CLIP	23824327
MIRT622080	hsa-miR-3178	HITS-CLIP	23824327
MIRT622079	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT622078	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT622077	hsa-miR-7703	HITS-CLIP	23824327
MIRT622076	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT622075	hsa-miR-145-5p	HITS-CLIP	23824327
MIRT622074	hsa-miR-5195-3p	HITS-CLIP	23824327
MIRT622073	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT516121	hsa-miR-1265	PAR-CLIP	20371350
MIRT516120	hsa-miR-4307	PAR-CLIP	20371350
MIRT516119	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT516118	hsa-miR-2052	PAR-CLIP	20371350
MIRT516117	hsa-miR-19a-5p	PAR-CLIP	20371350
MIRT516116	hsa-miR-19b-1-5p	PAR-CLIP	20371350
MIRT516115	hsa-miR-19b-2-5p	PAR-CLIP	20371350
MIRT516114	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT516121	hsa-miR-1265	PAR-CLIP	23446348
MIRT516120	hsa-miR-4307	PAR-CLIP	23446348
MIRT516119	hsa-miR-3613-3p	PAR-CLIP	23446348
MIRT516118	hsa-miR-2052	PAR-CLIP	23446348
MIRT516117	hsa-miR-19a-5p	PAR-CLIP	23446348
MIRT516116	hsa-miR-19b-1-5p	PAR-CLIP	23446348
MIRT516115	hsa-miR-19b-2-5p	PAR-CLIP	23446348
MIRT516114	hsa-miR-4668-5p	PAR-CLIP	23446348
MIRT709925	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT709924	hsa-miR-337-3p	HITS-CLIP	19536157
MIRT709923	hsa-miR-202-5p	HITS-CLIP	19536157
MIRT709922	hsa-miR-3685	HITS-CLIP	19536157
MIRT709921	hsa-miR-384	HITS-CLIP	19536157
MIRT709925	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT709924	hsa-miR-337-3p	HITS-CLIP	19536157
MIRT709923	hsa-miR-202-5p	HITS-CLIP	19536157
MIRT709922	hsa-miR-3685	HITS-CLIP	19536157
MIRT709921	hsa-miR-384	HITS-CLIP	19536157
MIRT653133	hsa-miR-548ao-5p	HITS-CLIP	23824327
MIRT653132	hsa-miR-548ax	HITS-CLIP	23824327
MIRT653131	hsa-miR-5585-5p	HITS-CLIP	23824327
MIRT653130	hsa-miR-8065	HITS-CLIP	23824327
MIRT653129	hsa-miR-623	HITS-CLIP	23824327
MIRT653128	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT653126	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT653127	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT622091	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT622090	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT622089	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT622088	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT622087	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT622086	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT622085	hsa-miR-4486	HITS-CLIP	23824327
MIRT622084	hsa-miR-4708-3p	HITS-CLIP	23824327
MIRT622083	hsa-miR-4252	HITS-CLIP	23824327
MIRT622082	hsa-miR-661	HITS-CLIP	23824327
MIRT622081	hsa-miR-31-5p	HITS-CLIP	23824327
MIRT622080	hsa-miR-3178	HITS-CLIP	23824327
MIRT622079	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT622078	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT622077	hsa-miR-7703	HITS-CLIP	23824327
MIRT622076	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT622075	hsa-miR-145-5p	HITS-CLIP	23824327
MIRT622074	hsa-miR-5195-3p	HITS-CLIP	23824327
MIRT622073	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT516121	hsa-miR-1265	PAR-CLIP	20371350
MIRT516120	hsa-miR-4307	PAR-CLIP	20371350
MIRT516119	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT516118	hsa-miR-2052	PAR-CLIP	20371350
MIRT516117	hsa-miR-19a-5p	PAR-CLIP	20371350
MIRT516116	hsa-miR-19b-1-5p	PAR-CLIP	20371350
MIRT516115	hsa-miR-19b-2-5p	PAR-CLIP	20371350
MIRT516114	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT516121	hsa-miR-1265	PAR-CLIP	23446348
MIRT516120	hsa-miR-4307	PAR-CLIP	23446348
MIRT516119	hsa-miR-3613-3p	PAR-CLIP	23446348
MIRT516118	hsa-miR-2052	PAR-CLIP	23446348
MIRT516117	hsa-miR-19a-5p	PAR-CLIP	23446348
MIRT516116	hsa-miR-19b-1-5p	PAR-CLIP	23446348
MIRT516115	hsa-miR-19b-2-5p	PAR-CLIP	23446348
MIRT516114	hsa-miR-4668-5p	PAR-CLIP	23446348
MIRT2632938	hsa-miR-1224-3p	CLIP-seq
MIRT2632939	hsa-miR-1238	CLIP-seq
MIRT2632940	hsa-miR-3153	CLIP-seq
MIRT2632941	hsa-miR-4318	CLIP-seq
MIRT2632942	hsa-miR-4421	CLIP-seq
MIRT2632943	hsa-miR-4648	CLIP-seq
MIRT2632944	hsa-miR-4654	CLIP-seq
MIRT2632945	hsa-miR-4691-5p	CLIP-seq
MIRT2632946	hsa-miR-4769-5p	CLIP-seq
MIRT2632947	hsa-miR-570	CLIP-seq
MIRT2632948	hsa-miR-759	CLIP-seq
MIRT2632938	hsa-miR-1224-3p	CLIP-seq
MIRT2632939	hsa-miR-1238	CLIP-seq
MIRT2632940	hsa-miR-3153	CLIP-seq
MIRT2632941	hsa-miR-4318	CLIP-seq
MIRT2632942	hsa-miR-4421	CLIP-seq
MIRT2632943	hsa-miR-4648	CLIP-seq
MIRT2632944	hsa-miR-4654	CLIP-seq
MIRT2632945	hsa-miR-4691-5p	CLIP-seq
MIRT2632946	hsa-miR-4769-5p	CLIP-seq
MIRT2632947	hsa-miR-570	CLIP-seq
MIRT2632948	hsa-miR-759	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXP2	Unknown	20858596;21711233

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0005102	Function	Signaling receptor binding	IPI	18718938
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231
GO:0005515	Function	Protein binding	IPI	18718938
GO:0005615	Component	Extracellular space	IDA	9864177, 22242148
GO:0005737	Component	Cytoplasm	IDA	9864177, 19065654
GO:0009986	Component	Cell surface	ISS
GO:0036458	Function	Hepatocyte growth factor binding	IDA	22242148
GO:0042325	Process	Regulation of phosphorylation	IDA	19065654
GO:0042802	Function	Identical protein binding	IDA	24179158
GO:0048870	Process	Cell motility	IDA	19065654
GO:0051965	Process	Positive regulation of synapse assembly	IDA	24179158
GO:0060076	Component	Excitatory synapse	ISS
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231
GO:0071625	Process	Vocalization behavior	IEA
GO:0090050	Process	Positive regulation of cell migration involved in sprouting angiogenesis	ISS
GO:0097060	Component	Synaptic membrane	ISS
GO:0098609	Process	Cell-cell adhesion	IDA	19065654

Other IDs

• MIM: 300642
• HGNC: 30668
• e!Ensembl: ENSG00000102359

Protein

• UniProt ID: O60687
• Protein name: Sushi repeat-containing protein SRPX2 (Sushi-repeat protein upregulated in leukemia)
• Protein function: Acts as a ligand for the urokinase plasminogen activator surface receptor. Plays a role in angiogenesis by inducing endothelial cell migration and the formation of vascular network (cords). Involved in cellular migration and adhesion. Increases
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00084	Sushi	68 → 117	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	122 → 176	Sushi repeat (SCR repeat)	Domain
  PF02494	HYR	177 → 259	HYR domain	Domain
  PF00084	Sushi	264 → 319	Sushi repeat (SCR repeat)	Domain
  PF13778	DUF4174	334 → 453	Domain of unknown function (DUF4174)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in neurons of the rolandic area of the brain (at protein level). Highly expressed in the brain, placenta, lung, trachea, uterus, adrenal gland, heart, ovary and placenta. Weakly expressed in the peripheral blood, brain and bo
• Sequence:

  MASQLTQRGALFLLFFLTPAVTPTWYAGSGYYPDESYNEVYAEEVPQAPALDYRVPRWCY
  TLNIQDGEATCYSPKGGNYHSSLGTRCELSCDRGFRLIGRRSVQCLPSRRWSGTAYCRQM
  RCHALPFITSGTYTCTNGVLLDSRCDYSCSSGYHLEGDRSRICMEDGRWSGGEPVCVDID
  PPKIRCPHSREKMAEPEKLTARVYWDPPLVKDSADGTITRVTLRGPEPGSHFPEGEHVIR
  YTAYDRAYNRASCKFIVKVQVRRCPTLKPPQHGYLTCTSAGDNYGATCEYHCDGGYDRQG
  TPSRVCQSSRQWSGSPPICAPMKINVNVNSAAGLLDQFYEKQRLLIISAPDPSNRYYKMQ
  ISMLQQSTCGLDLRHVTIIELVGQPPQEVGRIREQQLSANIIEELRQFQRLTRSYFNMVL
  IDKQGIDRDRYMEPVTPEEIFTFIDDYLLSNQELTQRREQRDICE

• Sequence length: 465

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Apraxia	Apraxia of Phonation	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Benign rolandic epilepsy	Benign Rolandic Epilepsy	rs118192212
Epilepsy	Epilepsy, Rolandic	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532
Febrile seizures	Febrile Convulsions	rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304
Mental retardation	Borderline intellectual disability, Mild 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
Migraine	Migraine Disorders	rs794727411

Unknown
Disease term	Disease name	Evidence	References	Source
Absence seizure	Atypical absence seizure			ClinVar
Mental depression	Depressive disorder			ClinVar
Specific learning disorder	Specific learning disability			ClinVar
Polymicrogyria	polymicrogyria, bilateral perisylvian, X-linked			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	9250173
Aortic Aneurysm Abdominal	Associate	29191809
Apraxias	Associate	20858596
Carcinoma Pancreatic Ductal	Associate	26191169
Cognition Disorders	Associate	25167861
Epilepsies Partial	Associate	19682046
Epilepsy	Associate	20858596, 22242148, 31056551
Epilepsy Rolandic	Associate	19682046
Esophageal Squamous Cell Carcinoma	Associate	30551519
Fuchs' Endothelial Dystrophy	Associate	37369713
Gastrointestinal Neoplasms	Stimulate	22242148
Glioblastoma	Stimulate	26643178
Glioblastoma	Associate	36412091
Intellectual Disability	Associate	23871722
Language Disorders	Associate	26191169, 28440294
Melanoma	Associate	30795533
Neoplasm Metastasis	Associate	26643178
Neoplasm Metastasis	Stimulate	30551519
Neoplasms	Inhibit	20964819
Neoplasms	Associate	22242148, 26643178, 30551519, 32455867, 37306872
Pancreatic Neoplasms	Associate	26191169
Polymicrogyria	Associate	20858596
Rupture	Associate	29191809
Squamous Cell Carcinoma of Head and Neck	Associate	32455867
Stomach Neoplasms	Associate	26191169
Thyroid Cancer Papillary	Associate	37306872