DARS2 (aspartyl-tRNA synthetase 2, mitochondrial)

Gene

• Entrez ID: 55157
• Gene name: Aspartyl-tRNA synthetase 2, mitochondrial
• Gene symbol: DARS2
• Synonyms (NCBI Gene): ASPRS, LBSL, MT-ASPRS, mtAspRS
• Disease Acronyms (UniProt): LBSL
• Chromosome: 1
• Chromosome location: 1q25.1
• Summary: The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs114714497	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121918205	C>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918206	C>T	Pathogenic	Stop gained, coding sequence variant
rs121918207	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121918208	G>T	Pathogenic	Missense variant, coding sequence variant
rs121918209	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918210	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918211	G>A,C,T	Pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs121918212	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918213	T>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs142433332	T>A,C,G	Pathogenic	Splice donor variant
rs182811621	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs200670286	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs754752982	C>A,G	Likely-pathogenic	Intron variant
rs759123043	T>C,G	Pathogenic	Splice donor variant
rs773706813	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs869312930	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs972404343	C>A,G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1057524364	T>G	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1064793097	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064794825	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307776	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1085307970	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1209550754	G>A	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs1553201258	TT>C	Pathogenic	Intron variant
rs1553202681	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553204327	GG>C	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1557852998	C>T	Pathogenic	Stop gained, coding sequence variant
rs1557853625	T>A	Pathogenic	Intron variant
rs1571995707	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028622	hsa-miR-30a-5p	Proteomics	18668040
MIRT050370	hsa-miR-24-3p	CLASH	23622248
MIRT046656	hsa-miR-222-3p	CLASH	23622248
MIRT045053	hsa-miR-186-5p	CLASH	23622248
MIRT637343	hsa-miR-6732-3p	HITS-CLIP	19536157
MIRT637344	hsa-miR-504-5p	HITS-CLIP	19536157
MIRT637342	hsa-miR-4714-5p	HITS-CLIP	19536157
MIRT637341	hsa-miR-514a-5p	HITS-CLIP	19536157
MIRT637340	hsa-miR-3664-5p	HITS-CLIP	19536157
MIRT637339	hsa-miR-5588-3p	HITS-CLIP	19536157
MIRT637338	hsa-miR-2114-5p	HITS-CLIP	19536157
MIRT637337	hsa-miR-5690	HITS-CLIP	19536157
MIRT637336	hsa-miR-146a-3p	HITS-CLIP	19536157
MIRT637335	hsa-miR-4539	HITS-CLIP	19536157
MIRT637334	hsa-miR-20b-3p	HITS-CLIP	19536157
MIRT663205	hsa-miR-6735-3p	HITS-CLIP	19536157
MIRT663204	hsa-miR-2861	HITS-CLIP	19536157
MIRT637333	hsa-miR-7977	HITS-CLIP	19536157
MIRT688588	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT688587	hsa-miR-4695-5p	HITS-CLIP	23313552
MIRT688586	hsa-miR-4779	HITS-CLIP	23313552
MIRT688585	hsa-miR-3929	HITS-CLIP	23313552
MIRT688584	hsa-miR-4419b	HITS-CLIP	23313552
MIRT688583	hsa-miR-4478	HITS-CLIP	23313552
MIRT688582	hsa-miR-3614-5p	HITS-CLIP	23313552
MIRT688581	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT688580	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT688579	hsa-miR-4459	HITS-CLIP	23313552
MIRT688578	hsa-miR-6840-3p	HITS-CLIP	23313552
MIRT688577	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT688576	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT688575	hsa-miR-6134	HITS-CLIP	23313552
MIRT688574	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT688573	hsa-miR-4266	HITS-CLIP	23313552
MIRT688572	hsa-miR-1273e	HITS-CLIP	23313552
MIRT663211	hsa-miR-1245a	HITS-CLIP	23824327
MIRT663210	hsa-miR-8079	HITS-CLIP	23824327
MIRT663209	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT663208	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT663207	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT663206	hsa-miR-640	HITS-CLIP	23824327
MIRT637343	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT637344	hsa-miR-504-5p	HITS-CLIP	23824327
MIRT637342	hsa-miR-4714-5p	HITS-CLIP	23824327
MIRT637341	hsa-miR-514a-5p	HITS-CLIP	23824327
MIRT637340	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT637339	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT637338	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT637337	hsa-miR-5690	HITS-CLIP	23824327
MIRT637336	hsa-miR-146a-3p	HITS-CLIP	23824327
MIRT637335	hsa-miR-4539	HITS-CLIP	23824327
MIRT637334	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT663205	hsa-miR-6735-3p	HITS-CLIP	23824327
MIRT663204	hsa-miR-2861	HITS-CLIP	23824327
MIRT663203	hsa-miR-4417	HITS-CLIP	23824327
MIRT637333	hsa-miR-7977	HITS-CLIP	23824327
MIRT663202	hsa-miR-4265	HITS-CLIP	23824327
MIRT663201	hsa-miR-4296	HITS-CLIP	23824327
MIRT663200	hsa-miR-4322	HITS-CLIP	23824327
MIRT637343	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT637344	hsa-miR-504-5p	HITS-CLIP	23824327
MIRT637342	hsa-miR-4714-5p	HITS-CLIP	23824327
MIRT637341	hsa-miR-514a-5p	HITS-CLIP	23824327
MIRT637340	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT637339	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT637338	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT637337	hsa-miR-5690	HITS-CLIP	23824327
MIRT637336	hsa-miR-146a-3p	HITS-CLIP	23824327
MIRT637335	hsa-miR-4539	HITS-CLIP	23824327
MIRT637334	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT637333	hsa-miR-7977	HITS-CLIP	23824327
MIRT608618	hsa-miR-552-3p	HITS-CLIP	24906430
MIRT608617	hsa-miR-8062	HITS-CLIP	24906430
MIRT608616	hsa-miR-455-5p	HITS-CLIP	24906430
MIRT608615	hsa-miR-660-3p	HITS-CLIP	24906430
MIRT608614	hsa-miR-4324	HITS-CLIP	24906430
MIRT608613	hsa-miR-544b	HITS-CLIP	24906430
MIRT608612	hsa-miR-4722-3p	HITS-CLIP	24906430
MIRT608611	hsa-miR-6727-3p	HITS-CLIP	24906430
MIRT608610	hsa-miR-6747-3p	HITS-CLIP	24906430
MIRT608609	hsa-miR-3653-5p	HITS-CLIP	24906430
MIRT608608	hsa-miR-1976	HITS-CLIP	24906430
MIRT608607	hsa-miR-6791-3p	HITS-CLIP	24906430
MIRT608606	hsa-miR-6829-3p	HITS-CLIP	24906430
MIRT608605	hsa-miR-3199	HITS-CLIP	24906430
MIRT608604	hsa-miR-8052	HITS-CLIP	24906430
MIRT608603	hsa-miR-365a-5p	HITS-CLIP	24906430
MIRT608602	hsa-miR-365b-5p	HITS-CLIP	24906430
MIRT608601	hsa-miR-1200	HITS-CLIP	24906430
MIRT608600	hsa-miR-4279	HITS-CLIP	24906430
MIRT608599	hsa-miR-6869-5p	HITS-CLIP	24906430
MIRT516625	hsa-miR-4438	PAR-CLIP	23446348
MIRT516624	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT516623	hsa-miR-6872-3p	PAR-CLIP	23446348
MIRT516622	hsa-miR-4794	PAR-CLIP	23446348
MIRT516621	hsa-miR-664a-5p	PAR-CLIP	23446348
MIRT516620	hsa-miR-1254	PAR-CLIP	23446348
MIRT516619	hsa-miR-3116	PAR-CLIP	23446348
MIRT516617	hsa-miR-661	PAR-CLIP	23446348
MIRT516618	hsa-miR-6853-5p	PAR-CLIP	23446348
MIRT516616	hsa-miR-4640-5p	PAR-CLIP	23446348
MIRT516615	hsa-miR-4726-5p	PAR-CLIP	23446348
MIRT516614	hsa-miR-6508-3p	PAR-CLIP	23446348
MIRT516613	hsa-miR-5095	PAR-CLIP	23446348
MIRT516612	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT050370	hsa-miR-24-3p	HITS-CLIP	28735896
MIRT637343	hsa-miR-6732-3p	HITS-CLIP	19536157
MIRT637344	hsa-miR-504-5p	HITS-CLIP	19536157
MIRT637342	hsa-miR-4714-5p	HITS-CLIP	19536157
MIRT637341	hsa-miR-514a-5p	HITS-CLIP	19536157
MIRT637340	hsa-miR-3664-5p	HITS-CLIP	19536157
MIRT637339	hsa-miR-5588-3p	HITS-CLIP	19536157
MIRT637338	hsa-miR-2114-5p	HITS-CLIP	19536157
MIRT637337	hsa-miR-5690	HITS-CLIP	19536157
MIRT637336	hsa-miR-146a-3p	HITS-CLIP	19536157
MIRT637335	hsa-miR-4539	HITS-CLIP	19536157
MIRT637334	hsa-miR-20b-3p	HITS-CLIP	19536157
MIRT663205	hsa-miR-6735-3p	HITS-CLIP	19536157
MIRT663204	hsa-miR-2861	HITS-CLIP	19536157
MIRT637333	hsa-miR-7977	HITS-CLIP	19536157
MIRT688588	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT688587	hsa-miR-4695-5p	HITS-CLIP	23313552
MIRT688586	hsa-miR-4779	HITS-CLIP	23313552
MIRT688585	hsa-miR-3929	HITS-CLIP	23313552
MIRT688584	hsa-miR-4419b	HITS-CLIP	23313552
MIRT688583	hsa-miR-4478	HITS-CLIP	23313552
MIRT688582	hsa-miR-3614-5p	HITS-CLIP	23313552
MIRT688581	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT688580	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT688579	hsa-miR-4459	HITS-CLIP	23313552
MIRT688578	hsa-miR-6840-3p	HITS-CLIP	23313552
MIRT688577	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT688576	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT688575	hsa-miR-6134	HITS-CLIP	23313552
MIRT688574	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT688573	hsa-miR-4266	HITS-CLIP	23313552
MIRT688572	hsa-miR-1273e	HITS-CLIP	23313552
MIRT663211	hsa-miR-1245a	HITS-CLIP	23824327
MIRT663210	hsa-miR-8079	HITS-CLIP	23824327
MIRT663209	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT663208	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT663207	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT663206	hsa-miR-640	HITS-CLIP	23824327
MIRT637343	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT637344	hsa-miR-504-5p	HITS-CLIP	23824327
MIRT637342	hsa-miR-4714-5p	HITS-CLIP	23824327
MIRT637341	hsa-miR-514a-5p	HITS-CLIP	23824327
MIRT637340	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT637339	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT637338	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT637337	hsa-miR-5690	HITS-CLIP	23824327
MIRT637336	hsa-miR-146a-3p	HITS-CLIP	23824327
MIRT637335	hsa-miR-4539	HITS-CLIP	23824327
MIRT637334	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT663205	hsa-miR-6735-3p	HITS-CLIP	23824327
MIRT663204	hsa-miR-2861	HITS-CLIP	23824327
MIRT663203	hsa-miR-4417	HITS-CLIP	23824327
MIRT637333	hsa-miR-7977	HITS-CLIP	23824327
MIRT663202	hsa-miR-4265	HITS-CLIP	23824327
MIRT663201	hsa-miR-4296	HITS-CLIP	23824327
MIRT663200	hsa-miR-4322	HITS-CLIP	23824327
MIRT637343	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT637344	hsa-miR-504-5p	HITS-CLIP	23824327
MIRT637342	hsa-miR-4714-5p	HITS-CLIP	23824327
MIRT637341	hsa-miR-514a-5p	HITS-CLIP	23824327
MIRT637340	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT637339	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT637338	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT637337	hsa-miR-5690	HITS-CLIP	23824327
MIRT637336	hsa-miR-146a-3p	HITS-CLIP	23824327
MIRT637335	hsa-miR-4539	HITS-CLIP	23824327
MIRT637334	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT637333	hsa-miR-7977	HITS-CLIP	23824327
MIRT516625	hsa-miR-4438	PAR-CLIP	23446348
MIRT516624	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT516623	hsa-miR-6872-3p	PAR-CLIP	23446348
MIRT516622	hsa-miR-4794	PAR-CLIP	23446348
MIRT516621	hsa-miR-664a-5p	PAR-CLIP	23446348
MIRT516620	hsa-miR-1254	PAR-CLIP	23446348
MIRT516619	hsa-miR-3116	PAR-CLIP	23446348
MIRT516617	hsa-miR-661	PAR-CLIP	23446348
MIRT516618	hsa-miR-6853-5p	PAR-CLIP	23446348
MIRT516616	hsa-miR-4640-5p	PAR-CLIP	23446348
MIRT516615	hsa-miR-4726-5p	PAR-CLIP	23446348
MIRT516614	hsa-miR-6508-3p	PAR-CLIP	23446348
MIRT516613	hsa-miR-5095	PAR-CLIP	23446348
MIRT516612	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT923234	hsa-miR-134	CLIP-seq
MIRT923235	hsa-miR-141	CLIP-seq
MIRT923236	hsa-miR-142-5p	CLIP-seq
MIRT923237	hsa-miR-200a	CLIP-seq
MIRT923238	hsa-miR-203	CLIP-seq
MIRT923239	hsa-miR-2110	CLIP-seq
MIRT923240	hsa-miR-3118	CLIP-seq
MIRT923241	hsa-miR-3155	CLIP-seq
MIRT923242	hsa-miR-3155b	CLIP-seq
MIRT923243	hsa-miR-3164	CLIP-seq
MIRT923244	hsa-miR-3185	CLIP-seq
MIRT923245	hsa-miR-320a	CLIP-seq
MIRT923246	hsa-miR-320b	CLIP-seq
MIRT923247	hsa-miR-320c	CLIP-seq
MIRT923248	hsa-miR-320d	CLIP-seq
MIRT923249	hsa-miR-340	CLIP-seq
MIRT923250	hsa-miR-4271	CLIP-seq
MIRT923251	hsa-miR-4276	CLIP-seq
MIRT923252	hsa-miR-4282	CLIP-seq
MIRT923253	hsa-miR-4307	CLIP-seq
MIRT923254	hsa-miR-4429	CLIP-seq
MIRT923255	hsa-miR-4477a	CLIP-seq
MIRT923256	hsa-miR-4522	CLIP-seq
MIRT923257	hsa-miR-4528	CLIP-seq
MIRT923258	hsa-miR-4725-3p	CLIP-seq
MIRT923259	hsa-miR-4775	CLIP-seq
MIRT923260	hsa-miR-484	CLIP-seq
MIRT923261	hsa-miR-494	CLIP-seq
MIRT923262	hsa-miR-544	CLIP-seq
MIRT923263	hsa-miR-563	CLIP-seq
MIRT923264	hsa-miR-583	CLIP-seq
MIRT923265	hsa-miR-587	CLIP-seq
MIRT923266	hsa-miR-616	CLIP-seq
MIRT923267	hsa-miR-758	CLIP-seq
MIRT2209114	hsa-let-7a	CLIP-seq
MIRT2209115	hsa-let-7b	CLIP-seq
MIRT2209116	hsa-let-7c	CLIP-seq
MIRT2209117	hsa-let-7d	CLIP-seq
MIRT2209118	hsa-let-7e	CLIP-seq
MIRT2209119	hsa-let-7f	CLIP-seq
MIRT2209120	hsa-let-7g	CLIP-seq
MIRT2209121	hsa-let-7i	CLIP-seq
MIRT2209122	hsa-miR-1294	CLIP-seq
MIRT2209123	hsa-miR-202	CLIP-seq
MIRT2209124	hsa-miR-380	CLIP-seq
MIRT2209125	hsa-miR-3924	CLIP-seq
MIRT2209126	hsa-miR-3940-3p	CLIP-seq
MIRT2209127	hsa-miR-3941	CLIP-seq
MIRT2209128	hsa-miR-4458	CLIP-seq
MIRT2209129	hsa-miR-4495	CLIP-seq
MIRT2209130	hsa-miR-4500	CLIP-seq
MIRT2209131	hsa-miR-4643	CLIP-seq
MIRT2209132	hsa-miR-466	CLIP-seq
MIRT2209133	hsa-miR-4672	CLIP-seq
MIRT2209134	hsa-miR-4676-5p	CLIP-seq
MIRT2209135	hsa-miR-4685-5p	CLIP-seq
MIRT2209136	hsa-miR-4688	CLIP-seq
MIRT2209137	hsa-miR-4710	CLIP-seq
MIRT2209138	hsa-miR-4783-3p	CLIP-seq
MIRT2209139	hsa-miR-4789-3p	CLIP-seq
MIRT2209140	hsa-miR-4795-3p	CLIP-seq
MIRT2209141	hsa-miR-550b	CLIP-seq
MIRT2209142	hsa-miR-575	CLIP-seq
MIRT2209143	hsa-miR-656	CLIP-seq
MIRT2209144	hsa-miR-98	CLIP-seq
MIRT2448036	hsa-miR-1185	CLIP-seq
MIRT2448037	hsa-miR-1272	CLIP-seq
MIRT2448038	hsa-miR-3605-5p	CLIP-seq
MIRT2448039	hsa-miR-3679-5p	CLIP-seq
MIRT2448040	hsa-miR-4753-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	TAS	15779907
GO:0004815	Function	Aspartate-tRNA ligase activity	IDA	23275545
GO:0005515	Function	Protein binding	IPI	15779907, 28514442, 29568061, 30021884, 32296183
GO:0005524	Function	ATP binding	TAS	15779907
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	TAS	15779907
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0042803	Function	Protein homodimerization activity	IPI	15779907, 23275545
GO:0043039	Process	TRNA aminoacylation	IDA	15779907, 17384640
GO:0050560	Function	Aspartate-tRNA(Asn) ligase activity	IDA	15779907, 17384640
GO:0070145	Process	Mitochondrial asparaginyl-tRNA aminoacylation	IC	15779907
GO:0070145	Process	Mitochondrial asparaginyl-tRNA aminoacylation	IDA	23275545

Other IDs

• MIM: 610956
• HGNC: 25538
• e!Ensembl: ENSG00000117593

Protein

• UniProt ID: Q6PI48
• Protein name: Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12) (Aspartyl-tRNA synthetase) (AspRS)
• Protein function: Catalyzes the attachment of aspartate to tRNA(Asp) in a two-step reaction: aspartate is first activated by ATP to form Asp-AMP and then transferred to the acceptor end of tRNA(Asp).
• PDB: 4AH6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01336	tRNA_anti-codon	66 → 149	OB-fold nucleic acid binding domain	Domain
  PF00152	tRNA-synt_2	166 → 608	tRNA synthetases class II (D, K and N)	Domain
  PF02938	GAD	356 → 452	GAD domain	Domain

• Sequence:

  MYFPSWLSQLYRGLSRPIRRTTQPIWGSLYRSLLQSSQRRIPEFSSFVVRTNTCGELRSS
  HLGQEVTLCGWIQYRRQNTFLVLRDFDGLVQVIIPQDESAASVKKILCEAPVESVVQVSG
  TVISRPAGQENPKMPTGEIEIKVKTAELLNACKKLPFEIKNFVKKTEALRLQYRYLDLRS
  FQMQYNLRLRSQMVMKMREYLCNLHGFVDIETPTLFKRTPGGAKEFLVPSREPGKFYSLP
  QSPQQFKQLLMVGGLDRYFQVARCYRDEGSRPDRQPEFTQIDIEMSFVDQTGIQSLIEGL
  LQYSWPNDKDPVVVPFPTMTFAEVLATYGTDKPDTRFGMKIIDISDVFRNTEIGFLQDAL
  SKPHGTVKAICIPEGAKYLKRKDIESIRNFAADHFNQEILPVFLNANRNWNSPVANFIME
  SQRLELIRLMETQEEDVVLLTAGEHNKACSLLGKLRLECADLLETRGVVLRDPTLFSFLW
  VVDFPLFLPKEENPRELESAHHPFTAPHPSDIHLLYTEPKKARSQHYDLVLNGNEIGGGS
  IRIHNAELQRYILATLLKEDVKMLSHLLQALDYGAPPHGGIALGLDRLICLVTGSPSIRD
  VIAFPKSFRGHDLMSNTPDSVPPEELKPYHIRVSKPTDSKAERAH

• Sequence length: 645

Pathways

KEGG:

Aminoacyl-tRNA biosynthesis

Reactome:

Mitochondrial tRNA aminoacylation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, 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, 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, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, 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, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, 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, rs371977235, 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, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	17463246
Hypertension	Hypertensive disease	rs13306026
Leukoencephalopathy	Leukoencephalopathy	rs34757931
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	rs1553201258, rs121918206, rs121918207, rs121918208, rs142433332, rs121918209, rs121918210, rs1557853625, rs1057524364, rs1085307776, rs773706813, rs1553202681, rs1553200766, rs1557852998, rs1571995707, rs771905691	22843165, 17384640, 24407472, 24005482, 24357685, 19592391, 23652419, 28334938, 27604308, 23065766, 25655951
Mental retardation	Intellectual Disability	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
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Polyneuropathy	Polyneuropathy	rs1597597437
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
Peripheral axonal neuropathy	Peripheral axonal neuropathy			ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Mitochondrial Diseases	mitochondrial disease			GenCC
Alzheimer disease	Alzheimer disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	34996932, 36085578, 37626419
Ataxia	Associate	24030952
Brain Stem Neoplasms	Associate	35914483
Carcinogenesis	Associate	29052520
Carcinoma Hepatocellular	Associate	29052520
Cerebellar Diseases	Associate	35914483
Charcot Marie Tooth Disease	Associate	38549004
Developmental Disabilities	Associate	30006346
Leukodystrophy Metachromatic	Associate	35803560
Leukoencephalopathies	Associate	23643384, 30006346, 30352563, 35803560, 40185339
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	Associate	23643384, 30352563, 30635318, 31671122, 35914483, 37563224, 40185339
Mitochondrial Diseases	Associate	30283131, 40185339
Neoplasms	Associate	36085578, 37626419
Neurodegenerative Diseases	Associate	30006346
Posterior column ataxia	Associate	35914483
Spinal Cord Diseases	Associate	23643384, 30352563
Spinal Diseases	Associate	30635318
Spinocerebellar Degenerations	Associate	24030952
Urinary Bladder Neoplasms	Associate	33685397