MARS2 (methionyl-tRNA synthetase 2, mitochondrial)

Gene

• Entrez ID: 92935
• Gene name: Methionyl-tRNA synthetase 2, mitochondrial
• Gene symbol: MARS2
• Synonyms (NCBI Gene): COXPD25, MetRS, mtMetRS
• Disease Acronyms (UniProt): COXPD25
• Chromosome: 2
• Chromosome location: 2q33.1
• Summary: This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs754121141	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs757649757	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs794726869	C>T	Pathogenic	Coding sequence variant, stop gained
rs794726870	C>T	Pathogenic	Coding sequence variant, missense variant
rs1340079929	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553608221	GGCAACCCTCAGGCGATCACCCCCGAACCATTTCATCACGTAGTTCTTCAGTGGCTGGACGAGGAGCTGCCCGACCTGTCCGTGTCTCGCAGAAGTAGCCACTTGCACTGGGGCATTCCGGTGCCCGGGGATGATTCGCAGACCATCTATGTATGGCTGGATGCCCTGGTCAACTACCTCACTGTAATTGGCTACCCAAATGCTGAGTTCAAATCTTGGTGGCCGGCCACCTCTCATATCATAGGTAAGGACATT	Pathogenic	Frameshift variant, coding sequence variant
rs1559379585	A>T	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001618	hsa-let-7b-5p	pSILAC	18668040
MIRT045487	hsa-miR-149-5p	CLASH	23622248
MIRT564172	hsa-miR-3173-3p	PAR-CLIP	20371350
MIRT564170	hsa-miR-6891-5p	PAR-CLIP	20371350
MIRT564171	hsa-miR-4695-5p	PAR-CLIP	20371350
MIRT564169	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT564168	hsa-miR-1252-5p	PAR-CLIP	20371350
MIRT564167	hsa-miR-4533	PAR-CLIP	20371350
MIRT564166	hsa-miR-3202	PAR-CLIP	20371350
MIRT564165	hsa-miR-3612	PAR-CLIP	20371350
MIRT564164	hsa-miR-650	PAR-CLIP	20371350
MIRT564163	hsa-miR-6079	PAR-CLIP	20371350
MIRT001618	hsa-let-7b-5p	PAR-CLIP	26701625
MIRT564172	hsa-miR-3173-3p	PAR-CLIP	20371350
MIRT564170	hsa-miR-6891-5p	PAR-CLIP	20371350
MIRT564171	hsa-miR-4695-5p	PAR-CLIP	20371350
MIRT564169	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT564168	hsa-miR-1252-5p	PAR-CLIP	20371350
MIRT564167	hsa-miR-4533	PAR-CLIP	20371350
MIRT564166	hsa-miR-3202	PAR-CLIP	20371350
MIRT564165	hsa-miR-3612	PAR-CLIP	20371350
MIRT564164	hsa-miR-650	PAR-CLIP	20371350
MIRT564163	hsa-miR-6079	PAR-CLIP	20371350
MIRT1132764	hsa-let-7a	CLIP-seq
MIRT1132765	hsa-let-7b	CLIP-seq
MIRT1132766	hsa-let-7c	CLIP-seq
MIRT1132767	hsa-let-7d	CLIP-seq
MIRT1132768	hsa-let-7e	CLIP-seq
MIRT1132769	hsa-let-7f	CLIP-seq
MIRT1132770	hsa-let-7g	CLIP-seq
MIRT1132771	hsa-let-7i	CLIP-seq
MIRT1132772	hsa-miR-1245	CLIP-seq
MIRT1132773	hsa-miR-1253	CLIP-seq
MIRT1132774	hsa-miR-1261	CLIP-seq
MIRT1132775	hsa-miR-1273g	CLIP-seq
MIRT1132776	hsa-miR-196a	CLIP-seq
MIRT1132777	hsa-miR-196b	CLIP-seq
MIRT1132778	hsa-miR-1972	CLIP-seq
MIRT1132779	hsa-miR-202	CLIP-seq
MIRT1132780	hsa-miR-21	CLIP-seq
MIRT1132781	hsa-miR-2467-3p	CLIP-seq
MIRT1132782	hsa-miR-27a	CLIP-seq
MIRT1132783	hsa-miR-27b	CLIP-seq
MIRT1132784	hsa-miR-3074-5p	CLIP-seq
MIRT1132785	hsa-miR-3124-3p	CLIP-seq
MIRT1132786	hsa-miR-3157-3p	CLIP-seq
MIRT1132787	hsa-miR-3545-3p	CLIP-seq
MIRT1132788	hsa-miR-3653	CLIP-seq
MIRT1132789	hsa-miR-3658	CLIP-seq
MIRT1132790	hsa-miR-3692	CLIP-seq
MIRT1132791	hsa-miR-3923	CLIP-seq
MIRT1132792	hsa-miR-3941	CLIP-seq
MIRT1132793	hsa-miR-4251	CLIP-seq
MIRT1132794	hsa-miR-4293	CLIP-seq
MIRT1132795	hsa-miR-4317	CLIP-seq
MIRT1132796	hsa-miR-4318	CLIP-seq
MIRT1132797	hsa-miR-4324	CLIP-seq
MIRT1132798	hsa-miR-455-5p	CLIP-seq
MIRT1132799	hsa-miR-466	CLIP-seq
MIRT1132800	hsa-miR-4672	CLIP-seq
MIRT1132801	hsa-miR-4699-3p	CLIP-seq
MIRT1132802	hsa-miR-4717-3p	CLIP-seq
MIRT1132803	hsa-miR-4731-3p	CLIP-seq
MIRT1132804	hsa-miR-4755-3p	CLIP-seq
MIRT1132805	hsa-miR-4801	CLIP-seq
MIRT1132806	hsa-miR-4802-3p	CLIP-seq
MIRT1132807	hsa-miR-490-5p	CLIP-seq
MIRT1132808	hsa-miR-491-3p	CLIP-seq
MIRT1132809	hsa-miR-495	CLIP-seq
MIRT1132810	hsa-miR-501-3p	CLIP-seq
MIRT1132811	hsa-miR-502-3p	CLIP-seq
MIRT1132812	hsa-miR-5096	CLIP-seq
MIRT1132813	hsa-miR-513a-5p	CLIP-seq
MIRT1132814	hsa-miR-520d-5p	CLIP-seq
MIRT1132815	hsa-miR-524-5p	CLIP-seq
MIRT1132816	hsa-miR-548aa	CLIP-seq
MIRT1132817	hsa-miR-548ac	CLIP-seq
MIRT1132818	hsa-miR-548d-3p	CLIP-seq
MIRT1132819	hsa-miR-548z	CLIP-seq
MIRT1132820	hsa-miR-570	CLIP-seq
MIRT1132821	hsa-miR-579	CLIP-seq
MIRT1132822	hsa-miR-590-5p	CLIP-seq
MIRT1132823	hsa-miR-596	CLIP-seq
MIRT1132824	hsa-miR-874	CLIP-seq
MIRT1132825	hsa-miR-938	CLIP-seq
MIRT1132826	hsa-miR-98	CLIP-seq
MIRT1132775	hsa-miR-1273g	CLIP-seq
MIRT1132796	hsa-miR-4318	CLIP-seq
MIRT1132764	hsa-let-7a	CLIP-seq
MIRT1132765	hsa-let-7b	CLIP-seq
MIRT1132766	hsa-let-7c	CLIP-seq
MIRT1132767	hsa-let-7d	CLIP-seq
MIRT1132768	hsa-let-7e	CLIP-seq
MIRT1132769	hsa-let-7f	CLIP-seq
MIRT1132770	hsa-let-7g	CLIP-seq
MIRT1132771	hsa-let-7i	CLIP-seq
MIRT1132772	hsa-miR-1245	CLIP-seq
MIRT2037853	hsa-miR-1252	CLIP-seq
MIRT1132775	hsa-miR-1273g	CLIP-seq
MIRT1132776	hsa-miR-196a	CLIP-seq
MIRT1132777	hsa-miR-196b	CLIP-seq
MIRT1132778	hsa-miR-1972	CLIP-seq
MIRT1132781	hsa-miR-2467-3p	CLIP-seq
MIRT1132785	hsa-miR-3124-3p	CLIP-seq
MIRT2037854	hsa-miR-3617	CLIP-seq
MIRT1132789	hsa-miR-3658	CLIP-seq
MIRT2037855	hsa-miR-4310	CLIP-seq
MIRT1132796	hsa-miR-4318	CLIP-seq
MIRT1132802	hsa-miR-4717-3p	CLIP-seq
MIRT1132804	hsa-miR-4755-3p	CLIP-seq
MIRT1132809	hsa-miR-495	CLIP-seq
MIRT1132816	hsa-miR-548aa	CLIP-seq
MIRT1132817	hsa-miR-548ac	CLIP-seq
MIRT1132818	hsa-miR-548d-3p	CLIP-seq
MIRT1132819	hsa-miR-548z	CLIP-seq
MIRT2037856	hsa-miR-641	CLIP-seq
MIRT1132826	hsa-miR-98	CLIP-seq
MIRT1132764	hsa-let-7a	CLIP-seq
MIRT1132765	hsa-let-7b	CLIP-seq
MIRT1132766	hsa-let-7c	CLIP-seq
MIRT1132767	hsa-let-7d	CLIP-seq
MIRT1132768	hsa-let-7e	CLIP-seq
MIRT1132769	hsa-let-7f	CLIP-seq
MIRT1132770	hsa-let-7g	CLIP-seq
MIRT1132771	hsa-let-7i	CLIP-seq
MIRT1132772	hsa-miR-1245	CLIP-seq
MIRT1132773	hsa-miR-1253	CLIP-seq
MIRT2267883	hsa-miR-1269	CLIP-seq
MIRT2267884	hsa-miR-1269b	CLIP-seq
MIRT1132775	hsa-miR-1273g	CLIP-seq
MIRT2267885	hsa-miR-141	CLIP-seq
MIRT1132776	hsa-miR-196a	CLIP-seq
MIRT1132777	hsa-miR-196b	CLIP-seq
MIRT1132778	hsa-miR-1972	CLIP-seq
MIRT2267886	hsa-miR-200a	CLIP-seq
MIRT1132780	hsa-miR-21	CLIP-seq
MIRT1132781	hsa-miR-2467-3p	CLIP-seq
MIRT1132782	hsa-miR-27a	CLIP-seq
MIRT1132783	hsa-miR-27b	CLIP-seq
MIRT2267887	hsa-miR-28-5p	CLIP-seq
MIRT2267888	hsa-miR-3139	CLIP-seq
MIRT2267889	hsa-miR-361-5p	CLIP-seq
MIRT2037854	hsa-miR-3617	CLIP-seq
MIRT2267890	hsa-miR-3622a-3p	CLIP-seq
MIRT2267891	hsa-miR-3622b-3p	CLIP-seq
MIRT2267892	hsa-miR-3646	CLIP-seq
MIRT1132788	hsa-miR-3653	CLIP-seq
MIRT1132789	hsa-miR-3658	CLIP-seq
MIRT1132790	hsa-miR-3692	CLIP-seq
MIRT2267893	hsa-miR-3919	CLIP-seq
MIRT1132791	hsa-miR-3923	CLIP-seq
MIRT2267894	hsa-miR-3936	CLIP-seq
MIRT1132792	hsa-miR-3941	CLIP-seq
MIRT1132793	hsa-miR-4251	CLIP-seq
MIRT2267895	hsa-miR-4269	CLIP-seq
MIRT1132796	hsa-miR-4318	CLIP-seq
MIRT2267896	hsa-miR-4496	CLIP-seq
MIRT2267897	hsa-miR-4529-3p	CLIP-seq
MIRT1132798	hsa-miR-455-5p	CLIP-seq
MIRT1132799	hsa-miR-466	CLIP-seq
MIRT1132800	hsa-miR-4672	CLIP-seq
MIRT2267898	hsa-miR-4690-5p	CLIP-seq
MIRT1132803	hsa-miR-4731-3p	CLIP-seq
MIRT2267899	hsa-miR-4753-3p	CLIP-seq
MIRT1132804	hsa-miR-4755-3p	CLIP-seq
MIRT2267900	hsa-miR-4766-3p	CLIP-seq
MIRT2267901	hsa-miR-4766-5p	CLIP-seq
MIRT1132805	hsa-miR-4801	CLIP-seq
MIRT2267902	hsa-miR-488	CLIP-seq
MIRT1132809	hsa-miR-495	CLIP-seq
MIRT1132812	hsa-miR-5096	CLIP-seq
MIRT1132813	hsa-miR-513a-5p	CLIP-seq
MIRT2267903	hsa-miR-539	CLIP-seq
MIRT1132816	hsa-miR-548aa	CLIP-seq
MIRT1132817	hsa-miR-548ac	CLIP-seq
MIRT1132818	hsa-miR-548d-3p	CLIP-seq
MIRT1132819	hsa-miR-548z	CLIP-seq
MIRT1132821	hsa-miR-579	CLIP-seq
MIRT1132822	hsa-miR-590-5p	CLIP-seq
MIRT2037856	hsa-miR-641	CLIP-seq
MIRT2267904	hsa-miR-708	CLIP-seq
MIRT2267905	hsa-miR-873	CLIP-seq
MIRT1132826	hsa-miR-98	CLIP-seq
MIRT1132764	hsa-let-7a	CLIP-seq
MIRT1132765	hsa-let-7b	CLIP-seq
MIRT1132766	hsa-let-7c	CLIP-seq
MIRT1132767	hsa-let-7d	CLIP-seq
MIRT1132768	hsa-let-7e	CLIP-seq
MIRT1132769	hsa-let-7f	CLIP-seq
MIRT1132770	hsa-let-7g	CLIP-seq
MIRT1132771	hsa-let-7i	CLIP-seq
MIRT1132775	hsa-miR-1273g	CLIP-seq
MIRT1132776	hsa-miR-196a	CLIP-seq
MIRT1132777	hsa-miR-196b	CLIP-seq
MIRT1132778	hsa-miR-1972	CLIP-seq
MIRT1132796	hsa-miR-4318	CLIP-seq
MIRT1132804	hsa-miR-4755-3p	CLIP-seq
MIRT1132816	hsa-miR-548aa	CLIP-seq
MIRT1132817	hsa-miR-548ac	CLIP-seq
MIRT1132818	hsa-miR-548d-3p	CLIP-seq
MIRT1132819	hsa-miR-548z	CLIP-seq
MIRT1132826	hsa-miR-98	CLIP-seq
MIRT2567534	hsa-miR-4725-5p	CLIP-seq
MIRT2567535	hsa-miR-504	CLIP-seq
MIRT1132764	hsa-let-7a	CLIP-seq
MIRT1132765	hsa-let-7b	CLIP-seq
MIRT1132766	hsa-let-7c	CLIP-seq
MIRT1132767	hsa-let-7d	CLIP-seq
MIRT1132768	hsa-let-7e	CLIP-seq
MIRT1132769	hsa-let-7f	CLIP-seq
MIRT1132770	hsa-let-7g	CLIP-seq
MIRT1132771	hsa-let-7i	CLIP-seq
MIRT1132773	hsa-miR-1253	CLIP-seq
MIRT1132776	hsa-miR-196a	CLIP-seq
MIRT1132777	hsa-miR-196b	CLIP-seq
MIRT1132778	hsa-miR-1972	CLIP-seq
MIRT1132781	hsa-miR-2467-3p	CLIP-seq
MIRT1132793	hsa-miR-4251	CLIP-seq
MIRT1132794	hsa-miR-4293	CLIP-seq
MIRT1132797	hsa-miR-4324	CLIP-seq
MIRT2567534	hsa-miR-4725-5p	CLIP-seq
MIRT1132804	hsa-miR-4755-3p	CLIP-seq
MIRT2567535	hsa-miR-504	CLIP-seq
MIRT1132816	hsa-miR-548aa	CLIP-seq
MIRT1132817	hsa-miR-548ac	CLIP-seq
MIRT1132818	hsa-miR-548d-3p	CLIP-seq
MIRT1132819	hsa-miR-548z	CLIP-seq
MIRT1132823	hsa-miR-596	CLIP-seq
MIRT1132826	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004825	Function	Methionine-tRNA ligase activity	IBA	21873635
GO:0004825	Function	Methionine-tRNA ligase activity	IDA	15274629
GO:0004825	Function	Methionine-tRNA ligase activity	TAS
GO:0005524	Function	ATP binding	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	15274629
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006431	Process	Methionyl-tRNA aminoacylation	IBA	21873635
GO:0006431	Process	Methionyl-tRNA aminoacylation	IDA	15274629

Other IDs

• MIM: 609728
• HGNC: 25133
• e!Ensembl: ENSG00000247626

Protein

• UniProt ID: Q96GW9
• Protein name: Methionine--tRNA ligase, mitochondrial (EC 6.1.1.10) (Methionyl-tRNA synthetase 2) (Mitochondrial methionyl-tRNA synthetase) (MtMetRS)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09334	tRNA-synt_1g	45 → 411	tRNA synthetases class I (M)	Family

• Sequence:

  MLRTSVLRLLGRTGASRLSLLEDFGPRYYSSGSLSAGDDACDVRAYFTTPIFYVNAAPHI
  GHLYSALLADALCRHRRLRGPSTAATRFSTGTDEHGLKIQQAAATAGLAPTELCDRVSEQ
  FQQLFQEAGISCTDFIRTTEARHRVAVQHFWGVLKSRGLLYKGVYEGWYCASDECFLPEA
  KVTQQPGPSGDSFPVSLESGHPVSWTKEENYIFRLSQFRKPLQRWLRGNPQAITPEPFHH
  VVLQWLDEELPDLSVSRRSSHLHWGIPVPGDDSQTIYVWLDALVNYLTVIGYPNAEFKSW
  WPATSHIIGKDILKFHAIYWPAFLLGAGMSPPQRICVHSHWTVCGQKMSKSLGNVVDPRT
  CLNRYTVDGFRYFLLRQGVPNWDCDYYDEKVVKLLNSELADALGGLLNRCTAKRINPSET
  YPAFCTTCFPSEPGLVGPSVRAQAEDYALVSAVATLPKQVADHYDNFRIYKALEAVSSCV
  RQTNGFVQRHAPWKLNWESPVDAPWLGTVLHVALECLRVFGTLLQPVTPSLADKLLSRLG
  VSASERSLGELYFLPRFYGHPCPFEGRRLGPETGLLFPRLDQSRTWLVKAHRT

• Sequence length: 593

Pathways

KEGG:

Selenocompound metabolism
Aminoacyl-tRNA biosynthesis
Metabolic pathways

Reactome:

Mitochondrial tRNA aminoacylation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Ataxia	Ataxia, Spastic, 3, Autosomal Recessive	rs606231134, rs119103243, rs119103244, rs119103245, rs606231135, rs119468005, rs119468006, rs387906298, rs606231138, rs606231139, rs119468008, rs387906299, rs606231292, rs1553281318, rs794727986, rs1563130387, rs797045109, rs797045217, rs578189699, rs797046025, rs797046024, rs797046026, rs764847439, rs780451185, rs863224929, rs771578775, rs755933881, rs199874519, rs1085307053, rs886042265, rs201908721, rs747150601, rs1057519343, rs752130338, rs748118737, rs781518112, rs140246430, rs1554553667, rs1554573328, rs1554676394, rs1554753528, rs1203553546, rs1554829141, rs974677376, rs763325410, rs1554721227, rs1554226673, rs1554768245, rs1553280621, rs755531859, rs765966679, rs1554247806, rs750544827, rs768958602, rs1563941569, rs1564136499, rs1269308421, rs767584322, rs751637699, rs759460806, rs1271428051, rs752224921, rs1572040505, rs767406263, rs1590463470, rs771955377, rs1659738028	27604308, 22448145, 16672289, 25754315
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Combined oxidative phosphorylation deficiency	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, Combined oxidative phosphorylation defect type 25	rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517, rs397514613, rs397514614, rs200286768, rs397515463, rs397515464, rs397515465, rs397515466, rs587777218, rs587777244, rs587777417, rs587777418, rs587777419, rs587777583, rs587777584, rs587777585, rs587777589, rs587777591, rs587777593, rs587777594, rs115079861, rs587777788, rs144972972, rs606231472, rs869320746, rs886037734, rs730880255, rs886037735, rs886037736, rs730882154, rs730882155, rs794726869, rs114638163, rs143712760, rs780383722, rs200105202, rs1554169353, rs751459058, rs775690041, rs863224897, rs863225449, rs869025313, rs869025314, rs869025315, rs781798317, rs754022333, rs869320703, rs869320704, rs771894262, rs764427452, rs879255657, rs778100619, rs759477396, rs1057518742, rs1057518743, rs1057517685, rs1057519299, rs1057523346, rs1057524183, rs1060502161, rs184469579, rs1064794140, rs755122704, rs1064797230, rs202183509, rs1131691396, rs1131692037, rs1161932777, rs144042123, rs777725264, rs563189672, rs763672163, rs746538436, rs1554042187, rs767427194, rs1555532483, rs1394499137, rs1555532484, rs763658299, rs763770476, rs199863563, rs148620369, rs1554147776, rs761385155, rs1555575927, rs1555576642, rs1554169280, rs1407198979, rs1274363168, rs1555726849, rs770871640, rs1555404423, rs924099073, rs775439829, rs1554268077, rs1308121771, rs1047420796, rs1322974029, rs751069628, rs368934219, rs761709212, rs1555342802, rs761334309, rs1554116357, rs536000212, rs565910322, rs376766195, rs1562168768, rs763443331, rs1370579526, rs755068980, rs1567773277, rs761097220, rs780533096, rs746356243, rs1559114055, rs752550279, rs1559094461, rs146988468, rs1561990552, rs1298860043, rs746746116, rs1568293849, rs1559359546, rs1561938413, rs565224393, rs1565216037, rs1035101172, rs1565235204, rs763770414, rs764714439, rs777185638, rs1169927428, rs1229314240, rs1429774361, rs374954001, rs1599560256, rs1582724664, rs1574663066, rs778120270, rs1574675683, rs1365308037, rs1582970514, rs777028011, rs1582957532, rs1170907347, rs773688171, rs1777047446, rs947204455, rs1049082567, rs754537066, rs758094541, rs1689552727, rs2077262520, rs748779965, rs1785349774	25754315
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Leukoencephalopathy	Leukoencephalopathy	rs34757931
Mental retardation	Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spastic ataxia	Spastic Ataxia	rs72555372, rs74315473, rs281865117, rs281865118, rs137853016, rs2137634136, rs137853017, rs606231163, rs137853018, rs137853019, rs2137724246, rs2137716138, rs267606900, rs387906889, rs281865120, rs397509404, rs386833661, rs386834157, rs1553608221, rs587777197, rs587777198, rs886041035, rs199474695, rs199474696, rs727502823, rs727503785, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs753962912, rs143441644, rs786205598, rs797045936, rs780247476, rs797045937, rs797044608, rs752623413, rs876657721, rs876657720, rs878854975, rs1131690773, rs752059006, rs202199411, rs886041949, rs757872635, rs1057517123, rs747868017, rs1057517294, rs1057516347, rs1057517232, rs565203731, rs753205260, rs1057516398, rs1057516856, rs756597098, rs1057516578, rs1057516773, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517383, rs1057516464, rs1057517349, rs1057516875, rs1057517060, rs765992922, rs1057516853, rs1057517020, rs753012964, rs1057517212, rs1057517014, rs758572409, rs1057516959, rs1057516438, rs1057517451, rs747676277, rs145766983, rs1057516689, rs1057517222, rs1057517301, rs1057516932, rs1057516635, rs1057516295, rs1057517366, rs1057517099, rs759166250, rs1057517138, rs761089024, rs1057517172, rs1057517297, rs1057517311, rs1057517305, rs1057516580, rs1057516285, rs780197970, rs1057516294, rs1057516930, rs1057516779, rs1057516222, rs1057517039, rs1057516551, rs1057516767, rs766457071, rs1057517034, rs1057516624, rs1057516829, rs1057517437, rs1057517285, rs1057516554, rs1057516224, rs1057516543, rs1057516406, rs1057516365, rs1057516625, rs1057516987, rs1057517242, rs1057516820, rs1057516837, rs771943685, rs764254189, rs747779231, rs1060499656, rs371019314, rs1060503431, rs774906736, rs1064796693, rs1555251539, rs754439135, rs767871841, rs867249938, rs1440541889, rs776825296, rs1156566314, rs1160357920, rs773182375, rs1372213267, rs374128662, rs1360298758, rs1555250160, rs1555252345, rs923921184, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555249662, rs1555249977, rs1555250016, rs1555250183, rs1555250191, rs1555250642, rs1555250949, rs1555251301, rs1555251553, rs201690040, rs1214399996, rs1555251905, rs1408290451, rs1555251935, rs1555252349, rs1555252359, rs1555252388, rs1555252448, rs1555252465, rs1555252518, rs1555252545, rs959856535, rs1555252611, rs1555252634, rs1167474602, rs1175545518, rs1417057515, rs1555249338, rs1555249460, rs1555249599, rs1555249633, rs1555249648, rs1555249745, rs1555249789, rs1555249797, rs1555249878, rs1400601705, rs1555249966, rs1555250383, rs1555250987, rs1555251007, rs1555251428, rs1555251514, rs1555251840, rs1555251853, rs1555251990, rs1555252086, rs1555252458, rs1555252531, rs1555252786, rs1555252844, rs1555252876, rs1555252928, rs745961541, rs1555252929, rs745907077, rs753277514, rs1555254489, rs1555249326, rs1555249371, rs1555249695, rs1555249766, rs1555249826, rs1555249881, rs1555249894, rs1555249904, rs1555250022, rs1555250082, rs1555250508, rs1555250557, rs1555250684, rs1555250872, rs1279988199, rs1555251241, rs1555251254, rs1028098148, rs140034972, rs1555251421, rs1555251699, rs766711286, rs1555251944, rs1555251960, rs1555252113, rs1555252142, rs1485885260, rs1555252184, rs1459899547, rs1555252926, rs1555252944, rs1555254734, rs1555249607, rs1555250255, rs1555250359, rs1555250395, rs1555250653, rs1555250991, rs1555251015, rs1240368715, rs1555251151, rs1555251615, rs1555251818, rs1555251963, rs1485209013, rs1555252055, rs1188844823, rs1555252148, rs1555252587, rs1555252623, rs144267558, rs142037771, rs1555252953, rs1555254439, rs1555251822, rs1555255676, rs1567721108, rs1006060877, rs746220436, rs1566069517, rs1310569366, rs751568153, rs1181477970, rs1593129673, rs1593133395, rs994374354, rs1593121924, rs770490672, rs1593133306, rs1593121484, rs780184251, rs1581504953, rs1131040, rs1581505917, rs1593145590, rs1326359185, rs543422544, rs1593123432, rs772704931, rs753958013, rs927804920, rs1883405453, rs1868872666, rs769212398, rs757179309, rs772475828

Unknown
Disease term	Disease name	Evidence	References	Source
Spastic Ataxia	spastic ataxia 3			GenCC
Mitochondrial Diseases	mitochondrial disease			GenCC
Ischemic Stroke	Ischemic Stroke			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	39380996
Carcinoma Non Small Cell Lung	Associate	36774778
Developmental Disabilities	Associate	25754315
Hearing Loss Sensorineural	Associate	25754315
Mitochondrial Diseases	Associate	25754315, 39874649
Muscle Hypotonia	Associate	25754315
Parkinson Disease	Associate	33276480
Pectus Carinatum	Associate	25754315
Pulmonary Alveolar Proteinosis	Associate	34503986