MRPL44 (mitochondrial ribosomal protein L44)

Gene

• Entrez ID: 65080
• Gene name: Mitochondrial ribosomal protein L44
• Gene symbol: MRPL44
• Synonyms (NCBI Gene): COXPD16, L44MT, MRP-L44, mL44
• Disease Acronyms (UniProt): COXPD16
• Chromosome: 2
• Chromosome location: 2q36.1
• Summary: Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% prot

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs143697995	T>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs144037629	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1574796091	T>A	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022007	hsa-miR-128-3p	Sequencing	20371350
MIRT027245	hsa-miR-101-3p	Sequencing	20371350
MIRT656177	hsa-miR-3973	HITS-CLIP	23824327
MIRT656176	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT656175	hsa-miR-520h	HITS-CLIP	23824327
MIRT656174	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT656173	hsa-miR-452-3p	HITS-CLIP	23824327
MIRT656172	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT656171	hsa-miR-607	HITS-CLIP	23824327
MIRT656177	hsa-miR-3973	HITS-CLIP	23824327
MIRT656176	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT656175	hsa-miR-520h	HITS-CLIP	23824327
MIRT656174	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT656173	hsa-miR-452-3p	HITS-CLIP	23824327
MIRT656172	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT656171	hsa-miR-607	HITS-CLIP	23824327
MIRT1159391	hsa-miR-1231	CLIP-seq
MIRT1159392	hsa-miR-149	CLIP-seq
MIRT1159393	hsa-miR-23a	CLIP-seq
MIRT1159394	hsa-miR-23b	CLIP-seq
MIRT1159395	hsa-miR-23c	CLIP-seq
MIRT1159396	hsa-miR-3064-5p	CLIP-seq
MIRT1159397	hsa-miR-3120-3p	CLIP-seq
MIRT1159398	hsa-miR-3122	CLIP-seq
MIRT1159399	hsa-miR-3165	CLIP-seq
MIRT1159400	hsa-miR-323-5p	CLIP-seq
MIRT1159401	hsa-miR-3611	CLIP-seq
MIRT1159402	hsa-miR-3613-3p	CLIP-seq
MIRT1159403	hsa-miR-3618	CLIP-seq
MIRT1159404	hsa-miR-3622a-3p	CLIP-seq
MIRT1159405	hsa-miR-3622b-3p	CLIP-seq
MIRT1159406	hsa-miR-3647-3p	CLIP-seq
MIRT1159407	hsa-miR-3650	CLIP-seq
MIRT1159408	hsa-miR-3656	CLIP-seq
MIRT1159409	hsa-miR-3689a-3p	CLIP-seq
MIRT1159410	hsa-miR-3689c	CLIP-seq
MIRT1159411	hsa-miR-3913-5p	CLIP-seq
MIRT1159412	hsa-miR-412	CLIP-seq
MIRT1159413	hsa-miR-4418	CLIP-seq
MIRT1159414	hsa-miR-4433	CLIP-seq
MIRT1159415	hsa-miR-4459	CLIP-seq
MIRT1159416	hsa-miR-4659a-3p	CLIP-seq
MIRT1159417	hsa-miR-4659b-3p	CLIP-seq
MIRT1159418	hsa-miR-4662a-3p	CLIP-seq
MIRT1159419	hsa-miR-4662a-5p	CLIP-seq
MIRT1159420	hsa-miR-4676-5p	CLIP-seq
MIRT1159421	hsa-miR-4768-3p	CLIP-seq
MIRT1159422	hsa-miR-4777-3p	CLIP-seq
MIRT1159423	hsa-miR-4794	CLIP-seq
MIRT1159424	hsa-miR-494	CLIP-seq
MIRT1159425	hsa-miR-509-3-5p	CLIP-seq
MIRT1159426	hsa-miR-509-5p	CLIP-seq
MIRT1159427	hsa-miR-513b	CLIP-seq
MIRT1159428	hsa-miR-544b	CLIP-seq
MIRT1159429	hsa-miR-545	CLIP-seq
MIRT1159430	hsa-miR-548p	CLIP-seq
MIRT1159431	hsa-miR-550a	CLIP-seq
MIRT1159432	hsa-miR-575	CLIP-seq
MIRT1159433	hsa-miR-654-3p	CLIP-seq
MIRT1159434	hsa-miR-875-5p	CLIP-seq
MIRT1159435	hsa-miR-876-3p	CLIP-seq
MIRT1159436	hsa-miR-934	CLIP-seq
MIRT2045739	hsa-miR-1228	CLIP-seq
MIRT2045740	hsa-miR-1273	CLIP-seq
MIRT2045741	hsa-miR-129-5p	CLIP-seq
MIRT1159398	hsa-miR-3122	CLIP-seq
MIRT1159399	hsa-miR-3165	CLIP-seq
MIRT1159402	hsa-miR-3613-3p	CLIP-seq
MIRT1159404	hsa-miR-3622a-3p	CLIP-seq
MIRT1159405	hsa-miR-3622b-3p	CLIP-seq
MIRT1159408	hsa-miR-3656	CLIP-seq
MIRT1159409	hsa-miR-3689a-3p	CLIP-seq
MIRT1159410	hsa-miR-3689c	CLIP-seq
MIRT1159411	hsa-miR-3913-5p	CLIP-seq
MIRT2045742	hsa-miR-4282	CLIP-seq
MIRT1159413	hsa-miR-4418	CLIP-seq
MIRT2045743	hsa-miR-4432	CLIP-seq
MIRT1159414	hsa-miR-4433	CLIP-seq
MIRT1159415	hsa-miR-4459	CLIP-seq
MIRT2045744	hsa-miR-4486	CLIP-seq
MIRT2045745	hsa-miR-4649-5p	CLIP-seq
MIRT1159419	hsa-miR-4662a-5p	CLIP-seq
MIRT1159421	hsa-miR-4768-3p	CLIP-seq
MIRT2045746	hsa-miR-4797-5p	CLIP-seq
MIRT2045747	hsa-miR-499-5p	CLIP-seq
MIRT1159425	hsa-miR-509-3-5p	CLIP-seq
MIRT1159426	hsa-miR-509-5p	CLIP-seq
MIRT1159428	hsa-miR-544b	CLIP-seq
MIRT2045748	hsa-miR-661	CLIP-seq
MIRT2045739	hsa-miR-1228	CLIP-seq
MIRT2045740	hsa-miR-1273	CLIP-seq
MIRT2045741	hsa-miR-129-5p	CLIP-seq
MIRT1159398	hsa-miR-3122	CLIP-seq
MIRT2274699	hsa-miR-3155	CLIP-seq
MIRT2274700	hsa-miR-3155b	CLIP-seq
MIRT1159399	hsa-miR-3165	CLIP-seq
MIRT2274701	hsa-miR-324-5p	CLIP-seq
MIRT2274702	hsa-miR-342-3p	CLIP-seq
MIRT1159402	hsa-miR-3613-3p	CLIP-seq
MIRT1159404	hsa-miR-3622a-3p	CLIP-seq
MIRT1159405	hsa-miR-3622b-3p	CLIP-seq
MIRT1159408	hsa-miR-3656	CLIP-seq
MIRT2274703	hsa-miR-3663-5p	CLIP-seq
MIRT1159409	hsa-miR-3689a-3p	CLIP-seq
MIRT1159410	hsa-miR-3689c	CLIP-seq
MIRT1159411	hsa-miR-3913-5p	CLIP-seq
MIRT2274704	hsa-miR-4284	CLIP-seq
MIRT1159413	hsa-miR-4418	CLIP-seq
MIRT1159414	hsa-miR-4433	CLIP-seq
MIRT1159415	hsa-miR-4459	CLIP-seq
MIRT2045744	hsa-miR-4486	CLIP-seq
MIRT2274705	hsa-miR-450b-5p	CLIP-seq
MIRT2045745	hsa-miR-4649-5p	CLIP-seq
MIRT1159419	hsa-miR-4662a-5p	CLIP-seq
MIRT2274706	hsa-miR-4729	CLIP-seq
MIRT1159421	hsa-miR-4768-3p	CLIP-seq
MIRT2045746	hsa-miR-4797-5p	CLIP-seq
MIRT2274707	hsa-miR-484	CLIP-seq
MIRT2274708	hsa-miR-507	CLIP-seq
MIRT1159425	hsa-miR-509-3-5p	CLIP-seq
MIRT1159426	hsa-miR-509-5p	CLIP-seq
MIRT2274709	hsa-miR-513c	CLIP-seq
MIRT2274710	hsa-miR-514b-5p	CLIP-seq
MIRT2274711	hsa-miR-518a-5p	CLIP-seq
MIRT2274712	hsa-miR-527	CLIP-seq
MIRT1159428	hsa-miR-544b	CLIP-seq
MIRT2274713	hsa-miR-557	CLIP-seq
MIRT2045748	hsa-miR-661	CLIP-seq
MIRT2045743	hsa-miR-4432	CLIP-seq
MIRT2045746	hsa-miR-4797-5p	CLIP-seq
MIRT2045747	hsa-miR-499-5p	CLIP-seq
MIRT2274709	hsa-miR-513c	CLIP-seq
MIRT2274710	hsa-miR-514b-5p	CLIP-seq
MIRT2045739	hsa-miR-1228	CLIP-seq
MIRT1159398	hsa-miR-3122	CLIP-seq
MIRT1159399	hsa-miR-3165	CLIP-seq
MIRT1159404	hsa-miR-3622a-3p	CLIP-seq
MIRT1159405	hsa-miR-3622b-3p	CLIP-seq
MIRT1159408	hsa-miR-3656	CLIP-seq
MIRT1159409	hsa-miR-3689a-3p	CLIP-seq
MIRT1159410	hsa-miR-3689c	CLIP-seq
MIRT1159411	hsa-miR-3913-5p	CLIP-seq
MIRT1159428	hsa-miR-544b	CLIP-seq
MIRT2045739	hsa-miR-1228	CLIP-seq
MIRT2573650	hsa-miR-1321	CLIP-seq
MIRT2573651	hsa-miR-134	CLIP-seq
MIRT2573652	hsa-miR-141	CLIP-seq
MIRT2573653	hsa-miR-200a	CLIP-seq
MIRT2573654	hsa-miR-3118	CLIP-seq
MIRT1159398	hsa-miR-3122	CLIP-seq
MIRT2274699	hsa-miR-3155	CLIP-seq
MIRT2274700	hsa-miR-3155b	CLIP-seq
MIRT2573655	hsa-miR-3162-5p	CLIP-seq
MIRT2573656	hsa-miR-3164	CLIP-seq
MIRT1159399	hsa-miR-3165	CLIP-seq
MIRT1159400	hsa-miR-323-5p	CLIP-seq
MIRT2573657	hsa-miR-335	CLIP-seq
MIRT1159401	hsa-miR-3611	CLIP-seq
MIRT1159403	hsa-miR-3618	CLIP-seq
MIRT1159404	hsa-miR-3622a-3p	CLIP-seq
MIRT1159405	hsa-miR-3622b-3p	CLIP-seq
MIRT1159407	hsa-miR-3650	CLIP-seq
MIRT1159408	hsa-miR-3656	CLIP-seq
MIRT1159409	hsa-miR-3689a-3p	CLIP-seq
MIRT1159410	hsa-miR-3689c	CLIP-seq
MIRT1159411	hsa-miR-3913-5p	CLIP-seq
MIRT2573658	hsa-miR-3929	CLIP-seq
MIRT1159412	hsa-miR-412	CLIP-seq
MIRT1159413	hsa-miR-4418	CLIP-seq
MIRT2573659	hsa-miR-4419b	CLIP-seq
MIRT2045743	hsa-miR-4432	CLIP-seq
MIRT1159414	hsa-miR-4433	CLIP-seq
MIRT1159415	hsa-miR-4459	CLIP-seq
MIRT2573660	hsa-miR-4478	CLIP-seq
MIRT1159416	hsa-miR-4659a-3p	CLIP-seq
MIRT1159417	hsa-miR-4659b-3p	CLIP-seq
MIRT1159419	hsa-miR-4662a-5p	CLIP-seq
MIRT2573661	hsa-miR-4663	CLIP-seq
MIRT1159420	hsa-miR-4676-5p	CLIP-seq
MIRT2274706	hsa-miR-4729	CLIP-seq
MIRT2573662	hsa-miR-4739	CLIP-seq
MIRT2573663	hsa-miR-4756-5p	CLIP-seq
MIRT1159421	hsa-miR-4768-3p	CLIP-seq
MIRT2573664	hsa-miR-4775	CLIP-seq
MIRT2045746	hsa-miR-4797-5p	CLIP-seq
MIRT2274707	hsa-miR-484	CLIP-seq
MIRT2573665	hsa-miR-485-5p	CLIP-seq
MIRT2045747	hsa-miR-499-5p	CLIP-seq
MIRT1159425	hsa-miR-509-3-5p	CLIP-seq
MIRT1159426	hsa-miR-509-5p	CLIP-seq
MIRT1159427	hsa-miR-513b	CLIP-seq
MIRT2274709	hsa-miR-513c	CLIP-seq
MIRT2274710	hsa-miR-514b-5p	CLIP-seq
MIRT1159428	hsa-miR-544b	CLIP-seq
MIRT1159431	hsa-miR-550a	CLIP-seq
MIRT1159432	hsa-miR-575	CLIP-seq
MIRT2573666	hsa-miR-590-3p	CLIP-seq
MIRT1159435	hsa-miR-876-3p	CLIP-seq
MIRT1159436	hsa-miR-934	CLIP-seq
MIRT2045739	hsa-miR-1228	CLIP-seq
MIRT2573650	hsa-miR-1321	CLIP-seq
MIRT1159398	hsa-miR-3122	CLIP-seq
MIRT2274699	hsa-miR-3155	CLIP-seq
MIRT2274700	hsa-miR-3155b	CLIP-seq
MIRT2573655	hsa-miR-3162-5p	CLIP-seq
MIRT1159399	hsa-miR-3165	CLIP-seq
MIRT1159400	hsa-miR-323-5p	CLIP-seq
MIRT2573657	hsa-miR-335	CLIP-seq
MIRT1159403	hsa-miR-3618	CLIP-seq
MIRT1159404	hsa-miR-3622a-3p	CLIP-seq
MIRT1159405	hsa-miR-3622b-3p	CLIP-seq
MIRT1159407	hsa-miR-3650	CLIP-seq
MIRT1159408	hsa-miR-3656	CLIP-seq
MIRT1159409	hsa-miR-3689a-3p	CLIP-seq
MIRT1159410	hsa-miR-3689c	CLIP-seq
MIRT1159411	hsa-miR-3913-5p	CLIP-seq
MIRT2573658	hsa-miR-3929	CLIP-seq
MIRT1159412	hsa-miR-412	CLIP-seq
MIRT1159413	hsa-miR-4418	CLIP-seq
MIRT2573659	hsa-miR-4419b	CLIP-seq
MIRT2045743	hsa-miR-4432	CLIP-seq
MIRT1159414	hsa-miR-4433	CLIP-seq
MIRT1159415	hsa-miR-4459	CLIP-seq
MIRT2573660	hsa-miR-4478	CLIP-seq
MIRT1159416	hsa-miR-4659a-3p	CLIP-seq
MIRT1159417	hsa-miR-4659b-3p	CLIP-seq
MIRT1159419	hsa-miR-4662a-5p	CLIP-seq
MIRT2573661	hsa-miR-4663	CLIP-seq
MIRT1159420	hsa-miR-4676-5p	CLIP-seq
MIRT2274706	hsa-miR-4729	CLIP-seq
MIRT2573662	hsa-miR-4739	CLIP-seq
MIRT2573663	hsa-miR-4756-5p	CLIP-seq
MIRT1159421	hsa-miR-4768-3p	CLIP-seq
MIRT2045746	hsa-miR-4797-5p	CLIP-seq
MIRT2274707	hsa-miR-484	CLIP-seq
MIRT2573665	hsa-miR-485-5p	CLIP-seq
MIRT2045747	hsa-miR-499-5p	CLIP-seq
MIRT1159425	hsa-miR-509-3-5p	CLIP-seq
MIRT1159426	hsa-miR-509-5p	CLIP-seq
MIRT1159427	hsa-miR-513b	CLIP-seq
MIRT2274709	hsa-miR-513c	CLIP-seq
MIRT2274710	hsa-miR-514b-5p	CLIP-seq
MIRT1159428	hsa-miR-544b	CLIP-seq
MIRT1159431	hsa-miR-550a	CLIP-seq
MIRT1159432	hsa-miR-575	CLIP-seq
MIRT1159435	hsa-miR-876-3p	CLIP-seq
MIRT1159436	hsa-miR-934	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003725	Function	Double-stranded RNA binding	IBA	21873635
GO:0004525	Function	Ribonuclease III activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA	28892042
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005762	Component	Mitochondrial large ribosomal subunit	IDA	25278503, 28892042
GO:0005886	Component	Plasma membrane	IDA
GO:0006396	Process	RNA processing	IBA	21873635
GO:0016604	Component	Nuclear body	IDA
GO:0030422	Process	Production of siRNA involved in RNA interference	IBA	21873635
GO:0031053	Process	Primary miRNA processing	IBA	21873635
GO:0031054	Process	Pre-miRNA processing	IBA	21873635
GO:0070125	Process	Mitochondrial translational elongation	IMP	23315540
GO:0070125	Process	Mitochondrial translational elongation	TAS
GO:0070126	Process	Mitochondrial translational termination	TAS
GO:0090502	Process	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA

Other IDs

• MIM: 611849
• HGNC: 16650
• e!Ensembl: ENSG00000135900

Protein

• UniProt ID: Q9H9J2
• Protein name: Large ribosomal subunit protein mL44 (EC 3.1.26.-) (39S ribosomal protein L44, mitochondrial) (L44mt) (MRP-L44)
• Protein function: Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome.
• PDB: 3J7Y, 3J9M, 5OOL, 5OOM, 6I9R, 6NU2, 6NU3, 6VLZ, 6VMI, 6ZM5, 6ZM6, 6ZS9, 6ZSA, 6ZSB, 6ZSC, 6ZSD, 6ZSE, 6ZSG, 7A5F, 7A5G, 7A5H, 7A5I, 7A5J, 7A5K, 7L08, 7L20, 7O9K, 7O9M, 7ODR, 7ODS, 7ODT, 7OF0, 7OF2, 7OF3, 7OF4, 7OF5, 7OF6, 7OF7, 7OG4, 7OI6, 7OI7, 7OI8, 7OI9, 7OIA, 7OIB, 7OIC, 7OID, 7OIE, 7PD3, 7PO4, 7QH6
• Sequence:

  MASGLVRLLQQGHRCLLAPVAPKLVPPVRGVKKGFRAAFRFQKELERQRLLRCPPPPVRR
  SEKPNWDYHAEIQAFGHRLQENFSLDLLKTAFVNSCYIKSEEAKRQQLGIEKEAVLLNLK
  SNQELSEQGTSFSQTCLTQFLEDEYPDMPTEGIKNLVDFLTGEEVVCHVARNLAVEQLTL
  SEEFPVPPAVLQQTFFAVIGALLQSSGPERTALFIRDFLITQMTGKELFEMWKIINPMGL
  LVEELKKRNVSAPESRLTRQSGGTTALPLYFVGLYCDKKLIAEGPGETVLVAEEEAARVA
  LRKLYGFTENRRPWNYSKPKETLRAEKSITAS

• Sequence length: 332

Pathways

Reactome:

Mitochondrial translation elongation
Mitochondrial translation termination

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Combined oxidative phosphorylation deficiency	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16	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	23315540
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy, Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157

Unknown
Disease term	Disease name	Evidence	References	Source
Mitochondrial Diseases	mitochondrial disease			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Acidosis Lactic	Associate	34140213
Asthma	Associate	30206357
Cardiomyopathies	Associate	34140213
Cardiomyopathy Hypertrophic	Associate	34140213
Colorectal Neoplasms	Associate	36299603
Drug Hypersensitivity	Associate	30206357
Fatigue	Associate	34140213
Lymphatic Metastasis	Associate	25590838
Mitochondrial Diseases	Associate	34140213
Muscle Weakness	Associate	34140213
Muscular Diseases	Associate	34140213
Neurologic Manifestations	Associate	34140213
Thyroid Cancer Papillary	Associate	25590838