RALGDS (ral guanine nucleotide dissociation stimulator)

Gene

• Entrez ID: 5900
• Gene name: Ral guanine nucleotide dissociation stimulator
• Gene symbol: RALGDS
• Synonyms (NCBI Gene): RGDS, RGF, RalGEF
• Chromosome: 9
• Chromosome location: 9q34.13-q34.2
• Summary: Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular processes.[supplied by OMIM, Nov 2010]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017310	hsa-miR-335-5p	Microarray	18185580
MIRT047157	hsa-miR-183-5p	CLASH	23622248
MIRT044953	hsa-miR-186-5p	CLASH	23622248
MIRT039756	hsa-miR-615-3p	CLASH	23622248
MIRT439826	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT439826	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT1289051	hsa-miR-1179	CLIP-seq
MIRT1289052	hsa-miR-1297	CLIP-seq
MIRT1289053	hsa-miR-1915	CLIP-seq
MIRT1289054	hsa-miR-26a	CLIP-seq
MIRT1289055	hsa-miR-26b	CLIP-seq
MIRT1289056	hsa-miR-300	CLIP-seq
MIRT1289057	hsa-miR-3065-5p	CLIP-seq
MIRT1289058	hsa-miR-3194-5p	CLIP-seq
MIRT1289059	hsa-miR-369-3p	CLIP-seq
MIRT1289060	hsa-miR-374a	CLIP-seq
MIRT1289061	hsa-miR-374b	CLIP-seq
MIRT1289062	hsa-miR-381	CLIP-seq
MIRT1289063	hsa-miR-3944-5p	CLIP-seq
MIRT1289064	hsa-miR-4251	CLIP-seq
MIRT1289065	hsa-miR-4272	CLIP-seq
MIRT1289066	hsa-miR-4293	CLIP-seq
MIRT1289067	hsa-miR-4324	CLIP-seq
MIRT1289068	hsa-miR-4446-3p	CLIP-seq
MIRT1289069	hsa-miR-4465	CLIP-seq
MIRT1289070	hsa-miR-4492	CLIP-seq
MIRT1289071	hsa-miR-4498	CLIP-seq
MIRT1289072	hsa-miR-4505	CLIP-seq
MIRT1289073	hsa-miR-4666-3p	CLIP-seq
MIRT1289074	hsa-miR-4699-3p	CLIP-seq
MIRT1289075	hsa-miR-4705	CLIP-seq
MIRT1289076	hsa-miR-4721	CLIP-seq
MIRT1289077	hsa-miR-4725-5p	CLIP-seq
MIRT1289078	hsa-miR-4726-3p	CLIP-seq
MIRT1289079	hsa-miR-4728-5p	CLIP-seq
MIRT1289080	hsa-miR-4731-5p	CLIP-seq
MIRT1289081	hsa-miR-4749-3p	CLIP-seq
MIRT1289082	hsa-miR-4789-5p	CLIP-seq
MIRT1289083	hsa-miR-504	CLIP-seq
MIRT1289084	hsa-miR-520f	CLIP-seq
MIRT1289085	hsa-miR-539	CLIP-seq
MIRT1289086	hsa-miR-634	CLIP-seq
MIRT1289087	hsa-miR-636	CLIP-seq
MIRT1289088	hsa-miR-762	CLIP-seq
MIRT1289089	hsa-miR-767-3p	CLIP-seq
MIRT1289090	hsa-miR-889	CLIP-seq
MIRT1289051	hsa-miR-1179	CLIP-seq
MIRT1289091	hsa-miR-1228	CLIP-seq
MIRT1289092	hsa-miR-1257	CLIP-seq
MIRT1289052	hsa-miR-1297	CLIP-seq
MIRT1289093	hsa-miR-183	CLIP-seq
MIRT1289054	hsa-miR-26a	CLIP-seq
MIRT1289055	hsa-miR-26b	CLIP-seq
MIRT1289094	hsa-miR-302a	CLIP-seq
MIRT1289095	hsa-miR-302b	CLIP-seq
MIRT1289096	hsa-miR-302c	CLIP-seq
MIRT1289097	hsa-miR-302d	CLIP-seq
MIRT1289098	hsa-miR-302e	CLIP-seq
MIRT1289057	hsa-miR-3065-5p	CLIP-seq
MIRT1289058	hsa-miR-3194-5p	CLIP-seq
MIRT1289099	hsa-miR-34a	CLIP-seq
MIRT1289100	hsa-miR-34c-5p	CLIP-seq
MIRT1289101	hsa-miR-372	CLIP-seq
MIRT1289102	hsa-miR-373	CLIP-seq
MIRT1289103	hsa-miR-4257	CLIP-seq
MIRT1289065	hsa-miR-4272	CLIP-seq
MIRT1289069	hsa-miR-4465	CLIP-seq
MIRT1289104	hsa-miR-449a	CLIP-seq
MIRT1289105	hsa-miR-449b	CLIP-seq
MIRT1289106	hsa-miR-4514	CLIP-seq
MIRT1289107	hsa-miR-4532	CLIP-seq
MIRT1289108	hsa-miR-4692	CLIP-seq
MIRT1289074	hsa-miR-4699-3p	CLIP-seq
MIRT1289081	hsa-miR-4749-3p	CLIP-seq
MIRT1289109	hsa-miR-4790-3p	CLIP-seq
MIRT1289110	hsa-miR-4797-5p	CLIP-seq
MIRT1289111	hsa-miR-486-3p	CLIP-seq
MIRT1289112	hsa-miR-520a-3p	CLIP-seq
MIRT1289113	hsa-miR-520b	CLIP-seq
MIRT1289114	hsa-miR-520c-3p	CLIP-seq
MIRT1289115	hsa-miR-520d-3p	CLIP-seq
MIRT1289116	hsa-miR-520e	CLIP-seq
MIRT1289084	hsa-miR-520f	CLIP-seq
MIRT1289117	hsa-miR-552	CLIP-seq
MIRT1289118	hsa-miR-566	CLIP-seq
MIRT1289086	hsa-miR-634	CLIP-seq
MIRT1289087	hsa-miR-636	CLIP-seq
MIRT2085785	hsa-miR-124	CLIP-seq
MIRT1289065	hsa-miR-4272	CLIP-seq
MIRT2085786	hsa-miR-506	CLIP-seq
MIRT2310990	hsa-miR-1207-5p	CLIP-seq
MIRT2085785	hsa-miR-124	CLIP-seq
MIRT2310991	hsa-miR-128	CLIP-seq
MIRT2310992	hsa-miR-27a	CLIP-seq
MIRT2310993	hsa-miR-27b	CLIP-seq
MIRT2310994	hsa-miR-3194-3p	CLIP-seq
MIRT2310995	hsa-miR-3545-5p	CLIP-seq
MIRT2310996	hsa-miR-3622b-5p	CLIP-seq
MIRT2310997	hsa-miR-3907	CLIP-seq
MIRT2310998	hsa-miR-3909	CLIP-seq
MIRT2310999	hsa-miR-421	CLIP-seq
MIRT1289065	hsa-miR-4272	CLIP-seq
MIRT1289066	hsa-miR-4293	CLIP-seq
MIRT1289081	hsa-miR-4749-3p	CLIP-seq
MIRT2311000	hsa-miR-4763-3p	CLIP-seq
MIRT2085786	hsa-miR-506	CLIP-seq
MIRT2607482	hsa-miR-1207-3p	CLIP-seq
MIRT2310990	hsa-miR-1207-5p	CLIP-seq
MIRT1289091	hsa-miR-1228	CLIP-seq
MIRT2085785	hsa-miR-124	CLIP-seq
MIRT2607483	hsa-miR-1271	CLIP-seq
MIRT2607484	hsa-miR-1306	CLIP-seq
MIRT2607485	hsa-miR-182	CLIP-seq
MIRT2607486	hsa-miR-2278	CLIP-seq
MIRT2607487	hsa-miR-2467-3p	CLIP-seq
MIRT2607488	hsa-miR-298	CLIP-seq
MIRT2607489	hsa-miR-3177-5p	CLIP-seq
MIRT2607490	hsa-miR-3180-5p	CLIP-seq
MIRT2607491	hsa-miR-3189-3p	CLIP-seq
MIRT2607492	hsa-miR-3199	CLIP-seq
MIRT2310995	hsa-miR-3545-5p	CLIP-seq
MIRT2310996	hsa-miR-3622b-5p	CLIP-seq
MIRT2607493	hsa-miR-3663-5p	CLIP-seq
MIRT2607494	hsa-miR-3678-3p	CLIP-seq
MIRT2607495	hsa-miR-3714	CLIP-seq
MIRT2310998	hsa-miR-3909	CLIP-seq
MIRT2607496	hsa-miR-3910	CLIP-seq
MIRT2310999	hsa-miR-421	CLIP-seq
MIRT1289103	hsa-miR-4257	CLIP-seq
MIRT2607497	hsa-miR-4268	CLIP-seq
MIRT2607498	hsa-miR-4270	CLIP-seq
MIRT1289065	hsa-miR-4272	CLIP-seq
MIRT1289066	hsa-miR-4293	CLIP-seq
MIRT2607499	hsa-miR-4441	CLIP-seq
MIRT2607500	hsa-miR-4448	CLIP-seq
MIRT2607501	hsa-miR-4468	CLIP-seq
MIRT2607502	hsa-miR-4470	CLIP-seq
MIRT1289106	hsa-miR-4514	CLIP-seq
MIRT1289107	hsa-miR-4532	CLIP-seq
MIRT2607503	hsa-miR-4540	CLIP-seq
MIRT2607504	hsa-miR-4646-5p	CLIP-seq
MIRT2607505	hsa-miR-4659a-5p	CLIP-seq
MIRT2607506	hsa-miR-4659b-5p	CLIP-seq
MIRT1289108	hsa-miR-4692	CLIP-seq
MIRT2607507	hsa-miR-4747-5p	CLIP-seq
MIRT2311000	hsa-miR-4763-3p	CLIP-seq
MIRT1289110	hsa-miR-4797-5p	CLIP-seq
MIRT1289111	hsa-miR-486-3p	CLIP-seq
MIRT2085786	hsa-miR-506	CLIP-seq
MIRT2607508	hsa-miR-512-5p	CLIP-seq
MIRT2607509	hsa-miR-520a-5p	CLIP-seq
MIRT2607510	hsa-miR-525-5p	CLIP-seq
MIRT2607511	hsa-miR-554	CLIP-seq
MIRT1289118	hsa-miR-566	CLIP-seq
MIRT2607512	hsa-miR-767-5p	CLIP-seq
MIRT2607513	hsa-miR-885-3p	CLIP-seq
MIRT2607514	hsa-miR-940	CLIP-seq
MIRT2607515	hsa-miR-96	CLIP-seq
MIRT2607482	hsa-miR-1207-3p	CLIP-seq
MIRT2310990	hsa-miR-1207-5p	CLIP-seq
MIRT1289091	hsa-miR-1228	CLIP-seq
MIRT2085785	hsa-miR-124	CLIP-seq
MIRT2607483	hsa-miR-1271	CLIP-seq
MIRT2607484	hsa-miR-1306	CLIP-seq
MIRT2607485	hsa-miR-182	CLIP-seq
MIRT2607486	hsa-miR-2278	CLIP-seq
MIRT2607488	hsa-miR-298	CLIP-seq
MIRT2607489	hsa-miR-3177-5p	CLIP-seq
MIRT2607490	hsa-miR-3180-5p	CLIP-seq
MIRT2607491	hsa-miR-3189-3p	CLIP-seq
MIRT2607492	hsa-miR-3199	CLIP-seq
MIRT2310995	hsa-miR-3545-5p	CLIP-seq
MIRT2310996	hsa-miR-3622b-5p	CLIP-seq
MIRT2607495	hsa-miR-3714	CLIP-seq
MIRT2310998	hsa-miR-3909	CLIP-seq
MIRT2607496	hsa-miR-3910	CLIP-seq
MIRT2310999	hsa-miR-421	CLIP-seq
MIRT1289103	hsa-miR-4257	CLIP-seq
MIRT2607497	hsa-miR-4268	CLIP-seq
MIRT2607498	hsa-miR-4270	CLIP-seq
MIRT1289065	hsa-miR-4272	CLIP-seq
MIRT2607499	hsa-miR-4441	CLIP-seq
MIRT2607500	hsa-miR-4448	CLIP-seq
MIRT2607501	hsa-miR-4468	CLIP-seq
MIRT2607502	hsa-miR-4470	CLIP-seq
MIRT1289106	hsa-miR-4514	CLIP-seq
MIRT1289107	hsa-miR-4532	CLIP-seq
MIRT2607503	hsa-miR-4540	CLIP-seq
MIRT2607504	hsa-miR-4646-5p	CLIP-seq
MIRT2607505	hsa-miR-4659a-5p	CLIP-seq
MIRT2607506	hsa-miR-4659b-5p	CLIP-seq
MIRT1289108	hsa-miR-4692	CLIP-seq
MIRT2607507	hsa-miR-4747-5p	CLIP-seq
MIRT2311000	hsa-miR-4763-3p	CLIP-seq
MIRT1289110	hsa-miR-4797-5p	CLIP-seq
MIRT1289111	hsa-miR-486-3p	CLIP-seq
MIRT2085786	hsa-miR-506	CLIP-seq
MIRT2607508	hsa-miR-512-5p	CLIP-seq
MIRT2607509	hsa-miR-520a-5p	CLIP-seq
MIRT2607510	hsa-miR-525-5p	CLIP-seq
MIRT2607511	hsa-miR-554	CLIP-seq
MIRT1289118	hsa-miR-566	CLIP-seq
MIRT2607512	hsa-miR-767-5p	CLIP-seq
MIRT2607513	hsa-miR-885-3p	CLIP-seq
MIRT2607514	hsa-miR-940	CLIP-seq
MIRT2607515	hsa-miR-96	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	20936779, 21988832, 22705156, 24441586, 25241761
GO:0005634	Component	Nucleus	IDA	22797597
GO:0005829	Component	Cytosol	IDA	22797597
GO:0005829	Component	Cytosol	TAS
GO:0005903	Component	Brush border	IDA	22797597
GO:0007265	Process	Ras protein signal transduction	TAS
GO:0030695	Function	GTPase regulator activity	IDA	7972015
GO:0030695	Function	GTPase regulator activity	NAS	9365783
GO:0050790	Process	Regulation of catalytic activity	IEA

Other IDs

• MIM: 601619
• HGNC: 9842
• e!Ensembl: ENSG00000160271

Protein

• UniProt ID: Q12967
• Protein name: Ral guanine nucleotide dissociation stimulator (RalGDS) (Ral guanine nucleotide exchange factor) (RalGEF)
• Protein function: Functions as a guanine nucleotide exchange factor (GEF) activating either RalA or RalB GTPases and plays an important role in intracellular transport. Interacts and acts as an effector molecule for R-Ras, H-Ras, K-Ras, and Rap (By similarity). D
• PDB: 1RAX, 2B3A, 2RGF, 3KH0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00618	RasGEF_N	115 → 227	RasGEF N-terminal motif	Domain
  PF00617	RasGEF	389 → 596	RasGEF domain	Family
  PF00788	RA	798 → 885	Ras association (RalGDS/AF-6) domain	Domain

• Sequence:

  MVQRMWAEAAGPAGGAEPLFPGSRRSRSVWDAVRLEVGVPDSCPVVLHSFTQLDPDLPRP
  ESSTQEIGEELINGVIYSISLRKVQLHHGGNKGQRWLGYENESALNLYETCKVRTVKAGT
  LEKLVEHLVPAFQGSDLSYVTIFLCTYRAFTTTQQVLDLLFKRYGRCDALTASSRYGCIL
  PYSDEDGGPQDQLKNAISSILGTWLDQYSEDFCQPPDFPCLKQLVAYVQLNMPGSDLERR
  AHLLLAQLEHSEPIEAEPEALSPVPALKPTPELELALTPARAPSPVPAPAPEPEPAPTPA
  PGSELEVAPAPAPELQQAPEPAVGLESAPAPALELEPAPEQDPAPSQTLELEPAPAPVPS
  LQPSWPSPVVAENGLSEEKPHLLVFPPDLVAEQFTLMDAELFKKVVPYHCLGSIWSQRDK
  KGKEHLAPTIRATVTQFNSVANCVITTCLGNRSTKAPDRARVVEHWIEVARECRILKNFS
  SLYAILSALQSNSIHRLKKTWEDVSRDSFRIFQKLSEIFSDENNYSLSRELLIKEGTSKF
  ATLEMNPKRAQKRPKETGIIQGTVPYLGTFLTDLVMLDTAMKDYLYGRLINFEKRRKEFE
  VIAQIKLLQSACNNYSIAPDEQFGAWFRAVERLSETESYNLSCELEPPSESASNTLRTKK
  NTAIVKRWSDRQAPSTELSTSGSSHSKSCDQLRCGPYLSSGDIADALSVHSAGSSSSDVE
  EINISFVPESPDGQEKKFWESASQSSPETSGISSASSSTSSSSASTTPVAATRTHKRSVS
  GLCNSSSALPLYNQQVGDCCIIRVSLDVDNGNMYKSILVTSQDKAPAVIRKAMDKHNLEE
  EEPEDYELLQILSDDRKLKIPENANVFYAMNSTANYDFVLKKRTFTKGVKVKHGASSTLP
  RMKQKGLKIAKGIF

• Sequence length: 914

Pathways

KEGG:

Ras signaling pathway
Rap1 signaling pathway
Phospholipase D signaling pathway
Pathways in cancer
Colorectal cancer
Pancreatic cancer
Choline metabolism in cancer

Reactome:

p38MAPK events

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
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	complex neurodevelopmental disorder, neurodevelopmental disorder			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Pancreatic Ductal	Associate	24222664
Colorectal Neoplasms	Associate	21199803, 26222778
Diabetes Mellitus	Associate	32075680
Fibrosarcoma	Associate	32499600
Melanoma	Associate	20412563
Neoplasms	Associate	25578962, 34715892, 40157967
Noonan Syndrome	Associate	25941399
Persistent Infection	Associate	32075680