INPP4A (inositol polyphosphate-4-phosphatase type I A)

Gene

• Entrez ID: 3631
• Gene name: Inositol polyphosphate-4-phosphatase type I A
• Gene symbol: INPP4A
• Synonyms (NCBI Gene): INPP4, TVAS1
• Chromosome: 2
• Chromosome location: 2q11.2
• Summary: This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding disti

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1306444586	C>T	Likely-pathogenic	Non coding transcript variant, upstream transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs1574887674	C>T	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs1574965220	TC>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT046283	hsa-miR-23b-3p	CLASH	23622248
MIRT039407	hsa-miR-421	CLASH	23622248
MIRT037226	hsa-miR-877-5p	CLASH	23622248
MIRT037226	hsa-miR-877-5p	CLASH	23622248
MIRT036040	hsa-miR-1301-3p	CLASH	23622248
MIRT522993	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT522992	hsa-miR-520a-5p	PAR-CLIP	20371350
MIRT522991	hsa-miR-525-5p	PAR-CLIP	20371350
MIRT522993	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT522992	hsa-miR-520a-5p	PAR-CLIP	20371350
MIRT522991	hsa-miR-525-5p	PAR-CLIP	20371350
MIRT522993	hsa-miR-3613-3p	PAR-CLIP	23446348
MIRT522992	hsa-miR-520a-5p	PAR-CLIP	23446348
MIRT522991	hsa-miR-525-5p	PAR-CLIP	23446348
MIRT522993	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT522992	hsa-miR-520a-5p	PAR-CLIP	20371350
MIRT522991	hsa-miR-525-5p	PAR-CLIP	20371350
MIRT522993	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT522992	hsa-miR-520a-5p	PAR-CLIP	20371350
MIRT522991	hsa-miR-525-5p	PAR-CLIP	20371350
MIRT522993	hsa-miR-3613-3p	PAR-CLIP	23446348
MIRT522992	hsa-miR-520a-5p	PAR-CLIP	23446348
MIRT522991	hsa-miR-525-5p	PAR-CLIP	23446348
MIRT1067111	hsa-miR-128	CLIP-seq
MIRT1067112	hsa-miR-200b	CLIP-seq
MIRT1067113	hsa-miR-200c	CLIP-seq
MIRT1067114	hsa-miR-223	CLIP-seq
MIRT1067115	hsa-miR-27a	CLIP-seq
MIRT1067116	hsa-miR-27b	CLIP-seq
MIRT1067117	hsa-miR-3123	CLIP-seq
MIRT1067118	hsa-miR-323-3p	CLIP-seq
MIRT1067119	hsa-miR-3919	CLIP-seq
MIRT1067120	hsa-miR-4255	CLIP-seq
MIRT1067121	hsa-miR-4276	CLIP-seq
MIRT1067122	hsa-miR-429	CLIP-seq
MIRT1067123	hsa-miR-4297	CLIP-seq
MIRT1067124	hsa-miR-4302	CLIP-seq
MIRT1067125	hsa-miR-4461	CLIP-seq
MIRT1067126	hsa-miR-4697-3p	CLIP-seq
MIRT1067127	hsa-miR-4724-5p	CLIP-seq
MIRT1067128	hsa-miR-4756-3p	CLIP-seq
MIRT1067129	hsa-miR-4777-3p	CLIP-seq
MIRT1067130	hsa-miR-4795-3p	CLIP-seq
MIRT1067131	hsa-miR-513a-5p	CLIP-seq
MIRT1067132	hsa-miR-532-5p	CLIP-seq
MIRT1067133	hsa-miR-592	CLIP-seq
MIRT1067134	hsa-miR-597	CLIP-seq
MIRT1067135	hsa-miR-616	CLIP-seq
MIRT1067136	hsa-miR-935	CLIP-seq
MIRT1067137	hsa-miR-1305	CLIP-seq
MIRT1067138	hsa-miR-188-5p	CLIP-seq
MIRT1067139	hsa-miR-204	CLIP-seq
MIRT1067140	hsa-miR-211	CLIP-seq
MIRT1067141	hsa-miR-30a	CLIP-seq
MIRT1067142	hsa-miR-30b	CLIP-seq
MIRT1067143	hsa-miR-30c	CLIP-seq
MIRT1067144	hsa-miR-30d	CLIP-seq
MIRT1067145	hsa-miR-30e	CLIP-seq
MIRT1067146	hsa-miR-3136-3p	CLIP-seq
MIRT1067147	hsa-miR-3944-5p	CLIP-seq
MIRT1067148	hsa-miR-4432	CLIP-seq
MIRT1067149	hsa-miR-4495	CLIP-seq
MIRT1067150	hsa-miR-455-5p	CLIP-seq
MIRT1067151	hsa-miR-4698	CLIP-seq
MIRT1067152	hsa-miR-498	CLIP-seq
MIRT1067153	hsa-miR-499-5p	CLIP-seq
MIRT1067154	hsa-miR-605	CLIP-seq
MIRT1067155	hsa-miR-607	CLIP-seq
MIRT1067156	hsa-miR-1323	CLIP-seq
MIRT1067157	hsa-miR-137	CLIP-seq
MIRT1067139	hsa-miR-204	CLIP-seq
MIRT1067140	hsa-miR-211	CLIP-seq
MIRT1067158	hsa-miR-25	CLIP-seq
MIRT1067159	hsa-miR-300	CLIP-seq
MIRT1067160	hsa-miR-32	CLIP-seq
MIRT1067161	hsa-miR-338-5p	CLIP-seq
MIRT1067162	hsa-miR-363	CLIP-seq
MIRT1067163	hsa-miR-367	CLIP-seq
MIRT1067164	hsa-miR-381	CLIP-seq
MIRT1067165	hsa-miR-3938	CLIP-seq
MIRT1067166	hsa-miR-4328	CLIP-seq
MIRT1067167	hsa-miR-4470	CLIP-seq
MIRT1067168	hsa-miR-4666-3p	CLIP-seq
MIRT1067169	hsa-miR-4742-3p	CLIP-seq
MIRT1067170	hsa-miR-4753-3p	CLIP-seq
MIRT1067171	hsa-miR-4755-5p	CLIP-seq
MIRT1067172	hsa-miR-4789-5p	CLIP-seq
MIRT1067173	hsa-miR-548a-3p	CLIP-seq
MIRT1067174	hsa-miR-548a-5p	CLIP-seq
MIRT1067175	hsa-miR-548ab	CLIP-seq
MIRT1067176	hsa-miR-548ak	CLIP-seq
MIRT1067177	hsa-miR-548b-5p	CLIP-seq
MIRT1067178	hsa-miR-548c-5p	CLIP-seq
MIRT1067179	hsa-miR-548d-5p	CLIP-seq
MIRT1067180	hsa-miR-548e	CLIP-seq
MIRT1067181	hsa-miR-548f	CLIP-seq
MIRT1067182	hsa-miR-548g	CLIP-seq
MIRT1067183	hsa-miR-548h	CLIP-seq
MIRT1067184	hsa-miR-548i	CLIP-seq
MIRT1067185	hsa-miR-548j	CLIP-seq
MIRT1067186	hsa-miR-548o	CLIP-seq
MIRT1067187	hsa-miR-548w	CLIP-seq
MIRT1067188	hsa-miR-548y	CLIP-seq
MIRT1067189	hsa-miR-559	CLIP-seq
MIRT1067190	hsa-miR-580	CLIP-seq
MIRT1067191	hsa-miR-587	CLIP-seq
MIRT1067192	hsa-miR-623	CLIP-seq
MIRT1067193	hsa-miR-802	CLIP-seq
MIRT1067194	hsa-miR-92a	CLIP-seq
MIRT1067195	hsa-miR-92b	CLIP-seq
MIRT1067196	hsa-miR-944	CLIP-seq
MIRT2016267	hsa-miR-1910	CLIP-seq
MIRT1067112	hsa-miR-200b	CLIP-seq
MIRT1067113	hsa-miR-200c	CLIP-seq
MIRT2016268	hsa-miR-4274	CLIP-seq
MIRT1067122	hsa-miR-429	CLIP-seq
MIRT2016269	hsa-miR-4744	CLIP-seq
MIRT1067112	hsa-miR-200b	CLIP-seq
MIRT1067113	hsa-miR-200c	CLIP-seq
MIRT1067122	hsa-miR-429	CLIP-seq
MIRT1067111	hsa-miR-128	CLIP-seq
MIRT2552050	hsa-miR-1304	CLIP-seq
MIRT2552051	hsa-miR-143	CLIP-seq
MIRT2552052	hsa-miR-15a	CLIP-seq
MIRT2552053	hsa-miR-15b	CLIP-seq
MIRT2552054	hsa-miR-16	CLIP-seq
MIRT2552055	hsa-miR-195	CLIP-seq
MIRT2552056	hsa-miR-3064-3p	CLIP-seq
MIRT2552057	hsa-miR-3117-5p	CLIP-seq
MIRT2552058	hsa-miR-3126-5p	CLIP-seq
MIRT2552059	hsa-miR-409-5p	CLIP-seq
MIRT2552060	hsa-miR-424	CLIP-seq
MIRT2552061	hsa-miR-4419a	CLIP-seq
MIRT2552062	hsa-miR-4428	CLIP-seq
MIRT2552063	hsa-miR-4510	CLIP-seq
MIRT2552064	hsa-miR-4530	CLIP-seq
MIRT2552065	hsa-miR-4680-5p	CLIP-seq
MIRT2552066	hsa-miR-4691-3p	CLIP-seq
MIRT1067128	hsa-miR-4756-3p	CLIP-seq
MIRT2552067	hsa-miR-4770	CLIP-seq
MIRT2552068	hsa-miR-497	CLIP-seq
MIRT2552069	hsa-miR-512-5p	CLIP-seq
MIRT2552070	hsa-miR-634	CLIP-seq
MIRT2552071	hsa-miR-640	CLIP-seq
MIRT2552072	hsa-miR-922	CLIP-seq
MIRT2682844	hsa-miR-1973	CLIP-seq
MIRT2682845	hsa-miR-3150a-5p	CLIP-seq
MIRT2682846	hsa-miR-3150b-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25869668
GO:0005634	Component	Nucleus	IDA	30071275
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	30071275
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0007165	Process	Signal transduction	TAS	7608176
GO:0014069	Component	Postsynaptic density	ISS
GO:0016311	Process	Dephosphorylation	IEA
GO:0016316	Function	Phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity	IBA	21873635
GO:0031901	Component	Early endosome membrane	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0034597	Function	Phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	IEA
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	IEA
GO:0043647	Process	Inositol phosphate metabolic process	TAS
GO:0055038	Component	Recycling endosome membrane	IEA

Other IDs

• MIM: 600916
• HGNC: 6074
• e!Ensembl: ENSG00000040933

Protein

• UniProt ID: Q96PE3
• Protein name: Inositol polyphosphate-4-phosphatase type I A (Inositol polyphosphate 4-phosphatase type I) (Type I inositol 3,4-bisphosphate 4-phosphatase) (EC 3.1.3.66)
• Protein function: Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (PubMed:15716355, PubMed:20463662). Also catalyzes inositol 1,3,4-trisphosphate and inositol 1,4-bisphosphate (By similarity). Antagoni
• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is expressed in the platelets, MEG-01 megakaryocytes and Jurkat T-cells. Isoform 2 is expressed in the brain. {ECO:0000269|PubMed:11485317}.
• Sequence:

  MTAREHSPRHGARARAMQRASTIDVAADMLGLSLAGNIQDPDEPILEFSLACSELHTPSL
  DRKPNSFVAVSVTTPPQAFWTKHAQTEIIEGTNNPIFLSSIAFFQDSLINQMTQVKLSVY
  DVKDRSQGTMYLLGSGTFIVKDLLQDRHHRLHLTLRSAESDRVGNITVIGWQMEEKSDQR
  PPVTRSVDTVNGRMVLPVDESLTEALGIRSKYASLRKDTLLKSVFGGAICRMYRFPTTDG
  NHLRILEQMAESVLSLHVPRQFVKLLLEEDAARVCELEELGELSPCWESLRRQIVTQYQT
  IILTYQENLTDLHQYRGPSFKASSLKADKKLEFVPTNLHIQRMRVQDDGGSDQNYDIVTI
  GAPAAHCQGFKSGGLRKKLHKFEETKKHFEECCTSSGCQSIIYIPQDVVRAKEIIAQINT
  LKTQVSYYAERLSRAAKDRSATGLERTLAILADKTRQLVTVCDCKLLANSIHGLNAARPD
  YIASKASPTSTEEEQVMLRNDQDTLMARWTGRNSRSSLQVDWHEEEWEKVWLNVDKSLEC
  IIQRVDKLLQKERLHGEGCEDVFPCAGSCTSKKGNPDSHAYWIRPEDPFCDVPSSPCPST
  MPSTACHPHLTTHCSPPPEESSPGEWSEALYPLLTTLTDCVAMMSDKAKKAMVFLLMQDS
  APTIATYLSLQYRRDVVFCQTLTALICGFIIKLRNCLHDDGFLRQLYTIGLLAQFESLLS
  TYGEELAMLEDMSLGIMDLRNVTFKVTQATSSASADMLPVITGNRDGFNVRVPLPGPLFD
  ALPREIQSGMLLRVQPVLFNVGINEQQTLAERFGDTSLQEVINVESLVRLNSYFEQFKEV
  LPEDCLPRSRSQTCLPELLRFLGQNVHARKNKNVDILWQAAEICRRLNGVRFTSCKSAKD
  RTAMSVTLEQCLILQHEHGMAPQVFTQALECMRSEGCRRENTMKNVGSRKYAFNSLQLKA
  FPKHYRPPEGTYGKVET

• Sequence length: 977

Pathways

KEGG:

Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system

Reactome:

Synthesis of PIPs at the plasma membrane
Synthesis of PIPs at the early endosome membrane
Synthesis of IP2, IP, and Ins in the cytosol

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Dyskeratosis congenita	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1	rs121908092, rs121908089, rs121908090, rs121908091, rs121918543, rs121918544, rs121918545, rs1553915517, rs199422284, rs199476393, rs199422277, rs199422270, rs137854489, rs121912288, rs121912304, rs121918665, rs121918666, rs199422294, rs199422263, rs281865549, rs199473674, rs202138550, rs387907080, rs373905859, rs199473677, rs199473676, rs199473682, rs199473673, rs387907153, rs387907154, rs387907249, rs863223324, rs199422311, rs199422315, rs199422314, rs199422316, rs121912289, rs121912297, rs1554041299, rs199422297, rs199422298, rs199422305, rs199422255, rs199422269, rs199422274, rs199422278, rs199422257, rs199422262, rs199422264, rs199422266, rs199422267, rs199473679, rs397514660, rs281865547, rs201540674, rs370343781, rs398123017, rs398123048, rs398123051, rs373740199, rs398123052, rs786200999, rs756132866, rs786201001, rs797045144, rs776744306, rs863225129, rs886039438, rs1553915577, rs1553915591, rs745590324, rs942538351, rs1555512179, rs1444923772, rs1555899096, rs1555903332, rs1555814400, rs1553915580, rs770066110, rs1553915590, rs80224512, rs1555899111, rs200609323, rs1196342305, rs1285014916, rs773025155, rs895722334, rs1555811742, rs1555812228, rs1555812480, rs1421904176, rs1555811386, rs1555813123, rs1161373315, rs1555901832, rs961593162, rs1555813144, rs1415449695, rs1555814334, rs980695424, rs778734749, rs1555901000, rs780546933, rs1263776141, rs377024903, rs1555811966, rs1555812178, rs752833281, rs1555812834, rs1555814044, rs377461417, rs1567599296, rs764019241, rs1449687529, rs1569558474, rs767991627, rs1306444586, rs1596812454, rs915854031, rs1597422298, rs938938578, rs1597374251, rs745467709, rs1461036243, rs62637613, rs769617113, rs773120259, rs372031509	21931702, 15849264
Mental retardation	Profound Mental Retardation, Mental deficiency, 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	21937992

Unknown
Disease term	Disease name	Evidence	References	Source
Neurodevelopmental Disorders	neurodevelopmental disorder			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Pancreatic Ductal	Associate	35856354
Carcinoma Renal Cell	Associate	29415082
Colorectal Neoplasms	Associate	30809968
Diabetes Mellitus Type 1	Associate	34006268
Neoplasms	Associate	28337959
Pancreatic Intraductal Neoplasms	Associate	28776573
Pancreatic Neoplasms	Associate	27733216, 29415082
Urinary Bladder Neoplasms	Associate	28337959