RALGAPA1 (Ral GTPase activating protein catalytic subunit alpha 1)

Gene

• Entrez ID: 253959
• Gene name: Ral GTPase activating protein catalytic subunit alpha 1
• Gene symbol: RALGAPA1
• Synonyms (NCBI Gene): GARNL1, GRIPE, NEDHRIT, RalGAPalpha1, TULIP1, p240
• Disease Acronyms (UniProt): NEDHRIT
• Chromosome: 14
• Chromosome location: 14q13.2
• Summary: This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 prot

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1594642302	G>C	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1594878619	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1595085511	T>C	Pathogenic	Missense variant, coding sequence variant
rs1595416752	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1595446167	C>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051044	hsa-miR-17-5p	CLASH	23622248
MIRT051044	hsa-miR-17-5p	CLASH	23622248
MIRT662443	hsa-miR-4282	HITS-CLIP	23824327
MIRT662442	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT662441	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT662440	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT662439	hsa-miR-1248	HITS-CLIP	23824327
MIRT662438	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT662437	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT662436	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT662435	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT662434	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT662433	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT662432	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT662431	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT662443	hsa-miR-4282	HITS-CLIP	23824327
MIRT662442	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT662441	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT662440	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT662439	hsa-miR-1248	HITS-CLIP	23824327
MIRT662438	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT662437	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT662436	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT662435	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT662434	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT662433	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT662432	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT662431	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT1288844	hsa-miR-1202	CLIP-seq
MIRT1288845	hsa-miR-1272	CLIP-seq
MIRT1288846	hsa-miR-128	CLIP-seq
MIRT1288847	hsa-miR-1322	CLIP-seq
MIRT1288848	hsa-miR-183	CLIP-seq
MIRT1288849	hsa-miR-24	CLIP-seq
MIRT1288850	hsa-miR-27a	CLIP-seq
MIRT1288851	hsa-miR-27b	CLIP-seq
MIRT1288852	hsa-miR-3166	CLIP-seq
MIRT1288853	hsa-miR-3171	CLIP-seq
MIRT1288854	hsa-miR-3672	CLIP-seq
MIRT1288855	hsa-miR-3941	CLIP-seq
MIRT1288856	hsa-miR-3972	CLIP-seq
MIRT1288857	hsa-miR-4284	CLIP-seq
MIRT1288858	hsa-miR-4493	CLIP-seq
MIRT1288859	hsa-miR-4643	CLIP-seq
MIRT1288860	hsa-miR-466	CLIP-seq
MIRT1288861	hsa-miR-4672	CLIP-seq
MIRT1288862	hsa-miR-4699-3p	CLIP-seq
MIRT1288863	hsa-miR-4700-3p	CLIP-seq
MIRT1288864	hsa-miR-4766-5p	CLIP-seq
MIRT1288865	hsa-miR-4776-3p	CLIP-seq
MIRT1288866	hsa-miR-4789-3p	CLIP-seq
MIRT1288867	hsa-miR-488	CLIP-seq
MIRT1288868	hsa-miR-494	CLIP-seq
MIRT2085633	hsa-miR-3907	CLIP-seq
MIRT1288859	hsa-miR-4643	CLIP-seq
MIRT1288860	hsa-miR-466	CLIP-seq
MIRT1288866	hsa-miR-4789-3p	CLIP-seq
MIRT2085634	hsa-miR-577	CLIP-seq
MIRT2085635	hsa-miR-1	CLIP-seq
MIRT1288844	hsa-miR-1202	CLIP-seq
MIRT1288845	hsa-miR-1272	CLIP-seq
MIRT1288847	hsa-miR-1322	CLIP-seq
MIRT2085636	hsa-miR-206	CLIP-seq
MIRT1288853	hsa-miR-3171	CLIP-seq
MIRT2085637	hsa-miR-3673	CLIP-seq
MIRT1288856	hsa-miR-3972	CLIP-seq
MIRT1288865	hsa-miR-4776-3p	CLIP-seq
MIRT2085638	hsa-miR-4777-5p	CLIP-seq
MIRT2085639	hsa-miR-518d-5p	CLIP-seq
MIRT2085640	hsa-miR-519b-5p	CLIP-seq
MIRT2085641	hsa-miR-519c-5p	CLIP-seq
MIRT2085642	hsa-miR-520c-5p	CLIP-seq
MIRT2085643	hsa-miR-526a	CLIP-seq
MIRT2085644	hsa-miR-613	CLIP-seq
MIRT2085635	hsa-miR-1	CLIP-seq
MIRT1288844	hsa-miR-1202	CLIP-seq
MIRT1288845	hsa-miR-1272	CLIP-seq
MIRT1288847	hsa-miR-1322	CLIP-seq
MIRT2310908	hsa-miR-15a	CLIP-seq
MIRT2310909	hsa-miR-15b	CLIP-seq
MIRT2310910	hsa-miR-16	CLIP-seq
MIRT1288848	hsa-miR-183	CLIP-seq
MIRT2310911	hsa-miR-195	CLIP-seq
MIRT2085636	hsa-miR-206	CLIP-seq
MIRT1288853	hsa-miR-3171	CLIP-seq
MIRT2085637	hsa-miR-3673	CLIP-seq
MIRT2310912	hsa-miR-3682-5p	CLIP-seq
MIRT2310913	hsa-miR-371b-5p	CLIP-seq
MIRT1288856	hsa-miR-3972	CLIP-seq
MIRT2310914	hsa-miR-424	CLIP-seq
MIRT2310915	hsa-miR-4524	CLIP-seq
MIRT1288865	hsa-miR-4776-3p	CLIP-seq
MIRT2085638	hsa-miR-4777-5p	CLIP-seq
MIRT2310916	hsa-miR-497	CLIP-seq
MIRT2310917	hsa-miR-503	CLIP-seq
MIRT2085639	hsa-miR-518d-5p	CLIP-seq
MIRT2085640	hsa-miR-519b-5p	CLIP-seq
MIRT2085641	hsa-miR-519c-5p	CLIP-seq
MIRT2085642	hsa-miR-520c-5p	CLIP-seq
MIRT2085643	hsa-miR-526a	CLIP-seq
MIRT2085644	hsa-miR-613	CLIP-seq
MIRT2310918	hsa-miR-646	CLIP-seq
MIRT2607414	hsa-miR-200b	CLIP-seq
MIRT2607415	hsa-miR-200c	CLIP-seq
MIRT2607416	hsa-miR-3122	CLIP-seq
MIRT2607417	hsa-miR-3185	CLIP-seq
MIRT2607418	hsa-miR-3913-5p	CLIP-seq
MIRT2607419	hsa-miR-429	CLIP-seq
MIRT2607420	hsa-miR-4424	CLIP-seq
MIRT2607421	hsa-miR-4747-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA	21873635
GO:0005096	Function	GTPase activator activity	ISS
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	ISS
GO:0046982	Function	Protein heterodimerization activity	IPI	19520869
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0090630	Process	Activation of GTPase activity	ISS

Other IDs

• MIM: 608884
• HGNC: 17770
• e!Ensembl: ENSG00000174373

Protein

• UniProt ID: Q6GYQ0
• Protein name: Ral GTPase-activating protein subunit alpha-1 (GAP-related-interacting partner to E12) (GRIPE) (GTPase-activating Rap/Ran-GAP domain-like 1) (Tuberin-like protein 1) (p240)
• Protein function: Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02145	Rap_GAP	1825 → 2002	Rap/ran-GAP	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15498464}.
• Sequence:

  MFSKKPHGDVKKSTQKVLDTKKDALTRLKHLRIVIENAESIDLKQFFDQHFSHIYYVFFE
  NFVTIEASLKQKGHKSQREELDAILFIFEKILQLLPERIHQRWQFHSIGLILKKLLHTGN
  SLKIRREGVRLFLLWLQALQNNCSKEQLWMFSCLIPGFSAPQSEHGPRTLDNLINPPLNL
  QETQVTIEEITPLVPPQSGDKGQEDLTSYFLEALLKYIVIQVKSLEWKNKENQERGFSFL
  FSHFKKYYLPYIFPNICKENSLYHPILDIPQMRPKPHYVVIKKDAETNEAIYCTKEPFIK
  ARVIVIRWLVSFWLEPKPHTGPHIPGMEGEVLPKNIQRAAASLVSREESKNDNADKTDRT
  TEPEQSHSNTSTLTEREPSSSSLCSIDEEHLTDIEIVRRVFSSKRSNVNFVTEIFRQAFL
  LPICEAAAMRKVVKVYQEWIQQEEKPLFMQEPEEIVITSSDLPCIENVTDHDISMEEGEK
  REEENGTNTADHVRNSSWAKNGSYQGALHNASEEATEQNIRAGTQAVLQVFIINSSNIFL
  LEPANEIKNLLDEHTDMCKRILNIYRYMVVQVSMDKKTWEQMLLVLLRVTESVLKMPSQA
  FLQFQGKKNMTLAGRLAGPLFQTLIVAWIKANLNVYISRELWDDLLSVLSSLTYWEELAT
  EWSLTMETLTKVLARNLYSLDLSDLPLDKLSEQKQKKHKGKGVGHEFQKVSVDKSFSRGW
  SRDQPGQAPMRQRSATTTGSPGTEKARSIVRQKTVDIDDAQILPRSTRVRHFSQSEETGN
  EVFGALNEEQPLPRSSSTSDILEPFTVERAKVNKEDMSQKLPPLNSDIGGSSANVPDLMD
  EFIAERLRSGNASTMTRRGSSPGSLEIPKDLPDILNKQNQMRPIDDPGVPSEWTSPASAG
  SSDLISSDSHSDSFSAFQYDGRKFDNFGFGTDTGVTSSADVDSGSGHHQSAEEQEVASLT
  TLHIDSETSSLNQQAFSAEVATITGSESASPVHSPLGSRSQTPSPSTLNIDHMEQKDLQL
  DEKLHHSVLQTPDDLEISEFPSECCSVMAGGTLTGWHADVATVMWRRMLGILGDVNSIMD
  PEIHAQVFDYLCELWQNLAKIRDNLGISTDNLTSPSPPVLIPPLRILTPWLFKATMLTDK
  YKQGKLHAYKLICNTMKRRQDVSPNRDFLTHFYNIMHCGLLHIDQDIVNTIIKHCSPQFF
  SLGLPGATMLIMDFIVAAGRVASSAFLNAPRVEAQVLLGSLVCFPNLYCELPSLHPNIPD
  VAVSQFTDVKELIIKTVLSSARDEPSGPARCVALCSLGIWICEELVHESHHPQIKEALNV
  ICVSLKFTNKTVAHVACNMLHMLVHYVPRLQIYQPDSPLKIIQILIATITHLLPSTEASS
  YEMDKRLVVSLLLCLLDWIMALPLKTLLQPFHATGAESDKTEKSVLNCIYKVLHGCVYGA
  QCFSNPRYFPMSLSDLASVDYDPFMHLESLKEPEPLHSPDSERSSKLQPVTEVKTQMQHG
  LISIAARTVITHLVNHLGHYPMSGGPAMLTSQVCENHDNHYSESTELSPELFESPNIQFF
  VLNNTTLVSCIQIRSEENMPGGGLSAGLASANSNVRIIVRDLSGKYSWDSAILYGPPPVS
  GLSEPTSFMLSLSHQEKPEEPPTSNECLEDITVKDGLSLQFKRFRETVPTWDTIRDEEDV
  LDELLQYLGVTSPECLQRTGISLNIPAPQPVCISEKQENDVINAILKQHTEEKEFVEKHF
  NDLNMKAVEQDEPIPQKPQSAFYYCRLLLSILGMNSWDKRRSFHLLKKNEKLLRELRNLD
  SRQCRETHKIAVFYVAEGQEDKHSILTNTGGSQAYEDFVAGLGWEVNLTNHCGFMGGLQK
  NKSTGLTTPYFATSTVEVIFHVSTRMPSDSDDSLTKKLRHLGNDEVHIVWSEHTRDYRRG
  IIPTEFGDVLIVIYPMKNHMFSIQIMKKPEVPFFGPLFDGAIVNGKVLPIMVRATAINAS
  RALKSLIPLYQNFYEERARYLQTIVQHHLEPTTFEDFAAQVFSPAPYHHLPSDADH

• Sequence length: 2036

Pathways

KEGG:

Ras signaling pathway

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	32004447

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

Associations from Text Mining
Disease Name	Relationship Type	References
Agenesis of Corpus Callosum	Associate	32004447
Feeding and Eating Disorders	Associate	32004447
Fever	Associate	32004447
Learning Disabilities	Associate	32004447
Muscle Hypotonia	Associate	32004447
Spasms Infantile	Associate	32004447