RMI2 (RecQ mediated genome instability 2)

Gene

• Entrez ID: 116028
• Gene name: RecQ mediated genome instability 2
• Gene symbol: RMI2
• Synonyms: BLAP18, C16orf75
• 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]

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	20711169, 28514442, 29997244
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0006260	Process	DNA replication	TAS
GO:0006281	Process	DNA repair	IBA	21873635
GO:0016607	Component	Nuclear speck	IBA	21873635
GO:0016607	Component	Nuclear speck	IDA
GO:0033045	Process	Regulation of sister chromatid segregation	IBA	21873635
GO:0033045	Process	Regulation of sister chromatid segregation	IMP	27977684
GO:0043007	Process	Maintenance of rDNA	IBA	21873635
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IBA	21873635

Other IDs

• MIM: 612426
• HGNC: 28349
• e!Ensembl: ENSG00000175643

Protein

• UniProt ID: 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

Pathways

KEGG:

Fanconi anemia pathway

Reactome:

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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Systemic onset juvenile chronic arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	23603761
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	21150878
Autoimmune diseases	Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	rs41285370, rs869025224	30595370, 21383967, 30595370
Diabetes mellitus	Diabetes Mellitus, 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
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	28067908, 23128233, 26192919
Leprosy	Leprosy	rs121917864, rs2239704	25642632
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	22190364, 24076602
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	23143594, 22482804, 26974007
Rheumatoid arthritis	Rheumatoid Arthritis, Systemic Juvenile	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	23603761

Unknown
Disease name	Disease term	dbSNP ID	References
Ankylosing spondylitis	Ankylosing spondylitis		26974007
Celiac disease	Celiac Disease	rs2305764, rs35218876	20190752
Cholangitis	Cholangitis, Sclerosing		26974007
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	26192919, 22482804, 28067908, 26974007
Eczema	Eczema		30595370
Immune system diseases	Immune System Diseases		21383967
Intrauterine growth restriction, congenital multiple caf -au-lait macules-increased sister chromatid exchange syndrome	Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
Oligoarticular arthritis	Oligoarticular Juvenile Idiopathic Arthritis		23603761
Pauciarticular chronic arthritis	Juvenile pauciarticular chronic arthritis		23603761
Seronegative polyarthritis	Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative		23603761
Biliary cirrhosis	Primary biliary cirrhosis		22961000, 22936693
Psoriasis vulgaris	Psoriasis vulgaris		26626624
Sclerosing cholangitis	Primary sclerosing cholangitis		23603763
Still disease	Juvenile-Onset Still Disease		23603761
Ulcerative colitis	Ulcerative Colitis		26974007