Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10125
Gene name	RAS guanyl releasing protein 1
Gene symbol	RASGRP1
Synonyms (NCBI Gene)	CALDAG-GEFICALDAG-GEFIIIMD64RASGRP
Chromosome	15
Chromosome location	15q14
Summary	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

221

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miRTarBase ID	miRNA	Experiments	Reference
MIRT000019	hsa-miR-21-5p	qRT-PCRLuciferase reporter assayWestern blot	20483747
MIRT000019	hsa-miR-21-5p	qRT-PCRLuciferase reporter assayWestern 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 assayWestern blot	26794609
MIRT053585	hsa-miR-29a-3p	Luciferase reporter assayWestern 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

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Transcription factor	Regulation	Reference
E2F1	Activation	18396012

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	21968647
GO:0001934	Process	Positive regulation of protein phosphorylation	IMP	23908768
GO:0002437	Process	Inflammatory response to antigenic stimulus	IEA
GO:0002684	Process	Positive regulation of immune system process	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	23908768
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS	9789079
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	IMP	23908768
GO:0005509	Function	Calcium ion binding	TAS	9582122
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	21968647
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	TAS	9789079
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	IBA
GO:0007265	Process	Ras protein signal transduction	TAS	9582122
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	IMP	23908768
GO:0008289	Function	Lipid binding	TAS	9582122
GO:0016020	Component	Membrane	IEA
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:0030695	Function	GTPase regulator activity	IEA
GO:0031210	Function	Phosphatidylcholine binding	IMP	23908768
GO:0032252	Process	Secretory granule localization	IEA
GO:0032816	Process	Positive regulation of natural killer cell activation	IEA
GO:0032825	Process	Positive regulation of natural killer cell differentiation	IEA
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	IEA
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:0043303	Process	Mast cell degranulation	IEA
GO:0043406	Process	Positive regulation of MAP kinase activity	IMP	15899849
GO:0045321	Process	Leukocyte activation	IEA
GO:0045954	Process	Positive regulation of natural killer cell mediated cytotoxicity	IMP	19933860
GO:0046579	Process	Positive regulation of Ras protein signal transduction	IMP	19933860
GO:0046872	Function	Metal ion binding	IEA
GO:0047496	Process	Vesicle transport along microtubule	IEA
GO:0051896	Process	Regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	IMP	23908768
GO:0090630	Process	Activation of GTPase activity	IDA	10807788
GO:0090630	Process	Activation of GTPase activity	IMP	12845332
GO:1902531	Process	Regulation of intracellular signal transduction	IEA

MIM	HGNC	e!Ensembl
603962	9878	ENSG00000172575

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

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain with higher expression in cerebellum, cerebral cortex and amygdala. Expressed in the hematopoietic system. Expressed in T-cells (at protein level). Expressed in NK cells (at protein level) (PubMed:19933860). {ECO:000

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Immunodeficiency 64	Likely pathogenic; Pathogenic	rs772305736, rs2542871866, rs1566907313, rs1408683294, rs1595843113, rs1595848141, rs779560450, rs1595816926	RCV001784903 RCV003142239 RCV005631256 RCV000824710 RCV000824711 RCV000824712 RCV000824713 RCV000824714 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (32)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 1, AUTOSOMAL DOMINANT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 2B	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-INDUCED LYMPHOPROLIFERATIVE DISEASE DUE TO RASGRP1 DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 64 WITH LYMPHOPROLIFERATION	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RASGRP1-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (109)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	23532335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	21441929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	21441929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	29282224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	26714738	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	27902448		★★★★★ ★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	17878389, 30030704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	23908768, 35204828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	29155103		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	ORPHANET_DG	29155103		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Lymphoproliferative Syndrome	Autoimmune lymphoproliferative disorder	Pubtator	29155103	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune lymphoproliferative syndrome	Autoimmune Lymphoproliferative Disorder	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28822832, 30030704		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	21866111, 27902448		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	21866111		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	40562893	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	26164464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31638237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31638237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	34104083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26005835, 31237864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	28822832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coombs positive hemolytic anemia	Coombs Positive Hemolytic Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26192919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystitis Interstitial	Interstitial cystitis	Pubtator	36619718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31120617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30907055	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31120617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	19465406, 21829393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	22961080	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	19465406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	25751624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	22961080, 26076219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	22961080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	22961080, 30718926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilia	Eosinophilia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	28822832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia verruciformis	Pubtator	28822832	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroadenoma of breast	Fibroadenoma Of Breast	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	Pubtator	31075877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	27804980	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	27268232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	27268232	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	29282224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	29282224	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31120617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersplenism	Hypersplenism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	27804980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	GENOMICS_ENGLAND_DG	27776107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	32260174	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21441929, 22817869, 22920396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	21441929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	15829980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	Pubtator	17576779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukocyte Adhesion Deficiency Type III	Leukocyte adhesion deficiency	Pubtator	17576779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Libman-Sacks Disease	Nonbacterial verrucal endocardiosis	CTD_human_DG	26808113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17878389, 26808113, 37426642	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	17878389, 29905030		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	CTD_human_DG	26808113		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	BEFREE	15829980, 28822832, 30030704, 30099695, 31402499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	28822832	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	30030704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	30030704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31638237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15829980, 22116551, 26549032, 27890930, 30030704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	31691004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	24076602		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	31237864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	22116551, 26549032, 29799846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	23143596, 24390342, 24532676, 30423114		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	23143596		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	23143596, 24390342		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	35204828	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Septicemia	Septicemia	BEFREE	31679751		★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	15829980		★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29748761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	29748761, 34104083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

RASGRP1 (RAS guanyl releasing protein 1)