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RASGRP1 (RAS guanyl releasing protein 1)

Gene

10125

RAS guanyl releasing protein 1

RASGRP1

CALDAG-GEFI, CALDAG-GEFII, IMD64, RASGRP

15q14

This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1595816926	->CT	Pathogenic	Coding sequence variant, frameshift variant, intron variant

Show/Hide all(221)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000019	hsa-miR-21-5p	qRT-PCR, Luciferase reporter assay, Western blot	20483747
MIRT000019	hsa-miR-21-5p	qRT-PCR, Luciferase reporter assay, Western blot	20483747
MIRT018006	hsa-miR-335-5p	Microarray	18185580
MIRT000019	hsa-miR-21-5p	Microarray	18591254
MIRT045953	hsa-miR-125b-5p	CLASH	23622248
MIRT615853	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT615852	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT615851	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT637641	hsa-miR-3161	HITS-CLIP	23824327
MIRT637640	hsa-miR-599	HITS-CLIP	23824327
MIRT615853	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT615852	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT615851	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT637641	hsa-miR-3161	HITS-CLIP	23824327
MIRT637640	hsa-miR-599	HITS-CLIP	23824327
MIRT615853	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT615852	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT615851	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT615850	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT615853	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT637643	hsa-miR-4677-3p	HITS-CLIP	23824327
MIRT637642	hsa-miR-4679	HITS-CLIP	23824327
MIRT615852	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT615851	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT637641	hsa-miR-3161	HITS-CLIP	23824327
MIRT615850	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT615849	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT615848	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT637640	hsa-miR-599	HITS-CLIP	23824327
MIRT615853	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT615852	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT615851	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT615850	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT615849	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT615848	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT000019	hsa-miR-21-5p	HITS-CLIP	22473208
MIRT000019	hsa-miR-21-5p	HITS-CLIP	22473208
MIRT053585	hsa-miR-29a-3p	Luciferase reporter assay, Western blot	26794609
MIRT053585	hsa-miR-29a-3p	Luciferase reporter assay, Western blot	26794609
MIRT615853	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT615852	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT615851	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT637641	hsa-miR-3161	HITS-CLIP	23824327
MIRT637640	hsa-miR-599	HITS-CLIP	23824327
MIRT615853	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT615852	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT615851	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT637641	hsa-miR-3161	HITS-CLIP	23824327
MIRT637640	hsa-miR-599	HITS-CLIP	23824327
MIRT615853	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT615852	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT615851	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT615850	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT615853	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT637643	hsa-miR-4677-3p	HITS-CLIP	23824327
MIRT637642	hsa-miR-4679	HITS-CLIP	23824327
MIRT615852	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT615851	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT637641	hsa-miR-3161	HITS-CLIP	23824327
MIRT615850	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT615849	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT615848	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT637640	hsa-miR-599	HITS-CLIP	23824327
MIRT615853	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT615852	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT615851	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT615850	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT615849	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT615848	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT1292315	hsa-let-7a	CLIP-seq
MIRT1292316	hsa-let-7b	CLIP-seq
MIRT1292317	hsa-let-7c	CLIP-seq
MIRT1292318	hsa-let-7d	CLIP-seq
MIRT1292319	hsa-let-7e	CLIP-seq
MIRT1292320	hsa-let-7f	CLIP-seq
MIRT1292321	hsa-let-7g	CLIP-seq
MIRT1292322	hsa-let-7i	CLIP-seq
MIRT1292323	hsa-miR-1184	CLIP-seq
MIRT1292324	hsa-miR-1205	CLIP-seq
MIRT1292325	hsa-miR-1225-5p	CLIP-seq
MIRT1292326	hsa-miR-1238	CLIP-seq
MIRT1292327	hsa-miR-196a	CLIP-seq
MIRT1292328	hsa-miR-196b	CLIP-seq
MIRT1292329	hsa-miR-199a-3p	CLIP-seq
MIRT1292330	hsa-miR-199b-3p	CLIP-seq
MIRT1292331	hsa-miR-200b	CLIP-seq
MIRT1292332	hsa-miR-200c	CLIP-seq
MIRT1292333	hsa-miR-202	CLIP-seq
MIRT1292334	hsa-miR-21	CLIP-seq
MIRT1292335	hsa-miR-221	CLIP-seq
MIRT1292336	hsa-miR-222	CLIP-seq
MIRT1292337	hsa-miR-224	CLIP-seq
MIRT1292338	hsa-miR-3121-3p	CLIP-seq
MIRT1292339	hsa-miR-3129-5p	CLIP-seq
MIRT1292340	hsa-miR-3152-3p	CLIP-seq
MIRT1292341	hsa-miR-3158-5p	CLIP-seq
MIRT1292342	hsa-miR-3173-3p	CLIP-seq
MIRT1292343	hsa-miR-3185	CLIP-seq
MIRT1292344	hsa-miR-3189-5p	CLIP-seq
MIRT1292345	hsa-miR-3200-5p	CLIP-seq
MIRT1292346	hsa-miR-3606	CLIP-seq
MIRT1292347	hsa-miR-3607-5p	CLIP-seq
MIRT1292348	hsa-miR-3662	CLIP-seq
MIRT1292349	hsa-miR-3672	CLIP-seq
MIRT1292350	hsa-miR-382	CLIP-seq
MIRT1292351	hsa-miR-3927	CLIP-seq
MIRT1292352	hsa-miR-3935	CLIP-seq
MIRT1292353	hsa-miR-3942-5p	CLIP-seq
MIRT1292354	hsa-miR-4263	CLIP-seq
MIRT1292355	hsa-miR-4276	CLIP-seq
MIRT1292356	hsa-miR-429	CLIP-seq
MIRT1292357	hsa-miR-4303	CLIP-seq
MIRT1292358	hsa-miR-4307	CLIP-seq
MIRT1292359	hsa-miR-4311	CLIP-seq
MIRT1292360	hsa-miR-4427	CLIP-seq
MIRT1292361	hsa-miR-4458	CLIP-seq
MIRT1292362	hsa-miR-4474-3p	CLIP-seq
MIRT1292363	hsa-miR-4500	CLIP-seq
MIRT1292364	hsa-miR-4503	CLIP-seq
MIRT1292365	hsa-miR-4523	CLIP-seq
MIRT1292366	hsa-miR-4637	CLIP-seq
MIRT1292367	hsa-miR-4649-3p	CLIP-seq
MIRT1292368	hsa-miR-4680-3p	CLIP-seq
MIRT1292369	hsa-miR-4682	CLIP-seq
MIRT1292370	hsa-miR-4691-5p	CLIP-seq
MIRT1292371	hsa-miR-4703-5p	CLIP-seq
MIRT1292372	hsa-miR-4708-5p	CLIP-seq
MIRT1292373	hsa-miR-4758-3p	CLIP-seq
MIRT1292374	hsa-miR-4760-5p	CLIP-seq
MIRT1292375	hsa-miR-4762-3p	CLIP-seq
MIRT1292376	hsa-miR-4766-5p	CLIP-seq
MIRT1292377	hsa-miR-4779	CLIP-seq
MIRT1292378	hsa-miR-4799-5p	CLIP-seq
MIRT1292379	hsa-miR-4802-3p	CLIP-seq
MIRT1292380	hsa-miR-499-3p	CLIP-seq
MIRT1292381	hsa-miR-499a-3p	CLIP-seq
MIRT1292382	hsa-miR-513b	CLIP-seq
MIRT1292383	hsa-miR-544	CLIP-seq
MIRT1292384	hsa-miR-545	CLIP-seq
MIRT1292385	hsa-miR-548ag	CLIP-seq
MIRT1292386	hsa-miR-548ai	CLIP-seq
MIRT1292387	hsa-miR-548m	CLIP-seq
MIRT1292388	hsa-miR-576-5p	CLIP-seq
MIRT1292389	hsa-miR-590-5p	CLIP-seq
MIRT1292390	hsa-miR-627	CLIP-seq
MIRT1292391	hsa-miR-633	CLIP-seq
MIRT1292392	hsa-miR-640	CLIP-seq
MIRT1292393	hsa-miR-873	CLIP-seq
MIRT1292394	hsa-miR-936	CLIP-seq
MIRT1292395	hsa-miR-98	CLIP-seq
MIRT1292396	hsa-miR-1253	CLIP-seq
MIRT1292397	hsa-miR-1269	CLIP-seq
MIRT1292398	hsa-miR-1269b	CLIP-seq
MIRT1292399	hsa-miR-1288	CLIP-seq
MIRT1292400	hsa-miR-142-3p	CLIP-seq
MIRT1292337	hsa-miR-224	CLIP-seq
MIRT1292342	hsa-miR-3173-3p	CLIP-seq
MIRT1292401	hsa-miR-3174	CLIP-seq
MIRT1292348	hsa-miR-3662	CLIP-seq
MIRT1292402	hsa-miR-3915	CLIP-seq
MIRT1292403	hsa-miR-3928	CLIP-seq
MIRT1292404	hsa-miR-4426	CLIP-seq
MIRT1292405	hsa-miR-4445	CLIP-seq
MIRT1292406	hsa-miR-4476	CLIP-seq
MIRT1292364	hsa-miR-4503	CLIP-seq
MIRT1292407	hsa-miR-4504	CLIP-seq
MIRT1292408	hsa-miR-4515	CLIP-seq
MIRT1292409	hsa-miR-4533	CLIP-seq
MIRT1292410	hsa-miR-4647	CLIP-seq
MIRT1292411	hsa-miR-4662b	CLIP-seq
MIRT1292412	hsa-miR-4709-3p	CLIP-seq
MIRT1292413	hsa-miR-4740-5p	CLIP-seq
MIRT1292414	hsa-miR-4776-3p	CLIP-seq
MIRT1292377	hsa-miR-4779	CLIP-seq
MIRT1292379	hsa-miR-4802-3p	CLIP-seq
MIRT1292382	hsa-miR-513b	CLIP-seq
MIRT1292415	hsa-miR-542-3p	CLIP-seq
MIRT1292384	hsa-miR-545	CLIP-seq
MIRT1292385	hsa-miR-548ag	CLIP-seq
MIRT1292386	hsa-miR-548ai	CLIP-seq
MIRT1292387	hsa-miR-548m	CLIP-seq
MIRT1292416	hsa-miR-921	CLIP-seq
MIRT2086875	hsa-miR-1263	CLIP-seq
MIRT2086876	hsa-miR-1273f	CLIP-seq
MIRT2086877	hsa-miR-1297	CLIP-seq
MIRT2086878	hsa-miR-143	CLIP-seq
MIRT1292327	hsa-miR-196a	CLIP-seq
MIRT1292328	hsa-miR-196b	CLIP-seq
MIRT1292337	hsa-miR-224	CLIP-seq
MIRT2086879	hsa-miR-26a	CLIP-seq
MIRT2086880	hsa-miR-26b	CLIP-seq
MIRT1292348	hsa-miR-3662	CLIP-seq
MIRT1292358	hsa-miR-4307	CLIP-seq
MIRT2086881	hsa-miR-4465	CLIP-seq
MIRT2086882	hsa-miR-4490	CLIP-seq
MIRT1292364	hsa-miR-4503	CLIP-seq
MIRT1292372	hsa-miR-4708-5p	CLIP-seq
MIRT2086883	hsa-miR-4712-3p	CLIP-seq
MIRT2086884	hsa-miR-4719	CLIP-seq
MIRT2086885	hsa-miR-4760-3p	CLIP-seq
MIRT1292374	hsa-miR-4760-5p	CLIP-seq
MIRT2086886	hsa-miR-4770	CLIP-seq
MIRT2086887	hsa-miR-4774-5p	CLIP-seq
MIRT2086888	hsa-miR-498	CLIP-seq
MIRT2086889	hsa-miR-499a-5p	CLIP-seq
MIRT1292382	hsa-miR-513b	CLIP-seq
MIRT1292384	hsa-miR-545	CLIP-seq
MIRT2086890	hsa-miR-549	CLIP-seq
MIRT2086891	hsa-miR-579	CLIP-seq
MIRT2086892	hsa-miR-622	CLIP-seq
MIRT2086893	hsa-miR-664	CLIP-seq
MIRT2311797	hsa-miR-3149	CLIP-seq
MIRT2311798	hsa-miR-568	CLIP-seq
MIRT2311799	hsa-miR-630	CLIP-seq
MIRT2311800	hsa-miR-656	CLIP-seq
MIRT2457776	hsa-miR-105	CLIP-seq
MIRT2457777	hsa-miR-1292	CLIP-seq
MIRT1292342	hsa-miR-3173-3p	CLIP-seq
MIRT1292403	hsa-miR-3928	CLIP-seq
MIRT2457778	hsa-miR-4471	CLIP-seq
MIRT2457779	hsa-miR-888	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
E2F1	Activation	18396012

Show/Hide all(41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000165	Process	MAPK cascade	TAS
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	21968647
GO:0001934	Process	Positive regulation of protein phosphorylation	IMP	23908768
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	23908768
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005509	Function	Calcium ion binding	IMP	23908768
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	21968647
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	TAS	9789079
GO:0007265	Process	Ras protein signal transduction	TAS	9582122
GO:0008270	Function	Zinc ion binding	IMP	23908768
GO:0008289	Function	Lipid binding	TAS	9582122
GO:0016020	Component	Membrane	TAS	9582122
GO:0019992	Function	Diacylglycerol binding	IMP	23908768
GO:0030101	Process	Natural killer cell activation	IMP	27776107
GO:0030154	Process	Cell differentiation	IEA
GO:0031210	Function	Phosphatidylcholine binding	IMP	23908768
GO:0032725	Process	Positive regulation of granulocyte macrophage colony-stimulating factor production	IMP	19933860
GO:0032729	Process	Positive regulation of interferon-gamma production	IMP	19933860
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IMP	19933860
GO:0042098	Process	T cell proliferation	IMP	29155103
GO:0042100	Process	B cell proliferation	IMP	27776107
GO:0042110	Process	T cell activation	IMP	27776107, 29155103
GO:0042113	Process	B cell activation	IMP	27776107, 29155103
GO:0042802	Function	Identical protein binding	IPI	23908768
GO:0043406	Process	Positive regulation of MAP kinase activity	IMP	15899849
GO:0043547	Process	Positive regulation of GTPase activity	IMP	23908768
GO:0045954	Process	Positive regulation of natural killer cell mediated cytotoxicity	IMP	19933860
GO:0046330	Process	Positive regulation of JNK cascade	IMP	19933860
GO:0046579	Process	Positive regulation of Ras protein signal transduction	IMP	19933860
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	IMP	23908768
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	19933860
GO:0090630	Process	Activation of GTPase activity	IDA	10807788
GO:0090630	Process	Activation of GTPase activity	IMP	12845332
GO:1900274	Process	Regulation of phospholipase C activity	IMP	19933860
GO:1900744	Process	Regulation of p38MAPK cascade	IMP	19933860

MIM	HGNC	e!Ensembl
603962	9878	ENSG00000172575

Protein

UniProt ID

O95267

Protein name

RAS guanyl-releasing protein 1 (Calcium and DAG-regulated guanine nucleotide exchange factor II) (CalDAG-GEFII) (Ras guanyl-releasing protein)

Protein function

Functions as a calcium- and diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP (PubMed:15899849, PubMed:23908768, PubMed:27776107, PubMed:29155103). Activates the Erk/M

PDB

4L9M , 4L9U

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00618	RasGEF_N	57 → 153	RasGEF N-terminal motif	Domain
PF00617	RasGEF	208 → 383	RasGEF domain	Family
PF13405	EF-hand_6	474 → 502	EF-hand domain	Domain
PF00130	C1_1	542 → 594	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain

Sequence

MGTLGKAREAPRKPSHGCRAASKARLEAKPANSPFPSHPSLAHITQFRMMVSLGHLAKGA
SLDDLIDSCIQSFDADGNLCRSNQLLQVMLTMHRIVISSAELLQKVITLYKDALAKNSPG
LCLKICYFVRYWITEFWVMFKMDASLTDTMEEFQELVKAKGEELHCRLIDTTQINARDWS
RKLTQRIKSNTSKKRKVSLLFDHLEPEELSEHLTYLEFKSFRRISFSDYQNYLVNSCVKE
NPTMERSIALCNGISQWVQLMVLSRPTPQLRAEVFIKFIQVAQKLHQLQNFNTLMAVIGG
LCHSSISRLKETSSHVPHEINKVLGEMTELLSSSRNYDNYRRAYGECTDFKIPILGVHLK
DLISLYEAMPDYLEDGKVNVHKLLALYNHISELVQLQEVAPPLEANKDLVHLLTLSLDLY
YTEDEIYELSYAREPRNHRAPPLTPSKPPVVVDWASGVSPKPDPKTISKHVQRMVDSVFK
NYDHDQDGYISQEEFEKIAASFPFSFCVMDKDREGLISRDEITAYFMRASSIYSKLGLGF
PHNFQETTYLKPTFCDNCAGFLWGVIKQGYRCKDCGMNCHKQCKDLVVFECKKRAKNPVA
PTENNTSVGPVSNLCSLGAKDLLHAPEEGPFTFPNGEAVEHGEESKDRTIMLMGVSSQKI
SLRLKRAVAHKATQTESQPWIGSEGPSGPFVLSSPRKTAQDTLYVLPSPTSPCPSPVLVR
KRAFVKWENKDSLIKSKEELRHLRLPTYQELEQEINTLKADNDALKIQLKYAQKKIESLQ
LEKSNHVLAQMEQGDCS

Sequence length

797

Interactions

View interactions

	KEGG		Reactome
	MAPK signaling pathway Ras signaling pathway Platelet activation T cell receptor signaling pathway Pathways in cancer PD-L1 expression and PD-1 checkpoint pathway in cancer		Activation of RAS in B cells Integrin signaling Rap1 signalling RAF/MAP kinase cascade

Associated diseases

Show/Hide Causal Diseases (15)

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Autoimmune diseases	Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	rs41285370, rs869025224	30595370
Autoimmune lymphoproliferative disorder	Autoimmune Lymphoproliferative Syndrome	rs17860424, rs112445441, rs121913529, rs121434596, rs80358236, rs606231361, rs606231362, rs121913076, rs606231363, rs121913077, rs28929498, rs121913080, rs267607122, rs606231364, rs606231365, rs121913085, rs606231366, rs121913086, rs121913237, rs121913535, rs398122958, rs606231296, rs886039524, rs121913527, rs1554851718, rs1295207359, rs1564699214, rs1564686301, rs1564696849, rs1564691414, rs747862347, rs1589482683, rs1589488463, rs1589488640, rs1589488494, rs1589465172, rs1589478691, rs1589485636, rs778993919, rs1842954041, rs1848315820, rs1207744817, rs1848558128, rs1848671126, rs1848675068, rs1848019699	29155103
Burkitt`s lymphoma	Burkitt Lymphoma	rs28933407, rs121918683, rs121918684
Carcinoma	Carcinoma, Basal Cell	rs121912654, rs555607708, rs786202962, rs1564055259
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	25751624, 22961080, 30718926
Glomerulonephritis	Glomerulonephritis	rs778043831
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605	30595370
Leukemia	Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2)	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	21441929
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	24076602
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578
Renal insufficiency	Renal Insufficiency	rs1596536873
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	24390342, 23143596, 30423114, 24532676
Vasculitis	Vasculitis	rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054

Show/Hide Unknown Diseases (29)

Unknown
Disease name	Disease term	dbSNP ID	References
Aphthous ulcer	Recurrent aphthous ulcer
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia
B-cell lymphoma	B-Cell Lymphomas
Bipolar disorder	Bipolar Disorder		21866111
Colitis	Colitis
Coombs positive hemolytic anemia	Coombs positive hemolytic anemia
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	26192919
Endometrioma	Endometrioma		20864642
Endometriosis	Endometriosis	rs1800629, rs1143634	20864642
Eosinophilia	Eosinophilia
Fibroadenoma of breast	Fibroadenoma of breast
Gastritis	Gastritis
Hodgkin disease	Hodgkin Disease
Hypersplenism	Hypersplenism
Immune thrombocytopenic purpura	Immune thrombocytopenic purpura
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes		27776107
Liver carcinoma	Liver carcinoma
Lupus erythematosus	Lupus Erythematosus, Systemic		26808113
Myeloid leukemia	Acute Myeloid Leukemia, M1		21441929
Nonbacterial verrucal endocardiosis	Libman-Sacks Disease		26808113
Panniculitis	Panniculitis
Premature menopause	Premature Menopause
T-cell lymphoma	T-Cell Lymphoma
Thyroid carcinoma	Thyroid carcinoma
Thyroid gland follicular adenoma	Thyroid Gland Follicular Adenoma
Thyroiditis	Thyroiditis
Tongue neoplasms	Tongue Neoplasms
Urticaria	Urticaria
Uveitis	Uveitis

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