TRAPPC4 (trafficking protein particle complex subunit 4)

Gene

• Entrez ID: 51399
• Gene name: Trafficking protein particle complex subunit 4
• Gene symbol: TRAPPC4
• Synonyms (NCBI Gene): CGI-104, HSPC172, NEDESBA, PTD009, SBDN, SYNBINDIN, TRS23
• Disease Acronyms (UniProt): NEDESBA
• Chromosome: 11
• Chromosome location: 11q23.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT642887	hsa-miR-8063	HITS-CLIP	23824327
MIRT642886	hsa-miR-4698	HITS-CLIP	23824327
MIRT642885	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT642884	hsa-miR-1206	HITS-CLIP	23824327
MIRT642883	hsa-miR-6853-3p	HITS-CLIP	23824327
MIRT642882	hsa-miR-3977	HITS-CLIP	23824327
MIRT573522	hsa-miR-4691-3p	PAR-CLIP	20371350
MIRT573521	hsa-miR-6884-3p	PAR-CLIP	20371350
MIRT642887	hsa-miR-8063	HITS-CLIP	23824327
MIRT642886	hsa-miR-4698	HITS-CLIP	23824327
MIRT642885	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT642884	hsa-miR-1206	HITS-CLIP	23824327
MIRT642883	hsa-miR-6853-3p	HITS-CLIP	23824327
MIRT642882	hsa-miR-3977	HITS-CLIP	23824327
MIRT573522	hsa-miR-4691-3p	PAR-CLIP	20371350
MIRT573521	hsa-miR-6884-3p	PAR-CLIP	20371350
MIRT1452067	hsa-miR-1179	CLIP-seq
MIRT1452068	hsa-miR-122	CLIP-seq
MIRT1452069	hsa-miR-1252	CLIP-seq
MIRT1452070	hsa-miR-1276	CLIP-seq
MIRT1452071	hsa-miR-128	CLIP-seq
MIRT1452072	hsa-miR-1286	CLIP-seq
MIRT1452073	hsa-miR-1297	CLIP-seq
MIRT1452074	hsa-miR-150	CLIP-seq
MIRT1452075	hsa-miR-24	CLIP-seq
MIRT1452076	hsa-miR-26a	CLIP-seq
MIRT1452077	hsa-miR-26b	CLIP-seq
MIRT1452078	hsa-miR-3156-3p	CLIP-seq
MIRT1452079	hsa-miR-3167	CLIP-seq
MIRT1452080	hsa-miR-3664-3p	CLIP-seq
MIRT1452081	hsa-miR-3667-5p	CLIP-seq
MIRT1452082	hsa-miR-3692	CLIP-seq
MIRT1452083	hsa-miR-3978	CLIP-seq
MIRT1452084	hsa-miR-421	CLIP-seq
MIRT1452085	hsa-miR-4268	CLIP-seq
MIRT1452086	hsa-miR-4301	CLIP-seq
MIRT1452087	hsa-miR-4310	CLIP-seq
MIRT1452088	hsa-miR-4330	CLIP-seq
MIRT1452089	hsa-miR-4436b-5p	CLIP-seq
MIRT1452090	hsa-miR-4465	CLIP-seq
MIRT1452091	hsa-miR-4680-5p	CLIP-seq
MIRT1452092	hsa-miR-4684-3p	CLIP-seq
MIRT1452093	hsa-miR-4691-5p	CLIP-seq
MIRT1452094	hsa-miR-4709-5p	CLIP-seq
MIRT1452095	hsa-miR-4713-5p	CLIP-seq
MIRT1452096	hsa-miR-4722-5p	CLIP-seq
MIRT1452097	hsa-miR-4731-5p	CLIP-seq
MIRT1452098	hsa-miR-4797-5p	CLIP-seq
MIRT1452099	hsa-miR-498	CLIP-seq
MIRT1452100	hsa-miR-505	CLIP-seq
MIRT1452101	hsa-miR-519a	CLIP-seq
MIRT1452102	hsa-miR-519b-3p	CLIP-seq
MIRT1452103	hsa-miR-519c-3p	CLIP-seq
MIRT1452104	hsa-miR-532-3p	CLIP-seq
MIRT1452105	hsa-miR-548a-5p	CLIP-seq
MIRT1452106	hsa-miR-548ab	CLIP-seq
MIRT1452107	hsa-miR-548ak	CLIP-seq
MIRT1452108	hsa-miR-548b-5p	CLIP-seq
MIRT1452109	hsa-miR-548c-5p	CLIP-seq
MIRT1452110	hsa-miR-548d-5p	CLIP-seq
MIRT1452111	hsa-miR-548h	CLIP-seq
MIRT1452112	hsa-miR-548i	CLIP-seq
MIRT1452113	hsa-miR-548j	CLIP-seq
MIRT1452114	hsa-miR-548w	CLIP-seq
MIRT1452115	hsa-miR-548y	CLIP-seq
MIRT1452116	hsa-miR-559	CLIP-seq
MIRT1452117	hsa-miR-571	CLIP-seq
MIRT1452118	hsa-miR-578	CLIP-seq
MIRT1452119	hsa-miR-591	CLIP-seq
MIRT1452120	hsa-miR-630	CLIP-seq
MIRT1452121	hsa-miR-873	CLIP-seq
MIRT1452122	hsa-miR-876-5p	CLIP-seq
MIRT1452067	hsa-miR-1179	CLIP-seq
MIRT1452068	hsa-miR-122	CLIP-seq
MIRT2135371	hsa-miR-1275	CLIP-seq
MIRT1452072	hsa-miR-1286	CLIP-seq
MIRT1452073	hsa-miR-1297	CLIP-seq
MIRT1452074	hsa-miR-150	CLIP-seq
MIRT1452076	hsa-miR-26a	CLIP-seq
MIRT1452077	hsa-miR-26b	CLIP-seq
MIRT1452078	hsa-miR-3156-3p	CLIP-seq
MIRT1452084	hsa-miR-421	CLIP-seq
MIRT2135372	hsa-miR-4260	CLIP-seq
MIRT1452086	hsa-miR-4301	CLIP-seq
MIRT1452087	hsa-miR-4310	CLIP-seq
MIRT1452088	hsa-miR-4330	CLIP-seq
MIRT1452090	hsa-miR-4465	CLIP-seq
MIRT2135373	hsa-miR-4665-5p	CLIP-seq
MIRT1452091	hsa-miR-4680-5p	CLIP-seq
MIRT1452092	hsa-miR-4684-3p	CLIP-seq
MIRT1452094	hsa-miR-4709-5p	CLIP-seq
MIRT1452095	hsa-miR-4713-5p	CLIP-seq
MIRT1452096	hsa-miR-4722-5p	CLIP-seq
MIRT1452099	hsa-miR-498	CLIP-seq
MIRT1452100	hsa-miR-505	CLIP-seq
MIRT1452101	hsa-miR-519a	CLIP-seq
MIRT1452102	hsa-miR-519b-3p	CLIP-seq
MIRT1452103	hsa-miR-519c-3p	CLIP-seq
MIRT1452104	hsa-miR-532-3p	CLIP-seq
MIRT1452118	hsa-miR-578	CLIP-seq
MIRT2135374	hsa-miR-615-5p	CLIP-seq
MIRT1452120	hsa-miR-630	CLIP-seq
MIRT1452121	hsa-miR-873	CLIP-seq
MIRT1452067	hsa-miR-1179	CLIP-seq
MIRT1452068	hsa-miR-122	CLIP-seq
MIRT1452069	hsa-miR-1252	CLIP-seq
MIRT2135371	hsa-miR-1275	CLIP-seq
MIRT1452070	hsa-miR-1276	CLIP-seq
MIRT1452071	hsa-miR-128	CLIP-seq
MIRT1452072	hsa-miR-1286	CLIP-seq
MIRT1452073	hsa-miR-1297	CLIP-seq
MIRT1452074	hsa-miR-150	CLIP-seq
MIRT1452075	hsa-miR-24	CLIP-seq
MIRT1452076	hsa-miR-26a	CLIP-seq
MIRT1452077	hsa-miR-26b	CLIP-seq
MIRT1452078	hsa-miR-3156-3p	CLIP-seq
MIRT1452079	hsa-miR-3167	CLIP-seq
MIRT1452080	hsa-miR-3664-3p	CLIP-seq
MIRT1452081	hsa-miR-3667-5p	CLIP-seq
MIRT1452082	hsa-miR-3692	CLIP-seq
MIRT1452083	hsa-miR-3978	CLIP-seq
MIRT1452084	hsa-miR-421	CLIP-seq
MIRT2135372	hsa-miR-4260	CLIP-seq
MIRT1452086	hsa-miR-4301	CLIP-seq
MIRT1452087	hsa-miR-4310	CLIP-seq
MIRT1452088	hsa-miR-4330	CLIP-seq
MIRT1452089	hsa-miR-4436b-5p	CLIP-seq
MIRT1452090	hsa-miR-4465	CLIP-seq
MIRT2135373	hsa-miR-4665-5p	CLIP-seq
MIRT1452091	hsa-miR-4680-5p	CLIP-seq
MIRT1452092	hsa-miR-4684-3p	CLIP-seq
MIRT1452094	hsa-miR-4709-5p	CLIP-seq
MIRT1452095	hsa-miR-4713-5p	CLIP-seq
MIRT1452096	hsa-miR-4722-5p	CLIP-seq
MIRT1452097	hsa-miR-4731-5p	CLIP-seq
MIRT1452098	hsa-miR-4797-5p	CLIP-seq
MIRT1452099	hsa-miR-498	CLIP-seq
MIRT1452100	hsa-miR-505	CLIP-seq
MIRT1452101	hsa-miR-519a	CLIP-seq
MIRT1452102	hsa-miR-519b-3p	CLIP-seq
MIRT1452103	hsa-miR-519c-3p	CLIP-seq
MIRT1452104	hsa-miR-532-3p	CLIP-seq
MIRT1452105	hsa-miR-548a-5p	CLIP-seq
MIRT1452106	hsa-miR-548ab	CLIP-seq
MIRT1452107	hsa-miR-548ak	CLIP-seq
MIRT1452108	hsa-miR-548b-5p	CLIP-seq
MIRT1452109	hsa-miR-548c-5p	CLIP-seq
MIRT1452110	hsa-miR-548d-5p	CLIP-seq
MIRT1452111	hsa-miR-548h	CLIP-seq
MIRT1452112	hsa-miR-548i	CLIP-seq
MIRT1452113	hsa-miR-548j	CLIP-seq
MIRT1452114	hsa-miR-548w	CLIP-seq
MIRT1452115	hsa-miR-548y	CLIP-seq
MIRT1452116	hsa-miR-559	CLIP-seq
MIRT1452118	hsa-miR-578	CLIP-seq
MIRT1452119	hsa-miR-591	CLIP-seq
MIRT2135374	hsa-miR-615-5p	CLIP-seq
MIRT1452120	hsa-miR-630	CLIP-seq
MIRT1452121	hsa-miR-873	CLIP-seq
MIRT1452122	hsa-miR-876-5p	CLIP-seq
MIRT1452068	hsa-miR-122	CLIP-seq
MIRT1452084	hsa-miR-421	CLIP-seq
MIRT1452094	hsa-miR-4709-5p	CLIP-seq
MIRT1452100	hsa-miR-505	CLIP-seq
MIRT1452118	hsa-miR-578	CLIP-seq
MIRT1452120	hsa-miR-630	CLIP-seq
MIRT1452068	hsa-miR-122	CLIP-seq
MIRT1452079	hsa-miR-3167	CLIP-seq
MIRT1452082	hsa-miR-3692	CLIP-seq
MIRT1452089	hsa-miR-4436b-5p	CLIP-seq
MIRT1452097	hsa-miR-4731-5p	CLIP-seq
MIRT1452122	hsa-miR-876-5p	CLIP-seq
MIRT1452068	hsa-miR-122	CLIP-seq
MIRT1452072	hsa-miR-1286	CLIP-seq
MIRT1452079	hsa-miR-3167	CLIP-seq
MIRT1452082	hsa-miR-3692	CLIP-seq
MIRT1452084	hsa-miR-421	CLIP-seq
MIRT1452088	hsa-miR-4330	CLIP-seq
MIRT1452089	hsa-miR-4436b-5p	CLIP-seq
MIRT1452091	hsa-miR-4680-5p	CLIP-seq
MIRT1452092	hsa-miR-4684-3p	CLIP-seq
MIRT1452094	hsa-miR-4709-5p	CLIP-seq
MIRT1452096	hsa-miR-4722-5p	CLIP-seq
MIRT1452097	hsa-miR-4731-5p	CLIP-seq
MIRT1452100	hsa-miR-505	CLIP-seq
MIRT1452118	hsa-miR-578	CLIP-seq
MIRT1452120	hsa-miR-630	CLIP-seq
MIRT1452121	hsa-miR-873	CLIP-seq
MIRT1452122	hsa-miR-876-5p	CLIP-seq
MIRT1452068	hsa-miR-122	CLIP-seq
MIRT1452079	hsa-miR-3167	CLIP-seq
MIRT1452082	hsa-miR-3692	CLIP-seq
MIRT1452084	hsa-miR-421	CLIP-seq
MIRT1452089	hsa-miR-4436b-5p	CLIP-seq
MIRT1452094	hsa-miR-4709-5p	CLIP-seq
MIRT1452097	hsa-miR-4731-5p	CLIP-seq
MIRT1452100	hsa-miR-505	CLIP-seq
MIRT1452122	hsa-miR-876-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	17110339, 21826244
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005795	Component	Golgi stack	ISS	11018053
GO:0005829	Component	Cytosol	TAS
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IBA	21873635
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	31794024
GO:0006914	Process	Autophagy	IMP	31794024
GO:0008021	Component	Synaptic vesicle	ISS	11018053
GO:0016358	Process	Dendrite development	ISS	11018053
GO:0030008	Component	TRAPP complex	IBA	21873635
GO:0030008	Component	TRAPP complex	IDA	21525244
GO:0030008	Component	TRAPP complex	IMP	31794024
GO:0030425	Component	Dendrite	ISS	11018053
GO:0045202	Component	Synapse	ISS	11018053
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048208	Process	COPII vesicle coating	TAS

Other IDs

• MIM: 610971
• HGNC: 19943
• e!Ensembl: ENSG00000196655

Protein

• UniProt ID: Q9Y296
• Protein name: Trafficking protein particle complex subunit 4 (Hematopoietic stem/progenitor cell protein 172) (Synbindin) (TRS23 homolog)
• Protein function: Core component of the TRAPP complexes which has a function of guanine nucleotide exchange factor activity for Rab1 GTPase (Probable). Plays a role in vesicular transport from endoplasmic reticulum to Golgi and autophagy (PubMed:31794024). May pl
• PDB: 2J3T, 2JSN, 2ZMV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04099	Sybindin	3 → 209	Sybindin-like family	Family

• Sequence:

  MAIFSVYVVNKAGGLIYQLDSYAPRAEAEKTFSYPLDLLLKLHDERVLVAFGQRDGIRVG
  HAVLAINGMDVNGRYTADGKEVLEYLGNPANYPVSIRFGRPRLTSNEKLMLASMFHSLFA
  IGSQLSPEQGSSGIEMLETDTFKLHCYQTLTGIKFVVLADPRQAGIDSLLRKIYEIYSDF
  ALKNPFYSLEMPIRCELFDQNLKLALEVAEKAGTFGPGS

• Sequence length: 219

Pathways

Reactome:

COPII-mediated vesicle transport
RAB GEFs exchange GTP for GDP on RABs

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Glucose-6-phosphate transport defect	Glucose-6-phosphate transport defect	rs80356490, rs121908975, rs80356489, rs2134631556, rs80356491, rs121908976, rs121908977, rs1943574435, rs1943672400, rs121908978, rs121908979, rs121908980, rs1272300904, rs193302884, rs193302885, rs193302879, rs193302892, rs193302883, rs193302890, rs193302893, rs193302888, rs193302881, rs193302887, rs193302878, rs193302882, rs193302880, rs193302903, rs193302891, rs781784543, rs551439289, rs786204637, rs786204740, rs1555190969, rs1444468055, rs782604758, rs920196110, rs1474282972, rs1449998297, rs782202675, rs1555190559, rs1555190745, rs1555190956, rs1555190992, rs1555191105, rs1555191512, rs1555191573, rs1555191406, rs1555191580, rs781869215, rs1447366650, rs782630676, rs1182102272, rs782645078, rs782172072, rs1592111172, rs769726248, rs782501672, rs374848317, rs1592111559, rs1592109970, rs1592111112, rs1943557200, rs996440530, rs1233639372, rs1943676862	15953877, 18835800, 24646511, 22899091, 26913919, 10923042, 9758626, 10026167, 12444104, 10940311, 28224773, 10323254
Glycogen storage disease	Glycogen Storage Disease, GLYCOGEN STORAGE DISEASE Ic	rs10250779, rs387906244, rs113994126, rs113994129, rs113994134, rs369973784, rs199922945, rs118203964, rs113994132, rs387906246, rs113994128, rs267606639, rs267606640, rs755419857, rs895690691, rs121918193, rs121918195, rs121918196, rs116987552, rs119103251, rs119103252, rs119103253, rs119103254, rs144081869, rs119103255, rs786200874, rs267606993, rs119103257, rs119103258, rs119103259, rs119103260, rs1474863903, rs764313717, rs397515342, rs80338671, rs137852886, rs80338672, rs137852888, rs80338673, rs397515343, rs137852889, rs137852890, rs137852891, rs1575782181, rs137852892, rs397515344, rs137852894, rs121907936, rs121907937, rs28937909, rs121907938, rs121907940, rs121907941, rs386834236, rs121907939, rs28940868, rs1555603048, rs121907942, rs386834235, rs121907943, rs121907945, rs121908987, rs121908991, rs267606977, rs137852546, rs137852547, rs1603266754, rs137852548, rs137852528, rs137852529, rs431905501, rs137852531, rs137852532, rs137852533, rs137852535, rs137852536, rs137852537, rs137852538, rs431905503, rs137852539, rs137852285, rs137852286, rs587776731, rs137852287, rs137852288, rs587776732, rs137852293, rs137852289, rs137852290, rs137852291, rs137852292, rs137852294, rs587776733, rs2147483647, rs137852295, rs113993982, rs113993974, rs113993977, rs113993981, rs80356488, rs1801175, rs104894563, rs80356487, rs104894566, rs587776757, rs80356484, rs104894565, rs104894567, rs104894568, rs104894569, rs80356482, rs1801176, rs104894571, rs34667348, rs797044442, rs121918021, rs137853588, rs137853589, rs137853590, rs1596680941, rs137853591, rs137853592, rs121918419, rs587776831, rs121918420, rs121918421, rs121918422, rs121918423, rs121918424, rs121434584, rs80356485, rs80356479, rs80356483, rs113994130, rs113994131, rs113993978, rs113993979, rs113993986, rs113993973, rs113993975, rs387906505, rs113993976, rs199948078, rs193922697, rs397514631, rs1325298827, rs140869027, rs398123169, rs398123171, rs398123172, rs369532274, rs398123173, rs398123174, rs398124208, rs398124209, rs398124210, rs587777375, rs527236146, rs527236147, rs370652040, rs143137713, rs727502871, rs369531647, rs730880022, rs730880372, rs201958741, rs730882148, rs796051877, rs752921215, rs786204489, rs781580050, rs771961377, rs370792293, rs786204678, rs786204616, rs786204481, rs786204490, rs776977863, rs786204595, rs786204655, rs769960481, rs767739769, rs786204723, rs755117847, rs764920787, rs780226142, rs367727229, rs786204467, rs201185475, rs786204614, rs786204661, rs767882689, rs528367092, rs370950728, rs757700700, rs786204532, rs201896815, rs543300039, rs786204507, rs786204646, rs786204517, rs770610356, rs770276275, rs147804176, rs772883420, rs140826989, rs786204720, rs786204727, rs781088002, rs549029029, rs368438393, rs536906561, rs374143224, rs757111744, rs786204621, rs786204645, rs786204549, rs780321415, rs786204561, rs202143236, rs786204785, rs374470794, rs771427957, rs150547274, rs113994127, rs193186112, rs794727706, rs794729208, rs797045008, rs192044702, rs797044877, rs150382575, rs201157731, rs863224023, rs869312919, rs764622267, rs878855017, rs1800312, rs886039883, rs886041476, rs779556619, rs757617999, rs143523371, rs886042086, rs201201443, rs886042358, rs761317813, rs142752477, rs142967546, rs766074609, rs770590394, rs144016984, rs886043148, rs778032599, rs886043343, rs886043399, rs886043920, rs775450536, rs755253527, rs758004953, rs766935302, rs886058900, rs1057516189, rs1057516870, rs1057517057, rs1057516567, rs1057517347, rs1057517243, rs777857395, rs1057516868, rs757967016, rs1057516308, rs1057517344, rs1057516397, rs1057516471, rs748789700, rs763554006, rs1057516741, rs1057516948, rs1057516913, rs1057516570, rs1057516563, rs1057516708, rs1057516666, rs1057517136, rs1057517425, rs1057516984, rs1057516254, rs531425980, rs1057516793, rs1057516306, rs1057516952, rs1057516513, rs1057517079, rs764318570, rs1057517017, rs867341758, rs745757264, rs1057517405, rs1057516994, rs1057517315, rs1057516529, rs1057517001, rs1057517058, rs1057517067, rs1057516598, rs753181427, rs1057517442, rs747513238, rs752848974, rs1057516259, rs1057516612, rs749560316, rs1057516468, rs1057517400, rs752851284, rs1057516329, rs1057516629, rs1057517145, rs1057517361, rs1057516349, rs772194378, rs1057516367, rs1057517227, rs1057516674, rs1057517008, rs1057516630, rs749323139, rs1057516858, rs80356486, rs1055945806, rs1057516251, rs1057517165, rs1057516503, rs1057517381, rs1057517320, rs376229714, rs1057516600, rs762260678, rs1057516290, rs1057516785, rs1057516520, rs757458607, rs1057516546, rs1057517286, rs1057516215, rs560575383, rs747610090, rs892129065, rs1057517267, rs1057516426, rs377544304, rs1057516826, rs1057517105, rs753269119, rs778418246, rs1057516928, rs1057516581, rs1057516327, rs1057516328, rs1057516277, rs1057516363, rs777275355, rs1057516924, rs1057517148, rs1057516704, rs1057516341, rs763359208, rs1057518106, rs780883601, rs775685508, rs751952198, rs148842275, rs766733439, rs1064795728, rs1064795749, rs1064796703, rs1064794288, rs375470378, rs1064796706, rs1064797157, rs764567774, rs145166656, rs767409395, rs150911354, rs757681143, rs200483245, rs771069887, rs114073621, rs1553690406, rs774465102, rs758504480, rs143670942, rs1422043936, rs373517016, rs1553188832, rs771853367, rs1553185403, rs12118058, rs1553193463, rs370247862, rs1555602832, rs1555560204, rs1555603264, rs61736895, rs763016962, rs1556016365, rs1555601828, rs991082382, rs1555599713, rs1555136390, rs754134578, rs752002666, rs1553183220, rs1307281520, rs1479740763, rs1555989523, rs1555600102, rs142917638, rs1553185302, rs1553684545, rs1555601234, rs373345919, rs1553183359, rs1556014969, rs760589837, rs776733170, rs1553185474, rs1553186489, rs757987101, rs140095668, rs1188310172, rs1555467052, rs1555467557, rs748363083, rs763027848, rs1555600730, rs1555598796, rs1555988479, rs1556000892, rs1556007472, rs1556002344, rs764591009, rs769172044, rs1555328280, rs1354714214, rs1553183148, rs930434905, rs751112302, rs878959417, rs775498547, rs1443902661, rs1553192718, rs1293077915, rs1553193529, rs1553181400, rs1215043175, rs1553185418, rs1553185883, rs1553183178, rs1553186577, rs1553188559, rs750492389, rs1553188849, rs1432024176, rs1289339080, rs767346840, rs1553190751, rs1553184620, rs755747010, rs1553193486, rs1553184657, rs1327892944, rs1553187237, rs1553185905, rs1553193530, rs1553186613, rs1553187957, rs773095419, rs1553189468, rs1185321132, rs770438130, rs1553190316, rs1555133248, rs1462767117, rs1555136752, rs1163710370, rs1555136208, rs1555136540, rs750857876, rs1555136459, rs187131358, rs1555559741, rs1411037881, rs1485038937, rs1555598687, rs1555598880, rs1555599171, rs1555599586, rs1555599637, rs1555598869, rs1555599644, rs1555599594, rs1555599619, rs1555600050, rs1555599960, rs766680292, rs1555600166, rs996798292, rs1555600575, rs770780848, rs1555601780, rs765362308, rs1209887739, rs1555603216, rs1428358278, rs776948121, rs1555601662, rs1555603131, rs192679574, rs1555559279, rs1189630738, rs1555559991, rs1555560140, rs1555560185, rs1555598460, rs1555598544, rs1555598824, rs1555600111, rs778068209, rs1555600846, rs747150965, rs753505203, rs914396317, rs1555602692, rs1344266804, rs1555558920, rs1457925404, rs1555598800, rs1207988953, rs1555599667, rs1555600061, rs1434761678, rs759518659, rs1555601802, rs1555602703, rs1555602860, rs1555603434, rs1555995635, rs1567825175, rs1567705064, rs1567838823, rs1559637815, rs1557794150, rs756175624, rs146195866, rs781511110, rs759657964, rs1563131309, rs746120293, rs746348793, rs770037766, rs1270523244, rs1567706564, rs1567260747, rs201056962, rs764539267, rs765718882, rs1568619900, rs1569298646, rs1569344469, rs1567828977, rs561646250, rs1569297379, rs1210626722, rs1569300538, rs1256371424, rs747947171, rs1565538121, rs1565536363, rs1569297427, rs1567830317, rs764750389, rs1555603219, rs1567829962, rs1430517061, rs1205507761, rs149244943, rs748262135, rs1556299510, rs780246932, rs752961445, rs1315020035, rs767095759, rs756205397, rs149096315, rs1242540921, rs371296953, rs1303617854, rs766536350, rs1414146587, rs1567835775, rs1567835781, rs1570433472, rs1570508240, rs763216519, rs1598585402, rs1598578030, rs1598581682, rs1592412131, rs1571232214, rs1571232404, rs1571243699, rs1570433686, rs1570438459, rs765367405, rs1206517501, rs1239498701, rs774926455, rs1480850606, rs777589783, rs768604948, rs1592410003, rs1592818641, rs760187622, rs539898848, rs755612674, rs1597988331, rs775826449, rs1232001857, rs200210219, rs1598575231, rs141533320, rs1598582021, rs764670084, rs1448515860, rs886043882, rs1601685358, rs1601689006, rs1601739229, rs1601781024, rs1601781031, rs539203557, rs1212333772, rs372079212, rs765425704, rs776545903, rs1597989985, rs1598592604, rs1597989983, rs1556257317, rs1475559733, rs1598577666, rs1598580364, rs1596687577, rs1372753669, rs1601714299, rs1601747985, rs1601776276, rs1601760689, rs1601763099, rs1571232325, rs1570445130, rs370202718, rs1570487381, rs1576183537, rs1592408302, rs1592409633, rs150483902, rs1596687555, rs762089284, rs1597990895, rs1597990906, rs1597991608, rs1597991733, rs1601687244, rs1601748216, rs1601776523, rs1571243862, rs1592409631, rs1601780766, rs2039275157, rs2039287628, rs1567702823, rs756632286, rs1597990921, rs1576137368, rs1322527832, rs1596047883, rs1650040391, rs780694207, rs758182700, rs1652018859, rs1652879873, rs1654912428, rs1703086906, rs781198373, rs1703800818, rs1490328834, rs1804721948, rs1311913891, rs2058363627, rs1005687078, rs2058388882, rs2058407169, rs2058421657, rs138893744, rs758943884, rs2056023296, rs1401928680, rs764401169, rs2056091436, rs915675670, rs2039038743, rs2039117815, rs2039190879, rs2039192386, rs2039213824, rs766398206, rs2039287852, rs2047467477, rs2047492649, rs2047492720, rs765360653, rs111911126, rs1219299972, rs2047834385, rs2039261208, rs1262967083, rs2047514376, rs2048391185, rs2058357329, rs1598580407, rs2039250790, rs755305465, rs766448695	9758626, 10923042, 10323254
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	31794024
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085	31794024

Unknown
Disease term	Disease name	Evidence	References	Source
Spastic tetraparesis	Spastic tetraparesis		31794024	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Brain Diseases	Associate	32901138
Cerebellar Diseases	Associate	31794024
Colorectal Neoplasms	Associate	21826244
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	39787667
Developmental Disabilities	Associate	31794024, 39787667
Epilepsy	Associate	32901138
Facial Dysmorphism with Multiple Malformations	Associate	39787667
Heredodegenerative Disorders Nervous System	Associate	32901138
Immunologic Deficiency Syndromes	Inhibit	39787667
Intellectual Disability	Associate	31794024, 39787667
Microcephaly	Associate	32901138, 39787667
Neurologic Manifestations	Associate	31794024
Parkinson Disease	Associate	20035503
Pathological Conditions Anatomical	Associate	32901138
Psychomotor Disorders	Associate	32901138
Quadriplegia	Associate	31794024, 32901138
Seizures	Associate	31794024, 39787667