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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	116028
Gene name	RecQ mediated genome instability 2
Gene symbol	RMI2
Synonyms (NCBI Gene)	BLAP18C16orf75
Chromosome	16
Chromosome location	16p13.13
Summary	RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM, Nov 2008]

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Show/Hide all (265)

miRTarBase ID	miRNA	Experiments	Reference
MIRT562773	hsa-miR-548at-5p	PAR-CLIP	20371350
MIRT562772	hsa-miR-4795-5p	PAR-CLIP	20371350
MIRT562771	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT562770	hsa-miR-3616-5p	PAR-CLIP	20371350
MIRT562769	hsa-miR-573	PAR-CLIP	20371350
MIRT562768	hsa-miR-4480	PAR-CLIP	20371350
MIRT562773	hsa-miR-548at-5p	PAR-CLIP	20371350
MIRT562772	hsa-miR-4795-5p	PAR-CLIP	20371350
MIRT562771	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT562770	hsa-miR-3616-5p	PAR-CLIP	20371350
MIRT562769	hsa-miR-573	PAR-CLIP	20371350
MIRT562768	hsa-miR-4480	PAR-CLIP	20371350
MIRT1308215	hsa-let-7a	CLIP-seq
MIRT1308216	hsa-let-7b	CLIP-seq
MIRT1308217	hsa-let-7c	CLIP-seq
MIRT1308218	hsa-let-7d	CLIP-seq
MIRT1308219	hsa-let-7e	CLIP-seq
MIRT1308220	hsa-let-7f	CLIP-seq
MIRT1308221	hsa-let-7g	CLIP-seq
MIRT1308222	hsa-let-7i	CLIP-seq
MIRT1308223	hsa-miR-1225-5p	CLIP-seq
MIRT1308224	hsa-miR-1252	CLIP-seq
MIRT1308225	hsa-miR-1253	CLIP-seq
MIRT1308226	hsa-miR-125a-3p	CLIP-seq
MIRT1308227	hsa-miR-1283	CLIP-seq
MIRT1308228	hsa-miR-1323	CLIP-seq
MIRT1308229	hsa-miR-1324	CLIP-seq
MIRT1308230	hsa-miR-181a	CLIP-seq
MIRT1308231	hsa-miR-181b	CLIP-seq
MIRT1308232	hsa-miR-181c	CLIP-seq
MIRT1308233	hsa-miR-181d	CLIP-seq
MIRT1308234	hsa-miR-216a	CLIP-seq
MIRT1308235	hsa-miR-2467-3p	CLIP-seq
MIRT1308236	hsa-miR-2467-5p	CLIP-seq
MIRT1308237	hsa-miR-3120-3p	CLIP-seq
MIRT1308238	hsa-miR-3121-3p	CLIP-seq
MIRT1308239	hsa-miR-3121-5p	CLIP-seq
MIRT1308240	hsa-miR-3123	CLIP-seq
MIRT1308241	hsa-miR-3133	CLIP-seq
MIRT1308242	hsa-miR-3140-3p	CLIP-seq
MIRT1308243	hsa-miR-3145-3p	CLIP-seq
MIRT1308244	hsa-miR-3148	CLIP-seq
MIRT1308245	hsa-miR-3163	CLIP-seq
MIRT1308246	hsa-miR-3166	CLIP-seq
MIRT1308247	hsa-miR-3182	CLIP-seq
MIRT1308248	hsa-miR-3189-3p	CLIP-seq
MIRT1308249	hsa-miR-3190	CLIP-seq
MIRT1308250	hsa-miR-330-3p	CLIP-seq
MIRT1308251	hsa-miR-33a	CLIP-seq
MIRT1308252	hsa-miR-33b	CLIP-seq
MIRT1308253	hsa-miR-34b	CLIP-seq
MIRT1308254	hsa-miR-3613-3p	CLIP-seq
MIRT1308255	hsa-miR-3618	CLIP-seq
MIRT1308256	hsa-miR-3622b-5p	CLIP-seq
MIRT1308257	hsa-miR-3646	CLIP-seq
MIRT1308258	hsa-miR-3647-5p	CLIP-seq
MIRT1308259	hsa-miR-3662	CLIP-seq
MIRT1308260	hsa-miR-3672	CLIP-seq
MIRT1308261	hsa-miR-3685	CLIP-seq
MIRT1308262	hsa-miR-3687	CLIP-seq
MIRT1308263	hsa-miR-3688-3p	CLIP-seq
MIRT1308264	hsa-miR-3713	CLIP-seq
MIRT1308265	hsa-miR-371-5p	CLIP-seq
MIRT1308266	hsa-miR-371b-5p	CLIP-seq
MIRT1308267	hsa-miR-3921	CLIP-seq
MIRT1308268	hsa-miR-3927	CLIP-seq
MIRT1308269	hsa-miR-3978	CLIP-seq
MIRT1308270	hsa-miR-4251	CLIP-seq
MIRT1308271	hsa-miR-4262	CLIP-seq
MIRT1308272	hsa-miR-4269	CLIP-seq
MIRT1308273	hsa-miR-4282	CLIP-seq
MIRT1308274	hsa-miR-4284	CLIP-seq
MIRT1308275	hsa-miR-4329	CLIP-seq
MIRT1308276	hsa-miR-4420	CLIP-seq
MIRT1308277	hsa-miR-4442	CLIP-seq
MIRT1308278	hsa-miR-4458	CLIP-seq
MIRT1308279	hsa-miR-4459	CLIP-seq
MIRT1308280	hsa-miR-4476	CLIP-seq
MIRT1308281	hsa-miR-4500	CLIP-seq
MIRT1308282	hsa-miR-450b-5p	CLIP-seq
MIRT1308283	hsa-miR-4511	CLIP-seq
MIRT1308284	hsa-miR-4514	CLIP-seq
MIRT1308285	hsa-miR-4528	CLIP-seq
MIRT1308286	hsa-miR-4533	CLIP-seq
MIRT1308287	hsa-miR-4650-3p	CLIP-seq
MIRT1308288	hsa-miR-4653-5p	CLIP-seq
MIRT1308289	hsa-miR-4680-5p	CLIP-seq
MIRT1308290	hsa-miR-4686	CLIP-seq
MIRT1308291	hsa-miR-4688	CLIP-seq
MIRT1308292	hsa-miR-4692	CLIP-seq
MIRT1308293	hsa-miR-4695-5p	CLIP-seq
MIRT1308294	hsa-miR-4699-3p	CLIP-seq
MIRT1308295	hsa-miR-4708-3p	CLIP-seq
MIRT1308296	hsa-miR-4711-3p	CLIP-seq
MIRT1308297	hsa-miR-4731-3p	CLIP-seq
MIRT1308298	hsa-miR-4733-3p	CLIP-seq
MIRT1308299	hsa-miR-4742-5p	CLIP-seq
MIRT1308300	hsa-miR-4764-3p	CLIP-seq
MIRT1308301	hsa-miR-4799-5p	CLIP-seq
MIRT1308302	hsa-miR-4801	CLIP-seq
MIRT1308303	hsa-miR-486-3p	CLIP-seq
MIRT1308304	hsa-miR-494	CLIP-seq
MIRT1308305	hsa-miR-507	CLIP-seq
MIRT1308306	hsa-miR-513a-3p	CLIP-seq
MIRT1308307	hsa-miR-520d-5p	CLIP-seq
MIRT1308308	hsa-miR-524-5p	CLIP-seq
MIRT1308309	hsa-miR-543	CLIP-seq
MIRT1308310	hsa-miR-545	CLIP-seq
MIRT1308311	hsa-miR-548aa	CLIP-seq
MIRT1308312	hsa-miR-548c-3p	CLIP-seq
MIRT1308313	hsa-miR-548l	CLIP-seq
MIRT1308314	hsa-miR-548n	CLIP-seq
MIRT1308315	hsa-miR-548o	CLIP-seq
MIRT1308316	hsa-miR-548p	CLIP-seq
MIRT1308317	hsa-miR-548t	CLIP-seq
MIRT1308318	hsa-miR-557	CLIP-seq
MIRT1308319	hsa-miR-587	CLIP-seq
MIRT1308320	hsa-miR-592	CLIP-seq
MIRT1308321	hsa-miR-597	CLIP-seq
MIRT1308322	hsa-miR-618	CLIP-seq
MIRT1308323	hsa-miR-665	CLIP-seq
MIRT1308324	hsa-miR-668	CLIP-seq
MIRT1308325	hsa-miR-877	CLIP-seq
MIRT1308326	hsa-miR-891a	CLIP-seq
MIRT1308327	hsa-miR-922	CLIP-seq
MIRT1308328	hsa-miR-98	CLIP-seq
MIRT1308223	hsa-miR-1225-5p	CLIP-seq
MIRT2091441	hsa-miR-1251	CLIP-seq
MIRT1308228	hsa-miR-1323	CLIP-seq
MIRT1308230	hsa-miR-181a	CLIP-seq
MIRT1308231	hsa-miR-181b	CLIP-seq
MIRT1308232	hsa-miR-181c	CLIP-seq
MIRT1308233	hsa-miR-181d	CLIP-seq
MIRT1308236	hsa-miR-2467-5p	CLIP-seq
MIRT1308237	hsa-miR-3120-3p	CLIP-seq
MIRT1308239	hsa-miR-3121-5p	CLIP-seq
MIRT1308241	hsa-miR-3133	CLIP-seq
MIRT1308243	hsa-miR-3145-3p	CLIP-seq
MIRT2091442	hsa-miR-3185	CLIP-seq
MIRT1308256	hsa-miR-3622b-5p	CLIP-seq
MIRT1308257	hsa-miR-3646	CLIP-seq
MIRT1308258	hsa-miR-3647-5p	CLIP-seq
MIRT1308259	hsa-miR-3662	CLIP-seq
MIRT1308271	hsa-miR-4262	CLIP-seq
MIRT1308272	hsa-miR-4269	CLIP-seq
MIRT1308274	hsa-miR-4284	CLIP-seq
MIRT1308279	hsa-miR-4459	CLIP-seq
MIRT2091443	hsa-miR-4496	CLIP-seq
MIRT1308283	hsa-miR-4511	CLIP-seq
MIRT1308284	hsa-miR-4514	CLIP-seq
MIRT1308289	hsa-miR-4680-5p	CLIP-seq
MIRT1308290	hsa-miR-4686	CLIP-seq
MIRT1308292	hsa-miR-4692	CLIP-seq
MIRT1308293	hsa-miR-4695-5p	CLIP-seq
MIRT1308297	hsa-miR-4731-3p	CLIP-seq
MIRT1308298	hsa-miR-4733-3p	CLIP-seq
MIRT1308299	hsa-miR-4742-5p	CLIP-seq
MIRT1308300	hsa-miR-4764-3p	CLIP-seq
MIRT1308301	hsa-miR-4799-5p	CLIP-seq
MIRT1308302	hsa-miR-4801	CLIP-seq
MIRT1308304	hsa-miR-494	CLIP-seq
MIRT1308307	hsa-miR-520d-5p	CLIP-seq
MIRT1308308	hsa-miR-524-5p	CLIP-seq
MIRT1308309	hsa-miR-543	CLIP-seq
MIRT1308310	hsa-miR-545	CLIP-seq
MIRT1308311	hsa-miR-548aa	CLIP-seq
MIRT1308315	hsa-miR-548o	CLIP-seq
MIRT1308316	hsa-miR-548p	CLIP-seq
MIRT2091444	hsa-miR-558	CLIP-seq
MIRT1308319	hsa-miR-587	CLIP-seq
MIRT1308322	hsa-miR-618	CLIP-seq
MIRT1308323	hsa-miR-665	CLIP-seq
MIRT1308215	hsa-let-7a	CLIP-seq
MIRT1308216	hsa-let-7b	CLIP-seq
MIRT1308217	hsa-let-7c	CLIP-seq
MIRT1308218	hsa-let-7d	CLIP-seq
MIRT1308219	hsa-let-7e	CLIP-seq
MIRT1308220	hsa-let-7f	CLIP-seq
MIRT1308221	hsa-let-7g	CLIP-seq
MIRT1308222	hsa-let-7i	CLIP-seq
MIRT2091441	hsa-miR-1251	CLIP-seq
MIRT1308226	hsa-miR-125a-3p	CLIP-seq
MIRT1308227	hsa-miR-1283	CLIP-seq
MIRT1308229	hsa-miR-1324	CLIP-seq
MIRT1308230	hsa-miR-181a	CLIP-seq
MIRT1308231	hsa-miR-181b	CLIP-seq
MIRT1308232	hsa-miR-181c	CLIP-seq
MIRT1308233	hsa-miR-181d	CLIP-seq
MIRT1308235	hsa-miR-2467-3p	CLIP-seq
MIRT1308236	hsa-miR-2467-5p	CLIP-seq
MIRT1308239	hsa-miR-3121-5p	CLIP-seq
MIRT1308243	hsa-miR-3145-3p	CLIP-seq
MIRT2316051	hsa-miR-3150b-3p	CLIP-seq
MIRT1308246	hsa-miR-3166	CLIP-seq
MIRT2091442	hsa-miR-3185	CLIP-seq
MIRT1308250	hsa-miR-330-3p	CLIP-seq
MIRT1308251	hsa-miR-33a	CLIP-seq
MIRT1308252	hsa-miR-33b	CLIP-seq
MIRT1308253	hsa-miR-34b	CLIP-seq
MIRT1308255	hsa-miR-3618	CLIP-seq
MIRT1308257	hsa-miR-3646	CLIP-seq
MIRT1308259	hsa-miR-3662	CLIP-seq
MIRT1308264	hsa-miR-3713	CLIP-seq
MIRT1308267	hsa-miR-3921	CLIP-seq
MIRT1308268	hsa-miR-3927	CLIP-seq
MIRT1308271	hsa-miR-4262	CLIP-seq
MIRT1308274	hsa-miR-4284	CLIP-seq
MIRT1308276	hsa-miR-4420	CLIP-seq
MIRT1308278	hsa-miR-4458	CLIP-seq
MIRT1308279	hsa-miR-4459	CLIP-seq
MIRT2091443	hsa-miR-4496	CLIP-seq
MIRT1308281	hsa-miR-4500	CLIP-seq
MIRT1308282	hsa-miR-450b-5p	CLIP-seq
MIRT1308283	hsa-miR-4511	CLIP-seq
MIRT1308287	hsa-miR-4650-3p	CLIP-seq
MIRT1308288	hsa-miR-4653-5p	CLIP-seq
MIRT1308289	hsa-miR-4680-5p	CLIP-seq
MIRT2316052	hsa-miR-4684-5p	CLIP-seq
MIRT1308291	hsa-miR-4688	CLIP-seq
MIRT2316053	hsa-miR-4689	CLIP-seq
MIRT1308293	hsa-miR-4695-5p	CLIP-seq
MIRT1308294	hsa-miR-4699-3p	CLIP-seq
MIRT1308298	hsa-miR-4733-3p	CLIP-seq
MIRT1308299	hsa-miR-4742-5p	CLIP-seq
MIRT1308300	hsa-miR-4764-3p	CLIP-seq
MIRT2316054	hsa-miR-4784	CLIP-seq
MIRT1308301	hsa-miR-4799-5p	CLIP-seq
MIRT2316055	hsa-miR-485-5p	CLIP-seq
MIRT1308303	hsa-miR-486-3p	CLIP-seq
MIRT1308304	hsa-miR-494	CLIP-seq
MIRT1308305	hsa-miR-507	CLIP-seq
MIRT1308306	hsa-miR-513a-3p	CLIP-seq
MIRT1308307	hsa-miR-520d-5p	CLIP-seq
MIRT1308308	hsa-miR-524-5p	CLIP-seq
MIRT1308309	hsa-miR-543	CLIP-seq
MIRT1308318	hsa-miR-557	CLIP-seq
MIRT2091444	hsa-miR-558	CLIP-seq
MIRT1308319	hsa-miR-587	CLIP-seq
MIRT1308320	hsa-miR-592	CLIP-seq
MIRT1308321	hsa-miR-597	CLIP-seq
MIRT1308322	hsa-miR-618	CLIP-seq
MIRT1308323	hsa-miR-665	CLIP-seq
MIRT1308324	hsa-miR-668	CLIP-seq
MIRT1308325	hsa-miR-877	CLIP-seq
MIRT1308326	hsa-miR-891a	CLIP-seq
MIRT1308327	hsa-miR-922	CLIP-seq
MIRT2316056	hsa-miR-942	CLIP-seq
MIRT1308328	hsa-miR-98	CLIP-seq
MIRT1308228	hsa-miR-1323	CLIP-seq
MIRT1308237	hsa-miR-3120-3p	CLIP-seq
MIRT1308310	hsa-miR-545	CLIP-seq
MIRT1308311	hsa-miR-548aa	CLIP-seq
MIRT1308315	hsa-miR-548o	CLIP-seq
MIRT1308316	hsa-miR-548p	CLIP-seq
MIRT2316051	hsa-miR-3150b-3p	CLIP-seq
MIRT2091442	hsa-miR-3185	CLIP-seq
MIRT1308251	hsa-miR-33a	CLIP-seq
MIRT1308252	hsa-miR-33b	CLIP-seq
MIRT2458293	hsa-miR-4502	CLIP-seq
MIRT1308282	hsa-miR-450b-5p	CLIP-seq
MIRT2316053	hsa-miR-4689	CLIP-seq
MIRT2316054	hsa-miR-4784	CLIP-seq
MIRT1308305	hsa-miR-507	CLIP-seq
MIRT1308318	hsa-miR-557	CLIP-seq
MIRT2458294	hsa-miR-628-5p	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	23543748
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	20711169, 20826341, 20826342, 28514442, 29997244, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	23543748
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0006260	Process	DNA replication	IEA
GO:0006281	Process	DNA repair	IBA
GO:0016607	Component	Nuclear speck	IBA
GO:0016607	Component	Nuclear speck	IDA
GO:0031422	Component	RecQ family helicase-topoisomerase III complex	IPI	24984776
GO:0033045	Process	Regulation of sister chromatid segregation	IBA
GO:0033045	Process	Regulation of sister chromatid segregation	IMP	27977684
GO:0043007	Process	Maintenance of rDNA	IBA
GO:0071139	Process	Resolution of DNA recombination intermediates	IDA	23543748
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IBA

MIM	HGNC	e!Ensembl
612426	28349	ENSG00000175643

Q96E14

Protein name

RecQ-mediated genome instability protein 2 (hRMI2) (BLM-associated protein of 18 kDa) (BLAP18)

Protein function

Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates. It is required to regulate sister chromatid segregation and to limit DNA crossover. Essential for the sta

PDB

3MXN , 3NBH , 4DAY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16100	RMI2	21 → 143	RecQ-mediated genome instability protein 2	Family

Sequence

MAAAADSFSGGPAGVRLPRSPPLKVLAEQLRRDAEGGPGAWRLSRAAAGRGPLDLAAVWM
QGRVVMADRGEARLRDPSGDFSVRGLERVPRGRPCLVPGKYVMVMGVVQACSPEPCLQAV
KMTDLSDNPIHESMWELEVEDLHRNIP

Sequence length

147

Interactions

View interactions

	KEGG		Reactome
	Fanconi anemia pathway		HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Resolution of D-loop Structures through Holliday Junction Intermediates Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint

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 Unknown Diseases (28)

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.
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BULIMIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGOARTICULAR JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYARTICULAR JUVENILE IDIOPATHIC ARTHRITIS, RHEUMATOID FACTOR NEGATIVE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS VULGARIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	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
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (41)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult type dermatomyositis	Dermatomyositis	BEFREE	7575689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASDB_DG	21150878		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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	GWASDB_DG	21383967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	18923071, 21399624, 26556339, 27977684, 33500419, 35119917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	27977684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36533385	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35552266	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34634948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASCAT_DG	20190752		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASDB_DG	20190752		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	22482804, 26192919, 26974007, 28067908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	7575689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	7575689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	25751624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASDB_DG	21383967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233, 26192919, 28067908		★★★★★ ★☆☆☆☆ Found in Text Mining only
	Intrauterine Growth Restriction, Congenital Multiple Caf -Au-Lait Macules-Increased Sister Chromatid Exchange Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile pauciarticular chronic arthritis	Pauciarticular chronic arthritis	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	GWASCAT_DG	25642632		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	22190364, 24076602		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	7575689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	GWASCAT_DG	23603761		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative	Seronegative polyarthritis	GWASCAT_DG	23603761		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	22936693, 22961000		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	GWASCAT_DG	22961000		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary sclerosing cholangitis	Sclerosing Cholangitis	GWASDB_DG	23603763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	22482804, 23143594, 26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASDB_DG	22482804, 23143594		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	GWASCAT_DG	26626624		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis, Systemic Juvenile	Rheumatoid arthritis	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

RMI2 (RecQ mediated genome instability 2)